Whooping cough, or pertussis, is a respiratory infection that can cause coughing fits. In serious cases, the coughing can become violent and rapid. You may cough so hard that you vomit. The name of the disease comes from the whooping noise you might make when you try to breathe in after coughing.
Whooping cough is very contagious and can affect anyone. But it can be especially serious in babies who did not yet get the vaccine. About half of babies under age one who get whooping cough need care in the hospital.
Whooping cough is caused by a type of bacteria called Bordetella pertussis. It spreads from person to person. People who have pertussis usually spread it through coughing, sneezing, or breathing very close to someone. It can also sometimes be spread by touching an infected surface and then touching your nose or mouth.
If you get pertussis, you are contagious for about 2 weeks after you start coughing. Antibiotics may shorten the time that you are contagious.
The symptoms of pertussis usually start within 5 to 10 days after you are exposed. But sometimes you may not get symptoms until up to 3 weeks later.
Whooping cough usually starts with cold-like symptoms. They may last for 1 to 2 weeks and can include
The early symptoms in babies can be different. They may only cough a little bit, or they may not cough at all. Babies may have apnea, which means that there is a pause in breathing. They may start to turn blue. If this happens, get medical care for your baby right away.
As whopping cough gets worse, the symptoms may include
The coughing fits get worse and start happening more often, especially at night. You may have them for up to 10 weeks or more.
Recovery from this can happen slowly. Your cough gets milder and happens less often. The coughing fits can come back if you have another respiratory infection, even months after you first got whooping cough.
Your health care provider may use many tools to diagnose whooping cough:
The treatment for whooping cough is usually antibiotics. Early treatment is very important. It may make your infection less serious and can also help prevent spreading the disease to others.
Treatment after you have been sick for 3 weeks or longer may not help. The bacteria are gone from your body by then, even though you usually still have symptoms. This is because the bacteria have already done damage to your body.
Whooping cough can sometimes be very serious and require treatment in the hospital.
Vaccines are the best way to prevent whooping cough. There are two vaccines in the United States that can help prevent whooping cough: DTaP and Tdap. These vaccines also provide protection against tetanus and diphtheria.
Babies and other people at high risk serious disease should be kept away from people who have whooping cough.
Sometimes health care providers give antibiotics to family members of people who have had whooping cough or people who have been exposed to it. The antibiotics may prevent them from getting the disease.
You may also help prevent the spread of whooping cough (and other respiratory diseases) by
Centers for Disease Control and Prevention
", "canonical_name": "Whooping cough"} {"concept_id": "C0043202", "aliases": [], "types": ["T047"], "definition": "A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.", "canonical_name": "Wolff-Parkinson-White syndrome"} {"concept_id": "C0043325", "aliases": ["Xanthomata", "Xanthomatosis"], "types": ["T047"], "definition": "A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.", "canonical_name": "Yellow bumps of fatty deposits on skin"} {"concept_id": "C0043349", "aliases": [], "types": ["T047"], "definition": "Dryness of the eye surfaces caused by deficiency of tears or conjunctival secretions. It may be associated with vitamin A deficiency, trauma, or any condition in which the eyelids do not close completely.", "canonical_name": "Xerophthalmia"} {"concept_id": "C0043352", "aliases": ["Reduced salivation", "Dry mouth syndrome", "Xerostomia", "Dry mouth"], "types": ["T047"], "definition": "Decreased salivary flow.", "canonical_name": "Decreased salivary flow"} {"concept_id": "C0043515", "aliases": [], "types": ["T047"], "definition": "A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.", "canonical_name": "Zollinger-Ellison syndrome"} {"concept_id": "C0062251", "aliases": ["Hb Barts", "Haemoglobin Barts"], "types": ["T116", "T123"], "definition": "Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues. [HPO:probinson]", "canonical_name": "Hemoglobin Barts"} {"concept_id": "C0078917", "aliases": ["Absent pigmentation in the eye", "Albinism, Ocular"], "types": ["T019"], "definition": "Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.", "canonical_name": "Ocular albinism"} {"concept_id": "C0078981", "aliases": ["Fluid-filled sac located in membrane surrounding brain or spinal cord", "Arachnoid cyst"], "types": ["T047"], "definition": "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)", "canonical_name": "Arachnoid cysts"} {"concept_id": "C0078982", "aliases": [], "types": ["T019"], "canonical_name": "Arrhinencephaly"} {"concept_id": "C0079043", "aliases": ["Constriction of the bronchi", "Bronchoconstriction"], "types": ["T042"], "definition": "Narrowing of the caliber of the BRONCHI, physiologically or as a result of pharmacological intervention.", "canonical_name": "Bronchial constriction"} {"concept_id": "C0079153", "aliases": ["Congenital bullous ichthyosiform erythroderma", "Epidermolytic hyperkeratosis"], "types": ["T047"], "definition": "A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.", "canonical_name": "Bullous congenital ichthyosiform erythroderma"} {"concept_id": "C0079154", "aliases": ["Nonbullous congenital ichthyosiform erythroderma", "Congenital non-bullous ichthyosis", "Congenital nonbullous ichthyosiform erythroderma", "Ichthyosis lammellaris", "Ichthyosis, congenital, nonblistering", "Collodion baby", "Congenital lamellar ichthyosis"], "types": ["T047"], "definition": "A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.", "canonical_name": "Nonbullous congenital ichthyosis"} {"concept_id": "C0079218", "aliases": ["Desmoid tumours"], "types": ["T191"], "definition": "A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed)", "canonical_name": "Desmoid tumors"} {"concept_id": "C0079352", "aliases": ["Torticollis, congenital"], "types": ["T019"], "definition": "A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. [HPO:probinson]", "canonical_name": "Congenital muscular torticollis"} {"concept_id": "C0079541", "aliases": ["Single brain ventricle"], "types": ["T019"], "definition": "Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.", "canonical_name": "Holoprosencephaly"} {"concept_id": "C0079583", "aliases": ["Congenital ichthyosis", "Congenital ichthyosiform erythroderma"], "types": ["T047"], "definition": "Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalized scaling. The forms include bullous (HYPERKERATOSIS, EPIDERMOLYTIC), non-bullous (ICHTHYOSIS, LAMELLAR), wet type, and dry type.", "canonical_name": "Ichthyosis, congenital"} {"concept_id": "C0079731", "aliases": ["B cell lymphoma"], "types": ["T191"], "definition": "A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.", "canonical_name": "B-cell lymphoma"} {"concept_id": "C0079772", "aliases": ["T cell lymphoma"], "types": ["T191"], "definition": "A group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes.", "canonical_name": "T-cell lymphoma"} {"concept_id": "C0079773", "aliases": [], "types": ["T191"], "definition": "A group of lymphomas exhibiting clonal expansion of malignant T-lymphocytes arrested at varying stages of differentiation as well as malignant infiltration of the skin. MYCOSIS FUNGOIDES; SEZARY SYNDROME; LYMPHOMATOID PAPULOSIS; and PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA are the best characterized of these disorders.", "canonical_name": "Cutaneous T-cell lymphoma"} {"concept_id": "C0079924", "aliases": ["Low levels of amniotic fluid"], "types": ["T046"], "definition": "A condition of abnormally low AMNIOTIC FLUID volume. Principal causes include malformations of fetal URINARY TRACT; FETAL GROWTH RETARDATION; GESTATIONAL HYPERTENSION; nicotine poisoning; and PROLONGED PREGNANCY.", "canonical_name": "Oligohydramnios"} {"concept_id": "C0080024", "aliases": ["Piebaldism", "Partial absent skin pigmentation", "Congenital partial leucoderma", "Partial albinism"], "types": ["T019"], "definition": "Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.", "canonical_name": "Congenital partial albinism on face, trunk, or limbs"} {"concept_id": "C0080174", "aliases": [], "types": ["T019"], "definition": "A common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges. The lesion is also covered by skin. L5 and S1 are the most common vertebrae involved. The condition may be associated with an overlying area of hyperpigmented skin, a dermal sinus, or an abnormal patch of hair. The majority of individuals with this malformation are asymptomatic although there is an increased incidence of tethered cord syndrome and lumbar SPONDYLOSIS. (From Joynt, Clinical Neurology, 1992, Ch55, p34)", "canonical_name": "Spina bifida occulta"} {"concept_id": "C0080178", "aliases": ["Incomplete closure of the vertebral arch", "Spina bifida", "Spinal dysraphism"], "types": ["T019"], "definition": "Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)", "canonical_name": "Split spine"} {"concept_id": "C0080179", "aliases": ["bone vertebra"], "types": ["T037"], "definition": "Broken bones in the vertebral column.", "canonical_name": "Fractured vertebra"} {"concept_id": "C0080218", "aliases": ["Occult spinal dysraphism"], "types": ["T047"], "definition": "A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence.", "canonical_name": "Tethered cord"} {"concept_id": "C0080274", "aliases": ["Urinary retention"], "types": ["T033"], "definition": "Inability to empty the URINARY BLADDER with voiding (URINATION).", "canonical_name": "Increased post-void residual urine volume"} {"concept_id": "C0080276", "aliases": [], "types": ["T047"], "definition": "A non-neoplastic or neoplastic disorder that affects the genitourinary system.", "canonical_name": "Genitourinary disease"} {"concept_id": "C0080301", "aliases": [], "types": ["T061"], "definition": "Delivery of an infant through the vagina in a female who has had a prior cesarean section.", "canonical_name": "Vaginal birth after Caesarian"} {"concept_id": "C0085096", "aliases": [], "types": ["T047"], "definition": "Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART.", "canonical_name": "Peripheral vascular disease"} {"concept_id": "C0085109", "aliases": ["Corneal vascularization", "Corneal neovascularization", "New blood vessel formation in cornea", "Corneal neovascularisation"], "types": ["T047"], "definition": "New blood vessels originating from the corneal blood vessels and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION.", "canonical_name": "Limbal neovascularization"} {"concept_id": "C0085110", "aliases": ["Severe combined immunodeficiency"], "types": ["T047"], "definition": "Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).", "canonical_name": "Immunodeficiency, severe combined"} {"concept_id": "C0085128", "aliases": [], "types": ["T033"], "definition": "A state of elevated cardiac output due to conditions of either increased hemodynamic demand or reduced cardiac oxygen output. These conditions may include ANEMIA; ARTERIOVENOUS FISTULA; THYROTOXICOSIS; PREGNANCY; EXERCISE; FEVER; and HYPOXIA. In time, compensatory changes of the heart can lead to pathological form of high cardiac output and eventual HEART FAILURE.", "canonical_name": "Increased cardiac output"} {"concept_id": "C0085131", "aliases": [], "types": ["T047"], "definition": "An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)", "canonical_name": "Beta-galactosidase-1 deficiency"} {"concept_id": "C0085136", "aliases": ["Tumours of the central nervous system", "Neoplasia of the central nervous system", "Neoplasm of the CNS", "Neoplasm of the central nervous system"], "types": ["T191"], "definition": "Benign and malignant neoplastic processes that arise from or secondarily involve the brain, spinal cord, or meninges.", "canonical_name": "Tumors of the central nervous system"} {"concept_id": "C0085200", "aliases": [], "types": ["T026"], "definition": "Intracytoplasmic, eosinophilic, round to elongated inclusions found in vacuoles of injured or fragmented neurons. The presence of Lewy bodies is the histological marker of the degenerative changes in LEWY BODY DISEASE and PARKINSON DISEASE but they may be seen in other neurological conditions. They are typically found in the substantia nigra and locus coeruleus but they are also seen in the basal forebrain, hypothalamic nuclei, and neocortex.", "canonical_name": "Lewy bodies"} {"concept_id": "C0085207", "aliases": ["gestational diabetes"], "types": ["T047"], "definition": "Diabetes mellitus induced by PREGNANCY but resolved at the end of pregnancy. It does not include previously diagnosed diabetics who become pregnant (PREGNANCY IN DIABETICS). Gestational diabetes usually develops in late pregnancy when insulin antagonistic hormones peaks leading to INSULIN RESISTANCE; GLUCOSE INTOLERANCE; and HYPERGLYCEMIA.", "canonical_name": "Maternal diabetes"} {"concept_id": "C0085220", "aliases": [], "types": ["T047"], "definition": "A heterogeneous group of sporadic or familial disorders characterized by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES. Clinical features include multiple, small lobar CEREBRAL HEMORRHAGE; cerebral ischemia (BRAIN ISCHEMIA); and CEREBRAL INFARCTION. Cerebral amyloid angiopathy is unrelated to generalized AMYLOIDOSIS. Amyloidogenic peptides in this condition are nearly always the same ones found in ALZHEIMER DISEASE. (from Kumar: Robbins and Cotran: Pathologic Basis of Disease, 7th ed., 2005)", "canonical_name": "Cerebral amyloid angiopathy"} {"concept_id": "C0085271", "aliases": ["Autoagression", "Self-injurious behavior", "Self-injurious behaviour", "Self-injurious behaviors"], "types": ["T055"], "definition": "Behavior in which persons hurt or harm themselves without the motive of suicide or of sexual deviation.", "canonical_name": "Self-injurious behaviours"} {"concept_id": "C0085277", "aliases": [], "types": ["T048"], "definition": "A phenomenon in which symptoms of a disease are fabricated by an individual other than the patient causing unnecessary, and often painful, physical examinations and treatments. This syndrome is considered a form of CHILD ABUSE, since another individual, usually a parent, is the source of the fabrication of symptoms and presents the child for medical care.", "canonical_name": "Munchausen syndrome by proxy"} {"concept_id": "C0085281", "aliases": ["Addictive behaviour"], "types": ["T048"], "definition": "The observable, measurable, and often pathological activity of an organism that portrays its inability to overcome a habit resulting in an insatiable craving for a substance or for performing certain acts. The addictive behavior includes the emotional and physical overdependence on the object of habit in increasing amount or frequency.", "canonical_name": "Addictive behavior"} {"concept_id": "C0085298", "aliases": ["Sudden cardiac death"], "types": ["T046"], "definition": "Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)", "canonical_name": "Premature sudden cardiac death"} {"concept_id": "C0085307", "aliases": [], "types": ["T047"], "definition": "A collective term for pathological conditions which are caused by the formation of a blood clot (THROMBUS) in a blood vessel, or by blocking of a blood vessel with an EMBOLUS, undissolved materials in the blood stream.", "canonical_name": "Embolism and thrombosis"} {"concept_id": "C0085383", "aliases": ["Hypocarbia", "Reduced carbon dioxide in the blood"], "types": ["T033"], "definition": "Clinical manifestation consisting of a deficiency of carbon dioxide in arterial blood.", "canonical_name": "Hypocapnia"} {"concept_id": "C0085400", "aliases": ["Neurofibrillary tangles", "Paired helical filaments"], "types": ["T049"], "definition": "Abnormal structures located in various parts of the brain and composed of dense arrays of paired helical filaments (neurofilaments and microtubules). These double helical stacks of transverse subunits are twisted into left-handed ribbon-like filaments that likely incorporate the following proteins: (1) the intermediate filaments: medium- and high-molecular-weight neurofilaments; (2) the microtubule-associated proteins map-2 and tau; (3) actin; and (4) UBIQUITINS. As one of the hallmarks of ALZHEIMER DISEASE, the neurofibrillary tangles eventually occupy the whole of the cytoplasm in certain classes of cell in the neocortex, hippocampus, brain stem, and diencephalon. The number of these tangles, as seen in post mortem histology, correlates with the degree of dementia during life. Some studies suggest that tangle antigens leak into the systemic circulation both in the course of normal aging and in cases of Alzheimer disease.", "canonical_name": "Neurofibrillary tangles composed of disordered microtubules in neurons"} {"concept_id": "C0085436", "aliases": [], "types": ["T047"], "definition": "Meningeal inflammation produced by CRYPTOCOCCUS NEOFORMANS, an encapsulated yeast that tends to infect individuals with ACQUIRED IMMUNODEFICIENCY SYNDROME and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature HEADACHE; NAUSEA; PHOTOPHOBIA; focal neurologic deficits; SEIZURES; cranial neuropathies; and HYDROCEPHALUS. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)", "canonical_name": "Cryptococcal meningitis"} {"concept_id": "C0085438", "aliases": [], "types": ["T047"], "definition": "Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts.", "canonical_name": "Fungal meningitis"} {"concept_id": "C0085543", "aliases": ["Epilepsia partialis continua of Kojevnikov", "Kojevnikov's epilepsia", "Epilepsia partialis continua"], "types": ["T047"], "definition": "A variant of EPILEPSY characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)", "canonical_name": "Kozhevnikov's epilepsia"} {"concept_id": "C0085569", "aliases": [], "types": ["T047"], "definition": "Acidosis (pH less than 7.35) that develops with an increase in ionic chloride. [PMID:29493965]", "canonical_name": "Hyperchloremic acidosis"} {"concept_id": "C0085570", "aliases": [], "types": ["T047"], "canonical_name": "Hypokalemic alkalosis"} {"concept_id": "C0085577", "aliases": ["Normocytic anemia"], "types": ["T047"], "definition": "Anemia in which the red blood cell volume is normal.", "canonical_name": "Normocytic anaemia"} {"concept_id": "C0085581", "aliases": [], "types": ["T047"], "definition": "Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough.", "canonical_name": "Restrictive lung disease"} {"concept_id": "C0085582", "aliases": ["Retrobulbar optic neuritis"], "types": ["T047"], "definition": "Optic neuritis that occurs in the section of the optic nerve located behind the eyeball. [HPO:sdoelken]", "canonical_name": "Retrobulbar neuritis"} {"concept_id": "C0085583", "aliases": [], "types": ["T047"], "definition": "Abnormal movement characterized by involuntary jerking and writhing affecting the limbs, trunk, and facial muscles.", "canonical_name": "Choreoathetosis"} {"concept_id": "C0085584", "aliases": [], "types": ["T047"], "definition": "A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries.", "canonical_name": "Encephalopathy"} {"concept_id": "C0085593", "aliases": [], "types": ["T184"], "definition": "The sudden sensation of being cold. It may be accompanied by SHIVERING.", "canonical_name": "Chills"} {"concept_id": "C0085595", "aliases": ["BO", "Body odor"], "types": ["T033"], "definition": "Body smell resulting from the growth of bacteria on the body.", "canonical_name": "Body odour"} {"concept_id": "C0085602", "aliases": ["Extreme thirst"], "types": ["T184"], "definition": "Chronic excessive intake of water; it may be from an organic cause, such as the dehydration of diabetes mellitus, diabetes insipidus, or a reaction to medication, or from a psychological cause. When untreated it can lead to water intoxication.", "canonical_name": "Polydipsia"} {"concept_id": "C0085605", "aliases": ["Hepatic failure"], "types": ["T047"], "definition": "Severe inability of the LIVER to perform its normal metabolic functions, as evidenced by severe JAUNDICE and abnormal serum levels of AMMONIA; BILIRUBIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; LACTATE DEHYDROGENASES; and albumin/globulin ratio. (Blakiston's Gould Medical Dictionary, 4th ed)", "canonical_name": "Liver failure"} {"concept_id": "C0085606", "aliases": [], "types": ["T184"], "definition": "An acute and compelling urge to urinate.", "canonical_name": "Urinary urgency"} {"concept_id": "C0085610", "aliases": [], "types": ["T046"], "definition": "A disorder characterized by an electrocardiographic finding of abnormally slow heart rate with its origin in the sinus node. Thresholds for different age, gender, and patient populations exist. (CDISC)", "canonical_name": "Sinus bradycardia"} {"concept_id": "C0085611", "aliases": [], "types": ["T046"], "definition": "An electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac atria.", "canonical_name": "Atrial arrhythmia"} {"concept_id": "C0085612", "aliases": ["Ventricular arrhythmia"], "types": ["T047"], "definition": "A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.", "canonical_name": "Ventricular arrhythmias"} {"concept_id": "C0085614", "aliases": [], "types": ["T047"], "definition": "A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds.", "canonical_name": "First degree atrioventricular block"} {"concept_id": "C0085615", "aliases": ["Right bundle-branch block"], "types": ["T047"], "definition": "A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. [DDD:dbrown, HPO:probinson]", "canonical_name": "Right bundle branch block"} {"concept_id": "C0085616", "aliases": ["Vascular spasm", "Angiospasm", "Vasospasm"], "types": ["T046"], "definition": "spasm of the blood vessels resulting in decrease in their caliber.", "canonical_name": "Blood vessel spasm"} {"concept_id": "C0085619", "aliases": [], "types": ["T033"], "definition": "Breathlessness in the recumbent position.", "canonical_name": "Orthopnea"} {"concept_id": "C0085623", "aliases": [], "types": ["T033"], "definition": "Lack of movement.", "canonical_name": "Akinesia"} {"concept_id": "C0085631", "aliases": [], "types": ["T184"], "definition": "A state of restlessness associated with unpleasant feelings of irritability and tension. Causes include pain, stress, fever, alcohol and nicotine withdrawal, cocaine and hallucinogenic drugs use, depression, bipolar disorders, and schizophrenia.", "canonical_name": "Agitation"} {"concept_id": "C0085632", "aliases": ["Apathy"], "types": ["T048"], "definition": "Lack of emotion or emotional expression; a disorder of motivation that persists over time.", "canonical_name": "Lack of feeling, emotion, interest"} {"concept_id": "C0085633", "aliases": ["Mood alterations", "Emotional lability", "Mood changes", "Mood lability", "Emotional instability"], "types": ["T048"], "definition": "A condition of frequent mood changes associated with excessive emotional reactions.", "canonical_name": "Mood swings"} {"concept_id": "C0085635", "aliases": [], "types": ["T047"], "definition": "Perceived flashes of light. [HPO:probinson, PMID:10506812]", "canonical_name": "Photopsia"} {"concept_id": "C0085636", "aliases": ["Extreme sensitivity of the eyes to light", "Light hypersensitivity"], "types": ["T184"], "definition": "Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.", "canonical_name": "Photophobia"} {"concept_id": "C0085637", "aliases": [], "types": ["T046"], "definition": "An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications. [HPO:curators]", "canonical_name": "Oculogyric crisis"} {"concept_id": "C0085639", "aliases": [], "types": ["T033"], "definition": "A sudden movement downward, usually resulting in injury.", "canonical_name": "Falls"} {"concept_id": "C0085641", "aliases": [], "types": ["T184"], "definition": "Elevated skin lesions associated with the presence of purulent material.", "canonical_name": "Pustular rash"} {"concept_id": "C0085642", "aliases": [], "types": ["T047"], "definition": "A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.", "canonical_name": "Livedo reticularis"} {"concept_id": "C0085649", "aliases": ["Peripheral oedema"], "types": ["T046"], "definition": "Swelling due to an excessive accumulation of fluid in the upper or lower extremities.", "canonical_name": "Peripheral edema"} {"concept_id": "C0085652", "aliases": [], "types": ["T047"], "definition": "An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown.", "canonical_name": "Pyoderma gangrenosum"} {"concept_id": "C0085656", "aliases": ["Nummular eczema", "Nummular dermatitis"], "types": ["T047"], "definition": "A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet [PMID:26091664]", "canonical_name": "Discoid eczema"} {"concept_id": "C0085661", "aliases": ["Oncholysis", "Detachment of nail"], "types": ["T047"], "definition": "Separation of nail plate from the underlying nail bed. It can be a sign of skin disease, infection (such as ONYCHOMYCOSIS) or tissue injury.", "canonical_name": "Onycholysis"} {"concept_id": "C0085664", "aliases": ["Cutaneous horn"], "types": ["T020"], "definition": "A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin. [ORCID:0000-0002-4095-8489, PMID:33085427]", "canonical_name": "Cornu cutaneum"} {"concept_id": "C0085669", "aliases": ["Acute leukemia", "Acute leukemias"], "types": ["T191"], "definition": "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).", "canonical_name": "Acute leukaemia"} {"concept_id": "C0085679", "aliases": [], "types": ["T047"], "definition": "An abnormally increased chloride concentration in the blood. [HPO:probinson]", "canonical_name": "Hyperchloremia"} {"concept_id": "C0085680", "aliases": [], "types": ["T047"], "definition": "abnormally low level of chloride in the blood.", "canonical_name": "Hypochloremia"} {"concept_id": "C0085681", "aliases": [], "types": ["T047"], "definition": "A condition of abnormally high level of PHOSPHATES in the blood, usually significantly above the normal range of 0.84-1.58 mmol per liter of serum.", "canonical_name": "Hyperphosphatemia"} {"concept_id": "C0085682", "aliases": ["Hypophosphataemia", "Low blood phosphate level"], "types": ["T047"], "definition": "A condition of an abnormally low level of PHOSPHATES in the blood.", "canonical_name": "Hypophosphatemia"} {"concept_id": "C0085690", "aliases": ["Hordeolum internum"], "types": ["T047"], "definition": "Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling. [HPO:curators]", "canonical_name": "Stye of inner eyelid"} {"concept_id": "C0085695", "aliases": [], "types": ["T047"], "definition": "Inflammation of the stomach that is chronic in nature.", "canonical_name": "Chronic gastritis"} {"concept_id": "C0085702", "aliases": ["Monocytosis"], "types": ["T047"], "definition": "Abnormally high level of monocytes in the blood.", "canonical_name": "High blood monocyte number"} {"concept_id": "C0085758", "aliases": [], "types": ["T019"], "definition": "The severe form of Hirschsprung disease, this is characterized by a complete lack of nerve cells in the large intestine, and often a partial lack in the small intestine. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary.", "canonical_name": "Total colonic aganglionosis"} {"concept_id": "C0086437", "aliases": ["Joint ligamentous laxity", "Loose-jointedness", "Ligamentous laxity", "Joint laxity", "Hyperlaxity", "Lax joints"], "types": ["T033"], "definition": "Looseness or instability of a joint.", "canonical_name": "Loosejointedness"} {"concept_id": "C0086438", "aliases": [], "types": ["T047"], "definition": "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.", "canonical_name": "Hypogammaglobulinemia"} {"concept_id": "C0086439", "aliases": ["Decreased spontaneous movement", "Hypokinesia", "Decreased muscle movement"], "types": ["T033"], "definition": "Slow or diminished movement of body musculature. It may be associated with BASAL GANGLIA DISEASES; MENTAL DISORDERS; prolonged inactivity due to illness; and other conditions.", "canonical_name": "Decreased spontaneous movements"} {"concept_id": "C0086523", "aliases": [], "types": ["T047"], "canonical_name": "Laryngeal paralysis"} {"concept_id": "C0086543", "aliases": ["Cataract"], "types": ["T047"], "definition": "Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)", "canonical_name": "Cataracts"} {"concept_id": "C0086565", "aliases": ["Abnormal liver function"], "types": ["T033"], "definition": "A finding that indicates abnormal liver function.", "canonical_name": "Liver dysfunction"} {"concept_id": "C0086769", "aliases": [], "types": ["T048"], "definition": "An episode of intense fear accompanied by symptoms such as heart palpitations, sweating and chills or hot flushes, a sensation of dyspnea, chest pain, abdominal distress, depersonalization, fear of going crazy, and fear of dying.", "canonical_name": "Panic attack"} {"concept_id": "C0086795", "aliases": [], "types": ["T047"], "definition": "An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most severe form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase resulting in the accumulation of mucopolysaccharides in the tissues.", "canonical_name": "Dysostosis multiplex"} {"concept_id": "C0087012", "aliases": [], "types": ["T047"], "definition": "A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)", "canonical_name": "Spinocerebellar atrophy"} {"concept_id": "C0149508", "aliases": ["Blocked Eustachian tube"], "types": ["T033"], "canonical_name": "Obstruction of Eustachian tube"} {"concept_id": "C0149512", "aliases": [], "types": ["T047"], "definition": "Sinusitis lasting less than or equal to thirty days.", "canonical_name": "Acute sinusitis"} {"concept_id": "C0149514", "aliases": [], "types": ["T047"], "definition": "Acute inflammation and edema of the larger bronchi caused by viruses or bacteria. Signs and symptoms include cough, sputum production, shortness of breath, and wheezing.", "canonical_name": "Acute bronchitis"} {"concept_id": "C0149516", "aliases": ["Chronic sinusitis"], "types": ["T047"], "definition": "Inflammation of the paranasal sinuses that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.", "canonical_name": "Sinusitis, chronic"} {"concept_id": "C0149521", "aliases": ["Chronic pancreatitis"], "types": ["T047"], "definition": "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.", "canonical_name": "Chronic pancreas inflammation"} {"concept_id": "C0149630", "aliases": ["Aortic valve has two leaflets rather than three"], "types": ["T019"], "definition": "A congenital anomaly in which the aortic valve has two leaflets. It is associated with mutations in the NOTCH1 gene or the SMAD6 gene, encoding neurogenic locus notch homolog protein 1 and mothers against decapentaplegic homolog 6, respectively. It is a clinically heterogeneous condition, with a high incidence of aortic valve and ascending aortic complications requiring surgery.", "canonical_name": "Bicuspid aortic valve"} {"concept_id": "C0149632", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of the bladder", "definition": "An abnormality of the urinary bladder. [HPO:probinson]"} {"concept_id": "C0149645", "aliases": [], "types": ["T047"], "canonical_name": "Cervical myelopathy"} {"concept_id": "C0149651", "aliases": ["Digital clubbing", "Clubbing"], "types": ["T190"], "definition": "An enlargement of the tips of the fingers or toes and a change in the angle where the nails emerge. It occurs when the amount of soft tissue beneath the nail beds increases. It may be idiopathic, hereditary, or associated with a wide range of diseases, including cardiopulmonary disorders and malignant neoplasms.", "canonical_name": "Clubbing of fingers and toes"} {"concept_id": "C0149696", "aliases": ["Non-allergic food hypersensitivity"], "types": ["T047"], "definition": "Digestive system disorder where a particular food irritates the digestive tract or cannot be properly digested (i.e., due to a lack of a digestive enzyme). It differs from FOOD HYPERSENSITIVITY which is an immune system disorder, usually due to specific proteins in food. http://my.clevelandclinic.org/health/articles/problem-foods-is-it-an-allergy-or-intolerance.", "canonical_name": "Food intolerance"} {"concept_id": "C0149699", "aliases": ["Fractured fibula", "bone fibula", "Broken fibula", "Fracture of the fibula"], "types": ["T037"], "definition": "Fractures of the FIBULA.", "canonical_name": "Fibula fracture"} {"concept_id": "C0149704", "aliases": [], "types": ["T047"], "canonical_name": "Gingivostomatitis"} {"concept_id": "C0149721", "aliases": ["Left ventricular wall hypertrophy", "Left ventricular hypertrophy"], "types": ["T047"], "definition": "Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality.", "canonical_name": "Heart left ventricle hypertrophy"} {"concept_id": "C0149725", "aliases": [], "types": ["T047"], "definition": "An acute or chronic, viral or bacterial infectious process that affects the lower respiratory tract.", "canonical_name": "Lower respiratory tract infections"} {"concept_id": "C0149726", "aliases": [], "types": ["T033"], "definition": "An abnormal growth in the lung.", "canonical_name": "Pulmonary mass"} {"concept_id": "C0149727", "aliases": ["Abnormality of the lymph nodes", "Abnormal lymph node histology"], "types": ["T033"], "canonical_name": "Abnormality of the lymph nodes", "definition": "A lymph node abnormality. [HPO:probinson]"} {"concept_id": "C0149745", "aliases": ["Oral ulcer", "Mouth sore", "Mouth ulcer"], "types": ["T047"], "definition": "A loss of mucous substance of the mouth showing local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. It is the result of a variety of causes, e.g., denture irritation, aphthous stomatitis (STOMATITIS, APHTHOUS); NOMA; necrotizing gingivitis (GINGIVITIS, NECROTIZING ULCERATIVE); TOOTHBRUSHING; and various irritants. (From Jablonski, Dictionary of Dentistry, 1992, p842)", "canonical_name": "Oral mucosal ulceration"} {"concept_id": "C0149754", "aliases": ["Periorbital cellulitis"], "types": ["T047"], "canonical_name": "Periorbital oedema"} {"concept_id": "C0149770", "aliases": [], "types": ["T046"], "definition": "A collection of pus in the area of the rectum. [HPO:probinson]", "canonical_name": "Rectal abscess"} {"concept_id": "C0149771", "aliases": [], "types": ["T020"], "definition": "Herniation of the RECTUM into the VAGINA.", "canonical_name": "Rectocele"} {"concept_id": "C0149772", "aliases": ["Abnormality of the salivary glands"], "types": ["T190"], "canonical_name": "Abnormal salivary gland morphology", "definition": "Any abnormality of the salivary glands, the exocrine glands that produce saliva. [HPO:probinson]"} {"concept_id": "C0149777", "aliases": ["Skin abscess"], "types": ["T046"], "definition": "An abscess that develops in the skin and subcutaneous tissues. Causes include folliculitis, furuncle, skin injury, and bacterial infections. Signs and symptoms include the presence of a swollen, tender, and erythematous nodular lesion in the skin associated with fever and chills.", "canonical_name": "Cutaneous abscess"} {"concept_id": "C0149781", "aliases": ["Spontaneous collapsed lung"], "types": ["T047"], "definition": "Pneumothorax occurring without traumatic injury to the chest or lung. [HPO:probinson]", "canonical_name": "Spontaneous pneumothorax"} {"concept_id": "C0149782", "aliases": [], "types": ["T191"], "definition": "A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.", "canonical_name": "Squamous cell lung carcinoma"} {"concept_id": "C0149793", "aliases": [], "types": ["T184"], "definition": "Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)", "canonical_name": "Amaurosis fugax"} {"concept_id": "C0149825", "aliases": [], "types": ["T047"], "canonical_name": "Adenoid hypertrophy"} {"concept_id": "C0149842", "aliases": [], "types": ["T047"], "definition": "Inflamation of the eyelid due to overactivity of the sebaceous gland. [PMID:10777824]", "canonical_name": "Seborrhoeic blepharitis"} {"concept_id": "C0149854", "aliases": ["Cerebellar hemorrhage"], "types": ["T046"], "definition": "Hemorrhage into the parenchyma of the cerebellum. [HPO:probinson]", "canonical_name": "Cerebellar haemorrhage"} {"concept_id": "C0149860", "aliases": ["Fractured coccyx"], "types": ["T037"], "definition": "A traumatic break in the coccyx bone.", "canonical_name": "bone coccyx"} {"concept_id": "C0149871", "aliases": ["Deep venous thrombosis", "Deep vein thrombosis", "Blood clot in a deep vein"], "types": ["T047"], "definition": "A blood clot in a deep vein, predominantly in the lower extremity, but may include the pelvis or upper extremity.", "canonical_name": "Multiple deep venous thrombosis"} {"concept_id": "C0149877", "aliases": [], "types": ["T047"], "definition": "Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage. [HPO:probinson]", "canonical_name": "Hypoglycemic encephalopathy"} {"concept_id": "C0149886", "aliases": ["Simple febrile seizure", "Simple fever fit", "Simple febrile convulsion"], "types": ["T047"], "definition": "A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. [HPO:jalbers, PMID:19125841, PMID:6779259, PMID:972656]", "canonical_name": "Simple febrile seizures"} {"concept_id": "C0149887", "aliases": ["Slipped capital femoral epiphyses", "Slipped end part of innermost thighbone", "Slipped capilal femoral epiphysis"], "types": ["T047"], "definition": "A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip.", "canonical_name": "Proximal femoral epiphysiolysis"} {"concept_id": "C0149925", "aliases": ["Small cell lung cancer", "Oat cell lung cancer", "Small cell lung carcinoma"], "types": ["T191"], "definition": "A form of highly malignant lung cancer that is composed of small ovoid cells (SMALL CELL CARCINOMA).", "canonical_name": "Oat cell carcinoma of lung"} {"concept_id": "C0149931", "aliases": ["Migraine headaches", "Migraine headache"], "types": ["T047"], "definition": "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.", "canonical_name": "Migraine"} {"concept_id": "C0149951", "aliases": [], "types": ["T191"], "definition": "A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts.", "canonical_name": "Ovarian fibroma"} {"concept_id": "C0149955", "aliases": [], "types": ["T019"], "definition": "A rare congenital abnormality in which the duodenum is surrounded by a ring of pancreatic tissue. It may result in constriction of the duodenum and feeding intolerance.", "canonical_name": "Annular pancreas"} {"concept_id": "C0149958", "aliases": [], "types": ["T047"], "definition": "A seizure that originates in one area of the brain that affects consciousness.", "canonical_name": "Complex partial seizures"} {"concept_id": "C0149977", "aliases": ["Radial subluxation", "Radial head subluxation"], "types": ["T037"], "definition": "Partial dislocation of the head of the radius. [HPO:curators]", "canonical_name": "Radial-head subluxation"} {"concept_id": "C0150055", "aliases": ["Long-lasting pain"], "types": ["T184"], "definition": "Aching sensation that persists for more than a few months. It may or may not be associated with trauma or disease, and may persist after the initial injury has healed. Its localization, character, and timing are more vague than with acute pain.", "canonical_name": "Chronic pain"} {"concept_id": "C0150080", "aliases": ["Poor social interactions", "Impaired social interaction"], "types": ["T048"], "definition": "Persistent difficulties in the social uses of verbal and nonverbal communications. (DSM-V)", "canonical_name": "Impaired social interactions"} {"concept_id": "C0150988", "aliases": [], "types": ["T047"], "definition": "Localized thickening and tightness of the skin of the fingers or toes. [HPO:probinson]", "canonical_name": "Sclerodactyly"} {"concept_id": "C0150993", "aliases": ["Nail pitting", "Pitted nails"], "types": ["T033"], "definition": "Depressions on the surface of the nail. This finding may be associated with psoriasis.", "canonical_name": "Nail pits"} {"concept_id": "C0151190", "aliases": [], "types": ["T033"], "definition": "Palpable Purpura: minute bluish rash which results from extra- vasation of blood into subcutaneous tissue. By histopathology, it is a leukocytoclastic angiitis. A common manifestation of many disorders which cause small vessel inflammation.", "canonical_name": "Palpable purpura"} {"concept_id": "C0151205", "aliases": [], "types": ["T046"], "definition": "Swelling due to an excessive accumulation of fluid around the orbits of the face.", "canonical_name": "Periorbital edema"} {"concept_id": "C0151206", "aliases": ["Scalp hypersensitivity"], "types": ["T184"], "definition": "Pain or discomfort of the scalp elicited by palpation. [HPO:probinson]", "canonical_name": "Scalp tenderness"} {"concept_id": "C0151219", "aliases": ["Nose chondritis"], "types": ["T047"], "canonical_name": "Nasal chondritis", "definition": "Inflammation of the cartilage of the nose. [PMID:33108101]"} {"concept_id": "C0151281", "aliases": ["Genital ulcers"], "types": ["T047"], "canonical_name": "Genital ulcers"} {"concept_id": "C0151295", "aliases": ["Mononeuritis multiplex"], "types": ["T047"], "definition": "A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.", "canonical_name": "Multiple mononeuropathy"} {"concept_id": "C0151311", "aliases": ["Cranial nerve paralysis", "Cranial nerve palsies", "Cranial nerve palsy"], "types": ["T047"], "definition": "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.", "canonical_name": "Cranial nerve paresis"} {"concept_id": "C0151313", "aliases": ["Damage to nerves that sense feeling", "Peripheral sensory neuropathy"], "types": ["T047"], "definition": "Inflammation or degeneration of the sensory nerves.", "canonical_name": "Sensory neuropathy"} {"concept_id": "C0151315", "aliases": ["Stiff neck"], "types": ["T184"], "definition": "Limited mobility of the neck, usually accompanied by pain.", "canonical_name": "Neck stiffness"} {"concept_id": "C0151317", "aliases": [], "types": ["T047"], "definition": "Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. []", "canonical_name": "Chronic infection"} {"concept_id": "C0151379", "aliases": [], "types": ["T034"], "definition": "Rheumatoid Factor: an immunoglobulin, most often of the IgM class, directed against the host's own immunoglobulin, usually an IgG. It is a non-specific marker and is present in many diseases.", "canonical_name": "Rheumatoid factor positive"} {"concept_id": "C0151465", "aliases": ["Renal parenchymal abcess", "Intrarenal abscess"], "types": ["T020"], "definition": "An abscess that is located within the renal parenchyma.", "canonical_name": "Renal abscess"} {"concept_id": "C0151468", "aliases": ["Thyroid follicular adenoma"], "types": ["T191"], "definition": "A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.", "canonical_name": "Thyroid adenoma"} {"concept_id": "C0151480", "aliases": ["Antinuclear antibody positive", "Serum antinuclear antibody", "Antinuclear antibodies", "Antinuclear antibody positivity"], "types": ["T034"], "definition": "Indicates that antibodies directed against nuclear antigens have been detected.", "canonical_name": "Elevated antinuclear antibody"} {"concept_id": "C0151489", "aliases": [], "types": ["T190"], "canonical_name": "Arterial abnormalities"} {"concept_id": "C0151514", "aliases": ["Skin atrophy", "Skin degeneration", "Atrophic skin"], "types": ["T047"], "definition": "The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging.", "canonical_name": "Dermal atrophy"} {"concept_id": "C0151516", "aliases": ["Hypoplastic thyroid", "Thyroid hypoplasia"], "types": ["T047"], "definition": "Developmental hypoplasia of the thyroid gland. [HPO:probinson]", "canonical_name": "Small thyroid gland"} {"concept_id": "C0151517", "aliases": ["Third-degree heart block", "Third degree atrioventricular block"], "types": ["T047"], "definition": "A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)", "canonical_name": "Complete heart block"} {"concept_id": "C0151526", "aliases": ["Premature delivery of affected infants", "Shortened gestation time", "Premature delivery", "Preterm birth", "Preterm delivery"], "types": ["T046"], "definition": "Birth when a fetus is less than 37 weeks and 0 days gestational age.", "canonical_name": "Premature birth"} {"concept_id": "C0151529", "aliases": ["Increased bleeding time", "Prolonged bleeding time"], "types": ["T033"], "canonical_name": "Prolonged bleeding time", "definition": "Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. [DDD:mumford]"} {"concept_id": "C0151539", "aliases": ["Increased blood urea nitrogen"], "types": ["T033"], "definition": "Laboratory results demonstrating an increase in the concentration of urea nitrogen in a blood sample.", "canonical_name": "Increased BUN"} {"concept_id": "C0151544", "aliases": ["GI carcinoma"], "types": ["T191"], "definition": "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.", "canonical_name": "Gastrointestinal carcinoma"} {"concept_id": "C0151563", "aliases": ["Prolonged clotting time"], "types": ["T033"], "canonical_name": "Prolonged whole-blood clotting time", "definition": "An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot. [HPO:probinson]"} {"concept_id": "C0151564", "aliases": [], "types": ["T184"], "definition": "Muscular rigidity that is characterized by jerky incremental movements of a limb when passively moved through the range of motion of a joint. Cogwheel rigidity is often an early sign of Parkinson's disease.", "canonical_name": "Cogwheel rigidity"} {"concept_id": "C0151572", "aliases": ["Reduced corneal reflex", "Decreased corneal reflex"], "types": ["T033"], "definition": "An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. [HPO:probinson]", "canonical_name": "Decreased blink reflex"} {"concept_id": "C0151579", "aliases": [], "types": ["T033"], "definition": "Crystals in the URINE found in urinary sediment analysis. Urinary crystalline may be formed from various metabolites (e.g., CALCIUM OXALATES; CALCIUM PHOSPHATES; URATES) and drugs (e.g., SULPHADIAZINE; ACYCLOVIR; and TRIAMTERENE).", "canonical_name": "Crystalluria"} {"concept_id": "C0151582", "aliases": [], "types": ["T047"], "definition": "The presence of uric acid crystals in the urine. [PMID:25045326, PMID:8671802]", "canonical_name": "Uric acid crystalluria"} {"concept_id": "C0151583", "aliases": ["Abnormal CSF findings", "Abnormality of the CSF"], "types": ["T033"], "canonical_name": "Abnormality of the cerebrospinal fluid", "definition": "An abnormality of the cerebrospinal fluid (CSF). [HPO:probinson]"} {"concept_id": "C0151594", "aliases": ["Bloody diarrhoea", "Bloody diarrhea"], "types": ["T047"], "definition": "Passage of many stools containing blood. []", "canonical_name": "Bloody bowel movement"} {"concept_id": "C0151603", "aliases": ["Anasarca", "Extreme generalised oedema"], "types": ["T046"], "definition": "A condition that is characterized by the presence of generalized edema. Causes include congestive heart failure, liver failure, renal failure, and severe malnutrition.", "canonical_name": "Extreme generalized edema"} {"concept_id": "C0151604", "aliases": ["Genital oedema"], "types": ["T046"], "definition": "Swelling due to an excessive accumulation of fluid in the genitals.", "canonical_name": "Genital edema"} {"concept_id": "C0151610", "aliases": ["Tongue oedema"], "types": ["T046"], "definition": "An abnormal accumulation of fluid and swelling in the tongue. []", "canonical_name": "Tongue edema"} {"concept_id": "C0151611", "aliases": ["Abnormal EEG", "Electroencephalogram abnormal", "Abnormal electroencephalogram", "EEG abnormalities", "Electroencephalogram abnormalities"], "types": ["T033"], "definition": "An electroencephalogram that contains findings outside the parameters considered normal.", "canonical_name": "EEG abnormality"} {"concept_id": "C0151628", "aliases": ["Premature epimetaphyseal fusion"], "types": ["T046"], "definition": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson, PMID:12624140]", "canonical_name": "Premature closure of epiphyses"} {"concept_id": "C0151631", "aliases": ["Decreased ESR", "Low ESR"], "types": ["T033"], "definition": "A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. [PMID:10524488]", "canonical_name": "Decreased erythrocyte sedimentation rate"} {"concept_id": "C0151632", "aliases": ["Elevated erythrocyte sedimentation rate", "High ESR", "Elevated sedimentation rate", "Increased erythrocyte sedimentation rate", "Elevated ESR", "Raised erythrocyte sedimentation rate"], "types": ["T033"], "definition": "An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. [PMID:10524488]", "canonical_name": "High erythrocyte sedimentation rate"} {"concept_id": "C0151636", "aliases": ["Premature ventricular beat", "Premature ventricular contraction", "Ventricular ectopics", "Ventricular ectopy", "Ventricular premature beat", "Premature ventricular contractions", "Extra heart beat"], "types": ["T047"], "definition": "A type of cardiac arrhythmia with premature contractions of the HEART VENTRICLES. It is characterized by the premature QRS complex on ECG that is of abnormal shape and great duration (generally >129 msec). It is the most common form of all cardiac arrhythmias. Premature ventricular complexes have no clinical significance except in concurrence with heart diseases.", "canonical_name": "Ventricular extrasystoles"} {"concept_id": "C0151639", "aliases": ["Decreased fertility in females", "Reduced fertility in females"], "types": ["T033"], "canonical_name": "Decreased fertility in females"} {"concept_id": "C0151640", "aliases": ["Decreased fertility in males"], "types": ["T033"], "canonical_name": "Decreased fertility in males"} {"concept_id": "C0151650", "aliases": ["Renal fibrosis"], "types": ["T047"], "definition": "Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. [HPO:probinson, PMID:16408108]", "canonical_name": "Kidney fibrosis"} {"concept_id": "C0151654", "aliases": [], "types": ["T046"], "definition": "The accumulation of fibrotic tissue in the myocardium. This may result from chronic hypertension, myocardial infarction or cardiomyopathy and eventually lead to heart failure.", "canonical_name": "Myocardial fibrosis"} {"concept_id": "C0151669", "aliases": [], "types": ["T033"], "canonical_name": "Increased gamma globulin"} {"concept_id": "C0151671", "aliases": ["Impaired glucose tolerance", "Glucose tolerance decreased"], "types": ["T033"], "definition": "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. [HPO:probinson]", "canonical_name": "Decreased glucose tolerance"} {"concept_id": "C0151683", "aliases": ["Neutrophilia"], "types": ["T033"], "definition": "Abnormally high level of neutrophils in the blood.", "canonical_name": "Increased blood neutrophil counts"} {"concept_id": "C0151686", "aliases": ["Retarded growth"], "types": ["T046"], "definition": "Stature that is smaller than normal as expected for age.", "canonical_name": "Growth retardation"} {"concept_id": "C0151691", "aliases": ["Low HDL-cholesterol", "Decreased circulating high-density lipoprotein levels", "Decreased HDL cholesterol", "Decreased circulating high-density lipoprotein cholesterol"], "types": ["T033"], "canonical_name": "Decreased HDL cholesterol concentration", "definition": "An decreased concentration of high-density lipoprotein cholesterol in the blood. [HPO:gcarletti]"} {"concept_id": "C0151699", "aliases": ["Bleeding within the skull", "Intracranial haemorrhage"], "types": ["T046"], "definition": "Bleeding within the cranium.", "canonical_name": "Intracranial hemorrhage"} {"concept_id": "C0151701", "aliases": ["Pulmonary haemorrhage", "Pulmonary hemorrhage", "Intrapulmonary haemorrhage"], "types": ["T046"], "definition": "Bleeding from the lung parenchyma.", "canonical_name": "Intrapulmonary hemorrhage"} {"concept_id": "C0151702", "aliases": ["Muscle hemorrhage"], "types": ["T046"], "definition": "Bleeding occuring within a muscle [PMID:27231694]", "canonical_name": "Muscle haemorrhage"} {"concept_id": "C0151718", "aliases": ["Decreased circulating cholesterol level"], "types": ["T047"], "definition": "abnormally diminished amount of cholesterol in the blood.", "canonical_name": "Hypocholesterolemia"} {"concept_id": "C0151721", "aliases": ["Male hypogonadism"], "types": ["T047"], "definition": "Eunuch-like state in which the male individual has non-functional TESTES.", "canonical_name": "Decreased function of male gonad"} {"concept_id": "C0151723", "aliases": ["Low blood Mg levels", "Hypomagnesemia"], "types": ["T047"], "definition": "Lower than normal levels of magnesium in the circulating blood.", "canonical_name": "Low blood magnesium levels"} {"concept_id": "C0151731", "aliases": [], "types": ["T047"], "definition": "Formation of infarct resulting from obstruction of HEPATIC ARTERY and/or PORTAL VEIN most often after LIVER TRANSPLANTATION or hepatobiliary surgery.", "canonical_name": "Hepatic infarction"} {"concept_id": "C0151739", "aliases": [], "types": ["T046"], "definition": "A rupture in the wall of the small intestine due to traumatic or pathologic processes.", "canonical_name": "Small intestinal perforation"} {"concept_id": "C0151740", "aliases": ["Intracranial pressure elevation", "Intracranial hypertension", "Increased intracranial pressure"], "types": ["T033"], "definition": "Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders.", "canonical_name": "Rise in pressure inside skull"} {"concept_id": "C0151742", "aliases": [], "types": ["T033"], "definition": "An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. []", "canonical_name": "Increased radioactive iodine uptake"} {"concept_id": "C0151746", "aliases": ["Abnormal kidney function", "Renal functional abnormality", "Abnormal renal physiology", "Kidney function issue", "Abnormal renal function"], "types": ["T046"], "definition": "An abnormal functionality of the kidney. [HPO:probinson]", "canonical_name": "Abnormality of renal physiology"} {"concept_id": "C0151747", "aliases": ["Renal tubular disease"], "types": ["T047"], "definition": "disease of the kidney structure called tubule", "canonical_name": "Renal tubular dysfunction"} {"concept_id": "C0151766", "aliases": [], "types": ["T033"], "definition": "Atypical results found on serum liver enzyme testing, which may indicate significant disease and/or disease progression.", "canonical_name": "Abnormal liver function tests"} {"concept_id": "C0151779", "aliases": ["Skin cancer (melanoma)"], "types": ["T191"], "definition": "A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.", "canonical_name": "Cutaneous melanoma"} {"concept_id": "C0151786", "aliases": ["Muscle weakness"], "types": ["T184"], "definition": "A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)", "canonical_name": "Muscular weakness"} {"concept_id": "C0151787", "aliases": ["Myeloid maturation arrest in bone marrow"], "types": ["T049"], "canonical_name": "Myeloid maturation arrest", "definition": "Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. [PMID:23233578]"} {"concept_id": "C0151798", "aliases": [], "types": ["T047"], "definition": "A necrotic process affecting the hepatic parenchyma.", "canonical_name": "Hepatic necrosis"} {"concept_id": "C0151799", "aliases": ["Skin necrosis"], "types": ["T046"], "definition": "Death of one or more layers of skin.", "canonical_name": "Cutaneous necrosis"} {"concept_id": "C0151811", "aliases": ["Subcutaneous nodules", "Nodule below the skin", "Subcutaneous nodule", "Firm lump under the skin"], "types": ["T046"], "definition": "A small palpable mass in the subcutaneous tissues.", "canonical_name": "Growth of abnormal tissue under the skin"} {"concept_id": "C0151818", "aliases": ["Opisthotonos"], "types": ["T184"], "canonical_name": "Opisthotonus"} {"concept_id": "C0151825", "aliases": [], "types": ["T184"], "definition": "Painful sensation in the bones.", "canonical_name": "Bone pain"} {"concept_id": "C0151827", "aliases": ["Ocular pain"], "types": ["T184"], "definition": "Painful sensation in the eye.", "canonical_name": "Eye pain"} {"concept_id": "C0151854", "aliases": ["Platelet abnormalities"], "types": ["T049"], "definition": "A platelet characterized by a structural or functional abnormality.", "canonical_name": "Abnormality of thrombocytes"} {"concept_id": "C0151857", "aliases": ["Cerebrospinal fluid pleocytosis", "Increased leukocyte count in CSF"], "types": ["T047"], "definition": "Abnormally high cell count in a body fluid.", "canonical_name": "CSF pleocytosis"} {"concept_id": "C0151861", "aliases": [], "types": ["T047"], "definition": "Abnormally increased excretion of porphyrins in the urine. [HPO:probinson]", "canonical_name": "Porphyrinuria"} {"concept_id": "C0151878", "aliases": ["Prolong qt interval on ekg", "Long Q-T syndrome", "Prolonged QT interval"], "types": ["T033"], "definition": "An electrocardiographic finding in which the QT interval not corrected for heart rate is prolonged. Thresholds for different age, gender, and patient populations exist. (CDISC)", "canonical_name": "Long QT syndrome"} {"concept_id": "C0151879", "aliases": [], "types": ["T033"], "definition": "Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). [HPO:probinson]", "canonical_name": "Shortened QT interval"} {"concept_id": "C0151889", "aliases": ["Increased deep tendon reflexes", "Hyperreflexia"], "types": ["T033"], "definition": "Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.", "canonical_name": "Increased reflexes"} {"concept_id": "C0151891", "aliases": ["Fundus hypopigmentation", "Hypopigmentation of the fundus"], "types": ["T047"], "definition": "Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). [ORCID:0000-0003-0986-4123]", "canonical_name": "Decreased fundus pigmentation"} {"concept_id": "C0151900", "aliases": [], "types": ["T033"], "canonical_name": "Increased serum iron"} {"concept_id": "C0151904", "aliases": ["Elevated serum aspartate aminotransferase", "Elevated serum AST", "Aspartate aminotransferase increased", "Elevated circulating aspartate aminotransferase concentration"], "types": ["T033"], "definition": "An increase in the level of aspartate aminotransferase in the blood.", "canonical_name": "Elevated serum glutamic oxaloacetic transaminase"} {"concept_id": "C0151905", "aliases": ["Elevated serum ALT", "Elevated serum glutamic-pyruvic transaminase", "Elevated serum alanine aminotransferase", "Elevated circulating alanine aminotransferase concentration"], "types": ["T033"], "definition": "An increase in the level of alanine aminotransferase in the blood.", "canonical_name": "Alanine aminotransferase increased"} {"concept_id": "C0151908", "aliases": [], "types": ["T184"], "definition": "The pores are generally fine with a papery thin texture that feels dry to the touch. Usually flaky and dull looking.", "canonical_name": "Dry skin"} {"concept_id": "C0151924", "aliases": ["Small intestinal stenosis"], "types": ["T047"], "definition": "Narrowing of the lumen of small intestine.", "canonical_name": "Narrowing of small intestine"} {"concept_id": "C0151934", "aliases": ["Decreased taste sensation", "Hypogeusia"], "types": ["T033"], "definition": "Decreased ability to taste.", "canonical_name": "Decreased taste"} {"concept_id": "C0151937", "aliases": ["Tendon/muscle rupture", "Ruptured tendon", "Rupture of tendons"], "types": ["T037"], "definition": "Breakage (tear) of a tendon. [HPO:probinson, PMID:27047816]", "canonical_name": "Tendon rupture"} {"concept_id": "C0151940", "aliases": [], "types": ["T047"], "definition": "Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. [HPO:probinson]", "canonical_name": "Hypocalcemic tetany"} {"concept_id": "C0151942", "aliases": ["Blood clot in artery"], "types": ["T046"], "definition": "Formation of a blood clot in the lumen of an artery.", "canonical_name": "Arterial thrombosis"} {"concept_id": "C0151945", "aliases": ["Cerebral venous thrombosis", "Cerebral vein thrombosis", "Blood clot in cerebral vein"], "types": ["T047"], "definition": "The formation of a blood clot in a cerebral vein.", "canonical_name": "Cerebral thrombosis"} {"concept_id": "C0151970", "aliases": ["Esophageal ulceration", "Esophagus ulcer", "Oesophagus ulceration"], "types": ["T047"], "definition": "An ulcerated lesion in the esophageal wall.", "canonical_name": "Oesophagus ulcer"} {"concept_id": "C0151990", "aliases": ["Cylindruria"], "types": ["T033"], "definition": "The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine. [Eurenomics:ewuehl, PMID:26079824]", "canonical_name": "Urinary casts"} {"concept_id": "C0151994", "aliases": [], "types": ["T033"], "definition": "An increase in the overall dimensions or volume of the uterus compared to normal.", "canonical_name": "Enlarged uterus"} {"concept_id": "C0152009", "aliases": ["Abnormal leukocyte morphology"], "types": ["T033"], "definition": "An abnormality of leukocytes. [HPO:probinson]", "canonical_name": "Abnormality of leukocytes"} {"concept_id": "C0152013", "aliases": [], "types": ["T191"], "definition": "A carcinoma originating in the lung and the most common lung cancer type in never-smokers. Malignant cells exhibit distinct features such as glandular epithelial, or tubular morphology. Mutations in KRAS, EGFR, BRAF, and ERBB2 genes are associated with this cancer.", "canonical_name": "Lung adenocarcinoma"} {"concept_id": "C0152018", "aliases": [], "types": ["T191"], "definition": "A malignant epithelial tumor arising from the esophageal mucosa. Two major histologic types of esophageal carcinoma have been described: squamous cell carcinoma and adenocarcinoma. This type of cancer is associated with excessive ethanol and cigarette usage.", "canonical_name": "Esophageal carcinoma"} {"concept_id": "C0152020", "aliases": ["Gastroparesis"], "types": ["T047"], "definition": "Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS.", "canonical_name": "Delayed gastric emptying"} {"concept_id": "C0152025", "aliases": [], "types": ["T047"], "definition": "Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance.", "canonical_name": "Polyneuropathy"} {"concept_id": "C0152026", "aliases": [], "types": ["T047"], "definition": "Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS.", "canonical_name": "Retinal vasculitis"} {"concept_id": "C0152031", "aliases": [], "types": ["T033"], "definition": "The presence of swelling in a joint.", "canonical_name": "Joint swelling"} {"concept_id": "C0152032", "aliases": ["Urinary hesitancy"], "types": ["T184"], "definition": "Difficulty in initiating urination.", "canonical_name": "Difficulty with flow"} {"concept_id": "C0152101", "aliases": ["Hypoplastic left heart"], "types": ["T047"], "definition": "A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.", "canonical_name": "Underdeveloped left heart"} {"concept_id": "C0152115", "aliases": ["Orofacial dyskinesias"], "types": ["T047"], "canonical_name": "Orofacial dyskinesia"} {"concept_id": "C0152116", "aliases": ["Spasmodic torticollis"], "types": ["T184"], "definition": "A rare movement disorder of unknown etiology, characterized by painful, involuntary turns of the head to the right, left, upwards, or downwards.", "canonical_name": "Cervical dystonia"} {"concept_id": "C0152131", "aliases": ["Solar retinopathy"], "types": ["T047"], "canonical_name": "Solar retinitis"} {"concept_id": "C0152132", "aliases": [], "types": ["T047"], "definition": "Degenerative changes to the RETINA due to HYPERTENSION.", "canonical_name": "Hypertensive retinopathy"} {"concept_id": "C0152134", "aliases": [], "types": ["T047"], "definition": "An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. [HPO:probinson, PMID:1344079, PMID:21687160, PMID:25145891]", "canonical_name": "Internuclear ophthalmoplegia"} {"concept_id": "C0152158", "aliases": ["Agalactia"], "types": ["T046"], "definition": "Lack of production or secretion of breast milk.", "canonical_name": "Lactation incapacity"} {"concept_id": "C0152171", "aliases": [], "types": ["T047"], "canonical_name": "Primary pulmonary hypertension"} {"concept_id": "C0152173", "aliases": [], "types": ["T047"], "definition": "A disorder characterized by an electrocardiographic finding of a high ventricular rate (180 to 250 beats per minute) with a regular rhythm and large oscillating sine wave-like complexes occurring as a result of QRS complexes and T waves being merged. The P wave is not visible.", "canonical_name": "Ventricular flutter"} {"concept_id": "C0152191", "aliases": ["Central scotomata", "Central scotoma"], "types": ["T033"], "definition": "An area of depressed vision located at the point of fixation and that interferes with central vision. [HPO:probinson]", "canonical_name": "Central blind spot"} {"concept_id": "C0152194", "aliases": [], "types": ["T047"], "definition": "A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision. []", "canonical_name": "Irregular astigmatism"} {"concept_id": "C0152203", "aliases": ["Concomitant strabismus"], "types": ["T047"], "definition": "Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing. []", "canonical_name": "Comitant strabismus"} {"concept_id": "C0152205", "aliases": ["Alternating esotropia"], "types": ["T047"], "definition": "Esotropia in which either eye may be used for fixation. [ORCID:0000-0003-0986-4123]", "canonical_name": "Alternating cross eyes"} {"concept_id": "C0152207", "aliases": ["Alternating exotropia"], "types": ["T047"], "definition": "A type of exotropia in which either eye may be used for fixation. [ORCID:0000-0003-0986-4123]", "canonical_name": "Alternating strabismus"} {"concept_id": "C0152208", "aliases": [], "types": ["T047"], "definition": "Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye.", "canonical_name": "Hypotropia"} {"concept_id": "C0152209", "aliases": [], "types": ["T047"], "definition": "A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia). [ORCID:0000-0003-0986-4123]", "canonical_name": "Cyclotropia"} {"concept_id": "C0152216", "aliases": [], "types": ["T047"], "definition": "A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters. []", "canonical_name": "Esophoria"} {"concept_id": "C0152217", "aliases": [], "types": ["T047"], "definition": "A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia. []", "canonical_name": "Exophoria"} {"concept_id": "C0152219", "aliases": [], "types": ["T047"], "definition": "A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation. [ORCID:0000-0003-0986-4123]", "canonical_name": "Cyclophoria"} {"concept_id": "C0152220", "aliases": [], "types": ["T047"], "definition": "A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards. [ORCID:0000-0003-0986-4123]", "canonical_name": "Alternating hyperphoria"} {"concept_id": "C0152221", "aliases": ["Neurogenic strabismus"], "types": ["T047"], "definition": "An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them. [ORCID:0000-0003-0986-4123]", "canonical_name": "Paralytic strabismus"} {"concept_id": "C0152227", "aliases": ["Watery eyes", "Increased tears", "Epiphora", "Increased lacrimation"], "types": ["T047"], "definition": "Profuse lacrimation.", "canonical_name": "Tearing"} {"concept_id": "C0152234", "aliases": [], "types": ["T019"], "definition": "A rare neural tube defect characterized by extreme retroflexion of the head and severe defects of the spine. It is usually associated with other congenital anomalies.", "canonical_name": "Iniencephaly"} {"concept_id": "C0152236", "aliases": [], "types": ["T019"], "definition": "Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. [HPO:probinson]", "canonical_name": "Talipes valgus"} {"concept_id": "C0152237", "aliases": ["Pes calcaneovarus"], "types": ["T190"], "definition": "Progressive acquired flatfoot in which the arch of the foot is flat only when standing. It is often caused by POSTERIOR TIBIAL TENDON DYSFUNCTION.", "canonical_name": "Talipes calcaneovalgus"} {"concept_id": "C0152240", "aliases": [], "types": ["T019"], "definition": "A congenital duplication of the UTERUS in which a septem is formed separating the uterus. The partitioning septum can also separate the CERVIX and VAGINA.", "canonical_name": "Double uterus"} {"concept_id": "C0152244", "aliases": [], "types": ["T047"], "definition": "Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures.", "canonical_name": "Aneurysmal bone cyst"} {"concept_id": "C0152252", "aliases": ["Anterior synechiae", "Iridocorneal synechia", "Cornea-iris adhesion"], "types": ["T047"], "definition": "Adhesions between the iris and the cornea. [DDD:ncarter]", "canonical_name": "Anterior synechiae of the anterior chamber"} {"concept_id": "C0152253", "aliases": ["Posterior synechiae", "Posterior synechiae of the anterior chamber"], "types": ["T047"], "definition": "Adhesions between the iris and the lens. [DDD:ncarter]", "canonical_name": "Iridolenticular adhesions"} {"concept_id": "C0152255", "aliases": [], "types": ["T047"], "definition": "A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS.", "canonical_name": "Pinguecula"} {"concept_id": "C0152415", "aliases": ["Ankyloglossia", "Tongue tie"], "types": ["T019"], "definition": "A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth.", "canonical_name": "Tongue tied"} {"concept_id": "C0152419", "aliases": ["Interrupted aortic arch"], "types": ["T019"], "definition": "A rare congenital cardiovascular disorder characterized by the presence of a gap between the ascending and descending portions of the thoracic aorta. This disorder is often associated with ventricular septal defect, ductus arteriosus, or truncus arteriosus.", "canonical_name": "Atretic transverse aortic arch"} {"concept_id": "C0152421", "aliases": [], "types": ["T019"], "definition": "Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). [PMID:19152421]", "canonical_name": "Macrotia"} {"concept_id": "C0152422", "aliases": ["Lens agenesis"], "types": ["T019"], "definition": "The absence of the lens of the eye that is present at the time of birth.", "canonical_name": "Congenital aphakia"} {"concept_id": "C0152423", "aliases": ["Hypoplastic pinna", "Hypoplasia of the external ear", "Hypoplastic ears", "Underdeveloped ears", "Microtia", "Bilateral microtia", "Small ears"], "types": ["T019"], "definition": "Underdevelopment of the external ear. [HPO:probinson, PMID:19152421, PMID:3270622]", "canonical_name": "Small pinnae"} {"concept_id": "C0152424", "aliases": ["Single ventricle"], "types": ["T019"], "definition": "An umbrella term used to describe several very different complex congenital heart defects that share the same problem: the heart has only one functional ventricle (anatomically right or left or indeterminate) supplying the systemic circulation. These defects include tricuspid atresia, hypoplastic left or right heart syndrome, double outlet right ventricle, double inlet left ventricle, and other forms of single ventricle defects.", "canonical_name": "Common ventricle"} {"concept_id": "C0152426", "aliases": [], "types": ["T019"], "definition": "A rare and severe form of neural tube defect in which there are open cranial and open spinal defects at birth.", "canonical_name": "Craniorachischisis"} {"concept_id": "C0152427", "aliases": ["More than five fingers or toes on hands or feet"], "types": ["T019"], "definition": "A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.", "canonical_name": "Polydactyly"} {"concept_id": "C0152436", "aliases": [], "types": ["T019"], "definition": "A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. [PMID:24822139]", "canonical_name": "Imperforate hymen"} {"concept_id": "C0152438", "aliases": ["High scapula", "Sprengel deformity", "High shoulder blade", "Congenital, upward displacement of the scapula"], "types": ["T019"], "definition": "A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). [HPO:probinson]", "canonical_name": "Sprengel anomaly"} {"concept_id": "C0152439", "aliases": [], "types": ["T047"], "definition": "A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis.", "canonical_name": "Retinoschisis"} {"concept_id": "C0152441", "aliases": ["Madelung deformity"], "types": ["T019"], "definition": "An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. [HPO:probinson, PMID:12362035]", "canonical_name": "Madelung wrist deformity"} {"concept_id": "C0152443", "aliases": [], "types": ["T047"], "definition": "A pouch or sac-like protrusion in the urethra.", "canonical_name": "Urethral diverticulum"} {"concept_id": "C0152444", "aliases": [], "types": ["T047"], "definition": "Abnormal widening of the central spinal canal.", "canonical_name": "Hydromyelia"} {"concept_id": "C0152454", "aliases": ["Eyelid adhesion to globe of eye", "Symblepharon"], "types": ["T046"], "definition": "A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. [GOC:MG, http://en.wikipedia.org/wiki/Symblepharon]", "canonical_name": "Eyelid stuck to eyeball"} {"concept_id": "C0152457", "aliases": ["Fleischer-Kayser ring", "Kayser-Fleischer ring", "Fleischer's ring"], "types": ["T047"], "definition": "Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. [HPO:SKOEHLER]", "canonical_name": "Fleischer-Struempell ring"} {"concept_id": "C0152458", "aliases": ["Leukocoria", "White pupillary reflex"], "types": ["T047"], "definition": "An abnormal white reflection from the pupil rather than the usual black reflection. [HPO:probinson]", "canonical_name": "Leukokoria"} {"concept_id": "C0152459", "aliases": ["Striae", "Striae distensae", "Striae cutis distensae", "Striae atrophicae", "Purplish striae"], "types": ["T020"], "definition": "Parallel red lines of stretched skin which eventually become whitish. Pregnancy, weight gain and corticosteroids usage are predisposing conditions.", "canonical_name": "Stretch marks"} {"concept_id": "C0152491", "aliases": ["Salmonella osteomyelitis"], "types": ["T047"], "definition": "Osteomyelitis caused by infection with the bacteria, salmonella. [PMID:26668420]", "canonical_name": "Salmonella bone infection"} {"concept_id": "C0153259", "aliases": [], "types": ["T047"], "definition": "A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges. [PMID:27927853]", "canonical_name": "Coccidioidal meningitis"} {"concept_id": "C0153567", "aliases": [], "types": ["T191"], "definition": "Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.", "canonical_name": "Uterine cancer"} {"concept_id": "C0153594", "aliases": [], "types": ["T191"], "definition": "A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma.", "canonical_name": "Testicular cancer"} {"concept_id": "C0153619", "aliases": [], "types": ["T191"], "definition": "A primary or metastatic malignant tumor involving the ureter. The majority are carcinomas.", "canonical_name": "ureter, cancer of"} {"concept_id": "C0154141", "aliases": [], "types": ["T047"], "canonical_name": "Thyrotoxicosis with toxic single thyroid nodule"} {"concept_id": "C0154143", "aliases": ["Thyrotoxicosis with toxic multinodular goitre"], "types": ["T047"], "canonical_name": "Thyrotoxicosis with toxic multinodular goiter"} {"concept_id": "C0154148", "aliases": [], "types": ["T047"], "canonical_name": "Thyrotoxicosis from ectopic thyroid tissue"} {"concept_id": "C0154307", "aliases": [], "types": ["T047"], "definition": "Portal hypertension without known risk factors for hypertension, e.g., HEPATIC CIRRHOSIS and SCHISTOSOMIASIS. Idiopathic Noncirrhotic Portal Hypertension is most often associated with pathology in the PORTAL SYSTEM vasculature.", "canonical_name": "Idiopathic non-cirrhotic portal hypertension"} {"concept_id": "C0154671", "aliases": ["Neuroaxonal degeneration in the brain", "Degeneration of cerebrum", "Brain degeneration"], "types": ["T047"], "definition": "result of genetic metabolic defects or damage by exogenous or endogenous toxins; characterized by cerebral cortex atrophy and progressive cerebral demyelination; dementia and mental deterioration are common.", "canonical_name": "Cerebral degeneration"} {"concept_id": "C0154676", "aliases": [], "types": ["T047"], "definition": "A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. [HPO:probinson]", "canonical_name": "Writer's cramp"} {"concept_id": "C0154681", "aliases": ["Anterior horn cell disease", "Abnormal anterior horn cell morphology", "Anomaly of the anterior horn cells"], "types": ["T047"], "definition": "Any anomaly of the anterior horn cell. [HPO:probinson]", "canonical_name": "Abnormality of the anterior horn cells"} {"concept_id": "C0154694", "aliases": ["Spastic hemiparesis"], "types": ["T047"], "definition": "A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.", "canonical_name": "Spastic hemiplegia"} {"concept_id": "C0154723", "aliases": [], "types": ["T047"], "definition": "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.", "canonical_name": "Migraine with aura"} {"concept_id": "C0154822", "aliases": ["Serous retinal detachment"], "types": ["T047"], "definition": "Retinal detachment secondary to fluid accumulation under the neurosensory retina without a retinal tear or break.", "canonical_name": "Exudative retinal detachment"} {"concept_id": "C0154828", "aliases": [], "types": ["T046"], "definition": "Retinal detachment secondary to vasoproliferative changes in the retina and/or vitreous.", "canonical_name": "Tractional retinal detachment"} {"concept_id": "C0154832", "aliases": [], "types": ["T047"], "definition": "A group of rare, idiopathic, congenital retinal vascular anomalies affecting the retinal capillaries. It is characterized by dilation and tortuosity of retinal vessels and formation of multiple aneurysms, with different degrees of leakage and exudates emanating from the blood vessels.", "canonical_name": "Exudative retinopathy"} {"concept_id": "C0154834", "aliases": [], "types": ["T046"], "definition": "A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells. [ORCID:0000-0002-6601-2165, PMID:23371018, PMID:24425852]", "canonical_name": "Retinal microaneurysm"} {"concept_id": "C0154835", "aliases": [], "types": ["T047"], "definition": "Dilatation of small blood vessels of the retina. [HPO:probinson]", "canonical_name": "Retinal telangiectasia"} {"concept_id": "C0154841", "aliases": [], "types": ["T047"], "definition": "Blockage of the central retinal vein.", "canonical_name": "Central retinal vein occlusion"} {"concept_id": "C0154850", "aliases": ["Cystic macular degeneration"], "types": ["T047"], "definition": "A form of macular degeneration characterized by the presence of multiple cysts in the macula. [HPO:probinson]", "canonical_name": "Cystoid macular degeneration"} {"concept_id": "C0154856", "aliases": [], "types": ["T047"], "canonical_name": "Lattice retinal degeneration"} {"concept_id": "C0154916", "aliases": ["Iris neovascularization", "New blood vessel formation in iris", "Neovascularization of the iris"], "types": ["T047"], "definition": "New growth of vessels on the surface of the iris. [DDD:ncarter]", "canonical_name": "Rubeosis iridis"} {"concept_id": "C0154920", "aliases": ["Reduced iris pigmentation", "Iris hypopigmentation", "Light eye colour"], "types": ["T033"], "definition": "An abnormal reduction in the amount of pigmentation of the iris. [HPO:probinson]", "canonical_name": "Light eye color"} {"concept_id": "C0154936", "aliases": ["Abnormal pupillary morphology", "Pupillary abnormalities", "Pupillary abnormality", "Abnormal pupil morphology"], "types": ["T033"], "definition": "An abnormality of the pupil. [HPO:probinson]", "canonical_name": "Abnormality of the pupil"} {"concept_id": "C0154971", "aliases": ["Presenile cataract"], "types": ["T047"], "definition": "Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. [HPO:probinson, PMID:17030721]", "canonical_name": "Presenile cataracts"} {"concept_id": "C0155016", "aliases": ["Red-green dyschromatopsia", "Dyschromatopsia with red-green confusion", "Red green color blindness"], "types": ["T047"], "definition": "Difficulty with discriminating red and green hues. [DDD:gblack]", "canonical_name": "Red green colour blindness"} {"concept_id": "C0155017", "aliases": ["Dyschromatopsia, blue-yellow", "Blue-yellow dyschromatopsia", "Tritanomaly", "Blue yellow color blindness"], "types": ["T047"], "definition": "Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. [HPO:probinson]", "canonical_name": "Blue yellow colour blindness"} {"concept_id": "C0155094", "aliases": [], "types": ["T047"], "definition": "Superficial vascularization of the cornea with infiltration of granulation tissue; an inflammatory exudate overlying the lining layer of synovial cells on the inside of a joint.", "canonical_name": "Corneal pannus"} {"concept_id": "C0155100", "aliases": ["Peripheral corneal opacity"], "types": ["T033"], "definition": "Reduced transparency of the peripheral region of the cornea. [HPO:probinson]", "canonical_name": "Peripheral opacification of the cornea"} {"concept_id": "C0155116", "aliases": [], "types": ["T190"], "definition": "Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea. [HPO:probinson]", "canonical_name": "Descemet Membrane Folds"} {"concept_id": "C0155118", "aliases": [], "types": ["T047"], "canonical_name": "Corneal degeneration"} {"concept_id": "C0155119", "aliases": ["Recurrent corneal ulcerations", "Recurrent breakdown of clear protective layer of eye", "Recurrent corneal ulceration", "Recurrent corneal erosions"], "types": ["T047"], "definition": "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. [HPO:curators]", "canonical_name": "Corneal erosions, recurrent"} {"concept_id": "C0155120", "aliases": ["Calcific band keratopathy", "Band keratopathy"], "types": ["T047"], "definition": "The deposition of calcium on the cornea, resulting in pain and decreased visual acuity.", "canonical_name": "Band-shaped corneal dystrophy"} {"concept_id": "C0155127", "aliases": ["Biber haab dimmer dystrophy"], "types": ["T047"], "definition": "The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. [HPO:curators]", "canonical_name": "Lattice corneal dystrophy"} {"concept_id": "C0155188", "aliases": [], "types": ["T047"], "definition": "An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle. [ORCID:0000-0003-0986-4123]", "canonical_name": "Involutional entropion"} {"concept_id": "C0155189", "aliases": [], "types": ["T047"], "definition": "A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe. [ORCID:0000-0003-0986-4123]", "canonical_name": "Mechanical entropion"} {"concept_id": "C0155191", "aliases": [], "types": ["T047"], "definition": "Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid. [ORCID:0000-0003-0986-4123]", "canonical_name": "Cicatricial entropion"} {"concept_id": "C0155196", "aliases": [], "types": ["T047"], "definition": "An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. [ORCID:0000-0003-0986-4123]", "canonical_name": "Cicatricial ectropion"} {"concept_id": "C0155197", "aliases": [], "types": ["T047"], "definition": "Inability to close eyelids completely due to facial nerve paralysis (e.g., Bell's Palsy).", "canonical_name": "Paralytic lagophthalmos"} {"concept_id": "C0155199", "aliases": ["Eyelids stay open due to scarring", "Inability to close the eyelids due to scarring"], "types": ["T047"], "definition": "Inability to close eyelids completely secondary to trauma.", "canonical_name": "Cicatricial lagophthalmos"} {"concept_id": "C0155210", "aliases": ["Fatty deposits on eyelids", "Xanthelasma palpebrarum", "Xanthelasma", "Fatty deposits in skin around the eyes", "Xanthoma of eyelid"], "types": ["T047"], "definition": "A condition characterized by the formation of fatty deposits under the skin in the area of the eyelids. These well-demarcated growths, more common in women than men and sometimes hereditary, may indicate elevated cholesterol levels in the blood or the fatty degeneration of the superficial fibers of the orbicularis muscle.", "canonical_name": "Xanthelasma of eyelid"} {"concept_id": "C0155211", "aliases": ["Dark eyelids"], "types": ["T047"], "canonical_name": "Hyperpigmentation of eyelids"} {"concept_id": "C0155218", "aliases": ["Eyelid mass", "Cyst of the eyelid"], "types": ["T047"], "definition": "Localized swelling of the eyelid due to blockage of the meibomian glands, usually caused by inflammation.", "canonical_name": "Eyelid bump"} {"concept_id": "C0155241", "aliases": ["Dacryocystocele"], "types": ["T047"], "definition": "A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction.", "canonical_name": "Timo cyst"} {"concept_id": "C0155244", "aliases": ["Punctal stenosis", "Lacrimal punctum stenosis"], "types": ["T047"], "definition": "Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded. [PMID:22848141]", "canonical_name": "Stenosis of the lacrimal punctum"} {"concept_id": "C0155285", "aliases": ["Cyst of eye socket", "Orbital cyst"], "types": ["T047"], "definition": "Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium). [HPO:probinson]", "canonical_name": "Orbital cysts"} {"concept_id": "C0155299", "aliases": ["Optic nerve coloboma", "Optic disc coloboma", "Optic disk coloboma"], "types": ["T047"], "definition": "A cleft of the optic nerve that extends inferiorly. [HPO:probinson, PMID:16219745]", "canonical_name": "Coloboma of optic nerve"} {"concept_id": "C0155300", "aliases": [], "types": ["T047"], "definition": "Apparent optic disc swelling in the absence of increased intracranial pressure. [HPO:probinson]", "canonical_name": "Pseudopapilledema"} {"concept_id": "C0155336", "aliases": [], "types": ["T047"], "definition": "A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex. [ORCID:0000-0003-0986-4123]", "canonical_name": "Accommodative esotropia"} {"concept_id": "C0155338", "aliases": ["Total internal and external ophthalmoplegia", "Complete ophthalmoplegia", "Global paralysis of gaze"], "types": ["T047"], "definition": "Paralysis of both the extrinsic and intrinsic ocular muscles. [HPO:probinson]", "canonical_name": "Total ophthalmoplegia"} {"concept_id": "C0155339", "aliases": ["Brown syndrome"], "types": ["T047"], "definition": "An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result. [ORCID:0000-0003-0986-4123, PMID:28841851]", "canonical_name": "Brown anomaly"} {"concept_id": "C0155359", "aliases": ["Staphyloma"], "types": ["T047"], "definition": "A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. [HPO:probinson, PMID:22454726]", "canonical_name": "Scleral staphyloma"} {"concept_id": "C0155360", "aliases": [], "types": ["T047"], "definition": "A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. [HPO:probinson, PMID:25376120]", "canonical_name": "Posterior staphyloma"} {"concept_id": "C0155379", "aliases": [], "types": ["T047"], "definition": "Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components. [HPO:curators]", "canonical_name": "Vestibular nystagmus"} {"concept_id": "C0155411", "aliases": ["External auditory canal exostoses"], "types": ["T047"], "definition": "A benign bony growth projecting outward from a bone surface within the external auditory canal. [HPO:probinson]", "canonical_name": "Exostosis of the external auditory canal"} {"concept_id": "C0155552", "aliases": ["Mixed hearing impairment", "Hearing loss, mixed"], "types": ["T047"], "definition": "Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.", "canonical_name": "Mixed hearing loss"} {"concept_id": "C0155675", "aliases": [], "types": ["T047"], "definition": "A congenital or acquired malformation characterized by abnormal communication between the pulmonary arteries and pulmonary veins in the lungs.", "canonical_name": "Pulmonary arteriovenous fistulas"} {"concept_id": "C0155676", "aliases": [], "types": ["T046"], "definition": "An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. [HPO:probinson]", "canonical_name": "Pulmonary artery aneurysm"} {"concept_id": "C0155700", "aliases": ["Mobitz type 2 atrioventricular block"], "types": ["T047"], "definition": "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)", "canonical_name": "Mobitz II atrioventricular block"} {"concept_id": "C0155707", "aliases": [], "types": ["T047"], "definition": "Abnormal conduction in all three divisions of the intraventricular conducting tissue. [DDD:dbrown]", "canonical_name": "Trifascicular block"} {"concept_id": "C0155733", "aliases": ["Atherosclerotic changes of aorta", "Plaque build-up in aorta artery", "Atherosclerosis of the aorta", "Aortic atherosclerotic lesion"], "types": ["T047"], "definition": "The presence of atheromas or atherosclerotic plaques in the aorta. [HPO:probinson, PMID:16818829]", "canonical_name": "Aortic atherosclerosis"} {"concept_id": "C0155734", "aliases": [], "types": ["T047"], "definition": "An atherosclerotic lesion located in the renal artery. []", "canonical_name": "Renal artery atherosclerosis"} {"concept_id": "C0155742", "aliases": [], "types": ["T190"], "definition": "Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. [PMID:25537277]", "canonical_name": "Renal artery aneurysm"} {"concept_id": "C0155760", "aliases": [], "types": ["T047"], "definition": "Sudden breakage of an artery leading to leakage of blood from the circulation. [HPO:probinson]", "canonical_name": "Arterial rupture"} {"concept_id": "C0155773", "aliases": ["Portal vein thrombosis"], "types": ["T047"], "definition": "The formation of a blood clot (thrombus) in the portal vein.", "canonical_name": "Blood clot in portal vein"} {"concept_id": "C0155796", "aliases": [], "types": ["T047"], "definition": "Varicosity of veins in the vulval region. [HPO:probinson]", "canonical_name": "Vulval varicose vein"} {"concept_id": "C0155930", "aliases": [], "types": ["T047"], "definition": "Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)", "canonical_name": "Tooth ankylosis"} {"concept_id": "C0155964", "aliases": ["Smooth tongue", "Smooth surface of tongue"], "types": ["T047"], "definition": "Glossy appearance of the entire tongue surface. [PMID:19125428]", "canonical_name": "Smooth lingual surface"} {"concept_id": "C0156183", "aliases": ["Stricture of the anorectum"], "types": ["T190"], "definition": "Narrowing of the anorectum associated with inflammation or scar tissue. [PMID:25109493]", "canonical_name": "Anorectal stricture"} {"concept_id": "C0156215", "aliases": ["Gall bladder perforation"], "types": ["T037"], "definition": "A rupture in the gallbladder wall caused by traumatic or pathologic processes.", "canonical_name": "Gallbladder perforation"} {"concept_id": "C0156273", "aliases": ["Bladder diverticulum"], "types": ["T190"], "definition": "A pouch or sac-like protrusion in the bladder wall.", "canonical_name": "Bladder diverticula"} {"concept_id": "C0156312", "aliases": ["Testicular degeneration"], "types": ["T047"], "definition": "Loss of testicular volume.", "canonical_name": "Testicular atrophy"} {"concept_id": "C0156372", "aliases": ["Asherman syndrome"], "types": ["T047"], "definition": "A condition with obliterated endometrial cavity causing secondary AMENORRHEA.", "canonical_name": "Uterine synechiae"} {"concept_id": "C0156394", "aliases": ["Clitoral enlargement", "Prominent clitoris", "Enlarged clitoris", "Clitoromegaly", "Hypertrophic clitoris"], "types": ["T047"], "definition": "Hypertrophy of the clitoris. [HPO:probinson]", "canonical_name": "Clitoral hypertrophy"} {"concept_id": "C0156404", "aliases": ["Irregular periods", "Irregular menses", "Menstrual irregularity", "Irregular menstruation"], "types": ["T033"], "definition": "Deviations from the normal process; e.g. delayed, difficult, profuse, scanty, unusual bleeding, etc.", "canonical_name": "Menstrual irregularities"} {"concept_id": "C0157733", "aliases": ["Abnormality of the hair", "Hair abnormality"], "types": ["T033"], "canonical_name": "Abnormal hair morphology", "definition": "An abnormality of the hair. [HPO:probinson]"} {"concept_id": "C0157743", "aliases": [], "types": ["T047"], "definition": "Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. [PMID:26841242]", "canonical_name": "Vibratory urticaria"} {"concept_id": "C0158100", "aliases": ["Recurrent joint dislocations"], "types": ["T037"], "definition": "Dislocation of a given joint repeated times. []", "canonical_name": "Recurrent joint dislocation"} {"concept_id": "C0158113", "aliases": ["Contractures involving the hands", "Contractures of the hands"], "types": ["T190"], "definition": "Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. [HPO:sdoelken]", "canonical_name": "Joint contracture of the hand"} {"concept_id": "C0158118", "aliases": [], "types": ["T020"], "canonical_name": "Multiple joint contractures"} {"concept_id": "C0158266", "aliases": ["Degenerative disc disease", "Degenerative intervertebral disk", "Degeneration of intervertebral discs", "Intervertebral disc degeneration", "Degenerative intervertebral disc"], "types": ["T047"], "definition": "Degenerative changes in the INTERVERTEBRAL DISC due to aging or structural damage, especially to the vertebral end-plates.", "canonical_name": "Degeneration of intervertebral disks"} {"concept_id": "C0158288", "aliases": ["Lumbar spinal stenosis", "Narrow lumbar spinal canal"], "types": ["T047"], "definition": "Spinal stenosis in the lumbar region.", "canonical_name": "Lumbar spinal canal stenosis"} {"concept_id": "C0158328", "aliases": ["Digital flexor tenosynovitis"], "types": ["T047"], "definition": "A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).", "canonical_name": "Trigger finger"} {"concept_id": "C0158465", "aliases": ["Outward turned elbows"], "types": ["T020"], "definition": "Abnormal positioning in which the elbows are turned out. [HPO:probinson]", "canonical_name": "Cubitus valgus"} {"concept_id": "C0158466", "aliases": [], "types": ["T020"], "definition": "A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body. []", "canonical_name": "Cubitus varus"} {"concept_id": "C0158473", "aliases": [], "types": ["T020"], "definition": "Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own. [HPO:jmcmurry, PMID:24839413]", "canonical_name": "Mallet finger"} {"concept_id": "C0158599", "aliases": [], "types": ["T047"], "definition": "Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix. [PMID:24427573]", "canonical_name": "Preauricular cyst"} {"concept_id": "C0158618", "aliases": [], "types": ["T019"], "definition": "Mitral stenosis with congenital onset. [DDD:dbrown]", "canonical_name": "Congenital mitral stenosis"} {"concept_id": "C0158634", "aliases": ["Partial anomalous pulmonary venous connection"], "types": ["T019"], "definition": "A congenital heart disorder in which one or two pulmonary veins are not connected to the left atrium and drain into the right atrium instead. It may lead to arrhythmias and pulmonary hypertension.", "canonical_name": "Partial anomalous pulmonary venous return"} {"concept_id": "C0158646", "aliases": ["Cleft lip/palate"], "types": ["T019"], "definition": "Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both.
A cleft lip happens if the tissue that makes up the lip does not join completely before birth. This causes an opening in the upper lip. The opening can be a small slit or a large opening that goes through the lip into the nose. It can be on one or both sides of the lip or, rarely, in the middle of the lip.
Children with a cleft lip also can have a cleft palate. The roof of the mouth is called the \"palate.\" With a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. Babies may have both the front and back parts of the palate open, or they may have only one part open.
Children with a cleft lip or a cleft palate often have problems with feeding and talking. They also might have ear infections, hearing loss, and problems with their teeth.
Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. Many children have other complications. They may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. With treatment, most children with clefts do well and lead a healthy life.
Centers for Disease Control and Prevention
", "canonical_name": "Cleft lip, cleft palate"} {"concept_id": "C0158663", "aliases": ["Aglossia", "Missing tongue", "Absence of tongue"], "types": ["T019"], "definition": "Absence of the tongue owing to a developmental abnormality. [HPO:probinson]", "canonical_name": "Failure of development of tongue"} {"concept_id": "C0158683", "aliases": [], "types": ["T047"], "definition": "A usually asymptomatic hereditary disorder which is often associated with polycystic kidney disease. It is characterized by the presence of fluid-filled biliary cysts throughout the liver.", "canonical_name": "Polycystic liver disease"} {"concept_id": "C0158713", "aliases": [], "types": ["T019"], "canonical_name": "Congenital bilateral hip dislocation"} {"concept_id": "C0158731", "aliases": ["Pigeon chest"], "types": ["T019"], "definition": "A developmental anomaly characterized by abnormal anterior protrusion of the STERNUM and adjacent COSTAL CARTILAGE.", "canonical_name": "Pectus carinatum"} {"concept_id": "C0158733", "aliases": ["Extra finger", "Finger polydactyly", "Hand polydactyly", "Supernumerary finger"], "types": ["T019"], "definition": "A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. [HPO:probinson]", "canonical_name": "Polydactyly of the hand"} {"concept_id": "C0158734", "aliases": ["Duplication of bones of the toes", "Polydactyly of feet", "Polydactyly of the foot"], "types": ["T019"], "definition": "A kind of polydactyly characterized by the presence of a supernumerary toe or toes. [HPO:probinson]", "canonical_name": "Foot polydactyly"} {"concept_id": "C0158736", "aliases": ["Osseous finger syndactyly"], "types": ["T019"], "definition": "Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\".\" [HPO:sdoelken]", "canonical_name": "Osseous syndactyly of the fingers"} {"concept_id": "C0158738", "aliases": ["Osseous syndactyly of toes"], "types": ["T019"], "definition": "Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as bony\" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\".\" [HPO:sdoelken]", "canonical_name": "Osseous syndactyly of the toes"} {"concept_id": "C0158761", "aliases": ["Fused forearm bones"], "types": ["T019"], "definition": "An abnormal osseous union (fusion) between the radius and the ulna. [HPO:probinson]", "canonical_name": "Radioulnar synostosis"} {"concept_id": "C0158763", "aliases": ["Macrodactyly of finger"], "types": ["T019"], "definition": "A type of Macrodactyly affecting one or several fingers. [HPO:probinson]", "canonical_name": "Macrodactyly of hands"} {"concept_id": "C0158768", "aliases": ["Macrodactyly of toe"], "types": ["T019"], "definition": "A type of Macrodactyly affecting one or several toes. [HPO:probinson]", "canonical_name": "Foot macrodactyly"} {"concept_id": "C0158776", "aliases": ["Absent vertebra"], "types": ["T019"], "definition": "A developmental defect characterized by agenesis of one or more vertebral bodies. [PMID:26167231]", "canonical_name": "Absent vertebrae"} {"concept_id": "C0158779", "aliases": [], "types": ["T019"], "definition": "A supernumerary rib developing from an abnormal enlargement of the costal element of the C7 vertebra. This anomaly is found in 1-2% of the population and can put pressure on adjacent structures causing CERVICAL RIB SYNDROME; THORACIC OUTLET SYNDROME; or other conditions.", "canonical_name": "Cervical ribs"} {"concept_id": "C0158947", "aliases": ["Omphalitis"], "types": ["T047"], "definition": "Inflammation of the umbilical cord stump in newborns.", "canonical_name": "Neonatal omphalitis"} {"concept_id": "C0158986", "aliases": ["Neonatal hypoglycemia"], "types": ["T047"], "definition": "Blood glucose concentration below the lower limit of established reference ranges in a newborn.", "canonical_name": "Low blood sugar in newborn"} {"concept_id": "C0159015", "aliases": [], "types": ["T019"], "definition": "Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through. [PMID:32644551]", "canonical_name": "Congenital hydrocele"} {"concept_id": "C0159020", "aliases": [], "types": ["T047"], "definition": "Abnormal hypersynchronous electrical activity in the brain of a newborn which may be associated with stereotyped movements or autonomic changes.", "canonical_name": "Neonatal seizure"} {"concept_id": "C0159054", "aliases": ["Abnormal sputum"], "types": ["T033"], "definition": "Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. []", "canonical_name": "Abnormal sputum morphology"} {"concept_id": "C0159060", "aliases": [], "types": ["T033"], "definition": "An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis. []", "canonical_name": "Abnormal bowel sounds"} {"concept_id": "C0159066", "aliases": ["Rigid abdomen"], "types": ["T184"], "definition": "Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area. []", "canonical_name": "Abdominal rigidity"} {"concept_id": "C0159104", "aliases": ["Abnormal electrooculogram"], "types": ["T033"], "definition": "The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation. [PMID:21298321]", "canonical_name": "Abnormal EOG"} {"concept_id": "C0159321", "aliases": ["bone facial bone"], "types": ["T037"], "definition": "A partial or complete breakage of the facial bone. []", "canonical_name": "Fractured facial bone"} {"concept_id": "C0159667", "aliases": ["bone scapula"], "types": ["T037"], "definition": "A partial or complete breakage of the scapula. []", "canonical_name": "Fractured scapula"} {"concept_id": "C0159849", "aliases": ["bone patella"], "types": ["T037"], "definition": "Fractures of the PATELLA.", "canonical_name": "Fractured patella"} {"concept_id": "C0159877", "aliases": ["bone ankle joint"], "types": ["T037"], "definition": "Fractures of any of the bones of the ANKLE.", "canonical_name": "Fractured ankle"} {"concept_id": "C0159970", "aliases": ["Knee dislocations", "Knee dislocation"], "types": ["T037"], "definition": "Slippage of the FEMUR off the TIBIA.", "canonical_name": "Dislocations of the knees"} {"concept_id": "C0162119", "aliases": ["Decreased hemoglobin"], "types": ["T033"], "definition": "A laboratory test result demonstrating decreased levels of hemoglobin in a biological specimen.", "canonical_name": "Decreased haemoglobin"} {"concept_id": "C0162154", "aliases": ["Sunken or indented skin due to damage", "Thin, atrophic scars"], "types": ["T046"], "definition": "Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. [HPO:probinson]", "canonical_name": "Atrophic scars"} {"concept_id": "C0162275", "aliases": ["Ketonuria", "Ketonaciduria", "Ketone bodies in urine", "Ketoaciduria"], "types": ["T033"], "definition": "The presence of ketone bodies in the urine.", "canonical_name": "Acetonuria"} {"concept_id": "C0162283", "aliases": [], "types": ["T047"], "definition": "A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY.", "canonical_name": "Nephrogenic diabetes insipidus"} {"concept_id": "C0162285", "aliases": ["Oedema of the eyelids", "Puffy eyelids", "Fullness of eyelids", "Edema of the eyelids", "Swelling of eyelids", "Palpebral edema", "Eyelid edema", "Puffy lids", "Palpebral oedema"], "types": ["T046"], "definition": "Edema in the region of the eyelids. [HPO:probinson]", "canonical_name": "Eyelid oedema"} {"concept_id": "C0162292", "aliases": ["Ophthalmoplegia externa", "External ophthalmoplegia"], "types": ["T047"], "definition": "Paralysis of the external ocular muscles. [HPO:probinson]", "canonical_name": "Paralysis or weakness of muscles within or surrounding outer part of eye"} {"concept_id": "C0162297", "aliases": ["Breathing cessation"], "types": ["T046"], "definition": "Cessation of breathing function.", "canonical_name": "Respiratory arrest"} {"concept_id": "C0162298", "aliases": ["Stiff joint", "Joint stiffness"], "types": ["T184"], "definition": "A sensation of discomfort and tightness while moving a joint. Typically there is decreased joint range of motion. Causes include arthritis, joint overuse, joint injury, and the aging process.", "canonical_name": "Stiff joints"} {"concept_id": "C0162316", "aliases": ["Iron deficiency anaemia", "Ferropenic", "Iron-deficiency anaemia", "Iron-deficiency anemia"], "types": ["T047"], "definition": "Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased.", "canonical_name": "Iron deficiency anemia"} {"concept_id": "C0162323", "aliases": [], "types": ["T047"], "definition": "An arthritis affecting five or more separate joints.", "canonical_name": "Polyarticular arthritis"} {"concept_id": "C0162359", "aliases": [], "types": ["T047"], "definition": "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.", "canonical_name": "Hypohidrotic ectodermal dysplasia"} {"concept_id": "C0162361", "aliases": [], "types": ["T047"], "definition": "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.", "canonical_name": "Hidrotic ectodermal dysplasia"} {"concept_id": "C0162429", "aliases": [], "types": ["T047"], "definition": "An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement.", "canonical_name": "Malnutrition"} {"concept_id": "C0162538", "aliases": ["Decreased circulating IgA level", "Decreased IgA", "Decreased immunoglobulin A", "Gamma-A globulin deficiency", "IgA deficiency", "Low levels of immunoglobulin A"], "types": ["T047"], "definition": "A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN A.", "canonical_name": "Reduced IgA levels"} {"concept_id": "C0162557", "aliases": ["Acute liver failure", "Acute hepatic failure"], "types": ["T047"], "definition": "A form of rapid-onset LIVER FAILURE, also known as fulminant hepatic failure, caused by severe liver injury or massive loss of HEPATOCYTES. It is characterized by sudden development of liver dysfunction and JAUNDICE. Acute liver failure may progress to exhibit cerebral dysfunction even HEPATIC COMA depending on the etiology that includes hepatic ISCHEMIA, drug toxicity, malignant infiltration, and viral hepatitis such as post-transfusion HEPATITIS B and HEPATITIS C.", "canonical_name": "Fulminant hepatic failure"} {"concept_id": "C0162627", "aliases": [], "types": ["T047"], "definition": "Skin diseases caused by bacteria.", "canonical_name": "Bacterial infection of skin"} {"concept_id": "C0162670", "aliases": [], "types": ["T047"], "definition": "A group of muscle diseases associated with abnormal mitochondria function.", "canonical_name": "Mitochondrial myopathy"} {"concept_id": "C0162674", "aliases": ["Progressive external ophthalmoplegia", "External ophthalmoplegia, progressive", "Progressive paralysis or weakness of muscles of eye movement", "Chronic progressive external ophthalmoplegia", "CPEO"], "types": ["T047"], "definition": "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)", "canonical_name": "Progressive paralysis or weakness of muscles of eye motility"} {"concept_id": "C0162678", "aliases": ["Neurofibromata", "multiple neurofibromas", "Neurofibromas"], "types": ["T191"], "definition": "A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)", "canonical_name": "Neurofibromatosis"} {"concept_id": "C0162770", "aliases": ["Right ventricular hypertrophy"], "types": ["T047"], "definition": "Enlargement of the RIGHT VENTRICLE of the heart. This increase in ventricular mass is often attributed to PULMONARY HYPERTENSION and is a contributor to cardiovascular morbidity and mortality.", "canonical_name": "Heart right ventricle hypertrophy"} {"concept_id": "C0162819", "aliases": ["Vascular skin abnormality"], "types": ["T047"], "definition": "Skin diseases affecting or involving the cutaneous blood vessels and generally manifested as inflammation, swelling, erythema, or necrosis in the affected area.", "canonical_name": "Skin vascular malformation"} {"concept_id": "C0162834", "aliases": ["Increased skin pigmentation", "Cutaneous hyperpigmentation", "Hyperpigmented lesion", "Skin hyperpigmentation", "Hyperpigmentation of the skin"], "types": ["T046"], "definition": "Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.", "canonical_name": "Patchy darkened skin"} {"concept_id": "C0162835", "aliases": ["Hypopigmentation", "Hypopigmented skin", "Patchy lightened skin", "Hypopigmentation of the skin"], "types": ["T047"], "definition": "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.", "canonical_name": "Skin hypopigmentation"} {"concept_id": "C0162836", "aliases": ["Hidradenitis suppurativa", "Verneuil's disease", "Pyoderma fistulans significa", "Acne inversa"], "types": ["T047"], "definition": "A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.", "canonical_name": "Smoker's boils"} {"concept_id": "C0162870", "aliases": [], "types": ["T190"], "definition": "Abnormal balloon- or sac-like dilatation in the wall of any one of the iliac arteries including the common, the internal, or the external ILIAC ARTERY.", "canonical_name": "Iliac artery aneurysm"} {"concept_id": "C0162871", "aliases": [], "types": ["T190"], "definition": "An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm.", "canonical_name": "Abdominal aortic aneurysm"} {"concept_id": "C0162872", "aliases": [], "types": ["T190"], "definition": "An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.", "canonical_name": "Thoracic aortic aneurysm"} {"concept_id": "C0175683", "aliases": [], "types": ["T047"], "definition": "A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)", "canonical_name": "Citrullinuria"} {"concept_id": "C0175707", "aliases": ["Right isomerism"], "types": ["T019", "T047"], "definition": "A rare heterotaxia characterized by complex congenital heart malformations and abnormal lateralization of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor.", "canonical_name": "Right-sided isomerism"} {"concept_id": "C0175754", "aliases": ["Callosal agenesis", "Agenesis of corpus callosum", "Absent corpus callosum", "Absence of corpus callosum", "Dysplastic or absent corpus callosum", "Agenesis of the corpus callosum"], "types": ["T019"], "definition": "Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.", "canonical_name": "Corpus callosum agenesis"} {"concept_id": "C0175755", "aliases": ["Absent nipple", "Athelia"], "types": ["T019"], "definition": "Congenital failure to develop, and absence of, the nipple. []", "canonical_name": "Absent nipples"} {"concept_id": "C0178416", "aliases": ["Hypoplastic anaemia", "Hypoplastic anemia"], "types": ["T047"], "definition": "Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. [HPO:probinson]", "canonical_name": "Erythroid hypoplasia in the bone marrow"} {"concept_id": "C0178417", "aliases": [], "types": ["T048"], "definition": "Inability to experience pleasure due to impairment or dysfunction of normal psychological and neurobiological mechanisms. It is a symptom of many PSYCHOTIC DISORDERS (e.g., DEPRESSIVE DISORDER, MAJOR; and SCHIZOPHRENIA).", "canonical_name": "Anhedonia"} {"concept_id": "C0178421", "aliases": ["Fibroadenosis - breast", "Fibroadenoma of the breast", "Breast fibroadenosis", "Fibroadenosis of breast", "Breast fibroadenomas"], "types": ["T191"], "definition": "A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.", "canonical_name": "Breast fibroadenoma"} {"concept_id": "C0178664", "aliases": ["Glomerular sclerosis"], "types": ["T047"], "definition": "A hardening of the kidney glomerulus caused by scarring of the blood vessels.", "canonical_name": "Glomerulosclerosis"} {"concept_id": "C0205081", "aliases": [], "types": ["T080"], "definition": "Privacy metadata indicating the level of protection required to safeguard personal and healthcare information, which if disclosed without authorization, would present a moderate risk of harm to an individual's reputation and sense of privacy.
Usage Note:The level of protection afforded moderately confidential information is dictated by privacy policies intended to engender trust in a service provider. May include publicly available information in jurisdictions that restrict uses of that information without the consent of the data subject.Privacy policies mandating moderate levels of protection, which preempt less protective privacy policies. \"Moderate\" confidentiality policies differ from and would be preempted by the prevailing privacy policies mandating the normative level of protection for information used in the delivery and management of healthcare.
Confidentiality code total order hierarchy: Moderate (M) is less protective thanV, R, and N*, and subsumes all other protection levels (i.e., *Land *U*).Examples:Includes personal and health information that an individual authorizes to be collected, accessed, used or disclosed to a bank for a health credit card or savings account; to health oversight authorities; to a hospital patient directory; to worker compensation, disability, property and casualty or life insurers; and to personal health record systems, consumer-controlled devices, social media accounts and online Apps; or for marketing purposes", "canonical_name": "Moderate"} {"concept_id": "C0205082", "aliases": [], "types": ["T033"], "definition": "Intensely bad or unpleasant in degree, quality or extent.", "canonical_name": "Severe"} {"concept_id": "C0205092", "aliases": [], "types": ["T082"], "definition": "Involving only one part or side.", "canonical_name": "Unilateral"} {"concept_id": "C0205093", "aliases": [], "types": ["T082"], "definition": "Situated at or extending to the side.", "canonical_name": "Lateral"} {"concept_id": "C0205099", "aliases": [], "types": ["T082"], "definition": "A point or area that is approximately central within some larger region or structure.", "canonical_name": "Central"} {"concept_id": "C0205100", "aliases": [], "types": ["T082"], "definition": "On or near an edge or constituting an outer boundary; the outer area.", "canonical_name": "Peripheral"} {"concept_id": "C0205107", "aliases": [], "types": ["T082"], "definition": "Situated nearest to a point of attachment or origin.", "canonical_name": "Proximal"} {"concept_id": "C0205108", "aliases": ["Distal"], "types": ["T082"], "definition": "Situated farthest from a point of attachment or origin, as of a limb or bone; or directed away from the midline of the body.", "canonical_name": "Outermost"} {"concept_id": "C0205111", "aliases": [], "types": ["T082"], "definition": "Relating to or located at the tip (an apex).", "canonical_name": "Apical"} {"concept_id": "C0205131", "aliases": [], "types": ["T082"], "definition": "Situated on or along or in the direction of an axis.", "canonical_name": "Axial"} {"concept_id": "C0205178", "aliases": ["Acute"], "types": ["T079"], "definition": "Having a severe and rapid onset of symptoms with short duration.", "canonical_name": "Acute onset"} {"concept_id": "C0205189", "aliases": ["Borderline"], "types": ["T080"], "canonical_name": "Borderline", "definition": "Straddling the dividing line between two categories."} {"concept_id": "C0205191", "aliases": [], "types": ["T079"], "definition": "Usually used to describe a condition that is persistent and long standing.", "canonical_name": "Chronic"} {"concept_id": "C0205219", "aliases": [], "types": ["T082"], "definition": "Widely spread; not localized or confined.", "canonical_name": "Diffuse"} {"concept_id": "C0205234", "aliases": [], "types": ["T082"], "definition": "Limited to a specific area.", "canonical_name": "Focal"} {"concept_id": "C0205246", "aliases": ["Generalized"], "types": ["T082"], "definition": "Widespread, broadly dispersed, common.", "canonical_name": "Generalised"} {"concept_id": "C0205267", "aliases": [], "types": ["T079"], "definition": "Periodically stopping and starting.", "canonical_name": "Intermittent"} {"concept_id": "C0205269", "aliases": [], "types": ["T169"], "definition": "Not responding to treatment.", "canonical_name": "Refractory"} {"concept_id": "C0205292", "aliases": [], "types": ["T082"], "definition": "Arising from, pertaining to, or having many locations.", "canonical_name": "Multifocal"} {"concept_id": "C0205329", "aliases": ["Progressive"], "types": ["T169"], "definition": "Advancing in extent or severity.", "canonical_name": "Worsens with time"} {"concept_id": "C0205360", "aliases": [], "types": ["T080"], "definition": "The quality of being free from change or variation or not taking part readily in chemical change.", "canonical_name": "Stable"} {"concept_id": "C0205365", "aliases": [], "types": ["T079"], "definition": "A disease characteristic falling between acute and chronic, but predominantly acute.", "canonical_name": "Subacute"} {"concept_id": "C0205374", "aliases": [], "types": ["T079"], "definition": "Not permanent; not lasting; lacking continuity or regularity.", "canonical_name": "Transient"} {"concept_id": "C0205700", "aliases": [], "types": ["T047"], "definition": "myocardial disease characterized by general increase in bulk of the myocardium due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells; involving mainly the interventricular septum, interfering with left ventricular emptying.", "canonical_name": "Asymmetric septal hypertrophy"} {"concept_id": "C0205711", "aliases": [], "types": ["T047"], "definition": "A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)", "canonical_name": "Sudanophilic leukodystrophy"} {"concept_id": "C0205748", "aliases": ["Atypical nevus", "Dysplastic Nevus"], "types": ["T191"], "definition": "Solitary or multiple, slightly raised pigmented melanocytic lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.", "canonical_name": "Atypical mole"} {"concept_id": "C0205768", "aliases": [], "types": ["T191"], "definition": "A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)", "canonical_name": "Subependymal giant-cell astrocytoma"} {"concept_id": "C0205770", "aliases": [], "types": ["T191"], "definition": "A usually benign neoplasm that arises from the cuboidal epithelium of the choroid plexus and takes the form of an enlarged CHOROID PLEXUS, which may be associated with oversecretion of CSF. The tumor usually presents in the first decade of life with signs of increased intracranial pressure including HEADACHES; ATAXIA; DIPLOPIA; and alterations of mental status. In children it is most common in the lateral ventricles and in adults it tends to arise in the fourth ventricle. Malignant transformation to choroid plexus carcinomas may rarely occur. (Adams et al., Principles of Neurology, 6th ed, p667; DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072)", "canonical_name": "Choroid plexus papilloma"} {"concept_id": "C0205788", "aliases": ["Epithelioid hemangioma"], "types": ["T191"], "definition": "A hemangioma characterized by the presence of epithelioid endothelial cells.", "canonical_name": "Angiolymphoid hyperplasia with eosinophilia"} {"concept_id": "C0205834", "aliases": ["Multiple meningiomata"], "types": ["T191"], "definition": "The presence of multiple meningiomas in the leptomeninges.", "canonical_name": "Multifocal meningiomata"} {"concept_id": "C0205854", "aliases": [], "types": ["T191"], "definition": "A benign or malignant, primary or metastatic epithelial neoplasm affecting the glandular cells.", "canonical_name": "Glandular cell neoplasm"} {"concept_id": "C0205874", "aliases": [], "types": ["T191"], "definition": "A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva.", "canonical_name": "Squamous Papilloma"} {"concept_id": "C0205898", "aliases": ["Pinealoblastoma"], "types": ["T191"], "definition": "A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course.", "canonical_name": "Pineoblastoma"} {"concept_id": "C0205929", "aliases": ["Anal fistula"], "types": ["T020"], "definition": "An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. [HPO:probinson]", "canonical_name": "Fistula in ano"} {"concept_id": "C0206061", "aliases": [], "types": ["T047"], "definition": "Inflammation of interstitial lung tissue, usually associated with infection.", "canonical_name": "Interstitial pneumonitis"} {"concept_id": "C0206093", "aliases": [], "types": ["T191"], "definition": "Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.", "canonical_name": "Neuroectodermal neoplasm"} {"concept_id": "C0206132", "aliases": ["Age of onset", "Age symptoms begin"], "types": ["T081"], "definition": "The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.", "canonical_name": "Onset"} {"concept_id": "C0206160", "aliases": ["Increased reticulocyte count", "Reticulocytosis", "Increased reticulocytes", "Increased immature red blood cells"], "types": ["T033"], "definition": "An increase in circulating RETICULOCYTES, which is among the simplest and most reliable signs of accelerated ERYTHROCYTE production. Reticulocytosis occurs during active BLOOD regeneration (stimulation of red bone marrow) and in certain types of ANEMIA, particularly CONGENITAL HEMOLYTIC ANEMIA.", "canonical_name": "Increased number of immature red blood cells"} {"concept_id": "C0206180", "aliases": [], "types": ["T191"], "definition": "A systemic, large-cell, non-Hodgkin, malignant lymphoma characterized by cells with pleomorphic appearance and expressing the CD30 ANTIGEN. These so-called \"hallmark\" cells have lobulated and indented nuclei. This lymphoma is often mistaken for metastatic carcinoma and MALIGNANT HISTIOCYTOSIS.", "canonical_name": "Anaplastic large-cell lymphoma"} {"concept_id": "C0206186", "aliases": [], "types": ["T191"], "definition": "Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.", "canonical_name": "Oral hairy leukoplakia"} {"concept_id": "C0206554", "aliases": ["Ghost teeth", "Teeth with dentinal dysplasia", "Teeth with type iii dentinogenesis imperfecta", "Teeth with thin dentin and large pulp chambers", "Shell teeth"], "types": ["T019"], "definition": "A localized arrested tooth development which appears to involve most commonly the anterior teeth, usually on one side of the midline, most often the maxillary central and lateral incisors. Roentgenographically, the teeth have a ghostlike appearance. Calcification and bits of prismatic enamel may be found in the pulp and the enamel is thin and absent in part. (Jablonski, Illustrated Dictionary of Dentistry, 1982)", "canonical_name": "Odontodysplasia"} {"concept_id": "C0206619", "aliases": ["Lymphatic vessel tumor", "Lymphatic vessel neoplasm"], "types": ["T191"], "definition": "Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels.", "canonical_name": "Lymphatic vessel tumour"} {"concept_id": "C0206620", "aliases": ["Cystic hygroma of the neck"], "types": ["T191"], "definition": "A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin.", "canonical_name": "Cystic hygroma"} {"concept_id": "C0206624", "aliases": [], "types": ["T191"], "definition": "A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed)", "canonical_name": "Hepatoblastoma"} {"concept_id": "C0206631", "aliases": ["Lipomatous tumour"], "types": ["T191"], "definition": "Neoplasms composed of fatty tissue or connective tissue made up of fat cells in a meshwork of areolar tissue. The concept does not refer to neoplasms located in adipose tissue.", "canonical_name": "Lipomatous tumor"} {"concept_id": "C0206634", "aliases": [], "types": ["T191"], "definition": "A liposarcoma containing round mesenchymal cells and a myxoid extracellular matrix in stroma.", "canonical_name": "Myxoid liposarcoma"} {"concept_id": "C0206638", "aliases": ["Giant cell tumor of bone"], "types": ["T191"], "definition": "A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. The tumors range from benign to frankly malignant lesions. The tumor occurs most frequently in an end of a long tubular bone in young adults. (From Dorland, 27th ed; Stedman, 25th ed)", "canonical_name": "Giant cell tumour of bone"} {"concept_id": "C0206640", "aliases": [], "types": ["T191"], "definition": "A benign central bone tumor, usually of the jaws (especially the mandible), composed of fibrous connective tissue within which bone is formed.", "canonical_name": "Ossifying fibroma"} {"concept_id": "C0206643", "aliases": [], "types": ["T191"], "definition": "Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue.", "canonical_name": "Fibrous tissue neoplasm"} {"concept_id": "C0206648", "aliases": [], "types": ["T191"], "definition": "A condition characterized by multiple formations of myofibromas (LEIOMYOMA).", "canonical_name": "Myofibromatosis"} {"concept_id": "C0206655", "aliases": [], "types": ["T191"], "definition": "A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. \"Alveolar\" refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188)", "canonical_name": "Alveolar rhabdomyosarcoma"} {"concept_id": "C0206656", "aliases": [], "types": ["T191"], "definition": "A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)", "canonical_name": "Embryonal rhabdomyosarcoma"} {"concept_id": "C0206657", "aliases": [], "types": ["T191"], "definition": "A variety of rare sarcoma having a reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. It is a rare tumor, usually occurring between 15 and 35 years of age. It appears in the muscles of the extremities in adults and most commonly in the head and neck regions of children. Though slow-growing, it commonly metastasizes to the lungs, brain, bones, and lymph nodes. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1365)", "canonical_name": "Alveolar soft part sarcoma"} {"concept_id": "C0206660", "aliases": [], "types": ["T191"], "definition": "A malignant neoplasm of the germinal tissue of the GONADS; MEDIASTINUM; or pineal region. Germinomas are uniform in appearance, consisting of large, round cells with vesicular nuclei and clear or finely granular eosinophilic-staining cytoplasm. (Stedman, 265th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1642-3)", "canonical_name": "Germinoma"} {"concept_id": "C0206661", "aliases": [], "types": ["T191"], "definition": "A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY.", "canonical_name": "Gonadoblastoma"} {"concept_id": "C0206663", "aliases": ["Primitive neuroectodermal tumour"], "types": ["T191"], "definition": "A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059)", "canonical_name": "Primitive neuroectodermal tumor"} {"concept_id": "C0206667", "aliases": ["Adrenocortical adenomas"], "types": ["T191"], "definition": "A benign neoplasm of the ADRENAL CORTEX. It is characterized by a well-defined nodular lesion, usually less than 2.5 cm. Most adrenocortical adenomas are nonfunctional. The functional ones are yellow and contain LIPIDS. Depending on the cell type or cortical zone involved, they may produce ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE.", "canonical_name": "Adrenocortical adenoma"} {"concept_id": "C0206669", "aliases": ["Liver cell adenoma", "Hepatic adenoma"], "types": ["T191"], "definition": "A benign epithelial tumor of the LIVER.", "canonical_name": "Hepatocellular adenoma"} {"concept_id": "C0206682", "aliases": [], "types": ["T191"], "definition": "An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)", "canonical_name": "Follicular thyroid carcinoma"} {"concept_id": "C0206684", "aliases": ["Sebaceous gland carcinoma"], "types": ["T191"], "definition": "A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)", "canonical_name": "Sebaceous carcinoma"} {"concept_id": "C0206686", "aliases": ["Adrenocortical carcinoma", "Adrenal carcinoma"], "types": ["T191"], "definition": "A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM.", "canonical_name": "Adrenal gland carinoma"} {"concept_id": "C0206698", "aliases": ["Cholangiocarcinoma"], "types": ["T191"], "definition": "A malignant tumor arising from the epithelium of the BILE DUCTS.", "canonical_name": "Bile duct cancer"} {"concept_id": "C0206708", "aliases": [], "types": ["T191"], "definition": "Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade.", "canonical_name": "Cervical intraepithelial neoplasia"} {"concept_id": "C0206711", "aliases": [], "types": ["T191"], "definition": "A tumor composed of cells resembling those of the hair matrix, which undergo 'mummification' and may calcify. It is a relatively uncommon tumor, which may occur at any age from infancy. The majority of patients are under 20, and females are affected more than males. The lesion is usually a solitary deep dermal or subcutaneous tumor 3-30 mm in diameter, situated in the head, neck, or upper extremity. (From Rook et al., Textbook of Dermatology, 4th ed, p2401)", "canonical_name": "Pilomatrixoma"} {"concept_id": "C0206715", "aliases": [], "types": ["T191"], "definition": "Neoplasms composed of neuroepithelial cells, which have the capacity to differentiate into NEURONS, oligodendrocytes, and ASTROCYTES. The majority of craniospinal tumors are of neuroepithelial origin. (From Dev Biol 1998 Aug 1;200(1):1-5)", "canonical_name": "Neuroepithelial neoplasm"} {"concept_id": "C0206716", "aliases": [], "types": ["T191"], "definition": "Rare indolent tumors comprised of neoplastic glial and neuronal cells which occur primarily in children and young adults. Benign lesions tend to be associated with long survival unless the tumor degenerates into a histologically malignant form. They tend to occur in the optic nerve and white matter of the brain and spinal cord.", "canonical_name": "Ganglioglioma"} {"concept_id": "C0206717", "aliases": [], "types": ["T191"], "definition": "A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. It is uncommon (3% of nasal tumors) and rarely is associated with the production of excess hormones (e.g., SIADH, Cushing Syndrome). It has a high propensity for multiple local recurrences and bony metastases. (From Holland et al., Cancer Medicine, 3rd ed, p1245; J Laryngol Otol 1998 Jul;112(7):628-33)", "canonical_name": "Olfactory esthesioneuroblastoma"} {"concept_id": "C0206718", "aliases": [], "types": ["T191"], "definition": "A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea.", "canonical_name": "Ganglioneuroblastoma"} {"concept_id": "C0206728", "aliases": [], "types": ["T191"], "definition": "A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)", "canonical_name": "Plexiform neurofibroma"} {"concept_id": "C0206729", "aliases": ["Neurofibrosarcoma"], "types": ["T191"], "definition": "A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with NEUROFIBROMATOSIS 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)", "canonical_name": "Neurosarcoma"} {"concept_id": "C0206731", "aliases": [], "types": ["T191"], "definition": "A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)", "canonical_name": "Angiofibromas"} {"concept_id": "C0206733", "aliases": ["Capillary hemangioma"], "types": ["T191"], "definition": "A dull red, firm, dome-shaped hemangioma, sharply demarcated from surrounding skin, usually located on the head and neck, which grows rapidly and generally undergoes regression and involution without scarring. It is caused by proliferation of immature capillary vessels in active stroma, and is usually present at birth or occurs within the first two or three months of life. (Dorland, 27th ed)", "canonical_name": "Strawberry birthmark"} {"concept_id": "C0206734", "aliases": ["Haemangioblastoma"], "types": ["T191"], "definition": "A benign tumor of the nervous system that may occur sporadically or in association with VON HIPPEL-LINDAU DISEASE. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with INTRACRANIAL HYPERTENSION, and ataxia. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2071-2)", "canonical_name": "Hemangioblastoma"} {"concept_id": "C0206754", "aliases": ["Neuroendocrine neoplasm"], "types": ["T191"], "definition": "Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition.", "canonical_name": "Neuroendocrine neoplasia"} {"concept_id": "C0220633", "aliases": ["Uveal melanoma"], "types": ["T191"], "definition": "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.", "canonical_name": "Intraocular melanoma"} {"concept_id": "C0220636", "aliases": [], "types": ["T191"], "definition": "A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.", "canonical_name": "Cancer of salivary gland"} {"concept_id": "C0220664", "aliases": ["Type D brachydactyly"], "types": ["T019"], "definition": "This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. [HPO:probinson]", "canonical_name": "Brachydactyly type D"} {"concept_id": "C0220695", "aliases": [], "types": ["T047"], "canonical_name": "Atypical neurofibromatosis"} {"concept_id": "C0220697", "aliases": ["Postaxial polydactyly", "Postaxial hexadactyly"], "types": ["T047"], "definition": "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. [HPO:probinson]", "canonical_name": "Polydactyly, postaxial"} {"concept_id": "C0220763", "aliases": [], "types": ["T033"], "canonical_name": "Absent vagina"} {"concept_id": "C0220766", "aliases": ["Congenital adrenal hypoplasia"], "types": ["T019"], "definition": "A rare genetic disorder that affects the adrenal gland. It usually presents in infancy with signs and symptoms of adrenal insufficiency. If it is not recognized and treated promptly, it may be lethal.", "canonical_name": "Congenital adrenal gland hypoplasia"} {"concept_id": "C0220981", "aliases": [], "types": ["T046"], "definition": "Increased acidity in the blood secondary to acid base imbalance. Causes include diabetes, kidney failure and shock.", "canonical_name": "Metabolic acidosis"} {"concept_id": "C0220982", "aliases": [], "types": ["T046"], "definition": "Acidosis resulting from accumulation of ketone bodies. [HPO:probinson]", "canonical_name": "Ketoacidosis"} {"concept_id": "C0220983", "aliases": [], "types": ["T046"], "definition": "Abnormally increased pH levels in the blood due to excessive loss of acid and/or accumulation of base.", "canonical_name": "Metabolic alkalosis"} {"concept_id": "C0220988", "aliases": ["Xanthinuria"], "types": ["T047"], "definition": "An increased concentration of xanthine in the urine. [HPO:gcarletti]", "canonical_name": "Increased urinary xanthine"} {"concept_id": "C0220992", "aliases": ["Hyperhistidinemia", "High blood histidine level"], "types": ["T047"], "definition": "autosomal recessive aminoacidopathy due to deficiency of histidine ammonia-lyase; characterized by accumulation of histidine in serum and urinary excretion of histidine and metabolites, but is usually benign; may cause mild central nervous system dysfunction.", "canonical_name": "Histidinemia"} {"concept_id": "C0220993", "aliases": ["High urine cystathionine levels"], "types": ["T047"], "definition": "An autosomal recessive disorder caused by mutations in the CTH gene, encoding cystathionine gamma-lyase. The condition is characterized by increased concentrations of cystathionine in the plasma and urine.", "canonical_name": "Cystathioninuria"} {"concept_id": "C0220998", "aliases": ["Tertiary hypothyroidism"], "types": ["T047"], "definition": "Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone.", "canonical_name": "Hypothalamic hypothyroidism"} {"concept_id": "C0221002", "aliases": [], "types": ["T047"], "definition": "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.", "canonical_name": "Primary hyperparathyroidism"} {"concept_id": "C0221021", "aliases": ["Microangiopathic hemolytic anemia"], "types": ["T047"], "definition": "Acquired anemia due to destruction of red blood cells by physical trauma such as FIBRIN strands in the blood vessels, artificial heart valve, AORTIC COARCTATION. I can also be associated with hematologic diseases such as DISSEMINATED INTRAVASCULAR COAGULATION; HEMOLYTIC-UREMIC SYNDROME; and THROMBOTIC THROMBOCYTOPENIC PURPURA.", "canonical_name": "Microangiopathic hemolytic anaemia"} {"concept_id": "C0221023", "aliases": ["Cyclic neutropenia"], "types": ["T047"], "definition": "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.", "canonical_name": "CyN"} {"concept_id": "C0221032", "aliases": ["Congenital generalised lipodystrophy"], "types": ["T047"], "definition": "Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.", "canonical_name": "Congenital generalized lipodystrophy"} {"concept_id": "C0221046", "aliases": [], "types": ["T047"], "definition": "A condition in which neurally mediated syncope occurs due to massage of the carotid body. (ACC-AHA)", "canonical_name": "Carotid sinus syncope"} {"concept_id": "C0221106", "aliases": [], "types": ["T047"], "definition": "An abnormally high blood pH (usually defined as 7.41 or above). [PMID:24381489]", "canonical_name": "Alkalemia"} {"concept_id": "C0221150", "aliases": ["Odynophagia"], "types": ["T184"], "definition": "Pain upon swallowing.", "canonical_name": "Painful swallowing"} {"concept_id": "C0221151", "aliases": [], "types": ["T184"], "definition": "Forceful expulsion of the contents of the stomach through the mouth.", "canonical_name": "Projectile vomiting"} {"concept_id": "C0221158", "aliases": ["Chaotic atrial tachycardia", "Multifocal atrial tachycardia"], "types": ["T033"], "definition": "An electrocardiographic finding of a supraventricular arrhythmia characterized by 3 or more distinct P wave morphologies with an isoelectric baseline, variable PR intervals and no predominant atrial rhythm. The ventricular rate is typically 100-150 beats per minute. (CDISC)", "canonical_name": "Ectopic atrial tachycardia"} {"concept_id": "C0221166", "aliases": ["Partial paralysis of legs"], "types": ["T184"], "definition": "Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions.", "canonical_name": "Paraparesis"} {"concept_id": "C0221168", "aliases": ["Podagra"], "types": ["T047"], "definition": "Gout affecting the Metatarsophalangeal joint of big toe. [HPO:sdoelken]", "canonical_name": "Gout of big toe"} {"concept_id": "C0221169", "aliases": [], "types": ["T047"], "definition": "Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements. [HPO:sdoelken]", "canonical_name": "Hemiballismus"} {"concept_id": "C0221170", "aliases": [], "types": ["T184"], "definition": "A feeling of tension or tightness in one or more muscles.", "canonical_name": "Muscle stiffness"} {"concept_id": "C0221182", "aliases": [], "types": ["T019"], "definition": "Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees. [HPO:probinson, PMID:23650202]", "canonical_name": "Chordee"} {"concept_id": "C0221184", "aliases": [], "types": ["T033"], "canonical_name": "Bitemporal hemianopia"} {"concept_id": "C0221199", "aliases": ["Abnormality of the palm lines"], "types": ["T019"], "definition": "An abnormality of the creases of the skin of palm of hand. [HPO:probinson]", "canonical_name": "Abnormality of the palmar creases"} {"concept_id": "C0221207", "aliases": [], "types": ["T047"], "definition": "Urticaria may be caused by cold temperatures. [PMID:11702618]", "canonical_name": "Cold urticaria"} {"concept_id": "C0221209", "aliases": ["Sacral kidney"], "types": ["T019"], "definition": "A congenital abnormality characterized by the failure of the kidney to ascend to its normal position and it remains in the pelvis.", "canonical_name": "Pelvic kidney"} {"concept_id": "C0221210", "aliases": ["Gut malrotation", "Intestinal malrotation"], "types": ["T019"], "definition": "A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.", "canonical_name": "Malrotation"} {"concept_id": "C0221214", "aliases": ["Vascular ring"], "types": ["T019"], "definition": "An unusual congenital abnormality in which the aorta or aortic branches encircle the trachea and esophagus. Signs and symptoms include difficulty swallowing and eating, persistent cough, noisy breathing, and acid reflex.", "canonical_name": "Vascular ring of aorta"} {"concept_id": "C0221215", "aliases": ["Complete common AV canal", "Complete atrioventricular septal defect", "Atrioventricular canal", "Complete atrioventricular canal defect"], "types": ["T019"], "definition": "Defects of endocardial cushions resulting in low atrial and high ventricular septal defects. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)", "canonical_name": "Common atrioventricular canal"} {"concept_id": "C0221217", "aliases": ["Webbed neck", "Pterygium colli"], "types": ["T019"], "definition": "A congenital, usually bilateral, thick web-like fold of skin that extends from the acromion to the mastoid process. This deformity is associated with Turner Syndrome and Noonan Syndrome.", "canonical_name": "Neck webbing"} {"concept_id": "C0221226", "aliases": ["Palm tree sign"], "types": ["T033"], "definition": "Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins. [PMID:26112857]", "canonical_name": "Caput medusae"} {"concept_id": "C0221227", "aliases": ["Centrilobular emphysema"], "types": ["T047"], "definition": "A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones. [LMU:kknoflach, PMID:18195376, PMID:4014865, PMID:7976869]", "canonical_name": "Centriacinar emphysema"} {"concept_id": "C0221228", "aliases": [], "types": ["T047"], "definition": "Having a black or dark core or plug.", "canonical_name": "Comedo"} {"concept_id": "C0221237", "aliases": ["Inflammation of oral commisures", "Angular stomatitis", "Red and sore corners of the mouth", "Angular cheilosis", "Inflammation of corners of the mouth", "Angular cheilitis"], "types": ["T047"], "definition": "Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts.", "canonical_name": "Commissural cheilitis"} {"concept_id": "C0221243", "aliases": [], "types": ["T047"], "definition": "Recurrent cutaneous manifestation of GLUCAGONOMA characterized by necrolytic polycyclic migratory lesions with scaling borders. It is associated with elevated secretion of GLUCAGON by the tumor. Other conditions with elevated serum glucagon levels such as HEPATIC CIRRHOSIS may also result in similar skin lesions, which are referred to as pseudoglucagonoma syndrome.", "canonical_name": "Necrolytic migratory erythema"} {"concept_id": "C0221245", "aliases": ["Cracked skin"], "types": ["T033"], "definition": "A narrow break in the skin.", "canonical_name": "Skin fissure"} {"concept_id": "C0221248", "aliases": ["Urate tophi"], "types": ["T020"], "definition": "Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi. [PMID:9195521]", "canonical_name": "Urate tophus"} {"concept_id": "C0221252", "aliases": [], "types": ["T047"], "definition": "Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. [PMID:12165227, PMID:22375975]", "canonical_name": "Eruptive xanthomas"} {"concept_id": "C0221253", "aliases": ["Tendon xanthomas"], "types": ["T047"], "definition": "The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). [HPO:probinson]", "canonical_name": "Tendon xanthomatosis"} {"concept_id": "C0221259", "aliases": ["Introversion of eyelashes", "Ingrown eyelashes", "Trichiasis"], "types": ["T047"], "definition": "A disease of the eye in which the eyelashes abnormally turn inwards toward the eyeball producing constant irritation caused by motion of the lids.", "canonical_name": "Trichiasis of eyelid eyelashes"} {"concept_id": "C0221260", "aliases": ["Poor nail formation", "Onychodystrophy", "Nail dystrophy"], "types": ["T047"], "definition": "Deformity or discoloration of a fingernail or toenail.", "canonical_name": "Dystrophic nails"} {"concept_id": "C0221261", "aliases": ["Spoon-shaped nails", "Concave nail"], "types": ["T033"], "definition": "The natural longitudinal (posterodistal) convex arch is not present or is inverted. [PMID:19125433]", "canonical_name": "Koilonychia"} {"concept_id": "C0221262", "aliases": ["White patch", "Poliosis"], "types": ["T047"], "definition": "Circumscribed depigmentation of the hair of the head or the eyelashes. [HPO:probinson]", "canonical_name": "Patch of white hair"} {"concept_id": "C0221263", "aliases": ["Cafe-au-lait macules", "Cafe-au-lait spots", "Cafe-au-lait macule", "Cafe-au-lait spot"], "types": ["T033"], "definition": "Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).", "canonical_name": "Cafe au lait spots"} {"concept_id": "C0221265", "aliases": [], "types": ["T033"], "canonical_name": "Microcytosis"} {"concept_id": "C0221270", "aliases": ["Acanthosis", "Acanthotic epidermis", "Epidermal acanthosis"], "types": ["T033"], "definition": "Diffuse hypertrophy of the stratum spinosum layer of the epidermis.", "canonical_name": "Thickening of upper layer of skin"} {"concept_id": "C0221277", "aliases": ["Abnormal lymphocytes", "Abnormality of cells of the lymphoid lineage"], "types": ["T033"], "definition": "A lymphocyte that may be irregular or not conforming to type.", "canonical_name": "Abnormal lymphocyte morphology"} {"concept_id": "C0221278", "aliases": ["Anisocytosis"], "types": ["T033"], "definition": "The presence of erythrocytes with excessive variation in size in the blood.", "canonical_name": "Unequal size of red blood cells"} {"concept_id": "C0221280", "aliases": [], "types": ["T025"], "canonical_name": "Elliptocyte"} {"concept_id": "C0221281", "aliases": [], "types": ["T033"], "definition": "An increase in the number of abnormally shaped red blood cells.", "canonical_name": "Poikilocytosis"} {"concept_id": "C0221284", "aliases": ["Target cells"], "types": ["T025"], "definition": "Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target. [PMID:27372866, PMID:32965812]", "canonical_name": "Codocytes"} {"concept_id": "C0221285", "aliases": ["Increased rouleaux formation"], "types": ["T033"], "definition": "Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells. [HPO:probinson, PMID:16739263]", "canonical_name": "Rouleaux formation"} {"concept_id": "C0221333", "aliases": ["Hypouricemia"], "types": ["T047"], "definition": "An abnormally low level of uric acid in the blood. [HPO:curators]", "canonical_name": "Low blood uric acid levels"} {"concept_id": "C0221347", "aliases": ["Persistent blue colour of hands or feet", "Acrocyanosis"], "types": ["T033"], "definition": "Persistent, symmetric, and painless blue discoloration of the extremities. It is the result of vasospasm in response to cold. The affected areas are cold and sweaty.", "canonical_name": "Persistent blue color of hands or feet"} {"concept_id": "C0221352", "aliases": ["Partial syndactyly"], "types": ["T019"], "definition": "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\".\" [HPO:curators]", "canonical_name": "Finger syndactyly"} {"concept_id": "C0221353", "aliases": ["Horseshoe kidneys"], "types": ["T019"], "definition": "A congenital abnormality in which the two kidneys fuse together during fetal development to create a horseshoe-shaped structure.", "canonical_name": "Horseshoe kidney"} {"concept_id": "C0221354", "aliases": ["Frontal bossing", "Frontal protruberance"], "types": ["T019"], "definition": "A skeletal deformity characterized by an unusually prominent forehead. Causes include acromegaly, Hurler syndrome, Silver-Russell syndrome, and thalassemia major.", "canonical_name": "Skull bossing"} {"concept_id": "C0221355", "aliases": ["Megalencephaly"], "types": ["T019"], "definition": "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).", "canonical_name": "Macrencephaly"} {"concept_id": "C0221356", "aliases": ["Brachycephaly"], "types": ["T019"], "definition": "Premature closing of both sides of the coronal sutures.", "canonical_name": "Short and broad skull"} {"concept_id": "C0221357", "aliases": ["Short fingers or toes", "Brachydactyly syndrome"], "types": ["T019"], "definition": "Congenital anomaly of abnormally short fingers or toes.", "canonical_name": "Brachydactyly"} {"concept_id": "C0221358", "aliases": ["Large dolichocephalic skull", "Long, narrow head", "Dolichocephaly"], "types": ["T019"], "definition": "An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. [HPO:probinson, PMID:19125436]", "canonical_name": "Tall and narrow skull"} {"concept_id": "C0221360", "aliases": ["Agenesis of the diaphragm", "Agenesis of diaphragm"], "types": ["T019"], "definition": "Congenital lack, i.e., aplasia of the diaphragm. [HPO:probinson]", "canonical_name": "Absent diaphragm"} {"concept_id": "C0221363", "aliases": ["Indentation or clefting of the nose", "Bifid nose"], "types": ["T019"], "definition": "Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. [PMID:19152422]", "canonical_name": "Bifid nasal bridge"} {"concept_id": "C0221365", "aliases": ["Ureteral duplication"], "types": ["T019"], "definition": "A congenital abnormality characterized by the presence of two separate ureters draining a kidney.", "canonical_name": "Double ureter"} {"concept_id": "C0221436", "aliases": ["Melanoderma"], "types": ["T047"], "canonical_name": "Melanodermia"} {"concept_id": "C0221629", "aliases": ["Muscle weakness, proximal", "Proximal limb weakness", "Weakness in muscles of upper arms and upper legs", "Proximal limb muscle weakness"], "types": ["T033"], "definition": "A lack of strength of the proximal muscles. [HPO:probinson]", "canonical_name": "Proximal muscle weakness"} {"concept_id": "C0221766", "aliases": ["Gap between large left and right abdominal muscles"], "types": ["T047"], "definition": "A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). [HPO:probinson]", "canonical_name": "Diastasis recti"} {"concept_id": "C0221785", "aliases": [], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist. [UToronto:chum]", "canonical_name": "Wrist pain"} {"concept_id": "C0222050", "aliases": [], "types": ["T023"], "canonical_name": "Ear hair"} {"concept_id": "C0222706", "aliases": ["Parietal foramina"], "types": ["T030"], "definition": "The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. [HPO:probinson]", "canonical_name": "Persistent foramina of the parietal bones"} {"concept_id": "C0225599", "aliases": [], "types": ["T019"], "definition": "Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced. [ORCID:0000-0002-4095-8489, PMID:11158647, PMID:19332762]", "canonical_name": "Tracheal bronchus"} {"concept_id": "C0226335", "aliases": ["Accessory renal artery", "Double renal artery"], "types": ["T019"], "definition": "An additional renal artery originating from the aorta. Accessory renal arteries are found in 26-30% of humans.", "canonical_name": "Renal artery duplication"} {"concept_id": "C0229197", "aliases": ["Retinal fold"], "types": ["T033"], "definition": "A crease in the retina.", "canonical_name": "Retinal folds"} {"concept_id": "C0231218", "aliases": [], "types": ["T184"], "definition": "A feeling of general discomfort or uneasiness, an out-of-sorts feeling.", "canonical_name": "Malaise"} {"concept_id": "C0231241", "aliases": [], "types": ["T079"], "definition": "To be unstable, having ups and downs.", "canonical_name": "Fluctuating"} {"concept_id": "C0231246", "aliases": ["Weight faltering", "Faltering weight"], "types": ["T033"], "definition": "Slower than normal rate of weight increase.", "canonical_name": "Poor weight gain"} {"concept_id": "C0231254", "aliases": ["Increased BMI"], "types": ["T033"], "definition": "Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages. [PMID:17973940]", "canonical_name": "Increased body mass index"} {"concept_id": "C0231255", "aliases": ["Decreased body mass index"], "types": ["T033"], "definition": "Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages. []", "canonical_name": "Decreased BMI"} {"concept_id": "C0231274", "aliases": ["Intolerance to heat and fevers"], "types": ["T046"], "definition": "The inability to maintain a comfortable body temperature in warm or hot weather. [HPO:probinson]", "canonical_name": "Heat intolerance"} {"concept_id": "C0231471", "aliases": [], "types": ["T033"], "definition": "Involuntary flexion or extension of the arms and legs. [HPO:probinson]", "canonical_name": "Abnormal posturing"} {"concept_id": "C0231521", "aliases": [], "types": ["T184"], "definition": "A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus. [HPO:probinson]", "canonical_name": "Decorticate rigidity"} {"concept_id": "C0231528", "aliases": ["Muscle ache", "Myalgias", "Myalgia"], "types": ["T184"], "definition": "Painful sensation in the muscles.", "canonical_name": "Muscle pain"} {"concept_id": "C0231529", "aliases": [], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon. []", "canonical_name": "Tendon pain"} {"concept_id": "C0231530", "aliases": [], "types": ["T033"], "definition": "The occurrence of a single contraction or a series of contractions of a muscle.", "canonical_name": "Twitching"} {"concept_id": "C0231531", "aliases": [], "types": ["T184"], "definition": "Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. [HPO:probinson]", "canonical_name": "Muscle fibrillation"} {"concept_id": "C0231616", "aliases": [], "types": ["T184"], "definition": "Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. [PMID:2146943]", "canonical_name": "Beevor's sign"} {"concept_id": "C0231666", "aliases": [], "types": ["T033"], "definition": "A condition in which the affected individual cannot extend the wrist, which hangs flaccidly. []", "canonical_name": "Wrist drop"} {"concept_id": "C0231678", "aliases": ["Ulnar deviation of wrists"], "types": ["T184"], "canonical_name": "Ulnar deviation of the wrist"} {"concept_id": "C0231679", "aliases": ["Finger bends toward pinky", "Ulnar deviation of finger"], "types": ["T033"], "definition": "Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. [HPO:probinson, PMID:19125433]", "canonical_name": "Ulnar Drift"} {"concept_id": "C0231685", "aliases": [], "types": ["T033"], "definition": "To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position. [PMID:27770207]", "canonical_name": "Antalgic gait"} {"concept_id": "C0231686", "aliases": ["Gait instability", "Unsteady gait"], "types": ["T033"], "definition": "A shaky or wobbly manner of walking.", "canonical_name": "Unsteady walk"} {"concept_id": "C0231687", "aliases": ["Spastic gait"], "types": ["T033"], "definition": "A pattern of walking found in individuals with chronically-contracted leg muscles in which the affected leg or legs drag in a stiff, semicircular motion during ambulation. This may be seen in patients with cerebral palsy or multiple sclerosis.", "canonical_name": "Spastic walk"} {"concept_id": "C0231688", "aliases": ["Shuffled walk"], "types": ["T033"], "definition": "A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground. []", "canonical_name": "Shuffling gait"} {"concept_id": "C0231690", "aliases": [], "types": ["T184"], "definition": "Nodding movement of the head or body. [HPO:probinson, PMID:4821687]", "canonical_name": "Titubation"} {"concept_id": "C0231698", "aliases": ["Scissor walk", "Scissor gait"], "types": ["T033"], "definition": "A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use. [HPO:probinson]", "canonical_name": "Scissors gait"} {"concept_id": "C0231712", "aliases": ["Waddling walk", "'Waddling' gait"], "types": ["T184"], "definition": "Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. [PMID:27770207]", "canonical_name": "Waddling gait"} {"concept_id": "C0231749", "aliases": [], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. [UToronto:chum]", "canonical_name": "Knee pain"} {"concept_id": "C0231765", "aliases": [], "types": ["T184"], "definition": "Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia. [PMID:12975201]", "canonical_name": "Wilson sign"} {"concept_id": "C0231791", "aliases": [], "types": ["T184"], "canonical_name": "Intoe"} {"concept_id": "C0231807", "aliases": ["Exertional dyspnea", "Shortness of breathing upon physical activity", "Exertional breathlessness"], "types": ["T184"], "definition": "Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. [PMID:29763022]", "canonical_name": "Exertional dyspnoea"} {"concept_id": "C0231819", "aliases": [], "types": ["T033"], "definition": "An abnormal retention of gas in the lungs during expiration, either as a result of complete or partial airway obstruction or as a result of abnormalities in pulmonary compliance.", "canonical_name": "Air trapping"} {"concept_id": "C0231835", "aliases": ["Tachypnea", "Increased respiratory rate or depth of breathing"], "types": ["T033"], "definition": "Abnormal increase of rate of breathing.", "canonical_name": "Polypnea"} {"concept_id": "C0231837", "aliases": [], "types": ["T033"], "definition": "Abnormal decrease of rate of breathing.", "canonical_name": "Bradypnea"} {"concept_id": "C0231852", "aliases": ["Paradoxical breathing"], "types": ["T184"], "definition": "Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing. [HPO:tevangelista]", "canonical_name": "Paradoxical respiration"} {"concept_id": "C0231856", "aliases": ["Abnormal lung auscultation finding"], "types": ["T033"], "definition": "An anomalous (adventitious) sound produced by the breathing process. [HPO:probinson]", "canonical_name": "Abnormal breath sound"} {"concept_id": "C0231873", "aliases": [], "types": ["T033"], "definition": "Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy. [PMID:26229557]", "canonical_name": "Bronchial breath sound"} {"concept_id": "C0231919", "aliases": [], "types": ["T033"], "definition": "A lack of humidification of the nasal mucosa. [LMU:mgriese, PMID:12391797, PMID:20465792]", "canonical_name": "Nasal dryness"} {"concept_id": "C0232132", "aliases": [], "types": ["T033"], "definition": "Weak or absent palpable pulse due to decreased arterial pulse pressure.", "canonical_name": "Weak pulse"} {"concept_id": "C0232180", "aliases": [], "types": ["T033"], "definition": "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. [HPO:probinson]", "canonical_name": "Cardiac shunt"} {"concept_id": "C0232200", "aliases": ["Triple rhythm"], "types": ["T033"], "definition": "In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse. [PMID:15886379]", "canonical_name": "Gallop rhythm"} {"concept_id": "C0232216", "aliases": ["Ventricular escape rhythm"], "types": ["T046"], "definition": "A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms). []", "canonical_name": "Idioventricular escape rhythm"} {"concept_id": "C0232235", "aliases": ["Fixed splitting of the second heart sound"], "types": ["T033"], "definition": "An auscultated finding in which the semilunar valve closure sounds do not vary with respiration. (ACC-AHA)", "canonical_name": "Fixed splitting of S2"} {"concept_id": "C0232236", "aliases": ["Paradoxical splitting of S2", "Reversed splitting of the second heart sound", "Reversed splitting of S2"], "types": ["T033"], "definition": "An auscultated finding in which the pulmonic valve closure sound occurs prior to the aortic valve closure sound. (ACC-AHA)", "canonical_name": "Paradoxical splitting of the second heart sound"} {"concept_id": "C0232237", "aliases": ["Third heart sound", "S3"], "types": ["T033"], "definition": "The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients. []", "canonical_name": "Ventricular gallop"} {"concept_id": "C0232257", "aliases": [], "types": ["T033"], "definition": "Heart murmurs which are systolic in timing. They occur between the first and the second HEART SOUNDS, between the closure of MITRAL VALVE and TRICUSPID VALVE and the closure of semilunar aortic and pulmonary valves. Systolic murmurs include ejection murmurs and regurgitant murmurs.", "canonical_name": "Systolic heart murmur"} {"concept_id": "C0232258", "aliases": [], "types": ["T033"], "definition": "A heart murmur that occurs during the entire systolic interval, from the first to second heart sounds.", "canonical_name": "Holosystolic murmur"} {"concept_id": "C0232259", "aliases": [], "types": ["T033"], "definition": "A heart murmur that occurs during the middle portion of the ventricular ejection phase.", "canonical_name": "Midsystolic murmur"} {"concept_id": "C0232261", "aliases": [], "types": ["T033"], "definition": "A heart murmur that occurs during the last half of the ventricular ejection phase. This may or may not extend to the second heart sound.", "canonical_name": "Late systolic murmur"} {"concept_id": "C0232262", "aliases": [], "types": ["T033"], "definition": "A heart murmur that occurs between ventricular ejection, while the semilunar valves are closed.", "canonical_name": "Diastolic heart murmur"} {"concept_id": "C0232264", "aliases": [], "types": ["T033"], "definition": "A heart murmur that occurs during the middle portion of the ventricular filling phase.", "canonical_name": "Middiastolic murmur"} {"concept_id": "C0232266", "aliases": [], "types": ["T033"], "definition": "A heart murmur that occurs throughout both systole and diastole.", "canonical_name": "Continuous heart murmur"} {"concept_id": "C0232286", "aliases": [], "types": ["T184"], "definition": "A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck. [PMID:18122452]", "canonical_name": "Precordial pain"} {"concept_id": "C0232292", "aliases": ["Tightness of chest", "Tightness in chest"], "types": ["T184"], "definition": "A question about whether an individual feels or has felt tightness in the chest.", "canonical_name": "Chest tightness"} {"concept_id": "C0232296", "aliases": ["Electrical right axis deviation", "RAD"], "types": ["T033"], "definition": "A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used. [PMID:29262101]", "canonical_name": "Right axis deviation"} {"concept_id": "C0232297", "aliases": ["Left axis deviation"], "types": ["T033"], "definition": "An electrocardiographic finding of the Q axis from -30 to -90 degrees.", "canonical_name": "Electrical left axis deviation"} {"concept_id": "C0232301", "aliases": [], "types": ["T033"], "canonical_name": "Ventricular inversion"} {"concept_id": "C0232308", "aliases": [], "types": ["T033"], "definition": "An electrocardiographic finding suggesting underlying hypertrophy or dilatation of the right atrium. Electrocardiographic criteria used for the diagnosis of right atrial abnormality may include a peaked p wave greater than 2.5 millimeters in amplitude in the inferior leads.", "canonical_name": "P pulmonale"} {"concept_id": "C0232310", "aliases": [], "types": ["T033"], "definition": "An electrocardiographic finding suggesting underlying hypertrophy or dilatation of the left atrium. Electrocardiographic criteria used for the diagnosis of left atrial abnormality may include a bifid p wave, a biphasic p wave and/or a p wave duration of greater than 0.12 seconds.", "canonical_name": "P mitrale"} {"concept_id": "C0232370", "aliases": [], "types": ["T033"], "canonical_name": "Plethora"} {"concept_id": "C0232411", "aliases": [], "types": ["T033"], "canonical_name": "Decreased hair growth"} {"concept_id": "C0232461", "aliases": [], "types": ["T033"], "canonical_name": "Increased appetite"} {"concept_id": "C0232462", "aliases": ["Loss of appetite", "Poor appetite"], "types": ["T184"], "definition": "A reduced desire to eat. []", "canonical_name": "Decreased appetite"} {"concept_id": "C0232466", "aliases": ["Feeding problems", "Poor feeding"], "types": ["T033"], "definition": "Interruption or disruption of the intake of food/nutrition.", "canonical_name": "Feeding difficulties"} {"concept_id": "C0232474", "aliases": [], "types": ["T033"], "definition": "Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine. [HPO:probinson]", "canonical_name": "Hyperperistalsis"} {"concept_id": "C0232475", "aliases": [], "types": ["T033"], "definition": "Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. [HPO:probinson]", "canonical_name": "Hypoperistalsis"} {"concept_id": "C0232480", "aliases": ["Geophagy"], "types": ["T048"], "definition": "Compulsive eating of dirt.", "canonical_name": "Geophagia"} {"concept_id": "C0232487", "aliases": [], "types": ["T184"], "canonical_name": "Abdominal discomfort"} {"concept_id": "C0232488", "aliases": [], "types": ["T033"], "definition": "A clinical syndrome with intermittent abdominal pain characterized by sudden onset and cessation that is commonly seen in infants. It is usually associated with obstruction of the INTESTINES; of the CYSTIC DUCT; or of the URINARY TRACT.", "canonical_name": "Abdominal colic"} {"concept_id": "C0232493", "aliases": ["Epigastric pain"], "types": ["T184"], "definition": "The location of the pain is in the upper and middle region of the abdomen, located within the sternal angle.", "canonical_name": "Epigastrium pain"} {"concept_id": "C0232513", "aliases": ["Premature teeth loss", "Early tooth loss", "Premature loss of teeth", "Premature tooth loss"], "types": ["T033"], "definition": "Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. [HPO:ibailleulforestier, PMID:31468724]", "canonical_name": "Loss of teeth"} {"concept_id": "C0232608", "aliases": [], "types": ["T184"], "definition": "Regurgitation of milk through the nose. [DDD:ncarter]", "canonical_name": "Nasal regurgitation"} {"concept_id": "C0232694", "aliases": ["Increased bowel sounds", "Borborygmi"], "types": ["T033"], "definition": "Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines. [HPO:probinson, PMID:22767621]", "canonical_name": "Hyperactive bowel sounds"} {"concept_id": "C0232695", "aliases": ["Decreased bowel sounds"], "types": ["T033"], "definition": "An decreased amount of bowel sounds. [HPO:probinson]", "canonical_name": "Hypoactive bowel sounds"} {"concept_id": "C0232726", "aliases": [], "types": ["T184"], "definition": "Painful spasm of the anal sphincter along with an urgent desire to defecate without the significant production of feces; associated with irritable bowel syndrome.", "canonical_name": "Tenesmus"} {"concept_id": "C0232744", "aliases": [], "types": ["T033"], "definition": "Reduced ability of the liver to perform its functions. [HPO:probinson]", "canonical_name": "Decreased liver function"} {"concept_id": "C0232766", "aliases": [], "types": ["T184"], "definition": "A tremor of the wrist that is observed when the wrist is extended.", "canonical_name": "Asterixis"} {"concept_id": "C0232769", "aliases": [], "types": ["T033"], "canonical_name": "Gallbladder dysfunction"} {"concept_id": "C0232831", "aliases": ["Hyposthenuria"], "types": ["T033"], "definition": "An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. [HPO:probinson]", "canonical_name": "Reduced urinary osmolality"} {"concept_id": "C0232849", "aliases": [], "types": ["T184"], "definition": "Painful sensation in the bladder region.", "canonical_name": "Bladder pain"} {"concept_id": "C0232901", "aliases": [], "types": ["T169"], "canonical_name": "Migratory"} {"concept_id": "C0232939", "aliases": [], "types": ["T047"], "definition": "Abnormally late or absent menarche in a female with normal secondary sexual characteristics.", "canonical_name": "Primary amenorrhea"} {"concept_id": "C0232940", "aliases": ["Secondary amenorrhea"], "types": ["T047"], "definition": "The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.", "canonical_name": "Previous menstrual periods stop"} {"concept_id": "C0232943", "aliases": [], "types": ["T184"], "definition": "Prolonged/excessive menses and bleeding at irregular intervals. [PMID:22594864]", "canonical_name": "Menometrorrhagia"} {"concept_id": "C0233283", "aliases": [], "types": ["T033"], "definition": "A kind of breech presentation in which the hips are flexed and the knees are flexed. [HPO:probinson]", "canonical_name": "Complete breech presentation"} {"concept_id": "C0233286", "aliases": [], "types": ["T033"], "definition": "A kind of breech presentation in which the hips are flexed and the knees are extended. [HPO:curators]", "canonical_name": "Frank breech presentation"} {"concept_id": "C0233469", "aliases": [], "types": ["T048"], "definition": "Restricted range of emotional expressiveness.", "canonical_name": "Emotional blunting"} {"concept_id": "C0233477", "aliases": [], "types": ["T048"], "definition": "A state of feeling very unhappy, uneasy, or dissatisfied. []", "canonical_name": "Dysphoria"} {"concept_id": "C0233514", "aliases": ["Behavioral disturbances", "Behavioral abnormality", "Behavioural problems", "Behavioral problems", "Psychiatric disorders", "Behavioral/psychiatric abnormalities", "Behavioural/Psychiatric abnormality", "Behavioural abnormality", "Psychiatric disturbances"], "types": ["T048"], "definition": "Troublesome or disruptive behavioral displays.", "canonical_name": "Behavioural disturbances"} {"concept_id": "C0233522", "aliases": ["Inappropriate behavior"], "types": ["T048"], "canonical_name": "Inappropriate behaviour"} {"concept_id": "C0233565", "aliases": ["Bradykinesia", "Slowness of movements"], "types": ["T184"], "definition": "Slow movement.", "canonical_name": "Slow movements"} {"concept_id": "C0233593", "aliases": ["Eye poking", "Ocular auto-stimulation"], "types": ["T048"], "definition": "Repetitive pressing, poking, and/or rubbing in the eyes. [HPO:probinson, PMID:8881355]", "canonical_name": "Oculodigital phenomenon"} {"concept_id": "C0233610", "aliases": [], "types": ["T048"], "definition": "Opposing or not responding to instructions or external stimuli. [PMID:28754582, PMID:30262571]", "canonical_name": "Negativism"} {"concept_id": "C0233623", "aliases": [], "types": ["T048"], "definition": "Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails. [PMID:26985115]", "canonical_name": "Onychotillomania"} {"concept_id": "C0233633", "aliases": ["Slowness of thought", "Mental slowness", "Slowed thoughts"], "types": ["T033"], "canonical_name": "Slowed thinking"} {"concept_id": "C0233651", "aliases": ["Perseverative behavior", "Perseverative behaviour"], "types": ["T048"], "definition": "Repeats of words that have been previously mentioned on the same trial.", "canonical_name": "Perseveration"} {"concept_id": "C0233715", "aliases": [], "types": ["T033"], "canonical_name": "Speech difficulties"} {"concept_id": "C0233762", "aliases": ["Hearing sounds", "Hallucinations of sound"], "types": ["T184"], "definition": "Perception of sound in the absence of a corresponding stimulus.", "canonical_name": "Auditory hallucinations"} {"concept_id": "C0233763", "aliases": [], "types": ["T184"], "definition": "Optical perception of an object, person or event in the absence of a corresponding stimulus.", "canonical_name": "Visual hallucinations"} {"concept_id": "C0233765", "aliases": [], "types": ["T184"], "definition": "Perception of a smell in the absence of a corresponding stimulus.", "canonical_name": "Olfactory hallucination"} {"concept_id": "C0233767", "aliases": ["Tactile hallucination"], "types": ["T184"], "definition": "Perception of pressure or touch in the absence of a corresponding stimulus.", "canonical_name": "Tactile hallucinations"} {"concept_id": "C0233773", "aliases": [], "types": ["T184"], "definition": "Fleeting perceptual experiences that occur during the transition from wakefulness to sleep. [PMID:27358492]", "canonical_name": "Hypnagogic hallucinations"} {"concept_id": "C0233794", "aliases": [], "types": ["T048"], "definition": "Deterioration in memory function.", "canonical_name": "Memory impairment"} {"concept_id": "C0233795", "aliases": ["Anterograde amnesia"], "types": ["T048"], "definition": "Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow CRANIOCEREBRAL TRAUMA; SEIZURES; ANOXIA; and other conditions which adversely affect neural structures associated with memory formation (e.g., the HIPPOCAMPUS; FORNIX (BRAIN); MAMMILLARY BODIES; and ANTERIOR THALAMIC NUCLEI). (From Memory 1997 Jan-Mar;5(1-2):49-71)", "canonical_name": "Anterograde memory impairment"} {"concept_id": "C0233803", "aliases": ["Jamais vu"], "types": ["T033"], "definition": "A subjective feeling that an experience which has occurred before is being experienced for the first time. [HPO:probinson]", "canonical_name": "Jamais vu aura"} {"concept_id": "C0233824", "aliases": [], "types": ["T048"], "canonical_name": "Lack of insight"} {"concept_id": "C0233844", "aliases": [], "types": ["T184"], "definition": "Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. [HPO:probinson]", "canonical_name": "Clumsiness"} {"concept_id": "C0234022", "aliases": [], "types": ["T048"], "definition": "Inability to achieve orgasm.", "canonical_name": "Anorgasmia"} {"concept_id": "C0234047", "aliases": ["Delayed ejaculation"], "types": ["T046"], "definition": "Difficulty of a male in achieving orgasm. [HPO:probinson, PMID:24528812]", "canonical_name": "Retarded ejaculation"} {"concept_id": "C0234132", "aliases": ["Corticospinal signs", "Pyramidal signs", "Abnormal pyramidal sign"], "types": ["T184"], "definition": "Functional neurological abnormalities related to dysfunction of the pyramidal tract. [HPO:probinson]", "canonical_name": "Pyramidal tract signs"} {"concept_id": "C0234133", "aliases": ["Extrapyramidal dysfunction", "Extrapyramidal signs", "Extrapyramidal symptoms", "Extrapyramidal tract signs"], "types": ["T184"], "definition": "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). [HPO:probinson]", "canonical_name": "Abnormality of extrapyramidal motor function"} {"concept_id": "C0234144", "aliases": [], "types": ["T048"], "definition": "A neurological disorder characterized by impairment of handwriting ability that may be associated with other learning disabilities in children or traumatic damage to the parietal lobe in adults.", "canonical_name": "Dysgraphia"} {"concept_id": "C0234146", "aliases": ["Areflexia"], "types": ["T033"], "definition": "A finding indicating the complete absence of neurological reflexes.", "canonical_name": "Absent reflexes"} {"concept_id": "C0234155", "aliases": ["Abnormal postural reaction"], "types": ["T033"], "definition": "Anomaly of the physiological response to maintain the body's posture when movement and position is altered. [PMID:15246484]", "canonical_name": "Abnormal postural reflex"} {"concept_id": "C0234162", "aliases": ["Lack of coordination of movement"], "types": ["T033"], "definition": "Lack of coordination of movement necessary to execute a smooth action; often the person over reaches or under reaches. This condition is sometimes symptomatic of a cerebellar cognitive dysfunction.", "canonical_name": "Dysmetria"} {"concept_id": "C0234166", "aliases": [], "types": ["T184"], "definition": "A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA.", "canonical_name": "Hyperekplexia"} {"concept_id": "C0234174", "aliases": ["Persistent nutritive suckle swallow"], "types": ["T040"], "definition": "An involuntary, primal response in the neonate when a nipple is placed on an infant's lips.", "canonical_name": "Suck reflex"} {"concept_id": "C0234175", "aliases": ["Palmar grasp reflex"], "types": ["T040"], "definition": "An involuntary, primal response in the neonate to grasp the fingers when their palm is touched. This reflex is present until six months of age.", "canonical_name": "Grasp reflex"} {"concept_id": "C0234180", "aliases": [], "types": ["T033"], "definition": "A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve. [PMID:22970971, PMID:29443134]", "canonical_name": "Chvostek sign"} {"concept_id": "C0234182", "aliases": ["Gowers sign"], "types": ["T033"], "definition": "A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. [HPO:probinson]", "canonical_name": "Gower sign"} {"concept_id": "C0234221", "aliases": [], "types": ["T047"], "definition": "A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. []", "canonical_name": "Acroparesthesia"} {"concept_id": "C0234234", "aliases": [], "types": ["T080"], "definition": "Applied to pain that is tender, i.e., elicited by touching the affected body part. []", "canonical_name": "Tender"} {"concept_id": "C0234355", "aliases": [], "types": ["T184"], "definition": "A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. [HPO:probinson]", "canonical_name": "Asynergia"} {"concept_id": "C0234376", "aliases": [], "types": ["T184"], "definition": "A tremor that occurs with the voluntary movement of a muscle. Subcategories include postural, kinetic, and isometric tremors.", "canonical_name": "Action tremor"} {"concept_id": "C0234378", "aliases": ["Tremor, postural"], "types": ["T184"], "definition": "A type of tremors that is triggered by holding a limb in a fixed position. [HPO:probinson]", "canonical_name": "Postural tremor"} {"concept_id": "C0234379", "aliases": ["Tremor at rest", "Rest tremor"], "types": ["T184"], "definition": "A movement disorder characterized by involuntary and rhythmic shaking of a body part that is relaxed and not held against gravity, and where the tremor amplitude decreases with voluntary movements. Resting tremor is a common sign of Parkinson's disease.", "canonical_name": "Resting tremor"} {"concept_id": "C0234428", "aliases": ["Disturbances of consciousness", "Lowered consciousness"], "types": ["T033"], "canonical_name": "Reduced consciousness/confusion"} {"concept_id": "C0234502", "aliases": [], "types": ["T184"], "definition": "An inability to recognize or interpret objects by sight.", "canonical_name": "Visual agnosia"} {"concept_id": "C0234505", "aliases": ["Astereognosia", "Somatosensory agnosia"], "types": ["T048"], "definition": "Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. [HPO:probinson]", "canonical_name": "Astereognosis"} {"concept_id": "C0234509", "aliases": [], "types": ["T033"], "definition": "An inability or difficulty differentiating among the fingers of either hand as well as the hands of others. [HPO:curators]", "canonical_name": "Finger agnosia"} {"concept_id": "C0234512", "aliases": ["Facial agnosia", "Prosopagnosia"], "types": ["T048"], "definition": "The inability to recognize a familiar face or to learn to recognize new faces. This visual agnosia is most often associated with lesions involving the junctional regions between the temporal and occipital lobes. The majority of cases are associated with bilateral lesions, however unilateral damage to the right occipito-temporal cortex has also been associated with this condition. (From Cortex 1995 Jun;31(2):317-29).", "canonical_name": "Face blindness"} {"concept_id": "C0234517", "aliases": ["Loss of articulate speech"], "types": ["T047"], "definition": "A defect in the motor ability that enables speech. [HPO:curators]", "canonical_name": "Anarthria"} {"concept_id": "C0234518", "aliases": [], "types": ["T033"], "definition": "Abnormal coordination of muscles involved in speech. [DDD:fmunitoni]", "canonical_name": "Slurred speech"} {"concept_id": "C0234533", "aliases": ["Generalised onset seizure", "Generalised-onset seizure", "Generalized-onset seizure", "Generalised seizures", "Primary generalized seizure", "Generalized onset seizure", "Generalized seizures", "Generalized-onset seizures"], "types": ["T047"], "definition": "clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells; clinical manifestations include abnormal motor, sensory and psychic phenomena; recurrent seizures are usually referred to as EPILEPSY or \"seizure disorder.\"", "canonical_name": "Primary generalised seizure"} {"concept_id": "C0234535", "aliases": [], "types": ["T047"], "definition": "A convulsion marked by alternating contracting and relaxing of the muscles.", "canonical_name": "Clonic seizure"} {"concept_id": "C0234542", "aliases": [], "types": ["T184"], "definition": "An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure. []", "canonical_name": "Epileptic aura"} {"concept_id": "C0234616", "aliases": [], "types": ["T184"], "definition": "This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases. [PMID:19881070]", "canonical_name": "Empty delta sign"} {"concept_id": "C0234629", "aliases": ["Abnormality of colour vision", "Abnormality of color vision", "Abnormal color vision", "Color vision defect", "Colour vision defect", "Disturbed color vision"], "types": ["T033"], "definition": "An anomaly in the ability to discriminate between or recognize colors. [HPO:probinson]", "canonical_name": "Abnormal colour vision"} {"concept_id": "C0234632", "aliases": ["Decreased central vision", "Decreased clarity of vision", "Decreased visual acuity", "Reduced visual acuity"], "types": ["T033"], "definition": "Diminished clarity of vision.", "canonical_name": "Poor visual acuity"} {"concept_id": "C0234641", "aliases": [], "types": ["T033"], "definition": "An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea. [PMID:30480980]", "canonical_name": "Abnormal corneal reflex"} {"concept_id": "C0234649", "aliases": ["Abnormality of saccadic eye movements"], "types": ["T190"], "definition": "An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. [HPO:probinson]", "canonical_name": "Abnormal saccadic eye movements"} {"concept_id": "C0234650", "aliases": [], "types": ["T033"], "definition": "Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. [PMID:17314191, UManchester:psergouniotis]", "canonical_name": "Ocular flutter"} {"concept_id": "C0234664", "aliases": ["Lid lag on downgaze", "Lid lag"], "types": ["T184"], "definition": "Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign. [ORCID:0000-0003-0986-4123]", "canonical_name": "Eyelid lag"} {"concept_id": "C0234665", "aliases": [], "types": ["T033"], "definition": "Abnormal superior displacement of resting upper lid margin or abnormal inferior displacement of resting lower lid margin.", "canonical_name": "Eyelid retraction"} {"concept_id": "C0234708", "aliases": ["Raised intraocular pressure", "Elevated intraocular pressure", "Ocular hypertension", "Elevated IOP", "Increased intraocular pressure", "High eye pressure", "Raised IOP"], "types": ["T033"], "definition": "Increased pressure of the intraocular fluid in the eye.", "canonical_name": "Increased IOP"} {"concept_id": "C0234853", "aliases": [], "types": ["T033"], "canonical_name": "Facial grimacing"} {"concept_id": "C0234860", "aliases": [], "types": ["T033"], "canonical_name": "Weak cry"} {"concept_id": "C0234861", "aliases": ["cri de chat-associated cry", "cat-like cry"], "types": ["T033"], "definition": "The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten. [HPO:probinson]", "canonical_name": "Cat cry"} {"concept_id": "C0234866", "aliases": ["Seal-like barking cough"], "types": ["T033"], "definition": "A cough with a characteristic sound that has been compared to a seal's bark. [PMID:16936230, PMID:28613724]", "canonical_name": "Barking cough"} {"concept_id": "C0234918", "aliases": [], "types": ["T033"], "definition": "An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days. [HPO:probinson]", "canonical_name": "Morbilliform rash"} {"concept_id": "C0234920", "aliases": ["Papulovesicular eruption"], "types": ["T033"], "definition": "An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point. [PMID:32579185]", "canonical_name": "Papulo-vesicular eruption"} {"concept_id": "C0234958", "aliases": [], "types": ["T047"], "canonical_name": "Muscle degeneration"} {"concept_id": "C0234966", "aliases": [], "types": ["T184"], "definition": "A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength. [HPO:mtaboada, PMID:27821973]", "canonical_name": "Astasia"} {"concept_id": "C0234967", "aliases": [], "types": ["T033"], "canonical_name": "Choreoathetoid movements"} {"concept_id": "C0234974", "aliases": ["Focal seizure without impairment of awareness", "Focal aware seizures", "Partial seizure without impairment of awareness", "Focal seizures without impairment of consciousness or awareness", "Partial seizure with retained awareness", "Focal aware seizure", "Simple partial seizure", "Focal seizure without impairment of consciousness or awareness", "Focal seizure with retained awareness"], "types": ["T047"], "definition": "A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. [HPO:probinson, ORCID:0000-0002-1735-8178, PMID:28276060, PMID:28276062, PMID:28276064]", "canonical_name": "Simple partial seizures"} {"concept_id": "C0234979", "aliases": ["Dysdiadochokinesia", "Dysdiadochokinesis"], "types": ["T184"], "definition": "A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. [HPO:probinson, HPO:zaferyueksel, UKB:tklockgether]", "canonical_name": "Difficulty performing quick and alternating movements"} {"concept_id": "C0234985", "aliases": ["Cognitive decline, progressive", "Intellectual deterioration", "Progressive cognitive decline", "Mental deterioration"], "types": ["T048"], "definition": "Loss of previously present mental abilities, generally in adults. [HPO:probinson]", "canonical_name": "Cognitive decline"} {"concept_id": "C0235025", "aliases": [], "types": ["T047"], "definition": "Inflammation or degeneration of the peripheral motor nerves.", "canonical_name": "Peripheral motor neuropathy"} {"concept_id": "C0235063", "aliases": [], "types": ["T046"], "definition": "A decrease in ventilation secondary to impaired signals from the central nervous system.", "canonical_name": "Respiratory depression"} {"concept_id": "C0235068", "aliases": [], "types": ["T184"], "definition": "A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights. [HPO:probinson]", "canonical_name": "Scintillating scotoma"} {"concept_id": "C0235081", "aliases": ["Tremor of limbs", "Involuntary shaking of limb"], "types": ["T184"], "canonical_name": "Limb tremor"} {"concept_id": "C0235095", "aliases": ["Reduced peripheral vision", "Visual field constriction", "Limited peripheral vision", "Constricted visual field", "Constricted visual fields", "Concentric narrowing of visual field"], "types": ["T033"], "definition": "An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. [ORCID:0000-0003-0986-4123]", "canonical_name": "Constriction of peripheral visual field"} {"concept_id": "C0235146", "aliases": [], "types": ["T041"], "definition": "An exaggerated feeling of physical and emotional well-being not consonant with apparent stimuli or events; usually of psychologic origin, but also seen in organic brain disease and toxic states.", "canonical_name": "Euphoria"} {"concept_id": "C0235153", "aliases": [], "types": ["T184"], "canonical_name": "Sensory hallucination"} {"concept_id": "C0235198", "aliases": ["Diminished ability to concentrate", "Concentration problems", "Poor concentration"], "types": ["T033"], "definition": "Being unable to focus one's attention or mental effort on a particular object or activity. []", "canonical_name": "Lack of concentration"} {"concept_id": "C0235259", "aliases": ["Subcapsular cataract", "Subcapsular cataracts", "Subcapsular opacities"], "types": ["T020"], "definition": "A cataract that affects the region of the lens directly beneath the capsule of the lens. [HPO:probinson]", "canonical_name": "Subcapsular lenticular cataracts"} {"concept_id": "C0235267", "aliases": ["Red eyes"], "types": ["T184"], "definition": "Lay term applied to any condition with dilation of conjunctival or ciliary blood vessels; innumerable causes, especially irritation and infection.", "canonical_name": "Red eye"} {"concept_id": "C0235309", "aliases": [], "types": ["T184"], "canonical_name": "Upset stomach"} {"concept_id": "C0235357", "aliases": ["Tooth hypoplasia", "Hypoplastic teeth", "Underdevelopment of teeth"], "types": ["T019"], "canonical_name": "Hypoplasia of teeth", "definition": "Developmental hypoplasia of teeth. [HPO:ibailleulforestier]"} {"concept_id": "C0235401", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal glucose tolerance"} {"concept_id": "C0235430", "aliases": ["Elevated circulating ketone body concentration", "Hyperketonemia", "Ketonemia"], "types": ["T047"], "definition": "An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. [PMID:27036365]", "canonical_name": "Increased level of ketone bodies in blood"} {"concept_id": "C0235437", "aliases": ["Dependant edema"], "types": ["T046"], "canonical_name": "Dependant oedema"} {"concept_id": "C0235439", "aliases": [], "types": ["T046"], "canonical_name": "Ankle swelling"} {"concept_id": "C0235472", "aliases": [], "types": ["T033"], "definition": "An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart. []", "canonical_name": "Abnormal pulse"} {"concept_id": "C0235475", "aliases": ["Prolonged QRS complex on EKG"], "types": ["T033"], "definition": "Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. [HPO:probinson]", "canonical_name": "Prolonged QRS complex"} {"concept_id": "C0235480", "aliases": ["Paroxysmal AF", "Intermittent atrial fibrillation", "Atrial fibrillation, paroxysmal"], "types": ["T047"], "definition": "A disorder characterized by an electrocardiographic finding of episodic atrial fibrillation with abrupt onset and termination.", "canonical_name": "Paroxysmal atrial fibrillation"} {"concept_id": "C0235527", "aliases": [], "types": ["T047"], "canonical_name": "Right-sided heart failure"} {"concept_id": "C0235532", "aliases": [], "types": ["T033"], "definition": "Finding characterised by slowing of blood flow to a peripheral body region in association with an increase in oxygen extraction from normally saturated arterial blood.", "canonical_name": "Peripheral cyanosis"} {"concept_id": "C0235546", "aliases": ["Shallow breathing"], "types": ["T033"], "definition": "Hypopnea is referring to breathing that is abnormally shallow. []", "canonical_name": "Hypopnea"} {"concept_id": "C0235592", "aliases": [], "types": ["T047"], "definition": "Enlargement of the cervical lymph nodes usually due to infections or involvement by malignant neoplasms.", "canonical_name": "Cervical lymphadenopathy"} {"concept_id": "C0235659", "aliases": ["Fetal hypokinesia", "Reduced fetal movement", "Decreased foetal activity", "Reduced fetal movements", "Decreased fetal activity", "Decreased foetal movement", "Reduced foetal movement", "Reduced foetal movements", "Decreased foetal movements", "Less than 10 foetal movements in 12 hours", "Foetal hypokinesia", "Decreased movement in utero", "Decreased fetal movement"], "types": ["T033"], "definition": "An abnormal reduction in quantity or strength of fetal movements. [HPO:curators]", "canonical_name": "Decreased fetal movements"} {"concept_id": "C0235660", "aliases": ["Galactorrhoea", "Spontaneous milk flow from breast"], "types": ["T047"], "definition": "Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. [HPO:sdoelken]", "canonical_name": "Galactorrhea"} {"concept_id": "C0235710", "aliases": ["Chest discomfort"], "types": ["T184"], "canonical_name": "Chest distress"} {"concept_id": "C0235752", "aliases": ["port-wine stain", "Nevus simplex"], "types": ["T019"], "definition": "A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema. In the past, port wine stains have frequently been termed capillary hemangiomas, which they are not; unfortunately this confusing practice persists: HEMANGIOMA, CAPILLARY is neoplastic, a port-wine stain is non-neoplastic. Port-wine stains vary in color from fairly pale pink to deep red or purple and in size from a few millimeters to many centimeters in diameter. The face is the most frequently affected site and they are most often unilateral. (From Rook et al., Textbook of Dermatology, 5th ed, p483)", "canonical_name": "Nevus flammeus"} {"concept_id": "C0235760", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal serum iron concentration"} {"concept_id": "C0235761", "aliases": ["Nasal-septum perforation", "Nasal septum perforation"], "types": ["T190"], "definition": "An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process.", "canonical_name": "Perforation of the nasal septum"} {"concept_id": "C0235812", "aliases": ["Hyalitis", "Vitreitis"], "types": ["T047"], "definition": "Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina.", "canonical_name": "Vitritis"} {"concept_id": "C0235833", "aliases": ["Congenital diaphragmatic hernia"], "types": ["T019"], "definition": "Diaphragmatic hernia that is present at birth.", "canonical_name": "Diaphragmatic hernia"} {"concept_id": "C0235857", "aliases": ["Decreased lacrimation"], "types": ["T033"], "definition": "Abnormally decreased lacrimation, that is, reduced ability to produce tears. [HPO:probinson]", "canonical_name": "Decreased tear secretion"} {"concept_id": "C0235886", "aliases": [], "types": ["T046"], "canonical_name": "Leg edema"} {"concept_id": "C0235896", "aliases": ["Pulmonic infiltration", "Pulmonary infiltrates"], "types": ["T033"], "definition": "A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.", "canonical_name": "Lung infiltrates"} {"concept_id": "C0235927", "aliases": [], "types": ["T047"], "canonical_name": "Vestibular ataxia"} {"concept_id": "C0235939", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal cry", "definition": "Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation. []"} {"concept_id": "C0235942", "aliases": ["Abnormality of the skull bones", "Abnormality of the skull"], "types": ["T190"], "canonical_name": "Abnormal skull morphology", "definition": "An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. [HPO:probinson]"} {"concept_id": "C0235946", "aliases": [], "types": ["T047"], "definition": "Atrophy of the cerebrum caused by focal or generalized neuronal loss.", "canonical_name": "Cerebral atrophy"} {"concept_id": "C0235971", "aliases": ["Increased levels of alpha fetoprotein", "Increased serum alpha-fetoprotein", "Serum alpha-fetoprotein increased"], "types": ["T033"], "canonical_name": "Elevated alpha-fetoprotein", "definition": "A finding indicating elevated concentrations of alpha-fetoprotein in the blood."} {"concept_id": "C0235983", "aliases": ["Normochromic anemia"], "types": ["T047"], "canonical_name": "Normochromic anaemia"} {"concept_id": "C0235986", "aliases": ["Elevated circulating somatotropin concentration", "Elevated circulating growth hormone concentration", "Growth hormone excess"], "types": ["T033"], "definition": "Overproduction of growth hormone, a protein-based peptide that stimulates growth, cell reproduction, and cell regeneration.", "canonical_name": "Somatotropin excess"} {"concept_id": "C0235988", "aliases": ["Low serum iron"], "types": ["T033"], "canonical_name": "Decreased serum iron"} {"concept_id": "C0235989", "aliases": [], "types": ["T047"], "definition": "The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. [PMID:22449945]", "canonical_name": "Renal interstitial fibrosis"} {"concept_id": "C0235991", "aliases": ["Birth weight less than 10th percentile"], "types": ["T033"], "definition": "A newborn infant who has weight and/or length at birth more than two standard deviations below the mean for the reference population of the same sex and gestational age.", "canonical_name": "Small for gestational age"} {"concept_id": "C0235996", "aliases": ["Raised liver enzymes", "High liver enzymes", "Increased liver enzymes"], "types": ["T033"], "canonical_name": "Elevated liver enzymes"} {"concept_id": "C0236000", "aliases": [], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw. [HPO:probinson]", "canonical_name": "Jaw pain"} {"concept_id": "C0236024", "aliases": ["Pharyngeal oedema", "Pharyngeal edema", "Throat swelling"], "types": ["T046"], "definition": "Abnormal accumulation of fluid leading to swelling of the pharynx. [HPO:probinson]", "canonical_name": "Swollen throat"} {"concept_id": "C0236048", "aliases": [], "types": ["T047"], "definition": "A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).", "canonical_name": "Multiple gastric polyps"} {"concept_id": "C0236078", "aliases": [], "types": ["T184"], "definition": "Painful sensation in the scrotal area.", "canonical_name": "Scrotal pain"} {"concept_id": "C0236124", "aliases": ["GI obstruction", "Gastrointestinal obstruction"], "types": ["T047"], "canonical_name": "Obstruction in digestive tract"} {"concept_id": "C0236159", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal total iron binding capacity", "definition": "Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. [PMID:3542299]"} {"concept_id": "C0236175", "aliases": ["High immunoglobulin E", "Elevated serum IgE", "Elevated immunoglobulin E"], "types": ["T033"], "canonical_name": "Increased circulating IgE level", "definition": "An abnormally increased overall level of immunoglobulin E in blood. [HPO:probinson]"} {"concept_id": "C0236804", "aliases": ["Dextroamphetamine addiction", "Amphetamine dependence", "Amphetamine addiction"], "types": ["T048"], "definition": "Addiction to amphetamine or dextroamphetamine. [ORCID:0000-0002-4095-8489, PMID:28790493]", "canonical_name": "Dextroamphetamine dependence"} {"concept_id": "C0237020", "aliases": ["Ovarian dermoid cyst"], "types": ["T191"], "definition": "A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral.", "canonical_name": "Mature cystic ovarian teratoma"} {"concept_id": "C0237304", "aliases": [], "types": ["T033"], "canonical_name": "Noisy breathing"} {"concept_id": "C0237326", "aliases": [], "types": ["T184"], "definition": "Difficult defecation.", "canonical_name": "Dyschezia"} {"concept_id": "C0237653", "aliases": [], "types": ["T046"], "canonical_name": "Immunologic hypersensitivity", "definition": "Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. [https://www.st-andrews.ac.uk/~gdk/bl4217web/Gp3%20Ref%20list/hypersensitivity%20printed.pdf]"} {"concept_id": "C0237676", "aliases": [], "types": ["T041"], "canonical_name": "Emotional insecurity", "definition": "A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening. [PMID:7809306]"} {"concept_id": "C0237849", "aliases": ["Desquamation", "peeling skin", "Scaling skin", "flaking skin"], "types": ["T033"], "definition": "Shedding of the outer layer of skin or mucosal tissue.", "canonical_name": "Scaly skin"} {"concept_id": "C0237938", "aliases": [], "types": ["T047"], "definition": "A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae. [PMID:16184417]", "canonical_name": "Gastrointestinal ulcer"} {"concept_id": "C0238026", "aliases": [], "types": ["T019"], "canonical_name": "Bladder duplication", "definition": "A congenital anomaly characterized by the presence of two bladders. [PMID:25657554]"} {"concept_id": "C0238036", "aliases": [], "types": ["T047"], "definition": "Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen. [LMU:crapp, PMID:26744680]", "canonical_name": "Bronchocentric granulomatosis"} {"concept_id": "C0238044", "aliases": ["Symmetric, concentric, hypertrophic cardiomyopathy"], "types": ["T047"], "canonical_name": "Concentric hypertrophic cardiomyopathy", "definition": "Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. [HPO:probinson]"} {"concept_id": "C0238045", "aliases": ["Caroticocavernous fistula"], "types": ["T190"], "definition": "An acquired or spontaneous abnormality in which there is communication between CAVERNOUS SINUS, a venous structure, and the CAROTID ARTERIES. It is often associated with HEAD TRAUMA, specifically basilar skull fractures (SKULL FRACTURE, BASILAR). Clinical signs often include VISION DISORDERS and INTRACRANIAL HYPERTENSION.", "canonical_name": "Carotid cavernous fistula"} {"concept_id": "C0238051", "aliases": [], "types": ["T047"], "definition": "Inflammation of the blood vessels within the brain. [HPO:probinson]", "canonical_name": "Cerebral vasculitis"} {"concept_id": "C0238093", "aliases": [], "types": ["T190"], "definition": "Narrowing of the lumen of the duodenum.", "canonical_name": "Duodenal stenosis"} {"concept_id": "C0238096", "aliases": [], "types": ["T047"], "definition": "Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE.", "canonical_name": "Paradoxical embolism"} {"concept_id": "C0238106", "aliases": [], "types": ["T047"], "definition": "A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated.", "canonical_name": "Clostridium difficile colitis"} {"concept_id": "C0238115", "aliases": ["Spontaneous esophageal rupture", "Spontaneous esophageal perforation"], "types": ["T047"], "definition": "The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. [HPO:probinson]", "canonical_name": "Boerhaave syndrome"} {"concept_id": "C0238122", "aliases": [], "types": ["T191"], "definition": "A carcinoma arising from the fallopian tube. Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas.", "canonical_name": "Fallopian tube carcinoma"} {"concept_id": "C0238127", "aliases": [], "types": ["T190"], "canonical_name": "Coronary arteriovenous fistula", "definition": "An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation. [MP:0011656]"} {"concept_id": "C0238152", "aliases": [], "types": ["T191"], "definition": "A malignant mesenchymal neoplasm that arises from the heart. The majority of cases are angiosarcomas.", "canonical_name": "Cardiac sarcoma"} {"concept_id": "C0238154", "aliases": ["Epidural hematoma", "Epidural haematoma", "Extradural hematoma", "Extradural haematoma", "Epidural haemorrhage"], "types": ["T046"], "definition": "Intracranial hemorrhage into the epidural space.", "canonical_name": "Epidural hemorrhage"} {"concept_id": "C0238198", "aliases": ["Gastrointestinal stromal tumour", "Gastrointestinal stroma tumour", "GI stroma tumour", "GI stroma tumor", "Gastrointestinal stromal tumor", "GIST", "Gastrointestinal stromal tumours", "Gastrointestinal stromal tumors"], "types": ["T191"], "definition": "All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA).", "canonical_name": "Gastrointestinal stroma tumor"} {"concept_id": "C0238207", "aliases": ["Displaced kidney", "Ectopic kidney", "Abnormal kidney location", "Renal ectopia"], "types": ["T019"], "definition": "A developmental defect in which a kidney is located in an abnormal anatomic position. [HPO:probinson]", "canonical_name": "Ectopic kidneys"} {"concept_id": "C0238210", "aliases": ["Malrotation of the kidney", "Abnormal rotation of the kidneys"], "types": ["T019"], "definition": "An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. [HPO:probinson]", "canonical_name": "Renal malrotation"} {"concept_id": "C0238212", "aliases": [], "types": ["T020"], "definition": "An abscess that is located outside the renal capsule, but which is within Gerota's space.", "canonical_name": "Perinephric abscess"} {"concept_id": "C0238218", "aliases": [], "types": ["T037"], "definition": "A tear in the cartilaginous pad (meniscus) of the knee. [PMID:21126396, PMID:26488288]", "canonical_name": "Torn meniscus"} {"concept_id": "C0238229", "aliases": ["bone larynx"], "types": ["T037"], "definition": "A partial or complete breakage of the larynx. []", "canonical_name": "Fractured larynx"} {"concept_id": "C0238246", "aliases": ["Hepatic hemangioma", "Liver hemangioma"], "types": ["T191"], "definition": "A hemangioma arising from the liver.", "canonical_name": "Hemangioma of the liver"} {"concept_id": "C0238300", "aliases": ["Narrowing of the tear duct", "Nasolacrimal duct stenosis"], "types": ["T033"], "definition": "Narrowing of a tear duct (lacrimal duct). [HPO:probinson]", "canonical_name": "Lacrimal duct stenosis"} {"concept_id": "C0238304", "aliases": [], "types": ["T047"], "definition": "Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. [HPO:probinson]", "canonical_name": "Chronic tubulointerstitial nephritis"} {"concept_id": "C0238334", "aliases": ["Pancreas abscess"], "types": ["T047"], "definition": "A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas. []", "canonical_name": "Pancreatic abscess"} {"concept_id": "C0238357", "aliases": ["Hyperkalemic periodic paralysis"], "types": ["T047"], "definition": "An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)", "canonical_name": "Periodic hyperkalemic paralysis"} {"concept_id": "C0238378", "aliases": ["Filling of the alveoli with alveolar macrophages"], "types": ["T047"], "definition": "A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis.", "canonical_name": "Desquamative interstitial pneumonitis"} {"concept_id": "C0238394", "aliases": [], "types": ["T019"], "definition": "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. [HPO:curators]", "canonical_name": "Female pseudohermaphroditism"} {"concept_id": "C0238395", "aliases": [], "types": ["T019"], "definition": "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. [HPO:curators]", "canonical_name": "Male pseudohermaphroditism"} {"concept_id": "C0238397", "aliases": ["Narrowing of lung artery"], "types": ["T190"], "definition": "A congenital or acquired cardiovascular abnormality characterized by the narrowing of the lumen of the main pulmonary artery or its branches. Signs and symptoms include dyspnea, tachypnea, tachycardia, fatigue, and edema.", "canonical_name": "Pulmonary artery stenosis"} {"concept_id": "C0238399", "aliases": ["Pulmonary myomatosis"], "types": ["T191"], "canonical_name": "Pulmonary lymphangiomyomatosis", "definition": "Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls. [HPO:probinson]"} {"concept_id": "C0238434", "aliases": ["A severe pyogenic infection of the epidural space"], "types": ["T047"], "definition": "Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect ofthe abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. Left untreated, the infection can lead to sensory loss,muscle weakness, visceral dysfunction, sepsis, and even death. Early diagnosis is essential to limit mor-bidity and neurologic injury. The classic triad of fever, axial pain, and neurological deficit occurs in as few as 13 percent of patients, highlighting the diagnosticchallenge associated with SEA. [PMID:24007734, PMID:26540492]", "canonical_name": "Spinal epidural abscess"} {"concept_id": "C0238436", "aliases": ["Fractured sternum"], "types": ["T037"], "definition": "A partial or complete breakage of the sternum. []", "canonical_name": "bone sternum"} {"concept_id": "C0238441", "aliases": [], "types": ["T190"], "canonical_name": "Subglottic stenosis"} {"concept_id": "C0238451", "aliases": [], "types": ["T191"], "definition": "A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites.", "canonical_name": "Testicular teratoma"} {"concept_id": "C0238457", "aliases": [], "types": ["T046"], "definition": "The formation of a thrombus in the renal vein.", "canonical_name": "Renal vein thrombosis"} {"concept_id": "C0238461", "aliases": [], "types": ["T191"], "definition": "An aggressive THYROID GLAND malignancy which generally occurs in IODINE-deficient areas in people with previous thyroid pathology such as GOITER. It is associated with CELL DEDIFFERENTIATION of THYROID CARCINOMA (e.g., FOLLICULAR THYROID CARCINOMA; PAPILLARY THYROID CANCER). Typical initial presentation is a rapidly growing neck mass which upon metastasis is associated with DYSPHAGIA; NECK PAIN; bone pain; DYSPNEA; and NEUROLOGIC DEFICITS.", "canonical_name": "Anaplastic thyroid carcinoma"} {"concept_id": "C0238462", "aliases": ["Medullary thyroid carcinoma"], "types": ["T191"], "definition": "A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.", "canonical_name": "Medullary thyroid cancer"} {"concept_id": "C0238463", "aliases": ["Papillary carcinoma of thyroid", "Papillary thyroid carcinoma"], "types": ["T191"], "definition": "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance.", "canonical_name": "Thyroid papillary carcinoma"} {"concept_id": "C0238467", "aliases": ["Tongue lipoma"], "types": ["T191"], "canonical_name": "Lipoma of the tongue", "definition": "A benign adipose tissue neoplasm of the tongue."} {"concept_id": "C0238502", "aliases": [], "types": ["T047"], "definition": "The prolapse of the female urethra into the vagina. [HPO:sdoelken]", "canonical_name": "Urethrocele"} {"concept_id": "C0238506", "aliases": ["Posterior urethral valves", "Congenital posterior urethral valve"], "types": ["T019"], "definition": "A developmental abnormality characterized by the presence of an obstructing membrane in the posterior urethra of the male newborn. It results in bladder obstruction.", "canonical_name": "Posterior urethral valve"} {"concept_id": "C0238517", "aliases": ["Clear cell adenocarcinoma of the vagina"], "types": ["T191"], "canonical_name": "Vaginal clear cell adenocarcinoma", "definition": "A morphologic variant of adenocarcinoma that arises from the vagina. It is characterized by the presence of malignant glandular epithelium and clear cells containing glycogen."} {"concept_id": "C0238532", "aliases": [], "types": ["T033"], "definition": "An indication that the anterior abdominal wall is sunken or has a concave appearance on visual inspection.", "canonical_name": "Scaphoid abdomen"} {"concept_id": "C0238547", "aliases": [], "types": ["T033"], "definition": "A voluntary contraction of the abdominal wall musculature to avoid pain. []", "canonical_name": "Abdominal guarding"} {"concept_id": "C0238577", "aliases": ["Abdominal wall defect", "Congenital anterior abdominal wall defect"], "types": ["T019"], "canonical_name": "Abdominal wall defect", "definition": "An incomplete closure of the abdominal wall. [HPO:probinson]"} {"concept_id": "C0238591", "aliases": ["Aphalangy"], "types": ["T019"], "definition": "The absence of all phalanges of all the digits of a limb and the associated soft tissues. [PMID:19125433]", "canonical_name": "Adactyly"} {"concept_id": "C0238621", "aliases": ["Hyperaminoaciduria"], "types": ["T047"], "definition": "An increased concentration of an amino acid in the urine. [HPO:SKOEHLER]", "canonical_name": "Aminoaciduria"} {"concept_id": "C0238637", "aliases": ["Rectal pain"], "types": ["T184"], "definition": "Painful sensation in the anal region.", "canonical_name": "Anal pain"} {"concept_id": "C0238651", "aliases": ["Abnormal rhythmic movements of ankle"], "types": ["T033"], "definition": "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. [HPO:probinson]", "canonical_name": "Ankle clonus"} {"concept_id": "C0238656", "aliases": [], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle. []", "canonical_name": "Ankle pain"} {"concept_id": "C0238669", "aliases": [], "types": ["T190"], "canonical_name": "Aortic root dilatation"} {"concept_id": "C0238705", "aliases": ["Left atrial enlargement"], "types": ["T033"], "definition": "Increase in size of the left atrium. []", "canonical_name": "Enlarged heart left atrium"} {"concept_id": "C0238765", "aliases": ["Hyporeflexia of biceps"], "types": ["T033"], "canonical_name": "Biceps hyporeflexia", "definition": "Reduced intensity of the biceps tendon reflex. []"} {"concept_id": "C0238767", "aliases": [], "types": ["T082"], "definition": "Affecting both sides of the body or a matched pair of organs.", "canonical_name": "Bilateral"} {"concept_id": "C0238801", "aliases": [], "types": ["T034"], "definition": "Abnormal increased number of megaloblasts in the bone marrow. [HPO:probinson]", "canonical_name": "Megaloblastic bone marrow"} {"concept_id": "C0239043", "aliases": ["Impaired mastication", "Difficulty chewing", "Chewing difficulty"], "types": ["T033"], "definition": "Pain or discomfort with mastication, a symptom of underlying disease. Causes can include problems with the teeth, jaws or temporomandibular joint, mumps, cancer, or a neuromuscular disorder.", "canonical_name": "Chewing difficulties"} {"concept_id": "C0239054", "aliases": ["Choroid coloboma", "Coloboma of choroid"], "types": ["T019"], "canonical_name": "Choroidal coloboma"} {"concept_id": "C0239064", "aliases": ["Jaw claudication"], "types": ["T033"], "definition": "Pain in the jaw or ear induced by chewing or otherwise moving the jaw. [HPO:probinson, PMID:12972467]", "canonical_name": "Jaw pain while chewing"} {"concept_id": "C0239067", "aliases": ["Difficulty walking up stairs"], "types": ["T033"], "definition": "Reduced ability to climb stairs. [HPO:probinson]", "canonical_name": "Difficulty climbing stairs"} {"concept_id": "C0239105", "aliases": ["Conjunctival telangiectasia", "Small dilated blood vessels near membrane covering front of eye and eyelids", "Telangiectasia, conjunctival"], "types": ["T047"], "definition": "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. [HPO:probinson]", "canonical_name": "Conjunctival telangiectases"} {"concept_id": "C0239119", "aliases": [], "types": ["T019"], "definition": "A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. [DDD:ncarter]", "canonical_name": "Lenticonus"} {"concept_id": "C0239134", "aliases": ["Wet cough", "Cough with mucus production"], "types": ["T033"], "definition": "A cough accompanied by expectorated secretions.", "canonical_name": "Productive cough"} {"concept_id": "C0239137", "aliases": ["Coxa valga"], "types": ["T190"], "definition": "Hip deformity in which the angle between the femoral neck and its shaft is increased. It may be congenital, acquired, or developmental.", "canonical_name": "Valgus hip"} {"concept_id": "C0239138", "aliases": [], "types": ["T190"], "definition": "Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.", "canonical_name": "Coxa vara"} {"concept_id": "C0239154", "aliases": [], "types": ["T033"], "definition": "An abnormally shrill or screeching vocalization made by infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes.", "canonical_name": "High-pitched cry"} {"concept_id": "C0239174", "aliases": ["Delayed dental development", "Delayed tooth eruption", "Delayed eruption", "Late tooth eruption", "Delayed teeth eruption", "Eruption, delayed", "Delayed eruption of teeth", "Delayed dental eruption"], "types": ["T033"], "definition": "Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. [HPO:ibailleulforestier, PMID:19125428, PMID:31468724]", "canonical_name": "Late eruption of teeth"} {"concept_id": "C0239181", "aliases": ["Episodic diarrhoea", "Intermittent diarrhea", "Intermittent diarrhoea"], "types": ["T184"], "definition": "Repeated episodes of diarrhea separated by periods without diarrhea. []", "canonical_name": "Episodic diarrhea"} {"concept_id": "C0239233", "aliases": ["Feeling full quickly when eating", "Not able to finish a normal-sized meal"], "types": ["T184"], "definition": "A question about whether an individual has experienced early satiety.", "canonical_name": "Early satiety"} {"concept_id": "C0239234", "aliases": ["Low-set ears", "Melotia", "Low set ears", "Lowset ears"], "types": ["T019"], "definition": "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. [HPO:probinson, PMID:19152421]", "canonical_name": "Low-set pinnae"} {"concept_id": "C0239266", "aliases": [], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow. [UToronto:chum]", "canonical_name": "Elbow pain"} {"concept_id": "C0239272", "aliases": ["Stiff elbow"], "types": ["T184"], "definition": "A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity. []", "canonical_name": "Elbow stiffness"} {"concept_id": "C0239295", "aliases": ["Esophageal candidiasis"], "types": ["T047"], "definition": "Esophagitis resulting from Candida.", "canonical_name": "Candida esophagitis"} {"concept_id": "C0239296", "aliases": [], "types": ["T047"], "definition": "Blockage of the normal flow of the contents in the esophagus.", "canonical_name": "Esophageal obstruction"} {"concept_id": "C0239337", "aliases": ["Abnormal limbs", "Limb anomaly"], "types": ["T190"], "canonical_name": "Abnormality of limbs"} {"concept_id": "C0239340", "aliases": ["Pedal edema", "Fluid accumulation in lower limbs", "Oedema of the lower limbs", "Leg oedema", "Peripheral oedema of lower extremity", "Peripheral edema of lower extremity", "Pedal oedema", "Lower leg swelling"], "types": ["T046"], "definition": "An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. [HPO:probinson]", "canonical_name": "Edema of the lower limbs"} {"concept_id": "C0239377", "aliases": [], "types": ["T184"], "definition": "A sensation of discomfort emanating from the humerus or its supporting structures.", "canonical_name": "Upper limb pain"} {"concept_id": "C0239399", "aliases": ["Limb undergrowth", "Short limb", "Hypoplasia involving bones of the extremities", "limb shortening"], "types": ["T019"], "definition": "Limb shortening because of underdevelopment of one or more bones of the extremities. [HPO:probinson]", "canonical_name": "Short limbs"} {"concept_id": "C0239454", "aliases": ["Eyelid erythema", "Erythema of eyelid"], "types": ["T184"], "definition": "Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin. []", "canonical_name": "Erythema of the eyelids"} {"concept_id": "C0239479", "aliases": ["Round face", "Round facial shape", "Circular face", "Round facial appearance", "Round facies"], "types": ["T033"], "canonical_name": "Round face", "definition": "The facial appearance is more circular than usual as viewed from the front. [PMID:19125436]"} {"concept_id": "C0239483", "aliases": ["Cyanotic face", "Bluish face"], "types": ["T033"], "canonical_name": "Facial cyanosis", "definition": "Bluish discoloration of one or more regions of the face. [ORCID:0000-0002-9578-0788]"} {"concept_id": "C0239488", "aliases": ["Red in the face", "Red face", "Facial erythema"], "types": ["T033"], "definition": "Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. [HPO:probinson]", "canonical_name": "Blushed cheeks"} {"concept_id": "C0239548", "aliases": ["Twitching of the tongue", "Tongue fasciculations/fibrillations", "Tongue fasciculation", "Tongue twitching", "Lingual twitching", "Lingual fibrillations", "Lingual fasciculations"], "types": ["T033"], "definition": "Fasciculations or fibrillation affecting the tongue muscle. [HPO:probinson]", "canonical_name": "Tongue fasciculations"} {"concept_id": "C0239571", "aliases": ["Foetor hepaticus"], "types": ["T033"], "definition": "Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic. [PMID:10791209]", "canonical_name": "Fetor hepaticus"} {"concept_id": "C0239574", "aliases": ["Low-grade fever"], "types": ["T033"], "definition": "Body temperature ranging between 100.4 degrees Fahrenheit (38 degrees Celsius) and 102 degrees Fahrenheit (38.9 degrees Celsius).", "canonical_name": "Mild fever"} {"concept_id": "C0239589", "aliases": [], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger. [UToronto:chum]", "canonical_name": "Finger pain"} {"concept_id": "C0239594", "aliases": ["Stubby finger", "Stubby fingers"], "types": ["T033"], "canonical_name": "Short finger"} {"concept_id": "C0239596", "aliases": ["Stiff finger", "Finger stiffness"], "types": ["T184"], "canonical_name": "Stiff finger", "definition": "A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity. []"} {"concept_id": "C0239598", "aliases": ["Swelling of fingers", "Finger swelling", "Swollen fingers"], "types": ["T033"], "definition": "Enlargement of the soft tissues of one or more fingers. [PMID:16269085, PMID:19946526, PMID:24758199, PMID:9715244]", "canonical_name": "Swollen finger"} {"concept_id": "C0239653", "aliases": ["Itchy feet", "Itchy foot"], "types": ["T184"], "canonical_name": "Pruritus on foot", "definition": "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot. []"} {"concept_id": "C0239676", "aliases": ["High forehead", "Tall forehead"], "types": ["T033"], "canonical_name": "High forehead", "definition": "An abnormally increased height of the forehead. [HPO:probinson]"} {"concept_id": "C0239761", "aliases": ["Underdeveloped gonad"], "types": ["T019"], "canonical_name": "Gonadal hypoplasia"} {"concept_id": "C0239778", "aliases": [], "types": ["T033"], "canonical_name": "Green urine", "definition": "An abnormal green color of urine. [PMID:28413291]"} {"concept_id": "C0239783", "aliases": [], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region. []", "canonical_name": "Groin pain"} {"concept_id": "C0239803", "aliases": ["Ginger hair color", "Red hair", "Red hair colour", "Red head (hair color)", "Ginger hair colour"], "types": ["T033"], "canonical_name": "Red hair color"} {"concept_id": "C0239804", "aliases": [], "types": ["T033"], "definition": "Hypopigmented hair that appears white. [DDD:cmoss]", "canonical_name": "White hair"} {"concept_id": "C0239815", "aliases": ["Clenched hands", "Hand clenching", "Clenched hand"], "types": ["T033"], "canonical_name": "Hand clenching", "definition": "An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted. [HPO:sdoelken, PMID:10085502, PMID:16702456]"} {"concept_id": "C0239830", "aliases": ["Hand muscle degeneration", "Amyotrophy of hand muscles", "Hand muscle wasting, bilateral", "Hand muscle wasting", "Amyotrophy involving the musculature of the hand"], "types": ["T033"], "canonical_name": "Hand muscle atrophy", "definition": "Muscular atrophy involving the muscles of the hand. [HPO:curators]"} {"concept_id": "C0239831", "aliases": [], "types": ["T033"], "definition": "Reduced strength of the musculature of the hand. [HPO:probinson]", "canonical_name": "Hand muscle weakness"} {"concept_id": "C0239833", "aliases": [], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort localized to the hand. []", "canonical_name": "Hand pain"} {"concept_id": "C0239836", "aliases": ["Hand paresthesia"], "types": ["T184"], "definition": "Tingling (often refered to as a pins and needles feeling) and numbness in the hand. []", "canonical_name": "Hand tingling"} {"concept_id": "C0239842", "aliases": ["Tremor of hands", "Tremor of hand", "Hand tremor"], "types": ["T184"], "definition": "An unintentional, oscillating to-and-fro muscle movement affecting the hand. []", "canonical_name": "tremors in hands"} {"concept_id": "C0239882", "aliases": [], "types": ["T184"], "definition": "An unintentional, oscillating to-and-fro muscle movement affecting head movement. [HPO:probinson]", "canonical_name": "Head tremor"} {"concept_id": "C0239935", "aliases": ["Increased Hct"], "types": ["T033"], "definition": "An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. [HPO:probinson]", "canonical_name": "Increased hematocrit"} {"concept_id": "C0239937", "aliases": ["Occult hematuria", "Microscopic hematuria", "Microhematuria"], "types": ["T033"], "definition": "Microscopic hematuria detected by dipstick or microscopic examination of the urine. [HPO:sdoelken]", "canonical_name": "Small amount of blood in urine"} {"concept_id": "C0239941", "aliases": ["Persistence of haemoglobin F", "Increased hemoglobin F", "Persistence of HbF", "Increased haemoglobin F"], "types": ["T033"], "canonical_name": "Persistence of hemoglobin F", "definition": "A laboratory test result indicating an abnormal amount of fetal hemoglobin in a biological sample."} {"concept_id": "C0239946", "aliases": ["Hepatic fibrosis"], "types": ["T047"], "definition": "A condition in which the liver parenchyma is replaced by fibrous tissue. It may progress to cirrhosis of the liver.", "canonical_name": "Liver fibrosis"} {"concept_id": "C0239949", "aliases": [], "types": ["T033"], "definition": "The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux. [HPO:probinson, PMID:24085809]", "canonical_name": "Hepatojugular reflux"} {"concept_id": "C0239957", "aliases": ["Hip stiffness"], "types": ["T184"], "definition": "A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity. []", "canonical_name": "Stiff hip"} {"concept_id": "C0239981", "aliases": ["Hypoalbuminaemia", "Hypoalbuminemia"], "types": ["T047"], "definition": "A condition in which albumin level in blood (SERUM ALBUMIN) is below the normal range. Hypoalbuminemia may be due to decreased hepatic albumin synthesis, increased albumin catabolism, altered albumin distribution, or albumin loss through the urine (ALBUMINURIA).", "canonical_name": "Low blood albumin"} {"concept_id": "C0239984", "aliases": ["Elevated serum IgA", "Elevated IgA", "Increased serum IgA", "Increased levels of IgA", "IgA hypergammaglobulinemia"], "types": ["T033"], "canonical_name": "Increased circulating IgA level", "definition": "An abnormally increased level of immunoglobulin A in blood. [HPO:probinson]"} {"concept_id": "C0239989", "aliases": ["IgM deficiency", "Reduced IgM levels", "Decreased IgM level", "Decreased IgM"], "types": ["T033"], "canonical_name": "Decreased circulating total IgM", "definition": "An abnormally decreased level of immunoglobulin M (IgM) in blood. [HPO:probinson]"} {"concept_id": "C0239998", "aliases": ["Recurrent infections", "Frequent infections", "Predisposition to infections", "Increased frequency of infection", "infections, recurrent"], "types": ["T033"], "definition": "Increased susceptibility to infections. [HPO:probinson, HPO:skoehler]", "canonical_name": "Frequent, severe infections"} {"concept_id": "C0240017", "aliases": ["Muscle weakness between ribs"], "types": ["T033"], "canonical_name": "Intercostal muscle weakness", "definition": "Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. [HPO:probinson]"} {"concept_id": "C0240059", "aliases": ["Intraventricular haemorrhage"], "types": ["T046"], "definition": "Bleeding into the brain's ventricles.", "canonical_name": "Intraventricular hemorrhage"} {"concept_id": "C0240063", "aliases": ["Cat eye", "Coloboma of the iris", "Coloboma of iris", "Keyhole iris"], "types": ["T190"], "definition": "A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.", "canonical_name": "Iris coloboma"} {"concept_id": "C0240083", "aliases": ["Abnormality of the joints", "Anomaly of the joints", "Abnormal shape of joints"], "types": ["T033"], "canonical_name": "Abnormal joint morphology", "definition": "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. [HPO:probinson]"} {"concept_id": "C0240116", "aliases": ["Overactive knee reflex", "Hyperreflexia in knees", "Brisk knee jerk"], "types": ["T033"], "canonical_name": "Hyperactive patellar reflex"} {"concept_id": "C0240129", "aliases": ["Stiff knee"], "types": ["T184"], "definition": "A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity. []", "canonical_name": "Knee stiffness"} {"concept_id": "C0240182", "aliases": ["White discoloration of nails"], "types": ["T033"], "definition": "Any white discoloration of the nails or nail plates.", "canonical_name": "Leukonychia"} {"concept_id": "C0240194", "aliases": ["Lip cyanosis", "Cyanotic lips", "Bluish lips"], "types": ["T184"], "definition": "Bluish discoloration of the lips. [ORCID:0000-0002-9578-0788]", "canonical_name": "Labial cyanosis"} {"concept_id": "C0240200", "aliases": [], "types": ["T047"], "definition": "A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation. []", "canonical_name": "Lip fissure"} {"concept_id": "C0240211", "aliases": ["Swollen lip", "Swelling of the lip"], "types": ["T184"], "definition": "Enlargement of the lip typically due to fluid buildup or inflammation. [ORCID:0000-0001-5208-3432]", "canonical_name": "Edematous lip"} {"concept_id": "C0240215", "aliases": [], "types": ["T033"], "canonical_name": "Lip tremor", "definition": "An unintentional, oscillating to-and-fro muscle movement affecting the lip. []"} {"concept_id": "C0240231", "aliases": ["Increased long bone fracture rate"], "types": ["T033"], "canonical_name": "Fractures of the long bones", "definition": "An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). [HPO:curators]"} {"concept_id": "C0240278", "aliases": ["Swelling caused by excess lymph fluid under skin"], "types": ["T046"], "canonical_name": "Lymphatic obstruction"} {"concept_id": "C0240309", "aliases": ["Midface hyperplasia", "Big midface", "Hypertrophy of midface", "Midfacial excess", "Hyperplasia of midface", "Midfacial prominence", "Large midface"], "types": ["T190"], "definition": "Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face [HPO:probinson, PMID:19125436]", "canonical_name": "Overgrowth of the midface"} {"concept_id": "C0240310", "aliases": ["Upper jaw deficiency", "Small maxilla", "Micromaxilla", "Hypoplasia of the maxilla", "Hypoplasia of upper jaw bones", "Maxillary deficiency", "Hypoplastic maxillary bones", "Maxillary micrognathia", "Maxillary retrusion", "Decreased size of upper jaw", "Small upper jaw bones", "Decreased size of maxilla", "Small upper jaw", "Upper jaw retrusion"], "types": ["T019"], "definition": "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. [HPO:probinson]", "canonical_name": "Maxillary hypoplasia"} {"concept_id": "C0240318", "aliases": [], "types": ["T033"], "definition": "A mass present in the mediastinal space.", "canonical_name": "Mediastinal mass"} {"concept_id": "C0240327", "aliases": ["Metallic taste"], "types": ["T184"], "canonical_name": "Metallic taste in mouth"} {"concept_id": "C0240340", "aliases": ["Small teeth"], "types": ["T019"], "definition": "Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. [HPO:ibailleulforestier, PMID:19125428]", "canonical_name": "Microdontia"} {"concept_id": "C0240341", "aliases": [], "types": ["T033"], "definition": "A progressive reduction in amplitude during a writing task", "canonical_name": "Micrographia"} {"concept_id": "C0240344", "aliases": ["Migratory arthritis"], "types": ["T047"], "definition": "A form of reactive arthritis in which the inflammation moves between joints.", "canonical_name": "Migratory polyarthritis"} {"concept_id": "C0240379", "aliases": ["Gaped mouthed appearance", "Open mouth appearance", "Slack jawed appearance", "Open mouth"], "types": ["T033"], "definition": "A facial appearance characterized by a permanently or nearly permanently opened mouth. [HPO:probinson]", "canonical_name": "Gaped jawed appearance"} {"concept_id": "C0240412", "aliases": ["Intramuscular hematomas", "IM hematoma", "Intramuscular haematoma", "Intramuscular hemorrhage", "Intramuscular haemorrhage"], "types": ["T046"], "definition": "Blood clot formed within muscle tissue following leakage of blood into the tissue. [HPO:probinson]", "canonical_name": "Intramuscular hematoma"} {"concept_id": "C0240414", "aliases": ["Underdeveloped muscles", "Muscle hypoplasia", "Hypoplasia of the musculature", "Poorly developed skeletal musculature"], "types": ["T033"], "definition": "Underdevelopment of the musculature. [HPO:sdoelken]", "canonical_name": "Underdeveloped muscle"} {"concept_id": "C0240421", "aliases": ["Progressive muscular weakness", "Muscle weakness, progressive"], "types": ["T033"], "canonical_name": "Progressive muscle weakness"} {"concept_id": "C0240479", "aliases": ["Neck muscle weakness", "Flaccid neck", "Floppy neck"], "types": ["T033"], "canonical_name": "Neck muscle weakness", "definition": "Decreased strength of the neck musculature. [HPO:probinson]"} {"concept_id": "C0240526", "aliases": [], "types": ["T079"], "definition": "The time in every 24 hour period when it is dark.", "canonical_name": "Nocturnal"} {"concept_id": "C0240538", "aliases": ["Polly beak nasal deformity", "Convex nasal dorsum", "Hooked nose", "Convex dorsum of nose", "Beaked nose", "Beaklike protrusion"], "types": ["T033"], "canonical_name": "Convex nasal ridge", "definition": "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. [PMID:19152422]"} {"concept_id": "C0240543", "aliases": ["Bulbous nose"], "types": ["T033"], "canonical_name": "Bulbous nose", "definition": "Increased volume and globular shape of the anteroinferior aspect of the nose. [PMID:19152422]"} {"concept_id": "C0240547", "aliases": ["Nasal deformity"], "types": ["T033"], "canonical_name": "Deformity of the nose", "definition": "Any structural change to the nose that results in a defect, which may be cosmetic, functional, or both. The deformity may be congenital, as in the cases of cleft palate, a mass, or defective cartilage, or acquired, as in a fracture, a hematoma, mass, or scarring from a previous surgery."} {"concept_id": "C0240595", "aliases": ["Rotary nystagmus"], "types": ["T047"], "definition": "A form of nystagmus in which the eyeball makes rotary motions around the axis. [HPO:probinson]", "canonical_name": "Rotatory Nystagmus"} {"concept_id": "C0240621", "aliases": ["Palate edema", "Palatal oedema", "Palate oedema"], "types": ["T046"], "canonical_name": "Palatal edema", "definition": "Swelling related to fluid accumulation within the palate. []"} {"concept_id": "C0240635", "aliases": ["Ogival palate", "High arched palate", "Palate high-arched", "High palate", "High-arched palate", "Palate, high-arched", "Elevated palate", "Increased palatal height"], "types": ["T019"], "definition": "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). [PMID:19125428]", "canonical_name": "High, arched palate"} {"concept_id": "C0240649", "aliases": ["Itchy palm"], "types": ["T033"], "canonical_name": "Palmar pruritus", "definition": "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C0240671", "aliases": ["Delayed thromboplastin generation", "Partial thromboplastin time prolonged", "Abnormal partial thromboplastin time", "Prolonged PTT", "Prolonged partial thromboplastin time"], "types": ["T033"], "definition": "An abnormal laboratory test result in which the partial thromboplastin time is found to be greater than the control value. As a possible indicator of coagulopathy, a prolonged partial thromboplastin time (PTT) may occur in a variety of diseases and disorders, both primary and related to treatment.", "canonical_name": "Prolonged activated partial thromboplastin time"} {"concept_id": "C0240679", "aliases": ["Pelvic girdle muscle wasting"], "types": ["T047"], "canonical_name": "Pelvic girdle muscle atrophy", "definition": "Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles). [HPO:curators]"} {"concept_id": "C0240701", "aliases": [], "types": ["T033"], "definition": "Length of penis more than 2 SD below the mean for age accompanied by hypospadias. [HPO:probinson, PMID:23650202]", "canonical_name": "Microphallus"} {"concept_id": "C0240709", "aliases": [], "types": ["T033"], "canonical_name": "Pericardial constriction", "definition": "Compression of the heart caused by rigid, thickened, or fused pericardial membranes. [PMID:14966039]"} {"concept_id": "C0240733", "aliases": ["Fibularis muscle weakness"], "types": ["T033"], "canonical_name": "Peroneal muscle weakness", "definition": "Weakness of the peroneal muscles. [HPO:probinson]"} {"concept_id": "C0240735", "aliases": ["Personality changes"], "types": ["T048"], "definition": "A noticeable change in a person's behavior and thinking. Causes include depression, drug or alcohol abuse, brain injuries, brain tumors, and Alzheimer's disease.", "canonical_name": "Personality change"} {"concept_id": "C0240741", "aliases": ["Pharyngeal fluid", "Fluid from the pharynx"], "types": ["T033"], "canonical_name": "Pharyngeal exudate", "definition": "Fluid exuded from the posterior wall of the pharynx. [ORCID:0000-0002-9578-0788]"} {"concept_id": "C0240772", "aliases": ["Plantar oedema"], "types": ["T046"], "canonical_name": "Plantar edema", "definition": "An abnormal accumulation of fluid beneath the skin on sole of the foot. []"} {"concept_id": "C0240783", "aliases": ["Elevated plasma renin", "Hyperreninemia", "Elevated blood renin level", "Increased serum renin", "Increased plasma renin"], "types": ["T033"], "canonical_name": "Increased circulating renin level", "definition": "An increased level of renin in the blood. [HPO:probinson]"} {"concept_id": "C0240880", "aliases": [], "types": ["T190"], "canonical_name": "Rectoperineal fistula", "definition": "The presence of a fistula between the perineum and the rectum. [HPO:probinson]"} {"concept_id": "C0240896", "aliases": ["Birth defect that causes a hole in the innermost layer at the back of the eye", "Choroidoretinal coloboma"], "types": ["T019"], "definition": "Absence of a region of the retina, retinal pigment epithelium, and choroid. [HPO:probinson]", "canonical_name": "Chorioretinal coloboma"} {"concept_id": "C0240897", "aliases": ["Retinal exudates"], "types": ["T033"], "definition": "Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina. [HPO:probinson]", "canonical_name": "Retinal exudate"} {"concept_id": "C0240912", "aliases": ["Congenital vertical talus", "Rocker-bottom feet", "Rocker bottom foot", "Rockerbottom feet"], "types": ["T019"], "definition": "Congenital severe form of flatfoot involving dislocation of the NAVICULAR BONE OF FOOT on the TALUS.", "canonical_name": "Rocker bottom feet"} {"concept_id": "C0240914", "aliases": [], "types": ["T033"], "definition": "The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. [HPO:probinson]", "canonical_name": "Positive Romberg sign"} {"concept_id": "C0240928", "aliases": ["Salt craving"], "types": ["T184"], "canonical_name": "Salt craving", "definition": "An excessive desire to eat salt (sodium chloride) or salty foods. []"} {"concept_id": "C0240940", "aliases": [], "types": ["T184"], "definition": "Painful sensation in the skin covering the top and the back of the head.", "canonical_name": "Scalp pain"} {"concept_id": "C0240952", "aliases": [], "types": ["T048"], "definition": "An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly. [PMID:16247074]", "canonical_name": "Scanning speech"} {"concept_id": "C0240953", "aliases": ["Winged scapulas", "Scapula alata", "Winged shoulder blade", "Scapular winging"], "types": ["T190"], "definition": "Abnormal protrusion of the scapula away from the surface of the back. [HPO:probinson]", "canonical_name": "Winged scapulae"} {"concept_id": "C0240962", "aliases": ["Yellow sclera", "Scleral icterus", "Yellow conjunctiva", "Yellowing of the whites of the eyes"], "types": ["T033"], "definition": "Yellowing of the white part of the eyes, often due to a rise in bilirubin levels.", "canonical_name": "Conjunctival icterus"} {"concept_id": "C0240991", "aliases": ["Ataxia, sensory"], "types": ["T184"], "definition": "Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. [HPO:probinson]", "canonical_name": "Sensory ataxia"} {"concept_id": "C0240995", "aliases": ["Increased serum androstenedione"], "types": ["T033"], "canonical_name": "Increased circulating androstenedione concentration", "definition": "Increased concentration of androstenedione in the blood circulation. []"} {"concept_id": "C0240997", "aliases": ["Decreased circulating ceruloplasmin concentration", "Hypoceruloplasminemia", "Decreased serum ceruloplasminA", "Hypoceruloplasminaemia"], "types": ["T033"], "definition": "Decreased concentration of ceruloplasmin in the blood. [HPO:probinson, PMID:32119309]", "canonical_name": "Decreased serum ceruloplasmin"} {"concept_id": "C0241005", "aliases": ["Elevated circulating creatine kinase concentration", "High serum creatine kinase", "Elevated serum creatine kinase", "Increased serum creatine phosphokinase", "Increased serum CK", "Elevated serum creatine phosphokinase", "Elevated serum CPK"], "types": ["T033"], "definition": "An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. [HPO:probinson]", "canonical_name": "Increased serum creatine kinase"} {"concept_id": "C0241011", "aliases": [], "types": ["T033"], "definition": "A reduction below normal concentration of estradiol in the circulation. []", "canonical_name": "Decreased serum estradiol"} {"concept_id": "C0241012", "aliases": ["Decreased serum ferritin", "Decreased plasma ferritin", "Reduced serum ferritin"], "types": ["T033"], "canonical_name": "Decreased circulating ferritin concentration", "definition": "Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. [HPO:probinson]"} {"concept_id": "C0241013", "aliases": ["High ferritin level", "Increased plasma ferritin", "Increased serum ferritin level", "Increased circulating ferritin concentration"], "types": ["T033"], "definition": "Increased concentration of ferritin in the blood circulation. [HPO:probinson]", "canonical_name": "Elevated serum ferritin"} {"concept_id": "C0241042", "aliases": [], "types": ["T184"], "definition": "Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity. [HPO:probinson]", "canonical_name": "Stiff shoulders"} {"concept_id": "C0241054", "aliases": [], "types": ["T033"], "canonical_name": "Skin bullae"} {"concept_id": "C0241060", "aliases": [], "types": ["T190"], "definition": "A cystic lesion located in the skin.", "canonical_name": "Cutaneous cyst"} {"concept_id": "C0241074", "aliases": ["Stretchable skin", "Hyperextensible skin", "Hyperelastic skin", "Skin hyperelasticity"], "types": ["T033"], "definition": "A condition in which the skin can be stretched beyond normal, and then returns to its initial position. [HPO:sdoelken]", "canonical_name": "Skin hyperextensibility"} {"concept_id": "C0241128", "aliases": [], "types": ["T033"], "canonical_name": "Nikolsky's sign"} {"concept_id": "C0241148", "aliases": [], "types": ["T033"], "definition": "A large (greater than 5-10 mm) raised skin lesion with a wide, flat surface.", "canonical_name": "Skin plaque"} {"concept_id": "C0241157", "aliases": ["Pustular lesion", "Skin pustules", "Skin pustule", "Pustula", "Pustules"], "types": ["T033"], "definition": "A circumscribed and elevated skin lesion filled with purulent material.", "canonical_name": "Pustule"} {"concept_id": "C0241158", "aliases": [], "types": ["T033"], "definition": "Formation of new tissue formed in the healing of a wound.", "canonical_name": "Scar tissue"} {"concept_id": "C0241165", "aliases": ["Thick skin", "Pachydermia"], "types": ["T033"], "definition": "Laminar thickening of skin. [HPO:sdoelken]", "canonical_name": "Thickened skin"} {"concept_id": "C0241178", "aliases": ["Velvety skin texture"], "types": ["T033"], "canonical_name": "Velvety skin"} {"concept_id": "C0241181", "aliases": ["Skin fragility"], "types": ["T033"], "definition": "Skin that splits easily with minimal injury. [HPO:probinson]", "canonical_name": "Fragile skin"} {"concept_id": "C0241185", "aliases": ["Smooth muscle antibody positive", "Smooth muscle antibody positivity"], "types": ["T034"], "definition": "The presence in serum of antibodies against smooth muscle. [HPO:probinson]", "canonical_name": "Anti-smooth muscle antibody positivity"} {"concept_id": "C0241186", "aliases": [], "types": ["T033"], "definition": "A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout. [PMID:21250236]", "canonical_name": "Snout reflex"} {"concept_id": "C0241210", "aliases": ["Poor speech acquisition", "Delayed speech development", "Deficiency of speech development", "Speech delay", "Late-onset speech development", "Impaired speech development", "Delayed speech", "Delayed speech acquisition"], "types": ["T048"], "canonical_name": "Poor speech development"} {"concept_id": "C0241224", "aliases": [], "types": ["T033"], "canonical_name": "Spinal cord lesion"} {"concept_id": "C0241234", "aliases": [], "types": ["T033"], "definition": "An increased proportion of eosinophils in sputum in the differentiated cell count. [HPO:probinson, PMID:23741092, PMID:29146301]", "canonical_name": "Sputum eosinophilia"} {"concept_id": "C0241237", "aliases": ["Difficulty in standing", "Standing instability"], "types": ["T184"], "canonical_name": "Difficulty standing"} {"concept_id": "C0241240", "aliases": ["Increased linear growth", "Tall stature", "Increased body height"], "types": ["T033"], "definition": "Height greater than two standard deviations above the mean of the appropriate reference population for the age and sex of the individual.", "canonical_name": "Accelerated linear growth"} {"concept_id": "C0241262", "aliases": [], "types": ["T047"], "definition": "A pathological finding in which inflammation, hyperemia and enlarged papillae of the dorsum of the tongue resemble a strawberry. It may be seen in variety of bacterial and viral disorders, and in non-infectious disorders such as Kawasaki disease.", "canonical_name": "Strawberry tongue"} {"concept_id": "C0241267", "aliases": ["Absent fat below the skin", "Lack of fatty tissue below the skin", "General absence of subcutaneous fat"], "types": ["T033"], "canonical_name": "Absence of subcutaneous fat", "definition": "Lack of subcutaneous adipose tissue. [HPO:probinson]"} {"concept_id": "C0241314", "aliases": ["Sweet craving"], "types": ["T033"], "canonical_name": "Sweet craving", "definition": "Excessive desire to eat sweet foods. [ICM:PCaroppo]"} {"concept_id": "C0241353", "aliases": [], "types": ["T033"], "definition": "An abnormal growth in the testis.", "canonical_name": "Testicular mass"} {"concept_id": "C0241355", "aliases": ["Hypoplastic testes", "Decreased testicular size", "Small testes", "Small testis"], "types": ["T033"], "definition": "Reduced volume of the testicle (the male gonad). [HPO:probinson]", "canonical_name": "Testicular hypoplasia"} {"concept_id": "C0241358", "aliases": [], "types": ["T033"], "canonical_name": "Increased testosterone"} {"concept_id": "C0241395", "aliases": ["Spoon shaped thumbs"], "types": ["T033"], "canonical_name": "Spatulate thumbs", "definition": "Spoon-shaped, broad thumbs. [HPO:curators]"} {"concept_id": "C0241397", "aliases": ["Triphalangeal thumbs", "Finger-like thumb", "Accessory phalanx of the thumb", "Triphalangy of thumb", "Digitalized thumb"], "types": ["T019"], "definition": "A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. [HPO:probinson, PMID:19125433]", "canonical_name": "Triphalangeal thumb"} {"concept_id": "C0241416", "aliases": [], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe. [UToronto:chum]", "canonical_name": "Toe pain"} {"concept_id": "C0241423", "aliases": ["Lingual atrophy", "Atrophy of the tongue"], "types": ["T047"], "definition": "Wasting of the tongue. [ORCID:0000-0001-5208-3432]", "canonical_name": "Tongue atrophy"} {"concept_id": "C0241438", "aliases": ["Tongue nodules"], "types": ["T033"], "canonical_name": "Lingual nodules"} {"concept_id": "C0241442", "aliases": ["Lingual prolapse", "Lingual protrusion", "Protruding tongue", "Prominent tongue", "Tongue sticking out of mouth", "Lingual prominence", "Tongue protrusion"], "types": ["T033"], "definition": "Tongue extending beyond the alveolar ridges or teeth at rest. [PMID:19125428]", "canonical_name": "Prolapse of tongue"} {"concept_id": "C0241446", "aliases": [], "types": ["T033"], "definition": "An unintentional, oscillating to-and-fro muscle movement affecting the tongue. []", "canonical_name": "Tongue tremor"} {"concept_id": "C0241474", "aliases": ["Hyporeflexia of triceps"], "types": ["T033"], "canonical_name": "Triceps hyporeflexia", "definition": "Reduced intensity of the triceps tendon reflex. []"} {"concept_id": "C0241521", "aliases": ["Ulnar deviation of hands", "Ulnar deviation of the hand"], "types": ["T033"], "definition": "Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). [HPO:probinson, PMID:19125433]", "canonical_name": "Ulnar deviation of the hands"} {"concept_id": "C0241577", "aliases": ["Elevated urinary catecholamines"], "types": ["T033"], "canonical_name": "Elevated urinary catecholamines", "definition": "An increased concentration of catecholamine in the urine. [HPO:probinson]"} {"concept_id": "C0241633", "aliases": [], "types": ["T033"], "definition": "An uncomfortable feeling of itching and burning in the vaginal opening resulting from inadequate vaginal lubrication. It is commonly seen during and after menopause, childbirth, or stressful conditions. It results in painful intercourse.", "canonical_name": "Vaginal dryness"} {"concept_id": "C0241654", "aliases": ["Valvular abnormality", "Abnormality of the heart valves"], "types": ["T033"], "canonical_name": "Abnormal heart valve morphology", "definition": "Any structural abnormality of a cardiac valve. [HPO:probinson]"} {"concept_id": "C0241657", "aliases": ["Vascular abnormalities", "Abnormality of the vasculature", "Abnormality of blood vessels"], "types": ["T033"], "canonical_name": "Abnormality of the vasculature", "definition": "An abnormality of the vasculature. [HPO:probinson]"} {"concept_id": "C0241665", "aliases": ["Abnormal vein", "Venous abnormality"], "types": ["T190"], "canonical_name": "Abnormal venous morphology", "definition": "An anomaly of vein. [HPO:probinson]"} {"concept_id": "C0241688", "aliases": ["Kalnienk vision", "Loss of peripheral vision"], "types": ["T033"], "canonical_name": "Peripheral visual field loss", "definition": "Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. [HPO:probinson]"} {"concept_id": "C0241700", "aliases": ["Quiet voice", "Weak voice"], "types": ["T033"], "definition": "Reduced intensity (volume) of speech. [HPO:probinson]", "canonical_name": "Soft voice"} {"concept_id": "C0241703", "aliases": ["High-pitched voice"], "types": ["T033"], "definition": "An abnormal increase in the pitch (frequency) of the voice. [HPO:probinson]", "canonical_name": "High pitched voice"} {"concept_id": "C0241726", "aliases": ["Delayed walking"], "types": ["T033"], "canonical_name": "Delayed ability to walk", "definition": "A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. []"} {"concept_id": "C0241759", "aliases": ["Wrist stiffness"], "types": ["T184"], "definition": "A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity. []", "canonical_name": "Stiff wrist"} {"concept_id": "C0241760", "aliases": ["Wrist swelling"], "types": ["T046"], "canonical_name": "Wrist swelling"} {"concept_id": "C0241764", "aliases": ["X-linked inheritance", "X-linked form"], "types": ["T045"], "definition": "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [HPO:curators]", "canonical_name": "X-linked"} {"concept_id": "C0241772", "aliases": ["Absent deep tendon reflexes", "Loss of deep tendon reflexes"], "types": ["T033"], "canonical_name": "Deep tendon reflexes absent"} {"concept_id": "C0241775", "aliases": [], "types": ["T033"], "canonical_name": "Organic aciduria", "definition": "Excretion of non-amino organic acids in urine. [HPO:probinson]"} {"concept_id": "C0241816", "aliases": ["Generalised brain degeneration", "Generalized brain atrophy", "Generalized cerebral atrophy", "Diffuse brain atrophy", "Generalised cerebral atrophy", "Generalised brain atrophy", "Generalized brain degeneration"], "types": ["T046"], "canonical_name": "Global brain atrophy", "definition": "Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. [HPO:sdoelken]"} {"concept_id": "C0241889", "aliases": [], "types": ["T033"], "definition": "A record of a patient's background regarding health and disease events of blood relatives. A patient's family medical history may be important in diagnosing existing conditions.", "canonical_name": "Family history"} {"concept_id": "C0241961", "aliases": ["Angiomyolipoma", "Kidney angiomyolipoma"], "types": ["T191"], "definition": "An angiomyolipoma arising from the kidney.", "canonical_name": "Renal angiomyolipoma"} {"concept_id": "C0241982", "aliases": ["Pulmonary bullae"], "types": ["T047"], "definition": "Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema. [PMID:18195376, PMID:20028879, PMID:24106540]", "canonical_name": "Pulmonary bulla"} {"concept_id": "C0241984", "aliases": ["Honeycombing", "Honeycomb cysts"], "types": ["T047"], "definition": "Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care. [PMID:18195376]", "canonical_name": "Honeycomb lung"} {"concept_id": "C0241989", "aliases": [], "types": ["T191"], "definition": "A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria.", "canonical_name": "Vulvar melanoma"} {"concept_id": "C0242184", "aliases": [], "types": ["T046"], "definition": "Sub-optimal OXYGEN levels in the ambient air of living organisms.", "canonical_name": "Hypoxia"} {"concept_id": "C0242225", "aliases": [], "types": ["T047"], "definition": "The absence of or defect in the perception of colors.", "canonical_name": "Colour vision defects"} {"concept_id": "C0242231", "aliases": ["Narrowing of coronary artery"], "types": ["T047"], "definition": "Narrowing or constriction of a coronary artery.", "canonical_name": "Coronary artery stenosis"} {"concept_id": "C0242301", "aliases": ["Furuncle"], "types": ["T047"], "definition": "Bacterial infection of the hair follicle and the surrounding skin. It is caused by Staphylococcus aureus. It presents as a painful, erythematous and swollen skin lesion.", "canonical_name": "Boil"} {"concept_id": "C0242339", "aliases": ["Dyslipidemia"], "types": ["T047"], "definition": "A lipoprotein metabolism disorder characterized by decreased levels of high-density lipoproteins, or elevated levels of plasma cholesterol, low-density lipoproteins and/or triglycerides.", "canonical_name": "Dyslipidaemia"} {"concept_id": "C0242343", "aliases": [], "types": ["T047"], "definition": "Insufficient production of all the anterior pituitary hormones.", "canonical_name": "Panhypopituitarism"} {"concept_id": "C0242350", "aliases": ["Difficulty getting a full erection", "Erectile abnormalities", "Impotence", "Abnormal erection", "Difficulty getting an erection"], "types": ["T047"], "definition": "The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction.", "canonical_name": "Erectile dysfunction"} {"concept_id": "C0242363", "aliases": ["Pancreatic endocrine tumour"], "types": ["T191"], "definition": "A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. [HPO:probinson]", "canonical_name": "Pancreatic endocrine tumor"} {"concept_id": "C0242379", "aliases": [], "types": ["T191"], "definition": "A primary or metastatic malignant neoplasm involving the lung.", "canonical_name": "Lung cancer"} {"concept_id": "C0242385", "aliases": [], "types": ["T033"], "definition": "An abnormal occlusion where some of the mandibular teeth are buccal to the maxillary teeth.", "canonical_name": "Cross bite"} {"concept_id": "C0242387", "aliases": ["Mandibulofacial dysostosis"], "types": ["T047"], "definition": "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)", "canonical_name": "Treacher Collins syndrome"} {"concept_id": "C0242422", "aliases": ["Parkinsonian disease"], "types": ["T047"], "definition": "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.", "canonical_name": "Parkinsonism"} {"concept_id": "C0242426", "aliases": [], "types": ["T047"], "definition": "Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct. [HPO:probinson]", "canonical_name": "Chylopericardium"} {"concept_id": "C0242528", "aliases": ["Azotaemia"], "types": ["T047"], "definition": "A biochemical abnormality referring to an elevation of BLOOD UREA NITROGEN and CREATININE. Azotemia can be produced by KIDNEY DISEASES or other extrarenal disorders. When azotemia becomes associated with a constellation of clinical signs, it is termed UREMIA.", "canonical_name": "Azotemia"} {"concept_id": "C0242567", "aliases": [], "types": ["T047"], "definition": "A rapid, multivectorial, conjugate, involuntary eye movement, without an intersaccadic interval.", "canonical_name": "Opsoclonus"} {"concept_id": "C0242584", "aliases": ["Autoimmune thrombocytopenia"], "types": ["T047"], "definition": "The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. [DDD:wouwehand]", "canonical_name": "Immune thrombocytopenia"} {"concept_id": "C0242606", "aliases": [], "types": ["T049"], "definition": "A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi).", "canonical_name": "Oxidative stress"} {"concept_id": "C0242666", "aliases": [], "types": ["T047"], "definition": "An autosomal dominant disorder showing decreased levels of plasma protein S antigen or activity, associated with venous thrombosis and pulmonary embolism. PROTEIN S is a vitamin K-dependent plasma protein that inhibits blood clotting by serving as a cofactor for activated PROTEIN C (also a vitamin K-dependent protein), and the clinical manifestations of its deficiency are virtually identical to those of protein C deficiency. Treatment with heparin for acute thrombotic processes is usually followed by maintenance administration of coumarin drugs for the prevention of recurrent thrombosis. (From Harrison's Principles of Internal Medicine, 12th ed, p1511; Wintrobe's Clinical Hematology, 9th ed, p1523)", "canonical_name": "Protein S deficiency"} {"concept_id": "C0242698", "aliases": ["Abnormal left ventricular function", "Left ventricular dysfunction", "Impaired left ventricular function"], "types": ["T046"], "definition": "A condition in which the LEFT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE; MYOCARDIAL INFARCTION; and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the left ventricular wall.", "canonical_name": "Left ventricular impairment"} {"concept_id": "C0242770", "aliases": ["Cryptogenic organizing pneumonia", "Bronchiolitis obliterans organizing pneumonia", "Cryptogenic organising pneumonia", "Bronchiolitis obliterans organising pneumonia"], "types": ["T047"], "definition": "A form of organizing pneumonia with a non-infectious etiology. Excessive proliferation of granulation tissue occurs in alveolar ducts and alveoli and primarily causes injury to alveolar walls, but bronchioles may be affected.", "canonical_name": "BOOP"} {"concept_id": "C0242855", "aliases": [], "types": ["T047"], "definition": "A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breathing, CYANOSIS, right ventricle atrophy, and abnormal heart sounds (HEART MURMURS).", "canonical_name": "Pulmonary valve atresia"} {"concept_id": "C0242960", "aliases": ["Heterogeneity", "Heterogeneous"], "types": ["T032"], "definition": "The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)", "canonical_name": "Genetic heterogeneity"} {"concept_id": "C0242979", "aliases": [], "types": ["T033"], "definition": "A state arrived at through prolonged and strong contraction of a muscle. Studies in athletes during prolonged submaximal exercise have shown that muscle fatigue increases in almost direct proportion to the rate of muscle glycogen depletion. Muscle fatigue in short-term maximal exercise is associated with oxygen lack and an increased level of blood and muscle lactic acid, and an accompanying increase in hydrogen-ion concentration in the exercised muscle.", "canonical_name": "Muscle fatigue"} {"concept_id": "C0243002", "aliases": ["Tricuspid atresia"], "types": ["T019"], "definition": "Absence of the orifice between the RIGHT ATRIUM and RIGHT VENTRICLE, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR) because the right ventricle is absent or not functional.", "canonical_name": "Tricuspid valve atresia"} {"concept_id": "C0243010", "aliases": [], "types": ["T047"], "definition": "Inflammation of brain parenchymal tissue as a result of viral infection. Encephalitis may occur as primary or secondary manifestation of TOGAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; BUNYAVIRIDAE INFECTIONS; PICORNAVIRIDAE INFECTIONS; PARAMYXOVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RETROVIRIDAE INFECTIONS; and ARENAVIRIDAE INFECTIONS.", "canonical_name": "Viral encephalitis"} {"concept_id": "C0243050", "aliases": ["Abnormality of the cardiovascular system"], "types": ["T019"], "definition": "Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.", "canonical_name": "Cardiovascular abnormality"} {"concept_id": "C0259771", "aliases": [], "types": ["T191"], "definition": "A disorder characterized by multiple, wide spread cutaneous cysts that often become inflamed and rupture. It is caused by the same mutations in the gene coding for KRT-17 that are causative mutations for Pachyonychia congenita, Type 2. Natal teeth involvement is sometimes associated with steatocystoma multiplex.", "canonical_name": "Steatocystoma multiplex"} {"concept_id": "C0259779", "aliases": [], "types": ["T191"], "definition": "A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).", "canonical_name": "Fibrous dysplasia of the bones"} {"concept_id": "C0259817", "aliases": [], "types": ["T047"], "canonical_name": "Xerosis"} {"concept_id": "C0260515", "aliases": [], "types": ["T033"], "definition": "A record of a patient's medical background regarding the cancer and cancer-related problems of blood relatives.", "canonical_name": "Family history of cancer"} {"concept_id": "C0262361", "aliases": ["Growth issue", "Abnormal growth", "Growth abnormality"], "types": ["T033"], "canonical_name": "Growth abnormality"} {"concept_id": "C0262374", "aliases": ["Anal stenosis"], "types": ["T190"], "definition": "Narrowing of the anal canal.", "canonical_name": "Narrowing of anal opening"} {"concept_id": "C0262393", "aliases": ["Bladder prolapse"], "types": ["T047"], "canonical_name": "Prolapsed bladder"} {"concept_id": "C0262401", "aliases": [], "types": ["T191"], "definition": "A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.", "canonical_name": "Ampulla of Vater carcinoma"} {"concept_id": "C0262404", "aliases": [], "types": ["T047"], "definition": "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.", "canonical_name": "Degeneration of cerebellum"} {"concept_id": "C0262414", "aliases": ["Fractured cervical vertebra"], "types": ["T037"], "definition": "A partial or complete breakage of the cervical vertebra. []", "canonical_name": "bone cervical vertebra"} {"concept_id": "C0262431", "aliases": ["Vertebral compression fracture", "Vertebral body compression", "Vertebral compression fractures", "Vertebral compression or collapse", "Fractures of vertebral bodies", "Vertebral compression"], "types": ["T046"], "canonical_name": "Compression fracture of a vertebral body"} {"concept_id": "C0262444", "aliases": ["Abnormality of the teeth", "Dental anomalies", "Abnormality of the dentition", "Abnormal dentition", "Dental abnormality", "Dental abnormalities"], "types": ["T033"], "definition": "disorders of the dental system that exist at, and usually before, birth regardless of their causation.", "canonical_name": "Abnormal teeth"} {"concept_id": "C0262461", "aliases": ["Eccentric fixation"], "types": ["T033"], "canonical_name": "Eccentric visual fixation", "definition": "A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C0262463", "aliases": ["Increased blood lead level"], "types": ["T033"], "definition": "Detection of lead in the blood. []", "canonical_name": "Positive blood lead test"} {"concept_id": "C0262475", "aliases": ["Abnormality of the Eustachian tube"], "types": ["T019"], "definition": "A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders. [PMID:34383758]", "canonical_name": "Abnormal Eustachian tube morphology"} {"concept_id": "C0262478", "aliases": [], "types": ["T033"], "definition": "Excessive wrinkling of the skin of the face. [HPO:curators]", "canonical_name": "Facial wrinkling"} {"concept_id": "C0262527", "aliases": [], "types": ["T184"], "canonical_name": "Intermittent abdominal pain"} {"concept_id": "C0262544", "aliases": ["bone lumbar vertebra"], "types": ["T037"], "definition": "A fracture of one of the lumbar vertebra.", "canonical_name": "Fractured lumbar vertebra"} {"concept_id": "C0262587", "aliases": ["Parathyroid adenoma"], "types": ["T191"], "definition": "A neoplasm arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent. Overall cure rates are excellent following excision of the abnormal gland(s).", "canonical_name": "Parathyroid adenomas"} {"concept_id": "C0262621", "aliases": ["Abnormality of the sacroiliac joint"], "types": ["T190"], "canonical_name": "Abnormal sacroiliac joint morphology", "definition": "An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). [HPO:probinson, PMID:16700283]"} {"concept_id": "C0262630", "aliases": ["Short attention span", "Poor attention span"], "types": ["T033"], "definition": "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder. [HPO:curators]", "canonical_name": "Problem paying attention"} {"concept_id": "C0262643", "aliases": ["Abnormality of the sweat gland"], "types": ["T190"], "canonical_name": "Abnormal sweat gland morphology", "definition": "Any structural abnormality of the sweat gland. [HPO:probinson]"} {"concept_id": "C0262650", "aliases": ["Abnormality of the thymus"], "types": ["T190"], "canonical_name": "Abnormality of the thymus", "definition": "Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. [HPO:probinson]"} {"concept_id": "C0262655", "aliases": ["Frequent urinary tract infections", "Urinary tract infections", "Urinary tract infections, recurrent", "Repeated bladder infections", "Repeated urinary tract infections", "Recurrent UTIs"], "types": ["T047"], "definition": "Repeated infections of the urinary tract. [HPO:probinson]", "canonical_name": "Recurrent urinary tract infections"} {"concept_id": "C0262665", "aliases": ["Abnormality of the vocal cords"], "types": ["T033"], "canonical_name": "Abnormal vocal cord morphology", "definition": "An abnormality of the vocal cord. [HPO:probinson]"} {"concept_id": "C0262666", "aliases": [], "types": ["T047"], "definition": "A circumscribed area of pus or necrotic debris in the vulvar region. [PMID:27617247]", "canonical_name": "Vulvar abscess"} {"concept_id": "C0262985", "aliases": [], "types": ["T047"], "definition": "A chronic, sporadic, acquired pruritic non-infectious skin condition characterized by one or more well defined inflamed (pink or red) patches or plaques of varying size.", "canonical_name": "Psoriasiform dermatitis"} {"concept_id": "C0262988", "aliases": ["Vasculitis in the skin"], "types": ["T047"], "definition": "Inflammation of the blood vessel wall characterized by palpable purpura.", "canonical_name": "Cutaneous vasculitis"} {"concept_id": "C0263006", "aliases": ["Perifollicular inflammation"], "types": ["T047"], "definition": "Inflammation surrounding hair follicles. [HPO:probinson]", "canonical_name": "Perifolliculitis"} {"concept_id": "C0263109", "aliases": ["Inguinal abscess"], "types": ["T047"], "definition": "A circumscribed area of pus or necrotic debris in the groin (inguinal region). [PMID:23537455]", "canonical_name": "Groin abscess"} {"concept_id": "C0263237", "aliases": [], "types": ["T047"], "definition": "A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic. [PMID:33008676]", "canonical_name": "Vesicular eruption"} {"concept_id": "C0263334", "aliases": [], "types": ["T047"], "definition": "A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin. [PMID:22346281]", "canonical_name": "Aquagenic urticaria"} {"concept_id": "C0263383", "aliases": ["Follicular plugging", "Chicken skin", "Hyperkeratosis pilaris", "Lichen pilaris", "Follicular keratosis", "Carpet tack sign", "Follicular keratotic plug"], "types": ["T047"], "definition": "A very common, non-neoplastic dermatologic disorder characterized by keratinization of hair follicles of the skin. It manifests as small, rough folliculocentric keratotic papules, usually in the outer-upper arms and thighs. It affects children and adolescents and usually improves with age.", "canonical_name": "Keratosis pilaris"} {"concept_id": "C0263401", "aliases": [], "types": ["T047"], "definition": "a variable physiological livedo reticularis", "canonical_name": "Cutis marmorata"} {"concept_id": "C0263402", "aliases": [], "types": ["T047"], "canonical_name": "Telangiectasia macularis eruptiva perstans"} {"concept_id": "C0263417", "aliases": ["Cutis gyrata of scalp", "Cutis verticis gyrata", "Furrows in thickened skin on top of scalp"], "types": ["T047"], "definition": "The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. [HPO:probinson]", "canonical_name": "Thickened folds on top of scalp"} {"concept_id": "C0263420", "aliases": ["Hyperkeratosis lenticularis perstans"], "types": ["T047"], "definition": "Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa. [HPO:probinson]", "canonical_name": "Flegel disease"} {"concept_id": "C0263428", "aliases": ["Atrophodermia vermiculata"], "types": ["T047"], "definition": "Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions. [HPO:probinson]", "canonical_name": "Vermiculata atrophoderma"} {"concept_id": "C0263449", "aliases": [], "types": ["T047"], "definition": "A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)", "canonical_name": "Perioral dermatitis"} {"concept_id": "C0263472", "aliases": ["Bromhidrosis", "Bromidrosis"], "types": ["T047"], "canonical_name": "Osmidrosis"} {"concept_id": "C0263485", "aliases": [], "types": ["T047"], "definition": "Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. [HPO:curators]", "canonical_name": "Trichorrhexis nodosa"} {"concept_id": "C0263490", "aliases": [], "types": ["T047"], "definition": "Fragile, easily breakable hair, i.e., with reduced tensile strength. [DDD:cmoss]", "canonical_name": "Brittle hair"} {"concept_id": "C0263491", "aliases": ["Pili torti"], "types": ["T033"], "definition": "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. [HPO:probinson]", "canonical_name": "Flattened and twisted hair"} {"concept_id": "C0263498", "aliases": ["Premature greying of hair", "Premature greying", "Premature hair greying", "Premature graying", "Premature graying of hair", "Early graying", "Early greying", "Premature greying of the hair", "Premature hair graying"], "types": ["T033"], "definition": "Development of gray hair at a younger than normal age. [HPO:probinson]", "canonical_name": "Premature graying of the hair"} {"concept_id": "C0263504", "aliases": ["Total alopecia"], "types": ["T047"], "definition": "Loss of all scalp hair. [HPO:probinson]", "canonical_name": "Alopecia totalis"} {"concept_id": "C0263505", "aliases": ["Universal alopecia", "Alopecia universalis"], "types": ["T047"], "definition": "Loss of all hair on the entire body. [HPO:probinson]", "canonical_name": "Alopecia, complete"} {"concept_id": "C0263518", "aliases": [], "types": ["T047"], "definition": "A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.", "canonical_name": "Telogen effluvium"} {"concept_id": "C0263519", "aliases": [], "types": ["T047"], "definition": "An abnormal loss of anagen (growth phase) hairs. [PMID:28332382]", "canonical_name": "Anagen effluvium"} {"concept_id": "C0263523", "aliases": ["Nail hypoplasia", "Hypoplastic nail", "Hypoplastic nails", "Small nail"], "types": ["T033"], "definition": "A nail that is diminished in length and width, i.e., underdeveloped nail. [HPO:probinson, PMID:19125433]", "canonical_name": "Small nails"} {"concept_id": "C0263526", "aliases": ["Median nail dystrophy"], "types": ["T047"], "definition": "The presence of a depressed line (canal\") in the center of the nail.\" []", "canonical_name": "Central nail canal"} {"concept_id": "C0263530", "aliases": ["Longitudinal splitting of nail"], "types": ["T033"], "definition": "A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature. [PMID:19125433]", "canonical_name": "Split nail"} {"concept_id": "C0263534", "aliases": ["Beau lines", "Ladder nail sign", "Beau's lines"], "types": ["T184"], "definition": "Linear transverse/horizontal groove of one or more nail plates that migrate distally from the proximal nail fold with nail growth, usually secondary to illness, trauma or malnutrition.", "canonical_name": "Ladder nail"} {"concept_id": "C0263536", "aliases": [], "types": ["T047"], "definition": "Thickened nails without deformity. [HPO:probinson]", "canonical_name": "Onychauxis"} {"concept_id": "C0263537", "aliases": ["Dystrophic thickened nails", "Thickened nails", "Onychogryposis"], "types": ["T047"], "definition": "Nail that appears thick when viewed on end. [PMID:19125433]", "canonical_name": "Thick nail"} {"concept_id": "C0263540", "aliases": [], "types": ["T033"], "definition": "Loss of all or a portion of a nail.", "canonical_name": "Onychomadesis"} {"concept_id": "C0263610", "aliases": [], "types": ["T047"], "definition": "Chromophore-dependent photodermatosis triggered by UV and visible light.", "canonical_name": "Solar urticaria"} {"concept_id": "C0263625", "aliases": ["Skin calcification"], "types": ["T047"], "definition": "Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). [HPO:probinson]", "canonical_name": "Subcutaneous calcification"} {"concept_id": "C0263654", "aliases": [], "types": ["T047"], "definition": "Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum. []", "canonical_name": "Piezogenic pedal papules"} {"concept_id": "C0263780", "aliases": [], "types": ["T047"], "definition": "Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. [HPO:probinson, PMID:10531070, PMID:9709182]", "canonical_name": "Bouchard's node"} {"concept_id": "C0263854", "aliases": [], "types": ["T047"], "definition": "Arthritis of the cervical spine.", "canonical_name": "Neck arthritis"} {"concept_id": "C0263870", "aliases": ["Narrow intervertebral disc spaces", "Narrow intervertebral spaces"], "types": ["T033"], "definition": "Decreased height of the intervertebral disk. [HPO:probinson]", "canonical_name": "Intervertebral space narrowing"} {"concept_id": "C0263905", "aliases": ["Atlanto-axial subluxation", "Atlantoaxial subluxation"], "types": ["T037"], "definition": "Partial dislocation of the atlantoaxial joint. [HPO:curators]", "canonical_name": "Atlantoaxial dislocation"} {"concept_id": "C0263925", "aliases": [], "types": ["T033"], "definition": "Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic. [HPO:curators]", "canonical_name": "Iliac horns"} {"concept_id": "C0263933", "aliases": [], "types": ["T047"], "definition": "Inflammation of the Achilles tendon. []", "canonical_name": "Achilles tendonitis"} {"concept_id": "C0264000", "aliases": ["Knuckle pads on dorsal aspect of finger joints"], "types": ["T047"], "definition": "Benign skin fibromas, typically occurring over the small joints of the hands and feet, that are associated with repetitive friction or pressure.", "canonical_name": "Knuckle pad"} {"concept_id": "C0264005", "aliases": [], "types": ["T047"], "definition": "Inflammation and induration of the fascia related to an accumulation of white blood cells, including eosinophils.", "canonical_name": "Eosinophilic fasciitis"} {"concept_id": "C0264112", "aliases": ["Wedge-shaped vertebrae", "Vertebral wedging", "Wedged vertebrae"], "types": ["T190"], "definition": "An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. [HPO:probinson]", "canonical_name": "anterior wedging"} {"concept_id": "C0264133", "aliases": [], "types": ["T020"], "canonical_name": "Fallen arches"} {"concept_id": "C0264134", "aliases": ["Arthritis of the big toe"], "types": ["T047"], "definition": "A condition caused by degenerative arthritis (see OSTEOARTHRITIS) of the METATARSOPHALANGEAL JOINT of the great toe and characterized by pain and limited dorsiflexion, but relatively unrestricted plantar flexion.", "canonical_name": "Hallux rigidus"} {"concept_id": "C0264142", "aliases": ["Broad palm", "Broad hands", "Wide palm"], "types": ["T019"], "definition": "For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. [HPO:probinson, PMID:19125433]", "canonical_name": "Broad hand"} {"concept_id": "C0264162", "aliases": [], "types": ["T020"], "definition": "An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders. [HPO:sdoelken]", "canonical_name": "Camptocormia"} {"concept_id": "C0264169", "aliases": ["Ski jump nose", "Concave nasal ridge", "Boxer's nose deformity", "Saddle nose", "Concave nasal dorsum", "Boxer's nasal deformity", "Concave dorsum of nose", "Saddle shaped nasal dorsum"], "types": ["T033"], "definition": "Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. [HPO:probinson, PMID:19152422]", "canonical_name": "Saddle nose deformity"} {"concept_id": "C0264172", "aliases": ["Barrel chest"], "types": ["T033"], "definition": "A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. [HPO:probinson]", "canonical_name": "Barrel-shaped chest"} {"concept_id": "C0264267", "aliases": [], "types": ["T047"], "definition": "An open sore of the nasal mucosa. [PMID:11314863, PMID:25441476, PMID:26657735]", "canonical_name": "Nasal ulcer"} {"concept_id": "C0264272", "aliases": [], "types": ["T184"], "definition": "Chronic rhinitis accompanied by pus formation. []", "canonical_name": "Purulent rhinitis"} {"concept_id": "C0264303", "aliases": ["Softening of voice box tissue"], "types": ["T190"], "definition": "A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain.", "canonical_name": "Laryngomalacia"} {"concept_id": "C0264306", "aliases": [], "types": ["T046"], "definition": "Blockage of the laryngeal airway passage.", "canonical_name": "Laryngeal obstruction"} {"concept_id": "C0264324", "aliases": ["Tracheal ectopic calcification", "Tracheal calcifications", "Calcification of the trachea"], "types": ["T047"], "definition": "Abnormal deposits of calcium in the tracheal tissue.", "canonical_name": "Tracheal calcification"} {"concept_id": "C0264327", "aliases": [], "types": ["T047"], "canonical_name": "Tracheocele"} {"concept_id": "C0264353", "aliases": [], "types": ["T047"], "definition": "A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the BRONCHI. This results in a floppy bronchial wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing.", "canonical_name": "Bronchomalacia"} {"concept_id": "C0264361", "aliases": [], "types": ["T047"], "definition": "Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts. [LMU:crapp, PMID:18195376, PMID:3786716]", "canonical_name": "Traction bronchiectasis"} {"concept_id": "C0264362", "aliases": [], "types": ["T047"], "definition": "A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion. [PMID:18195376]", "canonical_name": "Bronchocele"} {"concept_id": "C0264363", "aliases": [], "types": ["T047"], "definition": "Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum. [ORCID:0000-0002-4095-8489, PMID:18544671, PMID:27867581]", "canonical_name": "Bronchial diverticula"} {"concept_id": "C0264372", "aliases": ["Bronchiolectasia"], "types": ["T047"], "definition": "Saccular dilatation of the terminal bronchioles. [ORCID:0000-0002-8169-9049, PMID:20037680]", "canonical_name": "Bronchiolectasis"} {"concept_id": "C0264383", "aliases": [], "types": ["T047"], "definition": "Any obstructive lung disease characterized by consolidated formation of GRANULATION TISSUE polyps within ALVEOLAR DUCTS AND ALVEOLI. It is classified as either primary (cryptogenic organizing pneumonia) or secondary organizing pneumonia. Secondary organizing pneumonia after transplantation is called bronchiolitis obliterans syndrome.", "canonical_name": "Organizing pneumonia"} {"concept_id": "C0264393", "aliases": [], "types": ["T047"], "definition": "Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis. [LMU:mgriese, PMID:1395384, PMID:18195376, PMID:8370825]", "canonical_name": "Panacinar emphysema"} {"concept_id": "C0264394", "aliases": [], "types": ["T047"], "definition": "Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae. [PMID:18195376]", "canonical_name": "Paraseptal emphysema"} {"concept_id": "C0264494", "aliases": ["Discoid atelectasis"], "types": ["T047"], "canonical_name": "Platelike atelectasis"} {"concept_id": "C0264495", "aliases": [], "types": ["T047"], "definition": "Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm. [PMID:18195376]", "canonical_name": "Linear atelectasis"} {"concept_id": "C0264510", "aliases": [], "types": ["T047"], "definition": "A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace. [LMU:kknoflach, PMID:20028911]", "canonical_name": "Endogenous lipoid pneumonia"} {"concept_id": "C0264511", "aliases": ["Lymphocytic interstitial pneumonitis", "Lymphoid interstitial pneumonitis", "Lymphoid interstitial pneumonia"], "types": ["T047"], "definition": "Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment.", "canonical_name": "Lymphocytic interstitial pneumonia"} {"concept_id": "C0264517", "aliases": [], "types": ["T047"], "definition": "Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components. [LMU:crapp]", "canonical_name": "Pulmonary necrosis"} {"concept_id": "C0264545", "aliases": ["Pleural thickening"], "types": ["T047"], "definition": "An increase in the thickness of the pleura, generally related to scarring of the pleural tissue. [PMID:23287997]", "canonical_name": "Pleural incrassation"} {"concept_id": "C0264611", "aliases": ["Apraxia of speech"], "types": ["T047"], "definition": "A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. [HPO:probinson]", "canonical_name": "Speech apraxia"} {"concept_id": "C0264716", "aliases": [], "types": ["T047"], "canonical_name": "Chronic heart failure"} {"concept_id": "C0264885", "aliases": [], "types": ["T047"], "definition": "Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view. [HPO:probinson, PMID:21143934]", "canonical_name": "Myxomatous mitral valve degeneration"} {"concept_id": "C0264906", "aliases": [], "types": ["T047"], "definition": "Intermittent failure of atrial electrical impulse conduction to the ventricles.", "canonical_name": "Second degree atrioventricular block"} {"concept_id": "C0264907", "aliases": ["Wenckebach block", "Mobitz type 1 atrioventricular block"], "types": ["T047"], "definition": "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)", "canonical_name": "Mobitz I atrioventricular block"} {"concept_id": "C0264912", "aliases": ["Left anterior fascicular block"], "types": ["T047"], "definition": "Conduction block in the anterior division of the left bundle branch of the bundle of His. [DDD:dbrown]", "canonical_name": "Left anterior hemiblock"} {"concept_id": "C0264913", "aliases": ["Left posterior hemiblock"], "types": ["T047"], "definition": "Conduction block in the posterior division of the left bundle branch of the bundle of His. [HPO:probinson]", "canonical_name": "Left posterior fascicular block"} {"concept_id": "C0264969", "aliases": ["Celiac artery aneurysm"], "types": ["T046"], "canonical_name": "Coeliac artery aneurysm"} {"concept_id": "C0264974", "aliases": [], "types": ["T047"], "canonical_name": "Superior mesenteric artery aneurysm"} {"concept_id": "C0264995", "aliases": [], "types": ["T046"], "definition": "Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart.", "canonical_name": "Arterial occlusion"} {"concept_id": "C0265004", "aliases": ["Aortic dilatation"], "types": ["T047"], "canonical_name": "Bulge in wall of large artery that carries blood away from heart"} {"concept_id": "C0265101", "aliases": ["Obstructed carotid artery"], "types": ["T047"], "definition": "Complete obstruction of a carotid artery. [ORCID:0000-0001-5208-3432]", "canonical_name": "Carotid artery occlusion"} {"concept_id": "C0265213", "aliases": [], "types": ["T047"], "definition": "An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. [HPO:probinson, PMID:8923935]", "canonical_name": "Distal arthrogryposis"} {"concept_id": "C0265290", "aliases": ["Metaphyseal dysostosis"], "types": ["T019"], "definition": "An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. [HPO:probinson, PMID:335375]", "canonical_name": "Metaphyseal chondrodysplasia"} {"concept_id": "C0265319", "aliases": ["Facial angiofibromas"], "types": ["T191"], "definition": "Facial ANGIOFIBROMA in tuberous sclerosis", "canonical_name": "Adenoma sebaceum"} {"concept_id": "C0265341", "aliases": [], "types": ["T047"], "definition": "A congenital condition associated with mutation(s) in the PITX2 and/or FOXC1 genes, encoding pituitary homeobox 2 and forkhead box protein C1, respectively. The condition is characterized by anterior segment dysgenesis of the eye(s), iris and corneal anomalies, glaucoma, craniofacial anomalies, hypodontia, and pituitary hypoplasia with hypopituitarism, and hypospadius.", "canonical_name": "Rieger anomaly"} {"concept_id": "C0265513", "aliases": [], "types": ["T019"], "definition": "A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. [HPO:sdoelken]", "canonical_name": "Osteopathia striata"} {"concept_id": "C0265529", "aliases": ["Plagiocephaly"], "types": ["T019"], "definition": "The condition characterized by uneven or irregular shape of the head often in parallelogram shape with a flat spot on the back or one side of the head. It can either result from the premature CRANIAL SUTURE closure (CRANIOSYNOSTOSIS) or from external forces (NONSYNOSTOTIC PLAGIOCEPHALY).", "canonical_name": "Flat head syndrome"} {"concept_id": "C0265534", "aliases": [], "types": ["T019"], "definition": "Premature fusion of the sagittal suture.", "canonical_name": "Scaphocephaly"} {"concept_id": "C0265535", "aliases": ["Wedge shaped skull", "Triangular skull shape", "Triangular cranium shape", "Trigonocephaly"], "types": ["T019"], "definition": "Premature fusion of the metopic suture.", "canonical_name": "Wedge shaped cranium"} {"concept_id": "C0265546", "aliases": [], "types": ["T019"], "definition": "Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis). [PMID:23814690]", "canonical_name": "Polymelia"} {"concept_id": "C0265549", "aliases": [], "types": ["T019"], "definition": "Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot. [UToronto:chum]", "canonical_name": "Meromelia"} {"concept_id": "C0265551", "aliases": ["Dimelia"], "types": ["T019"], "definition": "Congenital duplication of all or part of a limb. []", "canonical_name": "Limb duplication"} {"concept_id": "C0265552", "aliases": ["Finger overgrowth", "Megalodactyly"], "types": ["T019"], "definition": "A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.", "canonical_name": "Macrodactyly"} {"concept_id": "C0265554", "aliases": [], "types": ["T019"], "definition": "A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities.", "canonical_name": "Ectrodactyly"} {"concept_id": "C0265563", "aliases": ["Dislocated radial heads", "Radial head dislocation/subluxation", "Congenital radial head dislocation", "Radial head dislocation", "Radial dislocation", "Dislocation of the radial head", "Dislocated radius", "Dislocation of radial head"], "types": ["T019"], "definition": "A dislocation of the head of the radius from its socket in the elbow joint. [HPO:curators]", "canonical_name": "Dislocated radial head"} {"concept_id": "C0265565", "aliases": ["Congenital pseudoarthrosis of the clavicle", "Clavicle pseudoarthrosis"], "types": ["T019"], "definition": "The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle. [HPO:probinson, PMID:22295044]", "canonical_name": "Pseudoarthrosis of clavicle"} {"concept_id": "C0265573", "aliases": [], "types": ["T019"], "definition": "Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). [HPO:probinson]", "canonical_name": "Upper limb phocomelia"} {"concept_id": "C0265594", "aliases": ["Absent hand"], "types": ["T019"], "definition": "The total absence of the hand, with no bony elements distal to the radius or ulna. [PMID:19125433]", "canonical_name": "Acheiria"} {"concept_id": "C0265609", "aliases": ["Accessory carpal bones", "Supernumerary carpal bones"], "types": ["T019"], "definition": "The presence of more than the normal number of carpal bones. [HPO:curators]", "canonical_name": "Extra wrist bones"} {"concept_id": "C0265610", "aliases": [], "types": ["T019"], "canonical_name": "Finger clinodactyly"} {"concept_id": "C0265624", "aliases": ["Aplasia of the foot", "Absent foot"], "types": ["T019"], "definition": "The total absence of the foot, with no bony elements distal to the tibia or fibula. [PMID:19125433]", "canonical_name": "Apodia"} {"concept_id": "C0265625", "aliases": [], "types": ["T019"], "definition": "Phocomelia affecting only the lower limbs. [HPO:sdoelken]", "canonical_name": "Lower limb phocomelia"} {"concept_id": "C0265629", "aliases": ["Aplasia of the femur", "Femoral aplasia", "Absent femur"], "types": ["T019"], "definition": "Failure of the femur to develop. [HPO:probinson]", "canonical_name": "Absent thighbone"} {"concept_id": "C0265642", "aliases": [], "types": ["T019"], "definition": "A deformity of foot and ankle in which the foot is bent down and outwards. [HPO:probinson]", "canonical_name": "Talipes equinovalgus"} {"concept_id": "C0265646", "aliases": [], "types": ["T019"], "definition": "A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. [HPO:probinson]", "canonical_name": "Talipes calcaneovarus"} {"concept_id": "C0265654", "aliases": ["Tarsal synostosis", "Tarsal bone fusion", "Tarsal fusions", "Fused ankle bones", "Tarsal bone synostosis", "Tarsal fusion", "Synostosis involving tarsal bones"], "types": ["T019"], "definition": "Congenital, complete or partial fusion of the TARSAL BONES of the foot. PES PLANUS is usually a feature.", "canonical_name": "Synostosis of tarsal bones"} {"concept_id": "C0265660", "aliases": ["Fused toes", "Syndactyly of toes", "Webbed toes", "Syndactyly of feet", "Foot syndactyly"], "types": ["T019"], "definition": "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\".\" [HPO:curators]", "canonical_name": "Toe syndactyly"} {"concept_id": "C0265666", "aliases": [], "types": ["T019"], "definition": "A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood. [HPO:probinson]", "canonical_name": "Bipartite patella"} {"concept_id": "C0265669", "aliases": ["Congenital knee dislocation"], "types": ["T019"], "definition": "A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0\u00b0 associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. Larsen's syndrome, arthrogryposis multiplex congenita).", "canonical_name": "Dislocated knee since birth"} {"concept_id": "C0265677", "aliases": ["Hemivertebra", "Hemivertebrae", "Missing part of vertebrae"], "types": ["T019"], "definition": "A congenital abnormality characterized by incomplete development of one side of the vertebrae (arch and hemicentrum), resulting in spinal malformation.", "canonical_name": "Hemi-vertebrae"} {"concept_id": "C0265681", "aliases": [], "types": ["T019"], "canonical_name": "Supernumerary vertebrae"} {"concept_id": "C0265695", "aliases": ["Rib fusion"], "types": ["T019"], "definition": "Complete or partial merging of adjacent ribs. [HPO:probinson]", "canonical_name": "Fused ribs"} {"concept_id": "C0265699", "aliases": ["Morgagni hernia"], "types": ["T019"], "definition": "An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity. []", "canonical_name": "Morgagni diaphragmatic hernia"} {"concept_id": "C0265700", "aliases": ["Bochdalek hernia"], "types": ["T019"], "definition": "A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity. []", "canonical_name": "Posterolateral diaphragmatic hernia"} {"concept_id": "C0265706", "aliases": [], "types": ["T047"], "definition": "A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM.", "canonical_name": "Gastroschisis"} {"concept_id": "C0265736", "aliases": ["Abnormality of the nose", "Nasal abnormality", "Nasal anomaly"], "types": ["T019"], "definition": "An abnormality of the nose. [HPO:probinson]", "canonical_name": "Anomaly of the nose"} {"concept_id": "C0265740", "aliases": ["Nasal underdevelopment", "Underdevelopment of nose", "Aplasia of the nose", "Arrhinia", "Failure of development of nose"], "types": ["T019"], "definition": "Complete absence of all nasal structures. [HPO:probinson]", "canonical_name": "Absent nose"} {"concept_id": "C0265756", "aliases": [], "types": ["T019"], "definition": "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.", "canonical_name": "Laryngeal atresia"} {"concept_id": "C0265763", "aliases": [], "types": ["T019"], "canonical_name": "Congenital laryngeal stridor"} {"concept_id": "C0265766", "aliases": [], "types": ["T019"], "definition": "A rare, fatal congenital malformation in which the trachea is severely underdeveloped.", "canonical_name": "Tracheal atresia"} {"concept_id": "C0265776", "aliases": ["Congenital bronchial atresia"], "types": ["T019"], "definition": "A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. [UToronto:chum]", "canonical_name": "Bronchial atresia"} {"concept_id": "C0265783", "aliases": ["Small lung", "Underdeveloped lung", "Poorly developed lungs", "Hypoplastic lung", "Pulmonary hypoplasia", "Hypoplastic lungs"], "types": ["T019"], "definition": "A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.", "canonical_name": "Lung hypoplasia"} {"concept_id": "C0265792", "aliases": [], "types": ["T019"], "definition": "A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung. [PMID:19500772]", "canonical_name": "Bilobed right lung"} {"concept_id": "C0265797", "aliases": ["Congenital lobar overinflation"], "types": ["T019"], "definition": "A rare abnormality in the lungs that is present at birth. It is characterized by hyperinflation of one or more lobes of the lungs. Signs and symptoms appear early in life and include dyspnea, wheezing, and cyanosis.", "canonical_name": "Congenital lobar emphysema"} {"concept_id": "C0265809", "aliases": [], "types": ["T019"], "definition": "A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle. [HPO:probinson]", "canonical_name": "Double outlet left ventricle"} {"concept_id": "C0265812", "aliases": [], "types": ["T019"], "canonical_name": "Left ventricular - right atrial communication"} {"concept_id": "C0265831", "aliases": ["Absent pulmonary valve"], "types": ["T019"], "definition": "Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries. [DDD:dbrown]", "canonical_name": "Absence of the pulmonary valve"} {"concept_id": "C0265837", "aliases": ["Tricuspid valve hypoplasia", "Underdeveloped tricuspid valve"], "types": ["T019"], "definition": "Congenital defect characterized by underdevelopment of the tricuspid valve. [DDD:dbrown]", "canonical_name": "Hypoplastic tricuspid valve"} {"concept_id": "C0265843", "aliases": ["Aortic valve atresia"], "types": ["T019"], "definition": "A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.", "canonical_name": "Aortic atresia"} {"concept_id": "C0265856", "aliases": ["Hypoplastic right heart"], "types": ["T047"], "definition": "Underdevelopment of the right-sided structures of the heart. [HPO:probinson]", "canonical_name": "Underdeveloped right heart"} {"concept_id": "C0265857", "aliases": [], "types": ["T019"], "definition": "Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium. [PMID:10859296, PMID:16322929]", "canonical_name": "Uhl's anomaly"} {"concept_id": "C0265865", "aliases": [], "types": ["T019"], "definition": "Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. [DDD:dbrown, HPO:probinson]", "canonical_name": "Mesocardia"} {"concept_id": "C0265870", "aliases": [], "types": ["T019"], "definition": "A developmental defect in which the coronary sinus fails to form. [HPO:nvasilevsky, PMID:24551710]", "canonical_name": "Absent coronary sinus"} {"concept_id": "C0265878", "aliases": ["Proximal aortic coarctation"], "types": ["T019"], "definition": "Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch. [DDD:dbrown]", "canonical_name": "Preductal coarctation of the aorta"} {"concept_id": "C0265879", "aliases": ["Postductal coarctation of the aorta"], "types": ["T019"], "definition": "Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch. [DDD:dbrown]", "canonical_name": "Postductal aortic coarctation"} {"concept_id": "C0265881", "aliases": ["Hypoplastic aortic arch", "Underdeveloped aortic arch"], "types": ["T019"], "definition": "An underdeveloped aortic arch that is present at birth. This symptom is usually found in association with other cardiac defects that characterize left heart syndrome.", "canonical_name": "Aortic arch hypoplasia"} {"concept_id": "C0265882", "aliases": [], "types": ["T019"], "definition": "Significant luminal narrowing of a long segment of or the entire ascending aorta. [PMID:13938144]", "canonical_name": "Ascending aorta hypoplasia"} {"concept_id": "C0265883", "aliases": [], "types": ["T019"], "definition": "A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). [DDD:dbrown, HPO:probinson, PMID:15148283, PMID:15564538]", "canonical_name": "Double aortic arch"} {"concept_id": "C0265885", "aliases": ["Left aortic arch with retroesophageal diverticulum of Kommerell"], "types": ["T019"], "definition": "A patent ductus arteriosus or ductal ligament completes the ring. [DDD:dbrown]", "canonical_name": "Kommerell diverticulum"} {"concept_id": "C0265886", "aliases": ["Overriding aortic valve"], "types": ["T019"], "definition": "A congenital anatomic anomaly in which the aorta is positioned directly above a ventricular septal defect, thus receiving blood from both the right and left ventricles, resulting in an overall decrease In oxygenated haemoglobin and tissue cyanosis.", "canonical_name": "Overriding aorta"} {"concept_id": "C0265898", "aliases": ["Coronary artery fistula"], "types": ["T033"], "definition": "A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel. [DDD:dbrown, HPO:probinson, PMID:20513726]", "canonical_name": "Coronary fistula"} {"concept_id": "C0265900", "aliases": [], "types": ["T019"], "definition": "An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA). [PMID:27358682]", "canonical_name": "Anomalous origin of the left circumflex artery from the right coronary artery"} {"concept_id": "C0265905", "aliases": ["Missing pulmonary artery", "Absent pulmonary artery"], "types": ["T019"], "definition": "A congenital defect with aplasia (absence) of one of the right or left pulmonary artery. [HPO:probinson, PMID:17192541]", "canonical_name": "Absent lung artery"} {"concept_id": "C0265908", "aliases": ["Pulmonary artery atresia"], "types": ["T019"], "definition": "A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. [HPO:probinson]", "canonical_name": "Pulmonary atresia"} {"concept_id": "C0265910", "aliases": ["Underdeveloped pulmonary artery", "Pulmonary artery hypoplasia"], "types": ["T019"], "definition": "Underdevelopment of the pulmonary artery. [HPO:probinson]", "canonical_name": "Underdeveloped lung artery"} {"concept_id": "C0265914", "aliases": ["Abnormality of lung veins"], "types": ["T019"], "definition": "Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.", "canonical_name": "Abnormality of the pulmonary veins"} {"concept_id": "C0265931", "aliases": ["Persistent left superior vena cava"], "types": ["T019"], "definition": "Finding of the SUPERIOR VENA CAVA on the left instead of the usual right side of the ASCENDING AORTA. In bilateral superior vena cava it is found on both sides.", "canonical_name": "PLSVC"} {"concept_id": "C0265974", "aliases": [], "types": ["T019"], "definition": "Birthmarks are abnormalities of the skin that are present when a baby is born. There are two types of birthmarks. Vascular birthmarks are made up of blood vessels that haven't formed correctly. They are usually red. Two types of vascular birthmarks are hemangiomas and port-wine stains. Pigmented birthmarks are made of a cluster of pigment cells which cause color in skin. They can be many different colors, from tan to brown, gray to black, or even blue. Moles can be birthmarks.
No one knows what causes many types of birthmarks, but some run in families. Your baby's doctor will look at the birthmark to see if it needs any treatment or if it should be watched. Pigmented birthmarks aren't usually treated, except for moles. Treatment for vascular birthmarks includes laser surgery.
Most birthmarks are not serious, and some go away on their own. Some stay the same or get worse as you get older. Usually birthmarks are only a concern for your appearance. But certain types can increase your risk of skin cancer. If your birthmark bleeds, hurts, itches, or becomes infected, call your health care provider.
", "canonical_name": "Birthmark"} {"concept_id": "C0265979", "aliases": ["Fibrous hamartoma"], "types": ["T191"], "definition": "A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern.", "canonical_name": "Fibrous hamartoma of infancy"} {"concept_id": "C0265982", "aliases": ["Naevus anaemicus"], "types": ["T019"], "definition": "A capillary vascular anomaly that is characterized by hypopigmented macules.", "canonical_name": "Nevus anemicus"} {"concept_id": "C0265985", "aliases": ["Mongolian blue spot"], "types": ["T191"], "definition": "A bluish-gray to gray-brown benign, melanocytic nevus found usually in the LUMBOSACRAL REGION of dark-skinned people, especially those of East Asian ancestry. It is usually congenital or appears shortly after birth, and disappears in childhood.", "canonical_name": "Blue nevus"} {"concept_id": "C0265987", "aliases": [], "types": ["T191"], "definition": "A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.", "canonical_name": "Nevus comedonicus"} {"concept_id": "C0265989", "aliases": [], "types": ["T019"], "canonical_name": "Congenital scars"} {"concept_id": "C0265998", "aliases": ["Anonychia", "Absent nails"], "types": ["T019"], "definition": "Aplasia of the nail. [HPO:probinson]", "canonical_name": "Aplastic nails"} {"concept_id": "C0266003", "aliases": ["Subungual fibromas"], "types": ["T191"], "definition": "The presence of fibromata beneath finger or toenails. [HPO:curators]", "canonical_name": "Subungual fibroma"} {"concept_id": "C0266009", "aliases": ["Congenital absence of breast", "Absent breast", "Mammary gland aplasia"], "types": ["T019"], "definition": "Failure to develop and congenital absence of the breast. []", "canonical_name": "Breast aplasia"} {"concept_id": "C0266011", "aliases": ["Supernumerary nipple", "Accessory nipple", "accessory mamilla", "Supernumerary nipples", "Accessory nipples", "Increased nipple number"], "types": ["T019"], "definition": "Presence of more than two nipples. [HPO:probinson]", "canonical_name": "accessory mamillas"} {"concept_id": "C0266013", "aliases": ["Underdeveloped breasts"], "types": ["T019"], "definition": "Underdevelopment of the breast.", "canonical_name": "Breast hypoplasia"} {"concept_id": "C0266015", "aliases": [], "types": ["T019"], "definition": "Congenital structural abnormalities of the DIGESTIVE SYSTEM.", "canonical_name": "Abnormality of the digestive system"} {"concept_id": "C0266019", "aliases": ["Gastrointestinal duplication"], "types": ["T019"], "definition": "A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus. [HPO:probinson, PMID:21218094]", "canonical_name": "GI duplication"} {"concept_id": "C0266030", "aliases": ["Mesiodentes"], "types": ["T019"], "definition": "A supernumerary tooth in the midline between the maxillary central incisors. [HPO:ibailleulforestier, PMID:18262485, PMID:31468724]", "canonical_name": "Mesiodens"} {"concept_id": "C0266033", "aliases": ["Splitting of crown of tooth", "Gemination"], "types": ["T019"], "definition": "The development of two teeth from a single tooth bud, leading to a larger fused tooth. [PMID:18167487]", "canonical_name": "Gemination of tooth"} {"concept_id": "C0266034", "aliases": [], "types": ["T190"], "canonical_name": "Dens evaginatus"} {"concept_id": "C0266035", "aliases": [], "types": ["T019"], "definition": "Small nodules of enamel on the root of a tooth. [PMID:31468724]", "canonical_name": "Enamel pearls"} {"concept_id": "C0266036", "aliases": ["Tooth mass excess", "Megalodontia", "Macrodontia", "Large tooth", "Increased size of tooth"], "types": ["T033"], "definition": "Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. [HPO:ibailleulforestier, PMID:19125428]", "canonical_name": "Increased width of tooth"} {"concept_id": "C0266037", "aliases": ["Conical teeth", "Conical tooth", "Peg-shaped tooth", "Cone shaped tooth", "Peg shaped teeth", "Peg-shaped teeth", "Shark tooth", "Peg tooth", "Conoid tooth"], "types": ["T019"], "definition": "An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. [HPO:ibailleulforestier, PMID:31468724]", "canonical_name": "Peg shaped tooth"} {"concept_id": "C0266039", "aliases": ["Taurodont", "Taurodontism"], "types": ["T047"], "definition": "Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. [HPO:ibailleulforestier, PMID:31468724]", "canonical_name": "Taurodontia"} {"concept_id": "C0266043", "aliases": [], "types": ["T019"], "canonical_name": "Cementum aplasia"} {"concept_id": "C0266044", "aliases": [], "types": ["T019"], "definition": "The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth. [PMID:31468724]", "canonical_name": "Cementum hypoplasia"} {"concept_id": "C0266050", "aliases": ["Persistence of deciduous teeth", "Failure to exfoliate deciduous teeth", "Persistent primary teeth", "Persistence of primary teeth", "Retained primary teeth", "Delayed loss of baby teeth", "Failure to lose baby teeth", "Deciduous teeth retention", "Retained baby teeth", "Delayed loss of primary teeth", "Persistent deciduous dentition", "Delayed loss of deciduous teeth", "Persistent primary dentition", "Retained deciduous teeth"], "types": ["T047"], "definition": "Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. [HPO:ibailleulforestier]", "canonical_name": "Failure to exfoliate primary teeth"} {"concept_id": "C0266054", "aliases": ["Eruption, advanced", "Advanced eruption of teeth", "Advanced dental eruption", "Premature eruption of teeth", "Premature dental eruption", "Early eruption of teeth", "Premature tooth eruption", "Early dental eruption"], "types": ["T033"], "definition": "Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. [HPO:ibailleulforestier, PMID:19125428]", "canonical_name": "Advanced tooth eruption"} {"concept_id": "C0266060", "aliases": ["Absence of overlap of anterior upper and lower teeth", "Anterior openbite", "Apertognathia malocclusion", "Anterior open-bite malocclusion", "Anterior open bite", "Gap between upper and lower front teeth when biting", "Anterior open bite between upper and lower teeth"], "types": ["T033"], "definition": "Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion. [HPO:ibailleulforestier, PMID:27615261]", "canonical_name": "AOB"} {"concept_id": "C0266061", "aliases": ["Absence of overlap of upper and lower teeth", "Open bite between upper and lower teeth"], "types": ["T019"], "definition": "A condition in which certain opposing teeth fail to establish occlusal contact when the jaws are closed.", "canonical_name": "Open bite"} {"concept_id": "C0266063", "aliases": ["Increased overbite", "Supraocclusion", "Deep bite", "Overbite", "Increased overlap of upper and lower incisors"], "types": ["T047"], "definition": "Increased superior-inferior overlap of the maxillary central incisors over the mandibular central incisors relative to the incisal ridges.", "canonical_name": "Deep overbite"} {"concept_id": "C0266067", "aliases": [], "types": ["T019"], "canonical_name": "Scissors bite"} {"concept_id": "C0266081", "aliases": [], "types": ["T019"], "canonical_name": "Maxillary macrognathia"} {"concept_id": "C0266111", "aliases": ["Bilobed tongue", "Bifid tongue", "Bifurcated tongue"], "types": ["T019"], "definition": "Tongue with a median apical indentation or fork. [PMID:19125428]", "canonical_name": "Split tongue"} {"concept_id": "C0266121", "aliases": ["Uvula aplasia", "Congenital absence of uvula", "Agenesis of uvula", "Missing uvula", "Absent palatine uvula"], "types": ["T019"], "definition": "Lack of the uvula. [PMID:19125428]", "canonical_name": "Absent uvula"} {"concept_id": "C0266126", "aliases": ["Abnormal oesophagus morphology", "Anomaly of the oesophagus", "Anomaly of the esophagus", "Abnormal esophagus morphology", "Abnormality of esophagus structure"], "types": ["T019"], "definition": "A structural abnormality of the esophagus. [HPO:probinson]", "canonical_name": "Abnormality of oesophagus structure"} {"concept_id": "C0266135", "aliases": [], "types": ["T019"], "definition": "A congenital abnormality characterized by the presence of a duplicated segment of the esophagus. The duplicated segment may by tubular or cystic.", "canonical_name": "Esophageal duplication"} {"concept_id": "C0266150", "aliases": [], "types": ["T019"], "definition": "A developmental anomaly wtih a small tubular or saccular midline stomach. [PMID:10067744]", "canonical_name": "Microgastria"} {"concept_id": "C0266166", "aliases": ["Bowel duplication"], "types": ["T019"], "definition": "A rare congenital abnormality characterized by the presence of a duplicated segment of the intestine. The duplicated segment is cystic.", "canonical_name": "Intestinal duplication"} {"concept_id": "C0266174", "aliases": ["Duodenal atresia"], "types": ["T019"], "definition": "A congenital malformation characterized by the absence of a normal opening in a part of the duodenum.", "canonical_name": "Absence or narrowing of first part of small bowel"} {"concept_id": "C0266175", "aliases": [], "types": ["T019"], "definition": "A congenital malformation characterized by the absence of a normal opening in a part of the jejunum.", "canonical_name": "Jejunal atresia"} {"concept_id": "C0266176", "aliases": [], "types": ["T019"], "definition": "A congenital malformation characterized by the absence of a normal opening in a part of the ileum.", "canonical_name": "Ileal atresia"} {"concept_id": "C0266177", "aliases": [], "types": ["T019"], "definition": "Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum. []", "canonical_name": "Megaduodenum"} {"concept_id": "C0266190", "aliases": ["Colonic atresia", "Atresia of the large intestine"], "types": ["T019"], "definition": "A congenital malformation characterized by the absence of a normal opening in a part of the colon.", "canonical_name": "Large intestinal atresia"} {"concept_id": "C0266196", "aliases": [], "types": ["T019"], "definition": "An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. [HPO:probinson]", "canonical_name": "Malrotation of colon"} {"concept_id": "C0266200", "aliases": [], "types": ["T019"], "definition": "A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development.", "canonical_name": "Microcolon"} {"concept_id": "C0266225", "aliases": ["Cloacogenic bladder"], "types": ["T019"], "definition": "A congenital abnormality in which the rectum, vagina, and urethra fuse and form a common channel.", "canonical_name": "Persistent cloaca"} {"concept_id": "C0266231", "aliases": ["Anus malposition", "Ectopic anus"], "types": ["T019"], "definition": "Abnormal displacement or malposition of the anus. [HPO:probinson]", "canonical_name": "Abnormal anus position"} {"concept_id": "C0266249", "aliases": ["Anomaly of the gallbladder"], "types": ["T019"], "definition": "An abnormality of the gallbladder. [HPO:probinson]", "canonical_name": "Abnormality of the gallbladder"} {"concept_id": "C0266251", "aliases": ["Absent gallbladder", "Aplasia of the gallbladder"], "types": ["T019"], "definition": "A developmental defect in which the gallbladder fails to form. [DDD:hfirth]", "canonical_name": "Agenesis of the gallbladder"} {"concept_id": "C0266258", "aliases": ["Hepatic agenesis", "Failed liver development"], "types": ["T019"], "definition": "Absence of the liver owing to a failure of the liver to develop. [HPO:probinson]", "canonical_name": "Liver agenesis"} {"concept_id": "C0266267", "aliases": ["Underdeveloped pancreas", "Pancreatic hypoplasia"], "types": ["T019"], "definition": "Hypoplasia of the pancreas. [HPO:probinson]", "canonical_name": "Hypoplastic pancreas"} {"concept_id": "C0266270", "aliases": [], "types": ["T019"], "definition": "Anatomic variants in PANCREATIC DUCTS characterized by failure of fusion of the ventral and dorsal endodermal buds. Pancreas divisum results in inadequate or no communication between dorsal and ventral ducts. While most cases are asymptomatic, it may be associated with recurrent PANCREATITIS.", "canonical_name": "Pancreas divisum"} {"concept_id": "C0266273", "aliases": [], "types": ["T019"], "definition": "Absent development of the adrenal gland. [DDD:spark]", "canonical_name": "Adrenal gland agenesis"} {"concept_id": "C0266275", "aliases": ["Abnormal adrenal gland position"], "types": ["T019"], "definition": "Abnormal anatomical location of the adrenal gland. [DDD:spark]", "canonical_name": "Ectopic adrenal gland"} {"concept_id": "C0266283", "aliases": ["Abnormal thryoid location", "Ectopic thyroid gland", "Heteropic thyroid gland"], "types": ["T019"], "definition": "Location of the thyroid gland somewhere other than at the base of the neck.", "canonical_name": "Ectopic thyroid"} {"concept_id": "C0266284", "aliases": [], "types": ["T019"], "definition": "A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM.", "canonical_name": "Lingual thyroid"} {"concept_id": "C0266292", "aliases": ["Abnormal kidney", "Renal anomalies", "Renal anomaly"], "types": ["T019"], "definition": "An abnormality of the kidney. [HPO:probinson]", "canonical_name": "Abnormality of the kidney"} {"concept_id": "C0266294", "aliases": ["Unilateral renal agenesis", "Absent kidney on one side", "Missing one kidney"], "types": ["T019"], "definition": "A congenital abnormality characterized by the presence of only one kidney.", "canonical_name": "Unilateral kidney agenesis"} {"concept_id": "C0266295", "aliases": ["Hypoplastic kidneys", "Small kidneys", "Hypoplastic kidney", "Underdeveloped kidneys"], "types": ["T019"], "definition": "Hypoplasia of the kidney. [HPO:probinson]", "canonical_name": "Renal hypoplasia"} {"concept_id": "C0266298", "aliases": ["Supernumerary kidney", "Renal duplication"], "types": ["T019"], "definition": "A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. [HPO:probinson]", "canonical_name": "Extra kidney"} {"concept_id": "C0266305", "aliases": [], "types": ["T019"], "definition": "Congenital fusion of two kidneys.", "canonical_name": "Fused kidneys"} {"concept_id": "C0266313", "aliases": ["Renotubular dysgenesis"], "types": ["T047"], "definition": "A developmental defect characterized by absence or poor development of proximal renal tubules. [HPO:probinson]", "canonical_name": "Renal tubular dysgenesis"} {"concept_id": "C0266320", "aliases": [], "types": ["T019"], "definition": "A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter. [HPO:probinson]", "canonical_name": "Ureteral atresia"} {"concept_id": "C0266324", "aliases": ["Congenital megaloureter"], "types": ["T019"], "definition": "A developmental disturbance with extreme ureteral dilatation. [HPO:probinson]", "canonical_name": "Congenital megaureter"} {"concept_id": "C0266345", "aliases": [], "types": ["T019"], "definition": "The presence of an abnormal membrane obstructing the urethra. [HPO:probinson]", "canonical_name": "Urethral valve"} {"concept_id": "C0266357", "aliases": ["Persistent urachus"], "types": ["T019"], "definition": "A congenital abnormality that results from the failure of the lumen of urachus to be obliterated. It presents with leakage of urine from the bladder through the umbilicus.", "canonical_name": "Patent urachus"} {"concept_id": "C0266361", "aliases": ["True hermaphroditism"], "types": ["T047"], "definition": "A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia.", "canonical_name": "Testicular and ovarian tissue present"} {"concept_id": "C0266362", "aliases": ["Intersex genitalia", "Ambiguous external genitalia", "Ambiguous external genitalia at birth"], "types": ["T019"], "definition": "A rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia.", "canonical_name": "Ambiguous genitalia"} {"concept_id": "C0266368", "aliases": ["Aplasia of the ovaries", "Absent ovary"], "types": ["T019"], "definition": "Aplasia, that is failure to develop, of the ovary. [HPO:probinson]", "canonical_name": "Aplasia of the ovary"} {"concept_id": "C0266370", "aliases": ["Ectopic ovary"], "types": ["T019"], "definition": "Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels. [PMID:12584384]", "canonical_name": "Undescended ovary"} {"concept_id": "C0266371", "aliases": [], "types": ["T019"], "definition": "A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. [HPO:probinson]", "canonical_name": "Streak ovary"} {"concept_id": "C0266375", "aliases": ["Fallopian tube duplication"], "types": ["T019"], "definition": "The presence of a supernumerary Fallopian tube. [HPO:probinson, PMID:23532389]", "canonical_name": "Accessory fallopian tube"} {"concept_id": "C0266383", "aliases": ["Uterine abnormalities", "Abnormality of the uterus"], "types": ["T019"], "definition": "An abnormality of the uterus. [HPO:probinson]", "canonical_name": "Uterine malformations"} {"concept_id": "C0266387", "aliases": ["Heart-shaped uterus", "Bicornuate uterus", "Uterus bicornis"], "types": ["T019"], "definition": "A congenital uterine anomaly in which the UTERUS is divided into two uterine horns with a significant cleft at the uterine fundus due to partial fusion of the MULLERIAN DUCTS. Bicornuate uterus is sometimes associated with a longitudinal vaginal septum and abnormal development of renal tracts.", "canonical_name": "Heart shaped uterus"} {"concept_id": "C0266389", "aliases": [], "types": ["T019"], "definition": "A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn. [PMID:28811816]", "canonical_name": "Unicornuate uterus"} {"concept_id": "C0266393", "aliases": [], "types": ["T019"], "definition": "An abnormality in which the MULLARIAN DUCTS do not properly join to form a single uterus during embryological development instead resulting in complete duplication of uterine horns and duplication of the cervix. Double uterus is associated with double cervix and vagina and sometimes renal agenesis.", "canonical_name": "Uterus didelphys"} {"concept_id": "C0266399", "aliases": ["Underdeveloped uterus", "Small uterus", "Hypoplasia of the uterus", "Rudimentary uterus"], "types": ["T019"], "definition": "Underdevelopment of the uterus. [HPO:probinson]", "canonical_name": "Hypoplastic uterus"} {"concept_id": "C0266404", "aliases": ["Cervical aplasia", "Aplasia of the cervix", "Absent cervix"], "types": ["T019"], "definition": "Congenital absence of the cervix. []", "canonical_name": "Cervical agenesis"} {"concept_id": "C0266411", "aliases": ["Double vagina"], "types": ["T019"], "definition": "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. [HPO:curators]", "canonical_name": "Septate vagina"} {"concept_id": "C0266419", "aliases": ["Labial adhesion", "Synechia vulvae"], "types": ["T019"], "definition": "Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline. [PMID:17364294, PMID:29262197]", "canonical_name": "Labial agglutination"} {"concept_id": "C0266427", "aliases": ["Vanishing testis"], "types": ["T047"], "definition": "A condition characterized by typical male genital appearance in a 46,XY individual in whom testes are unable to be located.", "canonical_name": "Testicular regression syndrome"} {"concept_id": "C0266429", "aliases": ["Monorchism"], "types": ["T019"], "definition": "Having only one testis in the scrotum. [HPO:probinson]", "canonical_name": "Monorchidism"} {"concept_id": "C0266430", "aliases": ["Supernumerary testes", "Extra testes"], "types": ["T019"], "definition": "The presence of more than two testes. [HPO:probinson]", "canonical_name": "Polyorchidism"} {"concept_id": "C0266435", "aliases": ["Underdeveloped penis"], "types": ["T019"], "canonical_name": "Hypoplasia of penis"} {"concept_id": "C0266444", "aliases": ["Absent deferent duct", "Congenital absence of the vas deferens", "Absent vas deferens"], "types": ["T019"], "definition": "Aplasia (congenital absence) of the vas deferens. [HPO:probinson]", "canonical_name": "Absent ductus deferens"} {"concept_id": "C0266445", "aliases": ["Atretic vas deferens", "Atresia of the vas deferens"], "types": ["T019"], "definition": "Abnormal closure or blockage of the vas deferens. []", "canonical_name": "Vas deferens atresia"} {"concept_id": "C0266453", "aliases": [], "types": ["T019"], "definition": "A congenital abnormality characterized by the extrusion of the brain outside of the skull.", "canonical_name": "Exencephaly"} {"concept_id": "C0266456", "aliases": [], "types": ["T019"], "definition": "A congenital neural tube closure defect resulting in the protrusion of the brain and meninges through a skull opening.", "canonical_name": "Meningoencephalocele"} {"concept_id": "C0266463", "aliases": ["Lissencephaly"], "types": ["T019"], "definition": "A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.", "canonical_name": "Fewer or absent grooves in brain"} {"concept_id": "C0266464", "aliases": ["Polymicrogyria"], "types": ["T019"], "definition": "Heterogeneous disorders of cortical malformation characterized by excessive and small fused gyri and shallow sulci of the CORTEX with abnormal cortical lamination. It is considered a malformation secondary to abnormal post-migrational development of the neurons during cerebral cortical development and is associated with EPILEPSY and learning difficulties.", "canonical_name": "More grooves in brain"} {"concept_id": "C0266470", "aliases": ["Hypoplasia of cerebellum", "Congenital cerebellar hypoplasia", "Hypoplastic cerebellum", "Small cerebellum", "Underdeveloped cerebellum"], "types": ["T019"], "definition": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.", "canonical_name": "Cerebellar hypoplasia"} {"concept_id": "C0266481", "aliases": [], "types": ["T019"], "definition": "Colloid cysts i.e. cysts filled with gelatinous material, in the central nervous system often are found in the third ventricle. Due to their location, chronic or intermittent hydrocephalus can result. Case reports of sudden death due to acute obstructive hydrocephalus are in the literature. Colloid cysts are benign lesions that should be considered for neurosurgical resection.", "canonical_name": "Third ventricle colloid cyst"} {"concept_id": "C0266483", "aliases": ["Cerebral pachygyria", "Macrogyria", "Fewer and broader ridges in brain"], "types": ["T019"], "definition": "Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. [COST:neuromig, HPO:probinson, PMID:22427329]", "canonical_name": "Pachygyria"} {"concept_id": "C0266484", "aliases": [], "types": ["T019"], "definition": "A rare developmental abnormality characterized by the presence of clefs in the cerebral hemispheres. The abnormality may involve one or both cerebral hemispheres. Signs and symptoms include developmental delays, mental retardation, paralysis, presence of a small head, and seizures.", "canonical_name": "Schizencephaly"} {"concept_id": "C0266491", "aliases": ["Gray matter heterotopias", "Grey matter heterotopia", "Heterotopia", "Grey matter heterotopias", "Neuronal heterotopia"], "types": ["T047"], "definition": "The presence of neuronal cells in an atypical anatomic site.", "canonical_name": "Gray matter heterotopia"} {"concept_id": "C0266501", "aliases": [], "types": ["T019"], "canonical_name": "Cervical spina bifida"} {"concept_id": "C0266507", "aliases": [], "types": ["T019"], "definition": "The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane. [PMID:20885122, UToronto:chum]", "canonical_name": "Myeloschisis"} {"concept_id": "C0266510", "aliases": ["Amyelia"], "types": ["T019"], "definition": "Congenital absence of the spinal cord. [HPO:sdoelken]", "canonical_name": "Absent spinal cord"} {"concept_id": "C0266521", "aliases": ["Marcus Gunn jaw winking synkinesis", "Marcus Gunn jaw-winking syndrome", "Trigemino-oculomotor synkinesis"], "types": ["T047"], "definition": "Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. [PMID:23345532, PMID:25754805]", "canonical_name": "Pterygoid-levator synkinesis"} {"concept_id": "C0266537", "aliases": [], "types": ["T019"], "definition": "A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. [HPO:probinson]", "canonical_name": "Lamellar cataract"} {"concept_id": "C0266541", "aliases": ["Microphakia"], "types": ["T019"], "definition": "Abnormal smallness of the lens. [HPO:probinson]", "canonical_name": "Small lens"} {"concept_id": "C0266544", "aliases": ["Cornea of eye less than 10mm in diameter"], "types": ["T019"], "definition": "A congenital abnormality characterized by an abnormally small cornea. The horizontal corneal diameter is less than 10mm or less than 9mm in newborns. It is associated with an increased risk of glaucoma.", "canonical_name": "Microcornea"} {"concept_id": "C0266548", "aliases": [], "types": ["T019"], "definition": "Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. [HPO:probinson]", "canonical_name": "Axenfeld anomaly"} {"concept_id": "C0266568", "aliases": ["Congenital retinal septum", "Persistent hyperplastic primary vitreous", "Persistent tunica vasculosa lentis", "Persistent hyperplasia of primary vitreous", "Persistent posterior foetal fibrovascular sheath of the lens", "Remnants of the hyaloid vascular system", "Persistent hypertrophic primary vitreous", "Persistent posterior fetal fibrovascular sheath of the lens", "Persistent foetal vasculature"], "types": ["T019"], "definition": "A developmental ocular anomaly in which the primary VITREOUS BODY and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by CATARACT; MICROPHTHALMOS (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)", "canonical_name": "Persistent fetal vasculature"} {"concept_id": "C0266573", "aliases": ["Congenital ptosis"], "types": ["T019"], "definition": "The drooping of the upper or lower eyelid that is present at the time of birth.", "canonical_name": "Congenital drooping upper eyelid"} {"concept_id": "C0266574", "aliases": ["Ablepharon", "Ablepharon of eyelid", "Absent eyelids", "Missing eyelids"], "types": ["T019"], "definition": "A finding in which the eye appears open at birth, either due to the congenital absence of eyelids or incomplete fusion of the eyelid.", "canonical_name": "Agenesis of eyelids"} {"concept_id": "C0266576", "aliases": ["Accessory eyelid"], "types": ["T019"], "definition": "The presence of more than the normal number of eyelids. [GOC:MG]", "canonical_name": "Extra eyelid"} {"concept_id": "C0266589", "aliases": ["Ear anomalies", "Abnormality of the ear"], "types": ["T019"], "definition": "An abnormality of the ear. [HPO:probinson]", "canonical_name": "Ear anomaly"} {"concept_id": "C0266597", "aliases": ["Atretic external auditory canals", "Atresia of the external auditory canals", "External auditory canal atresia", "Atresia of the external auditory canal", "External acoustic meatus atresia", "Atretic external auditory canal", "External auditory meatus atresia"], "types": ["T019"], "definition": "Absence or failure to form of the external auditory canal. [HPO:probinson]", "canonical_name": "External auditory meatal atresia"} {"concept_id": "C0266604", "aliases": ["Absent inner ear", "Labyrinthine aplasia", "Michel deformity", "Aplasia of the inner ear"], "types": ["T019"], "definition": "Absence of the inner ear due to a developmental defect. [DDD:dfitzpatrick]", "canonical_name": "Aplasia of the labyrinth"} {"concept_id": "C0266609", "aliases": ["Extra cartilage in front of the ear", "Accessory Tragus", "Pretragal Duplication"], "types": ["T019"], "definition": "Variably shaped, cartilage-containing tissue anterior to the external auditory meatus. [eom:095679c21044c851]", "canonical_name": "Pretragal ectopia"} {"concept_id": "C0266610", "aliases": ["Preauricular pit", "Pit in front of the ear", "Ear pit", "Preauricular earpits"], "types": ["T019"], "definition": "Small indentation anterior to the insertion of the ear. [HPO:sdoelken, PMID:19152421]", "canonical_name": "Preauricular pits"} {"concept_id": "C0266611", "aliases": [], "types": ["T019"], "definition": "The presence of an extra auricle on one or both sides of the head. [HPO:sdoelken]", "canonical_name": "Polyotia"} {"concept_id": "C0266614", "aliases": [], "types": ["T019"], "definition": "Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. [HPO:probinson, PMID:19152421]", "canonical_name": "Lop ear"} {"concept_id": "C0266616", "aliases": ["Absent eustachian tube"], "types": ["T019"], "canonical_name": "Aplasia of the Eustachian tube"} {"concept_id": "C0266617", "aliases": ["Anomaly of the face"], "types": ["T019"], "canonical_name": "Malformation of face"} {"concept_id": "C0266619", "aliases": [], "types": ["T019"], "definition": "A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. [HPO:probinson]", "canonical_name": "Potter facies"} {"concept_id": "C0266623", "aliases": ["Anomaly of the neck"], "types": ["T019"], "definition": "An abnormality of the neck. [HPO:probinson]", "canonical_name": "Abnormality of the neck"} {"concept_id": "C0266624", "aliases": ["Branchial cleft sinus"], "types": ["T019"], "definition": "A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal. [HPO:sdoelken]", "canonical_name": "Branchial sinus"} {"concept_id": "C0266625", "aliases": [], "types": ["T019"], "canonical_name": "Preauricular sinus"} {"concept_id": "C0266631", "aliases": [], "types": ["T019"], "definition": "Homogeneous organ, each instance of which is a connected or detached part or enclave of some spleen.", "canonical_name": "Accessory spleen"} {"concept_id": "C0266632", "aliases": ["Ectopic spleen", "Ectopia of the spleen"], "types": ["T019"], "definition": "An abnormal (non-anatomic) location of the spleen. [HPO:curators]", "canonical_name": "Abnormal spleen location"} {"concept_id": "C0266636", "aliases": [], "types": ["T019"], "definition": "Joining of the spleen and a gonad during embryological development. [PMID:24137272]", "canonical_name": "Splenogonadal fusion"} {"concept_id": "C0266642", "aliases": ["Heterotaxy"], "types": ["T019"], "definition": "The abnormal arrangement or position of thoracic and/or abdominal organs in relation to each other, often occurring in a right/left transposition.", "canonical_name": "Heterotaxia"} {"concept_id": "C0266667", "aliases": ["Cyclops eye", "Single central eye"], "types": ["T019"], "definition": "The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.", "canonical_name": "Cyclopia"} {"concept_id": "C0266677", "aliases": [], "types": ["T019"], "definition": "A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. [HPO:sdoelken]", "canonical_name": "Synotia"} {"concept_id": "C0266680", "aliases": [], "types": ["T019"], "definition": "A congenital abnormality characterized by the presence of holoprosencephaly, a proboscis, the absence of a nose and microphthalmic, close-set eyes.", "canonical_name": "Ethmocephaly"} {"concept_id": "C0266682", "aliases": ["Celosomia", "Thoracoabdominal eventration"], "types": ["T019"], "definition": "Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls. [HPO:sdoelken]", "canonical_name": "Kelosomia"} {"concept_id": "C0266725", "aliases": [], "types": ["T191"], "definition": "Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate. [PMID:19240824, UToronto:chum]", "canonical_name": "Epignathus"} {"concept_id": "C0266765", "aliases": [], "types": ["T046"], "definition": "Histologically-confirmed deep attachment of the placenta into the myometrium that does not cross the serosa.", "canonical_name": "Placenta increta"} {"concept_id": "C0266766", "aliases": ["Abnormal placental pentration beyond the uterine wall"], "types": ["T046"], "definition": "Histologically-confirmed deep attachment of the placenta into the myometrium and serosa. It may further extend into an adjacent organ such as the bladder.", "canonical_name": "Placenta percreta"} {"concept_id": "C0266781", "aliases": ["Abnormality of the amniotic fluid"], "types": ["T033"], "definition": "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. [HPO:curators]", "canonical_name": "Abnormal amniotic fluid"} {"concept_id": "C0266785", "aliases": ["Umbilical cord issue"], "types": ["T190"], "definition": "An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta. [HPO:probinson]", "canonical_name": "Abnormality of the umbilical cord"} {"concept_id": "C0266786", "aliases": [], "types": ["T033"], "definition": "An umbilical cord at term that is less than 35 cm in length.", "canonical_name": "Short umbilical cord"} {"concept_id": "C0266788", "aliases": ["Marginal cord insertion", "Marginal umbilical cord insertion"], "types": ["T033"], "definition": "The location of the umbilical cord insertion at the disc edge.", "canonical_name": "Battledore placenta"} {"concept_id": "C0266789", "aliases": [], "types": ["T047"], "definition": "The location of the umbilical cord insertion on the extraplacental membranes.", "canonical_name": "Velamentous cord insertion"} {"concept_id": "C0266941", "aliases": [], "types": ["T190"], "canonical_name": "Derangement of the temporomandibular joint"} {"concept_id": "C0266981", "aliases": ["Palate exostoses", "Torus palatinus", "Palatal tori"], "types": ["T033"], "definition": "A bony protrusion present on the midline of the hard palate. [HPO:sdoelken]", "canonical_name": "Palatal torus"} {"concept_id": "C0267008", "aliases": ["Oral erythroplasia"], "types": ["T047"], "definition": "A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed. []", "canonical_name": "Oral erythroplakia"} {"concept_id": "C0267043", "aliases": [], "types": ["T047"], "canonical_name": "Raspberry tongue"} {"concept_id": "C0267048", "aliases": ["Retraction of the tongue", "Glossoptosis"], "types": ["T047"], "definition": "Posterior displacement of the TONGUE toward the PHARYNX. It is often a feature in syndromes such as in PIERRE ROBIN SYNDROME and DOWN SYNDROME and associated with AIRWAY OBSTRUCTION during sleep (OBSTRUCTIVE SLEEP APNEAS).", "canonical_name": "Lingual retraction"} {"concept_id": "C0267071", "aliases": ["Oral-pharyngeal dysphagia", "Oral pharyngeal dysphagia"], "types": ["T047"], "definition": "Difficulty in swallowing due to an abnormality in the mouth or throat.", "canonical_name": "Oropharyngeal dysphagia"} {"concept_id": "C0267080", "aliases": [], "types": ["T190"], "definition": "A thin membrane that is present in the esophageal lumen. It is composed of mucosa and submucosa and it may be associated with Plummer-Vinson syndrome.", "canonical_name": "Esophageal web"} {"concept_id": "C0267095", "aliases": ["Esophageal leukoplakia"], "types": ["T191"], "definition": "A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma.", "canonical_name": "Esophageal epidermoid metaplasia"} {"concept_id": "C0267154", "aliases": ["Eosinophilic infiltration in the stomach mucosa"], "types": ["T047"], "definition": "Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia. [orcid.org/0000-0001-5208-3432, PMID:23904840]", "canonical_name": "Eosinophilic gastritis"} {"concept_id": "C0267373", "aliases": ["Intestinal bleeding", "Intestinal hemorrhage"], "types": ["T046"], "definition": "Bleeding from the intestines. [DDD:akelly]", "canonical_name": "Intestinal haemorrhage"} {"concept_id": "C0267375", "aliases": [], "types": ["T047"], "definition": "A chronic inflammatory disease of the large intestine (colon, cecum and rectum). [HPO:sdoelken]", "canonical_name": "Chronic colitis"} {"concept_id": "C0267412", "aliases": ["Mesenteric venous thrombosis"], "types": ["T046"], "definition": "A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine). []", "canonical_name": "Blood clot in mesentertic vein"} {"concept_id": "C0267448", "aliases": ["Eosinophilic infiltration in the colon", "Colonic eosinophilia"], "types": ["T047"], "definition": "Inflammation of the colon that is characterized by eosinic infiltration.", "canonical_name": "Eosinophilic colitis"} {"concept_id": "C0267456", "aliases": [], "types": ["T047"], "canonical_name": "Atrophy of small intestinal villi"} {"concept_id": "C0267466", "aliases": ["Narrowing of the colon", "Colonic stenosis"], "types": ["T047"], "definition": "Narrowing of the lumen of colon.", "canonical_name": "Stenosis of the colon"} {"concept_id": "C0267491", "aliases": [], "types": ["T047"], "definition": "A circumscribed inflammatory and necrotic erosive lesion in the mucosa surface of the colon.", "canonical_name": "Colon ulcer"} {"concept_id": "C0267498", "aliases": [], "types": ["T047"], "canonical_name": "Small bowel diverticula"} {"concept_id": "C0267556", "aliases": [], "types": ["T047"], "definition": "Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption. [PMID:22677080]", "canonical_name": "Osmotic diarrhea"} {"concept_id": "C0267557", "aliases": ["Secretory diarrhoea"], "types": ["T047"], "definition": "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. [HPO:probinson]", "canonical_name": "Secretory diarrhea"} {"concept_id": "C0267561", "aliases": [], "types": ["T190"], "canonical_name": "Perianal fistula"} {"concept_id": "C0267566", "aliases": [], "types": ["T046"], "canonical_name": "Perirectal abscess"} {"concept_id": "C0267567", "aliases": [], "types": ["T047"], "definition": "An abscess located at the junction of the anal canal and the rectum. []", "canonical_name": "Anorectal abscess"} {"concept_id": "C0267716", "aliases": [], "types": ["T046"], "definition": "Protrusion of tissue at or near the site of an incision from a previous surgery.", "canonical_name": "Incisional hernia"} {"concept_id": "C0267756", "aliases": [], "types": ["T047"], "definition": "The presence of an abscess of the peritoneum. [HPO:probinson]", "canonical_name": "Peritoneal abscess"} {"concept_id": "C0267797", "aliases": ["Acute liver inflammation"], "types": ["T047"], "definition": "Acute inflammation of the liver.", "canonical_name": "Acute hepatitis"} {"concept_id": "C0267812", "aliases": [], "types": ["T047"], "definition": "A type of cirrhosis characterized by the presence of small regenerative nodules. [HPO:probinson]", "canonical_name": "Micronodular cirrhosis"} {"concept_id": "C0267818", "aliases": ["Proliferation of bile canaliculi"], "types": ["T047"], "definition": "Proliferative changes of the bile ducts. [HPO:probinson]", "canonical_name": "Bile duct proliferation"} {"concept_id": "C0267834", "aliases": ["Liver cysts"], "types": ["T047"], "definition": "A cystic lesion located in the liver.", "canonical_name": "Hepatic cysts"} {"concept_id": "C0267839", "aliases": [], "types": ["T047"], "definition": "A form of amyloidosis that affects the liver. [HPO:probinson]", "canonical_name": "Hepatic amyloidosis"} {"concept_id": "C0267924", "aliases": [], "types": ["T047"], "definition": "Cholangitis that is characterized by pyogenic organisms.", "canonical_name": "Suppurative cholangitis"} {"concept_id": "C0267952", "aliases": [], "types": ["T047"], "canonical_name": "Pancreatic fibrosis"} {"concept_id": "C0267963", "aliases": ["Exocrine pancreatic insufficiency"], "types": ["T047"], "definition": "Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders.", "canonical_name": "Inability to properly digest food due to lack of pancreatic digestive enzymes"} {"concept_id": "C0267988", "aliases": [], "types": ["T047"], "definition": "presence of an abnormally high amount of protein in the blood.", "canonical_name": "Hyperproteinemia"} {"concept_id": "C0268000", "aliases": ["Water retention"], "types": ["T046"], "canonical_name": "Fluid retention"} {"concept_id": "C0268030", "aliases": [], "types": ["T046"], "definition": "An abnormally low blood pH (usually defined as less than 7.35). [PMID:24381489]", "canonical_name": "Acidemia"} {"concept_id": "C0268040", "aliases": [], "types": ["T047"], "canonical_name": "Starvation ketoacidosis"} {"concept_id": "C0268047", "aliases": [], "types": ["T047"], "definition": "Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35). [HPO:probinson]", "canonical_name": "Acute respiratory acidosis"} {"concept_id": "C0268048", "aliases": [], "types": ["T047"], "definition": "Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L). [HPO:probinson]", "canonical_name": "Chronic respiratory acidosis"} {"concept_id": "C0268070", "aliases": ["Hypocupremia", "Decreased circulating copper concentration", "Copper deficiency"], "types": ["T047"], "definition": "abnormally diminished concentration of copper in the blood.", "canonical_name": "Reduced serum copper"} {"concept_id": "C0268077", "aliases": ["Low urine phosphate levels"], "types": ["T047"], "definition": "An abnormally decreased phosphate concentration in the urine. [HPO:probinson]", "canonical_name": "Hypophosphaturia"} {"concept_id": "C0268079", "aliases": ["Hyperphosphaturia"], "types": ["T047"], "definition": "An increased excretion of phosphates in the urine. [HPO:curators]", "canonical_name": "Phosphaturia"} {"concept_id": "C0268118", "aliases": [], "types": ["T047"], "definition": "A type of classical xanthinuria, this disease is a rare autosomal recessive disorder of purine metabolism with characteristics of isolated deficiency of xanthine dehydrogenase, leading to urolithiasis, haematuria, renal colic and urinary tract infections. Some patients are asymptomatic, others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.", "canonical_name": "Xanthine dehydrogenase deficiency"} {"concept_id": "C0268119", "aliases": [], "types": ["T047"], "definition": "An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features.", "canonical_name": "Molybdenum cofactor deficiency"} {"concept_id": "C0268128", "aliases": ["High urine orotic acid levels", "Increased urinary orotic acid concentration", "Orotic aciduria"], "types": ["T033"], "definition": "excess of orotic acid in the urine occurring in several metabolic disorders and also resulting from the administration of some drugs; one disorder is an autosomal recessive defect of pyrimidine metabolism due to deficiency of orate phosphoribosyltransferate or orotidine 5'-phosphatae decarboxylase.", "canonical_name": "Oroticaciduria"} {"concept_id": "C0268157", "aliases": ["Increased urinary galactose level"], "types": ["T047"], "definition": "Elevated concentration of galactose in the urine. [HPO:probinson]", "canonical_name": "Galactosuria"} {"concept_id": "C0268225", "aliases": ["High urine aspartylglucosamine levels"], "types": ["T047"], "definition": "A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood.", "canonical_name": "Aspartylglucosaminuria"} {"concept_id": "C0268306", "aliases": [], "types": ["T047"], "definition": "Abnormally high level of unconjugated bilirubin in the blood.", "canonical_name": "Unconjugated hyperbilirubinemia"} {"concept_id": "C0268307", "aliases": ["Conjugated hyperbilirubinemia"], "types": ["T047"], "definition": "Abnormally high level of conjugated bilirubin in the blood.", "canonical_name": "Direct hyperbilirubinemia"} {"concept_id": "C0268382", "aliases": [], "types": ["T047"], "definition": "A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). [HPO:probinson, PMID:25852856]", "canonical_name": "Renal amyloidosis"} {"concept_id": "C0268397", "aliases": [], "types": ["T047"], "definition": "The presence of amyloid deposition in the superficial dermis. [HPO:probinson, PMID:19690585]", "canonical_name": "Cutaneous amyloidosis"} {"concept_id": "C0268402", "aliases": [], "types": ["T047"], "definition": "A form of amyloidosis that affects the conjunctiva. [HPO:probinson]", "canonical_name": "Conjunctival amyloidosis"} {"concept_id": "C0268407", "aliases": ["Cardiac amyloidosis"], "types": ["T047"], "definition": "The accumulation of amyloid protein in the heart. Cardiac amyloidosis is irreversible and may lead to conductive dysfunction as well as heart failure secondary to restrictive cardiomyopathy.", "canonical_name": "Amyloid cardiomyopathy"} {"concept_id": "C0268412", "aliases": ["Phosphoethanolaminuria"], "types": ["T047"], "definition": "An increased concentration of phosphoethanolamine in the urine. [HPO:probinson]", "canonical_name": "High urine phosphoethanolamine levels"} {"concept_id": "C0268418", "aliases": [], "types": ["T047"], "definition": "A rare, X-linked recessive genetic disorder of glycerol metabolism caused by mutations or deletion in the GK gene. It results in deficiency of the enzyme glycerol kinase. It is characterized by elevated plasma and urine glycerol levels and neurometabolic manifestations which can cause life-threatening metabolic crisis in children.", "canonical_name": "Hyperglycerolemia"} {"concept_id": "C0268435", "aliases": ["Renal tubular acidosis, proximal", "Proximal tubular acidosis", "Renal tubular acidosis, type II"], "types": ["T047"], "definition": "The genetic defect is in the sodium bicarbonate cotransporter gene SLC4A4 resulting in impaired reabsorption of bicarbonate ions in the proximal renal tubules and bicarbonate-wasting.", "canonical_name": "Proximal renal tubular acidosis"} {"concept_id": "C0268464", "aliases": [], "types": ["T047"], "definition": "A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine). [HPO:probinson]", "canonical_name": "Transient hyperphenylalaninemia"} {"concept_id": "C0268472", "aliases": ["High urine tryptophan levels"], "types": ["T047"], "definition": "An increased concentration of tryptophan in the urine. [HPO:gcarletti, PMID:18901181]", "canonical_name": "Tryptophanuria"} {"concept_id": "C0268514", "aliases": ["Urocanic aciduria"], "types": ["T047"], "definition": "An increased concentration of urocanic acid in the urine. [HPO:probinson]", "canonical_name": "High urine urocanic acid levels"} {"concept_id": "C0268525", "aliases": ["Reduced 5-oxoprolinase level"], "types": ["T047"], "definition": "Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. [PMID:6790862]", "canonical_name": "5-oxoprolinase deficiency"} {"concept_id": "C0268528", "aliases": ["Hyperprolinemia"], "types": ["T047"], "definition": "An increased concentration of proline in the blood. [HPO:gcarletti]", "canonical_name": "Prolinemia"} {"concept_id": "C0268531", "aliases": ["Hydroxyprolinemia"], "types": ["T047"], "definition": "An increased concentration of hydroxyproline in the blood. [HPO:gcarletti]", "canonical_name": "High blood hydroxyproline levels"} {"concept_id": "C0268534", "aliases": [], "types": ["T047"], "definition": "An increased concentration of proline in the urine. [HPO:probinson]", "canonical_name": "Prolinuria"} {"concept_id": "C0268547", "aliases": [], "types": ["T047"], "definition": "Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.", "canonical_name": "Argininosuccinic aciduria"} {"concept_id": "C0268553", "aliases": ["Elevated blood lysine"], "types": ["T047"], "definition": "A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)", "canonical_name": "Hyperlysinemia"} {"concept_id": "C0268556", "aliases": [], "types": ["T047"], "definition": "Presence of saccharopine in the urine. [PMID:30573525, PMID:32768327, PMID:33996359]", "canonical_name": "Saccharopinuria"} {"concept_id": "C0268559", "aliases": ["Hyperglycinaemia", "Hyperglycinemia"], "types": ["T047"], "definition": "autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial glycine cleavage system; an enzyme system with four components: p-, t-, h-, and l-proteins; deficiency of the p-protein is the most prevalent form; clinical features include seizures, hypotonia, apnea, and coma; when the illness presents in childhood there tends to be an associated progressive dementia accompanied by extrapyramidal signs.", "canonical_name": "Elevated blood glycine levels"} {"concept_id": "C0268563", "aliases": ["High plasma sarcosine levels"], "types": ["T047"], "definition": "An elevated plasma concentration of sarcosine. [HPO:gcarletti]", "canonical_name": "Hypersarcosinemia"} {"concept_id": "C0268573", "aliases": ["High blood valine concentration"], "types": ["T047"], "definition": "An increased concentration of valine in the blood. [HPO:gcarletti]", "canonical_name": "Hypervalinemia"} {"concept_id": "C0268576", "aliases": ["Hyperleucinemia"], "types": ["T047"], "definition": "An increased concentration of leucine in the blood. [HPO:gcarletti]", "canonical_name": "High blood leucine concentration"} {"concept_id": "C0268579", "aliases": [], "types": ["T047"], "definition": "Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.", "canonical_name": "Propionic acidemia"} {"concept_id": "C0268583", "aliases": ["Elevated circulating methylmalonic acid concentration"], "types": ["T047"], "definition": "A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.", "canonical_name": "Methylmalonic acidemia"} {"concept_id": "C0268594", "aliases": ["Glutarate aciduria", "Glutaric aciduria", "Increased glutarate level in urine"], "types": ["T047"], "definition": "An increased concentration of glutaric acid in the urine. [HPO:gcarletti]", "canonical_name": "Glutaricaciduria"} {"concept_id": "C0268618", "aliases": ["High blood cystathionine levels"], "types": ["T047"], "definition": "An increased concentration of cystathionine in the blood. [HPO:gcarletti, PMID:16902722]", "canonical_name": "Cystathioninemia"} {"concept_id": "C0268624", "aliases": [], "types": ["T047"], "definition": "Abnormally reduced sulfite oxidase level. [HPO:probinson]", "canonical_name": "Sulfite oxidase deficiency"} {"concept_id": "C0268630", "aliases": [], "types": ["T047"], "definition": "An increased concentration of alanine in the blood. [HPO:gcarletti, PMID:16902722, PMID:4696900]", "canonical_name": "Hyperalaninemia"} {"concept_id": "C0268709", "aliases": ["Renal tubular defect"], "types": ["T047"], "canonical_name": "Abnormal function of filtrating structures in kidney"} {"concept_id": "C0268731", "aliases": ["Diseased glomeruli"], "types": ["T047"], "definition": "Chronic degenerative changes in the glomeruli characterized by loss of cellularity of glomerular capillary tufts and acellular deposition of immunoglobulins.", "canonical_name": "Glomerulopathy"} {"concept_id": "C0268743", "aliases": ["Dense deposit disease"], "types": ["T047"], "definition": "Proliferative glomerulonephritis characterized by activation of the alternative complement pathway, resulting in mesangial hypercellularity, endocapillary proliferation, and glomerular basement membrane intramembranous highly electron dense deposits.", "canonical_name": "Membranoproliferative glomerulonephritis type II"} {"concept_id": "C0268747", "aliases": ["Diffuse mesangial sclerosis glomerulopathy", "Diffuse mesangial sclerosis"], "types": ["T047"], "definition": "Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.", "canonical_name": "Mesangial sclerosis"} {"concept_id": "C0268800", "aliases": ["Simple renal cyst", "Simple kidney cyst"], "types": ["T047"], "definition": "A homogenous cyst located in the kidney.", "canonical_name": "single cortical cyst"} {"concept_id": "C0268842", "aliases": ["Vesicocolic fistula"], "types": ["T190"], "definition": "An aberrant, pathological communication between the colon and the bladder. [PMID:30085532]", "canonical_name": "Colovesicular fistula"} {"concept_id": "C0268875", "aliases": ["Urethrorectal fistula"], "types": ["T047"], "definition": "An abnormal connection (fistula) between the rectum and the urethra. []", "canonical_name": "Rectourethral fistula"} {"concept_id": "C0269011", "aliases": ["Enlarged penis"], "types": ["T033"], "definition": "Penile length more than 2 SD above the mean for age. []", "canonical_name": "Long penis"} {"concept_id": "C0269107", "aliases": [], "types": ["T047"], "definition": "Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding.", "canonical_name": "Cervical endometriosis"} {"concept_id": "C0269133", "aliases": ["Urethrovaginal fistula"], "types": ["T190"], "definition": "The presence of a fistula between the vagina and the urethra. [HPO:probinson]", "canonical_name": "Urethrovaginal fistulae"} {"concept_id": "C0269169", "aliases": ["Twisted fallopian tube"], "types": ["T046"], "definition": "A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation. [HPO:probinson, PMID:24251052]", "canonical_name": "Fallopian tube torsion"} {"concept_id": "C0269173", "aliases": [], "types": ["T047"], "definition": "A fluid filled sac located in the Fallopian tube. [HPO:probinson]", "canonical_name": "Fallopian tube cyst"} {"concept_id": "C0269189", "aliases": ["Cervical ectropion"], "types": ["T047"], "definition": "Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu [HPO:probinson, PMID:21270291, PMID:28460993]", "canonical_name": "Cervical ectopy"} {"concept_id": "C0269208", "aliases": [], "types": ["T047"], "definition": "Narrowing of the vaginal lumen.", "canonical_name": "Vaginal stricture"} {"concept_id": "C0269209", "aliases": [], "types": ["T047"], "definition": "Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. [PMID:24046799]", "canonical_name": "Hydrometrocolpos"} {"concept_id": "C0269214", "aliases": [], "types": ["T047"], "definition": "The presence of glandular structures in the vagina.", "canonical_name": "Vaginal adenosis"} {"concept_id": "C0269269", "aliases": ["Inverted nipples"], "types": ["T190"], "definition": "The presence of nipples that instead of pointing outward are retracted inwards. [HPO:sdoelken]", "canonical_name": "Invaginated nipples"} {"concept_id": "C0269608", "aliases": ["Antepartum hemorrhage", "Prepartum hemorrhage", "Prepartum haemorrhage"], "types": ["T046"], "definition": "Excessive blood loss prior to onset of labor.", "canonical_name": "Antepartum haemorrhage"} {"concept_id": "C0269825", "aliases": [], "types": ["T046"], "definition": "A birth complication caused by impaction of the anterior shoulder against the maternal symphysis pubis that requires additional maneuvers to relieve impaction of the fetal shoulder and allow for delivery.", "canonical_name": "Shoulder dystocia"} {"concept_id": "C0269852", "aliases": [], "types": ["T190"], "definition": "Pregnancy complication where fetal blood vessels, normally inside the umbilical cord, are left unprotected and cross FETAL MEMBRANES. It is associated with antepartum bleeding and FETAL DEATH and STILLBIRTH due to exsanguination.", "canonical_name": "Vasa previa"} {"concept_id": "C0269855", "aliases": ["Umbilical cord hematoma"], "types": ["T037"], "definition": "Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels. []", "canonical_name": "Umbilical cord haematoma"} {"concept_id": "C0270250", "aliases": [], "types": ["T047"], "definition": "Inflammation of the peritoneum caused by an intrauterine intestinal perforation leading to presence of meconium within the fetal peritoneal cavity. This is frequently seen as intra-abdominal calcifications on imaging.", "canonical_name": "Meconium peritonitis"} {"concept_id": "C0270254", "aliases": ["Hydropic placenta"], "types": ["T047"], "definition": "An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement. [HPO:hfirth]", "canonical_name": "Hydrops of the placenta"} {"concept_id": "C0270327", "aliases": ["Enuresis nocturna"], "types": ["T048"], "definition": "Involuntary discharge of URINE during sleep at night after expected age of completed development of urinary control.", "canonical_name": "Nocturnal enuresis"} {"concept_id": "C0270612", "aliases": [], "types": ["T047"], "definition": "Any of various diseases affecting the white matter of the central nervous system.", "canonical_name": "Leukoencephalopathy"} {"concept_id": "C0270680", "aliases": [], "types": ["T047"], "canonical_name": "Brain stem compression"} {"concept_id": "C0270685", "aliases": ["Abnormal deposits of calcium in the brain", "Cerebral calcification", "Intracerebral calcifications", "Intracranial calcifications", "Intracranial calcification"], "types": ["T033"], "definition": "Abnormal deposits of calcium in the cerebral tissue.", "canonical_name": "Brain calcification"} {"concept_id": "C0270725", "aliases": [], "types": ["T047"], "definition": "A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity. [HPO:probinson, PMID:32522799]", "canonical_name": "Cavitating leukodystrophy"} {"concept_id": "C0270736", "aliases": [], "types": ["T047"], "definition": "A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)", "canonical_name": "Essential tremor"} {"concept_id": "C0270742", "aliases": ["Athetoid cerebral palsy"], "types": ["T047"], "definition": "A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.", "canonical_name": "Dyskinetic cerebral palsy"} {"concept_id": "C0270790", "aliases": ["Tetraparesis"], "types": ["T184"], "definition": "Weakness of all four limbs. [HPO:probinson]", "canonical_name": "Quadriparesis"} {"concept_id": "C0270820", "aliases": ["Gelastic seizures", "Focal emotional seizure with laughing"], "types": ["T047"], "definition": "Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. [HPO:probinson, PMID:28276060, PMID:28276064]", "canonical_name": "Gelastic seizure"} {"concept_id": "C0270823", "aliases": ["Absence status epilepticus", "Generalised non-convulsive status epilepticus without coma", "Generalized non-convulsive status epilepticus without coma"], "types": ["T047"], "definition": "Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure. [PMID:26336950]", "canonical_name": "Petit mal status epilepticus"} {"concept_id": "C0270834", "aliases": ["Focal impaired awareness seizure", "Localised seizure with impaired awareness", "Focal seizure with impairment of awareness", "Localised dyscognitive seizure", "Dyscognitive seizures", "Localised seizure with loss of awareness", "Localized seizure with loss of awareness", "Partial seizure with impairment of awareness", "Localized seizure with impaired awareness", "Localized dyscognitive seizure", "Focal seizures with impairment of consciousness or awareness", "Partial seizure with loss of awareness", "Focal seizure with loss of awareness", "Partial dyscognitive seizure", "Complex partial seizure", "Focal dyscognitive seizure", "Complex focal seizures"], "types": ["T047"], "definition": "Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. [HPO:pnrobinson, PMID:28276062, PMID:28276064, PMID:9738682]", "canonical_name": "Focal impaired awareness seizures"} {"concept_id": "C0270844", "aliases": [], "types": ["T047"], "definition": "Prolonged contraction of the muscles, as the result of an epileptic discharge.", "canonical_name": "Tonic seizure"} {"concept_id": "C0270846", "aliases": ["Hypotonic seizures", "Astatic seizure", "Hypotonic seizure", "Drop attacks", "Drop seizures", "Astatic seizures", "Atonic seizures"], "types": ["T047"], "definition": "Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. [HPO:jalbers, HPO:probinson, ORCID:0000-0002-1735-8178, PMID:11580774]", "canonical_name": "Atonic seizure"} {"concept_id": "C0270871", "aliases": ["Involuntary facial contraction", "Involuntary facial quivering"], "types": ["T047"], "definition": "Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). [HPO:curators]", "canonical_name": "Facial myokymia"} {"concept_id": "C0270921", "aliases": [], "types": ["T047"], "definition": "Any nerve disorder affecting the axon of a nerve.", "canonical_name": "Axonal neuropathy"} {"concept_id": "C0270922", "aliases": [], "types": ["T047"], "definition": "Polyneuropathy that is characterized by demyelination of axons.", "canonical_name": "Demyelinating peripheral neuropathy"} {"concept_id": "C0270948", "aliases": ["Muscle atrophy, neurogenic", "Neurogenic muscle atrophy"], "types": ["T046"], "canonical_name": "Neurogenic muscular atrophy"} {"concept_id": "C0270971", "aliases": [], "types": ["T047"], "definition": "A syndrome of generalized poor muscle tone and muscle weakness presenting in a newborn infant.", "canonical_name": "Congenital hypotonia"} {"concept_id": "C0271004", "aliases": [], "types": ["T190"], "definition": "Absence of the anterior chamber of the eye owing to a developmental defect. []", "canonical_name": "Absent anterior chamber of the eye"} {"concept_id": "C0271007", "aliases": [], "types": ["T047"], "definition": "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. [HPO:probinson]", "canonical_name": "Phthisis bulbi"} {"concept_id": "C0271048", "aliases": ["Subhyaloid haemorrhage", "Subhyaloid hemorrhage"], "types": ["T047"], "definition": "A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area. [PMID:27090882]", "canonical_name": "Subhyaloid heme"} {"concept_id": "C0271049", "aliases": ["Subretinal haemorrhage", "Subretinal heme"], "types": ["T046"], "definition": "Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium. []", "canonical_name": "Subretinal hemorrhage"} {"concept_id": "C0271051", "aliases": ["Macular edema"], "types": ["T047"], "definition": "Fluid accumulation in the outer layer of the MACULA LUTEA that results from intraocular or systemic insults. It may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. Although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, DIABETIC RETINOPATHY, and posterior segment inflammatory disease. (From Survey of Ophthalmology 2004; 49(5) 470-90)", "canonical_name": "Macular oedema"} {"concept_id": "C0271053", "aliases": [], "types": ["T033"], "definition": "Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. [PMID:6169833]", "canonical_name": "Retinal cotton wool spot"} {"concept_id": "C0271055", "aliases": [], "types": ["T047"], "definition": "Retinal detachment secondary to retinal tear or break.", "canonical_name": "Rhegmatogenous retinal detachment"} {"concept_id": "C0271069", "aliases": [], "types": ["T047"], "canonical_name": "Retinal arteritis"} {"concept_id": "C0271119", "aliases": [], "types": ["T047"], "definition": "An epithelium-lined cyst located in the iris.", "canonical_name": "Iris cyst"} {"concept_id": "C0271126", "aliases": [], "types": ["T047"], "definition": "A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material. []", "canonical_name": "Anterior chamber cyst"} {"concept_id": "C0271134", "aliases": ["Abnormal pupil shape"], "types": ["T190"], "definition": "A deviation from the normal circular shape of the pupil []", "canonical_name": "Irregular pupil"} {"concept_id": "C0271160", "aliases": [], "types": ["T020"], "definition": "A type of cataract that occurs in the lens cortex. It is characterized by white, wedge-like opacities that start in the periphery of the lens and work their way to the center in a spoke-like fashion.", "canonical_name": "Cortical cataract"} {"concept_id": "C0271165", "aliases": [], "types": ["T047"], "definition": "A type of cataract with punctate opacities of the lens. [HPO:probinson]", "canonical_name": "Punctate cataract"} {"concept_id": "C0271183", "aliases": ["Severely close sighted", "Severe near sightedness", "High myopia", "Severe myopia (> -6.00 diopters)", "Severely near sighted"], "types": ["T047"], "definition": "A severe form of myopia with greater than -6.00 diopters. [DDD:ncarter]", "canonical_name": "Severe myopia"} {"concept_id": "C0271185", "aliases": [], "types": ["T184"], "definition": "A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. [HPO:probinson]", "canonical_name": "Metamorphopsia"} {"concept_id": "C0271196", "aliases": [], "types": ["T033"], "definition": "A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape. [HPO:probinson]", "canonical_name": "Centrocecal scotoma"} {"concept_id": "C0271197", "aliases": [], "types": ["T033"], "canonical_name": "Paracentral scotoma"} {"concept_id": "C0271198", "aliases": [], "types": ["T033"], "definition": "A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of EYE DISEASES (e.g., RETINAL DISEASES and GLAUCOMA), OPTIC NERVE DISEASES, and other conditions.", "canonical_name": "Arcuate scotoma"} {"concept_id": "C0271202", "aliases": ["Homonymous hemianopsia"], "types": ["T047"], "canonical_name": "Homonymous hemianopia"} {"concept_id": "C0271207", "aliases": ["Heteronymous hemianopia"], "types": ["T033"], "canonical_name": "Heteronymous hemianopsia"} {"concept_id": "C0271208", "aliases": [], "types": ["T033"], "canonical_name": "Binasal hemianopia"} {"concept_id": "C0271215", "aliases": [], "types": ["T047"], "canonical_name": "Legal blindness"} {"concept_id": "C0271287", "aliases": [], "types": ["T047"], "definition": "Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.", "canonical_name": "Crystalline corneal dystrophy"} {"concept_id": "C0271288", "aliases": ["Corneal endothelial guttata"], "types": ["T047"], "definition": "Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible. [HPO:probinson, PMID:10611102, PMID:11222329]", "canonical_name": "Corneal guttata"} {"concept_id": "C0271292", "aliases": ["Reduced corneal sensation", "Corneal hypesthesia", "Corneal hypaesthesia"], "types": ["T047"], "definition": "Reduced ability of the cornea to respond to stimulation. [HPO:probinson]", "canonical_name": "Decreased corneal sensation"} {"concept_id": "C0271298", "aliases": [], "types": ["T046"], "definition": "Edema of the mucous membrane of the eyeball and eyelid lining.", "canonical_name": "Chemosis"} {"concept_id": "C0271330", "aliases": [], "types": ["T019"], "canonical_name": "Orbital encephalocele"} {"concept_id": "C0271344", "aliases": [], "types": ["T047"], "canonical_name": "Optic nerve compression"} {"concept_id": "C0271356", "aliases": [], "types": ["T047"], "definition": "A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs. [ORCID:0000-0003-0986-4123]", "canonical_name": "Microtropia"} {"concept_id": "C0271366", "aliases": [], "types": ["T047"], "definition": "A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other. [ORCID:0000-0003-0986-4123]", "canonical_name": "Incyclotropia"} {"concept_id": "C0271367", "aliases": [], "types": ["T047"], "definition": "A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other. [UManchster:psergouniotis]", "canonical_name": "Excyclotropia"} {"concept_id": "C0271368", "aliases": [], "types": ["T047"], "definition": "Tendency for the visual axis of one eye to be higher than that of the other. [ORCID:0000-0003-0986-4123]", "canonical_name": "Hyperphoria"} {"concept_id": "C0271369", "aliases": [], "types": ["T047"], "definition": "A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards. [ORCID:0000-0003-0986-4123]", "canonical_name": "Hypophoria"} {"concept_id": "C0271375", "aliases": ["Trochlear nerve palsy", "Superior oblique palsy"], "types": ["T047"], "definition": "Partial or complete paralysis of the trochlear nerve.", "canonical_name": "Fourth cranial nerve palsy"} {"concept_id": "C0271379", "aliases": ["Convergence insufficiency"], "types": ["T047"], "definition": "Reduced ability to turn the eyes inward in order to focus on a nearby object. [HPO:probinson]", "canonical_name": "Impaired convergence"} {"concept_id": "C0271385", "aliases": ["Nystagmus, horizontal"], "types": ["T047"], "definition": "Nystagmus consisting of horizontal to-and-fro eye movements. [HPO:probinson]", "canonical_name": "Horizontal nystagmus"} {"concept_id": "C0271386", "aliases": [], "types": ["T047"], "definition": "Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. [HPO:probinson]", "canonical_name": "Vertical nystagmus"} {"concept_id": "C0271388", "aliases": ["Nystagmus, pendular"], "types": ["T047"], "definition": "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. [HPO:probinson]", "canonical_name": "Pendular nystagmus"} {"concept_id": "C0271408", "aliases": [], "types": ["T047"], "definition": "Fiber- or rope-like opacities located within the vitreous humor. []", "canonical_name": "Vitreous strands"} {"concept_id": "C0271429", "aliases": ["Acute otitis media"], "types": ["T047"], "definition": "Acute otitis media is a short and generally painful infection of the middle ear. [HPO:probinson]", "canonical_name": "Acute middle ear infection"} {"concept_id": "C0271441", "aliases": ["Otitis media, chronic", "Chronic otitis media", "Chronic infections of the middle ear"], "types": ["T047"], "definition": "Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. [HPO:probinson]", "canonical_name": "Chronic middle ear infection"} {"concept_id": "C0271469", "aliases": [], "types": ["T046"], "canonical_name": "Stenosis of the Eustachian tube"} {"concept_id": "C0271514", "aliases": [], "types": ["T047"], "definition": "Sensorineural hearing loss in which a person loses the ability to hear sounds in low frequency.", "canonical_name": "Low-frequency hearing loss"} {"concept_id": "C0271528", "aliases": [], "types": ["T047"], "canonical_name": "Isosexual precocious puberty"} {"concept_id": "C0271578", "aliases": ["Female hypogonadism"], "types": ["T047"], "definition": "Decreased functionality of the female gonads, i.e., of the ovary. [HPO:probinson]", "canonical_name": "Hypogonadism, female"} {"concept_id": "C0271586", "aliases": ["Prolactin deficiency"], "types": ["T033"], "definition": "Subnormal concentration of prolactin.", "canonical_name": "Reduced circulating prolactin concentration"} {"concept_id": "C0271616", "aliases": [], "types": ["T047"], "definition": "The onset of puberty before the age of 8 years in girls. [HPO:probinson]", "canonical_name": "Precocious puberty in females"} {"concept_id": "C0271623", "aliases": ["Low gonadotropins (secondary hypogonadism)", "Hypogonadotrophic hypogonadism"], "types": ["T047"], "definition": "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.", "canonical_name": "Hypogonadotropic hypogonadism"} {"concept_id": "C0271650", "aliases": [], "types": ["T047"], "definition": "A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION.", "canonical_name": "Glucose intolerance"} {"concept_id": "C0271683", "aliases": [], "types": ["T047"], "canonical_name": "Motor polyneuropathy"} {"concept_id": "C0271708", "aliases": ["Low blood sugar when fasting"], "types": ["T047"], "definition": "HYPOGLYCEMIA expressed in the postabsorptive state, after prolonged FASTING, or an overnight fast.", "canonical_name": "Fasting hypoglycemia"} {"concept_id": "C0271710", "aliases": ["Reactive hypoglycemia", "Low blood sugar after a meal"], "types": ["T047"], "definition": "HYPOGLYCEMIA expressed after a meal or FOOD INTAKE. It is also called reactive or stimulative hypoglycemia.", "canonical_name": "Postprandial hypoglycemia"} {"concept_id": "C0271713", "aliases": ["Ketotic hypoglycemia"], "types": ["T047"], "definition": "A condition in which hypoglycemia is accompanied by ketosis. This condition may be a manifestation of another condition such as glycogen storage disease, ketone utilization defects, growth hormone deficiency, or cortisol deficiency.", "canonical_name": "Ketotic low blood sugar"} {"concept_id": "C0271728", "aliases": ["Hyperreninemic hyperaldosteronism"], "types": ["T047"], "definition": "A form of hyperaldosteronism caused by abnormally increased renin levels. [DDD:spark]", "canonical_name": "Secondary hyperaldosteronism"} {"concept_id": "C0271750", "aliases": [], "types": ["T047"], "definition": "Calcification within the adrenal glands. [HPO:probinson]", "canonical_name": "Adrenal calcification"} {"concept_id": "C0271790", "aliases": ["Mild hypothyroidism", "Compensated hypothyroidism"], "types": ["T047"], "definition": "Hypothyroidism characterized by elevated thyroid-stimulating hormone (TSH) with normal circulating concentrations of thyroid hormones.", "canonical_name": "Subclinical hypothyroidism"} {"concept_id": "C0271801", "aliases": [], "types": ["T047"], "definition": "Abnormally low levels of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis.", "canonical_name": "Central hypothyroidism"} {"concept_id": "C0271844", "aliases": ["Enlarged parathyroid glands"], "types": ["T047"], "definition": "A hyperplasia of the parathyroid gland.", "canonical_name": "Parathyroid hyperplasia"} {"concept_id": "C0271858", "aliases": [], "types": ["T047"], "definition": "An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism.", "canonical_name": "Tertiary hyperparathyroidism"} {"concept_id": "C0271865", "aliases": [], "types": ["T047"], "definition": "A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity. [DDD:spark, PMID:19328421]", "canonical_name": "Autoimmune hypoparathyroidism"} {"concept_id": "C0271901", "aliases": ["Hypochromic microcytic anemia", "Hypochromic, microcytic anaemia", "Hypochromic, microcytic anemia"], "types": ["T047"], "definition": "anemia featuring pale erythrocytes smaller than 6 microns in diameter; typically due to iron deficiency or abnormalities in hememetabolism.", "canonical_name": "Hypochromic microcytic anaemia"} {"concept_id": "C0271902", "aliases": ["Normochromic microcytic anaemia"], "types": ["T047"], "definition": "A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. [HPO:probinson]", "canonical_name": "Normochromic microcytic anemia"} {"concept_id": "C0271972", "aliases": ["Thiamine-responsive megaloblastic anemia"], "types": ["T047"], "definition": "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. [HPO:probinson]", "canonical_name": "Thiamine-responsive megaloblastic anaemia"} {"concept_id": "C0272027", "aliases": ["Pyridoxine-responsive sideroblastic anemia"], "types": ["T047"], "definition": "A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment. [HPO:probinson]", "canonical_name": "Pyridoxine-responsive sideroblastic anaemia"} {"concept_id": "C0272173", "aliases": [], "types": ["T047"], "definition": "Impaired egress of mature neutrophils from bone marrow causing neutropenia. [PMID:10607719, PMID:25662009]", "canonical_name": "Myelokathexis"} {"concept_id": "C0272178", "aliases": [], "types": ["T047"], "definition": "A type of agranulocytosis related to ingestion of a specific medication. [HPO:probinson]", "canonical_name": "Drug-induced agranulocytosis"} {"concept_id": "C0272238", "aliases": [], "types": ["T047"], "definition": "A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.", "canonical_name": "Transient hypogammaglobulinemia of infancy"} {"concept_id": "C0272242", "aliases": [], "types": ["T047"], "definition": "A broad classification for rare genetic disorders with mostly autosomal recessive patterns of inheritance. They are caused by the ineffective or decreased biosynthesis of complement components. Complement deficiencies may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If complement components are adequately synthesized, their rapid depletion may result in functional deficiencies. Clinical signs of inherited deficiencies present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Complement deficiencies decrease the effectiveness of the humoral immune response. Of all the complement deficiencies, C3 deficiency is associated with the poorest prognosis since it presents at an early age, when susceptibility to recurrent infection is great. Deficiencies of C3 and of the classical activating pathway components: C1, C4, C2 also predispose to immune complex disease.", "canonical_name": "Complement deficiency"} {"concept_id": "C0272278", "aliases": ["thrombocytopenia, congenital"], "types": ["T047"], "definition": "Thrombocytopenia with congenital onset. [HPO:probinson]", "canonical_name": "Congenital thrombocytopenia"} {"concept_id": "C0272285", "aliases": [], "types": ["T047"], "definition": "A life-threatening complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications.", "canonical_name": "Heparin-induced thrombocytopenia"} {"concept_id": "C0272340", "aliases": ["Kininogen deficiency", "Williams factor deficiency", "Reduced kininogen activity", "Williams-Fitzgerald-Flaujeac factor deficiency"], "types": ["T047"], "definition": "A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.", "canonical_name": "Fitzgerald factor deficiency"} {"concept_id": "C0272375", "aliases": ["Antithrombin III deficiency", "Anti-thrombin III deficiency", "Reduced antithrombin III activity"], "types": ["T047"], "definition": "An absence or reduced level of Antithrombin III leading to an increased risk for thrombosis.", "canonical_name": "Decreased antithrombin III"} {"concept_id": "C0272386", "aliases": ["Tonsillar hypertrophy", "Enlargment of tonsils", "tonsils large/hypertrophy"], "types": ["T047"], "definition": "Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat. [HPO:probinson]", "canonical_name": "Enlarged tonsils"} {"concept_id": "C0272396", "aliases": [], "types": ["T047"], "definition": "An abscess that develops in a lymph node and the surrounding tissues as a result of an infectious process. The affected lymph node is palpable and tender.", "canonical_name": "Lymph node abscess"} {"concept_id": "C0272407", "aliases": ["Splenic cyst"], "types": ["T047"], "definition": "A closed sac located in the spleen. [HPO:probinson, PMID:24794024]", "canonical_name": "Cyst on spleen"} {"concept_id": "C0272412", "aliases": [], "types": ["T047"], "definition": "An abscess that is located in the spleen.", "canonical_name": "Splenic abscess"} {"concept_id": "C0272567", "aliases": [], "types": ["T037"], "definition": "More than one fracture of the ribs. [HPO:probinson]", "canonical_name": "Multiple rib fractures"} {"concept_id": "C0272600", "aliases": ["bone sternal end of clavicle"], "types": ["T037"], "definition": "A partial or complete breakage of the sternal end of clavicle. []", "canonical_name": "Fractured sternal end of clavicle"} {"concept_id": "C0272774", "aliases": ["Fractured foot bone", "Broken foot", "bone pes"], "types": ["T037"], "definition": "A traumatic break in one or more of the bones in the foot.", "canonical_name": "Fractured pes"} {"concept_id": "C0276226", "aliases": ["Herpes simplex encephalitis"], "types": ["T047"], "definition": "An acute (or rarely chronic) inflammatory process of the brain caused by SIMPLEXVIRUS infections which may be fatal. The majority of infections are caused by human herpesvirus 1 (HERPESVIRUS 1, HUMAN) and less often by human herpesvirus 2 (HERPESVIRUS 2, HUMAN). Clinical manifestations include FEVER; HEADACHE; SEIZURES; HALLUCINATIONS; behavioral alterations; APHASIA; hemiparesis; and COMA. Pathologically, the condition is marked by a hemorrhagic necrosis involving the medial and inferior TEMPORAL LOBE and orbital regions of the FRONTAL LOBE. (From Adams et al., Principles of Neurology, 6th ed, pp751-4)", "canonical_name": "Herpes encephalitis"} {"concept_id": "C0276262", "aliases": ["Flat wart"], "types": ["T020"], "definition": "Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals. [HPO:ucbasharo]", "canonical_name": "Verruca plana"} {"concept_id": "C0276653", "aliases": [], "types": ["T047"], "definition": "Lung infections with the invasive forms of ASPERGILLUS, usually after surgery, transplantation, prolonged NEUTROPENIA or treatment with high-doses of CORTICOSTEROIDS. Invasive pulmonary aspergillosis can progress to CHRONIC NECROTIZING PULMONARY ASPERGILLOSIS or hematogenous spread to other organs.", "canonical_name": "Invasive pulmonary aspergillosis"} {"concept_id": "C0276731", "aliases": [], "types": ["T047"], "definition": "A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs. [PMID:20092423, PMID:29861637]", "canonical_name": "Disseminated dermatophytosis"} {"concept_id": "C0277794", "aliases": [], "types": ["T184"], "definition": "Extreme fatigue; inability to respond to stimuli.", "canonical_name": "Prostration"} {"concept_id": "C0277827", "aliases": ["Premature closure of fontanelles", "Obliterated fontanelles"], "types": ["T033"], "definition": "Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point. [DDD:awilkie, HPO:probinson]", "canonical_name": "Early closure of the fontanelles"} {"concept_id": "C0277828", "aliases": ["Broad late closing cranial sutures", "Open sutures", "Delayed fontanelle closure", "Delayed cranial suture closure", "Delayed closure of fontanel", "Late closure of fontanelle", "Delayed closure of the fontanelles", "Late-closing fontanelle", "Delayed closure of fontanels", "Late closing fontanelles", "Delayed closure of fontanelles"], "types": ["T033"], "definition": "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. [HPO:probinson]", "canonical_name": "Delayed fontanel closure"} {"concept_id": "C0277839", "aliases": ["Hoffmann's sign"], "types": ["T184"], "definition": "A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. [PMID:11813951, PMID:20229121]", "canonical_name": "Hoffmann sign"} {"concept_id": "C0277873", "aliases": ["Flared nasal alae"], "types": ["T184"], "definition": "Enlargement of the nostrils during breathing; although there are many possible causes, it can be a sign of respiratory distress in young infants.", "canonical_name": "Nasal flaring"} {"concept_id": "C0277885", "aliases": ["Reduced systolic blood pressure", "Decreased systolic BP"], "types": ["T033"], "definition": "Systolic blood pressure that is abnormally low.", "canonical_name": "Decreased systolic blood pressure"} {"concept_id": "C0277890", "aliases": ["Reduced diastolic blood pressure", "Decreased diastolic blood pressure"], "types": ["T033"], "definition": "Diastolic blood pressure that is abnormally low.", "canonical_name": "Decreased diastolic BP"} {"concept_id": "C0277899", "aliases": [], "types": ["T033"], "definition": "The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination. []", "canonical_name": "Absent pulse"} {"concept_id": "C0277942", "aliases": ["Cheekbone rash", "Butterfly rash"], "types": ["T033"], "definition": "An erythematous eruption on the central face, which can be caused by a variety of different conditions.", "canonical_name": "Malar rash"} {"concept_id": "C0277959", "aliases": ["Coarse hair texture"], "types": ["T033"], "definition": "Hair shafts are rough in texture. [HPO:probinson]", "canonical_name": "Coarse hair"} {"concept_id": "C0277960", "aliases": [], "types": ["T033"], "definition": "Hair that lacks the lustre (shine or gleam) of normal hair. [DDD:cmoss]", "canonical_name": "Dry hair"} {"concept_id": "C0278026", "aliases": ["Acidic urine"], "types": ["T033"], "definition": "Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration. [HPO:probinson]", "canonical_name": "Aciduria"} {"concept_id": "C0278034", "aliases": [], "types": ["T033"], "definition": "The appearance of the urine having visible material in suspension, i.e., appearing cloudy. []", "canonical_name": "Cloudy urine"} {"concept_id": "C0278045", "aliases": ["Abnormal urine smell", "Abnormal urinary odor"], "types": ["T033"], "definition": "A deviation from the normal odor of the urine. [HPO:probinson]", "canonical_name": "Abnormal urinary odour"} {"concept_id": "C0278061", "aliases": ["Diminished mental health", "Mental impairment"], "types": ["T048"], "definition": "A change to an individual's judgment, orientation (to place, time, and self), intellectual functioning, or mood from their baseline.", "canonical_name": "Reduced mental health"} {"concept_id": "C0278106", "aliases": ["Anejaculation"], "types": ["T046"], "definition": "Inability to ejaculate. [HPO:probinson, PMID:24528812]", "canonical_name": "Ejaculatory incompetence"} {"concept_id": "C0278124", "aliases": [], "types": ["T033"], "canonical_name": "Absent tendon reflexes"} {"concept_id": "C0278136", "aliases": [], "types": ["T033"], "definition": "A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa. [HPO:probinson]", "canonical_name": "Dissociated sensory loss"} {"concept_id": "C0278144", "aliases": ["Dull pain"], "types": ["T184"], "definition": "A sensation of discomfort or distress that is non-specific or without clear boundaries.", "canonical_name": "Dull"} {"concept_id": "C0278151", "aliases": ["Mimic spasms", "Jerking of facial muscles", "Cramping of facial muscles", "Facial tics", "Facial spasms"], "types": ["T033"], "definition": "Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. [DDD:cwright]", "canonical_name": "Spasms of facial muscles"} {"concept_id": "C0278152", "aliases": ["Spasms on one side of the face", "Hemifacial spasm"], "types": ["T047"], "definition": "Recurrent clonic contraction of facial muscles, restricted to one side. It may occur as a manifestation of compressive lesions involving the seventh cranial nerve (FACIAL NERVE DISEASES), during recovery from BELL PALSY, or in association with other disorders. (From Adams et al., Principles of Neurology, 6th ed, p1378)", "canonical_name": "Hemifacial spasms"} {"concept_id": "C0278188", "aliases": ["Visual aura", "Partial visual seizure", "Visual auras", "Focal visual seizure"], "types": ["T047"], "definition": "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. [HPO:jalbers]", "canonical_name": "Focal sensory seizure with visual features"} {"concept_id": "C0278191", "aliases": ["Olfactory aura", "Focal sensory seizure with olfactory features", "Olfactory auras", "Focal olfactory seizure"], "types": ["T047"], "definition": "Seizures characterized by olfactory phenomena as its first clinical manifestation. [HPO:jalbers]", "canonical_name": "Partial olfactory seizure"} {"concept_id": "C0278192", "aliases": ["Focal sensory gustatory seizure", "Partial gustatory seizure", "Taste hallucinations", "Focal gustatory seizure", "Gustatory aura", "Gustatory auras"], "types": ["T047"], "definition": "A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation. [HPO:jalbers, PMID:28276060]", "canonical_name": "Focal sensory seizure with gustatory features"} {"concept_id": "C0278211", "aliases": [], "types": ["T033"], "definition": "Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles. [PMID:30480980]", "canonical_name": "Absent corneal reflex"} {"concept_id": "C0278217", "aliases": [], "types": ["T184"], "canonical_name": "von Graefe sign"} {"concept_id": "C0278701", "aliases": [], "types": ["T191"], "definition": "An adenocarcinoma arising from the stomach glandular epithelium. Gastric adenocarcinoma is primarily a disease of older individuals. It most commonly develops after a long period of atrophic gastritis and is strongly associated with Helicobacter pylori infection. The lack of early symptoms often delays the diagnosis of gastric cancer. The majority of patients present with advanced tumors which have poor rates of curability. Microscopically, two important histologic types of gastric adenocarcinoma are recognized: the intestinal and diffuse type. The overall prognosis of gastric adenocarcinomas is poor, even in patients who receive a \"curative\" resection (adapted from Sternberg's Surgical Pathology, 3rd ed., 1999).", "canonical_name": "Gastric adenocarcinoma"} {"concept_id": "C0278803", "aliases": [], "types": ["T191"], "definition": "An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.", "canonical_name": "Adenocarcinoma of the small intestine"} {"concept_id": "C0278804", "aliases": [], "types": ["T191"], "definition": "An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.", "canonical_name": "Duodenal adenocarcinoma"} {"concept_id": "C0278996", "aliases": [], "types": ["T191"], "definition": "A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.", "canonical_name": "Head and neck cancer"} {"concept_id": "C0279563", "aliases": [], "types": ["T191"], "definition": "A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma.", "canonical_name": "Lobular carcinoma in situ"} {"concept_id": "C0279680", "aliases": ["Transitional cell bladder carcinoma"], "types": ["T191"], "definition": "The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.", "canonical_name": "Transitional cell carcinoma of the bladder"} {"concept_id": "C0279702", "aliases": ["Clear cell renal cell carcinoma"], "types": ["T191"], "definition": "A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.", "canonical_name": "Nonpapillary renal cell carcinoma"} {"concept_id": "C0280089", "aliases": ["Lung carcinoid tumor", "Lung carcinoid tumour", "Pulmonary carcinoid tumor"], "types": ["T191"], "definition": "A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis.", "canonical_name": "Pulmonary carcinoid tumour"} {"concept_id": "C0280131", "aliases": [], "types": ["T191"], "definition": "A benign, immature, or malignant teratoma arising from the ovary.", "canonical_name": "Ovarian teratoma"} {"concept_id": "C0280313", "aliases": [], "types": ["T191"], "definition": "A squamous cell carcinoma arising from the oropharynx. It predominantly affects adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with locally advanced disease. Signs and symptoms include mucosal ulceration, pain, bleeding, weight loss, neck swelling, and difficulty speaking, chewing, and swallowing. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.", "canonical_name": "Oropharyngeal squamous cell carcinoma"} {"concept_id": "C0280631", "aliases": [], "types": ["T191"], "definition": "An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.", "canonical_name": "Uterine leiomyosarcoma"} {"concept_id": "C0280803", "aliases": ["Primary CNS lymphoma"], "types": ["T191"], "definition": "A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.", "canonical_name": "Primary central nervous system lymphoma"} {"concept_id": "C0280856", "aliases": ["Squamous cell carcinoma of the vulva"], "types": ["T191"], "definition": "A squamous cell carcinoma that arises from the vulva. It is classified as human papillomavirus-related or human papillomavirus-independent. When p16 immunohistochemistry or HPV testing is not available, the morphological diagnosis of squamous cell carcinoma, not otherwise specified is acceptable.", "canonical_name": "Vulval squamous cell carcinoma"} {"concept_id": "C0281361", "aliases": [], "types": ["T191"], "definition": "An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma.", "canonical_name": "Pancreatic adenocarcinoma"} {"concept_id": "C0281788", "aliases": [], "types": ["T047"], "canonical_name": "Biventricular hypertrophy", "definition": "An electrocardiographic finding suggestive of enlargement or thickening of both ventricles, with a combination of findings which are related to LVH and RVH, such as voltage criteria for LVH in the presence of marked right axis deviation. (CDISC)"} {"concept_id": "C0281842", "aliases": ["Abnormality of the fallopian tube"], "types": ["T190"], "canonical_name": "Abnormal fallopian tube morphology", "definition": "An abnormality of the fallopian tube. [HPO:probinson]"} {"concept_id": "C0281851", "aliases": ["Fractured tarsal bone"], "types": ["T037"], "definition": "A partial or complete breakage of the tarsal bone. []", "canonical_name": "bone tarsal bone"} {"concept_id": "C0281890", "aliases": ["Laryngeal webs", "Laryngeal web"], "types": ["T047"], "definition": "Tissue that develops between the vocal cords.", "canonical_name": "Partial laryngeal atresia"} {"concept_id": "C0281926", "aliases": ["Fractured calcaneus"], "types": ["T037"], "definition": "A partial or complete breakage of the calcaneus. []", "canonical_name": "bone calcaneus"} {"concept_id": "C0281966", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of the reproductive system"} {"concept_id": "C0281967", "aliases": [], "types": ["T047"], "canonical_name": "Retinal infarction"} {"concept_id": "C0281986", "aliases": ["Aseptic leukocyturia"], "types": ["T033"], "definition": "The presence of leukocytes in the urine without evidence of an infection. (ACC-AHA)", "canonical_name": "Sterile pyuria"} {"concept_id": "C0282160", "aliases": ["Cutis aplasia", "Absence of part of skin at birth", "Congenital absence of skin"], "types": ["T019"], "definition": "Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation.", "canonical_name": "Aplasia cutis congenita"} {"concept_id": "C0282607", "aliases": [], "types": ["T191"], "definition": "Neoplasms located in the vasculature system, such as ARTERIES and VEINS. They are differentiated from neoplasms of vascular tissue (NEOPLASMS, VASCULAR TISSUE), such as ANGIOFIBROMA or HEMANGIOMA.", "canonical_name": "Vascular neoplasm"} {"concept_id": "C0302129", "aliases": ["Rod monochromacy", "Rod monochromatism"], "types": ["T047"], "definition": "A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. [DDD:gblack, PMID:12015282]", "canonical_name": "Achromatopsia"} {"concept_id": "C0302164", "aliases": [], "types": ["T047"], "definition": "A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes. []", "canonical_name": "Tuberous xanthoma"} {"concept_id": "C0302173", "aliases": ["Bone marrow maturation arrest", "Haematopoietic maturation arrest"], "types": ["T049"], "definition": "Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow. []", "canonical_name": "Hematopoietic maturation arrest"} {"concept_id": "C0302254", "aliases": [], "types": ["T190"], "definition": "A type of cataract that is not apparent at birth but that arises in childhood or adolescence. [HPO:probinson]", "canonical_name": "Juvenile cataract"} {"concept_id": "C0302280", "aliases": [], "types": ["T047"], "definition": "Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONADS or the ADRENAL GLANDS, such as in CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. Due to abnormal steroid biosynthesis, clinical features include VIRILISM in females; FEMINIZATION in males; or precocious sexual development in children.", "canonical_name": "Adrenogenital syndrome"} {"concept_id": "C0302302", "aliases": ["Whitehead"], "types": ["T046"], "definition": "A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead. []", "canonical_name": "Closed comedo"} {"concept_id": "C0302314", "aliases": [], "types": ["T047"], "definition": "A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. -- 2003", "canonical_name": "Xanthoma"} {"concept_id": "C0302501", "aliases": [], "types": ["T190"], "canonical_name": "Mandibular hyperplasia"} {"concept_id": "C0302809", "aliases": [], "types": ["T047"], "definition": "Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice. [HPO:probinson, PMID:18825677]", "canonical_name": "Fulminant hepatitis"} {"concept_id": "C0302844", "aliases": ["Reduced erythrocyte volume"], "types": ["T033"], "canonical_name": "Decreased MCV"} {"concept_id": "C0302845", "aliases": ["Increased MCV", "Erythrocyte macrocytosis"], "types": ["T033"], "definition": "Larger than normal size of erythrocytes. [HPO:probinson]", "canonical_name": "Increased mean corpuscular volume"} {"concept_id": "C0302859", "aliases": ["Euthyroid goiter"], "types": ["T047"], "definition": "A goiter that is not associated with functional thyroid abnormalities. [HPO:probinson]", "canonical_name": "Euthyroid goitre"} {"concept_id": "C0302885", "aliases": [], "types": ["T019"], "canonical_name": "Testicular dysgenesis"} {"concept_id": "C0311220", "aliases": ["Spiegler-Fendt sarcoid", "Skin pseudolymphoma"], "types": ["T191"], "definition": "A pseudolymphoma of the skin.", "canonical_name": "Lymphocytoma cutis"} {"concept_id": "C0311249", "aliases": [], "types": ["T019"], "definition": "A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.", "canonical_name": "Cryptophthalmos"} {"concept_id": "C0311277", "aliases": ["Abdominal obesity"], "types": ["T033"], "definition": "A condition of having excess fat in the abdomen. Abdominal obesity is typically defined as waist circumferences of 40 inches or more in men and 35 inches or more in women. Abdominal obesity raises the risk of developing disorders, such as DIABETES; HYPERTENSION; and METABOLIC SYNDROME.", "canonical_name": "Central obesity"} {"concept_id": "C0311335", "aliases": ["Tonic-clonic status epilepticus", "Generalized convulsive status epilepticus", "Convulsive status epilepticus"], "types": ["T047"], "definition": "A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. [ORCID:0000-0002-1735-8178, PMID:26336950]", "canonical_name": "Generalised convulsive status epilepticus"} {"concept_id": "C0311338", "aliases": [], "types": ["T019"], "definition": "A rare genetic retinal dystrophy with characteristics of the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.", "canonical_name": "Fundus albipunctatus"} {"concept_id": "C0311394", "aliases": ["Walking disability", "Difficulty in walking"], "types": ["T033"], "definition": "Any persistent problem with walking.", "canonical_name": "Difficulty walking"} {"concept_id": "C0311395", "aliases": [], "types": ["T033"], "definition": "leg pain and weakness brought on by walking", "canonical_name": "Limp"} {"concept_id": "C0311468", "aliases": ["High blood bilirubin levels"], "types": ["T033"], "definition": "Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice.", "canonical_name": "Hyperbilirubinemia"} {"concept_id": "C0312420", "aliases": [], "types": ["T048"], "definition": "Pathological persistent sexual disinhibiting behavior, directed at oneself or to others. [ICM:PCaroppo]", "canonical_name": "Hypersexuality"} {"concept_id": "C0332161", "aliases": ["Ameliorated by"], "types": ["T080"], "definition": "An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable []", "canonical_name": "Improved by"} {"concept_id": "C0332164", "aliases": [], "types": ["T079"], "canonical_name": "Gradual onset"} {"concept_id": "C0332169", "aliases": [], "types": ["T079"], "definition": "The time between sunrise and sunset while it is light.", "canonical_name": "Diurnal"} {"concept_id": "C0332182", "aliases": [], "types": ["T079"], "definition": "Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length. []", "canonical_name": "Periodic"} {"concept_id": "C0332183", "aliases": ["Frequent (79-30%)"], "types": ["T079"], "definition": "Coming at short intervals or in great quantities.", "canonical_name": "Frequent"} {"concept_id": "C0332196", "aliases": ["Excluded"], "types": ["T169"], "definition": "Present in 0% of the cases. []", "canonical_name": "Excluded (0%)"} {"concept_id": "C0332304", "aliases": [], "types": ["T082"], "definition": "Dominant use or manifestations of one side of the body versus the other; referring to a side of the body or of a structure.", "canonical_name": "Laterality"} {"concept_id": "C0332477", "aliases": [], "types": ["T033"], "definition": "A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. []", "canonical_name": "Erythematous plaque"} {"concept_id": "C0332563", "aliases": ["Papules", "Papule"], "types": ["T033"], "definition": "A small, solid, usually inflammatory elevation of the skin that does not contain pus", "canonical_name": "Skin papules"} {"concept_id": "C0332573", "aliases": ["Flat, discolored area of skin", "Macule"], "types": ["T033"], "definition": "A flat lesion characterized by change in the skin color.", "canonical_name": "Flat, discoloured area of skin"} {"concept_id": "C0332579", "aliases": [], "types": ["T033"], "definition": "A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels. [PMID:17143977]", "canonical_name": "Livedo"} {"concept_id": "C0332601", "aliases": ["Puffy facies", "Moon facies", "Puffy face"], "types": ["T184"], "definition": "A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. [HPO:probinson]", "canonical_name": "Moon face"} {"concept_id": "C0332606", "aliases": ["Leprechaun facies", "Elf-like facial appearance", "Elfin facies"], "types": ["T184"], "definition": "This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. [HPO:probinson]", "canonical_name": "Elf-like facial features"} {"concept_id": "C0332615", "aliases": ["Myopathic face", "Myopathic facial appearance"], "types": ["T033"], "definition": "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. [HPO:curators]", "canonical_name": "Myopathic facies"} {"concept_id": "C0332710", "aliases": [], "types": ["T037"], "definition": "A type of fracture in which the break is in a straight line across the bone. []", "canonical_name": "Transverse fracture"} {"concept_id": "C0332711", "aliases": [], "types": ["T037"], "definition": "A type of fracture in which there is a diagonal break across the bone. []", "canonical_name": "Oblique fracture"} {"concept_id": "C0332712", "aliases": [], "types": ["T037"], "definition": "A type of fracture in which the break spirals around the bone. []", "canonical_name": "Spiral fracture"} {"concept_id": "C0332716", "aliases": ["Incomplete fracture"], "types": ["T037"], "definition": "A type of fracture in which the broken bone is not completely separated. []", "canonical_name": "Greenstick fracture"} {"concept_id": "C0332717", "aliases": [], "types": ["T037"], "definition": "A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone. []", "canonical_name": "Segmental fracture"} {"concept_id": "C0332743", "aliases": [], "types": ["T046"], "definition": "A bone fracture that is taking an abnormally long time to heal.", "canonical_name": "Delayed fracture healing"} {"concept_id": "C0332758", "aliases": [], "types": ["T037"], "definition": "Tearing away of the CORTICAL BONE fragment at the location of a strong ligament or tendon attachment. The bone fragment detachment site often occurs near a soft site (e.g., GROWTH PLATE) at the base where LIGAMENTS; TENDONS; or JOINT CAPSULES attach. In younger patients it is most often caused by a sudden forceful pull on a tendon in the opposite direction of the bone movement. In the elderly it is associated with osteoporotic INSUFFICIENCY FRACTURES.", "canonical_name": "Avulsion fracture"} {"concept_id": "C0332768", "aliases": [], "types": ["T037"], "definition": "Partial or incomplete displacement of an articulation.", "canonical_name": "Joint subluxation"} {"concept_id": "C0332790", "aliases": ["Bony ankylosis", "Fusion of joints"], "types": ["T020"], "definition": "The abnormal fusion of neighboring bones across a joint. [HPO:probinson]", "canonical_name": "Synostosis of joints"} {"concept_id": "C0332792", "aliases": ["Multiple joint dislocations"], "types": ["T037"], "definition": "Dislocation of many joints. [HPO:probinson]", "canonical_name": "Multiple joint dislocation"} {"concept_id": "C0332878", "aliases": ["Congenital joint contractures", "congenital contractures"], "types": ["T019"], "canonical_name": "Congenital contracture", "definition": "One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. [HPO:probinson]"} {"concept_id": "C0332890", "aliases": ["Hemihypertrophy"], "types": ["T019"], "definition": "A finding indicating the presence of greater than normal asymmetry between the right and left sides of the body. The asymmetry may be manifested in the entire side or part of it.", "canonical_name": "Asymmetric limb hypertrophy"} {"concept_id": "C0333014", "aliases": ["Staghorn renal stone"], "types": ["T047"], "definition": "Renal calculi with a characteristic shape like antlers of a deer, formed as it extends into multiple calices of the RENAL PELVIS. A large number of staghorn calculi as well as other URINARY CALCULI are composed of STRUVITE.", "canonical_name": "Staghorn calculus"} {"concept_id": "C0333068", "aliases": ["Flexion contractures", "Flexion contractures of joints", "Flexion contracture"], "types": ["T190"], "definition": "A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [HPO:probinson]", "canonical_name": "Flexed joint that cannot be straightened"} {"concept_id": "C0333121", "aliases": [], "types": ["T031"], "definition": "A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. [PMID:26079824]", "canonical_name": "Hyaline casts"} {"concept_id": "C0333128", "aliases": ["Blackhead"], "types": ["T047"], "definition": "A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black. []", "canonical_name": "Open comedo"} {"concept_id": "C0333133", "aliases": [], "types": ["T031"], "definition": "Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection. []", "canonical_name": "Mucus plug"} {"concept_id": "C0333222", "aliases": ["Septic emboli"], "types": ["T020"], "definition": "Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system. [ORCID:0000-0002-4095-8489, PMID:31751017]", "canonical_name": "Septic embolism"} {"concept_id": "C0333302", "aliases": ["Stercoral ulcer"], "types": ["T047"], "definition": "An ulcer of the colon due to pressure and irritation from retained fecal masses. [ORCID:0000-0001-5208-3432, PMID:7065551]", "canonical_name": "Recto-sigmoid colon stercoral ulcer"} {"concept_id": "C0333418", "aliases": [], "types": ["T046"], "definition": "A granuloma that is not associated with necrotic changes. The majority of cases are of non-infectious origin. Causes include sarcoidosis, hypersensitivity pneumonitis, drug reactions, and Crohn disease.", "canonical_name": "Non-necrotizing granuloma"} {"concept_id": "C0333440", "aliases": ["Colloid bodies of Civatte", "Hyaline bodies", "Cytoid bodies", "Colloid bodies"], "types": ["T190"], "definition": "Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant [PMID:23919028]", "canonical_name": "Civatte bodies"} {"concept_id": "C0333454", "aliases": [], "types": ["T046"], "definition": "Electron-dense granules within double membrane-bound cytoplasmic vacuoles. [PMID:22073234]", "canonical_name": "Granulovacuolar degeneration"} {"concept_id": "C0333463", "aliases": ["Braindruse", "Senile druse", "Senile plaques"], "types": ["T020"], "definition": "plaques consist of amyloid deposits surrounded by a web of astrocytic processes, swollen neurites, and neuron terminals; seen in the cerebral cortex in Alzheimer's disease.", "canonical_name": "Neuritic plaques"} {"concept_id": "C0333484", "aliases": [], "types": ["T033"], "definition": "Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV. [PMID:8181179]", "canonical_name": "Fatty streak"} {"concept_id": "C0333490", "aliases": [], "types": ["T046"], "definition": "Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections. [PMID:27031798]", "canonical_name": "Medial degeneration"} {"concept_id": "C0333497", "aliases": [], "types": ["T047"], "definition": "Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. [KPMP:arosenberg]", "canonical_name": "Segmental glomerulosclerosis"} {"concept_id": "C0333563", "aliases": [], "types": ["T031"], "definition": "Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactantnplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult. [LMU:mgriese, PMID:24224590]", "canonical_name": "Hyaline membranes"} {"concept_id": "C0333662", "aliases": ["Hemiatrophy of the body", "Asymmetric limb shortening"], "types": ["T046"], "definition": "Undergrowth of the limbs that affects only one side. [DDD:hfirth]", "canonical_name": "Hemiatrophy"} {"concept_id": "C0333731", "aliases": ["Rosenthal fibres"], "types": ["T026"], "definition": "Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders. [HPO:sdoelken]", "canonical_name": "Rosenthal fibers"} {"concept_id": "C0333746", "aliases": [], "types": ["T033"], "definition": "A round basophilic inclusion body that contains calcium and iron. It is found in the bladder wall of patients with malakoplakia.", "canonical_name": "Michaelis-Gutmann bodies"} {"concept_id": "C0333749", "aliases": [], "types": ["T026"], "definition": "An intraneuronal inclusion body composed of acid mucopolysaccharides. [HPO:sdoelken]", "canonical_name": "Lafora bodies"} {"concept_id": "C0333751", "aliases": ["Muscle fiber degeneration", "Muscle fibre degeneration", "Muscle fiber atrophy"], "types": ["T049"], "canonical_name": "Muscle fibre atrophy"} {"concept_id": "C0333757", "aliases": ["Perifascicular muscle fiber atrophy"], "types": ["T047"], "canonical_name": "Perifascicular muscle fibre atrophy"} {"concept_id": "C0333759", "aliases": ["Muscle fibre hypertrophy"], "types": ["T033"], "canonical_name": "Muscle fiber hypertrophy"} {"concept_id": "C0333770", "aliases": ["Ring fibers"], "types": ["T026"], "definition": "Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation. [HPO:sdoelken]", "canonical_name": "Ring fibres"} {"concept_id": "C0333776", "aliases": [], "types": ["T049"], "definition": "Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images. [PMID:28499424]", "canonical_name": "Zebra bodies"} {"concept_id": "C0333814", "aliases": [], "types": ["T033"], "definition": "A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain). [PMID:15054821, PMID:21250106]", "canonical_name": "Pappenheimer bodies"} {"concept_id": "C0333864", "aliases": [], "types": ["T033"], "definition": "Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). [HPO:probinson]", "canonical_name": "Giant platelets"} {"concept_id": "C0333912", "aliases": [], "types": ["T033"], "definition": "An anemic condition which results from a lack hemoglobin within erythrocytes.", "canonical_name": "Hypochromia"} {"concept_id": "C0333913", "aliases": [], "types": ["T049"], "canonical_name": "Achromasia"} {"concept_id": "C0333942", "aliases": [], "types": ["T034"], "definition": "The reaction of red cells to stain as indicated by the appearance of bluish or grayish colored erythrocytes.", "canonical_name": "Polychromasia"} {"concept_id": "C0333998", "aliases": ["Lymphonodular hyperplasia of the colon"], "types": ["T047"], "definition": "Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236). [PMID:10400105, PMID:17368236]", "canonical_name": "Lymphoid nodular hyperplasia"} {"concept_id": "C0334013", "aliases": ["Hyperkeratosis follicularis"], "types": ["T047"], "definition": "Rough, dry, hypertrophic eruption of the skin associated with vitamin A deficiency.", "canonical_name": "Follicular hyperkeratosis"} {"concept_id": "C0334041", "aliases": ["Osteomatosis", "Cutaneous osteosis", "Miliary osteoma"], "types": ["T047"], "definition": "Heterotopic ossification of the skin not associated with a preexisting lesion or process, such as inflammation or neoplasia.", "canonical_name": "Osteoma cutis"} {"concept_id": "C0334082", "aliases": ["Epidermal nevi"], "types": ["T047"], "definition": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.", "canonical_name": "Epidermal nevus"} {"concept_id": "C0334083", "aliases": [], "types": ["T191"], "definition": "A hamartoma characterized by localized malformation of one or more of the components of the dermis; presenting as clustered, slightly raised, pea-sized lesions distributed over the abdomen, back, buttocks, arms, or thighs. It may be an isolated lesion or a component of one of a number of inherited disorders, such as tuberous sclerosis.", "canonical_name": "Connective tissue nevi"} {"concept_id": "C0334091", "aliases": [], "types": ["T191"], "canonical_name": "Biliary hamartoma"} {"concept_id": "C0334126", "aliases": ["Mucinous histiocytosis"], "types": ["T047"], "definition": "Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone. [PMID:10606860]", "canonical_name": "Histiocytosis, mucinous"} {"concept_id": "C0334144", "aliases": [], "types": ["T046"], "definition": "The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern. [PMID:21502911, PMID:30363608]", "canonical_name": "Perivascular fibrosis"} {"concept_id": "C0334166", "aliases": [], "types": ["T047"], "canonical_name": "Pseudoainhum"} {"concept_id": "C0334263", "aliases": ["Tricholemmoma"], "types": ["T191"], "definition": "A benign neoplasm arising from the outer hair sheath and infundibulum. It occurs in the head and neck, usually on the face. It usually presents as an exophytic wart-like lesion or a dome-shaped lesion with smooth surface. Multiple facial lesions are usually associated with Cowden disease.", "canonical_name": "Trichilemmoma"} {"concept_id": "C0334352", "aliases": ["Ceruminoma", "Ceruminous adenoma", "Adenoma of the ceruminous gland"], "types": ["T191"], "definition": "A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.", "canonical_name": "Neoplasm of the ceruminal gland"} {"concept_id": "C0334424", "aliases": [], "types": ["T191"], "definition": "An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance.", "canonical_name": "Nodular melanoma"} {"concept_id": "C0334438", "aliases": [], "types": ["T191"], "definition": "A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.", "canonical_name": "Superficial spreading melanoma"} {"concept_id": "C0334489", "aliases": [], "types": ["T191"], "definition": "A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis.", "canonical_name": "Pancreatoblastoma"} {"concept_id": "C0334583", "aliases": [], "types": ["T191"], "definition": "A WHO grade 1, relatively circumscribed, slowly growing, often cystic astrocytoma occurring in children and young adults. Histologically it is characterized by a biphasic pattern with compacted bipolar cells associated with Rosenthal fibers and multipolar cells associated with microcysts and eosinophilic bodies/hyaline droplets. (WHO)", "canonical_name": "Pilocytic astrocytoma"} {"concept_id": "C0334586", "aliases": [], "types": ["T191"], "definition": "A WHO grade 2 astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.", "canonical_name": "Pleomorphic xanthoastrocytoma"} {"concept_id": "C0334595", "aliases": [], "types": ["T191"], "definition": "Extensive and diffuse infiltration of tissues by ganglioneuroma.", "canonical_name": "Ganglioneuromatosis"} {"concept_id": "C0338078", "aliases": ["Hormonally silent pituitary adenoma", "Non-functional pituitary adenoma", "Pituitary null cell adenoma", "Clinically silent pituitary adenoma"], "types": ["T191"], "definition": "A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome.", "canonical_name": "Silent pituitary adenoma"} {"concept_id": "C0338106", "aliases": [], "types": ["T191"], "definition": "An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.", "canonical_name": "Adenocarcinoma of the colon"} {"concept_id": "C0338401", "aliases": [], "types": ["T047"], "definition": "Inflamation of the brain related to infection by an enterovirus. []", "canonical_name": "Enteroviral encephalitis"} {"concept_id": "C0338451", "aliases": [], "types": ["T047"], "definition": "The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight.", "canonical_name": "Frontotemporal dementia"} {"concept_id": "C0338455", "aliases": [], "types": ["T047"], "canonical_name": "Frontal lobe dementia"} {"concept_id": "C0338462", "aliases": [], "types": ["T048"], "definition": "A progressive loss of the ability to remember the meaning of words, faces and objects. [ICM:PCaroppo, PMID:24966676]", "canonical_name": "Semantic dementia"} {"concept_id": "C0338474", "aliases": ["Demyelination in central white matter"], "types": ["T047"], "definition": "A loss of myelin from nerve fibers in the central nervous system. [HPO:probinson]", "canonical_name": "CNS demyelination"} {"concept_id": "C0338480", "aliases": [], "types": ["T047"], "definition": "A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.", "canonical_name": "Migraine without aura"} {"concept_id": "C0338502", "aliases": ["Underdeveloped optic nerves", "Hypoplastic optic nerves"], "types": ["T047"], "definition": "A congenital abnormality characterized by the underdevelopment of the optic nerve.", "canonical_name": "Optic nerve hypoplasia"} {"concept_id": "C0338503", "aliases": ["Septo-optic dysplasia"], "types": ["T047"], "definition": "A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism.", "canonical_name": "De Morsier syndrome"} {"concept_id": "C0338573", "aliases": [], "types": ["T047"], "definition": "An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses. [ORCID:0000-0002-1735-8178, PMID:29923367]", "canonical_name": "Cerebral venous sinus thrombosis"} {"concept_id": "C0338585", "aliases": [], "types": ["T047"], "definition": "Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.", "canonical_name": "Carotid artery dissection"} {"concept_id": "C0338591", "aliases": [], "types": ["T048"], "definition": "A syndrome characterized by a transient loss of the ability to form new memories. It primarily occurs in middle aged or elderly individuals, and episodes may last from minutes to hours. During the period of amnesia, immediate and recent memory abilities are impaired, but the level of consciousness and ability to perform other intellectual tasks are preserved. The condition is related to bilateral dysfunction of the medial portions of each TEMPORAL LOBE. Complete recovery normally occurs, and recurrences are unusual. (From Adams et al., Principles of Neurology, 6th ed, pp429-30)", "canonical_name": "Transient global amnesia"} {"concept_id": "C0338597", "aliases": [], "types": ["T033"], "definition": "Solitary or multiple cysts within the fetal choroid plexus that frequently spontaneously resolve antenatally and do not usually have postnatal sequelae.", "canonical_name": "Choroid plexus cyst"} {"concept_id": "C0338614", "aliases": ["Psychotic episodes"], "types": ["T048"], "canonical_name": "Psychotic episodes"} {"concept_id": "C0338656", "aliases": ["Cognitive defects", "Cognitive deficits"], "types": ["T048"], "definition": "Interference or disruption of cognitive processes. This term encompasses a large number of problems and issues associated with intellectual functioning and information processing. 2005", "canonical_name": "Cognitive impairment"} {"concept_id": "C0338768", "aliases": ["Benzodiazepine dependence"], "types": ["T048"], "definition": "Addiction to a benzodiazepine. [ORCID:0000-0002-4095-8489, PMID:28790493]", "canonical_name": "Benzodiazepine addiction"} {"concept_id": "C0339063", "aliases": [], "types": ["T047"], "canonical_name": "Cellulitis of eyelids"} {"concept_id": "C0339182", "aliases": ["Ankyloblepharon", "Adhesion of eyelids", "Eyelid synechiae"], "types": ["T190"], "definition": "Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. [PMID:18125427]", "canonical_name": "Eyelids stuck together"} {"concept_id": "C0339200", "aliases": [], "types": ["T037"], "definition": "Breakage of the sclera. []", "canonical_name": "Scleral rupture"} {"concept_id": "C0339206", "aliases": [], "types": ["T047"], "definition": "A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. [HPO:probinson, PMID:24600153]", "canonical_name": "Anterior staphyloma"} {"concept_id": "C0339268", "aliases": [], "types": ["T019"], "canonical_name": "Arcus juvenilis"} {"concept_id": "C0339277", "aliases": [], "types": ["T047"], "definition": "An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.", "canonical_name": "Juvenile epithelial corneal dystrophy"} {"concept_id": "C0339284", "aliases": [], "types": ["T047"], "definition": "This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma. [HPO:probinson]", "canonical_name": "Polymorphous posterior corneal dystrophy"} {"concept_id": "C0339293", "aliases": [], "types": ["T037"], "definition": "A puncture or hole through the CORNEAL STROMA resulting from various diseases or trauma.", "canonical_name": "Corneal perforation"} {"concept_id": "C0339352", "aliases": [], "types": ["T047"], "definition": "A cataract that affects the capsule of the lens. [HPO:probinson]", "canonical_name": "Capsular cataract"} {"concept_id": "C0339477", "aliases": [], "types": ["T047"], "definition": "A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature. [PMID:10379021, PMID:16120862]", "canonical_name": "Lipemia retinalis"} {"concept_id": "C0339480", "aliases": ["Parafoveal telangiectasia", "Juxtafoveal telangiectasia"], "types": ["T047"], "canonical_name": "Macular telangiectasia"} {"concept_id": "C0339484", "aliases": [], "types": ["T047"], "canonical_name": "Photic retinopathy"} {"concept_id": "C0339495", "aliases": [], "types": ["T047"], "definition": "Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers. [PMID:28058169, UManchester:psergouniotis]", "canonical_name": "Cilioretinal artery occlusion"} {"concept_id": "C0339505", "aliases": [], "types": ["T046"], "definition": "Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels. [PMID:30570991, UManchester:psergouniotis]", "canonical_name": "Branch retinal vein occlusion"} {"concept_id": "C0339510", "aliases": [], "types": ["T047"], "definition": "Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel.", "canonical_name": "Vitelliform macular dystrophy"} {"concept_id": "C0339535", "aliases": ["Static congenital hemeralopia", "Night blindness, congenital stationary", "Congenital night blindness", "Congenital stationary night blindness"], "types": ["T019"], "definition": "A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. [HPO:probinson]", "canonical_name": "Night blindness since birth"} {"concept_id": "C0339537", "aliases": ["Blue cone monochromatism", "Incomplete achromatopsia", "S-cone monochromacy"], "types": ["T019"], "definition": "A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. [HPO:probinson]", "canonical_name": "Blue cone monochromacy"} {"concept_id": "C0339543", "aliases": ["Macular pucker", "Premacular fibrosis", "Epiretinal membrane"], "types": ["T190"], "definition": "A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) RETINAL PIGMENT EPITHELIUM. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the FOVEA CENTRALIS. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with RETINAL HOLES, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)", "canonical_name": "Epiretinal membranes"} {"concept_id": "C0339554", "aliases": [], "types": ["T191"], "definition": "An astrocytoma that arises from the retina. It is often found in association with the tuberous sclerosis complex.", "canonical_name": "Retinal astrocytic hamartoma"} {"concept_id": "C0339555", "aliases": [], "types": ["T019"], "definition": "A congenital patch of hypertrophic, benign retinal pigment epithelial cells containing macromelanosomes. The lesions are typically asymptomatic and are found incidentally during ophthalmoscopy. (WHO 2018)", "canonical_name": "Congenital hypertrophy of retinal pigment epithelium"} {"concept_id": "C0339573", "aliases": [], "types": ["T047"], "definition": "A form of glaucoma in which there is no visible abnormality in the trabecular meshwork.", "canonical_name": "Primary open angle glaucoma"} {"concept_id": "C0339624", "aliases": ["Secondary esotropia"], "types": ["T047"], "definition": "Convergent squint which follows loss or impairment of vision. [ORCID:0000-0003-0986-4123]", "canonical_name": "Sensory esotropia"} {"concept_id": "C0339625", "aliases": [], "types": ["T047"], "definition": "Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection. [ORCID:0000-0003-0986-4123]", "canonical_name": "Consecutive esotropia"} {"concept_id": "C0339636", "aliases": [], "types": ["T047"], "canonical_name": "Secondary exotropia"} {"concept_id": "C0339637", "aliases": [], "types": ["T047"], "definition": "Exotropia in an individual who has previously had esotropia or esophoria. [ORCID:0000-0003-0986-4123]", "canonical_name": "Consecutive exotropia"} {"concept_id": "C0339639", "aliases": [], "types": ["T047"], "definition": "A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards. [ORCID:0000-0003-0986-4123]", "canonical_name": "Alternating hypertropia"} {"concept_id": "C0339640", "aliases": [], "types": ["T047"], "definition": "An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering. [ISBN-13:978-0199679980]", "canonical_name": "Dissociated vertical deviation"} {"concept_id": "C0339643", "aliases": [], "types": ["T047"], "definition": "A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. [ORCID:0000-0003-0986-4123, PMID:23479532]", "canonical_name": "Double elevator palsy"} {"concept_id": "C0339644", "aliases": [], "types": ["T047"], "definition": "An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. [ORCID:0000-0003-0986-4123]", "canonical_name": "Double depressor palsy"} {"concept_id": "C0339652", "aliases": [], "types": ["T047"], "canonical_name": "Vertical gaze palsy"} {"concept_id": "C0339672", "aliases": ["Latent hypermetropia"], "types": ["T047"], "definition": "A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye. []", "canonical_name": "Latent hyperopia"} {"concept_id": "C0339682", "aliases": [], "types": ["T047"], "definition": "A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. [ORCID:0000-0003-0986-4123]", "canonical_name": "Corneal astigmatism"} {"concept_id": "C0339683", "aliases": [], "types": ["T047"], "definition": "A type of astigmatism related to an irregular shape of the lens. []", "canonical_name": "Lenticular astigmatism"} {"concept_id": "C0339693", "aliases": [], "types": ["T033"], "definition": "Paralysis of the iris and ciliary apparatus. [HPO:probinson]", "canonical_name": "Internal ophthalmoplegia"} {"concept_id": "C0339806", "aliases": ["Feather allergy", "Allergy to feathers"], "types": ["T046"], "canonical_name": "Feather allergy", "definition": "Hypersensitivity in form of an adverse immune reaction against feathers. []"} {"concept_id": "C0339808", "aliases": ["Dust mite allergy", "Allergy to dust mites", "Allergy to house dust mites"], "types": ["T047"], "definition": "Allergic rhinitis due to HOUSE DUST MITE ALLERGENS (e.g., Der p 1 of HOUSE DUST MITES) that is triggered by the immune system.", "canonical_name": "House dust mite allergy"} {"concept_id": "C0339848", "aliases": ["Fractured nose"], "types": ["T037"], "definition": "A partial or complete breakage of the nose. []", "canonical_name": "bone nose"} {"concept_id": "C0339850", "aliases": [], "types": ["T019"], "canonical_name": "Agenesis of the nasal bone"} {"concept_id": "C0339851", "aliases": ["Missing nasal bone"], "types": ["T033"], "canonical_name": "Absence of the nasal bone"} {"concept_id": "C0339864", "aliases": [], "types": ["T019"], "definition": "A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. [HPO:curators]", "canonical_name": "Bifid epiglottis"} {"concept_id": "C0339880", "aliases": [], "types": ["T047"], "definition": "Presence of a cyst (sac-like structure) located in the larynx. [HPO:probinson, PMID:24040590]", "canonical_name": "Laryngeal cyst"} {"concept_id": "C0339904", "aliases": ["Scleroderma lung disease", "Scleroderma of lung", "Bilateral basilar pulmonary fibrosis"], "types": ["T047"], "definition": "It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis. [PMID:7378088, RGD:gthayman]", "canonical_name": "Lung disease with systemic sclerosis"} {"concept_id": "C0340030", "aliases": [], "types": ["T047"], "definition": "Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). [ORCID:0000-0002-4095-8489, PMID:929215]", "canonical_name": "Pleural plaque"} {"concept_id": "C0340170", "aliases": [], "types": ["T047"], "definition": "This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and innthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis. [PMID:18195376]", "canonical_name": "Progressive massive fibrosis"} {"concept_id": "C0340213", "aliases": ["Tracheal diverticulosis", "Diverticulosis of trachea"], "types": ["T047"], "definition": "Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical). [PMID:18544671, PMID:27867581]", "canonical_name": "Tracheal diverticulum"} {"concept_id": "C0340220", "aliases": ["Tracheal hemorrhage"], "types": ["T046"], "definition": "Bleeding originating from the trachea.", "canonical_name": "Tracheal bleeding"} {"concept_id": "C0340231", "aliases": [], "types": ["T047"], "definition": "A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA and the BRONCHI. This results in a floppy non-rigid airway making patency difficult to maintain.", "canonical_name": "Tracheobronchomalacia"} {"concept_id": "C0340279", "aliases": [], "types": ["T047"], "definition": "general increase in bulk of the myocardium not due to tumor formation, nor to an increase in the number of cells, but due to chronic pressure overload; enlargement of the right ventricle of the heart is often attributed to pulmonary hypertension; enlargement of the left ventricle of the heart is attributed to sustained abnormal pressure or volume loads.", "canonical_name": "Ventricular hypertrophy"} {"concept_id": "C0340375", "aliases": ["Narrowing of blood vessel below aortic heart valve", "Subaortic stenosis"], "types": ["T047"], "definition": "An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.", "canonical_name": "Subvalvular aortic stenosis"} {"concept_id": "C0340477", "aliases": ["AV nodal reentry tachycardia"], "types": ["T047"], "definition": "Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove. []", "canonical_name": "Atrioventricular reentrant tachycardia"} {"concept_id": "C0340483", "aliases": [], "types": ["T047"], "definition": "An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction. [PMID:15831598]", "canonical_name": "Permanent junctional reciprocating tachycardia"} {"concept_id": "C0340537", "aliases": ["Fat embolism"], "types": ["T047"], "definition": "The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung. [ORCID:0000-0001-5208-3432, PMID:24468004]", "canonical_name": "Pulmonary fat embolism"} {"concept_id": "C0340548", "aliases": ["Pulmonary capillary hemangiomatosis"], "types": ["T047"], "canonical_name": "Pulmonary hemangiomas"} {"concept_id": "C0340625", "aliases": [], "types": ["T047"], "canonical_name": "Inferior mesenteric artery aneurysm"} {"concept_id": "C0340639", "aliases": [], "types": ["T190"], "definition": "A rare vascular anomaly characterized by dilation of the internal or the common carotid artery greater than 150% of the diameter of the normal, healthy vessel. Lesions of the carotid bifurcation are typically fusiform, degenerative in nature, and may occur bilaterally, while saccular aneurysms are usually unilateral and mostly located in the middle segment of the internal carotid artery. Symptomatic patients may present with a palpable pulsating mass, local pain, cerebral ischemia, peripheral nerve dysfunction, stridor, or voice changes due to local compression.", "canonical_name": "Carotid artery aneurysm"} {"concept_id": "C0340643", "aliases": ["Tear in inner wall of large artery that carries blood away from heart"], "types": ["T047"], "definition": "A progressive tear in the tissue lining the aorta, characterized by the passage of blood from the tunica intima into, and partially through, the tunica media.", "canonical_name": "Aortic dissection"} {"concept_id": "C0340647", "aliases": [], "types": ["T047"], "canonical_name": "Type B aortic dissection"} {"concept_id": "C0340648", "aliases": [], "types": ["T047"], "definition": "Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery. [HPO:probinson, PMID:20448134]", "canonical_name": "Coronary artery dissection"} {"concept_id": "C0340753", "aliases": [], "types": ["T046"], "definition": "A finding indicating narrowing of a vein in one or multiple areas.", "canonical_name": "Venous stenosis"} {"concept_id": "C0340803", "aliases": [], "types": ["T019"], "definition": "A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). [PMID:22483320, PMID:25864701]", "canonical_name": "Capillary malformation"} {"concept_id": "C0340854", "aliases": [], "types": ["T047"], "definition": "A condition in which neurally-mediated syncope occurs due to a specific circumstance, such as micturition, defecation, coughing, or traction of the hair. (ACC-AHA)", "canonical_name": "Situational syncope"} {"concept_id": "C0340971", "aliases": ["Autoimmune neutropenia"], "types": ["T047"], "definition": "A condition characterized by the autoantibody-induced destruction of neutrophils.", "canonical_name": "Neutropenia in presence of anti-neutropil antibodies"} {"concept_id": "C0341007", "aliases": ["Abnormality of gum ridge", "Abnormality of dentoalveolar ridges", "Abnormality of alveolar margin", "Defect in alveolar ridge"], "types": ["T047"], "definition": "Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth. [HPO:probinson]", "canonical_name": "Abnormality of the alveolar ridges"} {"concept_id": "C0341047", "aliases": ["Enlargement of parotid gland", "Hypertrophy of parotid gland", "Increased size of parotid gland"], "types": ["T047"], "definition": "Increased size of the parotid gland. [DDD:jclayton-smith]", "canonical_name": "Hyperplasia of parotid gland"} {"concept_id": "C0341059", "aliases": [], "types": ["T190"], "definition": "A depression located on a lip. [HPO:probinson]", "canonical_name": "Lip pit"} {"concept_id": "C0341266", "aliases": [], "types": ["T047"], "canonical_name": "Duodenal diverticula"} {"concept_id": "C0341276", "aliases": [], "types": ["T047"], "definition": "Inflammation of the lining of the middle section of the small intestine. [PMID:26420973]", "canonical_name": "Jejunitis"} {"concept_id": "C0341318", "aliases": [], "types": ["T190"], "definition": "An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin. [PMID:27247538]", "canonical_name": "Enterocutaneous fistula"} {"concept_id": "C0341335", "aliases": ["CMV colitis"], "types": ["T047"], "definition": "Inflammation of the colon that is caused by Cytomegalovirus.", "canonical_name": "Cytomegalovirus colitis"} {"concept_id": "C0341402", "aliases": [], "types": ["T046"], "definition": "An rupture in the rectal wall due to traumatic or pathologic processes.", "canonical_name": "Rectal perforation"} {"concept_id": "C0341531", "aliases": [], "types": ["T190"], "definition": "Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation. [PMID:32644551]", "canonical_name": "Infantile hydrocele"} {"concept_id": "C0341532", "aliases": [], "types": ["T047"], "definition": "A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it. [PMID:32644551]", "canonical_name": "Encysted hydrocele of the cord"} {"concept_id": "C0341676", "aliases": [], "types": ["T047"], "definition": "The presence of dilatation of the renal pelvis. [HPO:probinson]", "canonical_name": "Dilatation of the renal pelvis"} {"concept_id": "C0341698", "aliases": ["Renal atrophy"], "types": ["T047"], "definition": "Atrophy of the kidney. [HPO:probinson]", "canonical_name": "Kidney degeneration"} {"concept_id": "C0341703", "aliases": ["Renal Fanconi syndrome", "'de toni-fanconi-debre' syndrome"], "types": ["T047"], "definition": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", "canonical_name": "Renal tubular fanconi syndrome"} {"concept_id": "C0341706", "aliases": ["Glycinuria"], "types": ["T047"], "canonical_name": "High urine glycine levels"} {"concept_id": "C0341747", "aliases": [], "types": ["T047"], "definition": "A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. [PMID:26904418]", "canonical_name": "Detrusor sphincter dyssynergia"} {"concept_id": "C0341787", "aliases": ["Scrotal cleft", "Cleft of scrotum"], "types": ["T019"], "definition": "Midline indentation or cleft of the scrotum. [HPO:probinson, PMID:23650202]", "canonical_name": "Bifid scrotum"} {"concept_id": "C0341790", "aliases": ["Scrotum tumour", "Scrotum tumor", "Neoplasm of the scrotum"], "types": ["T191"], "definition": "A benign or malignant neoplasm that affects the scrotum.", "canonical_name": "Neoplasia of the scrotum"} {"concept_id": "C0342122", "aliases": ["Thyrotoxicosis with diffuse goitre"], "types": ["T047"], "canonical_name": "Thyrotoxicosis with diffuse goiter"} {"concept_id": "C0342190", "aliases": [], "types": ["T047"], "definition": "Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism).", "canonical_name": "Thyroid C cell hyperplasia"} {"concept_id": "C0342198", "aliases": [], "types": ["T047"], "definition": "Decreased response to thyroid hormones in the pituitary gland with normal response in peripheral tissues.", "canonical_name": "Pituitary resistance to thyroid hormone"} {"concept_id": "C0342205", "aliases": ["Uninodular goiter"], "types": ["T047"], "definition": "Nodular goiter characterized by one discrete tissue mass.", "canonical_name": "Uninodular goitre"} {"concept_id": "C0342208", "aliases": ["Multinodular goitre"], "types": ["T047"], "definition": "Nodular goiter characterized by more than one discrete tissue mass.", "canonical_name": "Multinodular goiter"} {"concept_id": "C0342273", "aliases": [], "types": ["T047"], "definition": "Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that resolves spontaneously within nine months of onset.", "canonical_name": "Transient neonatal diabetes mellitus"} {"concept_id": "C0342276", "aliases": ["Maturity-onset diabetes of the young", "Maturity onset diabetes of the young"], "types": ["T047"], "definition": "A rare autosomal dominant form of diabetes mellitus affecting young people with a positive family history. MODY is a form of monogenic diabetes, resulting from mutations in a single gene. The most common forms are HNF1alpha-MODY (MODY3) and GCK-MODY (MODY2), due to mutations in the HNF1A and GCK genes, respectively.", "canonical_name": "MODY"} {"concept_id": "C0342388", "aliases": ["Corticotropin deficiency", "Adrenocorticotropic hormone deficiency"], "types": ["T047"], "definition": "Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland.", "canonical_name": "ACTH deficiency"} {"concept_id": "C0342418", "aliases": [], "types": ["T019"], "definition": "A benign, disorganized mass of various mature cells, located heterotopically in the hypothalamus; it is often associated with endocrine and neurological conditions, such as precocious puberty and gelastic seizures.", "canonical_name": "Hypothalamic hamartoma"} {"concept_id": "C0342420", "aliases": ["Pituitary gland cyst"], "types": ["T033"], "definition": "A benign cyst located in the pituitary gland, containing fluid, tissue, or other material. It may be an incidental finding or present with headache, vision loss, or impaired pituitary gland function.", "canonical_name": "Cyst of the pituitary gland"} {"concept_id": "C0342422", "aliases": [], "types": ["T190"], "definition": "An abnormally increased size of the pituitary gland. [ORCID:0000-0001-5208-3432]", "canonical_name": "Enlarged pituitary gland"} {"concept_id": "C0342491", "aliases": [], "types": ["T033"], "canonical_name": "Small adrenal glands"} {"concept_id": "C0342495", "aliases": [], "types": ["T047"], "definition": "Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter.", "canonical_name": "Macronodular adrenal hyperplasia"} {"concept_id": "C0342526", "aliases": ["Aplasia of the testes", "Absent testis", "Absent testes"], "types": ["T033"], "definition": "Testis not palpable in the scrotum or inguinal canal. [HPO:probinson, PMID:23650202]", "canonical_name": "Absence of palpable testicules"} {"concept_id": "C0342527", "aliases": ["Androgen insufficiency"], "types": ["T047"], "definition": "Inadequate production of circulating testosterone.", "canonical_name": "Hypoandrogenism"} {"concept_id": "C0342541", "aliases": ["Premature pubarche"], "types": ["T047"], "definition": "The onset of growth of pubic hair at an earlier age than normal. [HPO:probinson]", "canonical_name": "Premature pubic hair growth"} {"concept_id": "C0342546", "aliases": [], "types": ["T047"], "definition": "Premature onset of adrenal androgen-mediated secondary sexual characteristics.", "canonical_name": "Premature adrenarche"} {"concept_id": "C0342554", "aliases": [], "types": ["T047"], "canonical_name": "Graves dermopathy"} {"concept_id": "C0342649", "aliases": [], "types": ["T047"], "definition": "Deposition of calcium into the blood vessel structures. Excessive calcification of the vessels is associated with ATHEROSCLEROTIC PLAQUES formation particularly after MYOCARDIAL INFARCTION (see MONCKEBERG MEDIAL CALCIFIC SCLEROSIS) and chronic kidney diseases which in turn increase VASCULAR STIFFNESS.", "canonical_name": "Vascular calcification"} {"concept_id": "C0342650", "aliases": [], "types": ["T047"], "definition": "Calcified deposits in soft tissue structures outside a joint. []", "canonical_name": "Periarticular calcification"} {"concept_id": "C0342678", "aliases": ["Increased tyrosine in urine"], "types": ["T047"], "definition": "An abnormally increased level of tyrosine in the urine. []", "canonical_name": "Tyrosinuria"} {"concept_id": "C0342739", "aliases": ["High urine trimethylamine levels"], "types": ["T047"], "definition": "Increased concentration of trimethylamine in the urine. [HPO:probinson]", "canonical_name": "Trimethylaminuria"} {"concept_id": "C0342785", "aliases": [], "types": ["T047"], "canonical_name": "Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency"} {"concept_id": "C0342883", "aliases": [], "types": ["T047"], "definition": "An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.", "canonical_name": "Hyperalphalipoproteinemia"} {"concept_id": "C0342892", "aliases": [], "types": ["T033"], "definition": "abnormally decreased amount of fat in the blood.", "canonical_name": "Hypolipidemia"} {"concept_id": "C0343065", "aliases": ["Dermatographic urticaria", "Dermographism", "Skin writing"], "types": ["T047"], "definition": "A raised, inflamed skin reaction to pressure from rubbing or scratching.", "canonical_name": "Dermatographism"} {"concept_id": "C0343073", "aliases": ["Kinked hair", "Wooly hair"], "types": ["T033"], "canonical_name": "Woolly hair", "definition": "The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. [PMID:20464096]"} {"concept_id": "C0343084", "aliases": [], "types": ["T047"], "definition": "A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE.", "canonical_name": "Systemic capillary leak syndrome"} {"concept_id": "C0343149", "aliases": ["Contractures involving the joints of the feet"], "types": ["T190"], "canonical_name": "Contractures of the foot joints"} {"concept_id": "C0343165", "aliases": [], "types": ["T047"], "definition": "Abnormal accumulation of fluid in or around the ankle joint. []", "canonical_name": "Ankle joint effusion"} {"concept_id": "C0343231", "aliases": ["Wrist ganglion"], "types": ["T047"], "definition": "A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule. [PMID:17488856, PMID:19468907]", "canonical_name": "Ganglion cyst of the wrist"} {"concept_id": "C0343292", "aliases": [], "types": ["T020"], "definition": "Usually mild scoliosis that disappears when the person bends forward or sideways. The spine is structurally normal.", "canonical_name": "Compensatory scoliosis"} {"concept_id": "C0343401", "aliases": ["MRSA infection"], "types": ["T047"], "definition": "A bacterial infection that is caused by Staphylococcus aureus that is not susceptible to methicillin.", "canonical_name": "Methicillin-resistant Staphylococcus aureus infection"} {"concept_id": "C0343494", "aliases": ["Rictus grin"], "types": ["T184"], "definition": "Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles. []", "canonical_name": "Risus sardonicus"} {"concept_id": "C0343643", "aliases": ["Facial papilloma", "Facial verruca"], "types": ["T047"], "canonical_name": "Facial wart"} {"concept_id": "C0343867", "aliases": ["Penile candidiasis"], "types": ["T047"], "definition": "Overgrowth of candida albicans in the penis. [PMID:27659805]", "canonical_name": "Penile thrush"} {"concept_id": "C0343900", "aliases": [], "types": ["T047"], "definition": "Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS. [PMID:30619685]", "canonical_name": "Disseminated histoplasmosis"} {"concept_id": "C0344159", "aliases": [], "types": ["T047"], "definition": "A form of anaphylaxis that is triggered by exposure to venom. [PMID:21458655]", "canonical_name": "Venom-induced anaphylaxis"} {"concept_id": "C0344168", "aliases": ["Drug-induced anaphylaxis"], "types": ["T047"], "definition": "A form of anaphylaxis that is triggered by intake of drugs or medications. [PMID:29135486]", "canonical_name": "Drug induced anaphylaxis"} {"concept_id": "C0344183", "aliases": [], "types": ["T047"], "definition": "Anaphylaxis after physical activity. [PMID:7400473]", "canonical_name": "Exercise induced anaphylaxis"} {"concept_id": "C0344232", "aliases": [], "types": ["T033"], "definition": "Blurred vision is the loss of visual acuity (sharpness of vision) resulting in a loss of ability to see small details. (from MedlinePlus Medical Encyclopedia)", "canonical_name": "Blurred vision"} {"concept_id": "C0344233", "aliases": [], "types": ["T033"], "canonical_name": "Blind spot"} {"concept_id": "C0344243", "aliases": [], "types": ["T047"], "definition": "Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. [HPO:probinson]", "canonical_name": "Seesaw nystagmus"} {"concept_id": "C0344247", "aliases": [], "types": ["T047"], "definition": "A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes. [PMID:18427617]", "canonical_name": "Dissociated horizontal deviation"} {"concept_id": "C0344262", "aliases": [], "types": ["T019"], "definition": "A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. [DDD:gblack]", "canonical_name": "Anterior lenticonus"} {"concept_id": "C0344263", "aliases": [], "types": ["T019"], "definition": "A conical projection of the posterior surface of the lens, occurring as a developmental anomaly. [DDD:gblack]", "canonical_name": "Posterior lenticonus"} {"concept_id": "C0344290", "aliases": ["Vitreoretinal degeneration", "Vitreoretinopathy"], "types": ["T047"], "definition": "Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. [HPO:probinson, ORCID:0000-0003-0986-4123, PMID:18179896]", "canonical_name": "Vitreoretinal abnormality"} {"concept_id": "C0344299", "aliases": [], "types": ["T047"], "definition": "A pale yellow discoloration of the temporal (lateral) portion of the optic disc. [HPO:probinson, PMID:19668477]", "canonical_name": "Temporal optic disc pallor"} {"concept_id": "C0344307", "aliases": ["Absence of pain sensation"], "types": ["T033"], "definition": "Inability to perceive painful stimuli. [HPO:probinson]", "canonical_name": "Pain insensitivity"} {"concept_id": "C0344312", "aliases": ["Poliosis of forelock hair", "White part of hair above forehead", "Poliosis of anterior hair"], "types": ["T033"], "definition": "A triangular depigmented region of white hairs located in the anterior midline of the scalp. [DDD:probinson]", "canonical_name": "White forelock"} {"concept_id": "C0344363", "aliases": [], "types": ["T046"], "definition": "An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord. [PMID:25184085]", "canonical_name": "Umbilical cord knot"} {"concept_id": "C0344386", "aliases": ["Schistocytes"], "types": ["T034"], "definition": "The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. [HPO:probinson]", "canonical_name": "Schistocytosis"} {"concept_id": "C0344391", "aliases": [], "types": ["T031"], "definition": "A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. [PMID:26079824]", "canonical_name": "Granular casts"} {"concept_id": "C0344431", "aliases": [], "types": ["T033"], "definition": "An electrocardiographic finding of a ventricular tachycardia in which the QRS complexes have a uniform morphology. (CDISC)", "canonical_name": "Monomorphic ventricular tachycardia"} {"concept_id": "C0344432", "aliases": [], "types": ["T047"], "definition": "A ventricular tachycardia that is irregular in rate and rhythm.", "canonical_name": "Polymorphic ventricular tachycardia"} {"concept_id": "C0344452", "aliases": [], "types": ["T191"], "definition": "A pituitary prolactin cell adenoma of less than 10 mm diameter. [HPO:probinson]", "canonical_name": "Microprolactinoma"} {"concept_id": "C0344453", "aliases": [], "types": ["T191"], "definition": "A pituitary prolactin cell adenoma of more than 10 mm diameter. [HPO:probinson]", "canonical_name": "Macroprolactinoma"} {"concept_id": "C0344482", "aliases": ["Hypoplastic corpus callosum", "Corpus callosum hypoplasia", "Hypoplasia of the corpus callosum", "Hypoplasia of corpus callosum"], "types": ["T019"], "definition": "Underdevelopment of the corpus callosum. [HPO:probinson, PMID:21263138]", "canonical_name": "Underdevelopment of part of brain called corpus callosum"} {"concept_id": "C0344484", "aliases": ["Spinal arachnoid cyst"], "types": ["T190"], "definition": "Presence of arachnoid cysts of the spinal canal extradurally in the epidural space. [HPO:probinson]", "canonical_name": "Epidural arachnoid cysts of the spinal canal"} {"concept_id": "C0344490", "aliases": ["Absence of the sacrum", "Sacral agenesis"], "types": ["T019"], "definition": "Absence (aplasia) of the sacrum. [HPO:probinson]", "canonical_name": "Absent sacrum"} {"concept_id": "C0344499", "aliases": ["Hypoplasia of eyelid", "Hypoplastic eyelid", "Underdevelopment of eyelid"], "types": ["T019"], "definition": "Developmental hypoplasia of the eyelid. [GOC:MG]", "canonical_name": "Hypoplasia of the eyelid"} {"concept_id": "C0344503", "aliases": [], "types": ["T019"], "definition": "Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva. [PMID:19125427]", "canonical_name": "Epiblepharon"} {"concept_id": "C0344505", "aliases": ["Absent tear secretion", "Absent lacrimal fluids", "Absence of tears in the eyes"], "types": ["T047"], "definition": "Absence of tear secretion. [HPO:probinson]", "canonical_name": "Alacrima"} {"concept_id": "C0344509", "aliases": [], "types": ["T019"], "canonical_name": "Agenesis of the lacrimal punctum"} {"concept_id": "C0344511", "aliases": ["Unopened tear duct", "Lacrimal duct atresia", "Nasolacrimal duct atresia"], "types": ["T019"], "definition": "A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. [HPO:probinson]", "canonical_name": "Imperforate nasolacrimal ducts"} {"concept_id": "C0344516", "aliases": [], "types": ["T019"], "definition": "A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence. [HPO:probinson]", "canonical_name": "Lens coloboma"} {"concept_id": "C0344523", "aliases": ["Cerulean cataract"], "types": ["T019"], "definition": "Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. [HPO:probinson, PMID:19496508, PMID:9158139]", "canonical_name": "Cataracts, congenital, cerulean"} {"concept_id": "C0344529", "aliases": ["Cornea plana"], "types": ["T019"], "definition": "Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. [HPO:probinson]", "canonical_name": "Flat cornea"} {"concept_id": "C0344531", "aliases": [], "types": ["T019"], "canonical_name": "Embryotoxon"} {"concept_id": "C0344539", "aliases": ["Underdeveloped iris", "Hypoplasia of the iris", "Hypoplastic iris"], "types": ["T019"], "definition": "Congenital underdevelopment of the iris. [HPO:probinson]", "canonical_name": "Iris hypoplasia"} {"concept_id": "C0344541", "aliases": [], "types": ["T019"], "definition": "A congenital abnormality of the eye caused by incomplete regression of the tunica vasculosa lentis, which is the vascular structure that nourishes the crystalline lens in utero.", "canonical_name": "Persistent pupillary membrane"} {"concept_id": "C0344544", "aliases": ["Polycoria"], "types": ["T019"], "definition": "Multiple pupils. [DDD:ncarter]", "canonical_name": "Multiple pupils"} {"concept_id": "C0344550", "aliases": ["Congenital retinal fold"], "types": ["T019"], "definition": "An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. [HPO:probinson]", "canonical_name": "Falciform retinal fold"} {"concept_id": "C0344559", "aliases": [], "types": ["T019"], "definition": "A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. [HPO:probinson]", "canonical_name": "Peters anomaly"} {"concept_id": "C0344612", "aliases": ["Abnormal atrioventricular connection"], "types": ["T019"], "definition": "An abnormality of the circulatory connection between atria and ventricles. [DDD:dbrown]", "canonical_name": "Abnormal atrioventricular connexion"} {"concept_id": "C0344615", "aliases": ["Discordant atrioventricular connexion"], "types": ["T019"], "definition": "Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart. [DDD:dbrown, HPO:probinson, PMID:23804932]", "canonical_name": "Discordant atrioventricular connection"} {"concept_id": "C0344616", "aliases": ["Congenitally corrected transposition of the great arteries"], "types": ["T019"], "definition": "A rare heart defect that occurs when the HEART VENTRICLES and attached valves, the MITRAL VALVE and the TRICUSPID VALVE are reversed so that the AORTA and the PULMONARY ARTERY are connected to the wrong ventricle. Although the heart valves and the two great arteries, the PULMONARY ARTERY and the AORTA are transposed, the blood flows to the correct place because the ventricles are also reversed and therefore corrects the transposition. It often occurs with other structural heart abnormalities.", "canonical_name": "L-transposition"} {"concept_id": "C0344617", "aliases": ["Ambiguous atrioventricular connection"], "types": ["T019"], "definition": "With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle). [DDD:dbrown, HPO:probinson]", "canonical_name": "Ambiguous atrioventricular connexion"} {"concept_id": "C0344621", "aliases": [], "types": ["T019"], "definition": "The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic. [DDD:dbrown, HPO:probinson]", "canonical_name": "Double inlet right ventricle"} {"concept_id": "C0344622", "aliases": [], "types": ["T019"], "definition": "The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual. [DDD:dbrown, HPO:probinson]", "canonical_name": "Double inlet left ventricle"} {"concept_id": "C0344624", "aliases": ["Absent right sided atrioventricular connection"], "types": ["T019"], "definition": "A defect where there is no connection between the right atrium and right ventricle. [PMID:7104116]", "canonical_name": "Absent right sided atrioventricular connexion"} {"concept_id": "C0344629", "aliases": ["Absent left sided atrioventricular connexion"], "types": ["T019"], "definition": "A defect where there is no connection between the left atrium and left ventricle. [PMID:7104116]", "canonical_name": "Absent left sided atrioventricular connection"} {"concept_id": "C0344644", "aliases": ["DORV with doubly committed VSD"], "types": ["T019"], "canonical_name": "Double outlet right ventricle, doubly committed ventricular septal defect"} {"concept_id": "C0344656", "aliases": [], "types": ["T019"], "definition": "Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium. [DDD:dbrown, PMID:17578953, PMID:19808620, PMID:20532458]", "canonical_name": "Absent right superior vena cava"} {"concept_id": "C0344659", "aliases": ["Bilateral SVC"], "types": ["T019"], "definition": "The presence of a left and a right superior vena cava. [PMID:18847480]", "canonical_name": "Bilateral superior vena cava"} {"concept_id": "C0344680", "aliases": ["Abnormal coronary sinus morphology"], "types": ["T019"], "definition": "An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium. [DDD:dbrown, HPO:probinson]", "canonical_name": "Abnormality of the coronary sinus"} {"concept_id": "C0344688", "aliases": [], "types": ["T019"], "definition": "A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver). [HPO:probinson]", "canonical_name": "Congenital portosystemic venous shunt"} {"concept_id": "C0344697", "aliases": ["Cor triatriatum dexter"], "types": ["T019"], "definition": "A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue. [DDD:dbrown, HPO:probinson, PMID:17948095]", "canonical_name": "Cor triatriatum dextrum"} {"concept_id": "C0344709", "aliases": [], "types": ["T019"], "canonical_name": "Dilated right atrium"} {"concept_id": "C0344722", "aliases": ["Abnormal atrial septum morphology", "Abnormal interatrial septum morphology"], "types": ["T019"], "definition": "An abnormality of the interatrial septum. [HPO:probinson]", "canonical_name": "Abnormality of the atrial septum"} {"concept_id": "C0344724", "aliases": ["Atrial septal defect, ostium secundum type", "Patent ostium secundum", "Secundum atrial septal defect"], "types": ["T019"], "definition": "A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. [DDD:dbrown, HPO:probinson]", "canonical_name": "Ostium secundum atrial septal defect"} {"concept_id": "C0344730", "aliases": [], "types": ["T019"], "definition": "An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting. [DDD:dbrown, HPO:probinson, PMID:16172274]", "canonical_name": "Sinus venosus atrial septal defect"} {"concept_id": "C0344735", "aliases": ["Primum atrial septal defect", "Septum primum defect", "Atrial septal defect, primum type"], "types": ["T019"], "definition": "An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. [DDD:dbrown, HPO:probinson]", "canonical_name": "Primum atrioventricular canal defect"} {"concept_id": "C0344745", "aliases": ["Unguarded tricuspid valve", "Unguarded tricuspid valve orifice"], "types": ["T019"], "definition": "A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue. [PMID:14246338, UToronto:chum]", "canonical_name": "Rudimentary tricuspid valve leaflets"} {"concept_id": "C0344760", "aliases": ["Mitral valve atresia"], "types": ["T019"], "definition": "A congenital heart defect characterized by the complete atresia of the mitral valve.", "canonical_name": "Mitral atresia"} {"concept_id": "C0344770", "aliases": [], "types": ["T019"], "definition": "The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue. [DDD:dbrown, HPO:probinson, PMID:20851840]", "canonical_name": "Double orifice mitral valve"} {"concept_id": "C0344881", "aliases": [], "types": ["T019"], "definition": "The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus. [HPO:probinson]", "canonical_name": "Tetralogy of Fallot with pulmonary stenosis"} {"concept_id": "C0344882", "aliases": [], "types": ["T019"], "definition": "An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries. [ORCID:0000-0001-5208-3432, PMID:22368654]", "canonical_name": "Tetralogy of Fallot with pulmonary atresia"} {"concept_id": "C0344887", "aliases": ["Abnormality of the right ventricle", "Abnormal right ventricle morphology"], "types": ["T019"], "definition": "An abnormality of the right ventricle of the heart. [HPO:probinson]", "canonical_name": "Right ventricular abnormality"} {"concept_id": "C0344893", "aliases": ["Dilated heart right ventricle"], "types": ["T019"], "definition": "Enlargement of the chamber of the right ventricle. [HPO:probinson, PMID:17715105]", "canonical_name": "Right ventricular dilatation"} {"concept_id": "C0344905", "aliases": ["Abnormal heart left ventricle morphology", "Abnormal left ventricle morphology", "Left ventricular abnormality"], "types": ["T019"], "definition": "Any structural abnormality of the left ventricle of the heart. [HPO:probinson]", "canonical_name": "Abnormality of the left ventricle"} {"concept_id": "C0344906", "aliases": ["Heart left ventricle hypoplasia"], "types": ["T019"], "canonical_name": "Left ventricular hypoplasia"} {"concept_id": "C0344916", "aliases": ["Abnormality of the left ventricular outflow tract"], "types": ["T019"], "definition": "An abnormality of the outflow tract of the left ventricle. [HPO:probinson]", "canonical_name": "Abnormal left ventricular outflow tract morphology"} {"concept_id": "C0344924", "aliases": [], "types": ["T019"], "definition": "Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD. [DDD:dbrown, PMID:10798413]", "canonical_name": "Restrictive ventricular septal defect"} {"concept_id": "C0344925", "aliases": ["Ventricular septal defect, perimembranous", "Paramembranous ventricular septal defect", "Perimembraneous ventricular septal defect", "Perimembranous ventricular septal defect", "Type 2 ventricular septal defect", "Membranous ventricular septal defect"], "types": ["T019"], "definition": "A congenital heart defect resulting from deficient growth or failure of fusion of the membranous component of the ventricular septum.", "canonical_name": "Conoventricular ventricular septal defect"} {"concept_id": "C0344954", "aliases": [], "types": ["T047"], "definition": "A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion. []", "canonical_name": "Ventricular septal aneurysm"} {"concept_id": "C0344955", "aliases": ["Thickened interventricular septum"], "types": ["T033"], "definition": "The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. [http://www.heart.org/HEARTORG/Conditions/More/Cardiomyopathy/Hypertrophic-Cardiomyopathy_UCM_444317_Article.jsp#.WmePRJM-dL4, PMID:21349577]", "canonical_name": "Ventricular septal hypertrophy"} {"concept_id": "C0344963", "aliases": [], "types": ["T047"], "definition": "A rare congenital cardiovascular disorder characterized by severe underdevelopment of the right side of the heart. The infants develop cyanosis shortly after birth. It is a condition that requires immediate emergency treatment.", "canonical_name": "Hypoplastic right heart syndrome"} {"concept_id": "C0344987", "aliases": [], "types": ["T019"], "definition": "The presence of a bicuspid pulmonary valve. [HPO:probinson]", "canonical_name": "Bicuspid pulmonary valve"} {"concept_id": "C0345001", "aliases": [], "types": ["T019"], "definition": "The presence of an aortic valve with one instead of the normal three cusps (flaps). [HPO:probinson, PMID:18480095, PMID:20329493]", "canonical_name": "Unicuspid aortic valve"} {"concept_id": "C0345002", "aliases": [], "types": ["T019"], "definition": "Congenital malformation where the AORTIC VALVE has four instead of three cusps. It is often associated with AORTIC REGURGITATION and AORTIC VALVE STENOSIS.", "canonical_name": "Quadricuspid aortic valve"} {"concept_id": "C0345030", "aliases": ["peripheral pulmonary stenosis", "Peripheral pulmonary artery stenosis", "Narrowing of peripheral lung artery"], "types": ["T047"], "definition": "Stenosis of a peripheral branch of the pulmonary artery. [HPO:probinson]", "canonical_name": "Peripheral pulmonic stenosis"} {"concept_id": "C0345037", "aliases": [], "types": ["T019"], "definition": "The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. [DDD:dbrown]", "canonical_name": "Anomalous origin of right pulmonary artery from ascending aorta"} {"concept_id": "C0345040", "aliases": [], "types": ["T019"], "definition": "The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. [DDD:dbrown]", "canonical_name": "Anomalous origin of left pulmonary artery from ascending aorta"} {"concept_id": "C0345049", "aliases": ["Ascending aorta dilation", "Ascending aortic dilation"], "types": ["T190"], "canonical_name": "Dilatation of ascending aorta"} {"concept_id": "C0345054", "aliases": ["Left ventricle to aorta tunnel"], "types": ["T019"], "definition": "Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity. [PMID:26085759]", "canonical_name": "Aorto-left ventricular tunnel"} {"concept_id": "C0345055", "aliases": ["Aorto-right ventricular tunnel"], "types": ["T019"], "definition": "The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle. [PMID:27525240]", "canonical_name": "Right ventricle to aorta tunnel"} {"concept_id": "C0345065", "aliases": [], "types": ["T019"], "definition": "The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta. [DDD:dbrown]", "canonical_name": "Cervical aortic arch"} {"concept_id": "C0345088", "aliases": [], "types": ["T019"], "definition": "Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum. [HPO:probinson, PMID:17593995, PMID:18651460]", "canonical_name": "Pseudocoarctation of the aorta"} {"concept_id": "C0345092", "aliases": [], "types": ["T019"], "definition": "Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus. [DDD:dbrown]", "canonical_name": "Interrupted aortic arch type A"} {"concept_id": "C0345093", "aliases": ["Interrupted aortic arch, type b"], "types": ["T019"], "definition": "Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries. [DDD:dbrown]", "canonical_name": "Interrupted aortic arch type B"} {"concept_id": "C0345094", "aliases": [], "types": ["T019"], "definition": "Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries. [DDD:dbrown]", "canonical_name": "Interrupted aortic arch type C"} {"concept_id": "C0345122", "aliases": ["Anomalous coronary artery course"], "types": ["T019"], "definition": "An abnormal path of a coronary artery. [DDD:dbrown]", "canonical_name": "Abnormal coronary artery course"} {"concept_id": "C0345140", "aliases": ["Congenital absence of the pericardium", "Total absence of the pericardium"], "types": ["T019"], "definition": "No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy. [DDD:dbrown]", "canonical_name": "Absent pericardium"} {"concept_id": "C0345200", "aliases": [], "types": ["T019"], "definition": "Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. [HPO:probinson]", "canonical_name": "Small intestinal dysmotility"} {"concept_id": "C0345217", "aliases": [], "types": ["T019"], "definition": "Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus. [HPO:probinson]", "canonical_name": "Cloacal exstrophy"} {"concept_id": "C0345240", "aliases": [], "types": ["T019"], "definition": "A complete lack of ganglia in the intestine. This is an extremely severe form of Hirschsprung Disease.", "canonical_name": "Total intestinal aganglionosis"} {"concept_id": "C0345282", "aliases": ["Hypoplasia of the gallbladder"], "types": ["T019"], "definition": "The presence of a hypoplastic gallbladder. [HPO:probinson]", "canonical_name": "Hypoplastic gallbladder"} {"concept_id": "C0345286", "aliases": ["Anomalous liver lobulation", "Abnormal liver lobulation"], "types": ["T019"], "definition": "Formation of abnormal lobules (small masses of tissue) in the liver. [HPO:probinson]", "canonical_name": "Hepatic anomalous lobulation"} {"concept_id": "C0345309", "aliases": ["Hypoplasia of the vagina", "Hypoplastic vagina"], "types": ["T019"], "definition": "A congenital defect in which the vagina is underdeveloped.", "canonical_name": "Underdeveloped vagina"} {"concept_id": "C0345322", "aliases": ["Bifid penis", "Diphallia"], "types": ["T019"], "definition": "Two penile structures, separated from the tip to the base of the shaft. [HPO:sdoelken, PMID:23650202]", "canonical_name": "Penile duplication"} {"concept_id": "C0345326", "aliases": [], "types": ["T019"], "definition": "Phimosis that is present since birth.", "canonical_name": "Phimosis"} {"concept_id": "C0345344", "aliases": [], "types": ["T019"], "definition": "Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus. [Eurenomics:ewuehl]", "canonical_name": "Urachus fistula"} {"concept_id": "C0345345", "aliases": ["Absent urethral opening", "Urethral atresia"], "types": ["T019"], "definition": "Congenital anomaly characterized by closure or failure to develop an opening in the urethra. [HPO:probinson]", "canonical_name": "Urethral opening absent"} {"concept_id": "C0345354", "aliases": ["Polydactyly, preaxial"], "types": ["T019"], "definition": "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. [HPO:probinson]", "canonical_name": "Preaxial polydactyly"} {"concept_id": "C0345371", "aliases": ["Underdeveloped lower limb bones", "Lower limb undergrowth", "Hypoplasia involving bones of the lower limbs"], "types": ["T019"], "definition": "Leg shortening because of underdevelopment of one or more bones of the lower extremity. [HPO:probinson]", "canonical_name": "Hypoplasia of the lower limbs"} {"concept_id": "C0345375", "aliases": ["Short femurs", "Femoral hypoplasia", "Hypoplasia of the femora", "Short thighbone"], "types": ["T019"], "definition": "An abnormal shortening of the femur. [HPO:probinson]", "canonical_name": "Short femur"} {"concept_id": "C0345392", "aliases": [], "types": ["T019"], "canonical_name": "Congenital kyphoscoliosis"} {"concept_id": "C0345394", "aliases": ["Vertebral hypoplasia"], "types": ["T019"], "definition": "Small, underdeveloped vertebral bodies. [HPO:probinson]", "canonical_name": "Underdeveloped vertebrae"} {"concept_id": "C0345397", "aliases": ["Extra ribs"], "types": ["T019"], "definition": "The presence of more than the usual or expected number of thoracic ribs.", "canonical_name": "Supernumerary ribs"} {"concept_id": "C0345419", "aliases": [], "types": ["T019"], "definition": "A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. [PMID:22483320, PMID:25864701]", "canonical_name": "Cutis marmorata telangiectatica congenita"} {"concept_id": "C0345617", "aliases": ["Middle ear tumor", "Middle ear tumour", "Neoplasm of the middle ear"], "types": ["T191"], "definition": "A benign or malignant neoplasm that affects the middle ear. Representative examples include adenoma, paraganglioma, and carcinoma.", "canonical_name": "Neoplasia of the middle ear"} {"concept_id": "C0345832", "aliases": ["Neoplasm of the small intestine", "Small intestine tumor"], "types": ["T191"], "definition": "A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.", "canonical_name": "Small intestine tumour"} {"concept_id": "C0345883", "aliases": ["Anal canal tumour", "Anal canal tumor"], "types": ["T191"], "canonical_name": "Anal canal neoplasm"} {"concept_id": "C0345893", "aliases": ["Juvenile gastrointestinal polyposis"], "types": ["T191"], "definition": "An autosomal dominant hereditary neoplastic syndrome. Mutations in the SMAD4 or BMPR1A genes have been identified in some patients. It is characterized by the presence of multiple juvenile polyps in the gastrointestinal tract.", "canonical_name": "Juvenile GI polyposis"} {"concept_id": "C0345904", "aliases": [], "types": ["T191"], "definition": "Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Primary liver cancer starts in the liver. Metastatic liver cancer starts somewhere else and spreads to your liver.
Risk factors for primary liver cancer include
Symptoms can include a lump or pain on the right side of your abdomen and yellowing of the skin. However, you may not have symptoms until the cancer is advanced. This makes it harder to treat. Doctors use tests that examine the liver and the blood to diagnose liver cancer. Treatment options include surgery, radiation, chemotherapy, or liver transplantation.
NIH: National Cancer Institute
", "canonical_name": "Liver cancer"} {"concept_id": "C0345958", "aliases": [], "types": ["T191"], "definition": "An undifferentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular, squamous, or neuroendocrine differentiation.", "canonical_name": "Large cell lung carcinoma"} {"concept_id": "C0345967", "aliases": [], "types": ["T191"], "definition": "A type of mesothelioma with a tendency to metastasize. Most tumors originate from either the PLEURA or PERITONEUM, tumors may also originate in the PERICARDIUM or testicular tissue. It is associated with ASBESTOS exposure. Somatic mutations identified in WT1, BCL10, CDKN2A, NF2, and BAP1 genes are associated with the malignancy. OMIM: 156240.", "canonical_name": "Malignant mesothelioma"} {"concept_id": "C0345988", "aliases": ["Skin adnexal neoplasm", "Skin adnexal tumor", "Skin adnexal tumour"], "types": ["T191"], "definition": "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.", "canonical_name": "Skin appendage neoplasm"} {"concept_id": "C0345996", "aliases": ["Milia", "Millium cyst"], "types": ["T190"], "definition": "Small (one to two mm), firm, white cysts on the skin.", "canonical_name": "Milk spot"} {"concept_id": "C0345998", "aliases": [], "types": ["T047"], "definition": "A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge. []", "canonical_name": "Eruptive vellus hair cyst"} {"concept_id": "C0346006", "aliases": ["Follicular infundibulum tumor", "Basal cell hamartoma with follicular differentiation"], "types": ["T191"], "definition": "A tumor involving the follicular infundibulum.", "canonical_name": "Follicular infundibulum tumour"} {"concept_id": "C0346011", "aliases": ["Fibrofolliculoma"], "types": ["T191"], "definition": "A rare, pilar-associated mesenchyme neoplasm with follicular differentiation. It usually occurs in the face, neck, and chest. It presents as a dome-shaped papular lesion. It is composed of epithelial and mesenchymal cells. Patients with Birt-Hogg-Dube syndrome may develop follicular fibromas.", "canonical_name": "Fibrofolliculomas"} {"concept_id": "C0346037", "aliases": [], "types": ["T191"], "definition": "A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.", "canonical_name": "Acral lentiginous melanoma"} {"concept_id": "C0346054", "aliases": [], "types": ["T191"], "definition": "A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.", "canonical_name": "Verruciform xanthoma"} {"concept_id": "C0346064", "aliases": ["Cutaneous leiomyomata", "Cutaneous leiomyoma"], "types": ["T191"], "definition": "A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "canonical_name": "Cutaneous leiomyomas"} {"concept_id": "C0346067", "aliases": [], "types": ["T191"], "definition": "A rare, mitotically active spindle cell neoplasm arising from the smooth muscle in the dermis. It has an excellent prognosis, as compared to the deep soft tissue leiomyosarcomas.", "canonical_name": "Cutaneous leiomyosarcoma"} {"concept_id": "C0346073", "aliases": ["Tufted hemangioma", "Tufted angioma", "Angioblastoma", "Progressive capillary hemangioma", "Angioblastoma of Nakagawa"], "types": ["T191"], "definition": "A capillary hemangioma of the skin usually presenting with patches or plaques.", "canonical_name": "Hypertrophic hemangioma"} {"concept_id": "C0346099", "aliases": ["Speckled lentiginous Nevus"], "types": ["T191"], "definition": "A melanocytic nevus that contains a variable number of darkly pigmented macules and papules.", "canonical_name": "Nevus spilus"} {"concept_id": "C0346109", "aliases": [], "types": ["T191"], "definition": "An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.", "canonical_name": "Peritoneal mesothelioma"} {"concept_id": "C0346170", "aliases": [], "types": ["T191"], "definition": "A benign, usually bilateral neoplasm of the ovary characterized by the presence of cystic structures that contain watery fluid and are lined by serous epithelial cells. Signs and symptoms include abdominal enlargement, pain, and vaginal bleeding.", "canonical_name": "Ovarian serous cystadenoma"} {"concept_id": "C0346175", "aliases": ["Malignant ovarian granulosa cell tumour"], "types": ["T191"], "definition": "An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.", "canonical_name": "Malignant ovarian granulosa cell tumor"} {"concept_id": "C0346210", "aliases": [], "types": ["T191"], "definition": "Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. It includes vulvar squamous intraepithelial lesion, HPV-associated and vulvar intraepithelial neoplasia, HPV-independent.", "canonical_name": "Vulvar intraepithelial neoplasia"} {"concept_id": "C0346239", "aliases": [], "types": ["T191"], "definition": "A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.", "canonical_name": "Epididymal neoplasm"} {"concept_id": "C0346251", "aliases": [], "types": ["T191"], "definition": "A sarcoma that arises from the kidney.", "canonical_name": "Renal sarcoma"} {"concept_id": "C0346253", "aliases": ["Renal cortical adenoma"], "types": ["T191"], "definition": "The presence of an adenoma in the cortex of the kidney. [HPO:probinson]", "canonical_name": "Kidney cortical adenoma"} {"concept_id": "C0346255", "aliases": [], "types": ["T191"], "definition": "A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions.", "canonical_name": "Renal oncocytoma"} {"concept_id": "C0346269", "aliases": ["Polyp of the ureter", "Ureter polyp"], "types": ["T191"], "definition": "An exophytic and polypoid lesion attached to the ureter by a broad base or a thin stalk.", "canonical_name": "Ureteral polyp"} {"concept_id": "C0346300", "aliases": [], "types": ["T191"], "definition": "Pituitary neuroendocrine tumor that has spread from its original site of growth to another anatomic site.", "canonical_name": "Pituitary carcinoma"} {"concept_id": "C0346306", "aliases": [], "types": ["T191"], "definition": "A pituitary adenoma that is less than 10 mm in diameter. [PMID:32119338]", "canonical_name": "Pituitary microadenoma"} {"concept_id": "C0346308", "aliases": ["Pituitary macroadenoma"], "types": ["T191"], "definition": "A pituitary gland adenoma with a diameter greater than 10 mm. Clinical manifestations include headache, visual field disturbances, pituitary insufficiency, and mild hyperprolactinemia.", "canonical_name": "Pituitary gland macroadenoma"} {"concept_id": "C0346326", "aliases": ["Optic glioma"], "types": ["T191"], "definition": "Glial cell derived tumors arising from the optic nerve, usually presenting in childhood.", "canonical_name": "Optic nerve glioma"} {"concept_id": "C0346328", "aliases": [], "types": ["T191"], "definition": "A meningioma that arises from the sheath of the optic nerve.", "canonical_name": "Optic nerve sheath meningioma"} {"concept_id": "C0346373", "aliases": [], "types": ["T191"], "definition": "A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi.", "canonical_name": "Iris melanoma"} {"concept_id": "C0346376", "aliases": ["Iris nevus"], "types": ["T191"], "definition": "A benign nevus that arises from the iris. Only a small percentage of cases progress to iris melanoma.", "canonical_name": "Eye freckle"} {"concept_id": "C0346379", "aliases": [], "types": ["T191"], "definition": "A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor.", "canonical_name": "Ciliary body melanoma"} {"concept_id": "C0346388", "aliases": [], "types": ["T191"], "definition": "A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis.", "canonical_name": "Choroidal melanoma"} {"concept_id": "C0346390", "aliases": [], "types": ["T191"], "definition": "A hemangioma arising from the choroid.", "canonical_name": "Choroidal hemangioma"} {"concept_id": "C0346392", "aliases": [], "types": ["T191"], "definition": "A benign nevus that arises from the choroid. Only a small percentage of cases progress to choroid melanoma.", "canonical_name": "Choroidal nevus"} {"concept_id": "C0346647", "aliases": ["Cancer of the pancreas"], "types": ["T191"], "definition": "A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma.", "canonical_name": "Pancreatic cancer"} {"concept_id": "C0347129", "aliases": [], "types": ["T191"], "definition": "A precancerous neoplastic intraepithelial process involving either the squamous and transitional zones of the anal canal or the perianal skin (anal margin).", "canonical_name": "Anal intraepithelial neoplasia"} {"concept_id": "C0347418", "aliases": ["Fatty tumors on the eyelids", "Lipomas of eyelids"], "types": ["T191"], "definition": "Fatty tumors on the eyelids. [ORCID:0000-0003-0986-4123]", "canonical_name": "Fatty tumours on the eyelids"} {"concept_id": "C0347509", "aliases": ["Benign neoplasm of the central nervous system"], "types": ["T191"], "canonical_name": "Benign neoplasm of the CNS"} {"concept_id": "C0347515", "aliases": [], "types": ["T191"], "definition": "A meningioma that affects the spinal cord.", "canonical_name": "Spinal meningioma"} {"concept_id": "C0347646", "aliases": ["Perforation of the colon"], "types": ["T047"], "definition": "A rupture in the colonic wall due to traumatic or pathologic processes.", "canonical_name": "Colon perforation"} {"concept_id": "C0347780", "aliases": ["bone thoracic vertebra"], "types": ["T037"], "definition": "A partial or complete breakage of the thoracic vertebra. []", "canonical_name": "Fractured thoracic vertebra"} {"concept_id": "C0347805", "aliases": ["Fractured ilium"], "types": ["T037"], "definition": "A traumatic break in the ilium bone.", "canonical_name": "bone ilium"} {"concept_id": "C0347813", "aliases": ["Fractured talus"], "types": ["T037"], "definition": "A partial or complete breakage of the talus. []", "canonical_name": "bone talus"} {"concept_id": "C0347944", "aliases": [], "types": ["T033"], "definition": "A benign or malignant tumor-like pathologic process involving the organs and structures in the pelvis.", "canonical_name": "Pelvic mass"} {"concept_id": "C0347959", "aliases": ["Lacticacidemia", "Lactic acidemia", "Increased lactate in body"], "types": ["T047"], "canonical_name": "Hyperlacticacidemia"} {"concept_id": "C0348023", "aliases": [], "types": ["T019"], "canonical_name": "Spinal arteriovenous malformation"} {"concept_id": "C0348374", "aliases": ["Malignant neoplasm of the CNS"], "types": ["T191"], "definition": "A primary or metastatic malignant neoplasm involving the brain or spinal cord. Representative examples include anaplastic astrocytoma, glioblastoma, anaplastic (malignant) meningioma, lymphoma, and metastatic carcinoma from another anatomic site.", "canonical_name": "Malignant neoplasm of the central nervous system"} {"concept_id": "C0349245", "aliases": [], "types": ["T048"], "definition": "Seizures caused by psychological factors without electrophysiological epileptic changes.", "canonical_name": "Pseudoseizure"} {"concept_id": "C0349391", "aliases": [], "types": ["T048"], "canonical_name": "Verbal dyspraxia"} {"concept_id": "C0349476", "aliases": ["Congenital goitre"], "types": ["T047"], "definition": "An enlargement of the thyroid gland with congenital onset. [HPO:probinson]", "canonical_name": "Congenital goiter"} {"concept_id": "C0349506", "aliases": ["Photosensitive skin", "Sun sensitivity", "Photosensitive skin rashes", "Photosensitivity", "Cutaneous photosensitivity", "Sensitivity to sunlight"], "types": ["T046"], "definition": "Increased sensitivity of the skin to light exposure.", "canonical_name": "Skin photosensitivity"} {"concept_id": "C0349532", "aliases": ["Gastric lymphoma"], "types": ["T191"], "definition": "An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.", "canonical_name": "Primary gastric lymphoma"} {"concept_id": "C0349561", "aliases": [], "types": ["T191"], "definition": "A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma.", "canonical_name": "Bartholin gland carcinoma"} {"concept_id": "C0349566", "aliases": [], "types": ["T191"], "definition": "A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.", "canonical_name": "Squamous cell carcinoma of the tongue"} {"concept_id": "C0349588", "aliases": ["Small stature", "Height less than 3rd percentile", "Short stature", "Decreased body height"], "types": ["T033"], "definition": "Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.", "canonical_name": "Stature below 3rd percentile"} {"concept_id": "C0349604", "aliases": [], "types": ["T191"], "definition": "A meningioma that arises within the cranial cavity.", "canonical_name": "Intracranial meningioma"} {"concept_id": "C0349606", "aliases": ["Central nervous system cyst", "Cyst of the central nervous system"], "types": ["T047"], "definition": "Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement.", "canonical_name": "CNS cyst"} {"concept_id": "C0349636", "aliases": ["B Acute Lymphoblastic Leukaemia", "Pre-B-cell acute lymphoblastic leukemia", "B Acute Lymphoblastic Leukemia"], "types": ["T191"], "definition": "A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood. [NCIT:C8644]", "canonical_name": "Pre-B-cell acute lymphoblastic leukaemia"} {"concept_id": "C0349639", "aliases": ["Juvenile myelomonocytic leukaemia"], "types": ["T191"], "definition": "A leukemia affecting young children characterized by SPLENOMEGALY, enlarged lymph nodes, rashes, and hemorrhages. Traditionally classed as a myeloproliferative disease, it is now considered a mixed myeloproliferative-mylelodysplastic disorder.", "canonical_name": "Juvenile myelomonocytic leukemia"} {"concept_id": "C0349658", "aliases": [], "types": ["T191"], "definition": "A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty.", "canonical_name": "Trichoepithelioma"} {"concept_id": "C0349702", "aliases": [], "types": ["T033"], "definition": "Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea.", "canonical_name": "Corneal scarring"} {"concept_id": "C0349705", "aliases": ["Abnormal Hb", "Abnormal hemoglobin"], "types": ["T033"], "definition": "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. [HPO:probinson]", "canonical_name": "Abnormal haemoglobin"} {"concept_id": "C0349752", "aliases": [], "types": ["T047"], "definition": "Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation. [ORCID:0000-0002-4095-8489, PMID:9172037]", "canonical_name": "Pulmonary air embolism"} {"concept_id": "C0362030", "aliases": [], "types": ["T047"], "definition": "A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings.", "canonical_name": "Verrucous epidermal nevus"} {"concept_id": "C0370152", "aliases": [], "types": ["T031"], "definition": "A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts. [PMID:26079824]", "canonical_name": "Waxy casts"} {"concept_id": "C0375206", "aliases": ["Paralysis or weakness of one side of body"], "types": ["T047"], "canonical_name": "Hemiplegia/hemiparesis", "definition": "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. [HPO:curators]"} {"concept_id": "C0375511", "aliases": ["Prominence of cheekbone", "Malar hypertrophy", "Cheekbone prominence", "Pronounced cheekbone"], "types": ["T190"], "canonical_name": "Prominence of the zygomatic bone", "definition": "Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'. [ORCID:0000-0001-5889-4463, PMID:19125436]"} {"concept_id": "C0376175", "aliases": ["Facial palsy, unilateral or bilateral", "VII th cranial nerve palsy", "Facial nerve paralysis", "Seventh cranial nerve palsy", "Facial palsy", "Facial nerve palsy", "Cranial nerve VII palsy"], "types": ["T047"], "definition": "A syndrome characterized by the acute onset of unilateral FACIAL PARALYSIS which progresses over a 2-5 day period. Weakness of the orbicularis oculi muscle and resulting incomplete eye closure may be associated with corneal injury. Pain behind the ear often precedes the onset of paralysis. This condition may be associated with HERPESVIRUS 1, HUMAN infection of the facial nerve. (Adams et al., Principles of Neurology, 6th ed, p1376)", "canonical_name": "Bell's palsy"} {"concept_id": "C0376358", "aliases": ["Prostate cancer"], "types": ["T191"], "definition": "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.", "canonical_name": "Prostatic cancer"} {"concept_id": "C0376480", "aliases": [], "types": ["T033"], "definition": "Excessive growth of the gingiva either by an increase in the size of the constituent cells (GINGIVAL HYPERTROPHY) or by an increase in their number (GINGIVAL HYPERPLASIA). (From Jablonski's Dictionary of Dentistry, 1992, p574)", "canonical_name": "Gingival overgrowth"} {"concept_id": "C0376545", "aliases": ["Hematological neoplasm", "Haematological neoplasm", "Blood cancer", "Blood tumour"], "types": ["T191"], "definition": "Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). The commonest forms are the various types of LEUKEMIA, of LYMPHOMA, and of the progressive, life-threatening forms of the MYELODYSPLASTIC SYNDROMES.", "canonical_name": "Blood tumor"} {"concept_id": "C0376628", "aliases": ["Chromosome breakage", "Tendency to chromosomal breakage", "Increased chromosomal breakage rate", "High frequency of chromosome breaks in lymphocytes", "Increased chromosomal breakage"], "types": ["T049"], "definition": "A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.", "canonical_name": "Multiple chromosomal breaks"} {"concept_id": "C0391826", "aliases": ["Lhermitte-Duclos disease", "LDD"], "types": ["T191"], "definition": "A benign, WHO grade I cerebellar mass, which occurs in young adults and is composed of dysplastic ganglion cells. It is the major CNS manifestation of Cowden disease, an autosomal dominant condition that causes a variety of hamartomas and neoplasms.", "canonical_name": "Dysplastic gangliocytoma of the cerebellum"} {"concept_id": "C0391870", "aliases": ["Abnormal erythrocyte morphology", "Abnormality of erythrocytes"], "types": ["T033"], "definition": "Any structural abnormality of erythrocytes (red-blood cells). [HPO:probinson]", "canonical_name": "Abnormality of red blood cells"} {"concept_id": "C0392005", "aliases": ["Bilateral cheiloschisis", "Both sided cleft lip", "Bilateral cleft lip"], "types": ["T019"], "definition": "A non-midline cleft of the upper lip on the left and right sides. [HPO:probinson]", "canonical_name": "Right and left cleft lip"} {"concept_id": "C0392006", "aliases": ["One sided cleft upper lip", "Unilateral cheiloschisis", "Unilateral cleft upper lip"], "types": ["T019"], "canonical_name": "Unilateral cleft lip", "definition": "A non-midline cleft of the upper lip on one side only. [HPO:probinson]"} {"concept_id": "C0392039", "aliases": [], "types": ["T033"], "canonical_name": "Enlarged ovaries"} {"concept_id": "C0392156", "aliases": [], "types": ["T184"], "definition": "An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications.", "canonical_name": "Akathisia"} {"concept_id": "C0392163", "aliases": ["Corneal erosion"], "types": ["T047"], "definition": "An erosion or abrasion of the cornea's outermost layer of epithelial cells. [HPO:sdoelken]", "canonical_name": "Damage to outer layer of the cornea of the eye"} {"concept_id": "C0392178", "aliases": ["Urinary lipid excretion"], "types": ["T033"], "definition": "An increased lipid content in the urine. [ORCID:0000-0001-9969-8610, PMID:26124059, PMID:29950951]", "canonical_name": "Lipiduria"} {"concept_id": "C0392185", "aliases": [], "types": ["T033"], "definition": "Repetition of one's own words or phrases. [PMID:27527544]", "canonical_name": "Palilalia"} {"concept_id": "C0392188", "aliases": ["Abnormal rapid eye movement sleep"], "types": ["T033"], "definition": "Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements. [HPO:curators]", "canonical_name": "Abnormal REM sleep"} {"concept_id": "C0392464", "aliases": [], "types": ["T047"], "definition": "A bulge or ballooning in the wall of the ventricle of the heart. (ACC)", "canonical_name": "Ventricular aneurysm"} {"concept_id": "C0392476", "aliases": ["Abnormal development of the ends of long bones in arms and legs"], "types": ["T019"], "canonical_name": "Epiphyseal dysplasia"} {"concept_id": "C0392482", "aliases": ["Single atrium"], "types": ["T019"], "definition": "Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. [DDD:dbrown, HPO:probinson]", "canonical_name": "Common atrium"} {"concept_id": "C0392525", "aliases": ["Kidney stones", "Renal calculi", "Nephrolithiasis"], "types": ["T047"], "definition": "Formation of stones in the KIDNEY.", "canonical_name": "Renal stones"} {"concept_id": "C0392531", "aliases": ["Torsion of appendix of testis"], "types": ["T190"], "definition": "The appendix testis or hydatid of Morgagni, is a vestigial remnant of the M\u00fcllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention. [ORCID:0000-0002-8169-9049, PMID:31550101]", "canonical_name": "Twisted vestigial remnant of the Muellerian duct"} {"concept_id": "C0392533", "aliases": [], "types": ["T190"], "canonical_name": "Gigantomastia"} {"concept_id": "C0392557", "aliases": ["Nuclear cataract", "Yellowish cloudy center of lens"], "types": ["T020"], "definition": "A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. [HPO:sdoelken]", "canonical_name": "Yellowish cloudy centre of lens"} {"concept_id": "C0392676", "aliases": [], "types": ["T046"], "definition": "Body temperature of 106 degrees Fahrenheit (41.1 degrees Celsius) or higher.", "canonical_name": "Hyperpyrexia"} {"concept_id": "C0392692", "aliases": ["Hypoproteinemia"], "types": ["T033"], "definition": "A decreased concentration of protein in the blood. [HPO:gcarletti]", "canonical_name": "Decreased protein levels in blood"} {"concept_id": "C0392699", "aliases": ["Dysesthesias", "Dysaesthesia"], "types": ["T047"], "definition": "Distortion of a sense resulting in an abnormal and unpleasant sensation, usually described as burning, tingling, or numbness. Causes include lesions of the nervous system.", "canonical_name": "Dysesthesia"} {"concept_id": "C0392708", "aliases": ["Anaemia of inadequate production", "Anemia, dyserythropoietic", "Ineffective erythropoiesis", "Dyserythropoietic anemia", "Defective erythropoiesis", "Anemia of inadequate production"], "types": ["T046"], "definition": "due to failure of bone marrow stem cells to differentiate properly, usually due to hereditary or virus-induced mutation.", "canonical_name": "Dyserythropoietic anaemia"} {"concept_id": "C0392752", "aliases": ["Localized"], "types": ["T082"], "definition": "Being confined or restricted to a particular location. [HPO:probinson]", "canonical_name": "Localised"} {"concept_id": "C0392760", "aliases": [], "types": ["T169"], "definition": "To be influenced by or changed.", "canonical_name": "Affected"} {"concept_id": "C0392775", "aliases": [], "types": ["T047"], "definition": "An idiopathic disorder characterized by the degeneration of the aortic media tissue and formation of cyst-like spaces. It may lead to aortic dissection.", "canonical_name": "Cystic medial necrosis of the aorta"} {"concept_id": "C0392777", "aliases": [], "types": ["T047"], "definition": "A localized skin condition commonly associated with sun exposure that is characterized by variegated discoloration, telangiectasia and atrophy.", "canonical_name": "Poikiloderma"} {"concept_id": "C0393441", "aliases": [], "types": ["T047"], "definition": "Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF). [PMID:27608867]", "canonical_name": "Chronic lymphocytic meningitis"} {"concept_id": "C0393525", "aliases": ["Cerebellar ataxia, progressive", "Progressive ataxia"], "types": ["T047"], "canonical_name": "Progressive cerebellar ataxia"} {"concept_id": "C0393577", "aliases": [], "types": ["T047"], "definition": "Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. [HPO:probinson]", "canonical_name": "Pallidal degeneration"} {"concept_id": "C0393588", "aliases": ["Episodic dystonia"], "types": ["T184"], "definition": "A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. [HPO:probinson]", "canonical_name": "Paroxysmal dystonia"} {"concept_id": "C0393593", "aliases": [], "types": ["T047"], "definition": "Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset.", "canonical_name": "Dystonic disease"} {"concept_id": "C0393702", "aliases": ["Generalised myoclonic-atonic seizure", "Generalized myoclonic-atonic seizure", "Myoclonic atonic seizures"], "types": ["T047"], "definition": "A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component. [HPO:jalbers, PMID:28276060, PMID:28276064]", "canonical_name": "Myoclonic-astatic seizure"} {"concept_id": "C0393719", "aliases": ["Nocturnal seizures"], "types": ["T047"], "definition": "Seizures that occur while the affected individual is sleeping. [PMID:22334817, PMID:23385697, PMID:25941204]", "canonical_name": "Sleep seizures"} {"concept_id": "C0393722", "aliases": ["Absence seizures with eyelid myoclonia"], "types": ["T047"], "definition": "An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. [HPO:jalbers, PMID:19469840, PMID:28276060, PMID:28276062, PMID:28276064]", "canonical_name": "Absence seizure with eyelid myoclonia"} {"concept_id": "C0393760", "aliases": ["Sleep onset insomnia"], "types": ["T048"], "definition": "Difficulty falling asleep.", "canonical_name": "Difficulty falling asleep"} {"concept_id": "C0393890", "aliases": ["Suprascapular nerve entrapment"], "types": ["T047"], "definition": "An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region. [HPO:probinson]", "canonical_name": "Entrapment neuropathy of suprascapular nerve"} {"concept_id": "C0395837", "aliases": ["Narrowing of passageway from outer ear to middle ear", "External auditory canal stenosis", "Narrow auditory canals", "Narrow external auditory meatus", "Narrow external auditory canals", "Stenosis of the external auditory canal"], "types": ["T047"], "definition": "An abnormal narrowing of the external auditory canal. [HPO:probinson]", "canonical_name": "Stenotic external auditory canal"} {"concept_id": "C0395887", "aliases": ["Tympanosclerosis"], "types": ["T047"], "definition": "Calcification of the TYMPANIC MEMBRANE and MIDDLE EAR most often associated with chronic OTITIS MEDIA.", "canonical_name": "Tympanic calcification"} {"concept_id": "C0395905", "aliases": ["Postauricular pit", "Postauricular fistula", "Postauricular earpits", "Posterior auricular pit", "Pit behind the ear"], "types": ["T020"], "definition": "Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit. [HPO:sdoelken]", "canonical_name": "Posterior auricular sinus"} {"concept_id": "C0396064", "aliases": [], "types": ["T033"], "definition": "Bowing (abnormal curvature) of the vocal folds. [HPO:probinson]", "canonical_name": "Bowing of the vocal cords"} {"concept_id": "C0396072", "aliases": ["Laryngeal papilloma", "Laryngeal papillomatosis"], "types": ["T191"], "definition": "Recurrent respiratory papillomatosis that affects the larynx.", "canonical_name": "Laryngeal papillomas"} {"concept_id": "C0398349", "aliases": [], "types": ["T047"], "canonical_name": "Distal intestinal obstruction syndrome"} {"concept_id": "C0398357", "aliases": ["Ductus arteriosus aneurysm", "Aneurysm of the ductus arteriosus"], "types": ["T190"], "definition": "Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end. [PMID:10898444, PMID:11788230, PMID:27433265, PMID:29656824, UToronto:chum]", "canonical_name": "Dilatation of the ductus arteriosus"} {"concept_id": "C0398370", "aliases": [], "types": ["T047"], "definition": "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of SUBCUTANEOUS FAT often in obese women. It is associated with HEMATOMA, pain and may progress to secondary LYMPHEDEMA which is known as lipolymphedema.", "canonical_name": "Lipedema"} {"concept_id": "C0398623", "aliases": ["Blood hyperviscosity", "Hypercoagulability"], "types": ["T047"], "definition": "A disorder of HEMOSTASIS in which there is a tendency for the occurrence of THROMBOSIS.", "canonical_name": "Thrombophilia"} {"concept_id": "C0398625", "aliases": ["Protein C deficiency"], "types": ["T047"], "definition": "An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.)", "canonical_name": "Reduced protein C activity"} {"concept_id": "C0398639", "aliases": [], "types": ["T047"], "definition": "Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. [HPO:probinson]", "canonical_name": "Amegakaryocytic thrombocytopenia"} {"concept_id": "C0398648", "aliases": [], "types": ["T046"], "canonical_name": "Post-transfusion purpura"} {"concept_id": "C0398650", "aliases": [], "types": ["T047"], "definition": "Thrombocytopenia occurring in the absence of toxic exposure or a disease associated with decreased platelets. It is mediated by immune mechanisms, in most cases IMMUNOGLOBULIN G autoantibodies which attach to platelets and subsequently undergo destruction by macrophages. The disease is seen in acute (affecting children) and chronic (adult) forms.", "canonical_name": "Idiopathic thrombocytopenic purpura"} {"concept_id": "C0398709", "aliases": [], "types": ["T047"], "definition": "Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens. [HPO:probinson, PMID:2251975]", "canonical_name": "Secretory IgA deficiency"} {"concept_id": "C0398746", "aliases": ["Glutathione synthetase deficiency"], "types": ["T047"], "definition": "An autosomal recessive genetic disorder caused by mutation(s) in the GSS gene, encoding glutathione synthetase. Mutation(s) in the same gene is causative in hemolytic anemia due to glutathione synthetase deficiency, with the more severe condition causing elevated urinary concentrations of 5-oxoproline and central nervous system damage in addition to hemolytic anemia.", "canonical_name": "Reduced glutathione synthetase level"} {"concept_id": "C0399352", "aliases": ["Complete anodontia", "Tooth agenesis", "Anodontia vera", "Failure of development of all teeth", "Complete dental agenesis", "Total anodontia", "Complete agenesis of all teeth"], "types": ["T019"], "definition": "Congenital absence of the teeth; it may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. (Dorland, 27th ed)", "canonical_name": "Anodontia"} {"concept_id": "C0399356", "aliases": ["Supernumerary cusp", "Additional cusp"], "types": ["T190"], "definition": "Additional cusps of a dental crown. [PMID:31468724]", "canonical_name": "Extra cusp"} {"concept_id": "C0399357", "aliases": ["Talon cusp"], "types": ["T190"], "definition": "Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown). [HPO:ibailleulforestier]", "canonical_name": "Talon cusps"} {"concept_id": "C0399379", "aliases": [], "types": ["T047"], "definition": "Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.", "canonical_name": "Tooth with dentin dysplasia type i"} {"concept_id": "C0399385", "aliases": ["Early loss of baby teeth", "Early loss of primary teeth", "Premature exfoliation of deciduous teeth", "Premature exfoliation of primary teeth", "Premature deciduous tooth loss", "Premature exfoliation of teeth", "Premature loss of deciduous teeth", "Premature loss of primary teeth", "Premature loss of baby teeth"], "types": ["T047"], "definition": "Loss of the primary (also known as deciduous) teeth before the usual age. [HPO:sdoelken]", "canonical_name": "Early loss of deciduous teeth"} {"concept_id": "C0399440", "aliases": [], "types": ["T047"], "definition": "Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.", "canonical_name": "Hereditary gingival fibromatosis"} {"concept_id": "C0399461", "aliases": [], "types": ["T047"], "definition": "Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion. []", "canonical_name": "Erosion of oral mucosa"} {"concept_id": "C0399483", "aliases": ["Intra-oral hyperpigmentation", "Oral racial pigmentation", "Hyperpigmentation of oral mucosa"], "types": ["T033"], "definition": "Increased pigmentation, either focal or generalized, of the mucosa of the mouth. [PMID:19125428]", "canonical_name": "Oral mucosa melanin pigmentation"} {"concept_id": "C0399518", "aliases": ["Uneven lower jaw", "Asymmetry of lower jaw", "Lower jaw shifted to one side", "Uneven mandible"], "types": ["T033"], "definition": "Lack of symmetry between the left and right mandible. [HPO:probinson]", "canonical_name": "Asymmetry of the mandible"} {"concept_id": "C0399519", "aliases": ["Tilted maxilla", "Deviation of the maxilla", "Asymmetry of the upper jaw", "Asymmetry of right and left side of the maxilla", "Uneven upper jaw", "Asymmetry of upper jaw", "Tilted upper jaw", "Asymmetry of the maxilla", "Crooked upper jaw", "Deviation of the upper jaw", "Canted upper jaw", "Canted maxilla", "Unequal sides of maxilla", "Uneven maxilla"], "types": ["T033"], "definition": "Asymmetry between the left and right sides of the maxilla. [ORCID:0000-0001-5889-4463]", "canonical_name": "Crooked maxilla"} {"concept_id": "C0399526", "aliases": ["Increased size of lower jaw", "Mandible prognathism", "Macromandible", "Enlarged mandible", "Increased projection of mandible", "Prognathism", "Big mandible", "Mandibular prognathia", "Enlargement of mandible", "Prominent chin", "Lower jaw hyperplasia", "Large lower jaw", "Mandibular prognathism", "Mandibular macrognathia", "Big lower jaw", "Large mandible", "Increased projection of lower jaw", "Prominent jaw", "Prognathia", "Lower jaw excess", "Prominent lower jaw", "Hyperplasia of lower jaw", "Prominent mandible"], "types": ["T019"], "definition": "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).", "canonical_name": "Relative mandibular prognathism"} {"concept_id": "C0399545", "aliases": ["Anterior diastema of teeth", "Diastema between incisors", "Widely spaced front teeth", "Widely-spaced incisors", "Gap between front teeth"], "types": ["T033"], "canonical_name": "Diastema between front teeth"} {"concept_id": "C0399570", "aliases": ["Underdevelopment of condylar process of mandible", "Agenesis of condylar process of mandible"], "types": ["T033"], "canonical_name": "Mandibular condyle aplasia"} {"concept_id": "C0399572", "aliases": ["Mandibular condyle hypoplasia", "Decreased size of mandibular condyle", "Hypoplasia of subcondylar region of mandible", "Small mandibular condyle", "Decreased size of condylar process of mandible", "Hypoplasia of condylar process of mandible"], "types": ["T033"], "canonical_name": "Hypoplasia of mandibular condyle"} {"concept_id": "C0399605", "aliases": ["Commissural pit", "Commissural lip pit", "Pits at the corners of the lips", "Lip pits at corners of the mouth"], "types": ["T033"], "definition": "A depression located at an oral commissure. [HPO:sdoelken, PMID:19125428]", "canonical_name": "Commissural labial pits"} {"concept_id": "C0400843", "aliases": [], "types": ["T020"], "canonical_name": "Mechanical ileus"} {"concept_id": "C0400885", "aliases": [], "types": ["T047"], "canonical_name": "Non cirrhotic portal fibrosis"} {"concept_id": "C0400979", "aliases": [], "types": ["T047"], "definition": "Blockage in the biliary tract that carries bile from the liver to the gallbladder and small intestine. Causes include gallstones, biliary tract strictures and inflammation, pancreatitis, cirrhosis, lymph node enlargement, and bile duct and pancreas neoplasms.", "canonical_name": "Biliary tract obstruction"} {"concept_id": "C0400991", "aliases": [], "types": ["T033"], "definition": "The presence of cyst of the intrahepatic bile duct. [HPO:probinson]", "canonical_name": "Intrahepatic bile duct cysts"} {"concept_id": "C0401148", "aliases": [], "types": ["T184"], "definition": "Constipation of sudden onset and lasting for less than three months. [ORCID:0000-0001-5208-3432]", "canonical_name": "Acute constipation"} {"concept_id": "C0401149", "aliases": ["Chronic constipation"], "types": ["T184"], "definition": "Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. [ORCID:0000-0001-5208-3432]", "canonical_name": "Infrequent bowel movements"} {"concept_id": "C0401151", "aliases": ["Recurrent diarrhoea", "Chronic diarrhea", "Chronic diarrhoea", "Recurrent diarrhea"], "types": ["T047"], "definition": "The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. [HPO:probinson]", "canonical_name": "Diarrhea, recurrent"} {"concept_id": "C0403396", "aliases": ["SSNS"], "types": ["T047"], "definition": "Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids.", "canonical_name": "Steroid-sensitive nephrotic syndrome"} {"concept_id": "C0403397", "aliases": ["Steroid-resistant nephrotic syndrome"], "types": ["T047"], "definition": "A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. [Eurenomics:ewuehl, ORCID:0000-0002-2234-4248, PMID:29910038]", "canonical_name": "SRNS"} {"concept_id": "C0403398", "aliases": ["Steroid-dependent nephrotic syndrome"], "types": ["T047"], "definition": "Nephrotic syndrome characterized by two or more consecutive relapses during steroid tapering or within fourteen days of discontinuing steroids.", "canonical_name": "SDNS"} {"concept_id": "C0403416", "aliases": [], "types": ["T047"], "definition": "Crescentic glomerulonephritis, the cause of which is unknown.", "canonical_name": "Crescentic glomerulonephritis"} {"concept_id": "C0403474", "aliases": [], "types": ["T047"], "definition": "The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. [HPO:probinson]", "canonical_name": "Microscopic nephrocalcinosis"} {"concept_id": "C0403476", "aliases": [], "types": ["T047"], "definition": "The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). [HPO:probinson]", "canonical_name": "Cortical nephrocalcinosis"} {"concept_id": "C0403477", "aliases": [], "types": ["T047"], "definition": "The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). [ORDCID:0000-0001-5208-3432]", "canonical_name": "Medullary nephrocalcinosis"} {"concept_id": "C0403673", "aliases": [], "types": ["T046"], "definition": "Male sexual climax without ejaculation.", "canonical_name": "Retrograde ejaculation"} {"concept_id": "C0403719", "aliases": ["Uric acid stones", "Uric acid nephrolithiasis"], "types": ["T047"], "definition": "Nephrolithiasis in which the composition of the stone(s) is predominantly uric acid.", "canonical_name": "Uric acid urolithiasis"} {"concept_id": "C0403823", "aliases": ["Reduced sperm motility"], "types": ["T047"], "definition": "A condition in which the percentage of motile sperm is abnormally low.", "canonical_name": "Asthenospermia"} {"concept_id": "C0403824", "aliases": ["Teratozoospermia", "Abnormal sperm morphology", "Abnormal shape of sperm"], "types": ["T047"], "definition": "Conditions in which sperm show abnormal morphology.", "canonical_name": "Teratospermia"} {"concept_id": "C0403825", "aliases": [], "types": ["T033"], "definition": "A rare but severe cause of male infertility. It is characterized by the presence of 100% round headed spermatozoa and lack of acrosomes.", "canonical_name": "Globozoospermia"} {"concept_id": "C0404531", "aliases": ["Enlargement of the labia", "Labial hypertrophy", "Enlargement of the vaginal lips"], "types": ["T046"], "canonical_name": "Enlarged vaginal lips"} {"concept_id": "C0405028", "aliases": [], "types": ["T033"], "definition": "Increased length of the umbilical cord. [DDD:hfirth]", "canonical_name": "Long umbilical cord"} {"concept_id": "C0405124", "aliases": [], "types": ["T033"], "definition": "A complication of pregnancy in which the UMBILICAL CORD wraps around the fetal neck once or multiple times. In some cases, cord entanglement around fetal neck may not affect pregnancy outcome significantly. In others, the nuchal cord may lead to restricted fetal blood flow, oxygen transport, fetal development, fetal movement, and complicated delivery at birth.", "canonical_name": "Nuchal cord"} {"concept_id": "C0405580", "aliases": [], "types": ["T047"], "definition": "An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).", "canonical_name": "Adrenocortical insufficiency"} {"concept_id": "C0406322", "aliases": [], "types": ["T047"], "definition": "Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed. [PMID:24770509, PMID:27041288]", "canonical_name": "Nail psoriasis"} {"concept_id": "C0406438", "aliases": ["Pterygium of nails"], "types": ["T190"], "definition": "Inward advance of skin over the nail plate. [HPO:probinson]", "canonical_name": "Nail pterygium"} {"concept_id": "C0406481", "aliases": [], "types": ["T047"], "definition": "A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules. [PMID:18177407]", "canonical_name": "Comedonal acne"} {"concept_id": "C0406484", "aliases": [], "types": ["T047"], "definition": "Enlargement of the sebaceous glands.", "canonical_name": "Sebaceous hyperplasia"} {"concept_id": "C0406608", "aliases": [], "types": ["T191"], "definition": "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males.", "canonical_name": "Pelvic lipomatosis"} {"concept_id": "C0406670", "aliases": ["Vulvar pain"], "types": ["T047"], "definition": "Complex pain syndrome with unknown etiology, characterized by constant or intermittent generalized vulva pain (Generalized vulvodynia) or localized burning sensations in the VESTIBULE area when pressure is applied (Vestibulodynia, or Vulvar Vestibulitis Syndrome). Typically, vulvar tissue with vulvodynia appears normal without infection or skin disease. Vulvodynia impacts negatively on a woman's quality of life as it interferes with sexual and daily activities.", "canonical_name": "Vulvodynia"} {"concept_id": "C0406814", "aliases": ["Labial lentigo", "Lip freckle", "Ephelis of lip"], "types": ["T033"], "definition": "Increased focal pigmentation of the vermilion of the lips. [PMID:19125428]", "canonical_name": "Lip lentigo"} {"concept_id": "C0409336", "aliases": [], "types": ["T020"], "definition": "Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. [HPO:probinson]", "canonical_name": "Shoulder flexion contracture"} {"concept_id": "C0409338", "aliases": ["Elbow contractures", "Fixed flexion at the elbow joint", "Elbow flexion deformity", "Elbow flexion contracture", "Elbow contracture"], "types": ["T020"], "definition": "A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow. [HPO:probinson]", "canonical_name": "Elbow flexion contractures"} {"concept_id": "C0409345", "aliases": ["Wrist flexion contracture", "Wrist flexion deformity"], "types": ["T020"], "definition": "A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. [HPO:probinson]", "canonical_name": "Wrist contracture"} {"concept_id": "C0409346", "aliases": ["Joint contractures of the thumb", "Flexion deformities of thumbs", "Flexion contracture of thumb"], "types": ["T020"], "definition": "Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected. [HPO:probinson]", "canonical_name": "Contracture of thumb"} {"concept_id": "C0409348", "aliases": ["Camptodactyly of proximal interphalangeal joint", "Camptodactyly of finger", "Flexion contractures of proximal interphalangeal joints", "Camptodactyly of hands", "Contractures of the proximal interphalangeal joints of the fingers", "Proximal interphalangeal finger joint contractures"], "types": ["T190"], "definition": "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. [HPO:sdoelken, PMID:19125433]", "canonical_name": "Permanent flexion of the finger"} {"concept_id": "C0409354", "aliases": ["Hip contracture", "Hip flexion contractures", "Flexion contracture of hips", "Flexion contractures of hips"], "types": ["T020"], "canonical_name": "Hip contractures"} {"concept_id": "C0409355", "aliases": ["Flexion deformity of the knee", "Flexion contractures at both knees", "Knee flexion contracture", "Contractures of knees", "Knee flexion deformity", "Knee contractures", "Flexion contractures of knees", "Knee contracture", "Flexion contracture of knees", "Knee flexion contractures"], "types": ["T190"], "definition": "A bent (flexed) knee joint that cannot be straightened actively or passively. [HPO:probinson]", "canonical_name": "Contractures of the knees"} {"concept_id": "C0409412", "aliases": ["Recurrent patellar dislocation"], "types": ["T037"], "definition": "Patellar dislocation occurring repeated times. [HPO:curators]", "canonical_name": "Recurrent dislocation of patellas"} {"concept_id": "C0409415", "aliases": ["Multiple shoulder dislocation"], "types": ["T037"], "definition": "Shoulder dislocation occurring repeated times. [PMID:29197942, Sanford:krageth]", "canonical_name": "Recurrent shoulder dislocation"} {"concept_id": "C0409477", "aliases": [], "types": ["T047"], "canonical_name": "Elbow ankylosis"} {"concept_id": "C0409495", "aliases": ["Protrusio acetabulae", "Protrusio acetabuli"], "types": ["T190"], "definition": "Intrapelvic bulging of the medial acetabular wall. [HPO:probinson]", "canonical_name": "Abnormally indented hip sockets"} {"concept_id": "C0409954", "aliases": [], "types": ["T047"], "canonical_name": "Osteoarthritis of the elbow"} {"concept_id": "C0409956", "aliases": [], "types": ["T047"], "canonical_name": "Osteoarthritis of the first carpometacarpal joint"} {"concept_id": "C0409957", "aliases": [], "types": ["T047"], "canonical_name": "Osteoarthritis of the distal interphalangeal joint"} {"concept_id": "C0409959", "aliases": [], "types": ["T047"], "definition": "Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)", "canonical_name": "Knee osteoarthritis"} {"concept_id": "C0410192", "aliases": [], "types": ["T047"], "canonical_name": "Scapulohumeral muscular dystrophy"} {"concept_id": "C0410264", "aliases": ["Achilles tendon contracture", "Achilles tendon contractures", "Contractures of the Achilles tendon", "Tight achilles tendon"], "types": ["T190"], "definition": "A contracture of the Achilles tendon. [HPO:probinson]", "canonical_name": "Shortening of the achilles tendon"} {"concept_id": "C0410266", "aliases": [], "types": ["T190"], "canonical_name": "Hamstring contractures"} {"concept_id": "C0410528", "aliases": [], "types": ["T047"], "definition": "A general term describing features characterized by abnormal development of bones and connective tissues. [HPO:probinson]", "canonical_name": "Skeletal dysplasia"} {"concept_id": "C0410550", "aliases": [], "types": ["T047"], "canonical_name": "Vertebral collapse"} {"concept_id": "C0410574", "aliases": [], "types": ["T047"], "canonical_name": "Synovial hypertrophy"} {"concept_id": "C0410607", "aliases": ["Intervertebral disk calcification"], "types": ["T047"], "definition": "The presence of abnormal calcium deposition of the intervertebral disk. [HPO:probinson]", "canonical_name": "Intervertebral disc calcification"} {"concept_id": "C0410632", "aliases": ["Schmorl's node"], "types": ["T047"], "definition": "A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra. [PMID:22544358]", "canonical_name": "Schmorl's nodes"} {"concept_id": "C0410648", "aliases": [], "types": ["T047"], "canonical_name": "Spinal instability"} {"concept_id": "C0410652", "aliases": [], "types": ["T047"], "definition": "An abnormal lack of stability of the cervical spine. [HPO:curators]", "canonical_name": "Cervical spine instability"} {"concept_id": "C0410653", "aliases": [], "types": ["T047"], "definition": "Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. [HPO:probinson]", "canonical_name": "Atlantoaxial instability"} {"concept_id": "C0410916", "aliases": ["Neonatal death"], "types": ["T033"], "definition": "Death of a live newborn during the first 28 days of life.", "canonical_name": "Neonatal lethal"} {"concept_id": "C0410935", "aliases": ["open cranial sutures", "Wide cranial sutures", "Broad cranial sutures", "Large cranial suture", "Persistent open cranial sutures"], "types": ["T033"], "definition": "An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). [HPO:probinson]", "canonical_name": "Widened cranial sutures"} {"concept_id": "C0413235", "aliases": [], "types": ["T047"], "definition": "A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment. [PMID:28890861]", "canonical_name": "Idiopathic anaphylaxis"} {"concept_id": "C0422846", "aliases": ["Versive seizure", "Focal motor seizure with version"], "types": ["T047"], "definition": "A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. [HPO:jalbers]", "canonical_name": "Versive seizures"} {"concept_id": "C0422860", "aliases": ["Cognitive aura", "Focal cognitive seizure", "Partial cognitive seizure"], "types": ["T047"], "definition": "A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure. [PMID:28276060, PMID:28276064]", "canonical_name": "Cognitive seizure"} {"concept_id": "C0422861", "aliases": ["Focal emotional seizure", "Partial emotional seizure", "Focal affective seizure", "Emotional seizure"], "types": ["T047"], "definition": "Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer. [PMID:28276060, PMID:28276062, PMID:28276064]", "canonical_name": "Affective seizure"} {"concept_id": "C0423082", "aliases": [], "types": ["T033"], "definition": "Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. [HPO:probinson, PMID:572501]", "canonical_name": "Hypometric saccades"} {"concept_id": "C0423083", "aliases": [], "types": ["T033"], "definition": "A saccade that overshoots the target with the dynamic saccade. [HPO:probinson, PMID:572501]", "canonical_name": "Hypermetric saccades"} {"concept_id": "C0423109", "aliases": ["Upslanting palpebral fissures", "Upward slanting of the opening between the eyelids", "Mongoloid slant", "Upslanted palpebral fissures", "Upslanted palpebral fissure", "Upward slanting of palpebral fissures", "Upward slanting palpebral fissures"], "types": ["T033"], "definition": "The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. [PMID:19125427]", "canonical_name": "Upward slanted palpebral fissures"} {"concept_id": "C0423110", "aliases": ["Down-slanting palpebral fissure", "Antimongoloid slanted palpebral fissures", "Downward-slanting palpebral fissures", "Down slanting palpebral fissures", "Downward slanted palpebral fissures", "Downslanted palpebral fissures", "Palpebral fissures down-slanted", "Down-slanting palpebral fissures", "Down-slanted palpebral fissures", "Downslanting palpebral fissure", "Antimongoloid slant of palpebral fissures", "Antimongoloid eye slant", "Downslanting palpebral fissures", "Downward slanting palpebral fissures"], "types": ["T033"], "definition": "The palpebral fissure inclination is more than two standard deviations below the mean. [PMID:19125427]", "canonical_name": "Downward slanting of the opening between the eyelids"} {"concept_id": "C0423112", "aliases": ["Short palpebral fissures", "Short opening between the eyelids", "Decreased height of palpebral fissure"], "types": ["T033"], "definition": "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. [PMID:19125427]", "canonical_name": "Short palpebral fissure"} {"concept_id": "C0423113", "aliases": ["Increased intercanthal distance", "Increased distance between medial canthi", "Corners of eye widely separated", "Telecanthus"], "types": ["T033"], "definition": "Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. [HPO:probinson]", "canonical_name": "Dystopia canthorum"} {"concept_id": "C0423122", "aliases": ["Brow ptosis"], "types": ["T047"], "definition": "Drooping of the upper eyebrow below the superior orbital rim. []", "canonical_name": "Drooping brow"} {"concept_id": "C0423124", "aliases": ["Baggy eyes", "Droopy eyelid skin", "Extra eyelid skin", "Redundant eyelid skin", "Dermatochalasis"], "types": ["T033"], "definition": "Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge. [HPO:probinson]", "canonical_name": "Eyelid dermatochalasia"} {"concept_id": "C0423128", "aliases": ["Setting-sun eye phenomenon", "Sunsetting eye"], "types": ["T184"], "definition": "An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid. [HPO:probinson, PMID:17030938]", "canonical_name": "Sun setting eyes"} {"concept_id": "C0423178", "aliases": [], "types": ["T184"], "canonical_name": "Bitot's spots"} {"concept_id": "C0423221", "aliases": ["Large eyeballs"], "types": ["T033"], "canonical_name": "Enlarged eyeball"} {"concept_id": "C0423224", "aliases": ["Sunken eye", "Deep set eye", "Sunken eyes", "Deeply set eye", "Deep-set eyes"], "types": ["T033"], "definition": "An eye that is more deeply recessed into the plane of the face than is typical. [PMID:19125427]", "canonical_name": "Ocular depression"} {"concept_id": "C0423250", "aliases": ["Opacification of the corneal stroma"], "types": ["T033"], "definition": "Reduced transparency of the stroma of cornea. [DDD:gblack]", "canonical_name": "Corneal stromal opacity"} {"concept_id": "C0423260", "aliases": [], "types": ["T033"], "definition": "Reduced transparency of the central posterior portion of the corneal stroma. [HPO:probinson]", "canonical_name": "Central posterior corneal opacity"} {"concept_id": "C0423276", "aliases": [], "types": ["T033"], "definition": "Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. [HPO:probinson]", "canonical_name": "Shallow anterior chamber"} {"concept_id": "C0423280", "aliases": [], "types": ["T033"], "definition": "Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased. [HPO:probinson]", "canonical_name": "Deep anterior chamber"} {"concept_id": "C0423281", "aliases": [], "types": ["T033"], "definition": "An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber. [PMID:16196117]", "canonical_name": "Anterior chamber flare"} {"concept_id": "C0423282", "aliases": [], "types": ["T033"], "definition": "Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. [ORCID:0000-0003-0986-4123, PMID:16196117]", "canonical_name": "Anterior chamber cells"} {"concept_id": "C0423318", "aliases": ["Different coloured eyes", "Asymmetry of iris pigmentation", "Heterochromia iridis", "Different colored eyes"], "types": ["T033"], "definition": "Asymmetry between the two irides or asymmetry between different parts of one iris. [ORCID:0000-0003-0986-4123]", "canonical_name": "Heterochromia irides"} {"concept_id": "C0423319", "aliases": ["Iris atrophy"], "types": ["T047"], "definition": "Loss of iris tissue (atrophy) [HPO:probinson]", "canonical_name": "Iris degeneration"} {"concept_id": "C0423320", "aliases": [], "types": ["T047"], "definition": "Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. [HPO:sdoelken]", "canonical_name": "Iridodonesis"} {"concept_id": "C0423325", "aliases": ["Uveal ectropion"], "types": ["T047"], "definition": "Presence of iris pigment epithelium on the anterior surface of the iris. []", "canonical_name": "Ectropion uveae"} {"concept_id": "C0423336", "aliases": [], "types": ["T033"], "canonical_name": "Trembling eye lens"} {"concept_id": "C0423361", "aliases": ["Posterior vitreous detachment"], "types": ["T047"], "definition": "Separation of the vitreous humor from the retina. [HPO:probinson, PMID:24376338]", "canonical_name": "Vitreous detachment"} {"concept_id": "C0423401", "aliases": ["Retinal artery tortuousity", "Retinal arterial tortuosity", "Retinal arteriolar tortuosity"], "types": ["T033"], "definition": "The presence of an increased number of twists and turns of the retinal artery. [HPO:probinson]", "canonical_name": "Tortuous retinal arterioles"} {"concept_id": "C0423402", "aliases": [], "types": ["T020"], "definition": "An acquired dilation of the retinal artery often associated with systemic HYPERTENSION.", "canonical_name": "Retinal arterial macroaneurysms"} {"concept_id": "C0423414", "aliases": [], "types": ["T033"], "definition": "Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. [PMID:7952338]", "canonical_name": "Retinal flecks"} {"concept_id": "C0423420", "aliases": ["Foveal reflex absent", "Absent foveal reflex"], "types": ["T033"], "definition": "Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. [HPO:probinson, PMID:27491360]", "canonical_name": "Loss of foveal reflex"} {"concept_id": "C0423421", "aliases": [], "types": ["T033"], "definition": "Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. [ORCID:0000-0003-0986-4123]", "canonical_name": "Macular atrophy"} {"concept_id": "C0423428", "aliases": ["Macular scar"], "types": ["T020"], "definition": "Scar tissue in the macula. [HPO:probinson]", "canonical_name": "Macular scarring"} {"concept_id": "C0423431", "aliases": [], "types": ["T033"], "definition": "A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium. [HPO:probinson]", "canonical_name": "Subretinal exudate"} {"concept_id": "C0423757", "aliases": [], "types": ["T033"], "definition": "Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. [HPO:probinson]", "canonical_name": "Thin skin"} {"concept_id": "C0423776", "aliases": [], "types": ["T033"], "canonical_name": "Palmar pits"} {"concept_id": "C0423781", "aliases": ["Gottron papules"], "types": ["T033"], "definition": "Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints. [PMID:28058540]", "canonical_name": "Gottron's papules"} {"concept_id": "C0423791", "aliases": [], "types": ["T033"], "definition": "A skin condition consisting of both macules and papules.", "canonical_name": "Maculopapular exanthema"} {"concept_id": "C0423798", "aliases": ["Bruising susceptibility", "Bruise easily", "Easy bruisability", "Bruisability"], "types": ["T033"], "definition": "Appearance of skin bruises following perceived minimal contact or injury.", "canonical_name": "Easy bruising"} {"concept_id": "C0423807", "aliases": ["Hyperconvex nail", "Nail overcurvature"], "types": ["T033"], "definition": "When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. [HPO:probinson, PMID:19125433]", "canonical_name": "Increased nail curvature"} {"concept_id": "C0423808", "aliases": ["Short nails"], "types": ["T033"], "definition": "Decreased length of nail. [PMID:19125433]", "canonical_name": "Short nail"} {"concept_id": "C0423820", "aliases": ["Ridged nails", "Ridged nail", "Grooved nails", "Nail ridging"], "types": ["T033"], "definition": "Straight elevated lines on the nail surface. Ridges may be vertical (running from the cuticle to the nail tip) or horizontal (running from one side of the nail to the other). Vertical ridges are usually not associated with underlying disorders and tend to become more pronounced with age. Horizontal ridges may be associated with metabolic disorders and malnutrition.", "canonical_name": "Longitudinal ridging"} {"concept_id": "C0423823", "aliases": ["Thin nails"], "types": ["T033"], "definition": "Nail that appears thin when viewed on end. [HPO:probinson, PMID:19125433]", "canonical_name": "Thin nail"} {"concept_id": "C0423848", "aliases": ["Double row of eyelashes", "Distichiasis of eyelid eyelashes", "Distichiasis"], "types": ["T190"], "definition": "Double rows of eyelashes. [HPO:probinson]", "canonical_name": "Two rows of eyelashes"} {"concept_id": "C0423867", "aliases": ["Thin hair texture", "Fine hair", "Thinned hair", "Fine hair texture", "Thin hair", "Fine hair shaft"], "types": ["T033"], "definition": "Hair that is fine or thin to the touch. [HPO:probinson]", "canonical_name": "Thin hair shaft"} {"concept_id": "C0423903", "aliases": [], "types": ["T033"], "canonical_name": "Low intelligence"} {"concept_id": "C0424000", "aliases": ["Suicidality"], "types": ["T033"], "definition": "Thoughts of taking one's own life.", "canonical_name": "Suicidal ideation"} {"concept_id": "C0424082", "aliases": [], "types": ["T048"], "definition": "Fleeting perceptual experiences that occur during the transition from sleep to wakefulness. [PMID:27358492]", "canonical_name": "Hypnopompic hallucinations"} {"concept_id": "C0424102", "aliases": [], "types": ["T033"], "canonical_name": "Easily distracted"} {"concept_id": "C0424109", "aliases": [], "types": ["T033"], "definition": "Excessive crying.", "canonical_name": "Tearfulness"} {"concept_id": "C0424290", "aliases": ["Compulsive hoarding"], "types": ["T048"], "definition": "Excessive or pathological tendency to save and collect possessions. []", "canonical_name": "Collectionism"} {"concept_id": "C0424295", "aliases": ["Hyperactive behavior", "More active than typical", "Hyperactive behaviour"], "types": ["T048"], "definition": "Increased motor activity that is not goal directed.", "canonical_name": "Hyperactivity"} {"concept_id": "C0424296", "aliases": [], "types": ["T048"], "definition": "Unrestrained behavior, often at odds with social norms.", "canonical_name": "Disinhibition"} {"concept_id": "C0424304", "aliases": [], "types": ["T033"], "canonical_name": "Inappropriate laughter"} {"concept_id": "C0424323", "aliases": ["Violent behavior", "physical aggression"], "types": ["T033"], "definition": "Any action that results in intimidation, harm, damage, or destruction of someone or something.", "canonical_name": "Violent behaviour"} {"concept_id": "C0424359", "aliases": [], "types": ["T048"], "definition": "Profound inattention by individuals to their own health and hygiene.", "canonical_name": "Self-neglect"} {"concept_id": "C0424366", "aliases": ["Self-harm"], "types": ["T033"], "definition": "Self-inflicted harm without the intent to die.", "canonical_name": "Self injury"} {"concept_id": "C0424375", "aliases": [], "types": ["T033"], "definition": "Habitual biting of one's own body. [HPO:probinson]", "canonical_name": "Self-biting"} {"concept_id": "C0424448", "aliases": ["Lack of facial expression", "Mask-like facial appearance", "Amimia", "Masklike facies", "Mask-like facies"], "types": ["T033"], "definition": "A lack of facial expression often with staring eyes and a slightly open mouth. [HPO:probinson]", "canonical_name": "Expressionless face"} {"concept_id": "C0424489", "aliases": ["Chapped lips", "Common cheilitis", "Chapped lip"], "types": ["T033"], "definition": "Cracking, fissuring, and peeling of the skin of the lips. []", "canonical_name": "Cheilitis simplex"} {"concept_id": "C0424503", "aliases": ["Facial dysmorphism", "Dysmorphic facial features", "Dysmorphic facies", "Distinctive facies", "Unusual facial appearance", "Abnormal morphology of the face", "Unusual facies"], "types": ["T033"], "definition": "An abnormal morphology (form) of the face or its components. [DDD:jclayton-smith]", "canonical_name": "Abnormal facial shape"} {"concept_id": "C0424551", "aliases": ["Exercise intolerance", "Decreased ability to exercise", "Inability to exercise", "Low exercise endurance"], "types": ["T033"], "definition": "A reduction in the ability to perform or withstand activities that induce physical or mental exertion.", "canonical_name": "Poor exercise tolerance"} {"concept_id": "C0424585", "aliases": [], "types": ["T033"], "canonical_name": "Tired easily"} {"concept_id": "C0424594", "aliases": [], "types": ["T033"], "definition": "A state of increased vulnerability to stressors, following declines in function and reserves across multiple physiologic systems, characterized by MUSCLE WEAKNESS; FATIGUE; slowed motor performance; low physical activity; and unintentional weight loss.", "canonical_name": "Frailty"} {"concept_id": "C0424688", "aliases": [], "types": ["T033"], "definition": "An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. [PMID:26505062]", "canonical_name": "Decreased head circumference"} {"concept_id": "C0424690", "aliases": ["Uneven skull shape", "Asymmetry of skull", "Skull asymmetry"], "types": ["T033"], "canonical_name": "Unequal skull shape"} {"concept_id": "C0424693", "aliases": ["Broad skull", "Wide cranium", "Increased width of cranium", "Wide skull", "Increased width of skull"], "types": ["T033"], "definition": "Increased width of the skull. [HPO:probinson]", "canonical_name": "Broad cranium"} {"concept_id": "C0424711", "aliases": ["Decreased orbital separation", "Decreased interpupillary distance", "Abnormally close eyes", "Closely spaced eyes", "Hypotelorism", "Ocular hypotelorism", "Decreased distance between eyes"], "types": ["T033"], "definition": "Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). [HPO:probinson, PMID:19125427]", "canonical_name": "Decreased distance between eye sockets"} {"concept_id": "C0424721", "aliases": [], "types": ["T033"], "canonical_name": "Deformity of the temporomandibular joint"} {"concept_id": "C0424731", "aliases": ["Single palmar crease", "Single transverse palmar crease", "Single palmar creases", "Transverse palmar crease", "Single transverse palmar creases", "Simian line", "Simian crease", "Simian creases"], "types": ["T033"], "definition": "A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome.", "canonical_name": "Single flexion crease"} {"concept_id": "C0424790", "aliases": ["Rigours"], "types": ["T184"], "definition": "Severe chills accompanied by vigorous shaking.", "canonical_name": "Rigors"} {"concept_id": "C0425470", "aliases": ["Intercostal retractions"], "types": ["T033"], "definition": "The marked inward movement of the muscles between the ribs during inhalation, indicating that there is reduced pressure in the thoracic cavity, and which can be a sign of breathing difficulties.", "canonical_name": "Chest retractions"} {"concept_id": "C0425488", "aliases": [], "types": ["T033"], "canonical_name": "Panting"} {"concept_id": "C0425492", "aliases": ["Irregular respiratory rhythm"], "types": ["T033"], "definition": "A change from the normal breathing pattern in an infant, child, or adult, in terms of the amplitude and frequency of inhalations and exhalations.", "canonical_name": "Irregular respiration"} {"concept_id": "C0425574", "aliases": [], "types": ["T033"], "definition": "Increased amplitude (strength) of the pulse. []", "canonical_name": "Bounding pulse"} {"concept_id": "C0425591", "aliases": ["Skipped heart beat", "Missed heart beat"], "types": ["T033"], "definition": "The sensation of an isolated cardiac contraction occurring prior to the normal or regular rhythm. (ACC-AHA)", "canonical_name": "Skipped heartbeat"} {"concept_id": "C0425593", "aliases": ["Presystolic gallop", "Atrial gallop", "S4"], "types": ["T033"], "definition": "The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction. []", "canonical_name": "Fourth heart sound"} {"concept_id": "C0425772", "aliases": ["Premature thelarche"], "types": ["T033"], "definition": "Isolated breast development prior to the normal age of pubertal onset in females.", "canonical_name": "Premature breast development"} {"concept_id": "C0425791", "aliases": [], "types": ["T184"], "definition": "Swelling and dimpling of the surface of the skin, which is typically associated with carcinoma of the breast.", "canonical_name": "Peau d'orange"} {"concept_id": "C0425913", "aliases": ["Aplasia of the uterus", "Absent uterus"], "types": ["T033"], "definition": "An indication that an individual's uterus is not present.", "canonical_name": "uterus absent"} {"concept_id": "C0426146", "aliases": [], "types": ["T033"], "definition": "A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal. [HPO:probinson]", "canonical_name": "Incomplete breech presentation"} {"concept_id": "C0426209", "aliases": ["Meconium stained amniotic fluid", "Meconium-stained amniotic fluid"], "types": ["T033"], "definition": "Presence of meconium into amniotic fluid.", "canonical_name": "Meconium staining of amniotic fluid"} {"concept_id": "C0426234", "aliases": [], "types": ["T033"], "canonical_name": "Calcified placenta"} {"concept_id": "C0426320", "aliases": [], "types": ["T019"], "definition": "Congenital absence of the scrotum. [HPO:probinson]", "canonical_name": "Absent scrotum"} {"concept_id": "C0426396", "aliases": [], "types": ["T033"], "definition": "An abnormal dark color of the urine. []", "canonical_name": "Dark urine"} {"concept_id": "C0426414", "aliases": [], "types": ["T033"], "canonical_name": "Small nose"} {"concept_id": "C0426415", "aliases": ["Big nose", "Large nose", "Prominent nose", "Disproportionately large nose", "Pronounced nose", "Increased nasal size"], "types": ["T033"], "definition": "Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. [PMID:19152422]", "canonical_name": "Increased size of nose"} {"concept_id": "C0426421", "aliases": ["Increased width of nose", "Wide nose", "Increased nasal width", "Increased breadth of nose", "Increased nasal breadth"], "types": ["T033"], "definition": "Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. [PMID:19152422]", "canonical_name": "Broad nose"} {"concept_id": "C0426422", "aliases": ["Thin nose", "Decreased nasal width", "Decreased nasal breadth"], "types": ["T033"], "definition": "Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. [PMID:19152422]", "canonical_name": "Narrow nose"} {"concept_id": "C0426428", "aliases": ["Cleft tip of nose", "Bifid tip of nose", "Cleft nasal tip"], "types": ["T033"], "definition": "A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. [HPO:sdoelken, PMID:19152422]", "canonical_name": "Bifid nasal tip"} {"concept_id": "C0426429", "aliases": ["Increased width of nasal tip", "Wide tip of nose", "Increased breadth of nasal tip", "Broad, upturned nose", "Broad upturned nose", "Nasal tip, broad", "Increased width of tip of nose", "Nasal tip, wide", "Broad nasal tip", "Broad tip of nose"], "types": ["T033"], "definition": "Increase in width of the nasal tip. [HPO:probinson, PMID:19152422]", "canonical_name": "Increased breadth of tip of nose"} {"concept_id": "C0426430", "aliases": ["Low hanging nasal tip", "Drooping nasal tip", "Overhanging nasal tip", "Nasal tip, overhanging"], "types": ["T033"], "definition": "Positioning of the nasal tip inferior to the nasal base. [PMID:19152422]", "canonical_name": "Hooked tip of nose"} {"concept_id": "C0426433", "aliases": ["Thin nasal tip", "Narrow tip of nose", "Nasal tip, narrow", "Pinched tip of nose", "Narrow nasal tip", "Thin tip of nose", "Nasal tip, pinched"], "types": ["T033"], "definition": "Decrease in width of the nasal tip. [PMID:19152422]", "canonical_name": "Pinched nasal tip"} {"concept_id": "C0426436", "aliases": [], "types": ["T033"], "canonical_name": "Small nostrils"} {"concept_id": "C0426439", "aliases": ["Naris, narrow", "Narrow naris", "Thin nostrils", "Narrow nares", "Narrow nostrils"], "types": ["T033"], "definition": "Slender, slit-like aperture of the nostril. [HPO:probinson]", "canonical_name": "Thin nares"} {"concept_id": "C0426440", "aliases": ["Large nares", "Increased diameter of nostril", "Naris, enlarged", "Increased diameter of nares", "Wide nostril", "Increased width of nares", "Enlarged nostril", "Dilated nostril", "Naris, broad", "Wide nares", "Enlarged naris", "Broad nostril", "Enlarged nares"], "types": ["T033"], "definition": "Increased aperture of the nostril. [PMID:19152422]", "canonical_name": "Dilated nares"} {"concept_id": "C0426489", "aliases": [], "types": ["T033"], "definition": "A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla. []", "canonical_name": "Gingival cleft"} {"concept_id": "C0426494", "aliases": ["Lingual wasting"], "types": ["T033"], "canonical_name": "Wasting of the tongue"} {"concept_id": "C0426501", "aliases": ["Tight lingual frenulum", "Short tongue frenulum", "Deficiency of lingual frenulum", "Short lingual frenum", "Short tongue frenum"], "types": ["T033"], "definition": "The presence of an abnormally short lingual frenulum. [HPO:probinson]", "canonical_name": "Short lingual frenulum"} {"concept_id": "C0426636", "aliases": ["Bowel urgency", "Faecal urgency"], "types": ["T184"], "definition": "A sudden compelling urge to defecate.", "canonical_name": "Fecal urgency"} {"concept_id": "C0426789", "aliases": ["Shorter than typical length between neck and abdomen"], "types": ["T033"], "definition": "Reduced inferior to superior extent of the thorax. [HPO:curators]", "canonical_name": "Short thorax"} {"concept_id": "C0426790", "aliases": ["Reduced anterior-posterior chest diameter", "Narrow shoulders", "Low chest circumference", "Narrow chest"], "types": ["T033"], "definition": "Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. [HPO:probinson]", "canonical_name": "Narrow thorax"} {"concept_id": "C0426799", "aliases": ["Clavicular hypoplasia", "Hypoplastic clavicles", "Short clavicles", "Underdeveloped clavicles"], "types": ["T019"], "definition": "Reduced length of the clavicles. [HPO:probinson]", "canonical_name": "Short collarbone"} {"concept_id": "C0426801", "aliases": ["Broad collarbone"], "types": ["T033"], "definition": "Increased width (cross-sectional diameter) of the clavicles. [HPO:probinson]", "canonical_name": "Broad clavicles"} {"concept_id": "C0426805", "aliases": ["Hook-shaped collarbone", "Hook-shaped clavicle", "Lateral clavicle hook", "Handlebar clavicle"], "types": ["T033"], "definition": "An excessive upward convexity of the lateral clavicle. [HPO:probinson, PMID:7322653]", "canonical_name": "Hooked clavicle"} {"concept_id": "C0426806", "aliases": [], "types": ["T033"], "canonical_name": "Bipartite clavicle"} {"concept_id": "C0426808", "aliases": ["Long clavicles", "Elongated clavicles"], "types": ["T033"], "definition": "Increased length of the clavicles. [HPO:probinson]", "canonical_name": "Long collarbone"} {"concept_id": "C0426816", "aliases": ["Decreased rib number", "Absent ribs"], "types": ["T019"], "definition": "A developmental anomaly with absence of one or more ribs. [HPO:probinson]", "canonical_name": "Missing ribs"} {"concept_id": "C0426817", "aliases": ["Short ribs", "Hypoplastic ribs"], "types": ["T033"], "definition": "Reduced rib length. [HPO:probinson]", "canonical_name": "Rib hypoplasia"} {"concept_id": "C0426818", "aliases": ["Thin ribs"], "types": ["T033"], "definition": "Ribs with a reduced diameter. [HPO:probinson]", "canonical_name": "Slender ribs"} {"concept_id": "C0426820", "aliases": [], "types": ["T033"], "definition": "Increased thickness (diameter) of ribs. [HPO:probinson]", "canonical_name": "Thickened ribs"} {"concept_id": "C0426824", "aliases": [], "types": ["T033"], "definition": "The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage. [HPO:probinson]", "canonical_name": "Beaded ribs"} {"concept_id": "C0426826", "aliases": [], "types": ["T033"], "canonical_name": "Rib flaring"} {"concept_id": "C0426827", "aliases": [], "types": ["T033"], "definition": "Radiolucent focal defect of a rib shaft. [HPO:probinson]", "canonical_name": "Rib gap"} {"concept_id": "C0426848", "aliases": ["Pilonidal dimple", "Spinal dimple"], "types": ["T033"], "definition": "A small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.", "canonical_name": "Sacral dimple"} {"concept_id": "C0426850", "aliases": ["Asymmetrical horizontal gluteal crease", "Asymmetrical gluteal sulcus", "Asymmetrical gluteal crease"], "types": ["T033"], "definition": "The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg. [PMID:29701087]", "canonical_name": "Asymmetrical buttock crease"} {"concept_id": "C0426863", "aliases": ["Bending of the arm", "Bowing of the arm"], "types": ["T033"], "canonical_name": "Bowing of the arm", "definition": "A bending or abnormal curvature affecting a long bone of the arm. [HPO:probinson]"} {"concept_id": "C0426870", "aliases": ["Large hands", "Disproportionately large hands"], "types": ["T033"], "canonical_name": "large hand"} {"concept_id": "C0426874", "aliases": ["Trident hand", "trident deformity"], "types": ["T019"], "definition": "A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits. [HPO:probinson]", "canonical_name": "trident abnormality"} {"concept_id": "C0426886", "aliases": ["Tapered fingertips", "Tapered fingers", "Tapering fingers", "Tapered finger"], "types": ["T033"], "definition": "The gradual reduction in girth of the finger from proximal to distal. [PMID:19125433]", "canonical_name": "Distally tapering fingers"} {"concept_id": "C0426891", "aliases": ["Broad phalanges of the thumb", "Broad thumbs", "Wide/broad thumb", "Broad thumb"], "types": ["T033"], "definition": "Increased thumb width without increased dorso-ventral dimension. [PMID:19125433]", "canonical_name": "Wide/broad thumb phalanges"} {"concept_id": "C0426900", "aliases": [], "types": ["T033"], "definition": "Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia. [HPO:sdoelken]", "canonical_name": "Tibial torsion"} {"concept_id": "C0426901", "aliases": ["Short legs"], "types": ["T033"], "definition": "Shortening of the legs related to developmental hypoplasia of the bones of the leg. [HPO:probinson]", "canonical_name": "Short lower limbs"} {"concept_id": "C0426970", "aliases": ["Spastic tetraplegia"], "types": ["T047"], "definition": "A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.", "canonical_name": "Spastic quadriplegia"} {"concept_id": "C0427032", "aliases": ["Stiff ankle"], "types": ["T184"], "definition": "A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity. []", "canonical_name": "Ankle stiffness"} {"concept_id": "C0427055", "aliases": ["Weakness of face", "Decreased strength of facial muscles", "Facial muscle weakness", "Weakness of facial musculature", "Decreased facial muscle strength", "Facial weakness", "Reduced facial muscle strength", "Face weakness", "Myasthenia of facial muscles"], "types": ["T047"], "definition": "A reduction in the strength of the facial muscles.", "canonical_name": "Facial paresis"} {"concept_id": "C0427063", "aliases": ["Shoulder girdle muscle weakness", "Shoulder girdle weakness", "Weak shoulder muscles"], "types": ["T033"], "definition": "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. [HPO:curators]", "canonical_name": "Muscle weakness, shoulder-girdle"} {"concept_id": "C0427064", "aliases": ["Pelvic girdle muscle weakness", "Pelvic girdle weakness", "Hip girdle muscle weakness", "Hip girdle weakness"], "types": ["T033"], "definition": "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. [HPO:probinson]", "canonical_name": "Hip-girdle muscle weakness"} {"concept_id": "C0427065", "aliases": ["Distal limb weakness", "Weakness of outermost muscles", "Distal paresis", "Muscle weakness, distal", "Muscle weakness, distal limbs, due to neuronopathy", "Distal muscular weakness", "Distal limb muscle weakness", "Weakness of distal muscles"], "types": ["T033"], "definition": "Reduced strength of the musculature of the distal extremities. [HPO:probinson]", "canonical_name": "Distal muscle weakness"} {"concept_id": "C0427068", "aliases": [], "types": ["T033"], "canonical_name": "Leg weakness"} {"concept_id": "C0427086", "aliases": ["Involuntary movements"], "types": ["T184"], "definition": "Uncontrolled and purposeless movements.", "canonical_name": "Involuntary muscle contractions"} {"concept_id": "C0427143", "aliases": [], "types": ["T033"], "definition": "A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase. [ORCID:0000-0002-6670-9157, PMID:26709688, PMID:28279852]", "canonical_name": "Crouch gait"} {"concept_id": "C0427144", "aliases": ["Tip-toe gait", "Toe walking", "Tiptoe gait"], "types": ["T033"], "definition": "An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. [PMID:24757457, PMID:26709689]", "canonical_name": "Walking on tiptoes"} {"concept_id": "C0427149", "aliases": ["Steppage gait", "'steppage' gait"], "types": ["T033"], "definition": "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. [HPO:probinson, PMID:27770207]", "canonical_name": "High stepping"} {"concept_id": "C0427163", "aliases": [], "types": ["T033"], "definition": "Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients. [PMID:27770207]", "canonical_name": "Dystonic gait"} {"concept_id": "C0427165", "aliases": ["Senile gait"], "types": ["T033"], "definition": "Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen. []", "canonical_name": "Cautious gait"} {"concept_id": "C0427190", "aliases": ["Truncal ataxia", "Instability or lack of coordination of central trunk muscles"], "types": ["T184"], "definition": "Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. [HPO:probinson, UKT:rschuele]", "canonical_name": "Trunk ataxia"} {"concept_id": "C0427437", "aliases": ["Decreased mean corpuscular hemoglobin concentration", "Decreased mean corpuscular Hb concentration", "Decreased MCHC", "Decreased mean corpuscular haemoglobin", "Decreased MCH"], "types": ["T033"], "definition": "A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. []", "canonical_name": "Decreased mean corpuscular haemoglobin concentration"} {"concept_id": "C0427444", "aliases": ["Increased mean corpuscular haemoglobin concentration", "Increased mean corpuscular haemoglobin", "Increased mean corpuscular hemoglobin concentration", "Increased MCH", "Increased mean corpuscular Hb concentration"], "types": ["T034"], "definition": "An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). []", "canonical_name": "Increased MCHC"} {"concept_id": "C0427457", "aliases": ["Decreased red blood cell count"], "types": ["T033"], "definition": "An abnormal reduction below the normal number of red blood cells per volume in the circulation. []", "canonical_name": "Decreased RBC count"} {"concept_id": "C0427458", "aliases": ["Increased red blood cell count"], "types": ["T033"], "definition": "An abnormal elevation above the normal number of red blood cells per volume in the circulation. []", "canonical_name": "Increased RBC count"} {"concept_id": "C0427480", "aliases": ["Ovalocytosis", "Elliptocytosis"], "types": ["T033"], "definition": "A peripheral blood finding in which a large number of erythrocytes are shaped in an elliptical form.", "canonical_name": "Ovalocytes"} {"concept_id": "C0427515", "aliases": ["Abnormality of neutrophil", "Abnormality of polymorphonuclear neutrophils"], "types": ["T033"], "definition": "A neutrophil abnormality. [HPO:probinson, PMID:21094463, PMID:26819959]", "canonical_name": "Abnormality of neutrophils"} {"concept_id": "C0427544", "aliases": ["Monocytopenia"], "types": ["T033"], "definition": "Abnormally low level of monocytes in the blood.", "canonical_name": "Low blood monocyte number"} {"concept_id": "C0427620", "aliases": [], "types": ["T033"], "definition": "A blood group indicating the presence on erythrocytes of only the A form of the H Antigen.", "canonical_name": "Blood group A"} {"concept_id": "C0427623", "aliases": [], "types": ["T034"], "definition": "A blood group indicating the presence on erythrocytes of only the B form of the H Antigen.", "canonical_name": "Blood group B"} {"concept_id": "C0427624", "aliases": [], "types": ["T033"], "definition": "A blood group indicating the presence on erythrocytes of both the A and B forms of the H Antigen.", "canonical_name": "Blood group AB"} {"concept_id": "C0427625", "aliases": [], "types": ["T033"], "definition": "A blood group indicating the absence on erythrocytes of both the A and B forms of the H Antigen.", "canonical_name": "Blood group O"} {"concept_id": "C0427633", "aliases": [], "types": ["T033"], "definition": "The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-. [PMID:19480920]", "canonical_name": "Duffy blood group"} {"concept_id": "C0427825", "aliases": [], "types": ["T033"], "definition": "An abnormal orange color of urine. [PMID:18613989, PMID:29967083]", "canonical_name": "Orange urine"} {"concept_id": "C0427837", "aliases": [], "types": ["T033"], "canonical_name": "Turbid urine"} {"concept_id": "C0427877", "aliases": ["CSF lymphocytic pleiocytosis"], "types": ["T034"], "definition": "An increased lymphocyte count in the cerebrospinal fluid. [KI:phemming]", "canonical_name": "CSF lymphocytosis"} {"concept_id": "C0427895", "aliases": ["Cellular casts"], "types": ["T033"], "definition": "A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells). []", "canonical_name": "Cellular urinary casts"} {"concept_id": "C0428282", "aliases": ["Low blood creatinine level", "Decreased serum creatinine"], "types": ["T033"], "definition": "An abnormally reduced amount of creatinine in the blood. [HPO:probinson]", "canonical_name": "Reduced creatinine levels"} {"concept_id": "C0428553", "aliases": ["Increased CSF glucose"], "types": ["T033"], "definition": "Abnormally high glucose concentration in the cerebrospinal fluid. [HPO:nvasilevsky]", "canonical_name": "Hyperglycorrhachia"} {"concept_id": "C0428791", "aliases": [], "types": ["T047"], "definition": "Deposition of calcium salts in the aortic valve. [HPO:probinson]", "canonical_name": "Aortic valve calcification"} {"concept_id": "C0428851", "aliases": [], "types": ["T047"], "definition": "An abnormal widening of the diameter of the pulmonary artery. [HPO:probinson]", "canonical_name": "Pulmonary artery dilatation"} {"concept_id": "C0428870", "aliases": [], "types": ["T033"], "definition": "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. [HPO:mhaendel]", "canonical_name": "Left-to-right shunt"} {"concept_id": "C0428871", "aliases": [], "types": ["T033"], "definition": "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. [HPO:mhaendel]", "canonical_name": "Right-to-left shunt"} {"concept_id": "C0428872", "aliases": [], "types": ["T033"], "definition": "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa. [HPO:mhaendel]", "canonical_name": "Bidirectional shunt"} {"concept_id": "C0428974", "aliases": ["arrhythmias, Supraventricular"], "types": ["T047"], "definition": "A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. [HPO:probinson]", "canonical_name": "Supraventricular arrhythmia"} {"concept_id": "C0428977", "aliases": ["Bradycardia", "Slow heartbeats"], "types": ["T033"], "definition": "Cardiac arrhythmias that are characterized by excessively slow HEART RATE, usually below 50 beats per minute in human adults. They can be classified broadly into SINOATRIAL NODE dysfunction and ATRIOVENTRICULAR BLOCK.", "canonical_name": "Brachycardia"} {"concept_id": "C0429001", "aliases": ["Doublet premature ventricular contractions"], "types": ["T033"], "definition": "An electrocardiographic finding in which two premature ventricular complexes occur sequentially. (CDISC)", "canonical_name": "Ventricular couplet"} {"concept_id": "C0429349", "aliases": [], "types": ["T033"], "definition": "These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform. [PMID:15961866]", "canonical_name": "EMG: positive sharp waves"} {"concept_id": "C0429803", "aliases": ["Bladder trabeculation"], "types": ["T190"], "definition": "Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface. [ORCID:0000-0001-5208-3432, PMID:28904941]", "canonical_name": "Trabecular bladder"} {"concept_id": "C0431109", "aliases": [], "types": ["T191"], "definition": "A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)", "canonical_name": "Choroid plexus carcinoma"} {"concept_id": "C0431289", "aliases": [], "types": ["T019"], "canonical_name": "Frontal encephalocele"} {"concept_id": "C0431291", "aliases": ["Naso-frontal encephalocele"], "types": ["T019"], "canonical_name": "Nasofrontal encephalocele"} {"concept_id": "C0431294", "aliases": [], "types": ["T019"], "definition": "An encephalocele located between bregma and lambda. [DDD:awilkie, PMID:2773494]", "canonical_name": "Parietal encephalocele"} {"concept_id": "C0431344", "aliases": [], "types": ["T019"], "definition": "A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life. [UToronto:chum]", "canonical_name": "Lipomeningocele"} {"concept_id": "C0431348", "aliases": [], "types": ["T019"], "definition": "A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops). [PMID:26260203]", "canonical_name": "Atelencephaly"} {"concept_id": "C0431349", "aliases": [], "types": ["T019"], "definition": "A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary.", "canonical_name": "Aprosencephaly"} {"concept_id": "C0431352", "aliases": ["Acquired microcephaly", "Microcephaly, acquired", "Microcephaly, postnatal", "Deceleration of head growth", "Postnatal deceleration of head circumference", "Secondary microcephaly", "Postnatal microcephaly"], "types": ["T033"], "definition": "Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. [HPO:probinson]", "canonical_name": "Development of small head that was not present at birth"} {"concept_id": "C0431362", "aliases": [], "types": ["T019"], "definition": "A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. [gc:hpe]", "canonical_name": "Lobar holoprosencephaly"} {"concept_id": "C0431363", "aliases": [], "types": ["T019"], "definition": "A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged. [gc:hpe]", "canonical_name": "Alobar holoprosencephaly"} {"concept_id": "C0431368", "aliases": ["Partial agenesis of the corpus callosum", "Partial agenesis of corpus callosum", "Partial corpus callosum agenesis"], "types": ["T019"], "definition": "Partial agenesis of the corpus callosum with mental retardation, and seizures. Microcephaly, characteristic facies, hydrocephalus, and intrahemispheric cysts occur in some cases.", "canonical_name": "Corpus callosum agenesis, partial"} {"concept_id": "C0431369", "aliases": ["Dysplasia of corpus callosum", "Dysgenesis of corpus callosum"], "types": ["T019"], "definition": "Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. [HPO:probinson, PMID:21263138]", "canonical_name": "Dysplastic corpus callosum"} {"concept_id": "C0431370", "aliases": ["Corpus callosum atrophy", "Atrophy/Degeneration of the corpus callosum", "Atrophy of the corpus callosum"], "types": ["T047"], "definition": "The presence of atrophy (wasting) of the corpus callosum. [HPO:sdoelken]", "canonical_name": "Atrophic corpus callosum"} {"concept_id": "C0431371", "aliases": ["Missing septum pellucidum", "Absent septum pellucidum", "Absence of septum pellucidum", "Agenesis of the septum pellucidum"], "types": ["T019"], "definition": "Absence of the septum pellucidum. [HPO:probinson]", "canonical_name": "Absence of the septum pellucidum"} {"concept_id": "C0431375", "aliases": ["Four-layered lissencephaly", "Classic lissencephaly", "4-layered lissencephaly", "Type 1 lissencephaly", "Lissencephaly, type I"], "types": ["T047"], "definition": "A genetic disorder caused by mutations in the LIS1, XLIS, or TUBA1A genes. It results in brain malformation characterized by the underdevelopment or absence of gyri or ridges in the cerebral cortex. Signs and symptoms include epilepsy and mental retardation.", "canonical_name": "Type I lissencephaly"} {"concept_id": "C0431376", "aliases": ["Type II lissencephaly", "Cobblestone lissencephaly", "Type 2 lissencephaly"], "types": ["T019"], "definition": "The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.", "canonical_name": "Lissencephaly type II"} {"concept_id": "C0431380", "aliases": ["Cortical dysplasia"], "types": ["T019"], "definition": "Malformation of the cerebral cortex due to improper migration of neurons in utero.", "canonical_name": "Neocortical dysplasia"} {"concept_id": "C0431384", "aliases": [], "types": ["T019"], "definition": "Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. [PMID:4058748]", "canonical_name": "Colpocephaly"} {"concept_id": "C0431391", "aliases": [], "types": ["T047"], "definition": "Rare MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I characterized by the enlargement of one side of the brain. It is associated with seizures, partial paralysis, and mental retardation.", "canonical_name": "Hemimegalencephaly"} {"concept_id": "C0431399", "aliases": ["Cerebellar vermis aplasia", "Agenesis of cerebellar vermis"], "types": ["T047"], "definition": "A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.", "canonical_name": "Vermian agenesis"} {"concept_id": "C0431406", "aliases": ["Partial unilateral facial paresis"], "types": ["T047"], "definition": "Unilateral facial weakness which may be associated with heart defects. The face appears symmetric at rest, the mouth being pulled downward to one side when crying owing to unilateral partial weakness involving the lip depressor muscle (depressor anguli oris). Genitourinary, respiratory, and other abnormalities may be associated. Mental retardation in some cases.", "canonical_name": "Asymmetric crying face"} {"concept_id": "C0431414", "aliases": ["Sacral dysgenesis", "Absence of some of the sacral and coccygeal bones", "Partial sacral agenesis"], "types": ["T019"], "definition": "A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally. []", "canonical_name": "Dysplastic sacrum"} {"concept_id": "C0431420", "aliases": ["Vein of Galen malformation", "Vein of Galen aneurysm", "Median prosencephalic arteriovenous fistula"], "types": ["T047"], "definition": "Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen. [PMID:32706613, PMID:33168212, UToronto:chum]", "canonical_name": "Vein of Galen aneurysmal malformation"} {"concept_id": "C0431447", "aliases": ["Monobrow", "Unibrow", "Synophris"], "types": ["T019"], "definition": "Meeting of the medial eyebrows in the midline. [PMID:19125427]", "canonical_name": "Synophrys"} {"concept_id": "C0431448", "aliases": ["Absent eyebrows", "Missing eyebrows", "Failure of development of eyebrows"], "types": ["T019"], "definition": "Absence of the eyebrow. [HPO:probinson]", "canonical_name": "Absent eyebrow"} {"concept_id": "C0431449", "aliases": ["Duplication of eyebrow"], "types": ["T019"], "definition": "This may present as a partial or complete duplication of the eyebrows. [HPO:sdoelken]", "canonical_name": "Double eyebrow"} {"concept_id": "C0431451", "aliases": [], "types": ["T019"], "canonical_name": "Megalophthalmos"} {"concept_id": "C0431460", "aliases": ["Eyes at different heights", "Misaligned eyes", "Vertical orbital dystopia"], "types": ["T019"], "definition": "The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other. [HPO:probinson, PMID:7795293]", "canonical_name": "Unequal eye height"} {"concept_id": "C0431478", "aliases": ["Posteriorly rotated auricles", "Ear, posterior angulation, increased", "Posteriorly-rotated ears", "Posteriorly angulated ears", "Posteriorly rotated ears", "Ears rotated toward back of head", "Posteriorly-angulated ears"], "types": ["T019"], "definition": "A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). [HPO:probinson, PMID:19152421]", "canonical_name": "Posteriorly rotated"} {"concept_id": "C0431483", "aliases": [], "types": ["T019"], "definition": "The pinna has fewer folds and grooves than usual. [PMID:15523657]", "canonical_name": "Simple ear"} {"concept_id": "C0431501", "aliases": ["Bilateral ductus botalli"], "types": ["T019"], "definition": "The presence of both a left and a right ductus arteriosus. [DDD:dbrown]", "canonical_name": "Bilateral ductus arteriosus"} {"concept_id": "C0431527", "aliases": ["Hypoplastic larynx"], "types": ["T019"], "definition": "Underdevelopment of the larynx. [HPO:probinson]", "canonical_name": "Laryngeal hypoplasia"} {"concept_id": "C0431564", "aliases": ["Lobulated tongue", "Bumpy tongue", "Lingual lobules"], "types": ["T019"], "definition": "Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. [PMID:19125428]", "canonical_name": "Lobulate tongue"} {"concept_id": "C0431565", "aliases": ["Hamartoma of tongue"], "types": ["T033"], "definition": "A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. [HPO:probinson, PMID:17667541]", "canonical_name": "Lingual hamartoma"} {"concept_id": "C0431603", "aliases": [], "types": ["T019"], "definition": "Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter. [HPO:probinson, PMID:11988792, PMID:637502]", "canonical_name": "Ectopic liver"} {"concept_id": "C0431646", "aliases": ["Aplasia of the lower vagina", "Absent lower vagina"], "types": ["T019"], "definition": "A failure to develop of the lower part of the vagina. [HPO:probinson]", "canonical_name": "Agenesis of the lower vagina"} {"concept_id": "C0431663", "aliases": ["Cryptorchidism, bilateral"], "types": ["T019"], "definition": "Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. [HPO:probinson]", "canonical_name": "Bilateral cryptorchidism"} {"concept_id": "C0431664", "aliases": ["Cryptorchidism, unilateral"], "types": ["T019"], "definition": "Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. [HPO:probinson]", "canonical_name": "Unilateral cryptorchidism"} {"concept_id": "C0431670", "aliases": [], "types": ["T019"], "definition": "Ventral skinfold extending from penis to scrotum. [PMID:23650202]", "canonical_name": "Webbed penis"} {"concept_id": "C0431691", "aliases": ["Underdeveloped kidney on one side", "Unilateral renal hypoplasia"], "types": ["T019"], "definition": "One sided hypoplasia of the kidney. [Eurenomics:fschaefer]", "canonical_name": "Small kidney on one side"} {"concept_id": "C0431692", "aliases": [], "types": ["T019"], "definition": "Two sided hypoplasia of the kidney. [Eurenomics:fschaefer]", "canonical_name": "Bilateral renal hypoplasia"} {"concept_id": "C0431697", "aliases": [], "types": ["T019"], "canonical_name": "Unilateral renal dysplasia", "definition": "A unilateral form of developmental dysplasia of the kidney. [HPO:probinson]"} {"concept_id": "C0431698", "aliases": [], "types": ["T019"], "definition": "A finding of congenital malformations in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation.", "canonical_name": "Bilateral renal dysplasia"} {"concept_id": "C0431718", "aliases": ["Multiple kidney cysts"], "types": ["T047"], "definition": "The presence of many cysts in the kidney. [Eurenomics:ewuehl]", "canonical_name": "Multiple renal cysts"} {"concept_id": "C0431799", "aliases": ["Humeral ulnar synostosis"], "types": ["T019"], "definition": "An abnormal osseous union (fusion) between the ulna and the humerus. [HPO:curators]", "canonical_name": "Humeroulnar synostosis"} {"concept_id": "C0431810", "aliases": ["Hemihypertrophy of upper limb"], "types": ["T019"], "definition": "Overgrowth of only one arm. [HPO:probinson]", "canonical_name": "Overgrowth of one arm"} {"concept_id": "C0431814", "aliases": ["Asymmetric upper limb shortening", "Hemiatrophy of upper limb"], "types": ["T019"], "definition": "Unilateral atrophy (reduction in size) of an arm. [HPO:probinson]", "canonical_name": "Hemihypotrophy of upper limb"} {"concept_id": "C0431863", "aliases": ["Carpal synostosis", "Carpal fusion", "Fusion of carpal bones", "Carpal bone fusion", "Fused carpal bones", "Synostosis involving the carpal bones"], "types": ["T019"], "definition": "Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). [HPO:probinson]", "canonical_name": "Fused wrist bones"} {"concept_id": "C0431886", "aliases": ["Thumb-in-palm deformity", "Thumb-in-palm pattern", "Adducted thumbs", "Adducted thumb"], "types": ["T019"], "definition": "In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. [ORCID:0000-0002-6670-9157, PMID:16235349, PMID:19125433]", "canonical_name": "Inward turned thumb"} {"concept_id": "C0431887", "aliases": ["Hitchhiker thumb"], "types": ["T019"], "definition": "With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. [HPO:probinson, PMID:19125433]", "canonical_name": "Abducted thumb"} {"concept_id": "C0431890", "aliases": ["Hypoplastic thumb", "Small thumbs", "Hypoplastic thumbs", "Short thumb", "Thumb brachydactyly", "Hypoplastic/small thumb", "Short thumbs"], "types": ["T019"], "definition": "A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities.", "canonical_name": "Thumb hypoplasia"} {"concept_id": "C0431903", "aliases": ["Mesoaxial polydactyly", "Central polydactyly"], "types": ["T019"], "definition": "The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. [PMID:19125433]", "canonical_name": "Intercalary polydactyly"} {"concept_id": "C0431904", "aliases": ["Postaxial hand polydactyly", "Postaxial polydactyly of hands", "Postaxial polydactyly of fingers", "Extra pinkie finger", "Postaxial polydactyly of hand", "Polydactyly affecting the 5th finger", "Extra pinky finger"], "types": ["T019"], "definition": "Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). [HPO:sdoelken]", "canonical_name": "Extra little finger"} {"concept_id": "C0431928", "aliases": ["Hemihypertrophy of lower limb"], "types": ["T019"], "definition": "Overgrowth of only one leg. [HPO:probinson]", "canonical_name": "Overgrowth of one leg"} {"concept_id": "C0431934", "aliases": ["Asymmetric lower limb shortening"], "types": ["T019"], "definition": "Unilateral atrophy (reduction in size) of a leg. [HPO:probinson]", "canonical_name": "Hemiatrophy of lower limb"} {"concept_id": "C0431996", "aliases": [], "types": ["T019"], "definition": "Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb. [PMID:21438051, PMID:23915863, UToronto:chum]", "canonical_name": "Proximal femoral focal deficiency"} {"concept_id": "C0432028", "aliases": ["Split-foot", "Lobster-claw foot deformity", "Split foot"], "types": ["T019"], "definition": "A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. [HPO:sdoelken]", "canonical_name": "Foot ectrodactyly"} {"concept_id": "C0432034", "aliases": [], "types": ["T019"], "definition": "A hallux (big toe) with three phalanges in a single, proximo-distal axis. [PMID:19760621, PMID:22486404]", "canonical_name": "Triphalangeal hallux"} {"concept_id": "C0432040", "aliases": ["Webbed skin of 2nd-3rd toes", "2-3 toe cutaneous syndactyly", "Cutaneous syndactyly of second and third toes", "Complete cutaneous syndactyly of second and third toes"], "types": ["T019"], "canonical_name": "Cutaneous 2,3 toe syndactyly"} {"concept_id": "C0432055", "aliases": ["Webbed 2nd-3rd fingers", "Syndactyly, 2-3 finger", "2-3 finger syndactyly"], "types": ["T019"], "definition": "Syndactyly with fusion of fingers two and three. [HPO:sdoelken]", "canonical_name": "Syndactyly 2nd-3rd fingers"} {"concept_id": "C0432073", "aliases": ["Poorly mineralized skull", "Ossification defect of skull", "Hypoossification of skull", "Deficient skull ossification", "Poorly ossified skull", "Decreased skull ossification", "Poorly ossified skull bones"], "types": ["T019"], "definition": "A reduction in the magnitude or amount of ossification of the skull. [HPO:probinson]", "canonical_name": "Decreased bone formation of skull"} {"concept_id": "C0432084", "aliases": ["Alveolar cleft", "Cleft primary palate", "Cleft maxillary alveolus"], "types": ["T019"], "definition": "Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine. []", "canonical_name": "Cleft anterior maxilla"} {"concept_id": "C0432090", "aliases": ["Cleft bony palate", "Cleft of hard palate"], "types": ["T019"], "canonical_name": "Cleft hard palate"} {"concept_id": "C0432098", "aliases": ["Cleft soft palate", "Cleft muscular palate", "Cleft of soft palate"], "types": ["T019"], "definition": "Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. [HPO:curators]", "canonical_name": "Cleft velum"} {"concept_id": "C0432103", "aliases": ["Partial thickness cleft hard palate", "Submucous cleft hard palate"], "types": ["T019"], "definition": "Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. [HPO:probinson, PMID:19779505]", "canonical_name": "Submucosal cleft palate"} {"concept_id": "C0432119", "aliases": [], "types": ["T019"], "definition": "The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium. [PMID:2503273]", "canonical_name": "Tessier number 5 facial cleft"} {"concept_id": "C0432120", "aliases": ["Tessier facial cleft number 6"], "types": ["T019"], "definition": "A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid. [PMID:2503273]", "canonical_name": "Tessier number 6 facial cleft"} {"concept_id": "C0432122", "aliases": ["Metopic craniosynostosis"], "types": ["T019"], "canonical_name": "Metopic suture craniosynostosis"} {"concept_id": "C0432123", "aliases": ["Sagittal craniosynostosis", "Craniosynostosis, sagittal suture", "Midline skull joint closes early", "Sagittal suture synostosis", "Craniosynostosis, sagittal"], "types": ["T019"], "definition": "A kind of craniosynostosis affecting the sagittal suture. [HPO:probinson]", "canonical_name": "Early closure of midline skull joint"} {"concept_id": "C0432124", "aliases": [], "types": ["T019"], "canonical_name": "Unicoronal craniosynostosis"} {"concept_id": "C0432149", "aliases": [], "types": ["T019"], "definition": "Absence of one half of the vertebral body in the lumbar spine. [HPO:probinson]", "canonical_name": "Lumbar hemivertebrae"} {"concept_id": "C0432152", "aliases": [], "types": ["T019"], "definition": "Absence of one half of the vertebral body in the thoracic spine. [HPO:probinson]", "canonical_name": "Thoracic hemivertebrae"} {"concept_id": "C0432155", "aliases": [], "types": ["T019"], "definition": "Absence of one half of the vertebral body in the cervical spine. []", "canonical_name": "Cervical hemivertebrae"} {"concept_id": "C0432160", "aliases": ["Cervical vertebral agenesis", "Cervical vertebrae agenesis"], "types": ["T019"], "definition": "Agenesis of one or more vertebrae of the cervical vertebral column. [HPO:probinson]", "canonical_name": "Missing cervical vertebrae"} {"concept_id": "C0432163", "aliases": ["Abnormal spinal segmentation"], "types": ["T019"], "definition": "An abnormality related to a defect of vertebral separation during development. [HPO:probinson, PMID:23653580, PMID:23801490]", "canonical_name": "Vertebral segmentation defect"} {"concept_id": "C0432185", "aliases": ["Congenital absence of muscles", "Amyoplasia"], "types": ["T019"], "definition": "Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. [HPO:probinson, Neuromics:vstraub]", "canonical_name": "Absent muscles since birth"} {"concept_id": "C0432194", "aliases": [], "types": ["T047"], "definition": "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.", "canonical_name": "Schneckenbecken dysplasia"} {"concept_id": "C0432211", "aliases": [], "types": ["T047"], "canonical_name": "Spondyloepimetaphyseal dysplasia"} {"concept_id": "C0432321", "aliases": ["Pretibial blistering"], "types": ["T019"], "definition": "A type of blistering that affects the skin of the tibial region. [HPO:probinson, PMID:15265795]", "canonical_name": "Pretibial epidermolysis bullosa"} {"concept_id": "C0432333", "aliases": ["Abnormal dermatoglyphics", "Dermatoglyphic abnormalities"], "types": ["T019"], "definition": "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. [HPO:probinson]", "canonical_name": "Abnormal fingerprints"} {"concept_id": "C0432355", "aliases": ["Hypoplastic nipples", "Nipple hypoplasia"], "types": ["T019"], "definition": "Underdevelopment of the nipple. [HPO:probinson]", "canonical_name": "Small nipples"} {"concept_id": "C0432363", "aliases": [], "types": ["T019"], "definition": "A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather. [HPO:curators, PMID:10695583]", "canonical_name": "Shagreen patch"} {"concept_id": "C0434717", "aliases": [], "types": ["T037"], "canonical_name": "Dislocation of toes"} {"concept_id": "C0434744", "aliases": ["Shoulder subluxation"], "types": ["T037"], "definition": "A partial dislocation of the shoulder joint. [HPO:curators]", "canonical_name": "Partial shoulder dislocation"} {"concept_id": "C0434785", "aliases": ["Partial hip dislocation", "Hip subluxation"], "types": ["T037"], "definition": "A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket. []", "canonical_name": "Subluxation involving the hip joint"} {"concept_id": "C0435632", "aliases": ["Fractured hand bones"], "types": ["T037"], "definition": "A traumatic break in one or more of the bones in the hand.", "canonical_name": "Broken hand bones"} {"concept_id": "C0435943", "aliases": [], "types": ["T037"], "canonical_name": "Metatarsal fracture"} {"concept_id": "C0436331", "aliases": ["Exacerbated by"], "types": ["T033"], "definition": "**Description:**The source act is aggravated by the target act. (Example \"chest pain\" EXACBY \"exercise\")
", "canonical_name": "Aggravated by"} {"concept_id": "C0438098", "aliases": [], "types": ["T033"], "definition": "One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation). []", "canonical_name": "History of stillbirth"} {"concept_id": "C0438217", "aliases": ["Abnormal Westergren sedimentation rate", "Abnormal erythrocyte sedimentation rate"], "types": ["T033"], "definition": "A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. [PMID:10524488]", "canonical_name": "Abnormal ESR"} {"concept_id": "C0438237", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal liver enzymes"} {"concept_id": "C0438242", "aliases": ["Abnormal BUN concentration"], "types": ["T033"], "definition": "Any deviation from the normal concentration of urea nitrogen in the blood. []", "canonical_name": "Abnormal blood urea nitrogen concentration"} {"concept_id": "C0438434", "aliases": [], "types": ["T184"], "canonical_name": "Ring scotoma"} {"concept_id": "C0438717", "aliases": ["Elevated serum transaminases", "Increased transaminases"], "types": ["T033"], "canonical_name": "Elevated transaminases"} {"concept_id": "C0438750", "aliases": [], "types": ["T033"], "definition": "The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets. [PMID:13171348]", "canonical_name": "Urinary oval fat bodies"} {"concept_id": "C0439590", "aliases": [], "types": ["T079"], "definition": "Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection). []", "canonical_name": "Prolonged"} {"concept_id": "C0439596", "aliases": ["Cyclical"], "types": ["T079"], "canonical_name": "Cyclic"} {"concept_id": "C0439701", "aliases": [], "types": ["T080"], "definition": "Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent. []", "canonical_name": "Morbilliform"} {"concept_id": "C0439739", "aliases": [], "types": ["T082"], "definition": "Applies to an abnormality whose distribution and appearance resembles a net or network-like structure. []", "canonical_name": "Reticular"} {"concept_id": "C0439746", "aliases": [], "types": ["T082"], "definition": "Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose). []", "canonical_name": "Acral"} {"concept_id": "C0439808", "aliases": [], "types": ["T080"], "definition": "Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. [HPO:probinson]", "canonical_name": "Profound"} {"concept_id": "C0441748", "aliases": ["Autosomal recessive form", "Autosomal recessive"], "types": ["T045"], "definition": "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:probinson]", "canonical_name": "Autosomal recessive inheritance"} {"concept_id": "C0442080", "aliases": [], "types": ["T082"], "definition": "Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs. []", "canonical_name": "Centrilobular"} {"concept_id": "C0442144", "aliases": [], "types": ["T082"], "definition": "Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. []", "canonical_name": "Paraseptal"} {"concept_id": "C0442774", "aliases": [], "types": ["T033"], "canonical_name": "Visual acuity no light perception"} {"concept_id": "C0442874", "aliases": [], "types": ["T047"], "definition": "A disorder affecting the cranial nerves or the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.", "canonical_name": "Neuropathy"} {"concept_id": "C0442880", "aliases": ["Periungual fibroma", "Koenen tumor", "Parungual fibromas", "Koenen's tumor", "Koenen tumour", "Koenen's tumour"], "types": ["T191"], "definition": "Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate). [HPO:probinson, PMID:18815399]", "canonical_name": "Ungual fibroma"} {"concept_id": "C0443147", "aliases": ["Autosomal dominant type", "Autosomal dominant inheritance", "Autosomal dominant form"], "types": ["T045"], "definition": "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [HPO:curators]", "canonical_name": "Autosomal dominant"} {"concept_id": "C0443246", "aliases": ["Left"], "types": ["T082"], "definition": "An abnormal transposition to the left side.", "canonical_name": "Left-sided"} {"concept_id": "C0444532", "aliases": ["Right"], "types": ["T082"], "definition": "Pertaining to the physical area of an object that is located to the right of its center.", "canonical_name": "Right-sided"} {"concept_id": "C0444868", "aliases": [], "types": ["T081"], "definition": "To a complete degree or to the full or entire extent.", "canonical_name": "All"} {"concept_id": "C0445118", "aliases": [], "types": ["T033"], "definition": "In children, urine protein greater than or equal to 40mg/m^2/h; alternatively, greater than or equal to 0.25gm/mmol creatinine or 2gm/gm creatinine obtained from a first morning specimen.", "canonical_name": "Nephrotic range proteinuria"} {"concept_id": "C0445347", "aliases": [], "types": ["T033"], "definition": "Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. [HPO:probinson]", "canonical_name": "Thickened glomerular basement membrane"} {"concept_id": "C0447996", "aliases": [], "types": ["T033"], "canonical_name": "Maxillary torus"} {"concept_id": "C0449259", "aliases": [], "types": ["T079"], "definition": "A term that refers to the nature and/or clinical outcome of a disease (e.g., acute or chronic disease, aggressive or indolent disease, recurrent disease, etc.).", "canonical_name": "Clinical course"} {"concept_id": "C0452136", "aliases": ["Bilateral conductive deafness", "Bilateral conductive hearing impairment"], "types": ["T047"], "definition": "A bilateral type of conductive hearing impairment. [HPO:probinson]", "canonical_name": "Bilateral conductive hearing loss"} {"concept_id": "C0452138", "aliases": ["Bilateral nerve deafness", "Bilateral sensorineural deafness", "Bilateral sensorineural hearing impairment", "Bilateral sensorineural hearing loss"], "types": ["T047"], "definition": "A bilateral form of sensorineural hearing impairment. [HPO:probinson]", "canonical_name": "Hearing loss, sensorineural, bilateral"} {"concept_id": "C0452147", "aliases": [], "types": ["T019"], "definition": "A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. [HPO:probinson]", "canonical_name": "Penoscrotal hypospadias"} {"concept_id": "C0452148", "aliases": [], "types": ["T019"], "definition": "Hypospadias with location of the urethral meatus in the perineal region. [HPO:probinson, PMID:8097257]", "canonical_name": "Perineal hypospadias"} {"concept_id": "C0452168", "aliases": [], "types": ["T019"], "canonical_name": "Glandular hypospadias"} {"concept_id": "C0454455", "aliases": ["Bimanual synkinesia", "Hand mirror movements", "Mirror movements"], "types": ["T047"], "definition": "Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand. [HPO:probinson, PMID:22412265, PMID:28945198]", "canonical_name": "Mirror hand movements"} {"concept_id": "C0454555", "aliases": ["Hypernasal speech"], "types": ["T033"], "canonical_name": "Hypernasal voice"} {"concept_id": "C0454578", "aliases": ["Receptive aphasia"], "types": ["T048"], "definition": "A type of aphasia that is characterized by impaired language comprehension. [PMID:28722980]", "canonical_name": "Fluent aphasia"} {"concept_id": "C0454596", "aliases": ["Rigid dysarthria"], "types": ["T033"], "definition": "A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. [HPO:probinson]", "canonical_name": "Spastic dysarthria"} {"concept_id": "C0454641", "aliases": [], "types": ["T047"], "definition": "A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [HPO:probinson]", "canonical_name": "Expressive language delay"} {"concept_id": "C0454642", "aliases": [], "types": ["T048"], "definition": "A delay in the acquisition of the ability to understand the speech of others. [HPO:probinson]", "canonical_name": "Receptive language delay"} {"concept_id": "C0454644", "aliases": ["Impaired speech and language development", "Speech and language difficulties", "Speech and language delay"], "types": ["T033"], "definition": "A degree of language development that is significantly below the norm for a child of a specified age. [HPO:probinson]", "canonical_name": "Delayed speech and language development"} {"concept_id": "C0455458", "aliases": [], "types": ["T033"], "definition": "Actions performed to obtain information about past illness and health status", "canonical_name": "Past medical history"} {"concept_id": "C0455792", "aliases": ["Small scrotum", "Scrotal hypoplasia", "Underdeveloped scrotum", "Hypoplastic scrotum"], "types": ["T033"], "definition": "Apparently small scrotum for age. [PMID:23650202]", "canonical_name": "Smaller than typical growth of scrotum"} {"concept_id": "C0455938", "aliases": ["Increased size of nasopharyngeal adenoids"], "types": ["T033"], "definition": "An abnormal increase in the size of nasopharyngeal adenoids. []", "canonical_name": "Adenoids large"} {"concept_id": "C0455988", "aliases": ["Hydrops fetalis, nonimmune", "Hydrops fetalis, non-immune", "Nonimmune hydrops fetalis", "Non-immune fetal hydrops", "Non-immune foetal hydrops"], "types": ["T047"], "definition": "Fluid accumulation in multiple fetal anatomic cavities that is of non-immune origin.", "canonical_name": "Nonimmune hydrops"} {"concept_id": "C0456070", "aliases": ["Delayed growth", "Growth delay"], "types": ["T046"], "definition": "A deficiency or slowing down of growth pre- and postnatally. [HPO:probinson]", "canonical_name": "Growth deficiency"} {"concept_id": "C0456103", "aliases": [], "types": ["T047"], "definition": "An infectious disorder of newborn infants that is characterized by a systemic inflammatory response most commonly caused by bacteria.", "canonical_name": "Neonatal sepsis"} {"concept_id": "C0456132", "aliases": ["Wide fontanelles", "Persistent wide fontanel", "Large fontanel", "Large fontanels", "Large fontanelles", "Enlarged fontanelles"], "types": ["T033"], "definition": "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. [HPO:probinson]", "canonical_name": "Large fontanelle"} {"concept_id": "C0456133", "aliases": ["Small soft spot", "Small fontanelle", "Microfontanelle"], "types": ["T033"], "definition": "A fontanelle that is small for age. [HPO:probinson, PMID:12825844]", "canonical_name": "Little fontanelle"} {"concept_id": "C0456498", "aliases": [], "types": ["T033"], "canonical_name": "Fluid behind eardrum"} {"concept_id": "C0456511", "aliases": [], "types": ["T047"], "definition": "A common condition characterized by transient partial or total paralysis of skeletal muscles and areflexia that occurs upon awakening from sleep or less often while falling asleep. Stimuli such as touch or sound may terminate the episode, which usually has a duration of seconds to minutes. This condition may occur in normal subjects or be associated with NARCOLEPSY; CATAPLEXY; and hypnagogic HALLUCINATIONS. The pathophysiology of this condition is closely related to the normal hypotonia that occur during REM sleep. (From Adv Neurol 1995;67:245-271)", "canonical_name": "Sleep paralysis"} {"concept_id": "C0456773", "aliases": [], "types": ["T033"], "definition": "An auscultated finding in which the sounds comprising the first heart sound are louder than normal. (ACC-AHA)", "canonical_name": "Loud first heart sound"} {"concept_id": "C0456814", "aliases": ["Lacking in initiative", "Diminished motivation", "Lack of initiative", "Lack of motivation"], "types": ["T033"], "definition": "A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. [HPO:probinson, PMID:16030444]", "canonical_name": "Lacks initiative"} {"concept_id": "C0456892", "aliases": ["Decreased intracranial pressure"], "types": ["T033"], "definition": "A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. [HPO:probinson]", "canonical_name": "Intracranial hypotension"} {"concept_id": "C0456909", "aliases": ["Blindness"], "types": ["T047"], "definition": "The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.", "canonical_name": "Total vision loss"} {"concept_id": "C0457085", "aliases": ["Toe dactylitis"], "types": ["T033"], "definition": "Toes appear swollen and plump owing to inflammation of the complete toe. []", "canonical_name": "Sausage toes"} {"concept_id": "C0457357", "aliases": [], "types": ["T080"], "definition": "Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110). []", "canonical_name": "Fracture type"} {"concept_id": "C0457433", "aliases": ["Hemiplegia (right)"], "types": ["T033"], "canonical_name": "Right hemiplegia"} {"concept_id": "C0457434", "aliases": ["Left hemiplegia"], "types": ["T033"], "canonical_name": "Hemiplegia (left)"} {"concept_id": "C0457756", "aliases": [], "types": ["T033"], "definition": "Tooth Absent
", "canonical_name": "Missing teeth"} {"concept_id": "C0458247", "aliases": [], "types": ["T184"], "definition": "Pain caused by a stimulus that would not normally provoke pain.", "canonical_name": "Allodynia"} {"concept_id": "C0459667", "aliases": [], "types": ["T023"], "definition": "Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells. []", "canonical_name": "Conjunctival papillae"} {"concept_id": "C0472376", "aliases": ["Thalamic hemorrhage"], "types": ["T046"], "definition": "Bleeding in the thalamus. []", "canonical_name": "Thalamic haemorrhage"} {"concept_id": "C0473124", "aliases": [], "types": ["T046"], "definition": "A collection of blood around the kidney.", "canonical_name": "Perirenal hematoma"} {"concept_id": "C0473133", "aliases": ["Protracted diarrhea"], "types": ["T047"], "canonical_name": "Protracted diarrhoea"} {"concept_id": "C0473237", "aliases": ["Macroscopic hematuria", "Gross hematuria"], "types": ["T033"], "definition": "The visible presence of blood in the urine.", "canonical_name": "Bloody urine"} {"concept_id": "C0473311", "aliases": [], "types": ["T020"], "definition": "An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst. [HPO:probinson, PMID:12928726]", "canonical_name": "Hemorrhagic ovarian cyst"} {"concept_id": "C0473527", "aliases": [], "types": ["T047"], "definition": "Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS.", "canonical_name": "Hypoalphalipoproteinemia"} {"concept_id": "C0474355", "aliases": [], "types": ["T047"], "definition": "A type of retinal neovascularization that affects the periphery of the retina. [HPO:probinson, PMID:22076700]", "canonical_name": "Peripheral retinal neovascularization"} {"concept_id": "C0474357", "aliases": ["Flame-shaped retinal haemorrhage", "Flame-shaped retinal hemorrhage", "Linear retina heme"], "types": ["T047"], "definition": "A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells). []", "canonical_name": "Feathered retinal heme"} {"concept_id": "C0474358", "aliases": ["Round retinal heme", "Dot-and-blot retinal haemorrhage"], "types": ["T046"], "definition": "Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location. []", "canonical_name": "Dot-and-blot retinal hemorrhage"} {"concept_id": "C0474420", "aliases": ["Inappropriate sexual behaviour"], "types": ["T033"], "canonical_name": "Inappropriate sexual behavior"} {"concept_id": "C0474444", "aliases": ["Corneal stromal oedema"], "types": ["T033"], "definition": "Fluid from the aqueous humor enters the corneal stroma and causes swelling.", "canonical_name": "Corneal stromal edema"} {"concept_id": "C0474585", "aliases": ["Black faeces"], "types": ["T184"], "canonical_name": "Black feces"} {"concept_id": "C0474819", "aliases": ["Vagal paraganglioma", "Glomus vagale tumor", "Glomus vagale tumour", "Vagal nerve tumours", "Vagal nerve tumors"], "types": ["T191"], "definition": "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.", "canonical_name": "Glomus vagale paraganglioma"} {"concept_id": "C0474844", "aliases": ["Neuronal/glioneuronal neoplasm of the CNS", "Glioneuronal tumor", "Neuronal and mixed neuronal-glial tumor", "Neuronal/glioneuronal neoplasm of the central nervous system", "Glioneuronal tumour"], "types": ["T191"], "definition": "A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)", "canonical_name": "Neuronal and mixed neuronal-glial tumour"} {"concept_id": "C0475715", "aliases": ["AOP"], "types": ["T046"], "definition": "The cessation of breathing in premature infants that lasts for more than 15-20 seconds.", "canonical_name": "Apnea of prematurity"} {"concept_id": "C0475732", "aliases": [], "types": ["T033"], "canonical_name": "Infantile hypercalcemia"} {"concept_id": "C0475737", "aliases": ["Germinal matrix haemorrhage", "Grade I preterm intraventricular hemorrhage", "Germinal matrix hemorrhage"], "types": ["T046"], "definition": "Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles occurring around the time of birth.", "canonical_name": "Grade I preterm intraventricular haemorrhage"} {"concept_id": "C0476089", "aliases": [], "types": ["T191"], "definition": "A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation.", "canonical_name": "Endometrial carcinoma"} {"concept_id": "C0476171", "aliases": [], "types": ["T037"], "definition": "A fracture in which the bone is splintered or crushed into a number of pieces.", "canonical_name": "Comminuted fracture"} {"concept_id": "C0476217", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal head movements"} {"concept_id": "C0476254", "aliases": ["Dyslexia"], "types": ["T048"], "definition": "A cognitive disorder characterized by an impaired ability to comprehend written and printed words or phrases despite intact vision. This condition may be developmental or acquired. Developmental dyslexia is marked by reading achievement that falls substantially below that expected given the individual's chronological age, measured intelligence, and age-appropriate education. The disturbance in reading significantly interferes with academic achievement or with activities of daily living that require reading skills. (From DSM-IV)", "canonical_name": "Reading disability"} {"concept_id": "C0476273", "aliases": ["Labored breathing", "Respiratory distress", "Respiratory difficulties"], "types": ["T184"], "definition": "A pathological increase in the effort and frequency of breathing movements.", "canonical_name": "Breathing difficulties"} {"concept_id": "C0476327", "aliases": ["Hyperamylasemia"], "types": ["T033"], "definition": "A laboratory test indicating increased levels of amylase in the serum.", "canonical_name": "Increased circulating amylase level"} {"concept_id": "C0476337", "aliases": [], "types": ["T033"], "definition": "An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. [HPO:probinson]", "canonical_name": "Abnormal blood gas level"} {"concept_id": "C0476369", "aliases": ["Abnormal echocardiography"], "types": ["T033"], "definition": "A history of having had an abnormal echocardiogram.", "canonical_name": "Abnormal echocardiogram"} {"concept_id": "C0476397", "aliases": ["ERG abnormal", "Abnormal ERG", "Abnormal electroretinography"], "types": ["T033"], "definition": "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. [HPO:probinson]", "canonical_name": "Abnormal electroretinogram"} {"concept_id": "C0476403", "aliases": ["Abnormal electromyography finding", "Abnormal EMG", "Electromyogram abnormal", "EMG abnormality"], "types": ["T033"], "definition": "Abnormal results of investigations using electromyography (EMG). [HPO:probinson, PMID:15961866, PMID:18751841]", "canonical_name": "EMG abnormalities"} {"concept_id": "C0476405", "aliases": ["Abnormality on pulmonary function testing"], "types": ["T033"], "definition": "Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. [HPO:probinson, PMID:22347750, PMID:24695507]", "canonical_name": "Abnormal pulmonary function test"} {"concept_id": "C0476408", "aliases": [], "types": ["T033"], "definition": "An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. [HPO:probinson]", "canonical_name": "Reduced vital capacity"} {"concept_id": "C0476474", "aliases": [], "types": ["T046"], "canonical_name": "Persistent fever", "definition": "Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks. [PMID:14677667]"} {"concept_id": "C0476486", "aliases": ["Generalized lymphadenopathy", "Generalised lymphadenopathy", "Swollen lymph nodes affecting all regions of the body", "Generalized swelling of lymph nodes"], "types": ["T033"], "definition": "A generalized form of lymphadenopathy. [HPO:probinson]", "canonical_name": "Generalised swelling of lymph nodes"} {"concept_id": "C0476489", "aliases": [], "types": ["T033"], "canonical_name": "Alpha fetoprotein abnormal"} {"concept_id": "C0478012", "aliases": [], "types": ["T019"], "canonical_name": "Congenital malformation of the great arteries", "definition": "Defect or defects of the morphogenesis of the aorta and pulmonary arteries. []"} {"concept_id": "C0489642", "aliases": ["Intrapulmonary shunting"], "types": ["T033"], "canonical_name": "Intrapulmonary shunt", "definition": "Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs. []"} {"concept_id": "C0494475", "aliases": ["Generalized convulsion", "Generalized-onset motor seizure", "Generalized onset motor seizure", "Generalised convulsion", "Grand mal", "Tonic-clonic convulsion", "Generalised onset motor seizure", "Seizures, tonic-clonic", "Tonic-clonic convulsions", "Generalized tonic-clonic seizure (without specification of onset)", "Bilateral convulsive seizures", "Bilateral tonic-clonic seizure", "Generalised-onset motor seizure", "Grand mal seizures"], "types": ["T047"], "definition": "A generalized tonic-clinic seizure, characterized by loss of consciousness. This type of seizure may be preceded by an aura and is frequently followed by a period of confusion and lethargy (post-ictal state).", "canonical_name": "Generalised tonic-clonic seizure (without specification of onset)"} {"concept_id": "C0494491", "aliases": ["Single damaged nerve"], "types": ["T047"], "definition": "Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ISCHEMIA; traumatic injury; compression; CONNECTIVE TISSUE DISEASES; CUMULATIVE TRAUMA DISORDERS; and other conditions.", "canonical_name": "Mononeuropathy"} {"concept_id": "C0494876", "aliases": [], "types": ["T046"], "canonical_name": "Epidermal thickening", "definition": "Thickening of the epidermal layer of the skin. [HPO:probinson]"} {"concept_id": "C0496897", "aliases": ["Benign eye tumour"], "types": ["T191"], "definition": "A non-metastasizing neoplasm that affects the structures of the eye (conjunctiva, cornea, uvea, retina), the lacrimal gland, and the eyelid.", "canonical_name": "Benign eye tumor"} {"concept_id": "C0497156", "aliases": ["Lymph node hyperplasia"], "types": ["T047"], "definition": "An enlarged lymph node. Causes include viral and bacterial infections and cancers that affect the lymph nodes.", "canonical_name": "Lymphadenopathy"} {"concept_id": "C0497202", "aliases": ["Abnormal movement of the globe of the eye", "Abnormal motility of the globe of the eye", "Abnormal eye movement", "Ocular movement abnormalities", "Abnormal eye motility", "Oculomotor abnormalities", "Abnormal extraocular movements", "Abnormal extraocular movement", "Abnormality of eye movement", "Eye movement abnormalities", "Abnormal ocular movements", "Eye movement issue"], "types": ["T033"], "definition": "Eye movements that are not considered normal.", "canonical_name": "Abnormal eye movements"} {"concept_id": "C0497247", "aliases": ["Increased BP"], "types": ["T033"], "definition": "A finding of increased blood pressure; not necessarily hypertensive disorder", "canonical_name": "Increased blood pressure"} {"concept_id": "C0497327", "aliases": ["Dementia, progressive", "Dementia"], "types": ["T048"], "definition": "An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.", "canonical_name": "Progressive dementia"} {"concept_id": "C0497406", "aliases": [], "types": ["T033"], "definition": "A condition in which body mass index falls between 25 and 29.9.", "canonical_name": "Overweight"} {"concept_id": "C0497538", "aliases": ["Non-cancerous GI tumours", "Benign GI tract tumours", "Benign gastrointestinal tract tumours", "Benign gastrointestinal tract tumors", "Benign GI tract tumors"], "types": ["T191"], "definition": "A non-metastasizing neoplasm arising from any part of the digestive system.", "canonical_name": "Non-cancerous GI tumors"} {"concept_id": "C0497552", "aliases": ["Neurologic abnormalities", "Neurological abnormality"], "types": ["T019"], "definition": "Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.", "canonical_name": "Abnormality of the nervous system"} {"concept_id": "C0518656", "aliases": ["Chronic extreme exhaustion", "Chronic fatigue"], "types": ["T033"], "canonical_name": "Chronic fatigue", "definition": "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C0518988", "aliases": ["Tooth abscess", "Dentoalveolar abscess"], "types": ["T047"], "definition": "An infectious process that affects a tooth. It is characterized by localized periapical or periodontal collection of pus. It presents with pain and swelling of the gums and/or cheek.", "canonical_name": "Dental abscess"} {"concept_id": "C0519063", "aliases": [], "types": ["T191"], "definition": "Lung parenchymal involvement with lymphoma. [DDD:tkuijpers]", "canonical_name": "Pulmonary lymphoma"} {"concept_id": "C0520459", "aliases": [], "types": ["T047"], "definition": "ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT.", "canonical_name": "Necrotizing enterocolitis"} {"concept_id": "C0520463", "aliases": ["Hepatitis, chronic active"], "types": ["T047"], "definition": "An aggressive form of chronic hepatitis involving extensive liver damage and cell injury beyond the portal tract.", "canonical_name": "Chronic active hepatitis"} {"concept_id": "C0520474", "aliases": [], "types": ["T046"], "definition": "Necrosis of bone due to an inadequate blood supply.", "canonical_name": "Aseptic bone necrosis"} {"concept_id": "C0520557", "aliases": ["Liver arteriovenous malformation"], "types": ["T019"], "definition": "A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.", "canonical_name": "Hepatic arteriovenous malformation"} {"concept_id": "C0520561", "aliases": ["Small intestinal haemorrhage", "Small intestinal bleeding"], "types": ["T046"], "definition": "Bleeding from the small intestine. [HPO:probinson]", "canonical_name": "Small intestinal hemorrhage"} {"concept_id": "C0520564", "aliases": [], "types": ["T047"], "definition": "A circumscribed inflammatory and necrotic erosive lesion in the mucosa surface of the ileum.", "canonical_name": "Ileal ulcer"} {"concept_id": "C0520573", "aliases": ["Buffalo hump"], "types": ["T033"], "definition": "An area of fat accumulation at the back of the neck in the form of a hump. [PMID:22301856]", "canonical_name": "Dorsocervical fat pad"} {"concept_id": "C0520578", "aliases": ["Retractile testis"], "types": ["T019"], "definition": "A normal variant in which the testicle may move freely between the scrotum and the groin.", "canonical_name": "Retractile testicle"} {"concept_id": "C0520679", "aliases": ["Obstructive sleep apnoea"], "types": ["T047"], "definition": "A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)", "canonical_name": "Obstructive sleep apnea"} {"concept_id": "C0520680", "aliases": ["Central sleep apnea"], "types": ["T047"], "definition": "A condition associated with multiple episodes of sleep apnea which are distinguished from obstructive sleep apnea (SLEEP APNEA, OBSTRUCTIVE) by the complete cessation of efforts to breathe. This disorder is associated with dysfunction of central nervous system centers that regulate respiration.", "canonical_name": "Central sleep apnoea"} {"concept_id": "C0520720", "aliases": ["Perineural cyst"], "types": ["T047"], "definition": "Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself.", "canonical_name": "Tarlov cyst"} {"concept_id": "C0520736", "aliases": ["Direct Coombs positive", "Coombs-positive hemolytic anaemia"], "types": ["T047"], "definition": "A type of hemolytic anemia in which the Coombs test is positive. [HPO:probinson]", "canonical_name": "Coombs-positive hemolytic anemia"} {"concept_id": "C0520739", "aliases": ["Pyropoikilocytosis"], "types": ["T047"], "definition": "An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.", "canonical_name": "hereditary pyropoikilocytosis"} {"concept_id": "C0520743", "aliases": ["Swollen lymph nodes in center of chest", "Swollen lymph nodes in centre of chest"], "types": ["T047"], "definition": "Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. [HPO:probinson]", "canonical_name": "Mediastinal lymphadenopathy"} {"concept_id": "C0520744", "aliases": [], "types": ["T047"], "definition": "Enlargement of lymph nodes surrounding the trachea. [PMID:4023240]", "canonical_name": "Paratracheal lymphadenopathy"} {"concept_id": "C0520823", "aliases": ["Knee clonus"], "types": ["T033"], "definition": "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes. [HPO:probinson]", "canonical_name": "Patellar clonus"} {"concept_id": "C0520825", "aliases": [], "types": ["T184"], "definition": "Breathlessness in the upright position.", "canonical_name": "Platypnea"} {"concept_id": "C0520831", "aliases": [], "types": ["T033"], "canonical_name": "Decreased vital capacity"} {"concept_id": "C0520850", "aliases": ["Increased pulmonary artery occlusion pressure", "Increased pulmonary arterial wedge pressure"], "types": ["T033"], "definition": "The measurement of the mean left arterial pressure, as measured by a catheter introduced into the distal pulmonary artery, is high.", "canonical_name": "Increased pulmonary capillary wedge pressure"} {"concept_id": "C0520860", "aliases": [], "types": ["T033"], "definition": "An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure. [HPO:probinson, PMID:24085809]", "canonical_name": "Abnormal jugular venous pressure"} {"concept_id": "C0520861", "aliases": [], "types": ["T033"], "definition": "A finding of an increase in the jugular venous pressure, as measured by the height of the mean jugular venous waveform above the right atrium.", "canonical_name": "Elevated jugular venous pressure"} {"concept_id": "C0520869", "aliases": [], "types": ["T033"], "definition": "An elevated cardiac index, defined as cardiac output divided by body surface area. [ORCID:0000-0002-4095-8489, PMID:30969727]", "canonical_name": "Increased cardiac index"} {"concept_id": "C0520870", "aliases": [], "types": ["T033"], "definition": "A reduced cardiac index, defined as cardiac output divided by body surface area. [ORCID:0000-0002-4095-8489, PMID:30969727]", "canonical_name": "Decreased cardiac index"} {"concept_id": "C0520878", "aliases": ["Electrocardiographic short PR interval", "Shortened PR interval on EKG", "Shortened PR interval"], "types": ["T033"], "definition": "An electrocardiographic finding of an abnormally short PR interval. Thresholds for different age, gender, and patient populations exist. (CDISC)", "canonical_name": "Short P-R interval"} {"concept_id": "C0520886", "aliases": [], "types": ["T033"], "definition": "An electrocardiographic finding of ST segment elevation above the baseline.", "canonical_name": "ST segment elevation"} {"concept_id": "C0520887", "aliases": [], "types": ["T033"], "definition": "An electrocardiographic finding of ST segment depression below the baseline, often described as up sloping, down sloping or horizontal.", "canonical_name": "ST segment depression"} {"concept_id": "C0520888", "aliases": ["EKG: T-wave inversion"], "types": ["T033"], "definition": "An electrocardiographic finding of an inversion of the T wave from the expected axis.", "canonical_name": "T-wave inversion"} {"concept_id": "C0520933", "aliases": ["Abnormal spermatogenesis"], "types": ["T033"], "definition": "Incomplete maturation or aberrant formation of the male gametes. [HPO:probinson, MP:0001156]", "canonical_name": "Impaired spermatogenesis"} {"concept_id": "C0520946", "aliases": ["Overly sensitive", "Emotional hypersensitivity", "Highly sensitive"], "types": ["T033"], "definition": "Heightened emotional reactivity to environmental stimuli, including emotions of others. [PMID:23250816]", "canonical_name": "Hypersensitivity"} {"concept_id": "C0520958", "aliases": [], "types": ["T048"], "definition": "An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex caused by stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration).", "canonical_name": "Alien limb phenomenon"} {"concept_id": "C0520966", "aliases": ["Difficulties in coordination", "Incoordination", "Incoordination of limb movements"], "types": ["T033"], "canonical_name": "Limb incoordination"} {"concept_id": "C0520999", "aliases": ["Abnormal intraocular pressure"], "types": ["T033"], "definition": "An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. [HPO:probinson]", "canonical_name": "Abnormal eye pressure"} {"concept_id": "C0521007", "aliases": [], "types": ["T033"], "definition": "The inability to produce speech sounds at normal volume.", "canonical_name": "Hypophonia"} {"concept_id": "C0521114", "aliases": ["Occasional"], "types": ["T079"], "definition": "Not occurring regularly or at short intervals.", "canonical_name": "Occasional (29-5%)"} {"concept_id": "C0521169", "aliases": ["Wedge fracture"], "types": ["T046"], "definition": "Compression-induced traumatic break, and resulting collapse, of a short bone.", "canonical_name": "Compression fracture"} {"concept_id": "C0521173", "aliases": [], "types": ["T047"], "definition": "A general term that refers to non-neoplastic and neoplastic disorders characterized by the presence of granulomas in various anatomic sites.", "canonical_name": "Granulomatosis"} {"concept_id": "C0521176", "aliases": [], "types": ["T026"], "definition": "The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil. [PMID:16551982]", "canonical_name": "Flexner-Wintersteiner rosette"} {"concept_id": "C0521177", "aliases": [], "types": ["T026"], "definition": "A type of rosette in which the central lumen or hub is filled with fiber-like processes. [PMID:16551982]", "canonical_name": "Homer Wright rosette"} {"concept_id": "C0521178", "aliases": [], "types": ["T026"], "definition": "Intracellular aggregates of actin and actin-associated proteins within nerve cells. [HPO:probinson]", "canonical_name": "Hirano bodies"} {"concept_id": "C0521525", "aliases": ["Cervical shortening", "Decreased length of neck", "Decreased cervical length", "Short neck"], "types": ["T033"], "definition": "Diminished length of the neck. [HPO:probinson]", "canonical_name": "Decreased cervical height"} {"concept_id": "C0521532", "aliases": ["Diaphragmatic weakness", "Diaphragmatic paraparesis"], "types": ["T033"], "definition": "A decrease in the strength of the diaphragm. [HPO:probinson, PMID:2509822]", "canonical_name": "Weak diaphragm"} {"concept_id": "C0521533", "aliases": [], "types": ["T047"], "definition": "A rare congenital non-syndromic heart malformation characterized by an abnormal protrusion of the interatrial septum into the right or left atrium, or both, during the cardiorespiratory cycle. The defect may be limited to the fossa ovalis or involve the entire septum. It can present as an isolated finding but is more often associated with interatrial shunts, in particular patent foramen ovale. Clinically it increases the risk of peripheral arterial embolism and stroke.", "canonical_name": "Atrial septal aneurysm"} {"concept_id": "C0521556", "aliases": [], "types": ["T019"], "definition": "A congenital abnormality in the sacral region of the spine in which the meninges protrude through a defect in the spinal column.", "canonical_name": "Sacral meningocele"} {"concept_id": "C0521573", "aliases": ["Eyelid coloboma", "Cleft eyelid", "Notched eyelid"], "types": ["T019"], "definition": "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.", "canonical_name": "Full thickness defect of the eyelid"} {"concept_id": "C0521574", "aliases": [], "types": ["T019"], "definition": "An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid. [GOC:MG, http://www.eyecareforanimals.com/animal-eye-conditions/general/251-distichiasis-trichiasis-ectopic-cilia.html]", "canonical_name": "Ectopic cilia of eyelid"} {"concept_id": "C0521618", "aliases": ["Narrowing of the ureter"], "types": ["T190"], "definition": "Narrowing of the luminal diameter of one or both ureters due to intrinsic factors.", "canonical_name": "Ureteral stenosis"} {"concept_id": "C0521619", "aliases": ["Pelviureteric junction obstruction", "Ureteropelvic junction stenosis"], "types": ["T190"], "definition": "A usually congenital abnormality characterized by the partial obstruction of the junction between the renal pelvis and ureter. It may lead to hydronephrosis.", "canonical_name": "Ureteropelvic junction obstruction"} {"concept_id": "C0521620", "aliases": ["Hydroureter", "Swelling of ureter", "Wide ureter", "Ureteral dilatation", "Dilated ureter"], "types": ["T190"], "definition": "Dilatation of the ureter caused by obstruction of urine flow.", "canonical_name": "Megaureter"} {"concept_id": "C0521631", "aliases": ["Testicular abscess"], "types": ["T047"], "definition": "A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins. [PMID:11598263]", "canonical_name": "Intratesticular abscess"} {"concept_id": "C0521668", "aliases": [], "types": ["T047"], "definition": "Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days. []", "canonical_name": "Thunderclap headache"} {"concept_id": "C0521670", "aliases": [], "types": ["T047"], "canonical_name": "Cranial nerve compression"} {"concept_id": "C0521671", "aliases": ["Weakness of one side of the face", "Unilateral facial weakness"], "types": ["T184"], "canonical_name": "Unilateral facial muscle weakness"} {"concept_id": "C0521683", "aliases": [], "types": ["T046"], "canonical_name": "Chorioretinal degeneration"} {"concept_id": "C0521694", "aliases": [], "types": ["T047"], "definition": "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. [ORCID:0000-0003-0986-4123]", "canonical_name": "Retinal atrophy"} {"concept_id": "C0521719", "aliases": ["Corneal clouding"], "types": ["T047"], "canonical_name": "Scarring or clouding of the cornea of the eye"} {"concept_id": "C0521723", "aliases": [], "types": ["T047"], "definition": "A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner.", "canonical_name": "Map-dot-fingerprint corneal dystrophy"} {"concept_id": "C0521731", "aliases": [], "types": ["T047"], "definition": "An inward turning (inversion) of the margin of the upper eyelid. [ORCID:0000-0003-0986-4123]", "canonical_name": "Upper eyelid entropion"} {"concept_id": "C0521736", "aliases": ["Ectropion of lower eyelids", "Lower eyelid folded out"], "types": ["T047"], "canonical_name": "Lower eyelid turned out"} {"concept_id": "C0521770", "aliases": [], "types": ["T047"], "definition": "The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits. []", "canonical_name": "Asteroid hyalosis"} {"concept_id": "C0521800", "aliases": [], "types": ["T033"], "definition": "A form of cyanosis that occurs when there is a decrease in oxygen saturation in the arterial blood, usually with an SaO2 of below 75%.", "canonical_name": "Central cyanosis"} {"concept_id": "C0521802", "aliases": [], "types": ["T047"], "definition": "An extremely rare iron overload disorder caused by mutation in the structural gene for transferrin (TF gene). It is characterized by hypochromic microcytic anemia and hemosiderosis.", "canonical_name": "Atransferrinemia"} {"concept_id": "C0521978", "aliases": [], "types": ["T033"], "canonical_name": "Susceptibility to infection"} {"concept_id": "C0522035", "aliases": ["Edema of the upper limbs", "Oedema of the upper limbs"], "types": ["T046"], "definition": "An abnormal accumulation of fluid beneath the skin of the arms. [HPO:probinson]", "canonical_name": "Fluid accumulation in upper limbs"} {"concept_id": "C0522055", "aliases": ["Abnormal EKG", "Abnormal ECG", "EKG abnormality"], "types": ["T033"], "definition": "A history of having had an abnormal electrocardiogram (ECG).", "canonical_name": "Abnormal electrocardiogram"} {"concept_id": "C0522073", "aliases": [], "types": ["T033"], "definition": "Low level of blood oxygen when standing up from lying position.", "canonical_name": "Orthodeoxia"} {"concept_id": "C0522129", "aliases": ["Erythrocyte cylindruria", "Red blood cell casts"], "types": ["T033"], "definition": "Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. [Eurenomics:fschaefer, PMID:8856231]", "canonical_name": "Urinary erythrocyte cast"} {"concept_id": "C0522153", "aliases": ["Abnormal urine color", "Abnormal urinary color", "Abnormal urinary colour"], "types": ["T033"], "definition": "Change in the color of the urine. Causes include medications, vitamins, urinary tract infection, liver disease, hemolysis, and kidney cancer.", "canonical_name": "Abnormal urine colour"} {"concept_id": "C0522198", "aliases": [], "types": ["T048"], "canonical_name": "Explosive speech"} {"concept_id": "C0522214", "aliases": ["Abnormal visual evoked potential", "Abnormal visual-evoked potentials", "Abnormality of visual evoked potentials", "VEP abnormalities", "Abnormal vision evoked potentials"], "types": ["T033"], "definition": "An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. [HPO:probinson, PMID:19826847]", "canonical_name": "Abnormal visual evoked responses"} {"concept_id": "C0522216", "aliases": ["Abnormal auditory evoked potentials"], "types": ["T033"], "definition": "An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. [HPO:probinson]", "canonical_name": "Abnormal brainstem auditory-evoked potentials"} {"concept_id": "C0522224", "aliases": ["Inability to move"], "types": ["T033"], "definition": "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)", "canonical_name": "Paralysis"} {"concept_id": "C0522357", "aliases": [], "types": ["T184"], "definition": "Paroxysmal episodes of vertigo. [HPO:curators]", "canonical_name": "Paroxysmal vertigo"} {"concept_id": "C0522510", "aliases": ["Severity"], "types": ["T080"], "definition": "The degree or magnitude of strength, energy, or feeling.", "canonical_name": "Intensity"} {"concept_id": "C0524524", "aliases": [], "types": ["T047"], "definition": "A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens. [HPO:probinson, PMID:17539799]", "canonical_name": "Membranous cataract"} {"concept_id": "C0524662", "aliases": ["Opioid dependence"], "types": ["T048"], "definition": "Addiction to opioids. [ORCID:0000-0002-4095-8489, PMID:27508068]", "canonical_name": "Opioid addiction"} {"concept_id": "C0524702", "aliases": [], "types": ["T047"], "definition": "Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung. [PMID:29770793]", "canonical_name": "Pulmonary thromboembolism"} {"concept_id": "C0524801", "aliases": ["Retinal neoplasm", "Retina tumor"], "types": ["T191"], "definition": "Tumors or cancer of the RETINA.", "canonical_name": "Retina tumour"} {"concept_id": "C0524851", "aliases": [], "types": ["T047"], "definition": "Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.", "canonical_name": "Neurodegenerative disease"} {"concept_id": "C0541754", "aliases": [], "types": ["T020"], "definition": "An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms. []", "canonical_name": "Sterile abscess"} {"concept_id": "C0541764", "aliases": ["Delayed bone maturation", "Delayed bone age before puberty", "Delayed skeletal development", "Delayed skeletal maturation", "Retarded bone age", "Delayed bone age"], "types": ["T033"], "definition": "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. [HPO:curators]", "canonical_name": "Skeletal maturation retardation"} {"concept_id": "C0541767", "aliases": [], "types": ["T033"], "definition": "An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. [HPO:probinson]", "canonical_name": "Abnormal platelet aggregation"} {"concept_id": "C0541782", "aliases": ["Silent atrium"], "types": ["T046"], "definition": "An electrocardiographic finding in which a failure of impulse formation or conduction in the sinus node produces prolongation of the P-P interval or dropped P waves. The threshold for the prolongation of the P-P interval is not well defined. (CDISC)", "canonical_name": "Atrial standstill"} {"concept_id": "C0541794", "aliases": ["Muscle atrophy", "Amyotrophy involving the extremities", "Muscular atrophy", "Skeletal muscle atrophy", "Muscle wasting", "Amyotrophy"], "types": ["T046"], "definition": "A process, occurring in skeletal muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse. [GOC:mtg_muscle]", "canonical_name": "Muscle hypotrophy"} {"concept_id": "C0541798", "aliases": [], "types": ["T048"], "definition": "A type of insomnia characterized by waking up (too) early in the morning. []", "canonical_name": "Terminal insomnia"} {"concept_id": "C0541912", "aliases": [], "types": ["T191"], "definition": "A carcinoma that arises from the duodenum. The vast majority of cases are adenocarcinomas.", "canonical_name": "Duodenal cancer"} {"concept_id": "C0541985", "aliases": [], "types": ["T033"], "canonical_name": "Increased serum gamma globulin"} {"concept_id": "C0542035", "aliases": ["Erythroid hypoplasia"], "types": ["T047"], "definition": "Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. [DDD:akelly]", "canonical_name": "Erythroblastopenia"} {"concept_id": "C0542037", "aliases": ["Decreased circulating Tg levels", "Decreased plasma Tg levels", "Low blood triglyceride levels"], "types": ["T047"], "canonical_name": "Hypotriglyceridemia", "definition": "An decrease in the level of triglycerides in the blood. [HPO:probinson]"} {"concept_id": "C0542223", "aliases": ["Loss of speech"], "types": ["T033"], "canonical_name": "Loss of speech"} {"concept_id": "C0542259", "aliases": ["Vestibular abnormality"], "types": ["T190"], "canonical_name": "Morphological abnormality of the vestibule of the inner ear", "definition": "A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. [DDD:mbitner-glidicz]"} {"concept_id": "C0542299", "aliases": ["Behavioral changes"], "types": ["T055"], "canonical_name": "Behavioural changes"} {"concept_id": "C0542346", "aliases": [], "types": ["T184"], "canonical_name": "Pimple"} {"concept_id": "C0542476", "aliases": ["Memory problems", "Forgetfulness", "Memory impairment"], "types": ["T184"], "canonical_name": "Poor memory"} {"concept_id": "C0542514", "aliases": ["Bluish sclerae", "Blue sclerae", "Whites of eyes are a bluish-gray colour", "Blue sclera", "Blue outer white part of eyeball"], "types": ["T033"], "definition": "An abnormal bluish coloration of the sclera. [HPO:probinson]", "canonical_name": "Whites of eyes are a bluish-gray color"} {"concept_id": "C0542518", "aliases": ["Nephromegaly", "Large kidneys", "Large kidney", "Enlarged kidney"], "types": ["T033"], "definition": "An abnormal increase in the size of the kidney. [HPO:probinson]", "canonical_name": "Renal enlargement"} {"concept_id": "C0542519", "aliases": ["Absent kidney", "Renal aplasia", "Renal agenesis"], "types": ["T019"], "definition": "A congenital abnormality characterized by the absence of one or both kidneys.", "canonical_name": "Missing kidney"} {"concept_id": "C0542571", "aliases": ["Facial swelling", "Facial edema", "Facial puffiness"], "types": ["T046"], "definition": "Swelling due to an excessive accumulation of fluid in facial tissues.", "canonical_name": "Facial oedema"} {"concept_id": "C0543541", "aliases": [], "types": ["T047"], "definition": "An increased concentration of glycine in the urine. [HPO:gcarletti, PMID:18901181, PMID:20240447]", "canonical_name": "Hyperglycinuria"} {"concept_id": "C0543888", "aliases": ["Convulsive encephalopathy"], "types": ["T047"], "definition": "A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. [PMID:21590624, PMID:23213494]", "canonical_name": "Epileptic encephalopathy"} {"concept_id": "C0543968", "aliases": ["Cone dysfunction", "Cone dysfunction syndrome"], "types": ["T047"], "canonical_name": "Congenital stationary cone dysfunction", "definition": "Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. [UManchester:psergouniotis]"} {"concept_id": "C0544645", "aliases": ["Focal sensory seizures", "Focal sensory seizure", "Sensory aura"], "types": ["T047"], "definition": "A focal sensory seizure is a type seizure beginning with a subjective sensation. [DDD:ssisodiya, HPO:jalbers, PMID:28276060, PMID:28276062, PMID:28276064]", "canonical_name": "Partial sensory seizure"} {"concept_id": "C0544755", "aliases": ["Genu vara", "Outward bow-leggedness", "Genua vara", "Outward bowing at knees"], "types": ["T033"], "definition": "An outward slant of the thigh in which the knees are wide apart and the ankles close together. Genu varum can develop due to skeletal and joint dysplasia (e.g., OSTEOARTHRITIS; Blount's disease); and malnutrition (e.g., RICKETS; FLUORIDE POISONING).", "canonical_name": "Genu varum"} {"concept_id": "C0544815", "aliases": [], "types": ["T047"], "canonical_name": "Incomplete septal cirrhosis", "definition": "A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma."} {"concept_id": "C0544857", "aliases": ["Bifid nail", "Notched nail"], "types": ["T019"], "definition": "A digit with two nails, with at least some soft tissue between them. [PMID:19125433]", "canonical_name": "duplicated nail"} {"concept_id": "C0544886", "aliases": [], "types": ["T049"], "definition": "Any mutation with an origin in cells that are not destined to become gametes. As a consequence, such mutations are not transmitted to progeny, though they will be transmitted during any mitosis within the individual. Somatic mutations may contribute to a broad variety of pathologies including cancer.", "canonical_name": "Somatic mutation"} {"concept_id": "C0544966", "aliases": [], "types": ["T033"], "definition": "The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue. [HPO:probinson, PMID:17027858]", "canonical_name": "Autophagic vacuoles"} {"concept_id": "C0545053", "aliases": ["Accelerated skeletal maturation", "Advanced bone age"], "types": ["T033"], "definition": "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. [HPO:curators]", "canonical_name": "Early bone maturation"} {"concept_id": "C0545617", "aliases": ["Supernumerary metacarpal bones"], "types": ["T019"], "definition": "The presence of more than the normal number of metacarpal bones. [HPO:curators]", "canonical_name": "Extra long bones of hand"} {"concept_id": "C0546275", "aliases": [], "types": ["T047"], "canonical_name": "Hypoganglionosis", "definition": "Sparse and small myenteric ganglia []"} {"concept_id": "C0546297", "aliases": ["Medially deviated halluces"], "types": ["T190"], "definition": "Displacement of the great toe (HALLUX) towards the midline or away from the other TOES. It can be congenital or acquired.", "canonical_name": "Hallux varus"} {"concept_id": "C0546315", "aliases": ["Cardiac diverticulum"], "types": ["T019"], "definition": "A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular. [HPO:sdoelken]", "canonical_name": "Ventricular diverticulum"} {"concept_id": "C0546389", "aliases": [], "types": ["T047"], "definition": "A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein. [HPO:probinson]", "canonical_name": "Hepatic periportal necrosis"} {"concept_id": "C0546393", "aliases": ["Macular amyloidosis"], "types": ["T047"], "definition": "A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern. [PMID:26981113]", "canonical_name": "Cutaneous macular amyloidosis"} {"concept_id": "C0546483", "aliases": ["Pulmonary cyst"], "types": ["T190"], "definition": "A round, usually thin-walled, abnormal space located in the lung.", "canonical_name": "Lung cyst"} {"concept_id": "C0546817", "aliases": ["Fluid overload in blood"], "types": ["T046"], "definition": "Too much fluid in the blood.", "canonical_name": "Hypervolemia"} {"concept_id": "C0546878", "aliases": [], "types": ["T047"], "definition": "The combination of pendular nystagmus, head nodding, and torticollis. [HPO:probinson, PMID:7499100]", "canonical_name": "Spasmus nutans"} {"concept_id": "C0546884", "aliases": ["Hypovolemia"], "types": ["T033"], "definition": "An abnormally low volume of blood circulating through the body. It may result in hypovolemic shock (see SHOCK).", "canonical_name": "Depleted blood volume"} {"concept_id": "C0546956", "aliases": [], "types": ["T033"], "definition": "Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix. [HPO:probinson, PMID:22016269, PMID:26273150]", "canonical_name": "Trachyonychia"} {"concept_id": "C0546964", "aliases": ["Genu recurvatum", "Knee hyperextension", "Back knee"], "types": ["T190"], "definition": "An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.", "canonical_name": "Genu recurvata"} {"concept_id": "C0546965", "aliases": [], "types": ["T019"], "definition": "Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles. [DDD:dbrown]", "canonical_name": "Parachute mitral valve"} {"concept_id": "C0546966", "aliases": [], "types": ["T019"], "definition": "Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix.", "canonical_name": "Monilethrix"} {"concept_id": "C0546967", "aliases": [], "types": ["T019"], "definition": "A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. [HPO:probinson]", "canonical_name": "Posterior embryotoxon"} {"concept_id": "C0546968", "aliases": ["Branchial fistula"], "types": ["T019"], "definition": "A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. [HPO:sdoelken]", "canonical_name": "Branchial cleft fistula"} {"concept_id": "C0546969", "aliases": [], "types": ["T019"], "definition": "A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention.", "canonical_name": "Preauricular fistulas"} {"concept_id": "C0548883", "aliases": ["Intolerance to frustration"], "types": ["T048"], "canonical_name": "Low frustration tolerance", "definition": "The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors. [PMID:21461367]"} {"concept_id": "C0549122", "aliases": ["Relative afferent pupillary defect", "Marcus Gunn pupil"], "types": ["T047"], "definition": "An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye. [PMID:23520419, PMID:32491607]", "canonical_name": "Relative afferent pupil defect"} {"concept_id": "C0549173", "aliases": ["Atresia of the rectum"], "types": ["T019"], "definition": "A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum. [HPO:probinson, PMID:20006038]", "canonical_name": "Rectal atresia"} {"concept_id": "C0549253", "aliases": [], "types": ["T033"], "canonical_name": "Dilatation of the bladder", "definition": "The presence of a dilated urinary bladder. [HPO:probinson]"} {"concept_id": "C0549295", "aliases": [], "types": ["T033"], "definition": "An abnormally increased number of plasma cells in tissues, exudates, or blood []", "canonical_name": "Plasmacytosis"} {"concept_id": "C0549306", "aliases": ["Disproportionately short middle portion of limb", "Mesomelic shortening of limbs", "Mesomelic limb shortening", "Symmetric mesomelic limb shortness"], "types": ["T019"], "canonical_name": "Mesomelia", "definition": "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. [HPO:sdoelken]"} {"concept_id": "C0549357", "aliases": ["Intra-abdominal adhesion"], "types": ["T020"], "canonical_name": "Abdominal adhesions", "definition": "Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane). [PMID:28203370]"} {"concept_id": "C0549397", "aliases": ["Deviated septum of nose", "Deviated nasal septum", "Crooked septum of nose"], "types": ["T033"], "definition": "An alteration of the septum from the midline.", "canonical_name": "Crooked nasal septum"} {"concept_id": "C0549399", "aliases": ["Hyperbetalipoproteinemia", "Increased circulating low-density lipoprotein cholesterol", "Increased LDL cholesterol concentration", "Increased circulating LDL level", "Increased beta-lipoproteins", "Increased circulating low-density lipoprotein levels", "Increased LDL cholesterol", "Increased LDLc concentration"], "types": ["T033"], "definition": "An elevated concentration of low-density lipoprotein cholesterol in the blood. [HPO:probinson]", "canonical_name": "Increased plasma LDL levels"} {"concept_id": "C0549400", "aliases": [], "types": ["T033"], "canonical_name": "Low APGAR score", "definition": "An Apgar score less than seven."} {"concept_id": "C0549423", "aliases": [], "types": ["T047"], "definition": "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space.", "canonical_name": "Noncommunicating hydrocephalus"} {"concept_id": "C0549448", "aliases": ["Increased hemoglobin", "Increased Hb"], "types": ["T033"], "definition": "A laboratory test result which indicates increased levels of hemoglobin in a biological specimen.", "canonical_name": "Increased haemoglobin"} {"concept_id": "C0549473", "aliases": [], "types": ["T191"], "definition": "A carcinoma arising from the thyroid gland. It includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and undifferentiated (anaplastic) carcinoma.", "canonical_name": "Thyroid carcinoma"} {"concept_id": "C0549613", "aliases": [], "types": ["T033"], "canonical_name": "Biliary tract abnormality", "definition": "An abnormality of the biliary tree. [HPO:probinson]"} {"concept_id": "C0549629", "aliases": [], "types": ["T046"], "definition": "An abnormality of the birth process. [HPO:probinson]", "canonical_name": "Abnormal delivery"} {"concept_id": "C0549651", "aliases": ["Abnormality of the lens", "Lens issue"], "types": ["T033"], "canonical_name": "Abnormality of the lens", "definition": "An abnormality of the lens. [HPO:probinson]"} {"concept_id": "C0553580", "aliases": ["Ewing's sarcoma"], "types": ["T191"], "definition": "A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.", "canonical_name": "Ewing sarcoma"} {"concept_id": "C0553681", "aliases": ["Low fibrinogen level", "Hypofibrinogenemia"], "types": ["T047"], "definition": "Decreased concentration of fibrinogen in the blood. [HPO:probinson]", "canonical_name": "Low fibrinogen activity"} {"concept_id": "C0553706", "aliases": [], "types": ["T033"], "canonical_name": "High blood phosphate levels"} {"concept_id": "C0553720", "aliases": [], "types": ["T033"], "definition": "A hereditary or acquired blood disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly.", "canonical_name": "Spherocytosis"} {"concept_id": "C0553721", "aliases": ["Decreased ability to sweat", "Sweating, decreased", "Decreased sweating"], "types": ["T033"], "canonical_name": "Inadequate sweating"} {"concept_id": "C0553723", "aliases": ["Squamous cell carcinoma of the skin"], "types": ["T191"], "definition": "A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated.", "canonical_name": "Squamous skin carcinoma"} {"concept_id": "C0553730", "aliases": ["Calcium deposits in joints"], "types": ["T047"], "definition": "Presence of CALCIUM PYROPHOSPHATE in the connective tissues such as the cartilaginous structures of joints. When accompanied by GOUT-like symptoms, it is referred to as pseudogout.", "canonical_name": "Chondrocalcinosis"} {"concept_id": "C0553980", "aliases": ["Endocardial fibrosis"], "types": ["T046"], "definition": "A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE).", "canonical_name": "Endomyocardial fibrosis"} {"concept_id": "C0554101", "aliases": ["Villous degeneration"], "types": ["T033"], "definition": "The enteric villi are atrophic or absent. [HPO:probinson]", "canonical_name": "Villous atrophy"} {"concept_id": "C0554103", "aliases": [], "types": ["T046"], "definition": "Abnormality of the absorption of fat from the gastrointestinal tract. [HPO:probinson]", "canonical_name": "Fat malabsorption"} {"concept_id": "C0554393", "aliases": ["Placental infarction"], "types": ["T046"], "definition": "Interruption of the blood supply to a portion of the placenta, resulting in ischemic necrosis.", "canonical_name": "Placental thromboembolism"} {"concept_id": "C0554478", "aliases": ["Perianal rash"], "types": ["T033", "T047"], "definition": "The presence of a rash (change of color and texture) of the perianal skin. [HPO:probinson]", "canonical_name": "Perianal dermatitis"} {"concept_id": "C0554970", "aliases": ["Pale optic disc", "Optic disk pallor", "Pale optic disk", "Pale optic discs", "Disc pallor"], "types": ["T033"], "definition": "A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. [HPO:probinson]", "canonical_name": "Optic disc pallor"} {"concept_id": "C0554972", "aliases": [], "types": ["T033"], "canonical_name": "Large ears"} {"concept_id": "C0554976", "aliases": [], "types": ["T048"], "definition": "Slowness of mental processing that is associated with cerebral dysfunction.", "canonical_name": "Bradyphrenia"} {"concept_id": "C0554978", "aliases": ["Tachyphrenia"], "types": ["T048"], "definition": "Abnormally rapid thoughts with or without abrupt changes from one topic to another.", "canonical_name": "Racing thoughts"} {"concept_id": "C0555120", "aliases": [], "types": ["T033"], "canonical_name": "Leukocyturia"} {"concept_id": "C0555206", "aliases": ["Chiari type II malformation"], "types": ["T019"], "definition": "A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele. [PMID:28613730, PMID:32706613]", "canonical_name": "Arnold-Chiari type II malformation"} {"concept_id": "C0555214", "aliases": ["Cystic lung disease", "Multiple lung cysts"], "types": ["T047"], "definition": "The presence of multiple lung cysts. [PMID:20028879]", "canonical_name": "Multiple pulmonary cysts"} {"concept_id": "C0555231", "aliases": ["Penis aplasia"], "types": ["T019"], "canonical_name": "Aplasia of the penis"} {"concept_id": "C0556280", "aliases": ["Gross motor impairment"], "types": ["T033"], "definition": "An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts. []", "canonical_name": "Poor gross motor coordination"} {"concept_id": "C0557874", "aliases": ["Delayed intellectual development", "Psychomotor delay", "Retarded development", "Developmental retardation", "Delayed development", "Retarded psychomotor development", "Retarded mental development", "Psychomotor development deficiency", "Developmental delay, global", "Developmental delay in early childhood", "Delayed developmental milestones", "Motor and developmental delay", "Psychomotor development failure", "Lack of psychomotor development", "Developmental delay", "Delayed cognitive development", "Delayed psychomotor development", "Global developmental delay", "Psychomotor developmental delay"], "types": ["T048"], "definition": "A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [DDD:hvfirth, HPO:sdoelken]", "canonical_name": "Delayed milestones"} {"concept_id": "C0558143", "aliases": ["Maceration", "Maceration of the skin"], "types": ["T033"], "definition": "Softening and whitening of the skin due to excessive moisture.", "canonical_name": "Skin maceration"} {"concept_id": "C0558165", "aliases": [], "types": ["T033"], "canonical_name": "Curly hair"} {"concept_id": "C0558242", "aliases": [], "types": ["T033"], "canonical_name": "Tight skin"} {"concept_id": "C0558489", "aliases": [], "types": ["T184"], "canonical_name": "Kidney pain"} {"concept_id": "C0558753", "aliases": ["Abdominal reflex absent"], "types": ["T033"], "definition": "Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus. [PMID:12531937, PMID:24785227]", "canonical_name": "Absent abdominal reflex"} {"concept_id": "C0558844", "aliases": ["Absent knee jerk reflex"], "types": ["T033"], "definition": "Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. [HPO:probinson]", "canonical_name": "Absent patellar reflexes"} {"concept_id": "C0558845", "aliases": ["Absent ankle reflexes"], "types": ["T033"], "definition": "Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. [HPO:probinson]", "canonical_name": "Absent Achilles reflex"} {"concept_id": "C0559106", "aliases": ["Preexcitation", "Ventricular pre-excitation", "Ventricular preexcitation"], "types": ["T047"], "definition": "An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway. [HPO:probinson]", "canonical_name": "Pre-excitation syndrome"} {"concept_id": "C0559262", "aliases": ["L5 sacralization"], "types": ["T019"], "definition": "A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both. [UToronto:bgallinger]", "canonical_name": "Sacralization of the fifth lumbar vertebra"} {"concept_id": "C0559459", "aliases": [], "types": ["T191"], "definition": "A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.", "canonical_name": "Sacrococcygeal teratoma"} {"concept_id": "C0559469", "aliases": ["Allergy to eggs"], "types": ["T047"], "definition": "Allergic reaction to eggs that is triggered by the immune system.", "canonical_name": "Egg allergy"} {"concept_id": "C0559506", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal unconjugated hyperbilirubinemia"} {"concept_id": "C0559779", "aliases": [], "types": ["T046"], "canonical_name": "Wedge fractured cervical vertebra"} {"concept_id": "C0559799", "aliases": [], "types": ["T046"], "canonical_name": "Wedge fractured lumbar vertebra"} {"concept_id": "C0560046", "aliases": ["Inability to walk"], "types": ["T033"], "definition": "Incapability to ambulate. [HPO:probinson]", "canonical_name": "Non-ambulatory"} {"concept_id": "C0560085", "aliases": ["Difficulty walking down stairs"], "types": ["T033"], "definition": "Reduced ability to desscend stairs. []", "canonical_name": "Difficulty descending stairs"} {"concept_id": "C0560346", "aliases": [], "types": ["T033"], "definition": "Reduced ability to run. [HPO:probinson]", "canonical_name": "Difficulty running"} {"concept_id": "C0561921", "aliases": [], "types": ["T190"], "definition": "The presence of a fistula between the bowel and the perineum. [HPO:probinson]", "canonical_name": "Perineal fistula"} {"concept_id": "C0563243", "aliases": ["Poor coordination"], "types": ["T033"], "canonical_name": "Poor coordination"} {"concept_id": "C0563350", "aliases": [], "types": ["T033"], "canonical_name": "Difficulty opening mouth"} {"concept_id": "C0563449", "aliases": [], "types": ["T019"], "definition": "Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias. [HPO:probinson, PMID:23650202, PMID:33085327]", "canonical_name": "Epispadias"} {"concept_id": "C0564408", "aliases": ["Manic"], "types": ["T033"], "definition": "An emotional state characterized by marked to extreme elevation of mood with noticeable effect of functioning.", "canonical_name": "Mania"} {"concept_id": "C0564444", "aliases": ["Skin wound"], "types": ["T037"], "definition": "A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time. [PMID:10471461]", "canonical_name": "Cutaneous wound"} {"concept_id": "C0565599", "aliases": [], "types": ["T047"], "definition": "Increased blood pressure during a pregnancy. [HPO:sdoelken]", "canonical_name": "Maternal hypertension"} {"concept_id": "C0566620", "aliases": ["Nasal voice"], "types": ["T033"], "definition": "A type of speech characterized by the presence of an abnormally increased nasal airflow during speech. [HPO:sdoelken]", "canonical_name": "Nasal speech"} {"concept_id": "C0566693", "aliases": ["Placental enlargement"], "types": ["T033"], "definition": "Increased size of the placenta. [HPO:probinson]", "canonical_name": "Large placenta"} {"concept_id": "C0566694", "aliases": [], "types": ["T033"], "definition": "Reduced size of the placenta. [HPO:probinson]", "canonical_name": "Small placenta"} {"concept_id": "C0566888", "aliases": ["Narrow greater sciatic notch", "Narrowed sacrosciatic notch", "Narrow sacroiliac notch", "Narrowed greater sciatic notch", "Small sacrosciatic notch", "Narrow greater sacrosciatic notches", "Small sacrosciatic notches", "Narrow sciatic notches"], "types": ["T033"], "definition": "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. [HPO:pnrobinson]", "canonical_name": "Narrow sacrosciatic notch"} {"concept_id": "C0566899", "aliases": ["Hypoplastic labia majora", "Hypoplasia of labia majora", "Underdeveloped vaginal lips"], "types": ["T033"], "definition": "Undergrowth of the outer labia. [HPO:probinson]", "canonical_name": "Small labia majora"} {"concept_id": "C0566986", "aliases": [], "types": ["T033"], "definition": "Abnormal secretions from the vagina.", "canonical_name": "Abnormal vaginal discharge"} {"concept_id": "C0574027", "aliases": [], "types": ["T190"], "definition": "Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery . []", "canonical_name": "Vertebral artery aneurysm"} {"concept_id": "C0574763", "aliases": [], "types": ["T033"], "canonical_name": "Absent hair"} {"concept_id": "C0574769", "aliases": ["Alopecia of scalp", "Pathologic hair loss from scalp", "Missing scalp hair"], "types": ["T033"], "canonical_name": "Scalp hair loss"} {"concept_id": "C0574941", "aliases": [], "types": ["T033"], "canonical_name": "Joint inflammation"} {"concept_id": "C0574960", "aliases": [], "types": ["T047"], "definition": "Inflammation of the SACROILIAC JOINT. It is characterized by lower back pain, especially upon walking, fever, UVEITIS; PSORIASIS; and decreased range of motion. Many factors are associated with and cause sacroiliitis including infection; injury to spine, lower back, and pelvis; DEGENERATIVE ARTHRITIS; and pregnancy.", "canonical_name": "Sacroiliitis"} {"concept_id": "C0574967", "aliases": ["Cervical spine joint hypermobility"], "types": ["T033"], "canonical_name": "Cervical spine hypermobility"} {"concept_id": "C0574974", "aliases": ["Increased mobility in finger joint"], "types": ["T033"], "canonical_name": "Finger joint hypermobility"} {"concept_id": "C0574977", "aliases": [], "types": ["T033"], "canonical_name": "Hip joint hypermobility"} {"concept_id": "C0574978", "aliases": ["Knee joint over-flexibility"], "types": ["T033"], "definition": "The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). [PMID:28599980, sanford:krageth]", "canonical_name": "Knee joint hypermobility"} {"concept_id": "C0575010", "aliases": ["Rigidity of the temporomandibular joint"], "types": ["T033"], "canonical_name": "Freezing of the temporomandibular joint"} {"concept_id": "C0575059", "aliases": ["Spastic tetraparesis"], "types": ["T047"], "definition": "Spastic weakness affecting all four limbs. [HPO:curators]", "canonical_name": "Spastic quadriparesis"} {"concept_id": "C0575071", "aliases": ["Positive Gower sign"], "types": ["T033"], "canonical_name": "Positive Gowers sign"} {"concept_id": "C0575081", "aliases": ["Abnormal walk", "Gait disturbances", "Gait disturbance", "Gait difficulties", "Gait abnormalities", "Abnormal gait"], "types": ["T033"], "definition": "A finding referring to walking difficulties.", "canonical_name": "Impaired gait"} {"concept_id": "C0575154", "aliases": ["Jaw joint crepitus", "Temporomandibular joint noise", "Temporomandibular joint sounds", "Jaw joint noise", "Jaw joint sounds"], "types": ["T033"], "definition": "Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound. [HPO:probinson]", "canonical_name": "Temporomandibular joint crepitus"} {"concept_id": "C0575157", "aliases": [], "types": ["T190"], "definition": "A congenital or acquired deformity of the spine. Representative examples include scoliosis, kyphosis, and sagittal imbalance.", "canonical_name": "Spinal deformities"} {"concept_id": "C0575158", "aliases": [], "types": ["T190"], "definition": "An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. [HPO:probinson]", "canonical_name": "Kyphoscoliosis"} {"concept_id": "C0575167", "aliases": [], "types": ["T033"], "canonical_name": "Deformity of the neck"} {"concept_id": "C0575170", "aliases": ["Rounded neck"], "types": ["T033"], "definition": "Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. [HPO:probinson]", "canonical_name": "Cervical kyphosis"} {"concept_id": "C0575484", "aliases": ["Long thorax"], "types": ["T033"], "definition": "Increased inferior to superior extent of the thorax. [HPO:probinson]", "canonical_name": "Long rib cage"} {"concept_id": "C0575497", "aliases": [], "types": ["T033"], "definition": "Decreased inferosuperior length of the sternum. [HPO:probinson]", "canonical_name": "Short sternum"} {"concept_id": "C0575518", "aliases": ["Increased size of upper limb"], "types": ["T033"], "definition": "Abnormal increase in size of the upper limbs (due to an increase of the size of cells). [HPO:curators]", "canonical_name": "Hypertrophy of the upper limb"} {"concept_id": "C0575535", "aliases": ["Thin clavicles"], "types": ["T033"], "definition": "Abnormally reduced diameter (cross section) of the clavicles. [HPO:probinson]", "canonical_name": "Thin collarbone"} {"concept_id": "C0575802", "aliases": ["Small hands", "Small hand"], "types": ["T033"], "definition": "Disproportionately small hand. [HPO:probinson]", "canonical_name": "Disproportionately small hands"} {"concept_id": "C0575803", "aliases": ["Radial deviation of hands"], "types": ["T033"], "definition": "An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb). [HPO:probinson]", "canonical_name": "Radial deviation of the hand"} {"concept_id": "C0575827", "aliases": [], "types": ["T033"], "definition": "Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual. [eom:5b823be1388221a1, PMID:19125433]", "canonical_name": "Small finger"} {"concept_id": "C0575897", "aliases": ["Thumb deformity", "Abnormality of the thumbs", "Abnormality of the thumb"], "types": ["T033", "T190"], "definition": "An abnormal structure of the first digit of the hand. []", "canonical_name": "Abnormal thumb morphology"} {"concept_id": "C0575904", "aliases": ["Ulnar deviation of the 1st finger"], "types": ["T033"], "definition": "Bending or curvature of a thumb towards the ulnar side (towards the ring finger). [HPO:probinson, PMID:10955488]", "canonical_name": "Ulnar deviation of thumb"} {"concept_id": "C0576093", "aliases": ["Genu valgum", "Knock knees", "Genua valga", "Genu valgus", "Genu valga"], "types": ["T190"], "definition": "An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING).", "canonical_name": "Knee joint valgus deformity"} {"concept_id": "C0576225", "aliases": ["Long foot", "Disproportionately large feet", "long feet"], "types": ["T033"], "definition": "Increased back to front length of the foot. [UHPO:probinson]", "canonical_name": "large feet"} {"concept_id": "C0576227", "aliases": ["Narrow foot"], "types": ["T033"], "definition": "A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. [PMID:19125433]", "canonical_name": "Slender feet"} {"concept_id": "C0576702", "aliases": ["Barber chair phenomenon", "Lhermitte's sign"], "types": ["T033"], "definition": "A sudden, electric shock sensation that is triggered by flexion of the neck, and which travels down the spine, arms, legs, and sometimes trunk.", "canonical_name": "Lhermitte's phenomenon"} {"concept_id": "C0576714", "aliases": ["Positive Phalen test", "Phalen maneuver"], "types": ["T033"], "definition": "The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger). [PMID:31773104]", "canonical_name": "Phalen manoeuvre"} {"concept_id": "C0576860", "aliases": [], "types": ["T033"], "canonical_name": "Narrow ear canal"} {"concept_id": "C0576900", "aliases": [], "types": ["T033"], "definition": "Aplasia of the malleus. [DDD:dfitzpatrick]", "canonical_name": "Absent malleus"} {"concept_id": "C0576909", "aliases": [], "types": ["T033"], "definition": "Aplasia of the stapes. [DDD:dfitzpatrick]", "canonical_name": "Absent stapes"} {"concept_id": "C0576962", "aliases": ["Dental problem"], "types": ["T033"], "canonical_name": "Dental problems"} {"concept_id": "C0576999", "aliases": ["Absent tonsils", "Hypoplastic tonsils"], "types": ["T033"], "definition": "Lack of observable tonsillar tissue. [HPO:probinson]", "canonical_name": "Tonsillar hypoplasia"} {"concept_id": "C0577037", "aliases": [], "types": ["T033"], "canonical_name": "Absent anus"} {"concept_id": "C0577242", "aliases": ["Congenital absence of foreskin", "Absent foreskin"], "types": ["T033"], "definition": "Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis. [HPO:probinson]", "canonical_name": "Aposthia"} {"concept_id": "C0577620", "aliases": ["Nut allergy", "Nut food product allergy"], "types": ["T047"], "definition": "Allergic reaction to tree nuts that is triggered by the immune system.", "canonical_name": "Allergy to nut food products"} {"concept_id": "C0577628", "aliases": [], "types": ["T046"], "definition": "Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (HYPERSENSITIVITY, DELAYED) and IgE antibody-mediated (HYPERSENSITIVITY, IMMEDIATE) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein.", "canonical_name": "Latex allergy"} {"concept_id": "C0577655", "aliases": ["Quadriceps muscle weakness"], "types": ["T184"], "definition": "Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). [HPO:curators]", "canonical_name": "Quadriceps weakness"} {"concept_id": "C0577725", "aliases": [], "types": ["T033"], "definition": "A type of inferior mediastinal mass that is located in front of the pericardium. []", "canonical_name": "Anterior mediastinal mass"} {"concept_id": "C0577822", "aliases": [], "types": ["T033"], "definition": "Any abnormal noise generated by the beating heart. []", "canonical_name": "Abnormal heart sound"} {"concept_id": "C0577961", "aliases": [], "types": ["T033"], "definition": "Crackles that are heard during the inspiratory phase. [PMID:26229557]", "canonical_name": "Inspiratory crackles"} {"concept_id": "C0577962", "aliases": [], "types": ["T033"], "definition": "Crackles that occur during expiration. [PMID:26229557]", "canonical_name": "Expiratory crackles"} {"concept_id": "C0578038", "aliases": ["Thin vermillion", "Thin lips", "Decreased volume of lip vermillion", "Thin vermilion border", "Decreased volume of lip"], "types": ["T033"], "definition": "Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). [HPO:probinson, PMID:19125428]", "canonical_name": "Thin vermilion borders"} {"concept_id": "C0578055", "aliases": [], "types": ["T184"], "canonical_name": "Pain in head and neck region"} {"concept_id": "C0578475", "aliases": [], "types": ["T184"], "canonical_name": "Cyanotic episode"} {"concept_id": "C0578477", "aliases": ["Duodenal polyposis"], "types": ["T191"], "definition": "Presence of multiple polyps in the duodenum. [HPO:probinson]", "canonical_name": "Multiple duodenal polyps"} {"concept_id": "C0578503", "aliases": [], "types": ["T033"], "definition": "Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal. [PMID:21250125]", "canonical_name": "Abnormal vaginal bleeding"} {"concept_id": "C0578531", "aliases": ["Skin dimple"], "types": ["T033"], "definition": "Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. [HPO:probinson]", "canonical_name": "Skin dimples"} {"concept_id": "C0578575", "aliases": [], "types": ["T047"], "canonical_name": "Type A aortic dissection"} {"concept_id": "C0578590", "aliases": [], "types": ["T033"], "canonical_name": "Lesion of the eyelid"} {"concept_id": "C0578626", "aliases": ["Blue eyes"], "types": ["T033"], "definition": "A markedly blue coloration of the iris. [HPO:probinson]", "canonical_name": "Blue irides"} {"concept_id": "C0578682", "aliases": [], "types": ["T047"], "canonical_name": "Loss of eyebrows"} {"concept_id": "C0578870", "aliases": ["Chronic spontaneous urticaria", "Chronic idiopathic urticaria", "CSU"], "types": ["T047"], "definition": "Urticaria characterized by spontaneously recurring hives for 6 weeks or longer. [PMID:25807072]", "canonical_name": "CIU"} {"concept_id": "C0578878", "aliases": [], "types": ["T047"], "definition": "Inflammation, or an inflammatory state in the large intestine. []", "canonical_name": "Inflammation of the large intestine"} {"concept_id": "C0580173", "aliases": [], "types": ["T033"], "definition": "Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine. [PMID:27770207]", "canonical_name": "Neurogenic claudication"} {"concept_id": "C0580316", "aliases": ["Abnormal neutrophil count"], "types": ["T033"], "definition": "A deviation from the normal range of neutrophil cell counts in the circulation. [HPO:probinson]", "canonical_name": "Abnormal neutrophil cell number"} {"concept_id": "C0580317", "aliases": [], "types": ["T033"], "definition": "Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. [DDD:kfreson]", "canonical_name": "Abnormal platelet count"} {"concept_id": "C0580319", "aliases": ["Abnormal monocyte count"], "types": ["T033"], "definition": "An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. [HPO:probinson]", "canonical_name": "Abnormal monocyte number"} {"concept_id": "C0580412", "aliases": ["Abnormal prothrombin time"], "types": ["T033"], "definition": "Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. [PMID:29939529]", "canonical_name": "Abnormal PT"} {"concept_id": "C0580413", "aliases": ["Decreased prothrombin time"], "types": ["T033"], "definition": "Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. [PMID:21470390]", "canonical_name": "Decreased PT"} {"concept_id": "C0580418", "aliases": [], "types": ["T033"], "canonical_name": "Low ferritin level"} {"concept_id": "C0580419", "aliases": [], "types": ["T033"], "definition": "A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. [PMID:3542299]", "canonical_name": "Decreased total iron binding capacity"} {"concept_id": "C0580438", "aliases": ["Abnormal circulating luteinizing hormone level", "Abnormal luteinizing hormone level", "Abnormal circulating luteinizing hormone concentration"], "types": ["T033"], "definition": "An anomaly of the circulating level of luteinizing hormone (LH). []", "canonical_name": "Increased circulating lutropin"} {"concept_id": "C0580454", "aliases": ["Abnormal circulating testosterone concentration"], "types": ["T033"], "definition": "An anomalous concentration of testosterone in the blood. []", "canonical_name": "Abnormal serum testosterone level"} {"concept_id": "C0580517", "aliases": ["Abnormal blood oxygen level", "Abnormal blood O2 level", "Abnormal blood oxygen levels"], "types": ["T033"], "definition": "An abnormality of the partial pressure of oxygen in the arterial blood. [HPO:probinson]", "canonical_name": "Abnormal O2 blood concentration"} {"concept_id": "C0580531", "aliases": ["Abnormal white blood cell count"], "types": ["T033"], "definition": "Number of leukocytes per volume of blood beyond normal limits. [HPO:probinson]", "canonical_name": "Abnormal leukocyte count"} {"concept_id": "C0580547", "aliases": [], "types": ["T033"], "definition": "Any deviation from the normal number of basophils per volume in the blood circulation. []", "canonical_name": "Abnormal basophil count"} {"concept_id": "C0580548", "aliases": ["Abnormal RBC count"], "types": ["T033"], "definition": "Any deviation from the normal number of red blood cells per volume in the circulation. []", "canonical_name": "Abnormal red blood cell count"} {"concept_id": "C0580549", "aliases": ["Abnormal MCHC", "Abnormal mean corpuscular Hb concentration", "Abnormal mean corpuscular haemoglobin", "Abnormal mean corpuscular haemoglobin concentration", "Abnormal MCH"], "types": ["T033"], "definition": "A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. []", "canonical_name": "Abnormal mean corpuscular hemoglobin concentration"} {"concept_id": "C0580550", "aliases": ["Abnormal number of lymphocytes", "Abnormality of lymphocyte number", "Abnormal lymphocyte count", "Abnormal lymphocyte counts"], "types": ["T033"], "definition": "Any abnormality in the total number of lymphocytes in the blood. []", "canonical_name": "Abnormal numbers of lymphocytes"} {"concept_id": "C0581342", "aliases": ["Redundant skin", "Sagging, redundant skin", "Loose redundant skin"], "types": ["T046"], "definition": "Loose and sagging skin often associated with loss of skin elasticity. [HPO:probinson]", "canonical_name": "Redundant skin folds"} {"concept_id": "C0581354", "aliases": ["Recurrent sinusitis"], "types": ["T047"], "definition": "A recurrent form of sinusitis. [HPO:probinson]", "canonical_name": "Sinusitis, recurrent"} {"concept_id": "C0581366", "aliases": ["Recurrent cystitis"], "types": ["T047"], "definition": "Repeated infections of the urinary bladder. [HPO:probinson, PMID:20639019]", "canonical_name": "Recurrent bladder infections"} {"concept_id": "C0581381", "aliases": ["Recurrent upper respiratory infections", "Recurrent URI", "Upper respiratory tract infections, recurrent", "Recurrent upper respiratory infection", "Frequent upper respiratory infections", "Recurrent upper respiratory and lower respiratory infections", "Recurrent upper respiratory tract infections", "Upper respiratory tract infections", "Recurrent colds"], "types": ["T047"], "definition": "An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). [HPO:probinson]", "canonical_name": "Frequent upper respiratory tract infections"} {"concept_id": "C0581874", "aliases": [], "types": ["T048"], "canonical_name": "Late insomnia"} {"concept_id": "C0584837", "aliases": ["Choanal stenosis", "Coanal stenosis"], "types": ["T033"], "definition": "Abnormal narrowing of the choana (the posterior nasal aperture). [HPO:probinson]", "canonical_name": "Narrowing of the rear opening of the nasal cavity"} {"concept_id": "C0585048", "aliases": ["bone metacarpophalangeal joint"], "types": ["T037"], "definition": "A partial or complete breakage of the metacarpophalangeal joint. []", "canonical_name": "Fractured metacarpophalangeal joint"} {"concept_id": "C0585059", "aliases": [], "types": ["T037"], "definition": "A type of fracture in which the ends of the fractured bone are no longer aligned. []", "canonical_name": "Displaced fracture"} {"concept_id": "C0585544", "aliases": [], "types": ["T033"], "definition": "Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. [HPO:probinson, PMID:21505601]", "canonical_name": "Downbeat nystagmus"} {"concept_id": "C0585545", "aliases": [], "types": ["T033"], "definition": "In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient. [HPO:probinson, PMID:21505601]", "canonical_name": "Upbeat nystagmus"} {"concept_id": "C0585556", "aliases": ["Macrosaccadic oscillations"], "types": ["T047"], "definition": "A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern. [PMID:14681893]", "canonical_name": "Macrosaccadic oscillation"} {"concept_id": "C0585953", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent chest infections"} {"concept_id": "C0585984", "aliases": [], "types": ["T190"], "canonical_name": "Laryngotracheomalacia"} {"concept_id": "C0586392", "aliases": [], "types": ["T184"], "canonical_name": "Parkinsonian tremor"} {"concept_id": "C0586553", "aliases": ["Elevated thyroid stimulating hormone", "Increased thyroid-stimulating hormone", "Elevated circulating thyroid-stimulating hormone concentration", "Increased thyroid-stimulating hormone level", "Elevated thyroid stimulating hormone levels", "TSH excess", "Thyroid-stimulating hormone excess", "Increased thyrotropin level", "High TSH"], "types": ["T033"], "definition": "Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. [DDD:spark]", "canonical_name": "Increased serum thyroid-stimulating hormone"} {"concept_id": "C0586559", "aliases": [], "types": ["T033"], "definition": "A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. []", "canonical_name": "Prostate mass"} {"concept_id": "C0586737", "aliases": [], "types": ["T191"], "definition": "An abnormal growth that projects from the mucous membrane of the urinary bladder. []", "canonical_name": "Bladder polyp"} {"concept_id": "C0587246", "aliases": ["Limb weakness"], "types": ["T033"], "definition": "Reduced strength and weakness of the muscles of the arms and legs. [HPO:sdoelken]", "canonical_name": "Limb muscle weakness"} {"concept_id": "C0587955", "aliases": [], "types": ["T033"], "definition": "A laboratory test result indicating abnormal cells found in the urine sample.", "canonical_name": "Abnormal urine cytology"} {"concept_id": "C0595901", "aliases": [], "types": ["T033"], "canonical_name": "Low blood chloride levels"} {"concept_id": "C0595929", "aliases": [], "types": ["T033"], "canonical_name": "Elevated serum cholesterol"} {"concept_id": "C0595939", "aliases": ["Stillbirth", "Late fetal death"], "types": ["T033"], "definition": "A fetus of at least 20 weeks gestation, or of a birth weight of at least 350 grams if the gestational age is unknown, that is born without signs of life at the time of delivery, and with an Apgar score of zero at both one and five minutes.", "canonical_name": "Stillborn"} {"concept_id": "C0595948", "aliases": ["Atypical petit mal seizures", "Atypical absence", "Atypical absence seizure"], "types": ["T047"], "definition": "An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. [HPO:probinson, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275]", "canonical_name": "Atypical absence seizures"} {"concept_id": "C0595954", "aliases": [], "types": ["T046"], "canonical_name": "Venous air embolism"} {"concept_id": "C0595989", "aliases": ["Laryngeal carcinoma", "Laryngeal cancer"], "types": ["T191"], "definition": "Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation.", "canonical_name": "Cancer of the larynx"} {"concept_id": "C0596028", "aliases": ["Buck teeth", "Upper teeth sticking out forward", "Abnormality of horizontal incisor relationship", "Overjet", "Protrusion of upper teeth in front of lower teeth"], "types": ["T190"], "definition": "A malocclusion of the teeth in which maxillary incisor and canine teeth project over the mandiblar teeth. The overlap is measured parallel to the occlusal plane and therefore is called horizontal overlap.", "canonical_name": "Protrusion of the maxillary incisors"} {"concept_id": "C0596046", "aliases": ["Neoplasm of the adrenal medulla"], "types": ["T191"], "definition": "A benign or malignant (primary or metastatic) neoplasm affecting the adrenal medulla.", "canonical_name": "Medullar adrenal neoplasia"} {"concept_id": "C0596773", "aliases": ["Brain inflammation"], "types": ["T047"], "definition": "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.", "canonical_name": "Infectious encephalitis"} {"concept_id": "C0597167", "aliases": ["Pancreatic islet-cell hyperplasia", "Hyperplastic islets of langerhans", "Hypertrophic pancreatic islets", "Islets of langerhans hypertrophy", "Pancreatic islet-cell hypertrophy"], "types": ["T046"], "definition": "abnormal increase in the number of otherwise normal cells in the pancreatic islet without tumor formation; it differs from hypertrophy, which is an increase in bulk without an increase in the number of cells.", "canonical_name": "Islet of Langerhans hyperplasia"} {"concept_id": "C0598121", "aliases": ["Decreased CSF glucose", "Low glucose levels in cerebral spinal fluid"], "types": ["T033"], "definition": "Abnormally low glucose concentration in the cerebrospinal fluid. [HPO:probinson]", "canonical_name": "Hypoglycorrhachia"} {"concept_id": "C0598275", "aliases": ["Cerebral atrophy, diffuse"], "types": ["T033"], "canonical_name": "Diffuse cerebral atrophy", "definition": "Diffuse unlocalised atrophy affecting the cerebrum. [HPO:sdoelken]"} {"concept_id": "C0599035", "aliases": ["High blood ornithine levels"], "types": ["T047"], "definition": "excess of ornithine in the plasma, such as occurs in the genetic disorders gyrate atrophy of choroid and retina and hyperornithinemia-hyperamonemia-homocitrullinuria syndrome.", "canonical_name": "Hyperornithinemia"} {"concept_id": "C0599879", "aliases": [], "types": ["T033"], "canonical_name": "Natural history of disease"} {"concept_id": "C0600031", "aliases": ["Asplenia"], "types": ["T019"], "definition": "Absence (aplasia) of the spleen. [HPO:curators]", "canonical_name": "Absent spleen"} {"concept_id": "C0600104", "aliases": ["Obsessive-compulsive behavior", "Obsessive compulsive behavior", "Obsessive-compulsive behaviour"], "types": ["T048"], "definition": "The behavior of performing an act persistently and repetitively without it leading to reward or pleasure. The act is usually a small, circumscribed behavior, almost ritualistic, yet not pathologically disturbing. Examples of compulsive behavior include twirling of hair, checking something constantly, not wanting pennies in change, straightening tilted pictures, etc.", "canonical_name": "Obsessive compulsive behaviour"} {"concept_id": "C0600106", "aliases": ["bone elbow"], "types": ["T037"], "definition": "Fractures of the distal HUMERUS and the proximal ULNA and the RADIUS at the ELBOW JOINT, including the head, anatomic and surgical necks, and tuberosities.", "canonical_name": "Fractured elbow"} {"concept_id": "C0600113", "aliases": ["Ovarian sex cord-stromal tumour"], "types": ["T191"], "definition": "A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.", "canonical_name": "Ovarian sex cord-stromal tumor"} {"concept_id": "C0600125", "aliases": ["Electrocardiographic long PR interval", "Prolonged PR interval"], "types": ["T033"], "definition": "An electrocardiographic finding of a PR interval of more than 0.20 seconds in adults.", "canonical_name": "Lengthened PR interval on EKG"} {"concept_id": "C0600142", "aliases": [], "types": ["T184"], "definition": "A sudden, temporary sensation of heat predominantly experienced by some women during MENOPAUSE. (Random House Unabridged Dictionary, 2d ed)", "canonical_name": "Hot flashes"} {"concept_id": "C0600228", "aliases": [], "types": ["T046"], "definition": "Cessation of breathing and/or cardiac function.", "canonical_name": "Cardiorespiratory arrest"} {"concept_id": "C0600260", "aliases": [], "types": ["T047"], "definition": "Any disorder marked by obstruction of conducting airways of the lung. AIRWAY OBSTRUCTION may be acute, chronic, intermittent, or persistent.", "canonical_name": "Obstructive lung disease"} {"concept_id": "C0600427", "aliases": ["Cocaine dependence"], "types": ["T048"], "definition": "A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.", "canonical_name": "Cocaine addiction"} {"concept_id": "C0600433", "aliases": ["Resistance to activated protein C"], "types": ["T047"], "definition": "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.", "canonical_name": "Activated protein C resistance"} {"concept_id": "C0600498", "aliases": [], "types": ["T032"], "definition": "The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)", "canonical_name": "Genetic anticipation"} {"concept_id": "C0600518", "aliases": ["Choroidal neovascularization"], "types": ["T046"], "definition": "A pathological process consisting of the formation of new blood vessels in the CHOROID.", "canonical_name": "Choroidal neovascular membrane"} {"concept_id": "C0600599", "aliases": [], "types": ["T045"], "definition": "A pattern of inheritance of a trait that includes the contributions from more than one gene.", "canonical_name": "Multifactorial inheritance"} {"concept_id": "C0677598", "aliases": ["Stomatocytosis", "Red cell stomatocytosis"], "types": ["T034"], "definition": "The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. [HPO:probinson, PMID:16304353]", "canonical_name": "erythrocyte stomatocytes"} {"concept_id": "C0677600", "aliases": [], "types": ["T184"], "definition": "Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. [HPO:curators]", "canonical_name": "Inspiratory stridor"} {"concept_id": "C0677607", "aliases": ["Hashimoto thyroiditis", "Chronic lymphocytic thyroiditis"], "types": ["T047"], "definition": "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.", "canonical_name": "Hashimoto's thyroiditis"} {"concept_id": "C0677608", "aliases": ["Chorangioma"], "types": ["T191"], "definition": "A hemangioma arising from the fetal blood vessels in the placental villi.", "canonical_name": "Placental hamartoma"} {"concept_id": "C0677628", "aliases": [], "types": ["T033"], "definition": "tiny, white hyaline deposits that are lodged between the retina and the retinal pigment epithelium; they are a physical finding in age related macular degeneration.", "canonical_name": "Macular drusen"} {"concept_id": "C0677865", "aliases": [], "types": ["T191"], "definition": "A glioma that arises from the brain stem.", "canonical_name": "Brainstem glioma"} {"concept_id": "C0678222", "aliases": ["Breast carcinoma"], "types": ["T191"], "definition": "A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.", "canonical_name": "Breast cancer"} {"concept_id": "C0678230", "aliases": ["Epicanthic folds", "Eye folds", "Epicanthus", "Palpebronasal fold", "Epicanthal folds", "Prominent eye folds", "Epicanthal fold"], "types": ["T019"], "definition": "A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. [HPO:probinson]", "canonical_name": "Plica palpebronasalis"} {"concept_id": "C0679136", "aliases": [], "types": ["T033"], "definition": "Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself. []", "canonical_name": "Low self esteem"} {"concept_id": "C0679145", "aliases": [], "types": ["T048"], "canonical_name": "Sex addiction"} {"concept_id": "C0679347", "aliases": ["Genital tumor", "Genital tumour"], "types": ["T191"], "canonical_name": "Genital neoplasm", "definition": "A tumor (abnormal growth of tissue) of the genital system. [HPO:probinson]"} {"concept_id": "C0679362", "aliases": ["Extrapulmonary TB"], "types": ["T047"], "definition": "MYCOBACTERIUM infections of organs other than the lung.", "canonical_name": "Extrapulmonary tuberculosis"} {"concept_id": "C0683322", "aliases": ["Cognitive abnormality", "Intellectual impairment"], "types": ["T048"], "canonical_name": "Abnormality of cognition"} {"concept_id": "C0684219", "aliases": [], "types": ["T184"], "definition": "Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. (Adams et al., Principles of Neurology, 6th ed, p1491)", "canonical_name": "Myokymia"} {"concept_id": "C0684276", "aliases": ["Hypsarrhythmia by EEG"], "types": ["T033"], "definition": "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). [HPO:curators]", "canonical_name": "Hypsarrhythmia"} {"concept_id": "C0684337", "aliases": [], "types": ["T191"], "definition": "A group of highly cellular primitive round cell neoplasms which occur extracranially in soft tissue and bone and are derived from embryonal neural crest cells. These tumors occur primarily in children and adolescents and share a number of characteristics with EWING SARCOMA.", "canonical_name": "Peripheral primitive neuroectodermal neoplasm"} {"concept_id": "C0684343", "aliases": [], "types": ["T033"], "definition": "Presence of an intraocular lens after cataract extraction.", "canonical_name": "Pseudophakia"} {"concept_id": "C0685201", "aliases": ["Splenic hemangioma"], "types": ["T191"], "definition": "A hemangioma arising from the spleen.", "canonical_name": "Spleen hemangioma"} {"concept_id": "C0685213", "aliases": ["Incomplete ossification of palatine bone", "Incomplete mineralization of palatine bone", "Incomplete formation of palatine bone"], "types": ["T033"], "definition": "Failure to complete ossification (maturation and calcification) of the palatine bone. [GOC:MG]", "canonical_name": "Incomplete calcification of palatine bone"} {"concept_id": "C0685228", "aliases": ["Absent fetal nasal bone", "Unossified nasal bone"], "types": ["T019"], "definition": "The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy. [PMID:23324624, PMID:31679594]", "canonical_name": "Absence of fetal nasal bone"} {"concept_id": "C0685381", "aliases": ["Radial hypoplasia", "Hypoplastic radius", "Shortening of radius", "Short radii", "Hypoplastic radii", "Underdeveloped outer large forearm bone", "Short radius"], "types": ["T019"], "definition": "A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity.", "canonical_name": "Hypoplasia of the radius"} {"concept_id": "C0685409", "aliases": ["Camptodactyly"], "types": ["T019"], "definition": "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. [HPO:probinson]", "canonical_name": "Permanent flexion of the finger or toe"} {"concept_id": "C0685661", "aliases": ["Abnormality of the ischium", "Abnormality of the ischial bones"], "types": ["T019"], "definition": "An anomaly of the ischium, which forms the lower and back part of the hip bone. [HPO:probinson]", "canonical_name": "Anomaly of the ischium"} {"concept_id": "C0685678", "aliases": ["Incomplete maturation of the pubic bone"], "types": ["T033"], "definition": "Failure to complete ossification (maturation and calcification) of the pubic bone. []", "canonical_name": "Incomplete ossification of pubis"} {"concept_id": "C0685682", "aliases": ["Single nare", "Single nostril", "Single naris", "Mono nostril"], "types": ["T019"], "definition": "The presence of only a single nostril. [PMID:19152422]", "canonical_name": "One nostril"} {"concept_id": "C0685684", "aliases": [], "types": ["T019"], "canonical_name": "Hypoplasia of the nose"} {"concept_id": "C0685695", "aliases": ["Lung segmentation defects", "Abnormal lung lobation"], "types": ["T019"], "definition": "A developmental defect in the formation of pulmonary lobes. [HPO:probinson]", "canonical_name": "Defective lung lobation"} {"concept_id": "C0685707", "aliases": ["Type 4 ventricular septal defect", "Ventricular septal defect, muscular"], "types": ["T019"], "definition": "A congenital heart defect resulting from deficient growth or failure of fusion of the muscular component of the ventricular septum.", "canonical_name": "Muscular ventricular septal defect"} {"concept_id": "C0685773", "aliases": ["Bilateral crossbite"], "types": ["T019"], "canonical_name": "Bilateral crossbite malocclusion"} {"concept_id": "C0685775", "aliases": [], "types": ["T019"], "canonical_name": "Agnathia"} {"concept_id": "C0685776", "aliases": ["Absence of lower jaw", "Failure of development of lower jaw", "Failure of development of mandible", "Absence of mandible", "Mandibular aplasia", "Absence of lower jaw bone", "Agenesis of the mandible"], "types": ["T019"], "definition": "Absence of the mandible. [HPO:curators]", "canonical_name": "Aplasia of the lower jaw bone"} {"concept_id": "C0685781", "aliases": ["Aplasia of the upper jaw bones", "Failure of development of maxilla", "Agenesis of the maxilla", "Aplasia of the maxilla"], "types": ["T019"], "definition": "A congenital defect characterized by absence of the Maxilla. [HPO:probinson]", "canonical_name": "Failure of development of upper jaw bones"} {"concept_id": "C0685786", "aliases": ["Cleft mandible", "Cleft lower jaw"], "types": ["T033"], "definition": "A congenital abnormality consisting of clefting in the lower face through the midline of the lip and/or mandible, which results from incomplete fusion of the embryonic mandibular prominence.", "canonical_name": "Mandibular cleft"} {"concept_id": "C0685787", "aliases": ["Cleft of the face", "Tessier facial cleft", "Facial cleft"], "types": ["T019"], "definition": "A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.", "canonical_name": "Facial clefts"} {"concept_id": "C0685840", "aliases": ["Hypoplasia of the ovary"], "types": ["T019"], "definition": "Developmental hypoplasia of the ovary. [HPO:probinson]", "canonical_name": "Underdeveloped ovary"} {"concept_id": "C0685873", "aliases": ["Microblepharia"], "types": ["T019"], "definition": "Abnormal shortness of the vertical dimensions of the eyelids. [http://medical-dictionary.thefreedictionary.com/microblepharia]", "canonical_name": "Abnormally small eyelid"} {"concept_id": "C0685891", "aliases": ["Hypoplasia of the thymus", "Thymus hypoplasia"], "types": ["T019"], "definition": "Underdevelopment of the thymus. [HPO:curators]", "canonical_name": "Thymic hypoplasia"} {"concept_id": "C0685894", "aliases": ["Athymia", "Aplasia of the thymus"], "types": ["T019"], "definition": "Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. [HPO:probinson]", "canonical_name": "Absent thymus"} {"concept_id": "C0685898", "aliases": [], "types": ["T047"], "definition": "Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food. [PMID:16461139]", "canonical_name": "Food-induced anaphylaxis"} {"concept_id": "C0685900", "aliases": ["Seafood allergy"], "types": ["T047"], "definition": "Hypersensitivity in form of an adverse immune reaction against seafood. []", "canonical_name": "Allergy to seafood"} {"concept_id": "C0685924", "aliases": ["Adhesion of the temporomandibular joint"], "types": ["T047"], "definition": "Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ. [PMID:12139272, PMID:19534789]", "canonical_name": "Temporomandibular joint adhesion"} {"concept_id": "C0685926", "aliases": ["Arthritis of temporomandibular joint"], "types": ["T047"], "canonical_name": "Temporomandibular arthritis"} {"concept_id": "C0685938", "aliases": ["Malignant GI tract tumours", "Malignant gastrointestinal tract tumours", "Malignant gastrointestinal tract tumors"], "types": ["T191"], "definition": "A primary or metastatic malignant neoplasm involving any part of the digestive system.", "canonical_name": "Malignant GI tract tumors"} {"concept_id": "C0686347", "aliases": [], "types": ["T047"], "definition": "Drug-related movement disorder characterized by uncontrollable movements in certain muscles. It is associated with a long-term exposure to certain neuroleptic medications (e.g., METOCLOPRAMIDE).", "canonical_name": "Tardive dyskinesia"} {"concept_id": "C0686353", "aliases": ["Limb-girdle muscular dystrophy"], "types": ["T047"], "definition": "A group of autosomal recessive and less frequently autosomal dominant muscular dystrophies affecting the muscles of the hips and shoulders.", "canonical_name": "limb girdle muscular dystrophy"} {"concept_id": "C0687120", "aliases": ["Medullary cystic disease", "Nephronophthisis"], "types": ["T047"], "definition": "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.", "canonical_name": "juvenile nephronophthisis"} {"concept_id": "C0687149", "aliases": [], "types": ["T019"], "canonical_name": "Pure gonadal dysgenesis"} {"concept_id": "C0687150", "aliases": ["Parathyroid Cancer"], "types": ["T191"], "definition": "A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion.", "canonical_name": "Parathyroid carcinoma"} {"concept_id": "C0687713", "aliases": ["Gastrointestinal pain"], "types": ["T184"], "definition": "Painful sensation in the gastrointestinal region.", "canonical_name": "Gastro pain"} {"concept_id": "C0687720", "aliases": ["Central diabetes insipidus"], "types": ["T047"], "definition": "A genetic or acquired polyuric disorder caused by a deficiency of VASOPRESSINS secreted by the NEUROHYPOPHYSIS. Clinical signs include the excretion of large volumes of dilute URINE; HYPERNATREMIA; THIRST; and polydipsia. Etiologies include HEAD TRAUMA; surgeries and diseases involving the HYPOTHALAMUS and the PITUITARY GLAND. This disorder may also be caused by mutations of genes such as ARVP encoding vasopressin and its corresponding neurophysin (NEUROPHYSINS).", "canonical_name": "Neurohypophyseal diabetes insipidus"} {"concept_id": "C0687751", "aliases": ["Acanthocytes", "Red cell acanthocytosis"], "types": ["T047"], "definition": "Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. [HPO:probinson]", "canonical_name": "Acanthocytosis"} {"concept_id": "C0694539", "aliases": [], "types": ["T047"], "definition": "A disorder characterized by a long standing and persistent uncoordinated atrial myocardium activation due to multiple reentry circuits with consequent deterioration of atrial mechanical function. Instead of intermittently contracting, the atria quiver continuously in a chaotic pattern, causing a totally irregular, often tachycardia ventricular rate. On the ECG it is characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape, and timing, associated with an irregular, frequently rapid ventricular response when atrioventricular conduction is intact.", "canonical_name": "Chronic atrial fibrillation"} {"concept_id": "C0694550", "aliases": ["Recurrent pneumonia", "Pneumonia, recurrent episodes"], "types": ["T047"], "definition": "An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. [HPO:probinson, PMID:15750465]", "canonical_name": "Pneumonia, recurrent"} {"concept_id": "C0699743", "aliases": ["Muscular dystrophy, congenital"], "types": ["T047"], "definition": "Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms).", "canonical_name": "Congenital muscular dystrophy"} {"concept_id": "C0699885", "aliases": [], "types": ["T191"], "definition": "A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.", "canonical_name": "Bladder carcinoma"} {"concept_id": "C0699893", "aliases": [], "types": ["T191"], "definition": "A carcinoma that arises from the skin. Representative examples are basal cell carcinoma and squamous cell carcinoma.", "canonical_name": "Skin cancer (non-melanoma)"} {"concept_id": "C0700078", "aliases": ["Decreased reflexes", "Decreased tendon reflexes", "Decreased reflex response", "Depressed tendon reflexes", "Diminished deep tendon reflexes", "Hyporeflexia"], "types": ["T033"], "definition": "Reduction of neurologic reflexes such as the knee-jerk reaction. [HPO:probinson]", "canonical_name": "Decreased deep tendon reflexes"} {"concept_id": "C0700153", "aliases": ["Delayed relaxation of muscle fibres after contraction", "Delayed relaxation of muscle fibers after contraction"], "types": ["T033"], "definition": "Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS.", "canonical_name": "Myotonia"} {"concept_id": "C0700198", "aliases": [], "types": ["T046"], "canonical_name": "Pulmonary aspiration"} {"concept_id": "C0700200", "aliases": [], "types": ["T184"], "definition": "An episode of lightheadedness and dizziness which may precede an episode of syncope.", "canonical_name": "Presyncope"} {"concept_id": "C0700225", "aliases": ["High blood creatinine level", "Elevated creatinine", "Elevated serum creatinine", "Elevated circulating creatinine concentration", "Increased serum creatinine"], "types": ["T033"], "definition": "An increased amount of creatinine in the blood. [HPO:gcarletti]", "canonical_name": "Increased creatinine"} {"concept_id": "C0700251", "aliases": [], "types": ["T047"], "definition": "Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)", "canonical_name": "Brachial plexus neuropathy"} {"concept_id": "C0700292", "aliases": ["Hypoxemia"], "types": ["T033"], "definition": "A finding indicating decreased oxygen levels in the blood.", "canonical_name": "Low blood oxygen level"} {"concept_id": "C0700299", "aliases": ["Heinz body anemia"], "types": ["T047"], "definition": "Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. [HPO:probinson]", "canonical_name": "Heinz body anaemia"} {"concept_id": "C0700360", "aliases": ["Allergy to animal dander"], "types": ["T047"], "definition": "Hypersensitivity in form of an adverse immune reaction against animal dander. []", "canonical_name": "Animal dander allergy"} {"concept_id": "C0700367", "aliases": [], "types": ["T191"], "definition": "An aggressive embryonal tumor with multilayered rosettes characterized by the presence of amplification of the C19MC region on chromosome 19 (19q13.42).", "canonical_name": "Ependymoblastoma"} {"concept_id": "C0700376", "aliases": [], "types": ["T047"], "definition": "Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. []", "canonical_name": "Pulmonary amyloidosis"} {"concept_id": "C0700501", "aliases": ["Nystagmus, congenital"], "types": ["T019"], "definition": "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)", "canonical_name": "Congenital nystagmus"} {"concept_id": "C0700590", "aliases": ["Sweating, increased", "Diaphoresis", "Increased sweating", "Profuse sweating"], "types": ["T033"], "definition": "Profuse sweating.", "canonical_name": "Sweating profusely"} {"concept_id": "C0700639", "aliases": ["Pylorus stenosis", "Infantile hypertrophic pyloric stenosis"], "types": ["T019"], "definition": "An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.", "canonical_name": "Pyloric stenosis"} {"concept_id": "C0701810", "aliases": ["Long term memory loss"], "types": ["T033"], "definition": "Limited recall of long past events", "canonical_name": "Long term memory impairment"} {"concept_id": "C0701811", "aliases": ["Short term memory impairment"], "types": ["T048"], "definition": "Limited recall of recent events", "canonical_name": "Short term memory loss"} {"concept_id": "C0702108", "aliases": [], "types": ["T019"], "definition": "A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. [ORCID:0000-0003-0986-4123]", "canonical_name": "Coronary cataract"} {"concept_id": "C0702139", "aliases": ["Anotia"], "types": ["T019"], "definition": "Complete absence of any auricular structures. [HPO:probinson, PMID:19125421]", "canonical_name": "Congenital absence of external ear"} {"concept_id": "C0702166", "aliases": [], "types": ["T047"], "definition": "chronic inflammatory disease of the pilosebaceous apparatus marked by an increase in sebum secretions causing lesions most frequently occurring on the face, chest, and back; the inflamed glands may form small pink papules, which sometimes surround comedones so that they have black centers (blackheads), or form pustules or cysts (whiteheads).", "canonical_name": "Acne"} {"concept_id": "C0702167", "aliases": [], "types": ["T047"], "definition": "The most dramatic and severe form of hair loss characterized by an absence of hair follicles. [PMID:14676077]", "canonical_name": "Atrichia"} {"concept_id": "C0702169", "aliases": [], "types": ["T019"], "definition": "Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. [UToronto:chum]", "canonical_name": "Acrania"} {"concept_id": "C0728829", "aliases": [], "types": ["T019"], "definition": "The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight. [HPO:probinson, PMID:19125433]", "canonical_name": "Pes cavus"} {"concept_id": "C0728895", "aliases": ["Aplasia of the fingers", "Hand has less than 5 fingers", "Absent fingers"], "types": ["T019"], "definition": "Aplasia of one or more fingers. [HPO:curators]", "canonical_name": "Hand oligodactyly"} {"concept_id": "C0729198", "aliases": ["Decreased serum parathyroid hormone level", "Decreased serum parathyroid hormone", "Decreased circulating PTH level", "Decreased serum PTH"], "types": ["T033"], "canonical_name": "Decreased circulating parathyroid hormone level", "definition": "An abnormally decreased concentration of parathyroid hormone. [PMID:1302009, RGD:gthayman]"} {"concept_id": "C0729353", "aliases": ["Decreased fertility"], "types": ["T033"], "canonical_name": "Abnormal fertility"} {"concept_id": "C0730292", "aliases": [], "types": ["T047"], "definition": "Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. [HPO:probinson]", "canonical_name": "Macular dystrophy"} {"concept_id": "C0730303", "aliases": ["Retinal hemangioblastoma"], "types": ["T191"], "definition": "A hemangioblastoma that arises from the retina. It can occur sporadically or as part of von Hippel- Lindau syndrome.", "canonical_name": "Retinal capillary hemangioma"} {"concept_id": "C0730304", "aliases": ["Retinal cavernous hemangioma", "Retinal cavernous angioma"], "types": ["T191"], "definition": "A cavernous hemangioma arising from the retina.", "canonical_name": "Retinal cavernous haemangioma"} {"concept_id": "C0730328", "aliases": [], "types": ["T047"], "definition": "A visual impairment characterized by the accumulation of fluid under the retina through a defect in the retinal pigment epithelium.", "canonical_name": "Central serous chorioretinopathy"} {"concept_id": "C0730330", "aliases": [], "types": ["T047"], "canonical_name": "Chloroquine retinopathy"} {"concept_id": "C0730345", "aliases": [], "types": ["T033"], "canonical_name": "Microalbuminuria"} {"concept_id": "C0730379", "aliases": [], "types": ["T047"], "definition": "A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm. [PMID:34230606]", "canonical_name": "Anhydramnios"} {"concept_id": "C0730501", "aliases": ["Non-accomodative convergence excess esotropia"], "types": ["T047"], "definition": "An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved. [ORCID:0000-0003-0986-4123]", "canonical_name": "Near esotropia"} {"concept_id": "C0730502", "aliases": [], "types": ["T047"], "definition": "An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging. [UManchester:psergouniotis]", "canonical_name": "Distance esotropia"} {"concept_id": "C0730503", "aliases": [], "types": ["T047"], "definition": "Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle. [ORCID:0000-0003-0986-4123]", "canonical_name": "Cyclic esotropia"} {"concept_id": "C0730505", "aliases": [], "types": ["T047"], "definition": "A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent. [ORCID:0000-0003-0986-4123]", "canonical_name": "Distance exotropia"} {"concept_id": "C0730506", "aliases": [], "types": ["T047"], "definition": "An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant). [ORCID:0000-0003-0986-4123]", "canonical_name": "Near exotropia"} {"concept_id": "C0740279", "aliases": ["Atrophic cerebellum"], "types": ["T047"], "definition": "Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. [HPO:probinson, PMID:12169461, PMID:26331051]", "canonical_name": "Cerebellar atrophy"} {"concept_id": "C0740321", "aliases": ["Abnormal cardiac catheterization"], "types": ["T033"], "definition": "Abnormal results from the diagnostic tests resulting from cardiac catheterization. []", "canonical_name": "Abnormal cardiac cath"} {"concept_id": "C0740366", "aliases": ["Compression fractured vertebra"], "types": ["T037"], "canonical_name": "Compression-fractured vertebra", "definition": "A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. []"} {"concept_id": "C0740392", "aliases": [], "types": ["T047"], "definition": "NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.", "canonical_name": "Middle cerebral artery stroke"} {"concept_id": "C0740394", "aliases": ["Hyperuricemia", "Hyperuricaemia"], "types": ["T047"], "definition": "Excessive URIC ACID or urate in blood as defined by its solubility in plasma at 37 degrees C; greater than 0.42mmol per liter (7.0mg/dL) in men or 0.36mmol per liter (6.0mg/dL) in women. This condition is caused by overproduction of uric acid or impaired renal clearance. Hyperuricemia can be acquired, drug-induced or genetically determined (LESCH-NYHAN SYNDROME). It is associated with HYPERTENSION and GOUT.", "canonical_name": "High blood uric acid level"} {"concept_id": "C0740402", "aliases": ["Recurrent inflammation of tonsils"], "types": ["T047"], "canonical_name": "Recurrent tonsillitis", "definition": "Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. [HPO:probinson, PMID:15897415]"} {"concept_id": "C0740469", "aliases": [], "types": ["T033"], "canonical_name": "High albumin"} {"concept_id": "C0740651", "aliases": [], "types": ["T184"], "canonical_name": "Abdominal symptom", "definition": "A subjective manifestation of disease localized to the abdomen. []"} {"concept_id": "C0740749", "aliases": [], "types": ["T047"], "canonical_name": "Chronic metabolic acidosis", "definition": "Longstanding metabolic acidosis. [HPO:probinson, PMID:15882309]"} {"concept_id": "C0740852", "aliases": ["Upper airway obstruction"], "types": ["T033"], "canonical_name": "Upper airway obstruction", "definition": "Increased resistance to the passage of air in the upper airway. [HPO:probinson]"} {"concept_id": "C0740888", "aliases": [], "types": ["T033"], "canonical_name": "Alkaline phosphatase abnormal"} {"concept_id": "C0740895", "aliases": [], "types": ["T047"], "canonical_name": "Hypochloremic metabolic alkalosis"} {"concept_id": "C0740896", "aliases": [], "types": ["T047"], "canonical_name": "Hypokalemic hypochloremic metabolic alkalosis"} {"concept_id": "C0740898", "aliases": [], "types": ["T047"], "canonical_name": "Hypokalemic metabolic alkalosis"} {"concept_id": "C0740927", "aliases": [], "types": ["T034"], "canonical_name": "Elevated maternal serum alpha-fetoprotein", "definition": "An elevation of alpha-feto protein in the maternal serum. [HPO:curators]"} {"concept_id": "C0740948", "aliases": [], "types": ["T033"], "canonical_name": "Decreased amniotic fluid index"} {"concept_id": "C0741305", "aliases": ["Inflammation of cartilage of pinna"], "types": ["T046"], "canonical_name": "Chondritis of pinna", "definition": "Inflammation of the cartilage of the external ear. [HPO:probinson]"} {"concept_id": "C0741494", "aliases": ["Increased bilirubin", "Increased total bilirubin"], "types": ["T033"], "definition": "Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. [HPO:probinson]", "canonical_name": "High bili total"} {"concept_id": "C0741585", "aliases": [], "types": ["T184"], "definition": "Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body. []", "canonical_name": "Body ache"} {"concept_id": "C0741796", "aliases": ["Bronchitis, recurrent"], "types": ["T047"], "canonical_name": "Recurrent bronchitis", "definition": "An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. [HPO:probinson, ISBN:0199747725, PMID:28261574]"} {"concept_id": "C0742028", "aliases": ["Atrophy of cerebellar vermis", "Vermian atrophy", "Atrophy of the cerebellar vermis"], "types": ["T047"], "canonical_name": "Cerebellar vermis atrophy", "definition": "Wasting (atrophy) of the vermis of cerebellum. [HPO:probinson]"} {"concept_id": "C0742038", "aliases": [], "types": ["T184"], "canonical_name": "Cerebellar signs"} {"concept_id": "C0742191", "aliases": [], "types": ["T047"], "canonical_name": "Cervical spinal cord atrophy", "definition": "Atrophy of the cervical segment of the spinal cord. [HPO:probinson]"} {"concept_id": "C0742747", "aliases": [], "types": ["T047"], "canonical_name": "High-output congestive heart failure", "definition": "A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. [HPO:curators]"} {"concept_id": "C0742906", "aliases": [], "types": ["T033"], "canonical_name": "Elevated CRP"} {"concept_id": "C0742965", "aliases": ["Eosinophilic cystitis"], "types": ["T047"], "definition": "Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis. [PMID:15857336, PMID:28829677]", "canonical_name": "Eosinophilic bladder infiltration"} {"concept_id": "C0742969", "aliases": ["Elevated D-dimers", "Elevated fibrin degradation fragment concentration"], "types": ["T033"], "definition": "An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation. [PMID:19008457]", "canonical_name": "Elevated circulating D-dimer concentration"} {"concept_id": "C0743178", "aliases": ["Intractable diarrhoea"], "types": ["T047"], "canonical_name": "Intractable diarrhea"} {"concept_id": "C0743330", "aliases": ["Rest dyspnea", "Breathlessness at rest", "Dyspnea at rest", "Dyspnoea at rest"], "types": ["T033"], "definition": "Breathlessness at rest or without exertion.", "canonical_name": "Shortness of breath at rest"} {"concept_id": "C0743332", "aliases": [], "types": ["T047"], "definition": "A type of dystonia that is localized to a specific part of the body. [HPO:probinson]", "canonical_name": "Focal dystonia"} {"concept_id": "C0743359", "aliases": [], "types": ["T047"], "canonical_name": "Chronic ear infection"} {"concept_id": "C0743360", "aliases": ["Recurrent ear infections", "Frequent ear infections"], "types": ["T033"], "canonical_name": "Recurrent ear infections", "definition": "Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C0743887", "aliases": ["bone head of femur"], "types": ["T037"], "definition": "A partial or complete breakage of the head of femur. []", "canonical_name": "Fractured head of femur"} {"concept_id": "C0743912", "aliases": [], "types": ["T033"], "canonical_name": "Increased ferritin"} {"concept_id": "C0743924", "aliases": ["Short foetal thigh bone length", "Short foetal femur length", "Short fetal thigh bone length"], "types": ["T033"], "canonical_name": "Short fetal femur length", "definition": "A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). [HPO:probinson, PMID:16100637]"} {"concept_id": "C0744282", "aliases": [], "types": ["T047"], "definition": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach. []", "canonical_name": "Gastric arteriovenous malformation"} {"concept_id": "C0744295", "aliases": [], "types": ["T191"], "definition": "An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells.", "canonical_name": "Gastric leiomyosarcoma"} {"concept_id": "C0744321", "aliases": ["GI arteriovenous malformation"], "types": ["T190"], "canonical_name": "Gastrointestinal arteriovenous malformation", "definition": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract. []"} {"concept_id": "C0744333", "aliases": [], "types": ["T191"], "canonical_name": "Gastrointestinal polyps", "definition": "A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps."} {"concept_id": "C0744356", "aliases": ["Genital defects", "Genital abnormality", "Genital abnormalities", "Genital anomalies"], "types": ["T033"], "canonical_name": "Abnormality of the genital system", "definition": "An abnormality of the genital system. [HPO:probinson]"} {"concept_id": "C0744604", "aliases": ["Fractured head"], "types": ["T037"], "definition": "A partial or complete breakage of the head. []", "canonical_name": "bone head"} {"concept_id": "C0744641", "aliases": [], "types": ["T047"], "canonical_name": "Intermittent migraine headaches"} {"concept_id": "C0744727", "aliases": ["Reduced Hct", "Low hematocrit"], "types": ["T033"], "definition": "A reduction below the normal ratio of the volume of red blood cells to the total volume of blood. []", "canonical_name": "Reduced hematocrit"} {"concept_id": "C0744735", "aliases": [], "types": ["T047"], "canonical_name": "Hematoperitoneum"} {"concept_id": "C0744897", "aliases": ["Recurrent hiccough", "Recurrent synchronous diaphragmatic flutter", "Recurrent hiccup"], "types": ["T033"], "canonical_name": "Recurrent singultus", "definition": "A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. [HPO:sdoelken]"} {"concept_id": "C0745091", "aliases": [], "types": ["T047"], "definition": "A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter. [PMID:20538328]", "canonical_name": "Hypereosinophilia"} {"concept_id": "C0745109", "aliases": [], "types": ["T033"], "canonical_name": "Macular hyperpigmentation", "definition": "Increased amount of pigmentation in the macula lutea. [DDD:ncarter]"} {"concept_id": "C0745133", "aliases": [], "types": ["T047"], "definition": "Hypertension with elevated systolic and normal diastolic blood pressure. It is the most common subtype in the elderly and is related to VASCULAR STIFFNESS and ATHEROSCLEROTIC PLAQUE buildup.", "canonical_name": "Isolated systolic hypertension"} {"concept_id": "C0745541", "aliases": ["Fractured knee"], "types": ["T037"], "definition": "A traumatic break in one or more of the bones that compose the knee joint.", "canonical_name": "bone knee"} {"concept_id": "C0745601", "aliases": ["Labial abscess"], "types": ["T047"], "definition": "A circumscribed area of pus or necrotic debris in the labia. [PMID:7598776]", "canonical_name": "Abscess of the labia"} {"concept_id": "C0745730", "aliases": ["Multiple fatty lumps"], "types": ["T191"], "definition": "The presence of multiple lipomas (a type of benign tissue made of fatty tissue). [HPO:sdoelken]", "canonical_name": "Multiple lipomas"} {"concept_id": "C0746102", "aliases": [], "types": ["T047"], "definition": "A persistent non-neoplastic disorder of the lungs. Representative examples include: chronic obstructive pulmonary disease, chronic bronchitis, emphysema, pulmonary fibrosis, pneumoconiosis, asbestosis, atelectasis, radiation induced pneumonitis, and radiation fibrosis.", "canonical_name": "Chronic lung disease"} {"concept_id": "C0746495", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent meningitis", "definition": "An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis. [HPO:probinson]"} {"concept_id": "C0746674", "aliases": ["Muscle weakness, generalized", "Generalised muscle weakness", "Muscle weakness, diffuse", "Generalized weakness", "Generalised weakness", "Muscle weakness, generalised"], "types": ["T184"], "definition": "A reduction in the strength of muscles in multiple anatomic sites.", "canonical_name": "Generalized muscle weakness"} {"concept_id": "C0746882", "aliases": [], "types": ["T047"], "canonical_name": "Chronic neutropenia", "definition": "Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months. [PMID:23953336]"} {"concept_id": "C0746889", "aliases": [], "types": ["T033"], "canonical_name": "Hyperpigmented nevi"} {"concept_id": "C0746926", "aliases": [], "types": ["T047"], "canonical_name": "Multiple, subcutaneous nodules"} {"concept_id": "C0746940", "aliases": [], "types": ["T033"], "canonical_name": "Nonverbal"} {"concept_id": "C0747085", "aliases": ["Recurrent episodes of otitis media", "Susceptibility to otitis media", "Recurrent otitis media", "Frequent otitis media", "Recurrent middle ear infection", "Multiple episodes of otitis media"], "types": ["T047"], "definition": "Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. [HPO:probinson]", "canonical_name": "Otitis media, recurrent"} {"concept_id": "C0747241", "aliases": [], "types": ["T033"], "canonical_name": "Erythematous papule", "definition": "A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. [HPO:probinson]"} {"concept_id": "C0747251", "aliases": [], "types": ["T184"], "canonical_name": "Progressive spastic paraparesis"} {"concept_id": "C0747490", "aliases": [], "types": ["T033"], "canonical_name": "Perinephric fluid collection", "definition": "An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography. [PMID:12014928]"} {"concept_id": "C0747556", "aliases": ["Recurrent sore throat", "Pharyngitis, recurrent"], "types": ["T184"], "canonical_name": "Recurrent pharyngitis", "definition": "An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis. [HPO:probinson]"} {"concept_id": "C0747651", "aliases": ["Recurrent pneumonia due to aspiration,"], "types": ["T047"], "definition": "Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. [HPO:probinson]", "canonical_name": "Recurrent aspiration pneumonia"} {"concept_id": "C0747729", "aliases": [], "types": ["T047"], "canonical_name": "Symmetric polyarthritis", "definition": "Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion. [PMID:31657698]"} {"concept_id": "C0747987", "aliases": ["Abnormality of the prostate"], "types": ["T190"], "canonical_name": "Abnormal prostate morphology", "definition": "An abnormality of the prostate. [HPO:probinson]"} {"concept_id": "C0748140", "aliases": [], "types": ["T047"], "canonical_name": "Multiple pulmonary infections"} {"concept_id": "C0748199", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent pyelonephritis", "definition": "Repeated episodes of pyelonephritis. [HPO:probinson]"} {"concept_id": "C0748283", "aliases": [], "types": ["T047"], "definition": "A heterogeneous and/or septated cyst located in the kidney.", "canonical_name": "Complex renal cyst"} {"concept_id": "C0748318", "aliases": ["Progressive renal insufficiency", "Renal insufficiency, progressive", "Renal failure, progressive"], "types": ["T033"], "canonical_name": "Progressive renal failure"} {"concept_id": "C0748427", "aliases": ["Right atrial enlargement", "Right atrial dilatation"], "types": ["T047"], "definition": "Increase in size of the right atrium. [HPO:probinson]", "canonical_name": "Enlarged heart right atrium"} {"concept_id": "C0748428", "aliases": [], "types": ["T046"], "definition": "A blood clot in the right atrium of the heart.", "canonical_name": "Right atrial thrombus"} {"concept_id": "C0748473", "aliases": [], "types": ["T047"], "definition": "Inflammation of the sacroiliac joint, generally accompanied by lower back pain. [HPO:probinson]", "canonical_name": "Sacroiliac arthritis"} {"concept_id": "C0748691", "aliases": [], "types": ["T033"], "canonical_name": "Shoulder weakness"} {"concept_id": "C0748720", "aliases": [], "types": ["T047"], "canonical_name": "Chronic sinus disease"} {"concept_id": "C0749201", "aliases": [], "types": ["T184"], "canonical_name": "Orthostatic syncope", "definition": "Syncope following a quick change in position from lying down to standing. [HPO:probinson]"} {"concept_id": "C0749379", "aliases": ["Scoliosis, thoracolumbar"], "types": ["T190"], "canonical_name": "Thoracolumbar scoliosis"} {"concept_id": "C0749398", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent thromboembolic disease"} {"concept_id": "C0749420", "aliases": [], "types": ["T019"], "definition": "Absence of the thyroid gland in a newborn.", "canonical_name": "Thyroid agenesis"} {"concept_id": "C0750081", "aliases": [], "types": ["T191"], "canonical_name": "Vaginal neoplasia"} {"concept_id": "C0750088", "aliases": [], "types": ["T033"], "canonical_name": "Partial vaginal septum"} {"concept_id": "C0750145", "aliases": [], "types": ["T047"], "canonical_name": "Occlusive vascular disease"} {"concept_id": "C0750292", "aliases": ["Malabsorption of cyanocobalamin"], "types": ["T033"], "canonical_name": "Malabsorption of Vitamin B12"} {"concept_id": "C0750929", "aliases": ["Chiari type I malformation", "Arnold Chiari type I malformation", "Chiari I malformation"], "types": ["T019"], "definition": "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line) [HPO:curators, PMID:28613730]", "canonical_name": "Arnold-Chiari type I malformation"} {"concept_id": "C0750931", "aliases": ["Chiari type III malformation"], "types": ["T019"], "definition": "A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele. [PMID:28613730]", "canonical_name": "Arnold-Chiari type III malformation"} {"concept_id": "C0750937", "aliases": ["Limb ataxia"], "types": ["T033"], "definition": "A kind of ataxia that affects movements of the extremities. [HPO:probinson]", "canonical_name": "Appendicular ataxia"} {"concept_id": "C0750940", "aliases": ["Holmes' tremor"], "types": ["T047"], "definition": "Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements. [PMID:6568936]", "canonical_name": "Rubral tremor"} {"concept_id": "C0751002", "aliases": [], "types": ["T190"], "definition": "A widening (ballooning) localized in the wall of the posterior communicating artery. []", "canonical_name": "Posterior communicating artery aneurysm"} {"concept_id": "C0751003", "aliases": [], "types": ["T047"], "definition": "A brain aneurysm is an abnormal bulge or \"ballooning\" in the wall of an artery in the brain. They are sometimes called berry aneurysms because they are often the size of a small berry. Most brain aneurysms produce no symptoms until they become large, begin to leak blood, or burst.
If a brain aneurysm presses on nerves in your brain, it can cause signs and symptoms. These can include
Treatment depends on the size and location of the aneurysm, whether it is infected, and whether it has burst. If a brain aneurysm bursts, symptoms can include a sudden, severe headache, nausea and vomiting, stiff neck, loss of consciousness, and signs of a stroke. Any of these symptoms requires immediate medical attention.
NIH: National Heart, Lung, and Blood Institute
", "canonical_name": "Brain aneurysm"} {"concept_id": "C0751057", "aliases": ["Complex fever fit", "Complex febrile seizures", "Complex febrile convulsion"], "types": ["T047"], "definition": "A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. [HPO:jalbers, PMID:19125841, PMID:972656]", "canonical_name": "Complex febrile seizure"} {"concept_id": "C0751093", "aliases": [], "types": ["T184"], "definition": "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. [HPO:probinson]", "canonical_name": "Limb dystonia"} {"concept_id": "C0751295", "aliases": [], "types": ["T184"], "canonical_name": "Memory loss"} {"concept_id": "C0751349", "aliases": ["Eyelid myoclonia", "Eyelid myoclonus"], "types": ["T047"], "definition": "Marked, involuntary jerking of the eyelids. []", "canonical_name": "Blepharoclonus"} {"concept_id": "C0751352", "aliases": [], "types": ["T184"], "definition": "Myoclonus that occurs during the initial phases of sleep. [HPO:probinson]", "canonical_name": "Sleep myoclonus"} {"concept_id": "C0751359", "aliases": ["Transient swelling of muscle induced by percussion"], "types": ["T033"], "definition": "A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). [HPO:curators]", "canonical_name": "Percussion myotonia"} {"concept_id": "C0751394", "aliases": [], "types": ["T191"], "definition": "Your paranasal sinuses are small hollow spaces around the nose. They are lined with cells that make mucus, which keeps your nose from drying out. The nasal cavity is the passageway just behind your nose. Air passes through it on the way to your throat as you breathe.
Cancer of the nasal cavity and paranasal sinuses is rare. You are at greater risk if you are
There may be no symptoms at first, and later symptoms can be like those of infections. Doctors diagnose nasal cancer with imaging tests, lighted tube-like instruments that look inside the nose, and biopsies. Treatment options include surgery, radiation, and chemotherapy.
NIH: National Cancer Institute
", "canonical_name": "Nose cancer"} {"concept_id": "C0751401", "aliases": ["Extraocular muscle palsy", "Weakness of muscles controlling eye movement", "Weakness of extraocular eye movement", "Ophthalmoparesis"], "types": ["T184"], "definition": "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. [HPO:curators]", "canonical_name": "Extraocular muscle paralysis"} {"concept_id": "C0751434", "aliases": [], "types": ["T047"], "definition": "A genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria.", "canonical_name": "Phenylalanine hydroxylase deficiency"} {"concept_id": "C0751435", "aliases": [], "types": ["T047"], "definition": "any of several autosomal recessive defects in the hydroxylation of phenylalanine resulting in accumulation and excretion of dietary phenylalanine; most commonly the defect is in the enzyme phenylalanine 4-monooxygenase; the most severe manifestation of this is classic PHENYLKETONURIA, but two benign forms also occur; rarely the defect is one of tetrahydrobiopterin metabolism.", "canonical_name": "Hyperphenylalaninemia"} {"concept_id": "C0751466", "aliases": ["Fear of loud sounds"], "types": ["T048"], "definition": "A fear of sounds, which can include fear of voices, including one's own voice, in addition to other sounds.", "canonical_name": "Phonophobia"} {"concept_id": "C0751470", "aliases": [], "types": ["T033"], "definition": "A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm. [HPO:probinson, PMID:12122165, PMID:21250236]", "canonical_name": "Palmomental reflex"} {"concept_id": "C0751494", "aliases": [], "types": ["T184"], "definition": "A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. [ORCID:0000-0002-1735-8178, PMID:28276060]", "canonical_name": "Motor seizure"} {"concept_id": "C0751495", "aliases": ["Focal onset seizure", "Focal seizure", "Partial seizures", "Focal seizures", "Focal-onset seizures", "Seizure affecting one half of brain", "Partial seizure"], "types": ["T047"], "definition": "A transitory alteration in movement, sensation or autonomic nerve function due to abnormal electric activity in a localized area of the cerebral cortex, usually without change in awareness or alertness. Symptoms vary with different lesion locations and may include but not limited to the motor (e.g. rhythmic muscle contractions in one area of the body), somatosensory and sensory alterations manifested by abnormal numbness, paresthesias or other hallucinations, including several types of aura; autonomic and psychic symptoms, e.g. with changes in speech, thought, personality, mood, sensation of deja vu or hallucinations.", "canonical_name": "Focal-onset seizure"} {"concept_id": "C0751523", "aliases": ["Nonconvulsive status epilepticus"], "types": ["T047"], "definition": "Status epilepticus without prominent motor symptoms, the duration of which is at least ten minutes.", "canonical_name": "Status epilepticus without prominent motor symptoms"} {"concept_id": "C0751559", "aliases": [], "types": ["T047"], "definition": "Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. [PMID:23885280]", "canonical_name": "Pulsatile tinnitus"} {"concept_id": "C0751564", "aliases": ["Pill rolling"], "types": ["T184"], "definition": "A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other. []", "canonical_name": "Pill-rolling tremor"} {"concept_id": "C0751572", "aliases": [], "types": ["T047"], "definition": "Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm. [PMID:24765483]", "canonical_name": "Vertebrobasilar dolichoectasia"} {"concept_id": "C0751574", "aliases": [], "types": ["T047"], "definition": "Decreased strength of the vocal fold on both sides. [HPO:probinson]", "canonical_name": "Bilateral vocal cord paresis"} {"concept_id": "C0751575", "aliases": ["Unilateral paralysis of the vocal cord"], "types": ["T033"], "definition": "A loss of the ability to move the vocal fold on one side. [HPO:probinson]", "canonical_name": "Unilateral vocal cord paralysis"} {"concept_id": "C0751576", "aliases": [], "types": ["T047"], "definition": "Decreased strength of the vocal folds. [HPO:probinson]", "canonical_name": "Vocal cord paresis"} {"concept_id": "C0751577", "aliases": [], "types": ["T047"], "definition": "Decreased strength of the vocal fold on one side. [HPO:probinson]", "canonical_name": "Unilateral vocal cord paresis"} {"concept_id": "C0751617", "aliases": [], "types": ["T019"], "definition": "A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. [gc:hpe]", "canonical_name": "Semilobar holoprosencephaly"} {"concept_id": "C0751674", "aliases": [], "types": ["T191"], "definition": "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.", "canonical_name": "Lymphangioleiomyomatosis"} {"concept_id": "C0751688", "aliases": [], "types": ["T191"], "canonical_name": "Squamous cell cancer"} {"concept_id": "C0751690", "aliases": ["Malignant peripheral nerve sheath tumor", "Malignant peripheral nerve sheath tumour"], "types": ["T191"], "definition": "A malignant neurilemmoma with nerve sheath differentiation. It is often associated with NEUROFIBROMATOSIS 1 and RHABDOMYOSARCOMA.", "canonical_name": "Malignant schwannoma"} {"concept_id": "C0751748", "aliases": [], "types": ["T047"], "definition": "An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.", "canonical_name": "Nonketotic hyperglycinemia"} {"concept_id": "C0751778", "aliases": [], "types": ["T047"], "definition": "A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.", "canonical_name": "Myoclonic epilepsy, progressive"} {"concept_id": "C0751815", "aliases": [], "types": ["T047"], "definition": "The splitting of the vessel wall in one or both (left and right) internal carotid arteries (CAROTID ARTERY, INTERNAL). Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation.", "canonical_name": "Internal carotid artery dissection"} {"concept_id": "C0751837", "aliases": ["Ataxia of gait", "Ataxic gait", "Inability to coordinate movements when walking"], "types": ["T184"], "definition": "Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES.", "canonical_name": "Gait ataxia"} {"concept_id": "C0751900", "aliases": [], "types": ["T184"], "definition": "A tic affecting muscle movement.", "canonical_name": "Motor tics"} {"concept_id": "C0751901", "aliases": ["Verbal tics", "Phonic tics"], "types": ["T184"], "definition": "A vocal tic.", "canonical_name": "Vocal tics"} {"concept_id": "C0752150", "aliases": ["Hypnic headache"], "types": ["T047"], "definition": "A primary headache disorder which occurs exclusively during sleep and regularly awakes patients at a consistent time of night.", "canonical_name": "Alarm clock headache"} {"concept_id": "C0752196", "aliases": [], "types": ["T047"], "canonical_name": "Ballismus"} {"concept_id": "C0752210", "aliases": [], "types": ["T047"], "definition": "Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. [HPO:probinson]", "canonical_name": "Paroxysmal dyskinesia"} {"concept_id": "C0752295", "aliases": [], "types": ["T048"], "definition": "Disorganized thinking, disorientation, or inappropriate responsiveness to external stimuli that occurs during and after awakening.", "canonical_name": "Confusional arousal"} {"concept_id": "C0752323", "aliases": ["Localized clonic seizure", "Localised clonic seizure", "Segmental clonic seizure", "Partial clonic seizure", "Focal clonic seizures"], "types": ["T047"], "definition": "A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. [ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]", "canonical_name": "Focal clonic seizure"} {"concept_id": "C0752324", "aliases": ["Focal tonic seizure", "Partial tonic seizures", "Partial tonic seizure", "Segmental tonic seizure", "Focal tonic seizures", "Local tonic seizures", "Localized tonic seizure"], "types": ["T047"], "definition": "A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes. [HPO:jalbers, PMID:11580774, PMID:28276060, PMID:28276064]", "canonical_name": "Localised tonic seizure"} {"concept_id": "C0752347", "aliases": [], "types": ["T047"], "definition": "A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER DISEASE may also be present. (From Neurology 1997;48:376-380; Neurology 1996;47:1113-1124)", "canonical_name": "Lewy body disease"} {"concept_id": "C0795690", "aliases": ["Omphalocoele", "Exomphalos"], "types": ["T019"], "definition": "A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac.", "canonical_name": "Omphalocele"} {"concept_id": "C0812356", "aliases": [], "types": ["T033"], "canonical_name": "Impaired transferring ability", "definition": "Applies to an individual who needs help in moving from bed to chair or requires a complete transfer. [PMID:10362969]"} {"concept_id": "C0812387", "aliases": ["Cold skin temperature", "Cool skin", "Coldness", "Cool skin temperature"], "types": ["T033"], "definition": "Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness. [PMID:16770929, PMID:32491414]", "canonical_name": "Coolness to palpation"} {"concept_id": "C0812413", "aliases": [], "types": ["T191"], "definition": "A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive.", "canonical_name": "Pleural mesothelioma"} {"concept_id": "C0813217", "aliases": ["Dull facial expression", "Hypomimia"], "types": ["T033"], "definition": "Diminished facial expressiveness due to a loss of motor control of the muscles in the face. Hypomimia is a common sign of Parkinson's disease.", "canonical_name": "Hypomimic face"} {"concept_id": "C0813230", "aliases": ["Increased triglycerides", "Hypertriglyceridemia", "Increased circulating Tg levels", "Increased serum triglycerides", "Increased plasma Tg levels"], "types": ["T033"], "definition": "An abnormal increase in the level of triglycerides in the blood. [HPO:probinson]", "canonical_name": "Increased plasma triglycerides"} {"concept_id": "C0814045", "aliases": ["Y-linked"], "types": ["T033"], "definition": "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. [HPO:curators]", "canonical_name": "Y-linked inheritance"} {"concept_id": "C0836924", "aliases": ["Thrombocytosis", "Increased number of platelets in blood", "Thrombocythaemia"], "types": ["T047"], "definition": "Increased numbers of platelets in the peripheral blood. (Dorland, 27th ed)", "canonical_name": "Thrombocythemia"} {"concept_id": "C0837143", "aliases": [], "types": ["T047"], "definition": "Dissection or a tear of the ABDOMINAL AORTA. It includes thoracoabdominal aortic dissection at the aortic hiatus.", "canonical_name": "Abdominal aortic dissection"} {"concept_id": "C0840655", "aliases": ["Fractured distal phalanx"], "types": ["T037"], "definition": "A partial or complete breakage of the distal phalanx. []", "canonical_name": "bone distal phalanx"} {"concept_id": "C0846967", "aliases": [], "types": ["T191"], "definition": "A neoplasm composed of squamous or epidermal cells.", "canonical_name": "Acanthoma"} {"concept_id": "C0847614", "aliases": [], "types": ["T047"], "canonical_name": "Nasal allergies"} {"concept_id": "C0848084", "aliases": ["Renal parenchymal necrosis"], "types": ["T046"], "definition": "sum of the morphological changes indicative of kidney cell death and caused by the progressive degradation action of enzymes; may affect all or part of the kidney.", "canonical_name": "Renal necrosis"} {"concept_id": "C0848558", "aliases": ["Hypospadia"], "types": ["T019"], "definition": "A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.", "canonical_name": "Hypospadias"} {"concept_id": "C0848666", "aliases": [], "types": ["T184"], "canonical_name": "Spots in front of eyes"} {"concept_id": "C0850149", "aliases": ["Dry coughing", "Dry cough"], "types": ["T184"], "definition": "A cough that is not accompanied by expectorated secretions.", "canonical_name": "Nonproductive cough"} {"concept_id": "C0850666", "aliases": [], "types": ["T047"], "definition": "A bacterial infection of the stomach, caused by Helicobacter pylori. It is associated with the development of peptic ulcer and mucosa-associated lymphoid tissue lymphoma.", "canonical_name": "Helicobacter pylori infection"} {"concept_id": "C0850703", "aliases": ["Frequent falls"], "types": ["T033"], "canonical_name": "Frequent falls"} {"concept_id": "C0850715", "aliases": ["Haematological abnormality", "Abnormality of blood and blood-forming tissues", "Abnormality of the hematopoietic system", "Abnormality of the haematopoietic system", "Hematological abnormality"], "types": ["T033"], "canonical_name": "Abnormality of blood and blood-forming tissues", "definition": "An abnormality of the hematopoietic system. [HPO:probinson]"} {"concept_id": "C0850826", "aliases": ["Localised skin lesion", "Localized skin lesion"], "types": ["T033"], "canonical_name": "Localized skin lesion", "definition": "A pathologic process that affects the skin and is confined to a specific area."} {"concept_id": "C0852413", "aliases": ["Abnormal muscle tone"], "types": ["T033"], "canonical_name": "Abnormal muscle tone"} {"concept_id": "C0852800", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal cardiac index", "definition": "Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area. [ORCID:0000-0002-4095-8489, PMID:30969727]"} {"concept_id": "C0852866", "aliases": ["Cervical cord compression myelopathy"], "types": ["T033"], "canonical_name": "Cervical cord compression", "definition": "Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. [HPO:probinson]"} {"concept_id": "C0852944", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal functional residual capacity", "definition": "A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation. [PMID:29763183]"} {"concept_id": "C0852962", "aliases": [], "types": ["T046"], "canonical_name": "Delivery complication"} {"concept_id": "C0853034", "aliases": ["Increased creatine phosphokinase", "Elevated circulating creatine phosphokinase", "Elevated blood creatine phosphokinase", "Elevated creatine kinase", "Increased creatine kinase"], "types": ["T033"], "definition": "A laboratory test result which indicates increased levels of creatine phosphokinase in a biological specimen.", "canonical_name": "Increased CPK"} {"concept_id": "C0853049", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal exercise test"} {"concept_id": "C0853068", "aliases": ["Impaired renal creatinine clearance", "Decreased GFR", "Reduced creatinine clearance"], "types": ["T033"], "definition": "A laboratory test result which indicates a decreased glomerular filtration rate.", "canonical_name": "Decreased glomerular filtration rate"} {"concept_id": "C0853085", "aliases": ["Decreased circulating low-density lipoprotein levels", "Decreased LDL", "Decreased LDL cholesterol concentration", "Decreased LDLc concentration"], "types": ["T033"], "definition": "An decreased concentration of low-density lipoprotein cholesterol in the blood. [HPO:gcarletti]", "canonical_name": "Hypobetalipoproteinemia"} {"concept_id": "C0853087", "aliases": [], "types": ["T190"], "definition": "Abnormality of the nail. [HPO:probinson]", "canonical_name": "Abnormality of the nail"} {"concept_id": "C0853150", "aliases": ["Abnormal nerve conduction study"], "types": ["T033"], "canonical_name": "Abnormality of peripheral nervous system electrophysiology", "definition": "An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles. []"} {"concept_id": "C0853225", "aliases": ["increased international normalised ratio", "Increased international normalised ratio", "Increased international normalized ratio", "Increased INR", "Prolonged PT", "Prolonged prothrombin time", "Reduced factor II activity", "Reduced prothrombin activity"], "types": ["T033"], "definition": "A laboratory test result demonstrating an increased ratio of the patient's prothrombin time to a control sample.", "canonical_name": "Low factor II activity"} {"concept_id": "C0853226", "aliases": ["Decreased international normalised ratio", "Decreased INR"], "types": ["T033"], "canonical_name": "Decreased international normalized ratio"} {"concept_id": "C0853228", "aliases": ["Abnormal serum ferritin", "Abnormal plasma ferritin"], "types": ["T033"], "canonical_name": "Abnormal circulating ferritin concentration", "definition": "A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma. [HPO:probinson, PMID:29723227]"} {"concept_id": "C0853240", "aliases": ["Congenital bilateral facial palsy", "Congenital facial diplegia"], "types": ["T019"], "definition": "Facial diplegia (that is, bilateral facial palsy) with congenital onset. [HPO:curators]", "canonical_name": "Congenital bilateral facial weakness"} {"concept_id": "C0853644", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal eosinophil count", "definition": "Any deviation from the normal number of eosinophils per volume in the blood circulation. []"} {"concept_id": "C0853655", "aliases": ["Abnormal MCV", "Abnormal erythrocyte volume"], "types": ["T033"], "canonical_name": "Abnormal mean corpuscular volume", "definition": "A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters. []"} {"concept_id": "C0853668", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating IgE", "definition": "An abnormally decreased level of immunoglobulin E (IgE) in blood. [HPO:probinson]"} {"concept_id": "C0853697", "aliases": ["Peripheral neutropenia", "Neutropoenia", "Low neutrophil count", "Neutropenia"], "types": ["T033"], "definition": "A decrease in the number of neutrophils in the peripheral blood.", "canonical_name": "Low blood neutrophil count"} {"concept_id": "C0853716", "aliases": ["Basophilia"], "types": ["T033"], "definition": "Abnormally high level of basophils in the blood.", "canonical_name": "Increased basophil count"} {"concept_id": "C0853877", "aliases": [], "types": ["T190"], "definition": "An abnormal tract between the urinary system and the anterior surface of the gynecologic structures. These include vesico-vaginal, urethro-vaginal, uretero-vaginal, vesico-uterine, uretero-uterine, vesico-cervical, vesico-utero-vaginal fistulae.", "canonical_name": "Urogenital fistula"} {"concept_id": "C0853890", "aliases": ["Elevated gastrin in the blood", "Increased blood gastrin"], "types": ["T033"], "definition": "An elevated amount of gastrin in the blood. [http://orcid.org/0000-0001-7941-2961]", "canonical_name": "Hypergastrinemia"} {"concept_id": "C0853905", "aliases": ["Inverted CD4:CD8 ratio", "Inverted CD4/CD8 ratio"], "types": ["T033"], "canonical_name": "Decreased CD4:CD8 ratio", "definition": "An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells. [PMID:29095912]"} {"concept_id": "C0853945", "aliases": ["Bullae of oral mucosa", "Oral blistering", "Blisters of mouth", "Oral mucosal blisters", "Oral mucosa blisters"], "types": ["T184"], "definition": "Blisters arising in the mouth. [HPO:probinson]", "canonical_name": "Blebs of oral mucosa"} {"concept_id": "C0854021", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal visual field test", "definition": "Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field. []"} {"concept_id": "C0854050", "aliases": ["Abnormal GFR"], "types": ["T033"], "canonical_name": "Abnormal glomerular filtration rate", "definition": "An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. [HP:probinson, PMID:25710660]"} {"concept_id": "C0854060", "aliases": [], "types": ["T033"], "canonical_name": "Increased total iron binding capacity", "definition": "An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. [PMID:3542299]"} {"concept_id": "C0854104", "aliases": [], "types": ["T033"], "canonical_name": "Decreased eosinophil count", "definition": "Abnormal reduction in the count of eosinophils in the blood per volume. [HPO:probinson]"} {"concept_id": "C0854107", "aliases": ["Bleeding below the skin", "Subcutaneous haemorrhage"], "types": ["T047"], "canonical_name": "Subcutaneous hemorrhage", "definition": "This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). [HPO:probinson]"} {"concept_id": "C0854110", "aliases": ["Insulin resistant diabetes", "Insulin resistant diabetes mellitus", "Insulin-resistant diabetes"], "types": ["T047"], "canonical_name": "Insulin-resistant diabetes mellitus", "definition": "A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. [HPO:probinson, PMID:7706500]"} {"concept_id": "C0854242", "aliases": ["GI angiodysplasia"], "types": ["T047"], "canonical_name": "Gastrointestinal angiodysplasia", "definition": "Dysplasia affecting the vasculature of the gastrointestinal tract. [HPO:probinson]"} {"concept_id": "C0854373", "aliases": [], "types": ["T033"], "canonical_name": "Lip discoloration", "definition": "Lightening or darkening of the lips from their usual coloring. []"} {"concept_id": "C0854438", "aliases": [], "types": ["T033"], "canonical_name": "Pigmentation of eyelids"} {"concept_id": "C0854520", "aliases": [], "types": ["T046"], "canonical_name": "Hyperzincemia"} {"concept_id": "C0854723", "aliases": ["Retinal dystrophy"], "types": ["T047"], "definition": "A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.", "canonical_name": "Breakdown of light-sensitive cells in back of eye"} {"concept_id": "C0854892", "aliases": [], "types": ["T191"], "canonical_name": "Metastatic angiosarcoma", "definition": "An angiosarcoma that has spread to another anatomical site."} {"concept_id": "C0855322", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal pulse pressure", "definition": "An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. [HPO:probinson]"} {"concept_id": "C0855323", "aliases": [], "types": ["T033"], "canonical_name": "High pulse pressure", "definition": "Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). [HPO:probinson]"} {"concept_id": "C0855512", "aliases": [], "types": ["T033"], "definition": "An anomaly of the mobility of ejaculated sperm. [HPO:probinson]", "canonical_name": "Abnormal sperm motility"} {"concept_id": "C0855740", "aliases": [], "types": ["T033"], "definition": "Any anomaly in the function of thrombocytes. [HPO:probinson]", "canonical_name": "Abnormal platelet function"} {"concept_id": "C0855742", "aliases": ["Abnormal shape of platelets"], "types": ["T033"], "canonical_name": "Abnormal platelet morphology", "definition": "An anomaly in platelet form, ultrastructure, or intracellular organelles. [DDD:kfreson]"} {"concept_id": "C0855790", "aliases": [], "types": ["T033"], "canonical_name": "Decreased mean corpuscular volume", "definition": "A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters). []"} {"concept_id": "C0855949", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urine pH", "definition": "A deviation of urine pH from the normal range of 4.5 to 7.8. []"} {"concept_id": "C0855987", "aliases": [], "types": ["T033"], "canonical_name": "Decreased basophil count", "definition": "An abnormally reduced count of basophils per volume in the blood circulation. []"} {"concept_id": "C0855997", "aliases": ["Abnormality of basophils"], "types": ["T033"], "canonical_name": "Abnormal basophil morphology", "definition": "Any structural abnormality or abnormal count of basophils. [HPO:probinson, PMID:24075190]"} {"concept_id": "C0855999", "aliases": ["Abnormality of eosinophils"], "types": ["T033"], "canonical_name": "Abnormal eosinophil morphology", "definition": "An abnormal count or structure of eosinophils. [HPO:probinson, PMID:23154224]"} {"concept_id": "C0856002", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal monocyte morphology", "definition": "Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. []"} {"concept_id": "C0856169", "aliases": [], "types": ["T047"], "canonical_name": "Endothelial dysfunction"} {"concept_id": "C0856208", "aliases": [], "types": ["T033"], "canonical_name": "Increased serum zinc", "definition": "An increased consentration of zinc in the blood. [HPO:probinson]"} {"concept_id": "C0856628", "aliases": [], "types": ["T047"], "canonical_name": "Pulmonary granulomatosis", "definition": "The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung. []"} {"concept_id": "C0856727", "aliases": [], "types": ["T047"], "canonical_name": "Cholesterol gallstones", "definition": "Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color. [HPO:probinson, PMID:12950109, PMID:16844493]"} {"concept_id": "C0856747", "aliases": ["Bulging of wall of large artery located above heart", "Ascending tubular aorta aneurysm", "Ascending aortic aneurysm"], "types": ["T190"], "definition": "An abnormal balloon- or sac-like dilatation in the wall of the ASCENDING AORTA.", "canonical_name": "Aneurysm of the ascending tubular aorta"} {"concept_id": "C0856748", "aliases": [], "types": ["T190"], "definition": "An abnormal balloon- or sac-like dilatation in the wall of the AORTIC ARCH.", "canonical_name": "Aortic arch aneurysm"} {"concept_id": "C0856761", "aliases": [], "types": ["T047"], "definition": "A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.", "canonical_name": "Budd-Chiari syndrome"} {"concept_id": "C0856863", "aliases": ["Wide based gait", "Wide-based gait", "Broad based gait", "Wide based walk"], "types": ["T033"], "canonical_name": "Broad-based gait", "definition": "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. [HPO:curators]"} {"concept_id": "C0856948", "aliases": ["Increased GFR"], "types": ["T033"], "canonical_name": "Increased glomerular filtration rate", "definition": "An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. [HP:probinson]"} {"concept_id": "C0856975", "aliases": ["ASD", "Autistic behaviour", "Pervasive developmental disorder", "Autistic behaviors", "Autistic behavior"], "types": ["T048"], "definition": "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. [HPO:probinson, PMID:28879490]", "canonical_name": "Autistic behaviours"} {"concept_id": "C0857007", "aliases": ["Hyperbilirubinemia, neonatal", "Neonatal hyperbilirubinemia"], "types": ["T047"], "definition": "Increased levels of bilirubin in the blood during the neonatal period. In the majority of cases it is seen in the first week of life and usually there is no underlying disease, however, it may also occur in hemolytic diseases, infections, metabolic disorders, and liver abnormalities.", "canonical_name": "High blood bilirubin levels in neonate"} {"concept_id": "C0857071", "aliases": [], "types": ["T184"], "canonical_name": "Stomach churning"} {"concept_id": "C0857177", "aliases": [], "types": ["T184"], "canonical_name": "Arthritic pain"} {"concept_id": "C0857265", "aliases": ["AV nodal tachycardia", "Atrioventricular nodal tachycardia"], "types": ["T047"], "canonical_name": "AV nodal tachycardia", "definition": "A type of supraventricular tachycardia that originates in the atrioventricular node. [DDD:dbrown, PMID:20733110]"} {"concept_id": "C0857276", "aliases": ["Subluxation of patella", "Partial knee cap dislocation"], "types": ["T046"], "canonical_name": "Patellar subluxation", "definition": "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. [HPO:curators]"} {"concept_id": "C0857379", "aliases": ["Malformed ears", "Malformation of auricle", "Abnormal form of ears", "Deformed ears", "Auricular malformation", "Poorly defined conchae", "Dysplastic ears", "Deformed auricles", "Abnormally shaped ears", "Malformed auricles", "Malformed external ears", "Minor malformation of the auricles"], "types": ["T019"], "canonical_name": "Abnormal pinna morphology", "definition": "An abnormality of the pinna, which is also referred to as the auricle or external ear. [HPO:probinson]"} {"concept_id": "C0857460", "aliases": [], "types": ["T033"], "definition": "A higher than average level of platelets in a sample.", "canonical_name": "Increased platelet count"} {"concept_id": "C0857576", "aliases": ["Abnormal thyroid function"], "types": ["T033"], "canonical_name": "Abnormality of thyroid physiology", "definition": "An abnormal functionality of the thyroid gland. [HPO:probinson]"} {"concept_id": "C0857898", "aliases": ["Abnormal circulating aldosterone", "Abnormal plasma aldosterone"], "types": ["T033"], "canonical_name": "Abnormal circulating aldosterone"} {"concept_id": "C0857899", "aliases": ["Decreased aldosterone production", "Hypoaldosteronism", "Decreased circulating aldosterone level", "Decreased aldosterone", "Decreased serum aldosterone"], "types": ["T033"], "definition": "Abnormally reduced levels of aldosterone. [DDD:spark, HPO:probinson]", "canonical_name": "Low blood aldosterone level"} {"concept_id": "C0857963", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal serum estradiol", "definition": "A deviation from normal concentrations of estradiol in the circulation. []"} {"concept_id": "C0857973", "aliases": ["Elevated circulating PTH level", "Elevated serum parathyroid hormone", "Elevated serum pth", "Increased serum parathyroid hormone", "Elevated serum parathyroid hormone level"], "types": ["T033"], "canonical_name": "Elevated circulating parathyroid hormone level", "definition": "An abnormal increased concentration of parathyroid hormone. [HPO:probinson]"} {"concept_id": "C0858617", "aliases": ["Posterior subcapsular opacities of the lens", "Posterior subcapsular cataracts"], "types": ["T047"], "definition": "A type of cataract that forms in the most posterior cortical layer of the lens, directly under the lens capsule. This type of cataract tends to occur in younger patients than cortical or nuclear sclerotic cataracts.", "canonical_name": "Posterior subcapsular cataract"} {"concept_id": "C0858618", "aliases": ["Color blindness", "Dyschromatopsia"], "types": ["T047"], "definition": "A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. [DDD:ncarter]", "canonical_name": "Colour blindness"} {"concept_id": "C0858634", "aliases": [], "types": ["T033"], "canonical_name": "Paroxysmal sneezing", "definition": "Unprovoked explosive pathological sneezing. [PMID:17388999]"} {"concept_id": "C0858684", "aliases": ["Telangiectasia, facial", "Facial telangiectatic vessels"], "types": ["T033"], "canonical_name": "Facial telangiectasia", "definition": "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. [HPO:probinson]"} {"concept_id": "C0858697", "aliases": [], "types": ["T033"], "canonical_name": "White papule", "definition": "A papule with white color. []"} {"concept_id": "C0858722", "aliases": [], "types": ["T184"], "canonical_name": "Twitching of facial muscles"} {"concept_id": "C0858862", "aliases": [], "types": ["T033"], "canonical_name": "Red urine", "definition": "An abnormal red color of the urine. []"} {"concept_id": "C0858867", "aliases": [], "types": ["T033"], "definition": "Abnormally low level of immature red blood cells in the blood.", "canonical_name": "Reticulocytopenia"} {"concept_id": "C0859238", "aliases": ["Palmar oedema"], "types": ["T046"], "canonical_name": "Palmar edema", "definition": "An abnormal accumulation of fluid beneath the skin on the palm of the hand. []"} {"concept_id": "C0859897", "aliases": [], "types": ["T033"], "definition": "A disorder characterized by an intermittent abnormal VOCAL CORDS movement toward the midline during inspiration or expiration resulting in upper AIRWAY OBSTRUCTION.", "canonical_name": "Vocal cord dysfunction"} {"concept_id": "C0859920", "aliases": [], "types": ["T191"], "definition": "A benign or malignant neoplasm arising from the hair follicle.", "canonical_name": "Hair follicle neoplasm"} {"concept_id": "C0859949", "aliases": ["Meat allergen allergy", "Allergy to meat allergens"], "types": ["T047"], "definition": "An allergic reaction triggered by exposure to foodborne allergens found in meat.", "canonical_name": "Meat allergy"} {"concept_id": "C0859996", "aliases": [], "types": ["T033"], "canonical_name": "Decreased corneal sensitivity"} {"concept_id": "C0860204", "aliases": [], "types": ["T047"], "canonical_name": "Cholestatic liver disease"} {"concept_id": "C0860439", "aliases": ["Mottled skin colouring", "Mottled skin coloring"], "types": ["T033"], "canonical_name": "Mottled pigmentation", "definition": "Patchy and irregular skin pigmentation. [HPO:probinson]"} {"concept_id": "C0860468", "aliases": [], "types": ["T033"], "canonical_name": "Salmon patch"} {"concept_id": "C0860499", "aliases": [], "types": ["T033"], "definition": "Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells. []", "canonical_name": "Conjunctival follicles"} {"concept_id": "C0860515", "aliases": ["Freezing of gait"], "types": ["T033"], "definition": "Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk. [PMID:23625316, PMID:27770207]", "canonical_name": "Freezing gait"} {"concept_id": "C0860609", "aliases": ["Inappropriate crying"], "types": ["T033"], "canonical_name": "Inappropriate crying", "definition": "Uncontrolled episodes of crying, without apparent motivating stimuli. [ICM:PCaroppo]"} {"concept_id": "C0860864", "aliases": [], "types": ["T033"], "canonical_name": "Low albumin"} {"concept_id": "C0860904", "aliases": ["IgE deficiency"], "types": ["T033"], "canonical_name": "Decreased IgE"} {"concept_id": "C0865350", "aliases": ["Methylphenidate dependence"], "types": ["T048"], "canonical_name": "Methylphenidate addiction", "definition": "Addiction to methylphenidate. [ORCID:0000-0002-4095-8489, PMID:28790493]"} {"concept_id": "C0868908", "aliases": [], "types": ["T047"], "canonical_name": "Pancolitis", "definition": "Inflammation of the entire colon. [PMID:16189424]"} {"concept_id": "C0869474", "aliases": [], "types": ["T048"], "definition": "A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.", "canonical_name": "Dyscalculia"} {"concept_id": "C0870082", "aliases": [], "types": ["T047"], "definition": "Hypertrophy of the outermost layer of the epidermis. It may be caused by physical or chemical irritants, irradiation, infection, or neoplastic processes.", "canonical_name": "Hyperkeratosis"} {"concept_id": "C0876973", "aliases": ["Pulmonary infection"], "types": ["T047"], "definition": "An acute or chronic infectious process affecting the lungs.", "canonical_name": "Pulmonary infections"} {"concept_id": "C0876991", "aliases": [], "types": ["T047"], "definition": "The term hemophagocytosis describes the pathologic finding of activated macrophages, engulfing erythrocytes, leukocytes, platelets, and their precursor cells. (from Medscape: Hemophagocytic Syndromes and Infection)", "canonical_name": "Hemophagocytosis"} {"concept_id": "C0877015", "aliases": [], "types": ["T047"], "definition": "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, DYSPAREUNIA; URINARY STRESS INCONTINENCE; and FECAL INCONTINENCE.", "canonical_name": "Pelvic organ prolapse"} {"concept_id": "C0877017", "aliases": ["Secondarily generalised tonic-clonic seizures", "'Generalized' tonic-clonic seizure with focal onset", "'Generalised' tonic-clonic seizure with focal onset", "Focal seizure with secondary generalisation", "'Generalised' tonic-clonic seizure with partial onset", "Generalised tonic-clonic seizures with focal onset", "Partial seizures with secondary generalization", "Secondary generalized tonic clonic seizures", "Partial seizures with secondary generalisation", "Secondary generalised tonic clonic seizures", "Generalized tonic-clonic seizures with focal onset", "Focal to bilateral tonic-clonic seizure", "Secondary generalized tonic-clonic seizures", "Secondary generalised tonic-clonic seizures", "Partial seizure with secondary generalization", "Secondarily generalized tonic-clonic seizure", "'Generalized' tonic-clonic seizure with partial onset", "Partial seizure with secondary generalisation", "Secondarily generalised tonic-clonic seizure", "Focal seizure with secondary generalization"], "types": ["T047"], "canonical_name": "Bilateral tonic-clonic seizure with focal onset", "definition": "A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. [HPO:probinson, PMID:28276060, PMID:28276064]"} {"concept_id": "C0877056", "aliases": [], "types": ["T047"], "canonical_name": "Hypoglycemic seizures"} {"concept_id": "C0877087", "aliases": ["Nail bed haemorrhage"], "types": ["T046"], "canonical_name": "Nail bed hemorrhage", "definition": "Small areas of bleeding (hemorrhage) under the fingernail or toenail. [HPO:probinson]"} {"concept_id": "C0877165", "aliases": ["Hypoplastic phalanges of hands", "Short phalanges", "Hypoplastic phalanges", "Short finger bones", "Hypoplastic/small phalanges of the hand", "Rudimentary phalanges", "Phalangeal hypoplasia", "Shortened phalanges"], "types": ["T033"], "definition": "Short (hypoplastic) phalanx of finger, affecting one or more phalanges. [HPO:sdoelken]", "canonical_name": "Short phalanx of finger"} {"concept_id": "C0877168", "aliases": ["Abnormal Hct"], "types": ["T033"], "canonical_name": "Abnormal hematocrit", "definition": "Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood. []"} {"concept_id": "C0877217", "aliases": [], "types": ["T033"], "definition": "A severe form of gait ataxia such that an affected person cannot walk at all. [HPO:probinson]", "canonical_name": "Abasia"} {"concept_id": "C0877243", "aliases": ["Increased serum serotonin"], "types": ["T033"], "canonical_name": "Increased serum serotonin", "definition": "A increased concentration of serotonin in the blood. [HPO:probinson]"} {"concept_id": "C0877326", "aliases": [], "types": ["T046"], "canonical_name": "Bone infarction", "definition": "Ischemic necrosis of the bone tissue and the marrow."} {"concept_id": "C0877359", "aliases": ["Increased liver function tests"], "types": ["T033"], "canonical_name": "Elevated liver function tests"} {"concept_id": "C0877541", "aliases": [], "types": ["T033"], "canonical_name": "Gingival hyperpigmentation"} {"concept_id": "C0877717", "aliases": [], "types": ["T184"], "definition": "An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa. [PMID:25952601]", "canonical_name": "Burning mouth"} {"concept_id": "C0878544", "aliases": ["Cardiomyopathy"], "types": ["T047"], "definition": "A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).", "canonical_name": "Disease of the heart muscle"} {"concept_id": "C0878575", "aliases": ["Demyelination"], "types": ["T046"], "definition": "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. [HPO:probinson]", "canonical_name": "Peripheral demyelination"} {"concept_id": "C0878588", "aliases": [], "types": ["T047"], "definition": "Organic or functional motility disorder involving the SPHINCTER OF ODDI and associated with biliary COLIC. Pathological changes are most often seen in the COMMON BILE DUCT sphincter, and less commonly the PANCREATIC DUCT sphincter.", "canonical_name": "Sphincter of Oddi dysfunction"} {"concept_id": "C0878621", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of habitus"} {"concept_id": "C0878638", "aliases": ["Abnormality of the tongue", "Tongue abnormality", "Abnormal tongue", "Glossal abnormality"], "types": ["T033"], "definition": "Any abnormality of the tongue. [HPO:probinson]", "canonical_name": "Lingual abnormality"} {"concept_id": "C0878640", "aliases": ["Hypokaluria", "Decreased urinary K", "Low urine potassium levels", "Hypokaliuria"], "types": ["T033"], "definition": "A decreased concentration of potassium(1+) in the urine. [HPO:probinson]", "canonical_name": "Decreased urinary potassium"} {"concept_id": "C0878658", "aliases": [], "types": ["T184"], "canonical_name": "Darier's sign", "definition": "A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP. [PMID:24701633]"} {"concept_id": "C0878659", "aliases": ["Disproportionate short stature"], "types": ["T033"], "definition": "A kind of short stature in which different regions of the body are shortened to differing extents. [HPO:probinson]", "canonical_name": "Short stature, disproportionate"} {"concept_id": "C0878660", "aliases": ["Proportionate short stature", "Short stature, proportionate"], "types": ["T033"], "definition": "A kind of short stature in which different regions of the body are shortened to a comparable extent. [HPO:probinson]", "canonical_name": "Proportionate small stature"} {"concept_id": "C0878672", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary urate", "definition": "Elevated concentration of urate in the urine. [HPO:probinson]"} {"concept_id": "C0878682", "aliases": ["Aceruloplasminaemia"], "types": ["T047"], "definition": "Absence of ceruloplasmin in the blood. []", "canonical_name": "Aceruloplasminemia"} {"concept_id": "C0878773", "aliases": [], "types": ["T047"], "definition": "Symptom of overactive detrusor muscle of the URINARY BLADDER that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. URINARY INCONTINENCE may or may not be present.", "canonical_name": "Overactive bladder"} {"concept_id": "C0878787", "aliases": [], "types": ["T047"], "definition": "Less than normal linear growth in an infant or child.", "canonical_name": "Growth failure"} {"concept_id": "C0887941", "aliases": ["Mitochondrial inheritance"], "types": ["T045"], "definition": "The distribution of mitochondria, including the mitochondrial genome, into daughter cells after mitosis or meiosis, mediated by interactions between mitochondria and the cytoskeleton. [GOC:mcc, PMID:10873824, PMID:11389764]", "canonical_name": "Mitochondrial"} {"concept_id": "C0917796", "aliases": ["Leber optic degeneration", "Leber optic atrophy"], "types": ["T047"], "definition": "A hereditary disorder caused by mitochondrial mutations, resulting in the degeneration of the retinal ganglion cells and optic atrophy. It is characterized by an acute or subacute loss of central vision. It may initially affect one eye only, but eventually the central loss of vision becomes bilateral.", "canonical_name": "Leber optic atrophy features"} {"concept_id": "C0917798", "aliases": ["Cerebrovascular ischemia"], "types": ["T046"], "definition": "Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage.", "canonical_name": "Cerebral ischemia"} {"concept_id": "C0917799", "aliases": ["Excessive sleepiness"], "types": ["T047"], "definition": "A sleep disorder characterized by excessive sleepiness.", "canonical_name": "Hypersomnia"} {"concept_id": "C0917801", "aliases": ["Difficulty staying or falling asleep"], "types": ["T184"], "definition": "A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep.", "canonical_name": "Insomnia"} {"concept_id": "C0917804", "aliases": ["Cerebral arteriovenous malformation"], "types": ["T019"], "definition": "A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the brain.", "canonical_name": "Cerebral AV malformation"} {"concept_id": "C0917808", "aliases": [], "types": ["T046"], "definition": "Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities). []", "canonical_name": "Vegetative state"} {"concept_id": "C0917814", "aliases": ["Expressive aphasia"], "types": ["T048"], "definition": "Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. [HPO:probinson]", "canonical_name": "Loss of expressive speech"} {"concept_id": "C0917816", "aliases": [], "types": ["T048"], "canonical_name": "Mental deficiency"} {"concept_id": "C0917890", "aliases": [], "types": ["T191"], "definition": "A WHO grade 1 slow growing tumor, more frequently affecting young adults. It is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. Pineocytoma generally has a relatively favorable prognosis. (Adapted from WHO)", "canonical_name": "Pineocytoma"} {"concept_id": "C0917967", "aliases": [], "types": ["T033"], "definition": "Conditions in which the pupil does not react normally to dilation and constriction. Signs of pupillary abnormalities originate from the pupil's shape, position, and response to stimulation.", "canonical_name": "Abnormal pupillary function"} {"concept_id": "C0917990", "aliases": ["Acroosteolysis", "Acro-osteolysis", "Breakdown of small bones of fingers"], "types": ["T047"], "definition": "A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME.", "canonical_name": "Osteolytic defects of the phalanges of the hand"} {"concept_id": "C0917996", "aliases": [], "types": ["T047"], "definition": "A balloon type pouch or bulge in the wall of a cerebral blood vessel.", "canonical_name": "Cerebral aneurysm"} {"concept_id": "C0919267", "aliases": ["Neoplasm of the ovaries", "Neoplasm of the ovary", "Ovarian tumour", "Ovarian neoplasia", "Ovarian tumor"], "types": ["T191"], "definition": "Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.", "canonical_name": "Ovarian neoplasm"} {"concept_id": "C0919576", "aliases": ["Fetal PDA narrowing-closure", "Fetal PAD narrowing-closure", "Fetal arterial duct narrowing-closure", "PCDA", "Idiopathic constriction of the fetal ductus arteriosus", "Fetal ductus arteriosus narrowing-closure"], "types": ["T019"], "canonical_name": "Premature closure of the ductus arteriosus", "definition": "Closure of the ductus arteriosus prior to birth."} {"concept_id": "C0919718", "aliases": [], "types": ["T047"], "definition": "Abnormal calcification of the mitral valve. [HPO:probinson]", "canonical_name": "Mitral valve calcification"} {"concept_id": "C0919747", "aliases": ["Hypercytokinemia"], "types": ["T047"], "definition": "Excessive or uncontrolled release of proinflammatory cytokines. [PMID:22390970]", "canonical_name": "Cytokine storm"} {"concept_id": "C0919785", "aliases": [], "types": ["T033"], "canonical_name": "Decreased transferrin saturation", "definition": "A below normal level of saturation of serum transferrin with iron. [HPO:probinson]"} {"concept_id": "C0919890", "aliases": [], "types": ["T047"], "definition": "Abnormally high level of fibrinogen in the blood.", "canonical_name": "Hyperfibrinogenemia"} {"concept_id": "C0919912", "aliases": [], "types": ["T033"], "canonical_name": "Hypodipsia", "definition": "Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake. [PMID:25949488]"} {"concept_id": "C0919974", "aliases": ["Aboulia"], "types": ["T048"], "definition": "Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency. [HPO:probinson, PMID:16030444, UToronto:HTrang]", "canonical_name": "Abulia"} {"concept_id": "C0919997", "aliases": ["Thickened Achilles tendon"], "types": ["T033"], "canonical_name": "Thickened Achilles tendon", "definition": "An abnormal thickening of the Achilles tendon. [HPO:probinson]"} {"concept_id": "C0920048", "aliases": [], "types": ["T033"], "canonical_name": "Decreased vigilance", "definition": "A reduction in the ability to maintain sustained attention characterized by reduced alertness. [PMID:16581292]"} {"concept_id": "C0920163", "aliases": [], "types": ["T047"], "canonical_name": "Idiopathic thrombocytopenia"} {"concept_id": "C0920173", "aliases": [], "types": ["T033"], "canonical_name": "Increased CD4:CD8 ratio", "definition": "An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells. []"} {"concept_id": "C0920299", "aliases": ["Overriding toes", "Overlapping toes", "Overlapping toe"], "types": ["T190"], "definition": "Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. [HPO:probinson, PMID:19125433]", "canonical_name": "Crossover toe"} {"concept_id": "C0936215", "aliases": ["Reduced vitamin b6 levels", "Reduced circulating vitamin B6 level"], "types": ["T047"], "definition": "Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.", "canonical_name": "Vitamin B6 deficiency"} {"concept_id": "C0940767", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of the biliary system", "definition": "An abnormality of the biliary system. [HPO:probinson]"} {"concept_id": "C0947912", "aliases": ["Myasthenic weakness", "Proximal muscle weakness due to defect at the neuromuscular junction", "Fatigable weakness", "Fatigable weakness of limb muscles", "Generalized muscle weakness due to defect at the neuromuscular junction", "Myasthenia"], "types": ["T047"], "definition": "abnormal muscular weakness or fatigue", "canonical_name": "Generalised muscle weakness due to defect at the neuromuscular junction"} {"concept_id": "C0948008", "aliases": ["Ischemic stroke"], "types": ["T047"], "definition": "An acute episode of focal cerebral, spinal, or retinal dysfunction caused by infarction of brain tissue.", "canonical_name": "Ischaemic stroke"} {"concept_id": "C0948014", "aliases": ["Increased red blood cell distribution width"], "types": ["T033"], "canonical_name": "Increased RBC distribution width", "definition": "Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage. [PMID:27867951, PMID:28683798]"} {"concept_id": "C0948023", "aliases": [], "types": ["T033"], "canonical_name": "High urine phosphate levels"} {"concept_id": "C0948060", "aliases": [], "types": ["T047"], "canonical_name": "Iridocele"} {"concept_id": "C0948064", "aliases": [], "types": ["T033"], "canonical_name": "Nitrituria", "definition": "Presence of nitrites in the urine. [OHSU:jpgourdine, PMID:27377945]"} {"concept_id": "C0948089", "aliases": [], "types": ["T047"], "definition": "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.", "canonical_name": "Acute coronary syndrome"} {"concept_id": "C0948163", "aliases": ["Abnormal cerebral white matter morphology", "White matter alterations", "Abnormality of the cerebral white matter", "White matter abnormalities", "Abnormality of subcortical white matter", "Cerebral white matter abnormalities"], "types": ["T046"], "definition": "Non-specific white matter changes in the BRAIN, often seen after age 65. Changes include loss of AXONS; MYELIN pallor, GLIOSIS, loss of ependymal cells, and enlarged perivascular spaces. Leukoaraiosis is a risk factor for DEMENTIA and CEREBROVASCULAR DISORDERS.", "canonical_name": "Leukoaraiosis"} {"concept_id": "C0948187", "aliases": ["Tracheomalacia"], "types": ["T047"], "definition": "A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA. This results in a floppy tracheal wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing.", "canonical_name": "Floppy windpipe"} {"concept_id": "C0948242", "aliases": ["Foetal cystic hygroma"], "types": ["T019"], "definition": "The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas. [emedicine:402757, HPO:probinson]", "canonical_name": "Fetal cystic hygroma"} {"concept_id": "C0948355", "aliases": ["Myocardial bridging"], "types": ["T047"], "definition": "A malformation that is characterized by a muscle bridge over a segment of the CORONARY ARTERIES. Systolic contractions of the muscle bridge can lead to narrowing of coronary artery; coronary compression; MYOCARDIAL ISCHEMIA; MYOCARDIAL INFARCTION; and SUDDEN CARDIAC DEATH.", "canonical_name": "Intramyocardial coronary artery course"} {"concept_id": "C0948387", "aliases": ["Central adrenal insufficiency"], "types": ["T047"], "definition": "A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex.", "canonical_name": "Secondary adrenal insufficiency"} {"concept_id": "C0948441", "aliases": [], "types": ["T047"], "definition": "Partial or total occlusion of a vein. (ACC)", "canonical_name": "Venous occlusion"} {"concept_id": "C0948585", "aliases": ["Elevated urinary hydroxyproline"], "types": ["T033"], "canonical_name": "Hydroxyprolinuria", "definition": "An increased concentration of 4-hydroxy-L-proline in the urine. [HPO:gcarletti]"} {"concept_id": "C0948643", "aliases": ["High urine uric acid level"], "types": ["T033"], "definition": "An abnormally high level of uric acid in the urine. [HPO:probinson]", "canonical_name": "Hyperuricosuria"} {"concept_id": "C0948740", "aliases": [], "types": ["T047"], "canonical_name": "Hypoplasia of the pituitary gland", "definition": "Incomplete development of the pituitary gland."} {"concept_id": "C0948896", "aliases": ["Hypergonadotropic hypogonadism", "Hypergonadotrophic hypogonadism"], "types": ["T047"], "definition": "Ovarian or testicular dysfunction associated with high levels of gonadotropins.", "canonical_name": "Primary hypogonadism"} {"concept_id": "C0949059", "aliases": ["Colorectal polyps"], "types": ["T191"], "definition": "A polypoid lesion that arises from the colon or rectum and protrudes into the lumen. This group includes adenomatous polyps, serrated polyps, and hamartomatous polyps.", "canonical_name": "Colorectal polyposis"} {"concept_id": "C0949173", "aliases": ["Delayed start of first period"], "types": ["T047"], "definition": "First period after the age of 15 years. [HPO:probinson]", "canonical_name": "Delayed menarche"} {"concept_id": "C0949506", "aliases": [], "types": ["T047"], "definition": "The classical form of porokeratosis with isolated lesions.", "canonical_name": "Porokeratosis"} {"concept_id": "C0949628", "aliases": [], "types": ["T047"], "definition": "A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. Examples of uniparental disomy include the Prader-Willi syndrome and Angelman syndrome.", "canonical_name": "Uniparental disomy"} {"concept_id": "C0969675", "aliases": [], "types": ["T049"], "definition": "The presence in a cell of a chromosome pair that is composed of both homologous chromosomes from one parent.", "canonical_name": "Uniparental heterodisomy"} {"concept_id": "C0969676", "aliases": [], "types": ["T049"], "definition": "The presence in a cell of a chromosome pair that is composed of duplicates of one parental chromosome.", "canonical_name": "Uniparental isodisomy"} {"concept_id": "C0973461", "aliases": [], "types": ["T047"], "definition": "Impairment of verbal communication skills, often resulting from brain damage.", "canonical_name": "Dysphasia"} {"concept_id": "C0994638", "aliases": ["Abnormal pancreas location"], "types": ["T033"], "definition": "The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut. [HPO:curators]", "canonical_name": "Ectopic pancreatic tissue"} {"concept_id": "C1096086", "aliases": ["Lower limb deformities", "Abnormality of the lower limb"], "types": ["T190"], "definition": "An abnormality of the leg. [HPO:probinson]", "canonical_name": "Abnormality of the leg"} {"concept_id": "C1096099", "aliases": [], "types": ["T033"], "canonical_name": "Iris transillumination defect", "definition": "Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. [HPO:probinson, PMID:19920562]"} {"concept_id": "C1096249", "aliases": [], "types": ["T046"], "canonical_name": "Calcification of the aorta", "definition": "Calcification, that is, pathological deposition of calcium salts in the aorta. [HPO:probinson]"} {"concept_id": "C1096274", "aliases": ["Thin cornea"], "types": ["T047"], "definition": "A decreased anteroposterior thickness of the cornea. [HPO:gblack]", "canonical_name": "Decreased corneal thickness"} {"concept_id": "C1096298", "aliases": [], "types": ["T047"], "canonical_name": "Placental mesenchymal dysplasia", "definition": "Aberrant mesenchymal cell growth within the placenta. It may be associated with Beckwith-Wiedemann Syndrome."} {"concept_id": "C1096307", "aliases": [], "types": ["T033"], "canonical_name": "Splenic lesion"} {"concept_id": "C1096367", "aliases": ["Increased mean platelet volume"], "types": ["T033"], "definition": "Average platelet volume above the upper limit of the normal reference interval. [DDD:wouwehand]", "canonical_name": "Large platelets"} {"concept_id": "C1096368", "aliases": [], "types": ["T034"], "canonical_name": "Decreased mean platelet volume", "definition": "Average platelet volume below the lower limit of the normal reference interval. [DDD:wouwehand]"} {"concept_id": "C1096561", "aliases": ["Calcified myocardium"], "types": ["T046"], "canonical_name": "Myocardial calcification", "definition": "Calcium deposition in the myocardium. [HPO:probinson]"} {"concept_id": "C1096610", "aliases": ["Corneal crystals"], "types": ["T046"], "canonical_name": "Corneal deposits"} {"concept_id": "C1096654", "aliases": [], "types": ["T191"], "canonical_name": "Cardiac fibroma", "definition": "A rare benign heart neoplasm usually occurring in young children. It is characterized by the presence of bland spindle cells and collagenous stroma formation. Clinical presentation may include cardiac arrhythmia, cyanosis, heart failure or sudden death."} {"concept_id": "C1096710", "aliases": ["Plasma lactescence", "Milk-like serum"], "types": ["T033"], "canonical_name": "Lactescent serum", "definition": "Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level. [PMID:15368719]"} {"concept_id": "C1112161", "aliases": [], "types": ["T033"], "canonical_name": "Perianal erythema", "definition": "Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus. []"} {"concept_id": "C1112256", "aliases": ["Nerve damage causing decreased feeling and movement", "Sensorimotor peripheral neuropathy", "Mixed polyneuropathy"], "types": ["T047"], "canonical_name": "Sensorimotor neuropathy"} {"concept_id": "C1112387", "aliases": [], "types": ["T191"], "canonical_name": "Cardiac teratoma", "definition": "A teratoma that arises within the myocardium or cardiac chambers."} {"concept_id": "C1112433", "aliases": [], "types": ["T047"], "canonical_name": "Thromboembolic stroke", "definition": "A cerebrovascular accident (stroke) that occurs because of thromboembolism. [HPO:probinson]"} {"concept_id": "C1112436", "aliases": ["Abnormal QRS axis"], "types": ["T033"], "canonical_name": "Abnormal ventricular axis", "definition": "Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization. [PMID:29262101]"} {"concept_id": "C1112442", "aliases": [], "types": ["T048"], "definition": "A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity [PMID:26953829]", "canonical_name": "Female sexual dysfunction"} {"concept_id": "C1112443", "aliases": [], "types": ["T047"], "definition": "A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity [PMID:29532805]", "canonical_name": "Male sexual dysfunction"} {"concept_id": "C1112467", "aliases": ["Increased prothrombin induced by vitamin K absence-II"], "types": ["T033"], "canonical_name": "Increased PIVKA-II", "definition": "Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells. [HPO:pnrobinson, PMID:12717392]"} {"concept_id": "C1112601", "aliases": ["Hyperosmolar dehydration"], "types": ["T047"], "canonical_name": "Hypertonic dehydration"} {"concept_id": "C1112650", "aliases": [], "types": ["T033"], "canonical_name": "Increased QRS voltage", "definition": "Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm). []"} {"concept_id": "C1112768", "aliases": [], "types": ["T047"], "definition": "A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule. [HPO:probinson]", "canonical_name": "Anterior subcapsular cataract"} {"concept_id": "C1112776", "aliases": ["Large thyroid"], "types": ["T033"], "canonical_name": "Thyroid hyperplasia", "definition": "Hyperplasia of the thyroid gland. [HPO:probinson]"} {"concept_id": "C1135120", "aliases": [], "types": ["T184"], "definition": "Acute pain that comes on rapidly despite the use of pain medication.", "canonical_name": "Breakthrough pain"} {"concept_id": "C1135812", "aliases": ["Patellar dislocation", "Dislocation of patella", "Dislocated patellae"], "types": ["T037"], "definition": "Displacement of the PATELLA from the femoral groove.", "canonical_name": "Dislocated kneecap"} {"concept_id": "C1136026", "aliases": [], "types": ["T045"], "definition": "A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform. [HPO:probinson, ISBN:978-0192628961]", "canonical_name": "Oligogenic inheritance"} {"concept_id": "C1136033", "aliases": [], "types": ["T191"], "definition": "Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN.", "canonical_name": "Cutaneous mastocytosis"} {"concept_id": "C1136042", "aliases": ["Bilateral vestibular schwannoma"], "types": ["T191"], "definition": "A bilateral vestibular Schwannoma (acoustic neurinoma). [HPO:curators]", "canonical_name": "Bilateral acoustic neuromas"} {"concept_id": "C1136179", "aliases": ["Hammertoe", "Hammertoes"], "types": ["T190"], "definition": "Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. [PMID:19125433]", "canonical_name": "Hammer toe"} {"concept_id": "C1136382", "aliases": [], "types": ["T047"], "canonical_name": "Sclerocystic ovaries"} {"concept_id": "C1138421", "aliases": [], "types": ["T033"], "canonical_name": "Spider veins"} {"concept_id": "C1140680", "aliases": [], "types": ["T191"], "definition": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.", "canonical_name": "Ovarian cancer"} {"concept_id": "C1141883", "aliases": ["Headlag", "Persistent head lag"], "types": ["T033"], "definition": "The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. [PMID:26709421]", "canonical_name": "Head lag"} {"concept_id": "C1142113", "aliases": ["Hyperalbuminemia", "High blood albumin levels"], "types": ["T046"], "definition": "Elevation in the concentration of albumin in the blood. [HPO:probinson]", "canonical_name": "Hyperalbuminaemia"} {"concept_id": "C1142132", "aliases": ["Decreased plasma carnitine"], "types": ["T033"], "definition": "A decreased concentration of carnitine in the blood. [HPO:gcarletti]", "canonical_name": "Carnitine deficiency"} {"concept_id": "C1142232", "aliases": ["Ileo-cecal ulcer"], "types": ["T047"], "canonical_name": "Ileocecal ulcer", "definition": "An erosion of the mucous membrane in the region connecting the ileum and cecum. [PMID:28744345]"} {"concept_id": "C1142262", "aliases": ["Intestinal oedema"], "types": ["T046"], "canonical_name": "Intestinal edema", "definition": "Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. [HPO:6045396, HPO:probinson]"} {"concept_id": "C1142305", "aliases": [], "types": ["T033"], "definition": "Brown or black discoloration of the nails. [HPO:probinson]", "canonical_name": "Melanonychia"} {"concept_id": "C1142430", "aliases": [], "types": ["T048"], "definition": "Movements, behaviors and sensations similar to a seizure, but due to psychological distress instead of a neurological disorder.", "canonical_name": "Psychogenic non-epileptic seizure"} {"concept_id": "C1142448", "aliases": ["Difficulty opening the eyelids"], "types": ["T033"], "canonical_name": "Eyelid apraxia"} {"concept_id": "C1142533", "aliases": ["Flat philtrum", "Philtrum, smooth", "Shallow philtrum", "Simple philtrum", "Indistinct philtrum", "Decreased depth of philtrum"], "types": ["T033"], "canonical_name": "Smooth philtrum", "definition": "Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. [PMID:19152422]"} {"concept_id": "C1142551", "aliases": [], "types": ["T033"], "definition": "An electrocardiographic finding in which there is an alternating pattern of any of the waveform components.", "canonical_name": "Electrical alternans"} {"concept_id": "C1145670", "aliases": [], "types": ["T047"], "definition": "The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function.", "canonical_name": "Respiratory failure"} {"concept_id": "C1148552", "aliases": [], "types": ["T045"], "definition": "A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci. [HPO:probinson, ISBN:978-0192628961]", "canonical_name": "Polygenic inheritance"} {"concept_id": "C1167670", "aliases": ["Increased levels of animo acids in urine"], "types": ["T033"], "canonical_name": "High urine amino acid levels"} {"concept_id": "C1167712", "aliases": [], "types": ["T033"], "canonical_name": "Increased corneal diameter"} {"concept_id": "C1167713", "aliases": [], "types": ["T033"], "canonical_name": "Decreased corneal diameter"} {"concept_id": "C1167806", "aliases": [], "types": ["T033"], "definition": "An abnormally increased level of circulationg alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant. [PMID:15663032]", "canonical_name": "Increased alpha-globulin"} {"concept_id": "C1167918", "aliases": ["Increased cerebrospinal fluid lactate", "Hyperlactatorachia", "Increased CSF lactic acid"], "types": ["T033"], "canonical_name": "Increased CSF lactate", "definition": "Increased concentration of lactate in the cerebrospinal fluid. [HPO:curators]"} {"concept_id": "C1168004", "aliases": ["Low CSF albumin"], "types": ["T033"], "canonical_name": "Decreased CSF albumin concentration", "definition": "CSF albumin level is below the lower limit of normal. [ORCID:0000-0003-0169-8159, PMID:27388694]"} {"concept_id": "C1168153", "aliases": [], "types": ["T046"], "canonical_name": "Arterial calcification", "definition": "Pathological deposition of calcium salts in one or more arteries. [HPO:probinson, PMID:18519861]"} {"concept_id": "C1168239", "aliases": ["Asymmetric ears"], "types": ["T033"], "canonical_name": "Asymmetry of the ears", "definition": "An asymmetriy, i.e., difference in size, shape or position between the left and right ear. [HPO:probinson]"} {"concept_id": "C1168510", "aliases": ["Increased valine in urine"], "types": ["T033"], "canonical_name": "Valinuria", "definition": "Urine valine level above the normal range. [NSTRN:jmiller]"} {"concept_id": "C1184919", "aliases": ["Accentuated thoracic kyphosis", "Exaggerated thoracic kyphosis"], "types": ["T190"], "canonical_name": "Thoracic kyphosis", "definition": "Over curvature of the thoracic region, leading to a round back or if sever to a hump. [HPO:probinson]"} {"concept_id": "C1184923", "aliases": ["Lumbar lordosis", "Exaggerated lumbar lordosis", "Increased lumbar lordosis", "Prominent lumbar lordosis", "Lumbar hyperlordosis"], "types": ["T190"], "definition": "An abnormal accentuation of the inward curvature of the spine in the lumbar region. [HPO:probinson]", "canonical_name": "Excessive inward curvature of lower spine"} {"concept_id": "C1185616", "aliases": ["Frontal Cowlick", "Upswept frontal hair", "Frontal upsweep of hair"], "types": ["T033"], "definition": "Upward and/or sideward growth of anterior hair. [PMID:19125436]", "canonical_name": "Cowlick"} {"concept_id": "C1257861", "aliases": [], "types": ["T184"], "definition": "Symptom characterized by the passage of stool once a week or less.", "canonical_name": "Colonic inertia"} {"concept_id": "C1257877", "aliases": ["Pheochromocytoma, extraadrenal"], "types": ["T191"], "definition": "A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.", "canonical_name": "Extraadrenal pheochromocytoma"} {"concept_id": "C1257915", "aliases": ["Intestinal polyposis"], "types": ["T047"], "definition": "The growth of INTESTINAL POLYPS. Growth processes include neoplastic (ADENOMA and CARCINOMA) and non-neoplastic (hyperplastic, mucosal, inflammatory, and other polyps).", "canonical_name": "Multiple intestinal polyps"} {"concept_id": "C1258215", "aliases": ["Ileus"], "types": ["T047"], "definition": "A condition caused by the lack of intestinal PERISTALSIS or INTESTINAL MOTILITY without any mechanical obstruction. This interference of the flow of INTESTINAL CONTENTS often leads to INTESTINAL OBSTRUCTION. Ileus may be classified into postoperative, inflammatory, metabolic, neurogenic, and drug-induced.", "canonical_name": "Gastrointestinal atony"} {"concept_id": "C1260438", "aliases": ["Delayed separation of umbilical cord"], "types": ["T046"], "definition": "Separation of the umbilical cord occurs at an abnormally late timepoint. [PMID:11483823]", "canonical_name": "Delayed umbilical cord separation"} {"concept_id": "C1260880", "aliases": ["Nasal Discharge", "Runny Nose"], "types": ["T184"], "definition": "A discharge of fluid from the nose.", "canonical_name": "Rhinorrhea"} {"concept_id": "C1260890", "aliases": ["Duplication of spinal cord"], "types": ["T019"], "definition": "Duplication of the spinal cord. [HPO:sdoelken]", "canonical_name": "Diplomyelia"} {"concept_id": "C1260899", "aliases": [], "types": ["T047"], "definition": "A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)", "canonical_name": "Congenital hypoplastic anemia"} {"concept_id": "C1260903", "aliases": ["Dysfibrinogenemia"], "types": ["T047"], "definition": "A coagulation disorder caused by abnormalities in fibrin that result in defective clot formation. This disorder may be inherited or acquired.", "canonical_name": "Dysfibrinogenaemia"} {"concept_id": "C1260922", "aliases": ["Functional respiratory abnormality", "Abnormal respiratory system physiology"], "types": ["T033"], "definition": "When you're short of breath, it's hard or uncomfortable for you to take in the oxygen your body needs. You may feel as if you're not getting enough air. Sometimes you can have mild breathing problems because of a stuffy nose or intense exercise. But shortness of breath can also be a sign of a serious disease.
Many conditions can make you feel short of breath:
If you often have trouble breathing, it is important to find out the cause.
", "canonical_name": "Abnormal respiration"} {"concept_id": "C1260926", "aliases": ["Pigmentation anomaly", "Pigmentary skin changes", "Abnormality of pigmentation", "Abnormal pigmentation", "Abnormal skin color", "Abnormal skin colour", "Abnormal skin pigmentation", "Pigmentary changes"], "types": ["T033"], "definition": "An abnormality in the formation or distribution of pigment in the skin, hair or nails.", "canonical_name": "Abnormality of skin pigmentation"} {"concept_id": "C1260959", "aliases": [], "types": ["T047"], "definition": "Subretinal accumulation of extracellular matrix components.", "canonical_name": "Drusen"} {"concept_id": "C1261392", "aliases": ["Insect bite allergy"], "types": ["T046"], "definition": "Hypersensitivity in form of an adverse immune reaction against insect bites. []", "canonical_name": "Allergy to insect bites"} {"concept_id": "C1261473", "aliases": ["Malignant connective tissue tumour", "Sarcoma", "Cancer of connective tissue"], "types": ["T191"], "definition": "A connective tissue neoplasm formed by proliferation of mesodermal cells; it is usually highly malignant.", "canonical_name": "Malignant connective tissue tumor"} {"concept_id": "C1261504", "aliases": [], "types": ["T019"], "definition": "An abnormality of XY sexual development characterized by the absence of both testes at birth. [HPO:probinson]", "canonical_name": "Anorchism"} {"concept_id": "C1262020", "aliases": [], "types": ["T047"], "canonical_name": "Diffuse alveolar damage", "definition": "Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation. [LMU:mgriese, PMID:28570160, PMID:32364264]"} {"concept_id": "C1262166", "aliases": ["Parasite allergy", "Allergy to parasites"], "types": ["T046"], "canonical_name": "Parasite allergy", "definition": "Hypersensitivity in form of an adverse immune reaction against parasites. []"} {"concept_id": "C1262254", "aliases": ["Bluish around mouth"], "types": ["T033"], "canonical_name": "Circumoral cyanosis", "definition": "Persistent blue color of the skin that surrounds the mouth. [PMID:2797223]"} {"concept_id": "C1262313", "aliases": [], "types": ["T047"], "definition": "Mycoses which manifest as infections of deep tissue or blood.", "canonical_name": "Invasive fungal infection"} {"concept_id": "C1262477", "aliases": ["Loss of weight"], "types": ["T033"], "definition": "Decrease in existing BODY WEIGHT.", "canonical_name": "Weight loss"} {"concept_id": "C1262481", "aliases": ["Eosinophilic gastrointestinal disease", "Gastrointestinal eosinophilia", "Eosinophilic enteritis", "Eosinophilic gastroenteritis", "GI eosinophilia"], "types": ["T047"], "definition": "Gastroenteritis that is characterized by eosinophilic infiltration.", "canonical_name": "Eosinophilic gastrointestinal disorders"} {"concept_id": "C1263023", "aliases": ["Large testicles", "Macroorchidism"], "types": ["T033"], "definition": "The presence of abnormally large testes. [HPO:probinson]", "canonical_name": "Large testis"} {"concept_id": "C1263846", "aliases": ["Attention deficits", "ADHD", "Attention deficit disorder", "Attention deficit", "Childhood attention deficit/hyperactivity disorder", "Attention deficit hyperactivity disorder"], "types": ["T048"], "definition": "A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V)", "canonical_name": "Attention deficit-hyperactivity disorder"} {"concept_id": "C1263857", "aliases": ["Axonal peripheral neuropathy"], "types": ["T047"], "definition": "An abnormality characterized by disruption of the normal functioning of peripheral axons. [HPO:probinson]", "canonical_name": "Peripheral axonal neuropathy"} {"concept_id": "C1264056", "aliases": ["Submandibular lymph node enlargement"], "types": ["T046"], "definition": "Increased size of the lymph nodes that are located beneath the mandible (lower jaw). []", "canonical_name": "Submandibular lymphadenopathy"} {"concept_id": "C1264195", "aliases": ["Refractory anaemia with ringed sideroblasts", "Refractory anemia with ringed sideroblasts"], "types": ["T191"], "definition": "A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ring sideroblasts. The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain. (WHO, 2001)", "canonical_name": "Myelodysplasia with sideroblastosis"} {"concept_id": "C1265776", "aliases": ["Telangiectases, random body distribution", "Diffuse telangiectasia"], "types": ["T033"], "definition": "Telangiectases (small dilated blood vessels) with a diffuse localization. [HPO:curators]", "canonical_name": "Diffuse telangiectases"} {"concept_id": "C1265968", "aliases": [], "types": ["T033"], "definition": "A morphologic finding indicating increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum in a skin or squamous mucosa sample.", "canonical_name": "Hyperparakeratosis"} {"concept_id": "C1266060", "aliases": ["Syringofibroadenoma", "Eccrine syringofibroadenomatous hyperplasia", "Acrosyringeal adenomatosis"], "types": ["T191"], "definition": "A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma.", "canonical_name": "Eccrine syringofibroadenoma"} {"concept_id": "C1266142", "aliases": [], "types": ["T191"], "definition": "A benign, asymptomatic kidney tumor arising from renomedullary interstitial cells. It is often found incidentally at the time of nephrectomy in adults. These tumors are either single or multiple and usually measure 1-10 mm in diameter. Microscopically the tumor cells are small, stellate, or spindled cells, embedded in a faintly basophilic stroma reminiscent of renal medullary stroma. (WHO 2016)", "canonical_name": "Renal hamartoma"} {"concept_id": "C1266144", "aliases": [], "types": ["T191"], "definition": "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.", "canonical_name": "Pleuropulmonary blastoma"} {"concept_id": "C1266177", "aliases": ["Dysembryoplastic neuroepithelial tumor", "DNET"], "types": ["T191"], "definition": "A benign glial-neuronal neoplasm. It is usually supratentorial, located in the cortex. It occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface. (Adapted from WHO)", "canonical_name": "DNT"} {"concept_id": "C1269700", "aliases": ["Caliectasis", "Caliceal dilatation"], "types": ["T190"], "definition": "An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. [HPO:sdoelken]", "canonical_name": "Dilatation of renal calices"} {"concept_id": "C1271100", "aliases": [], "types": ["T033"], "definition": "Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis [HPO:probinson, UKT:rschuele]", "canonical_name": "Lower limb spasticity"} {"concept_id": "C1271219", "aliases": ["Ectopia pupillae", "Corectopia"], "types": ["T019"], "definition": "A malposition of the pupil owing to a developmental defect of the iris. [DDD:gblack, HPO:probinson]", "canonical_name": "Displaced pupil"} {"concept_id": "C1272092", "aliases": [], "types": ["T033"], "definition": "Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG. [ORCID:0000-0001-7505-5418, PMID:17327355, PMID:29763085]", "canonical_name": "Impaired fasting glucose"} {"concept_id": "C1272766", "aliases": [], "types": ["T047"], "definition": "Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways. [LMU:mgriese, PMID:32040879, PMID:32047693]", "canonical_name": "Follicular bronchiolitis"} {"concept_id": "C1273070", "aliases": [], "types": ["T047"], "definition": "Abnormal function of the left ventricule during left ventricular relaxation and filling. [PMID:12527689, PMID:14594874]", "canonical_name": "Left ventricular diastolic dysfunction"} {"concept_id": "C1273957", "aliases": ["Upper limb spasticity"], "types": ["T033"], "canonical_name": "Uncontrollable movement in upper arms"} {"concept_id": "C1274321", "aliases": ["Recurrent herpes labialis"], "types": ["T047"], "definition": "Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus. []", "canonical_name": "Recurrent oral herpes"} {"concept_id": "C1274323", "aliases": [], "types": ["T047"], "definition": "Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks. [PMID:27532832]", "canonical_name": "Recurrent genital herpes"} {"concept_id": "C1274743", "aliases": ["Hyperhidrosis of palms and soles", "Excessive sweating of palms and soles"], "types": ["T047"], "definition": "An abnormally increased perspiration on palms and soles. [HPO:probinson]", "canonical_name": "Palmoplantar hyperhidrosis"} {"concept_id": "C1274865", "aliases": [], "types": ["T047"], "canonical_name": "Pseudoscleroderma"} {"concept_id": "C1275684", "aliases": ["Meibomian gland disease", "Posterior blepharitis"], "types": ["T047"], "definition": "A chronic dysfunction of MEIBOMIAN GLANDS characterized by altered tear film stability and function due to a decrease or alteration in lipid quality/content in meibum. It is often associated with evaporative-type DRY EYE SYNDROME.", "canonical_name": "Meibomian gland dysfunction"} {"concept_id": "C1275809", "aliases": ["Levotransposition of the great arteries"], "types": ["T019"], "definition": "A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery. []", "canonical_name": "L-TGA"} {"concept_id": "C1276000", "aliases": [], "types": ["T047"], "definition": "A type of divergent strabismus (exotropia) that develops in a poorly seeing eye. [ORCID:0000-0003-0986-4123]", "canonical_name": "Sensory exotropia"} {"concept_id": "C1276001", "aliases": [], "types": ["T047"], "definition": "A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye. [ORCID:0000-0003-0986-4123, PMID:11545636]", "canonical_name": "Inferior oblique muscle overaction"} {"concept_id": "C1276002", "aliases": [], "types": ["T047"], "definition": "An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye. [ORCID:0000-0003-0986-4123, PMID:11545636]", "canonical_name": "Superior oblique muscle overaction"} {"concept_id": "C1276035", "aliases": ["Foetal akinesia sequence"], "types": ["T047"], "definition": "A condition characterized by fetal akinesia and intrauterine growth restriction, that may be associated with mutation(s) in the RAPSN or DOK7 genes, encoding 43 kDa receptor-associated protein of the synapse and protein Dok-7, respectively.", "canonical_name": "Fetal akinesia sequence"} {"concept_id": "C1276238", "aliases": [], "types": ["T047"], "definition": "Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development. [PMID:10414639]", "canonical_name": "Delayed adrenarche"} {"concept_id": "C1276265", "aliases": ["Blister cells", "Bite cells"], "types": ["T025"], "definition": "Red blood cells that appear to have parts of them bitten away. [ISBN:978-0-07174889-6]", "canonical_name": "Degmacytes"} {"concept_id": "C1277187", "aliases": [], "types": ["T047"], "definition": "The degree of impairment of the left cardiac ventricle to contract efficiently. (ACC)", "canonical_name": "Left ventricular systolic dysfunction"} {"concept_id": "C1277241", "aliases": [], "types": ["T033"], "definition": "Delayed myelination. [ORCID:0000-0001-5208-3432]", "canonical_name": "Delayed myelination"} {"concept_id": "C1278278", "aliases": ["Immotile sperm"], "types": ["T033"], "definition": "A lack of mobility of ejaculated sperm. [HPO:probinson]", "canonical_name": "Nonmotile sperm"} {"concept_id": "C1279296", "aliases": ["Chronic leukemia"], "types": ["T191"], "definition": "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.", "canonical_name": "Chronic leukaemia"} {"concept_id": "C1279412", "aliases": ["Periodic paralysis"], "types": ["T047"], "definition": "Episodes of muscle weakness. [HPO:probinson]", "canonical_name": "Episodic paralysis"} {"concept_id": "C1279621", "aliases": [], "types": ["T047"], "definition": "Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles. [PMID:22435879, PMID:29861637]", "canonical_name": "Majocchi's granuloma"} {"concept_id": "C1279843", "aliases": ["Abnormal fecal test result", "Abnormal feces composition", "Abnormal stool composition"], "types": ["T033"], "definition": "Abnormal level of metabolite or other abnormal analyte result in a stool test. []", "canonical_name": "Abnormal faeces composition"} {"concept_id": "C1280433", "aliases": ["Loss of fat tissue in localised area", "Loss of fat tissue in localized area", "Atrophy of fat"], "types": ["T047"], "definition": "Localized loss of fat tissue. [HPO:sdoelken]", "canonical_name": "Lipoatrophy"} {"concept_id": "C1281931", "aliases": [], "types": ["T033"], "definition": "Blockage of the lacrimal duct. [HPO:probinson]", "canonical_name": "Nasolacrimal duct obstruction"} {"concept_id": "C1282204", "aliases": [], "types": ["T047"], "definition": "A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy. [ISBN-13:9781416029076, ORCID:0000-0003-0986-4123]", "canonical_name": "Paralytic ectropion"} {"concept_id": "C1282318", "aliases": [], "types": ["T037"], "canonical_name": "Wedge fractured vertebra"} {"concept_id": "C1282371", "aliases": ["Dermolipoma of the conjunctiva"], "types": ["T191"], "definition": "A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix. [PMID:25586714]", "canonical_name": "Conjunctival lipodermoid"} {"concept_id": "C1282376", "aliases": [], "types": ["T047"], "canonical_name": "Divergence insufficiency"} {"concept_id": "C1282609", "aliases": [], "types": ["T047"], "definition": "An increased count of granulocytes in the peripheral blood circulation. []", "canonical_name": "Granulocytosis"} {"concept_id": "C1282952", "aliases": ["Inflammation of sharpey fibres", "Inflammation of sharpey fibers"], "types": ["T047"], "definition": "Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.", "canonical_name": "Enthesitis"} {"concept_id": "C1283386", "aliases": ["Post-capillary pulmonary hypertension"], "types": ["T047"], "definition": "Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). [ORCID:0000-0002-4095-8489, PMID:30545968]", "canonical_name": "Postcapillary pulmonary hypertension"} {"concept_id": "C1285291", "aliases": ["Fetal ascites"], "types": ["T047"], "definition": "Accumulation of fluid in the peritoneal cavity during the fetal period. [HPO:probinson]", "canonical_name": "Foetal ascites"} {"concept_id": "C1285334", "aliases": ["Cartilage inflammation"], "types": ["T047"], "definition": "Inflammation of cartilage. [HPO:sdoelken]", "canonical_name": "Chondritis"} {"concept_id": "C1286315", "aliases": [], "types": ["T201"], "definition": "A pain characteristic is defined as a subjective category or type of pain. []", "canonical_name": "Pain characteristic"} {"concept_id": "C1288283", "aliases": [], "types": ["T047"], "definition": "Benign DERMATOSIS caused by a loss of dermal ELASTIC TISSUE resulting in localized sac-like areas of flaccid skin. It can be either primary (idiopathic) or secondary to other skin conditions, PENICILLAMINE use, or premature birth.", "canonical_name": "Anetoderma"} {"concept_id": "C1290344", "aliases": ["Nonspecific interstitial pneumonia", "Temporally uniform pulmonary inflammation", "Nonspecific interstitial pneumonitis"], "types": ["T047"], "definition": "Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia.", "canonical_name": "NSIP"} {"concept_id": "C1290398", "aliases": [], "types": ["T047"], "definition": "A balloon type pouch or bulge in the wall of a cerebral artery.", "canonical_name": "Cerebral artery aneurysm"} {"concept_id": "C1290497", "aliases": ["Missing portal vein", "CAPV"], "types": ["T019"], "definition": "Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts. [PMID:18932274, PMID:2053351]", "canonical_name": "Congenital absence of portal vein"} {"concept_id": "C1290508", "aliases": ["Abnormal number of teeth", "Abnormal tooth count"], "types": ["T033"], "definition": "The presence of an altered number of of teeth. [HPO:ibailleulforestier]", "canonical_name": "Abnormal complement of teeth"} {"concept_id": "C1290511", "aliases": ["Agenesis of permanent dentition", "Failure of development of permanent teeth", "Failure of development of secondary teeth", "Absent permanent teeth", "Agenesis of permanent teeth", "Absence of permanent teeth"], "types": ["T019"], "definition": "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. [HPO:probinson]", "canonical_name": "Agenesis of secondary dentition"} {"concept_id": "C1290708", "aliases": ["Lower jaw bone infection", "Osteomyelitis, especially of the mandible"], "types": ["T047"], "definition": "Osteomyelitis of the lower jaw. []", "canonical_name": "Mandibular osteomyelitis"} {"concept_id": "C1290857", "aliases": ["Disorder of the face"], "types": ["T047"], "canonical_name": "Disorder of face"} {"concept_id": "C1290999", "aliases": ["Froment sign"], "types": ["T184"], "definition": "An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint. [PMID:12916637]", "canonical_name": "Froment thumb sign"} {"concept_id": "C1291045", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal peristalsis", "definition": "An anomaly of the wave-like muscle contractions of the digestive tract. [HPO:probinson]"} {"concept_id": "C1291070", "aliases": ["Abnormality of the dental root", "Abnormality of tooth root", "Dental root anomaly"], "types": ["T190"], "definition": "An abnormality of the dental root. [HPO:ibailleulforestier]", "canonical_name": "Abnormal dental root morphology"} {"concept_id": "C1291155", "aliases": ["Increased cholesterol esters", "Elevated cholesteryl ester level", "Elevated cholesterol ester level"], "types": ["T033"], "definition": "An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol. []", "canonical_name": "Increased cholesteryl esters"} {"concept_id": "C1291266", "aliases": [], "types": ["T047"], "definition": "A reduction in aldehyde oxidase level. [HPO:probinson]", "canonical_name": "Aldehyde oxidase deficiency"} {"concept_id": "C1291667", "aliases": ["Magnesium ammonium phosphate crystalluria"], "types": ["T031"], "definition": "Magnesium ammonium phosphate crystals in the urine. []", "canonical_name": "Struvite urinary crystals"} {"concept_id": "C1292120", "aliases": [], "types": ["T033"], "canonical_name": "Extramedullary erythropoiesis"} {"concept_id": "C1295585", "aliases": ["Decreased vibratory sense", "Impaired vibratory sensation", "Impaired vibratory sense", "Hypopallesthesia", "Decreased vibration sense"], "types": ["T033"], "definition": "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. [HPO:probinson]", "canonical_name": "Diminished vibratory sense"} {"concept_id": "C1295607", "aliases": ["Decreased plasma TSH", "Decreased thyrotropin level"], "types": ["T033"], "definition": "Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. []", "canonical_name": "Decreased thyroid-stimulating hormone level"} {"concept_id": "C1295643", "aliases": ["Increased serum oestradiol", "Increased estradiol level"], "types": ["T033"], "definition": "An elevation above normal limits of the concentration of estradiol in the circulation. []", "canonical_name": "Increased serum estradiol"} {"concept_id": "C1295654", "aliases": [], "types": ["T033"], "canonical_name": "Decreased testosterone"} {"concept_id": "C1295677", "aliases": [], "types": ["T033"], "definition": "An elevated concentration of glucagon in the blood circulation. []", "canonical_name": "Increased glucagon level"} {"concept_id": "C1295678", "aliases": [], "types": ["T033"], "definition": "A reduced concentration of glucagon in the blood circulation. []", "canonical_name": "Decreased glucagon level"} {"concept_id": "C1298634", "aliases": [], "types": ["T079"], "definition": "Gradual, very slow onset of disease manifestations. [HPO:probinson]", "canonical_name": "Insidious onset"} {"concept_id": "C1298695", "aliases": ["Hypoplastic optic disks", "Hypoplastic optic discs"], "types": ["T019"], "definition": "Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. [HPO:probinson]", "canonical_name": "Optic disc hypoplasia"} {"concept_id": "C1298817", "aliases": [], "types": ["T047"], "definition": "Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD. [DDD:dbrown]", "canonical_name": "Non-restrictive ventricular septal defect"} {"concept_id": "C1298820", "aliases": ["Aortic root aneurysm", "Increased aortic root diameter"], "types": ["T190"], "definition": "An abnormal balloon- or sac-like dilatation in the wall of the AORTIC ROOT.", "canonical_name": "Bulge in wall of root of large artery that carries blood away from heart"} {"concept_id": "C1299694", "aliases": [], "types": ["T033"], "canonical_name": "Glaucomatous visual field defect"} {"concept_id": "C1299892", "aliases": ["Mittendorf dot"], "types": ["T019"], "definition": "This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot. []", "canonical_name": "Glial remnants posterior to lens"} {"concept_id": "C1300128", "aliases": ["Villitis of unknown etiology", "Villitis of unknown aetiology", "Nonspecific chronic villitis"], "types": ["T047"], "canonical_name": "Chronic villitis", "definition": "T-cell immune response with diffuse perivillous fibrin deposition associated with intrauterine growth restriction, pre-term birth and recurrent fetal loss."} {"concept_id": "C1300267", "aliases": [], "types": ["T047"], "definition": "A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. Digits on the radial side of the hand are less severely affected than those on the ulnar side. The feet are similarly affected but less severely. Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present.", "canonical_name": "Type B brachydactyly"} {"concept_id": "C1301149", "aliases": ["Abnormality of mast cells", "Abnormality of mastocytes"], "types": ["T190"], "definition": "Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. [HPO:sdoelken]", "canonical_name": "Abnormal mast cell morphology"} {"concept_id": "C1301509", "aliases": ["Severe visual loss", "Marked vision impairment", "Severely impaired vision", "Severe reduction in visual acuity", "Severe vision loss", "Severely reduced visual acuity"], "types": ["T047"], "definition": "Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation). [PMID:28779882]", "canonical_name": "Severe visual impairment"} {"concept_id": "C1301510", "aliases": ["Moderate visual impairment", "Moderate reduction in visual acuity", "Moderate visual loss", "Moderately reduced visual acuity"], "types": ["T033"], "definition": "Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation). [ORCID:0000-0001-5208-3432, PMID:28779882]", "canonical_name": "Moderate vision loss"} {"concept_id": "C1301937", "aliases": [], "types": ["T019"], "definition": "Deformity in which the foot is misaligned with respect to the TALUS in the ANKLE JOINT. While mostly congenital, as in CLUBFOOT, acquired deformities are included. Acquired talipedes are often associated with other foot deformities such as SYNDACTYLY and POLYDACTYLY.", "canonical_name": "Talipes"} {"concept_id": "C1301959", "aliases": ["Bulbar weakness"], "types": ["T047"], "canonical_name": "Bulbar muscle weakness"} {"concept_id": "C1302264", "aliases": ["Tetralogy of Fallot with absent pulmonary valve syndrome"], "types": ["T019"], "definition": "Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue. [DDD:dbrown]", "canonical_name": "Tetralogy of Fallot with absent pulmonary valve"} {"concept_id": "C1302645", "aliases": [], "types": ["T190"], "definition": "A non-neoplastic, hamartomatous polyp that arises from the small intestine. It includes the juvenile polyp and Peutz-Jeghers polyp.", "canonical_name": "Small intestinal polyp"} {"concept_id": "C1302724", "aliases": ["Skin hamartoma"], "types": ["T191"], "definition": "A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin. []", "canonical_name": "Cutaneous hamartoma"} {"concept_id": "C1302995", "aliases": ["Congenital ophthalmoplegia", "Congenital fibrosis of extraocular muscles", "Congenital fibrosis of the extraocular muscles"], "types": ["T047"], "definition": "Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. [HPO:probinson]", "canonical_name": "CFEOM"} {"concept_id": "C1302999", "aliases": [], "types": ["T047"], "definition": "Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.", "canonical_name": "Ankyloblepharon filiforme adnatum"} {"concept_id": "C1303001", "aliases": [], "types": ["T019"], "definition": "Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. [HPO:probinson, PMID:15249382, PMID:15530943, PMID:24719364]", "canonical_name": "Euryblepharon"} {"concept_id": "C1303002", "aliases": [], "types": ["T033"], "definition": "A type of epicanthus in which a primarily upper lid fold is present. [ORCID:0000-0003-0986-4123]", "canonical_name": "Epicanthus tarsalis"} {"concept_id": "C1303003", "aliases": [], "types": ["T033"], "definition": "A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. [PMID:19125427]", "canonical_name": "Epicanthus inversus"} {"concept_id": "C1303004", "aliases": [], "types": ["T047"], "definition": "A type of epicanthus in which a medial vertical fold is present between upper and lower lids. [ORCID:0000-0003-0986-4123]", "canonical_name": "Epicanthus palpebralis"} {"concept_id": "C1303007", "aliases": ["Iris brushfield spots"], "types": ["T033"], "definition": "The presence of whitish spots in a ring-like arrangement at the periphery of the iris. [HPO:probinson]", "canonical_name": "Brushfield spots"} {"concept_id": "C1303009", "aliases": [], "types": ["T019"], "definition": "Abnormal (non-physiological) constriction of the pupil of congenital onset. [HPO:probinson]", "canonical_name": "Congenital miosis"} {"concept_id": "C1303076", "aliases": ["Carotid artery tortuosity"], "types": ["T033"], "definition": "Abnormal tortuous (i.e., twisted) form of the carotid arteries. [HPO:probinson]", "canonical_name": "Tortuous carotid arteries"} {"concept_id": "C1304511", "aliases": [], "types": ["T191"], "definition": "A hemangioma associated with Castleman disease and POEMS syndrome. The lesions affect the trunk and extremities and present as erythematous papules. (WHO 2018)", "canonical_name": "Glomeruloid hemangioma"} {"concept_id": "C1305215", "aliases": ["Fracture of the forearm", "Broken forearm"], "types": ["T037"], "definition": "A traumatic break in the radius or ulna bone.", "canonical_name": "Fractured forearm bones"} {"concept_id": "C1305420", "aliases": ["Prominent ear"], "types": ["T019"], "canonical_name": "Prominent ears"} {"concept_id": "C1306038", "aliases": [], "types": ["T047"], "definition": "Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum. [PMID:21810958]", "canonical_name": "Pulmonary histoplasmosis"} {"concept_id": "C1306122", "aliases": [], "types": ["T047"], "definition": "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.", "canonical_name": "Night blindness, congenital"} {"concept_id": "C1306214", "aliases": ["ACTH-producing pituitary adenoma", "Corticotropin-secreting pituitary adenoma"], "types": ["T191"], "definition": "An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion.", "canonical_name": "Pituitary corticotropic cell adenoma"} {"concept_id": "C1306587", "aliases": [], "types": ["T047"], "canonical_name": "Acute encephalopathy", "definition": "A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes."} {"concept_id": "C1306710", "aliases": ["Uneven face", "Asymmetric facies", "Asymmetry of face", "Uneven sides of face", "Facial asymmetry", "Unsymmetrical face", "Crooked face", "Asymmetry of right and left side of face", "Unequal sides of face"], "types": ["T033"], "definition": "Congenital or acquired asymmetry of the face.", "canonical_name": "Unbalanced face"} {"concept_id": "C1306837", "aliases": [], "types": ["T191"], "definition": "Also known as chromophil carcinoma, it represents a minority of renal cell carcinomas. It can be hereditary or sporadic. The sporadic papillary renal cell carcinoma is characterized by trisomy of chromosomes 7, 16, and 17, and loss of chromosome Y. The peak incidence is in the sixth and seven decades. It is classified as type 1 or 2, based on the cytoplasmic volume and the thickness of the lining neoplastic cells. The prognosis is more favorable than for conventional (clear cell) renal cell carcinoma.", "canonical_name": "Papillary renal cell carcinoma"} {"concept_id": "C1306857", "aliases": [], "types": ["T033"], "definition": "abnormally high globulin content of the blood.", "canonical_name": "Hyperglobulinemia"} {"concept_id": "C1306889", "aliases": [], "types": ["T047"], "definition": "Disorder caused by the occlusion of the lumen of the peripheral arteries. Causes include atherosclerosis, inflammatory processes, thrombosis, and embolism. The arterial occlusion results in chronic or acute pain usually in the lower limbs due to muscle ischemia.", "canonical_name": "Peripheral artery occlusive disease"} {"concept_id": "C1306893", "aliases": ["Abnormal placenta morphology", "Placental issue"], "types": ["T190"], "definition": "An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. [HPO:probinson]", "canonical_name": "Abnormality of the placenta"} {"concept_id": "C1313952", "aliases": [], "types": ["T184"], "canonical_name": "Periodic respiration"} {"concept_id": "C1313983", "aliases": [], "types": ["T047"], "definition": "Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.", "canonical_name": "Pink eye"} {"concept_id": "C1314665", "aliases": ["Elevated circulating alkaline phosphatase concentration", "Greatly elevated alkaline phosphatase", "Hyperphosphatasia", "Increased serum alkaline phosphatase", "Increased alkaline phosphatase", "Elevated alkaline phosphatase", "Hyperphosphatasemia", "High serum alkaline phosphatase"], "types": ["T033"], "definition": "Abnormally increased serum levels of alkaline phosphatase activity. [HPO:probinson, PMID:29083622]", "canonical_name": "Elevated ALP"} {"concept_id": "C1317785", "aliases": [], "types": ["T033"], "canonical_name": "Tooth size discrepancy"} {"concept_id": "C1318485", "aliases": ["Nodular regenerative hyperplasia of liver", "Noncirrhotic nodulation"], "types": ["T047"], "definition": "Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. [PMID:21472097]", "canonical_name": "Nodular transformation of liver"} {"concept_id": "C1318562", "aliases": ["Digital fibrous tumor of Reye", "Digital fibrous tumour of Reye", "Infantile digital fibroma", "Inclusion body fibromatosis"], "types": ["T191"], "definition": "A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions.", "canonical_name": "Infantile digital fibromatosis"} {"concept_id": "C1319016", "aliases": ["Intralobar nephrogenic rest"], "types": ["T019"], "definition": "A nephrogenic rest found within the renal lobe.", "canonical_name": "Intralobar nephrogenic rests"} {"concept_id": "C1319017", "aliases": ["Perilobar nephrogenic rest"], "types": ["T019"], "definition": "A nephrogenic rest found at the periphery of the renal lobe.", "canonical_name": "Perilobar nephrogenic rests"} {"concept_id": "C1319314", "aliases": ["Transitional renal cell carcinoma", "renal TCC", "Renal transitional cell carcinoma"], "types": ["T191"], "definition": "A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. [HPO:probinson]", "canonical_name": "Renal urothelial carcinoma"} {"concept_id": "C1319315", "aliases": [], "types": ["T191"], "definition": "The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.", "canonical_name": "Adenocarcinoma of the large intestine"} {"concept_id": "C1319853", "aliases": [], "types": ["T047"], "definition": "Asthmatic adverse reaction (e.g., BRONCHOCONSTRICTION) to conventional NSAIDS including aspirin use.", "canonical_name": "Aspirin-induced asthma"} {"concept_id": "C1320468", "aliases": [], "types": ["T190"], "definition": "Remnants of nephrogenic blastema cells in the kidney following embryonic development.", "canonical_name": "Nephrogenic rest"} {"concept_id": "C1320474", "aliases": [], "types": ["T033"], "definition": "Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. [PMID:12060874]", "canonical_name": "Nuchal rigidity"} {"concept_id": "C1320640", "aliases": [], "types": ["T047"], "definition": "Degeneration of the peripheral retina.", "canonical_name": "Peripheral retinal degeneration"} {"concept_id": "C1321133", "aliases": ["Bronchial bleeding"], "types": ["T046"], "definition": "Bleeding from the bronchial wall and/or lung parenchyma.", "canonical_name": "Bronchial hemorrhage"} {"concept_id": "C1321308", "aliases": [], "types": ["T033"], "definition": "A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point. [HPO:probinson]", "canonical_name": "Pericentral scotoma"} {"concept_id": "C1321329", "aliases": ["Slow visual tracking", "Slow saccades", "Slow saccadic eye movements"], "types": ["T033"], "definition": "An abnormally slow velocity of the saccadic eye movements. [HPO:probinson]", "canonical_name": "Slow eye movements"} {"concept_id": "C1321884", "aliases": ["Vaginal atresia", "Abnormally closed or absent vagina"], "types": ["T019"], "definition": "Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. [HPO:probinson]", "canonical_name": "Congenital absence of the vagina"} {"concept_id": "C1321898", "aliases": ["Blood in stool"], "types": ["T184"], "definition": "A finding indicating the presence of blood in stool. It is the result of gastrointestinal hemorrhage and it may be easily seen in stool or may be identified microscopically.", "canonical_name": "Bloody stool"} {"concept_id": "C1321907", "aliases": ["Parathyroid agenesis", "Parathyroid aplasia"], "types": ["T019"], "definition": "Aplasia of the parathyroid gland. [HPO:probinson]", "canonical_name": "Parathyroid absence"} {"concept_id": "C1328339", "aliases": [], "types": ["T047"], "canonical_name": "Dennie-Morgan fold"} {"concept_id": "C1328407", "aliases": ["Acetabular dysplasia"], "types": ["T190"], "definition": "A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain. [HPO:probinson, ORCID:0000-0002-6670-9157, PMID:23764788, PMID:34377520]", "canonical_name": "Dysplastic acetabulae"} {"concept_id": "C1328440", "aliases": ["Amino acid levels abnormal"], "types": ["T033"], "canonical_name": "Abnormality of amino acid metabolism", "definition": "Abnormality of an amino acid metabolic process. [HPO:probinson]"} {"concept_id": "C1328514", "aliases": ["Retinal pigmentary clumping", "Pigmentary retinal deposits"], "types": ["T033"], "canonical_name": "Retinal pigment clumping"} {"concept_id": "C1328577", "aliases": [], "types": ["T047"], "canonical_name": "Empty follicle syndrome"} {"concept_id": "C1328587", "aliases": ["Panypogammaglobulinemia", "Panhypogammaglobulinaemia"], "types": ["T033"], "canonical_name": "Panhypogammaglobulinemia", "definition": "A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. [PMID:23726535]"} {"concept_id": "C1328618", "aliases": [], "types": ["T048"], "canonical_name": "Agraphesthesia", "definition": "Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination). [HPO:probinson]"} {"concept_id": "C1328931", "aliases": [], "types": ["T047"], "canonical_name": "Multiple lentigines", "definition": "Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. [HPO:probinson]"} {"concept_id": "C1332259", "aliases": [], "types": ["T191"], "definition": "An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding.", "canonical_name": "Anal canal adenocarcinoma"} {"concept_id": "C1332262", "aliases": [], "types": ["T191"], "canonical_name": "Anal canal squamous cell carcinoma", "definition": "A squamous cell carcinoma arising from the mucosa of the anal canal."} {"concept_id": "C1332269", "aliases": [], "types": ["T191"], "canonical_name": "Anal margin basal cell carcinoma", "definition": "A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare."} {"concept_id": "C1332270", "aliases": [], "types": ["T191"], "canonical_name": "Anal margin Paget's disease", "definition": "Paget disease involving the perianal skin."} {"concept_id": "C1332356", "aliases": [], "types": ["T191"], "canonical_name": "Neoplasm of the autonomic nervous system", "definition": "Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system."} {"concept_id": "C1332852", "aliases": [], "types": ["T191"], "canonical_name": "Cardiac rhabdomyoma", "definition": "A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis."} {"concept_id": "C1332863", "aliases": [], "types": ["T191"], "canonical_name": "Cavernous hemangioma of the face", "definition": "A cavernous hemangioma arising from the face."} {"concept_id": "C1332900", "aliases": ["Hemangioblastoma, sporadic cerebellar"], "types": ["T191"], "canonical_name": "Cerebellar hemangioblastoma", "definition": "A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26)."} {"concept_id": "C1332912", "aliases": ["Clear cell carcinoma of cervix"], "types": ["T191"], "definition": "Cervical adenocarcinoma not associated with human papillomavirus infection and characterized by the presence of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES).", "canonical_name": "Cervical clear cell adenocarcinoma"} {"concept_id": "C1332965", "aliases": [], "types": ["T191"], "definition": "A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.", "canonical_name": "Congenital mesoblastic nephroma"} {"concept_id": "C1333160", "aliases": ["Lipoma of corpus callosum"], "types": ["T191"], "canonical_name": "Pericallosal lipoma", "definition": "A rare benign adipose tissue neoplasm of the corpus callosum."} {"concept_id": "C1333178", "aliases": [], "types": ["T191"], "canonical_name": "Cutaneous myxoma", "definition": "A myxoma arising from the dermis."} {"concept_id": "C1333467", "aliases": [], "types": ["T191"], "definition": "A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare.", "canonical_name": "Esophageal squamous papilloma"} {"concept_id": "C1333625", "aliases": [], "types": ["T047"], "definition": "Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation. [PMID:21880133, PMID:29254324, PMID:9191008]", "canonical_name": "Focal active colitis"} {"concept_id": "C1333944", "aliases": ["Paragangliomas, head and neck"], "types": ["T191"], "canonical_name": "Paraganglioma of head and neck", "definition": "A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas."} {"concept_id": "C1334260", "aliases": ["IM Myxoma"], "types": ["T191"], "canonical_name": "Intramuscular Myxoma", "definition": "A benign, painless soft tissue tumor that arises in a muscle, usually in a large muscle of the thigh, buttocks, shoulder, or upper arm. It is associated with point mutations of the GNAS gene. Grossly it is characterized by a gelatinous and lobulated cut surface. Morphologically it is composed of uniform spindled and stellate-shaped cells without atypia. The cells are separated by myxoid stroma. No recurrences have been reported."} {"concept_id": "C1334444", "aliases": [], "types": ["T191"], "definition": "A benign neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts.", "canonical_name": "Lung fibroma"} {"concept_id": "C1334682", "aliases": ["Teratoma of the mediastinum"], "types": ["T191"], "canonical_name": "Mediastinal teratoma", "definition": "An extragonadal germ cell tumor that arises from the mediastinum. It is characterized by the presence of somatic tissues derived from two or three of the germ layers (ectoderm, endoderm, and mesoderm)."} {"concept_id": "C1334688", "aliases": [], "types": ["T033"], "canonical_name": "Megaloblastic erythroid hyperplasia", "definition": "A laboratory test result indicating an abnormally high quantity of abnormal immature red blood cells with megaloblastic features."} {"concept_id": "C1334811", "aliases": [], "types": ["T191"], "canonical_name": "Mucinous neoplasm"} {"concept_id": "C1334828", "aliases": [], "types": ["T191"], "canonical_name": "Multiple mucosal neuromas", "definition": "Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. [PMID:16702501]"} {"concept_id": "C1334953", "aliases": ["Neuroblastic tumour"], "types": ["T191"], "canonical_name": "Neuroblastic tumor", "definition": "A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells."} {"concept_id": "C1334957", "aliases": ["Neoplasm of the neurohypophysis"], "types": ["T191"], "canonical_name": "Neoplasm of the posterior pituitary", "definition": "A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the sellar region, pituicytoma, spindle cell oncocytoma, and sellar ependymoma."} {"concept_id": "C1335141", "aliases": [], "types": ["T191"], "canonical_name": "Oropharyngeal squamous papilloma", "definition": "A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium."} {"concept_id": "C1335168", "aliases": ["Mucinous neoplasm of the ovary", "Ovarian mucinous tumour"], "types": ["T191"], "canonical_name": "Ovarian mucinous tumor", "definition": "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract."} {"concept_id": "C1335381", "aliases": [], "types": ["T191"], "canonical_name": "Pericardial mesothelioma", "definition": "A rare neoplasm of mesothelial origin that arises from the pericardium."} {"concept_id": "C1335411", "aliases": [], "types": ["T033"], "definition": "A fluid filled sac within the pineal gland. It is usually an incidental finding of no real clinical significance.", "canonical_name": "Pineal cyst"} {"concept_id": "C1335906", "aliases": [], "types": ["T191"], "definition": "A rare benign epithelial neoplasm composed of oncocytes, which are large cells with a large amount of granular eosinophilic cytoplasm containing numerous tightly-packed mitochondria. Approximately 85% to 90% occur in the parotid gland; most of the remainder occur in the submandibular gland. The peak incidence is in the seventh through ninth decades of life. In almost all cases, swelling is the only complaint of the patient.", "canonical_name": "Salivary gland oncocytoma"} {"concept_id": "C1336518", "aliases": ["Airway hemangioma"], "types": ["T191"], "definition": "A hemangioma arising from the subglottic area.", "canonical_name": "Subglottic hemangioma"} {"concept_id": "C1336532", "aliases": ["Superior vena cava obstruction"], "types": ["T046"], "definition": "Blockage of the lumen of the superior vena cava.", "canonical_name": "Obstruction of the superior vena cava"} {"concept_id": "C1336750", "aliases": [], "types": ["T191"], "definition": "A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli.", "canonical_name": "Hurthle cell thyroid adenoma"} {"concept_id": "C1336839", "aliases": [], "types": ["T191"], "definition": "A papillary renal cell carcinoma characterized by the presence of papillae covered by small cells with scant amount of cytoplasm. The cells are arranged in a single layer on the basement membrane of the papillae.", "canonical_name": "Papillary renal cell carcinoma type 1"} {"concept_id": "C1336840", "aliases": [], "types": ["T191"], "canonical_name": "Papillary renal cell carcinoma type 2", "definition": "A papillary renal cell carcinoma characterized by the presence of papillae covered by cells of a higher nuclear grade as compared to type 1 papillary renal cell carcinoma. The cells have eosinophilic cytoplasm and pseudostratified nuclei."} {"concept_id": "C1336975", "aliases": [], "types": ["T191"], "canonical_name": "Vulvar adenocarcinoma", "definition": "An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma."} {"concept_id": "C1367111", "aliases": ["Aberrant thyroid"], "types": ["T023"], "definition": "Ectopic thyroid gland which is located in the vicinity of the thyroid gland proper without any direct connection with it.", "canonical_name": "Aberrant thyroid gland"} {"concept_id": "C1367536", "aliases": [], "types": ["T191"], "definition": "A morphologic variant of fibroma arising from the nasopharynx. It is characterized by the presence of numerous dilated vascular channels.", "canonical_name": "Juvenile nasopharyngeal angiofibroma"} {"concept_id": "C1368683", "aliases": [], "types": ["T191"], "definition": "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.", "canonical_name": "Epithelial neoplasm"} {"concept_id": "C1368816", "aliases": ["Sebaceous adenoma"], "types": ["T191"], "definition": "A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells.", "canonical_name": "Sebaceous adenomas"} {"concept_id": "C1370824", "aliases": [], "types": ["T047"], "definition": "Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome.", "canonical_name": "Interstitial emphysema"} {"concept_id": "C1378703", "aliases": [], "types": ["T191"], "definition": "A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms.", "canonical_name": "Kidney cancer"} {"concept_id": "C1382398", "aliases": ["Increased capillary permeability"], "types": ["T033"], "definition": "An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes. [PMID:24467750, PMID:24808988]", "canonical_name": "Capillary leak"} {"concept_id": "C1382811", "aliases": [], "types": ["T033"], "definition": "An increased quantity of earwax. [PMID:probinson]", "canonical_name": "Excessive cerumen"} {"concept_id": "C1384514", "aliases": [], "types": ["T047"], "definition": "An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.", "canonical_name": "Primary hyperaldosteronism"} {"concept_id": "C1384582", "aliases": [], "types": ["T047"], "definition": "Testicular failure due to a condition directly affecting the testes.", "canonical_name": "Primary testicular failure"} {"concept_id": "C1384586", "aliases": [], "types": ["T061"], "definition": "Application of forceps to the fetal head to facilitate vaginal birth.", "canonical_name": "Forceps delivery"} {"concept_id": "C1384590", "aliases": [], "types": ["T191"], "canonical_name": "Hemangiomatosis"} {"concept_id": "C1384594", "aliases": ["Nephroptosis", "Floating kidney"], "types": ["T047"], "definition": "A significant descent of the kidney as the patient moves from the supine to the erect position. [HPO:probinson, PMID:18990154]", "canonical_name": "Renal ptosis"} {"concept_id": "C1384606", "aliases": [], "types": ["T033"], "definition": "Recurrent genital pain occurring during, before, or after SEXUAL INTERCOURSE in either the male or the female.", "canonical_name": "Dyspareunia"} {"concept_id": "C1384641", "aliases": ["Cervical spondylosis", "Cervical osteoarthritis"], "types": ["T047"], "definition": "The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. [HPO:probinson]", "canonical_name": "Cervical spine degeneration"} {"concept_id": "C1384666", "aliases": ["Hearing impairment", "Hypacusis", "Hearing defect"], "types": ["T047"], "definition": "Partial or complete loss of the ability to detect or understand sounds resulting from damage to the outer, middle, or inner ear structures. Causes include exposure to loud noise, ear infections, injuries to the ear, genetic, and congenital disorders.", "canonical_name": "Hearing loss"} {"concept_id": "C1384670", "aliases": ["Only one artery in umbilical cord instead of two", "Two vessel umbilical cord", "Two vessel cord", "Single umbilical artery", "2 vessel cord", "2 vessel umbilical cord"], "types": ["T019"], "definition": "Congenital abnormality where one, instead of the usual two, UMBILICAL ARTERY connects the fetus to the placenta.", "canonical_name": "Two-vessel cord"} {"concept_id": "C1385254", "aliases": [], "types": ["T019"], "canonical_name": "Agenesis of facial bones"} {"concept_id": "C1385263", "aliases": [], "types": ["T190"], "canonical_name": "Deformity of face"} {"concept_id": "C1386091", "aliases": [], "types": ["T019"], "canonical_name": "Acromicria", "definition": "Small hands and feet in proportion to the rest of the body. [HPO:probinson, PMID:22043168]"} {"concept_id": "C1387532", "aliases": ["hemolytic anemia, chronic", "Chronic hemolytic anaemia"], "types": ["T047"], "definition": "An chronic form of hemolytic anemia. [HPO:probinson]", "canonical_name": "Chronic hemolytic anemia"} {"concept_id": "C1387805", "aliases": [], "types": ["T048"], "canonical_name": "Episodic paroxysmal anxiety", "definition": "Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable. []"} {"concept_id": "C1388233", "aliases": [], "types": ["T190"], "definition": "An abnormal balloon- or sac-like dilatation in the wall of the DESCENDING THORACIC AORTA.", "canonical_name": "Descending thoracic aorta aneurysm"} {"concept_id": "C1388953", "aliases": [], "types": ["T033"], "canonical_name": "Atresia of the Eustachian tube"} {"concept_id": "C1389003", "aliases": [], "types": ["T019"], "canonical_name": "Urinary tract atresia", "definition": "Congenital absence of the normal opening of a structure of the urinary tract. [HPO:probinson]"} {"concept_id": "C1389016", "aliases": ["Atrioventricular septal defect"], "types": ["T190"], "definition": "A defect of the atrioventricular septum of the heart. [HPO:probinson, PMID:12632326]", "canonical_name": "Atrioventricular canal defect"} {"concept_id": "C1389102", "aliases": ["Degeneration of the spinal cord"], "types": ["T047"], "canonical_name": "Atrophy of the spinal cord"} {"concept_id": "C1389113", "aliases": ["Diffuse muscle atrophy", "Muscle atrophy, generalised", "Generalised amyotrophy", "Muscle atrophy, generalized", "Muscle atrophy, diffuse", "Diffuse skeletal muscle wasting", "Muscular atrophy, generalized", "Muscular atrophy, generalised", "Diffuse amyotrophy", "Generalized muscle atrophy", "Generalised muscle atrophy", "Diffuse muscle wasting", "Generalised muscle degeneration", "Generalized muscle degeneration"], "types": ["T047"], "canonical_name": "Generalized amyotrophy", "definition": "Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. [HPO:probinson]"} {"concept_id": "C1389118", "aliases": ["Peroneal atrophy"], "types": ["T047"], "definition": "Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius). [HPO:probinson]", "canonical_name": "Peroneal muscle atrophy"} {"concept_id": "C1389280", "aliases": ["Calcification of the basal ganglia", "Basal ganglia calcification", "Basal ganglion calcification"], "types": ["T046"], "definition": "The presence of calcium deposition affecting one or more structures of the basal ganglia. [HPO:probinson]", "canonical_name": "Basal ganglia calcifications"} {"concept_id": "C1389795", "aliases": [], "types": ["T019"], "canonical_name": "Bifid clitoris", "definition": "Two clitorides located side by side. [PMID:23650202]"} {"concept_id": "C1389851", "aliases": ["Underdeveloped parathyroid glands", "Small parathyroid glands"], "types": ["T019"], "canonical_name": "Parathyroid hypoplasia", "definition": "Developmental hypoplasia of the parathyroid gland. [HPO:probinson]"} {"concept_id": "C1390166", "aliases": ["Fundus haemorrhage"], "types": ["T046"], "canonical_name": "Fundus hemorrhage", "definition": "Bleeding within the fundus of the eye. []"} {"concept_id": "C1390214", "aliases": ["Internal haemorrhage", "Internal bleeding"], "types": ["T046"], "canonical_name": "Internal hemorrhage", "definition": "The presence of hemorrhage within the body. [HPO:probinson]"} {"concept_id": "C1390474", "aliases": ["Abnormal susceptibility to fractures", "Increased tendency to fractures", "Increased bone fragility", "Frequent broken bones", "Bone fragility", "Increased susceptibility to fractures"], "types": ["T033"], "canonical_name": "Increased susceptibility to fractures", "definition": "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. [HPO:sdoelken]"} {"concept_id": "C1390676", "aliases": ["Breus' mole"], "types": ["T190"], "canonical_name": "Subchorionic thrombohematoma", "definition": "A large maternal clot that separates the chorionic plate from the villous chorion. [PMID:11125254, UToronto:chum]"} {"concept_id": "C1392099", "aliases": ["Pyramidal cataract"], "types": ["T019"], "canonical_name": "Anterior pyramidal cataract", "definition": "A type of anterior polar cataract which projects as a conical opacity into the anterior chamber. [HPO:probinson]"} {"concept_id": "C1392104", "aliases": [], "types": ["T019"], "definition": "A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form. [HPO:probinson, HPO:vkumar]", "canonical_name": "Coralliform cataract"} {"concept_id": "C1392669", "aliases": [], "types": ["T047"], "canonical_name": "Mixed cirrhosis", "definition": "A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes. [HPO:probinson]"} {"concept_id": "C1392839", "aliases": ["Hypoplasia of the colon", "Underdeveloped colon"], "types": ["T033"], "canonical_name": "Hypoplastic colon", "definition": "Underdevelopment of the colon. [HPO:probinson]"} {"concept_id": "C1393669", "aliases": [], "types": ["T019"], "canonical_name": "Congenital onychodystrophy"} {"concept_id": "C1393871", "aliases": ["Congenital finger contractures"], "types": ["T019"], "canonical_name": "Congenital finger flexion contractures", "definition": "Multiple bent (flexed) finger joints that cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C1394030", "aliases": [], "types": ["T019"], "definition": "A mild form of hypospadias in which the urethra opens just under the corona glandis. [HPO:probinson]", "canonical_name": "Coronal hypospadias"} {"concept_id": "C1394494", "aliases": ["Dropped bladder"], "types": ["T047"], "definition": "Anterior vaginal wall prolapse with bulging of the bladder into the vagina. [HPO:sdoelken]", "canonical_name": "Cystocele"} {"concept_id": "C1394691", "aliases": [], "types": ["T047"], "canonical_name": "Bowel diverticula"} {"concept_id": "C1395264", "aliases": [], "types": ["T047"], "definition": "A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.", "canonical_name": "Deep dermatophytosis"} {"concept_id": "C1395674", "aliases": [], "types": ["T047"], "canonical_name": "Bowel diverticulosis", "definition": "The presence of multiple diverticula of the intestine. [HPO:probinson]"} {"concept_id": "C1395852", "aliases": ["Preaxial hand polydactyly", "Supernumerary thumb", "Extra thumb", "Preaxial polydactyly of hands", "thumb polydactyly"], "types": ["T019"], "definition": "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. [HPO:probinson]", "canonical_name": "Polydactyly affecting the thumb"} {"concept_id": "C1396126", "aliases": ["Eczema around the mouth"], "types": ["T047"], "canonical_name": "Perioral eczema", "definition": "A type of eczema that occurs in the lips and perioral area. [HPO:probinson]"} {"concept_id": "C1396243", "aliases": [], "types": ["T047"], "canonical_name": "Intolerance to protein"} {"concept_id": "C1396276", "aliases": ["Enamel opacity"], "types": ["T033"], "canonical_name": "Hypomature enamel", "definition": "Enamel with a white or brown discoloration without hypoplasia. [PMID:31468724]"} {"concept_id": "C1396481", "aliases": [], "types": ["T047"], "canonical_name": "Necrotizing encephalopathy", "definition": "A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue. [KI:phemming, PMID:23705127]"} {"concept_id": "C1396772", "aliases": ["Hypoplasia of the epiglottis"], "types": ["T019"], "definition": "Hypoplasia of the epiglottis. [HPO:probinson]", "canonical_name": "Hypoplastic epiglottis"} {"concept_id": "C1396824", "aliases": [], "types": ["T047"], "canonical_name": "Focal motor status epilepticus", "definition": "Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. [ORCID:0000-0002-1735-8178, PMID:26336950]"} {"concept_id": "C1397014", "aliases": [], "types": ["T184"], "canonical_name": "Imbalance"} {"concept_id": "C1397043", "aliases": [], "types": ["T047"], "canonical_name": "Excyclophoria", "definition": "A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other. []"} {"concept_id": "C1397139", "aliases": [], "types": ["T047"], "canonical_name": "Calcification of falx cerebri", "definition": "The presence of calcium deposition in the falx cerebri. [HPO:probinson]"} {"concept_id": "C1397290", "aliases": [], "types": ["T047"], "canonical_name": "Fibrocystic lung disease"} {"concept_id": "C1398301", "aliases": [], "types": ["T019"], "canonical_name": "Short palate"} {"concept_id": "C1398312", "aliases": ["Narrow roof of mouth", "Decreased transverse dimension of palate", "Narrow palate", "Decreased palatal width"], "types": ["T033"], "canonical_name": "Narrow palate", "definition": "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). [PMID:19125428]"} {"concept_id": "C1398325", "aliases": [], "types": ["T019"], "canonical_name": "Absent auditory canals"} {"concept_id": "C1398367", "aliases": ["Localised osteoporosis"], "types": ["T047"], "canonical_name": "Localized osteoporosis"} {"concept_id": "C1398522", "aliases": ["Bilateral cleft lip and cleft palate", "Bilateral cleft lip and palate"], "types": ["T019"], "definition": "Cleft lip and cleft palate affecting both sides of the face. [HPO:probinson]", "canonical_name": "Right and left cleft lip and palate"} {"concept_id": "C1398533", "aliases": [], "types": ["T033"], "canonical_name": "Cleft of alveolar process"} {"concept_id": "C1398718", "aliases": [], "types": ["T046"], "definition": "Accumulation of calcium salts in the pineal gland. [HPO:probinson]", "canonical_name": "Pineal gland calcification"} {"concept_id": "C1399128", "aliases": ["Growth resumption lines", "Harris lines"], "types": ["T033"], "canonical_name": "Growth arrest lines", "definition": "Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone. [ORCID:0000-0003-0169-8159]"} {"concept_id": "C1399354", "aliases": ["Hypertrophy of half of face", "Overgrowth of half of face", "Enlargement of half of face", "Hemifacial hypertrophy", "Facial hemihypertophy", "Increase in size of half of face", "Hemifacial enlargement"], "types": ["T047"], "definition": "Unilateral overgrowth of facial tissues, including muscles, bones and skin. [HPO:probinson]", "canonical_name": "Facial hemihyperplasia"} {"concept_id": "C1399819", "aliases": [], "types": ["T047"], "canonical_name": "Humoral immunodeficiency", "definition": "A general term referring to a defect in immunity resulting from impaired antibody production. []"} {"concept_id": "C1399870", "aliases": [], "types": ["T047"], "definition": "A fluid-filled VAGINA that is obstructed.", "canonical_name": "Hydrocolpos"} {"concept_id": "C1400105", "aliases": ["Nasal hypertrophy"], "types": ["T033"], "canonical_name": "Hypertrophy of nose"} {"concept_id": "C1400252", "aliases": [], "types": ["T019"], "canonical_name": "Hypoplasia of parotid gland"} {"concept_id": "C1400473", "aliases": [], "types": ["T047"], "canonical_name": "Incyclophoria", "definition": "A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C1401166", "aliases": ["Starch intolerance", "Amylose-amylopectin intolerance"], "types": ["T047"], "canonical_name": "Starch intolerance", "definition": "An inability to digest starch. [ORCID:0000-0002-6601-2165]"} {"concept_id": "C1401781", "aliases": ["Short palatine uvula", "Blunt uvula", "Hypoplastic uvula"], "types": ["T033"], "canonical_name": "Short uvula", "definition": "Decreased length of the uvula. [PMID:19125428]"} {"concept_id": "C1402983", "aliases": ["Gastric ectopia", "Abnormal stomach location", "Gastric malposition"], "types": ["T046"], "canonical_name": "Malposition of the stomach", "definition": "Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation. [HPO:probinson, PMID:16465538]"} {"concept_id": "C1403035", "aliases": [], "types": ["T191"], "definition": "The presence of subcutaneous lipoma. [HPO:probinson]", "canonical_name": "Subcutaneous lipoma"} {"concept_id": "C1403299", "aliases": ["Radiocapitellar dislocation"], "types": ["T037"], "canonical_name": "Radiohumeral dislocation"} {"concept_id": "C1403321", "aliases": [], "types": ["T037"], "canonical_name": "Ulnohumeral dislocation"} {"concept_id": "C1403329", "aliases": ["Tandem kidney", "Type E cross fused renal ectopia"], "types": ["T019"], "canonical_name": "L-shaped kidney", "definition": "A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney. [PMID:29446682]"} {"concept_id": "C1404304", "aliases": ["Molar shape of premolar", "Molar shape of bicuspid", "Molarization of bicuspid"], "types": ["T033"], "canonical_name": "Molarization of premolar", "definition": "Increased size and molar morphology of premolar tooth. [HPO:ibailleulforestier, PMID:15587104]"} {"concept_id": "C1404521", "aliases": [], "types": ["T047"], "canonical_name": "Limb-girdle myopathy"} {"concept_id": "C1405426", "aliases": [], "types": ["T047"], "canonical_name": "Bowel irritability", "definition": "Intermittent abdominal pain with diarrhea and/or constipation. [OMIM:ahamosh]"} {"concept_id": "C1405984", "aliases": ["Absent ossification/absence of radius", "Missing outer large bone of forearm"], "types": ["T019"], "canonical_name": "Absent radius", "definition": "Missing radius bone associated with congenital failure of development. [HPO:probinson]"} {"concept_id": "C1406835", "aliases": ["Toe contractures", "Contractures involving the toes", "Contractures of the toes"], "types": ["T033"], "canonical_name": "Flexion contracture of toe", "definition": "One or more bent (flexed) toe joints that cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C1406921", "aliases": [], "types": ["T019"], "canonical_name": "Thoracic dysplasia"} {"concept_id": "C1407019", "aliases": [], "types": ["T190"], "canonical_name": "Torsion of the penis", "definition": "Rotated position of the glans, with or without the penile shaft, of 30 degrees or more. [HPO:probinson, PMID:23650202]"} {"concept_id": "C1408258", "aliases": [], "types": ["T033"], "canonical_name": "Kidney damage"} {"concept_id": "C1408507", "aliases": [], "types": ["T047"], "canonical_name": "Supranuclear ophthalmoplegia", "definition": "A vertical gaze palsy with inability to direct the gaze of the eyes downwards. [HPO:probinson, PMID:20629667]"} {"concept_id": "C1408532", "aliases": ["Absent forearms", "Absent forearm"], "types": ["T033"], "canonical_name": "Absent forearm"} {"concept_id": "C1408781", "aliases": [], "types": ["T019"], "canonical_name": "Absent ocular muscles"} {"concept_id": "C1408788", "aliases": ["Absent ears"], "types": ["T033"], "canonical_name": "Absent ear"} {"concept_id": "C1408806", "aliases": ["Ear cartilage calcification", "Ossification of pinnae", "Cartilaginous ossification of pinnae", "Petrified ear"], "types": ["T046"], "canonical_name": "Calcification of the auricular cartilage", "definition": "Ossification affecting the external ear cartilage. [HPO:probinson, PMID:15523361, PMID:23259082]"} {"concept_id": "C1409412", "aliases": [], "types": ["T047"], "canonical_name": "Periostosis", "definition": "Abnormal deposition of periosteal bone. []"} {"concept_id": "C1410868", "aliases": [], "types": ["T047"], "canonical_name": "Cerebral artery calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery. []"} {"concept_id": "C1412037", "aliases": [], "types": ["T191"], "definition": "A squamous cell carcinoma arising from the perianal skin.", "canonical_name": "Anal margin squamous cell carcinoma"} {"concept_id": "C1442786", "aliases": ["Acute respiratory tract infection"], "types": ["T033"], "definition": "A history of repeated acute infections of the upper or lower respiratory tract. [DDD:tkuijpers]", "canonical_name": "Recurrent acute respiratory tract infection"} {"concept_id": "C1442837", "aliases": [], "types": ["T047"], "definition": "Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction). [PMID:20405318]", "canonical_name": "Myocardial necrosis"} {"concept_id": "C1442903", "aliases": ["Formation of new noncancerous bone on top of existing bone"], "types": ["T047"], "definition": "Benign hypertrophy that projects outward from the surface of bone, often containing a cartilaginous component.", "canonical_name": "Exostoses"} {"concept_id": "C1442978", "aliases": ["Herniated abdominal wall"], "types": ["T047"], "definition": "The presence of a hernia in the abdominal wall. [HPO:probinson]", "canonical_name": "Hernia of the abdominal wall"} {"concept_id": "C1442988", "aliases": [], "types": ["T019"], "canonical_name": "Rudimentary vagina"} {"concept_id": "C1442998", "aliases": [], "types": ["T020"], "definition": "The presence of a hernia of the vagina. [HPO:probinson]", "canonical_name": "Vaginal hernia"} {"concept_id": "C1443296", "aliases": [], "types": ["T047"], "definition": "A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye. [ORCID:0000-0003-0986-4123, PMID:24113300]", "canonical_name": "Axial myopia"} {"concept_id": "C1443381", "aliases": ["ROP stage 1"], "types": ["T047"], "definition": "An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of a faint demarcation line.", "canonical_name": "Retinopathy of prematurity stage 1"} {"concept_id": "C1443382", "aliases": ["Retinopathy of prematurity stage 2"], "types": ["T047"], "definition": "An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of an elevated ridge.", "canonical_name": "ROP stage 2"} {"concept_id": "C1443383", "aliases": ["Retinopathy of prematurity stage 3"], "types": ["T047"], "definition": "An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of extraretinal fibrovascular tissue.", "canonical_name": "ROP stage 3"} {"concept_id": "C1443384", "aliases": ["ROP stage 4"], "types": ["T047"], "definition": "An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of subtotal retinal detachment.", "canonical_name": "Retinopathy of prematurity stage 4"} {"concept_id": "C1443385", "aliases": ["Retinopathy of prematurity stage 5"], "types": ["T047"], "definition": "An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of total retinal detachment.", "canonical_name": "ROP stage 5"} {"concept_id": "C1444215", "aliases": [], "types": ["T020"], "canonical_name": "Bladder hernia"} {"concept_id": "C1444631", "aliases": [], "types": ["T046"], "definition": "Mechanical limitation of the range of movement of the medial rectus muscle. [ORCID:0000-0003-0986-4123]", "canonical_name": "Medial rectus muscle restriction"} {"concept_id": "C1444632", "aliases": [], "types": ["T047"], "definition": "Mechanical limitation of the range of movement of the inferior rectus muscle. [ORCID:0000-0003-0986-4123]", "canonical_name": "Inferior rectus muscle restriction"} {"concept_id": "C1444748", "aliases": [], "types": ["T080"], "definition": "Something that sets into motion some course of events; a device that activates or releases or causes something to happen.", "canonical_name": "Triggered by"} {"concept_id": "C1444775", "aliases": [], "types": ["T033"], "definition": "Applied to pain that is described as sharp, i.e., sudden and severe. []", "canonical_name": "Sharp"} {"concept_id": "C1445953", "aliases": [], "types": ["T033"], "definition": "Difficulty in looking at another person in the eye. [HPO:probinson]", "canonical_name": "Poor eye contact"} {"concept_id": "C1446712", "aliases": [], "types": ["T033"], "canonical_name": "Overlapping fingers", "definition": "A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. [HPO:probinson, PMID:19125433]"} {"concept_id": "C1449631", "aliases": [], "types": ["T047"], "definition": "Reduced motility of the gallbladder with reduced emptying fraction. [HPO:probinson, PMID:12095476, PMID:17761125]", "canonical_name": "Gallbladder dyskinesia"} {"concept_id": "C1450010", "aliases": ["Positional plagiocephaly"], "types": ["T190"], "definition": "A deformity of the SKULL that is not due to bone fusion (SYNOSTOSIS), such as craniosynostoses, and is characterized by an asymmetric skull and face. It is observed with an increased frequency in INFANTS after the adoption of supine sleeping recommendations to prevent SUDDEN INFANT DEATH SYNDROME.", "canonical_name": "Deformational plagiocephaly"} {"concept_id": "C1455734", "aliases": ["Congenital hypoparathyroidism"], "types": ["T019"], "definition": "Deficiency of parathyroid hormone with congenital onset. [DDD:spark, HPO:probinson]", "canonical_name": "Neonatal hypoparathyroidism"} {"concept_id": "C1455761", "aliases": ["Now and then"], "types": ["T079"], "definition": "Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present. []", "canonical_name": "Episodic"} {"concept_id": "C1456333", "aliases": [], "types": ["T047"], "definition": "An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum. [HPO:probinson, PMID:10869000]", "canonical_name": "Megarectum"} {"concept_id": "C1456401", "aliases": [], "types": ["T047"], "canonical_name": "Vaginal hematocele"} {"concept_id": "C1456784", "aliases": [], "types": ["T048"], "definition": "Chronic mental disorders in which there has been an insidious development of a permanent and unshakeable delusional system (persecutory delusions or delusions of jealousy), accompanied by preservation of clear and orderly thinking. Emotional responses and behavior are consistent with the delusional state.", "canonical_name": "Paranoia"} {"concept_id": "C1456852", "aliases": [], "types": ["T033"], "definition": "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. [DDD:hfirth]", "canonical_name": "Ventouse delivery"} {"concept_id": "C1458140", "aliases": ["Abnormal bleeding", "Bleeding diathesis", "Bleeding tendency"], "types": ["T046"], "definition": "A coagulation disorder characterized by a tendency for excessive bleeding.", "canonical_name": "Hemorrhagic diathesis"} {"concept_id": "C1458155", "aliases": ["Tumours of the breast", "Breast tumor", "Neoplasia of the breast", "Breast tumour"], "types": ["T191"], "definition": "Tumors or cancer of the human BREAST.", "canonical_name": "Neoplasm of the breast"} {"concept_id": "C1504319", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal base excess", "definition": "Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C). [PMID:30067929]"} {"concept_id": "C1504336", "aliases": [], "types": ["T047"], "definition": "A CHOROID neovascularization characterized by serosanguineous retinal pigment epithelial detachment and leakage of serous exudate sometimes associated with aneurysmal polypoidal lesions.", "canonical_name": "Polypoidal choroidal vasculopathy"} {"concept_id": "C1504382", "aliases": ["Hypertrophy of the pulmonary artery wall"], "types": ["T047"], "canonical_name": "Pulmonary arterial medial hypertrophy", "definition": "Increase in mass of the tunica media of the arteries in the pulmonary circulation. [HPO:probinson]"} {"concept_id": "C1504404", "aliases": [], "types": ["T047"], "definition": "Neuronal loss in the hippocampal regions of CA1 and CA4 and less severely CA2 and CA3. Additional loss of hippocampal stratum radiatum, hippocampal atrophy and ASTROGLIOSIS are common. Hippocampal sclerosis is associated with intractable TEMPORAL LOBE EPILEPSY.", "canonical_name": "Hippocampal sclerosis"} {"concept_id": "C1504405", "aliases": [], "types": ["T047"], "definition": "Dysfunction of the corticospinal (pyramidal) tracts of the spinal cord. Symptoms include increased muscle tone in the lower extremities, hyperreflexia, positive Babinski, and decreased fine motor coordination.", "canonical_name": "Pyramidal tract dysfunction"} {"concept_id": "C1504436", "aliases": ["Pulmonary pneumatocoele"], "types": ["T047"], "canonical_name": "Pulmonary pneumatocele", "definition": "A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung. [PMID:18195376]"} {"concept_id": "C1504438", "aliases": ["Cerebral artery stenosis"], "types": ["T047"], "definition": "Narrowing or constriction of the inner surface (lumen) of a cerebral artery. [ORCID:0000-0001-5208-3432]", "canonical_name": "Narrowing of a cerebral artery"} {"concept_id": "C1504506", "aliases": [], "types": ["T190"], "definition": "Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea. [PMID:29309446]", "canonical_name": "Patella alta"} {"concept_id": "C1504567", "aliases": [], "types": ["T047"], "canonical_name": "Anterior cerebral artery stenosis", "definition": "Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery. [HPO:probinson]"} {"concept_id": "C1504568", "aliases": [], "types": ["T047"], "definition": "Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery. [HPO:probinson]", "canonical_name": "Middle cerebral artery stenosis"} {"concept_id": "C1504569", "aliases": [], "types": ["T047"], "canonical_name": "Posterior cerebral artery stenosis", "definition": "Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery. [HPO:probinson]"} {"concept_id": "C1509147", "aliases": [], "types": ["T191"], "definition": "A mesenchymal tumor composed of fibroblastic and histiocytic cells.", "canonical_name": "Histiocytoma"} {"concept_id": "C1510410", "aliases": [], "types": ["T033"], "definition": "An olfactory disturbance where the sense of smell inaccurately conveys disagreeable sensations.", "canonical_name": "Parosmia"} {"concept_id": "C1510412", "aliases": [], "types": ["T046"], "definition": "Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue.", "canonical_name": "Pseudoaneurysm"} {"concept_id": "C1510416", "aliases": ["Coffee grounds vomiting", "Coffee grounds emesis"], "types": ["T184"], "definition": "Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit. [PMID:19564091]", "canonical_name": "Coffee ground vomitus"} {"concept_id": "C1510417", "aliases": [], "types": ["T047"], "definition": "Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia.", "canonical_name": "Gait apraxia"} {"concept_id": "C1510429", "aliases": [], "types": ["T047"], "definition": "Any nerve disorder caused by the entrapment and compression of a nerve.", "canonical_name": "Entrapment neuropathy"} {"concept_id": "C1510431", "aliases": [], "types": ["T047"], "definition": "Thrombosis and inflammation of a superficial vein of the extremities. Symptoms include red discoloration and warmth of the skin and pain along the affected vein.", "canonical_name": "Superficial thrombophlebitis"} {"concept_id": "C1510456", "aliases": [], "types": ["T048"], "definition": "Impairment in the comprehension of speech and meaning of words, both spoken and written, and of the meanings conveyed by their grammatical relationships in sentences. It is caused by lesions that primarily affect Wernicke's area, which lies in the posterior perisylvian region of the temporal lobe of the dominant hemisphere. (From Brain & Bannister, Clinical Neurology, 7th ed, p141; Kandel et al., Principles of Neural Science, 3d ed, p846)", "canonical_name": "Wernicke aphasia"} {"concept_id": "C1510472", "aliases": [], "types": ["T048"], "definition": "Drug dependence - replaced the term \"drug addiction\" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.", "canonical_name": "Drug addiction"} {"concept_id": "C1510497", "aliases": ["Lens opacity", "Cloudy lens", "Lens opacities"], "types": ["T033"], "canonical_name": "Clouding of the lens of the eye"} {"concept_id": "C1510586", "aliases": ["Autism spectrum disorder"], "types": ["T048"], "definition": "A spectrum of developmental disorders that includes autism, Asperger syndrome, and Rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.", "canonical_name": "Autism spectrum disorders"} {"concept_id": "C1512779", "aliases": ["Inner ear tumour", "Inner ear tumor"], "types": ["T191"], "canonical_name": "Neoplasm of the inner ear", "definition": "A rare neoplasm that affects the inner ear."} {"concept_id": "C1514428", "aliases": [], "types": ["T191"], "definition": "A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.", "canonical_name": "Primary peritoneal carcinoma"} {"concept_id": "C1515283", "aliases": ["Gonadoblastoma, male"], "types": ["T191"], "canonical_name": "Testicular gonadoblastoma", "definition": "A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells."} {"concept_id": "C1518716", "aliases": ["Gonadoblastoma, female"], "types": ["T191"], "definition": "A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.", "canonical_name": "Ovarian gonadoblastoma"} {"concept_id": "C1522135", "aliases": ["High blood magnesium levels", "High blood Mg levels"], "types": ["T033"], "definition": "Higher than normal levels of magnesium in the circulating blood.", "canonical_name": "Hypermagnesemia"} {"concept_id": "C1527284", "aliases": ["Pulp calcifications", "Pulpoliths", "Pulp denticles", "Pulp calcification"], "types": ["T047"], "definition": "Tooth-like structure formed from displaced odontogenic tissue, which may include dental papilla.", "canonical_name": "Pulp stones"} {"concept_id": "C1527311", "aliases": [], "types": ["T046"], "definition": "Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)", "canonical_name": "Brain swelling"} {"concept_id": "C1527344", "aliases": ["Inability to produce voice sounds", "Dysphonia"], "types": ["T048"], "definition": "Difficulty and/or pain in PHONATION or speaking.", "canonical_name": "Voice change"} {"concept_id": "C1527347", "aliases": [], "types": ["T033"], "canonical_name": "Difficulty speaking"} {"concept_id": "C1527366", "aliases": ["Epileptic spasms", "Salaam convulsion", "Salaam seizures", "Salaam seizure", "Epileptic spasm"], "types": ["T047"], "definition": "A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages [HPO:jalbers, PMID:28276060]", "canonical_name": "Salaam convulsions"} {"concept_id": "C1527383", "aliases": [], "types": ["T047"], "definition": "Isolated patches of hardened skin (scleroderma). [HPO:probinson]", "canonical_name": "Morphea"} {"concept_id": "C1527388", "aliases": ["Amniotic constriction band", "Congenital constriction band sequence", "Amniotic bands"], "types": ["T019"], "definition": "One or more strands of fibrous amniotic tissue that can wrap around the fetus, causting constriction resulting in anatomic malformation.", "canonical_name": "Amniotic constriction ring"} {"concept_id": "C1527405", "aliases": [], "types": ["T033"], "definition": "Abnormally high level of red blood cells in the blood.", "canonical_name": "Erythrocytosis"} {"concept_id": "C1531651", "aliases": [], "types": ["T033"], "definition": "A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract. [HPO:probinson]", "canonical_name": "Chaddock reflex"} {"concept_id": "C1531935", "aliases": [], "types": ["T191"], "definition": "A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. [ISBN-13:978-0199679980]", "canonical_name": "Lymphangioma of the orbit"} {"concept_id": "C1532837", "aliases": ["Oppenheim reflex"], "types": ["T033"], "definition": "Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe). [UKB:tklockgether]", "canonical_name": "Oppenheim sign"} {"concept_id": "C1533041", "aliases": [], "types": ["T047"], "definition": "Congenital glaucoma that arises independent of another pathologic process, disease, or injury.", "canonical_name": "Primary congenital glaucoma"} {"concept_id": "C1533217", "aliases": ["Methamphetamine dependence"], "types": ["T048"], "definition": "Addiction to methamphetamine. [ORCID:0000-0002-4095-8489, PMID:28790493]", "canonical_name": "Methamphetamine addiction"} {"concept_id": "C1533847", "aliases": [], "types": ["T047"], "canonical_name": "Skeletal myopathy"} {"concept_id": "C1534864", "aliases": [], "types": ["T033"], "definition": "Decreased number of granulocyte precursors in the bone marrow. [HPO:akelly]", "canonical_name": "Granulocytic hypoplasia"} {"concept_id": "C1535939", "aliases": ["Pneumocystis jirovecii pneumonia"], "types": ["T047"], "definition": "Pneumonia resulting from infection with Pneumocystis jirovecii, frequently seen in the immunologically compromised, such as persons with AIDS, or steroid-treated individuals, the elderly, or premature or debilitated babies during their first three months. Patients may be only slightly febrile (or even afebrile), but are likely to be extremely weak, dyspneic, and cyanotic. This is a major cause of morbidity among patients with AIDS.", "canonical_name": "Pneumocystis carinii pneumonia"} {"concept_id": "C1535950", "aliases": ["GI inflammation", "Gastrointestinal inflammation"], "types": ["T047"], "canonical_name": "Gastrointestinal inflammation", "definition": "Inflammation of the alimentary part of the gastrointestinal system. []"} {"concept_id": "C1535953", "aliases": [], "types": ["T047"], "canonical_name": "Stenosis of foramen magnum"} {"concept_id": "C1535978", "aliases": ["Increased circulating chylomicron levels", "Hyperchylomicronemia", "Increased circulating chylomicron concentration"], "types": ["T033"], "definition": "Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. [HPO:probinson, MP:0009699]", "canonical_name": "Increased chylomicrons"} {"concept_id": "C1536085", "aliases": [], "types": ["T047"], "definition": "A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates.", "canonical_name": "Geographic atrophy"} {"concept_id": "C1542178", "aliases": ["Fractured lower leg", "Fracture of the lower leg", "Lower extremity fracture"], "types": ["T037"], "definition": "A traumatic break in one or more of the bones in the hip, thigh, leg, or foot.", "canonical_name": "Lower limb fracture"} {"concept_id": "C1546180", "aliases": [], "types": ["T033"], "definition": "The age at which death occurred.", "canonical_name": "Age of death"} {"concept_id": "C1556380", "aliases": ["Obesity grade 2"], "types": ["T033"], "canonical_name": "Class II obesity", "definition": "BMI 25-29.9 kg/m2"} {"concept_id": "C1556381", "aliases": ["Class III obesity"], "types": ["T033"], "definition": "Body mass index (BMI) greater than 40.", "canonical_name": "Obesity grade 3"} {"concept_id": "C1560305", "aliases": [], "types": ["T046"], "definition": "A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. [PMID:24097136]", "canonical_name": "Prolonged QTc interval"} {"concept_id": "C1561643", "aliases": ["Chronic kidney disease"], "types": ["T047"], "definition": "Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.", "canonical_name": "Loss of renal function"} {"concept_id": "C1561989", "aliases": [], "types": ["T047"], "definition": "Loss or disturbance of limbal STEM CELL function in the CORNEAL LIMBUS resulting in inability to self-renew CORNEAL EPITHELIUM and conjunctivalized corneal surface.", "canonical_name": "Limbal stem cell deficiency"} {"concept_id": "C1562061", "aliases": [], "types": ["T019"], "definition": "Lens of the eye is smaller than normal and spherically shaped. []", "canonical_name": "Microspherophakia"} {"concept_id": "C1562363", "aliases": [], "types": ["T019"], "definition": "Four-vessel umbilical cord containing two arteries and two veins. [PMID:21391749]", "canonical_name": "Four-vessel umbilical cord"} {"concept_id": "C1562761", "aliases": [], "types": ["T047"], "definition": "A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. [HPO:probinson]", "canonical_name": "Punctate keratitis"} {"concept_id": "C1563118", "aliases": ["Eyelids stay open at night", "Inability to close the eyelids at night"], "types": ["T047"], "definition": "Sleeping with eyes open.", "canonical_name": "Nocturnal lagophthalmos"} {"concept_id": "C1563272", "aliases": [], "types": ["T046"], "definition": "Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery. [PMID:20029143]", "canonical_name": "Vitreous snowballs"} {"concept_id": "C1563716", "aliases": ["Thyroid dysgenesis"], "types": ["T019"], "definition": "A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.", "canonical_name": "Thyroid dysplasia"} {"concept_id": "C1565489", "aliases": [], "types": ["T047"], "definition": "Diminished kidney function.", "canonical_name": "Renal insufficiency"} {"concept_id": "C1567435", "aliases": ["Polycystic kidneys"], "types": ["T190"], "canonical_name": "Enlarged polycystic kidneys"} {"concept_id": "C1578482", "aliases": ["Pes valgus"], "types": ["T190"], "definition": "An outward deviation of the foot at the talocalcaneal or subtalar joint. []", "canonical_name": "Valgus foot deformity"} {"concept_id": "C1608410", "aliases": [], "types": ["T184"], "canonical_name": "Head titubation", "definition": "A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. [HPO:probinson]"} {"concept_id": "C1609433", "aliases": [], "types": ["T047"], "definition": "A congenital abnormality characterized by the absence of both kidneys.", "canonical_name": "Bilateral renal agenesis"} {"concept_id": "C1609481", "aliases": [], "types": ["T048"], "definition": "Pharyngeal spasms provoked by an attempt to drink. [PMID:30564365]", "canonical_name": "Hydrophobia"} {"concept_id": "C1610609", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal nail growth", "definition": "Nail whose growth pattern or speed deviates from normal. [HPO:probinson]"} {"concept_id": "C1611184", "aliases": [], "types": ["T046"], "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery. [HPO:probinson]", "canonical_name": "Coronary artery calcification"} {"concept_id": "C1611195", "aliases": [], "types": ["T019"], "canonical_name": "Congenital corneal dystrophy"} {"concept_id": "C1619700", "aliases": [], "types": ["T019"], "canonical_name": "Renal adysplasia"} {"concept_id": "C1619711", "aliases": ["GI telangiectasia", "Small, enlarged blood vessels near skin"], "types": ["T047"], "canonical_name": "Gastrointestinal telangiectasia", "definition": "Telangiectasia affecting the gastrointestinal tract. [HPO:probinson]"} {"concept_id": "C1621895", "aliases": ["Adrenal hyperplasia"], "types": ["T047"], "definition": "A congenital or acquired hyperplasia of the cells of the adrenal cortex or medulla.", "canonical_name": "Enlarged adrenal glands"} {"concept_id": "C1621958", "aliases": ["Glioblastoma multiforme"], "types": ["T191"], "definition": "The most malignant astrocytic tumor (WHO grade 4). It is composed of poorly differentiated neoplastic astrocytes and is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation, and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. (Adapted from WHO)", "canonical_name": "Glioblastoma"} {"concept_id": "C1622439", "aliases": [], "types": ["T019"], "definition": "Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging. [DDD:gblack]", "canonical_name": "Lentiglobus"} {"concept_id": "C1622510", "aliases": [], "types": ["T191"], "definition": "A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)", "canonical_name": "Neurocytoma"} {"concept_id": "C1630645", "aliases": ["Allergy to alpha-gal"], "types": ["T046"], "definition": "Hypersensitivity in form of an adverse immune reaction against alpha-gal. []", "canonical_name": "Alpha-gal allergy"} {"concept_id": "C1654921", "aliases": ["High urine albumin levels"], "types": ["T033"], "canonical_name": "Moderate albuminuria", "definition": "The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol). [Eurenomics:fschaefer, PMID:30571025]"} {"concept_id": "C1655733", "aliases": [], "types": ["T047"], "definition": "Trapping and compression of the rotator cuff tendons during shoulder movements. [HPO:probinson]", "canonical_name": "Shoulder impingement"} {"concept_id": "C1659989", "aliases": [], "types": ["T033"], "canonical_name": "Respiratory problem"} {"concept_id": "C1660792", "aliases": ["Stiff toe", "Toe stiffness"], "types": ["T033"], "canonical_name": "Stiff toe", "definition": "A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity. []"} {"concept_id": "C1691215", "aliases": [], "types": ["T019"], "definition": "Location of the urethral opening on the inferior aspect of the penis. [HPO:curators]", "canonical_name": "Penile hypospadias"} {"concept_id": "C1695984", "aliases": [], "types": ["T033"], "canonical_name": "Esophageal food impaction", "definition": "A piece of food that has gotten stuck in the esophagus and prevents further swallowing. [PMID:21960934]"} {"concept_id": "C1696466", "aliases": ["Liver calcifications"], "types": ["T047"], "canonical_name": "Hepatic calcification", "definition": "The presence of abnormal calcium deposition in the liver. [HPO:probinson]"} {"concept_id": "C1696701", "aliases": ["Dermatillomania", "Compulsive skin picking"], "types": ["T048"], "canonical_name": "Skin-picking", "definition": "Repetitive and compulsive picking of skin which results in tissue damage. [HPO:probinson, PMID:20575652]"} {"concept_id": "C1697453", "aliases": [], "types": ["T047"], "canonical_name": "Spontaneous hematomas", "definition": "Spontaneous development of hematomas (hematoma) or bruises without significant trauma. [DDD:akelly]"} {"concept_id": "C1698196", "aliases": ["Upper limb muscle weakness", "Decreased arm strength"], "types": ["T033"], "definition": "A reduction in the strength of the upper limb muscles.", "canonical_name": "Weak arm"} {"concept_id": "C1698480", "aliases": [], "types": ["T046"], "canonical_name": "Supraventricular tachyarrhythmia"} {"concept_id": "C1704214", "aliases": [], "types": ["T047"], "definition": "An inflammatory lesion comprised of lipoid material.", "canonical_name": "Lipogranulomatosis"} {"concept_id": "C1704236", "aliases": [], "types": ["T191"], "definition": "A benign neoplasm characterized by the presence of spindle-shaped fibroblasts surrounding the hair follicle.", "canonical_name": "Perifollicular fibroma"} {"concept_id": "C1704237", "aliases": [], "types": ["T191"], "definition": "A benign tumor usually arising in the face, trunk or thighs.", "canonical_name": "Trichodiscoma"} {"concept_id": "C1704272", "aliases": ["Benign prostatic hypertrophy"], "types": ["T046"], "definition": "A disease caused by hyperplastic process of non-transformed prostatic cells.", "canonical_name": "Benign prostatic hyperplasia"} {"concept_id": "C1704276", "aliases": [], "types": ["T033"], "canonical_name": "Jerking"} {"concept_id": "C1704317", "aliases": [], "types": ["T047"], "definition": "Leukoplakic lesions related to abnormal keratin fiber formation.", "canonical_name": "leukokeratosis"} {"concept_id": "C1704335", "aliases": [], "types": ["T191"], "definition": "A slow-growing, usually solitary, dome-shaped benign sweat gland adenoma, most frequently located on the eyelid. It is characterized by a cystic proliferation of apocrine glands. Surgical excision is curative.", "canonical_name": "Apocrine hidrocystoma"} {"concept_id": "C1704356", "aliases": [], "types": ["T191"], "definition": "A common benign hyaline cartilage neoplasm arising in the intramedullary bone. It is characterized by the presence of chondrocytes, low mitotic activity, and in some cases, a nodular pattern and calcification. The small bones of the hands and feet are the most frequently affected sites.", "canonical_name": "Enchondroma"} {"concept_id": "C1704375", "aliases": [], "types": ["T047"], "definition": "A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism.", "canonical_name": "Hypophosphatemic rickets"} {"concept_id": "C1704380", "aliases": ["Renal tubular acidosis, type I"], "types": ["T047"], "definition": "The genetic defect is in the anion exchange protein gene SLC4A1 resulting in impaired excretion of hydrogen ions or renal acids in the distal renal tubules.", "canonical_name": "Distal renal tubular acidosis"} {"concept_id": "C1704431", "aliases": ["Abnormality of ion homeostasis", "Abnormal blood ion concentration", "Electrolyte disorders"], "types": ["T046"], "definition": "A metabolic disorder that is characterized by electrolyte imbalances (e.g., hyperkalemia, hypokalemia, and hypercalcemia).", "canonical_name": "Electrolyte disturbance"} {"concept_id": "C1706004", "aliases": [], "types": ["T019"], "canonical_name": "Anhidrotic ectodermal dysplasia"} {"concept_id": "C1706559", "aliases": ["Vortex keratopathy"], "types": ["T047"], "definition": "Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea. [HPO:probinson]", "canonical_name": "Cornea verticillata"} {"concept_id": "C1707298", "aliases": [], "types": ["T191"], "canonical_name": "Cardiac hemangioma", "definition": "A hemangioma arising from the heart."} {"concept_id": "C1708350", "aliases": [], "types": ["T191"], "definition": "An autosomal dominant inherited syndrome caused by germline mutations in the FH gene. It is characterized by predisposition to renal cell carcinoma, leiomyomas of the skin and uterus, and leiomyosarcoma of the uterus.", "canonical_name": "Multiple cutaneous leiomyomas"} {"concept_id": "C1708371", "aliases": ["Isolated cardiac lipidosis", "Foamy myocardial transformation", "Myocardial or conduction system hamartoma", "Infantile cardiomyopathy with histiocytoid changes", "Focal lipid cardiomyopathy", "Arachnocytosis of the myocardium", "Oncocytic cardiomyopathy", "Histiocytoid cardiomyopathy"], "types": ["T047"], "definition": "A hamartomatous lesion of the sinoatrial node, atrioventricular node, and Purkinje fibers of the cardiac conducting system. It occurs predominantly in the first two years of life. Most patients present with arrhythmias and electrical disturbances. It is characterized by the presence of multifocal, poorly defined islands of large polygonal cells with a granular eosinophilic cytoplasm, a small round to oval-shaped nucleus, and occasional nucleoli. The cytoplasmic appearance is due to extensive accumulation of mitochondria. If left untreated, this condition is usually fatal. However, the outcome has improved over the past two decades due to developments in surgical intervention, electrophysiological mapping, and ablation of the arrhythmogenic foci, with a survival rate of approximately 80%. (WHO 2015)", "canonical_name": "Infantile xanthomatous cardiomyopathy"} {"concept_id": "C1708511", "aliases": ["Mode of inheritance"], "types": ["T045"], "definition": "The manner in which a particular genetic trait or disorder is passed from one generation to the next.", "canonical_name": "Inheritance"} {"concept_id": "C1708604", "aliases": ["Keratocysts of the jaw", "Keratocystic odontogenic tumor", "Odontogenic keratocysts of the jaw"], "types": ["T191"], "definition": "A developmental cyst that arises from remnants of the dental lamina. It is characterized by a thin, regular lining of parakeratinized stratified squamous epithelium with palisading hyperchromatic basal cells. It occurs most frequently in the mandible. Most lesions present as painless radiolucencies and are found incidentally during radiographical examination for other reasons. Treatment is most often by enucleation, or by surgical resection for large lesions. Recurrences were more frequent in the past but are dramatically reduced with meticulous treatment. (WHO 2017)", "canonical_name": "Keratocystic odontogenic tumour"} {"concept_id": "C1709527", "aliases": ["Philadelphia-positive acute lymphoblastic leukemia", "Ph-positive acute lymphoblastic leukemia", "Philadelphia-positive acute lymphoblastic leukaemia"], "types": ["T191"], "definition": "A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome.", "canonical_name": "Ph-positive acute lymphoblastic leukaemia"} {"concept_id": "C1709576", "aliases": [], "types": ["T033"], "definition": "A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). []", "canonical_name": "Pleural mass"} {"concept_id": "C1719796", "aliases": [], "types": ["T047"], "definition": "Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest). [ORCID:0000-0003-0986-4123]", "canonical_name": "With the rule astigmatism"} {"concept_id": "C1719838", "aliases": [], "types": ["T046"], "definition": "Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. [PMID:20920826]", "canonical_name": "Peripapillary atrophy"} {"concept_id": "C1720037", "aliases": ["Supranuclear gaze paralysis"], "types": ["T047"], "definition": "A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. [HPO:probinson]", "canonical_name": "Supranuclear gaze palsy"} {"concept_id": "C1720189", "aliases": ["Episodic ataxia", "Paroxysmal ataxia"], "types": ["T047"], "definition": "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. [HPO:probinson]", "canonical_name": "Intermittent cerebellar ataxia"} {"concept_id": "C1720245", "aliases": [], "types": ["T047"], "definition": "Astigmatism with more plus power on the horizontal meridian. []", "canonical_name": "Against the rule astigmatism"} {"concept_id": "C1720265", "aliases": [], "types": ["T047"], "definition": "Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin. [PMID:19682623]", "canonical_name": "Posterior crocodile shagreen of the cornea"} {"concept_id": "C1720491", "aliases": [], "types": ["T033"], "canonical_name": "Vitreous debris"} {"concept_id": "C1720508", "aliases": ["Abnormality of retinal pigment epithelium", "Abnormality of RPE"], "types": ["T033"], "canonical_name": "Abnormality of the retinal pigment epithelium"} {"concept_id": "C1720732", "aliases": ["Subretinal fluid"], "types": ["T033"], "definition": "Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane. []", "canonical_name": "Sub-retinal fluid"} {"concept_id": "C1720771", "aliases": ["Hydrocele testis", "Hydrocele", "Testicular hydrocele"], "types": ["T019"], "definition": "Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM.", "canonical_name": "Vaginal hydrocele"} {"concept_id": "C1721006", "aliases": ["Localized epidermolytic hyperkeratosis"], "types": ["T047"], "definition": "An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9.", "canonical_name": "Localised epidermolytic hyperkeratosis"} {"concept_id": "C1735356", "aliases": [], "types": ["T046"], "definition": "A variant of central retinal vein occlusions that involves the superior or inferior half of the retina. [PMID:22069354, UManchester:psergouniotis]", "canonical_name": "Hemiretinal vein occlusion"} {"concept_id": "C1735881", "aliases": ["Acromegalic growth", "Acral hypertrophy", "Acral enlargement"], "types": ["T047"], "canonical_name": "Acral overgrowth", "definition": "Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement. [PMID:27477558, PMID:27812777, PMID:30853479]"} {"concept_id": "C1735886", "aliases": ["Anomalous origin of left coronary artery from the pulmonary artery", "ALCAPA", "Anomalous left coronary artery from the pulmonary artery"], "types": ["T047"], "definition": "A congenital coronary vessel anomaly in which the left main CORONARY ARTERY originates from the PULMONARY ARTERY instead of from AORTA. The congenital heart defect typically results in coronary artery FISTULA; LEFT-SIDED HEART FAILURE and MITRAL VALVE INSUFFICIENCY during the first months of life.", "canonical_name": "Bland-Garland-White syndrome"} {"concept_id": "C1735901", "aliases": ["Recurrent venous thrombosis", "Recurrent deep vein blood clot"], "types": ["T046"], "definition": "Repeated episodes of the formation of a blot clot in a deep vein. [HPO:probinson]", "canonical_name": "Recurrent deep vein thrombosis"} {"concept_id": "C1735903", "aliases": [], "types": ["T046"], "canonical_name": "Chronic acidosis", "definition": "Longstanding abnormal acid accumulation or depletion of base. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C1737260", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent mycobacterium avium complex infections", "definition": "Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection. [HPO:probinson]"} {"concept_id": "C1739105", "aliases": [], "types": ["T046"], "canonical_name": "Platelet anisocytosis", "definition": "Abnormally increased variability in the size of platelets. [PMID:18065693]"} {"concept_id": "C1739395", "aliases": ["Takotsubo cardiomyopathy"], "types": ["T047"], "definition": "A transient left ventricular apical dysfunction or ballooning accompanied by electrocardiographic (ECG) T wave inversions. This abnormality is associated with high levels of CATECHOLAMINES, either administered or endogenously secreted from a tumor or during extreme stress.", "canonical_name": "Broken-heart syndrome"} {"concept_id": "C1740801", "aliases": [], "types": ["T033"], "canonical_name": "Exaggerated startle response", "definition": "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. [HPO:curators]"} {"concept_id": "C1744601", "aliases": [], "types": ["T184"], "canonical_name": "Abnormal heart rate"} {"concept_id": "C1761613", "aliases": ["Conjunctival injection", "Conjunctival hyperaemia", "Conjunctival hyperemia"], "types": ["T033"], "definition": "Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera. []", "canonical_name": "Conjunctival vascular congestion"} {"concept_id": "C1768507", "aliases": [], "types": ["T184"], "definition": "Yellowish discoloration of the nails. [DDD:cmoss]", "canonical_name": "Yellow nails"} {"concept_id": "C1806780", "aliases": ["Cerebrospinal fluid with increased protein", "Elevated cerebrospinal fluid protein", "Increased CSF protein", "Spinal fluid protein elevated", "Increased protein in csf", "Elevated csf protein", "Hyperproteinorrhachia"], "types": ["T033"], "definition": "Increased concentration of protein in the cerebrospinal fluid. [KI:phemming, PMID:29114301]", "canonical_name": "Cerebrospinal fluid protein increased"} {"concept_id": "C1820737", "aliases": ["Temperature instability"], "types": ["T033"], "canonical_name": "Temperature instability", "definition": "Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. [HPO:curators]"} {"concept_id": "C1827184", "aliases": ["Kidney degeneration on one side", "Unilateral kidney wasting"], "types": ["T047"], "canonical_name": "Unilateral renal atrophy", "definition": "A unilateral form of atrophy of the kidney. [HPO:probinson]"} {"concept_id": "C1827223", "aliases": ["Macular exudation", "Macular exudate"], "types": ["T033"], "definition": "Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. [ORCID:0000-0003-0986-4123]", "canonical_name": "Macular exudates"} {"concept_id": "C1827299", "aliases": [], "types": ["T019"], "definition": "Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain. [UToronto:bgallinger]", "canonical_name": "Partial absence of the septum pellucidum"} {"concept_id": "C1827524", "aliases": ["Wide-spaced nipples", "Widely-spaced nipples", "Wide intermamillary distance"], "types": ["T033"], "definition": "A larger than usual distance between the left and right nipple. [HPO:probinson]", "canonical_name": "Widely spaced nipples"} {"concept_id": "C1827970", "aliases": [], "types": ["T191"], "definition": "The presence of Neurofibromas in the subcutis. [HPO:sdoelken]", "canonical_name": "Subcutaneous neurofibromas"} {"concept_id": "C1828017", "aliases": ["Episodic hyperventilation", "Intermittent overbreathing"], "types": ["T033"], "definition": "Episodic hyperventilation. [HPO:probinson]", "canonical_name": "Intermittent hyperventilation"} {"concept_id": "C1828210", "aliases": [], "types": ["T047"], "definition": "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. [DDD:gblack]", "canonical_name": "Bull's eye maculopathy"} {"concept_id": "C1829460", "aliases": [], "types": ["T033"], "canonical_name": "Tongue thrusting"} {"concept_id": "C1831619", "aliases": [], "types": ["T191"], "definition": "An extremely rare, benign or malignant mesenchymal tumor arising from soft tissue or bone. It is a distinctive tumor, usually displaying the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called oncogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.", "canonical_name": "Phosphaturic mesenchymal tumor"} {"concept_id": "C1832117", "aliases": ["Hypoplastic humerus", "Humeral hypoplasia", "Humeral shortening", "Short long bone of upper arm", "Short upper arms", "Short humerus", "Short humeri"], "types": ["T019"], "canonical_name": "Short humerus", "definition": "Underdevelopment of the humerus. [HPO:probinson]"} {"concept_id": "C1832119", "aliases": ["Short fibulae", "Hypoplastic fibula", "Short calf bone", "Short fibula"], "types": ["T033"], "canonical_name": "Fibular hypoplasia", "definition": "Underdevelopment of the fibula. [HPO:probinson]"} {"concept_id": "C1832127", "aliases": ["Square face", "Square facies", "Square facial shape"], "types": ["T033"], "canonical_name": "Square face", "definition": "Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. [PMID:19125436]"} {"concept_id": "C1832130", "aliases": ["Tightly closed lips", "Pursed lips"], "types": ["T033"], "canonical_name": "Pursed lips", "definition": "An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. [HPO:probinson]"} {"concept_id": "C1832146", "aliases": ["Rarefaction of the metaphyses"], "types": ["T033"], "canonical_name": "Metaphyseal rarefaction", "definition": "Reduction in density of metaphyseal bony tissue. [HPO:probinson]"} {"concept_id": "C1832160", "aliases": ["Poor temperature regulation", "Abnormality of temperature regulation"], "types": ["T033"], "canonical_name": "Abnormality of temperature regulation", "definition": "An abnormality of temperature homeostasis. [HPO:probinson]"} {"concept_id": "C1832170", "aliases": [], "types": ["T033"], "canonical_name": "Punctate corneal epithelial erosions"} {"concept_id": "C1832276", "aliases": [], "types": ["T033"], "canonical_name": "Thenar muscle weakness"} {"concept_id": "C1832277", "aliases": [], "types": ["T033"], "canonical_name": "First dorsal interossei muscle weakness"} {"concept_id": "C1832278", "aliases": [], "types": ["T033"], "canonical_name": "First dorsal interossei muscle atrophy"} {"concept_id": "C1832279", "aliases": [], "types": ["T033"], "canonical_name": "Cold-induced hand cramps"} {"concept_id": "C1832323", "aliases": ["Faltering weight secondary to recurrent infections", "Weight faltering secondary to recurrent infections"], "types": ["T033"], "canonical_name": "Failure to thrive secondary to recurrent infections", "definition": "Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections. [https://en.wikipedia.org/wiki/Failure_to_thrive]"} {"concept_id": "C1832324", "aliases": ["Frequent opportunistic infections"], "types": ["T033"], "canonical_name": "Recurrent opportunistic infections", "definition": "Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. [HPO:probinson]"} {"concept_id": "C1832338", "aliases": [], "types": ["T033"], "canonical_name": "Axonal loss", "definition": "A reduction in the number of axons in the peripheral nervous system. [DDD:probinson]"} {"concept_id": "C1832339", "aliases": [], "types": ["T033"], "canonical_name": "Intraaxonal accumulation of curvilinear profiles"} {"concept_id": "C1832342", "aliases": [], "types": ["T190"], "canonical_name": "Talipes cavus equinovarus"} {"concept_id": "C1832348", "aliases": ["Slow rate of hair growth", "Slow speed of hair growth", "Slow-growing hair", "Slow growing hair"], "types": ["T033"], "canonical_name": "Slow-growing hair", "definition": "Hair whose growth is slower than normal. [HPO:probinson]"} {"concept_id": "C1832423", "aliases": [], "types": ["T046"], "definition": "A type of age-related cataract that primarily affects the nucleus of the lens. [HPO:probinson, PMID:15708105]", "canonical_name": "Age-related nuclear cataract"} {"concept_id": "C1832446", "aliases": ["Sparse eyebrow", "Hypotrichosis of eyebrow"], "types": ["T033"], "definition": "Decreased density/number of eyebrow hairs. [HPO:skoehler, PMID:19125427]", "canonical_name": "Sparse eyebrows"} {"concept_id": "C1832451", "aliases": ["Hyperostosis of cranial bones", "Hyperostosis of cranial vault", "Increased ossification of cranial bones"], "types": ["T033"], "canonical_name": "Cranial hyperostosis", "definition": "Excessive growth of the bones of cranium, i.e., of the skull. [HPO:probinson]"} {"concept_id": "C1832454", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic pilosebaceous units"} {"concept_id": "C1832455", "aliases": ["Underdeveloped sweat glands"], "types": ["T033"], "canonical_name": "Hypoplastic sweat glands", "definition": "Underdevelopment of the sweat glands. [HPO:curators]"} {"concept_id": "C1832597", "aliases": ["Herniated intervertebral nuclei"], "types": ["T033"], "canonical_name": "Herniation of intervertebral nuclei", "definition": "The presence of one or more herniated nucleus pulposus of intervertebral disk. [HPO:probinson]"} {"concept_id": "C1832598", "aliases": ["Narrow interpedicular space", "Narrow interpediculate distances", "Interpedicular narrowing", "Narrowing of interpediculate distances"], "types": ["T033"], "canonical_name": "Narrow vertebral interpedicular distance", "definition": "A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. [HPO:probinson]"} {"concept_id": "C1832671", "aliases": [], "types": ["T033"], "canonical_name": "Dysfunction of lateral corticospinal tracts"} {"concept_id": "C1832690", "aliases": [], "types": ["T033"], "canonical_name": "Vocal cord paresis in severe cases"} {"concept_id": "C1832702", "aliases": ["Short index fingers and second toes"], "types": ["T019"], "definition": "A congenital malformation with characteristics of shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and sometimes of the little finger. Only a few cases have been reported in the literature. Affected individuals have a triangular shaped middle phalanx of the index fingers and in severely affected cases the index finger is curved radially. Can be caused by mutations in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11.", "canonical_name": "Type A2 brachydactyly"} {"concept_id": "C1832776", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophic nerve changes"} {"concept_id": "C1832834", "aliases": ["Absent middle ear reflexes", "Absence of acoustic middle ear muscle reflexes"], "types": ["T033"], "canonical_name": "Absence of acoustic reflex", "definition": "Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli. [HPO:probinson]"} {"concept_id": "C1832983", "aliases": [], "types": ["T033"], "canonical_name": "Absent or minimally ossified vertebral bodies"} {"concept_id": "C1832988", "aliases": [], "types": ["T033"], "canonical_name": "Metaphyseal spurs", "definition": "Bony outgrowths that extend laterally from the margin of the metaphysis. [HPO:probinson]"} {"concept_id": "C1833030", "aliases": ["Nonepidermolytic palmoplantar keratoderma"], "types": ["T047"], "definition": "Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis. [PMID:7528239]", "canonical_name": "Nonepidermolytic palmoplantar hyperkeratosis"} {"concept_id": "C1833054", "aliases": [], "types": ["T033"], "definition": "Abnormally low level of cortisol in the blood.", "canonical_name": "Hypocortisolism"} {"concept_id": "C1833058", "aliases": [], "types": ["T033"], "canonical_name": "Small intestine biopsy shows villous atrophy"} {"concept_id": "C1833118", "aliases": [], "types": ["T019"], "definition": "A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. [HPO:probinson, HPO:vkumar]", "canonical_name": "Pulverulent cataract"} {"concept_id": "C1833142", "aliases": ["Contractures of the elbows", "Contracture of elbow joint"], "types": ["T190"], "canonical_name": "Contractures of elbows"} {"concept_id": "C1833144", "aliases": ["Slender long bone", "Slender, gracile long tubular bones", "Long bones slender", "Gracile long bones", "Thin gracile long bones", "Thin, gracile long bones", "Slender long bones", "Thin long bones"], "types": ["T033"], "canonical_name": "Slender long bone", "definition": "Reduced diameter of a long bone. [HPO:probinson]"} {"concept_id": "C1833145", "aliases": ["Distal shortening of ulna", "Hypoplastic distal ulna"], "types": ["T033"], "canonical_name": "Distal ulnar hypoplasia", "definition": "Underdevelopment of the distal portion of the ulna. [HPO:probinson]"} {"concept_id": "C1833148", "aliases": [], "types": ["T033"], "canonical_name": "Long thumb", "definition": "Length of the thumb is greater than normal. [PMID:7246605]"} {"concept_id": "C1833168", "aliases": ["Shovel-shaped upper front teeth", "Shovel tooth"], "types": ["T190"], "canonical_name": "Shovel-shaped maxillary central incisors", "definition": "A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces. [PMID:2212205, PMID:31468724]"} {"concept_id": "C1833172", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal delayed hypersensitivity skin test", "definition": "Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter. [HPO:probinson]"} {"concept_id": "C1833173", "aliases": [], "types": ["T033"], "canonical_name": "Absent microvilli on the surface of peripheral blood lymphocytes", "definition": "Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes. [PMID:15130947]"} {"concept_id": "C1833182", "aliases": ["Small platelets size", "Small platelets"], "types": ["T033"], "canonical_name": "Small platelet size"} {"concept_id": "C1833222", "aliases": [], "types": ["T033"], "canonical_name": "Autoamputation", "definition": "Spontaneous detachment (amputation) of an appendage from the body. [HPO:probinson]"} {"concept_id": "C1833225", "aliases": ["Dystrophic toenails", "Poor toenail formation", "Dystrophic toenail changes"], "types": ["T033"], "canonical_name": "Dystrophic toenail", "definition": "Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. [HPO:probinson]"} {"concept_id": "C1833297", "aliases": ["Frontal release reflexes"], "types": ["T033"], "canonical_name": "Frontal release signs", "definition": "Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes. [HPO:sdoelken]"} {"concept_id": "C1833323", "aliases": [], "types": ["T033"], "canonical_name": "Rickets of the lower limbs"} {"concept_id": "C1833324", "aliases": [], "types": ["T033"], "canonical_name": "Sparse bone trabeculae"} {"concept_id": "C1833325", "aliases": ["Thin cortices"], "types": ["T033"], "canonical_name": "Thin bony cortex", "definition": "Abnormal thinning of the cortical region of bones. [HPO:curators]"} {"concept_id": "C1833326", "aliases": ["Generalised bone demineralization"], "types": ["T033"], "canonical_name": "Generalized bone demineralization", "definition": "A generalized decrease in bone mineral density. [HPO:curators]"} {"concept_id": "C1833328", "aliases": ["Widened, distorted epiphyses", "Large epiphyses", "Large end part of bone"], "types": ["T033"], "canonical_name": "Enlarged epiphyses", "definition": "Increased size of epiphyses. [HPO:probinson]"} {"concept_id": "C1833329", "aliases": ["Bulging end part of bone"], "types": ["T033"], "canonical_name": "Bulging epiphyses", "definition": "A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). [HPO:probinson]"} {"concept_id": "C1833340", "aliases": ["Lambdoidal craniosynostosis", "Lambdoid suture synostosis"], "types": ["T047"], "definition": "Premature fusion of one of the lambdoid sutures.", "canonical_name": "Lambdoid suture craniosynostosis"} {"concept_id": "C1833362", "aliases": ["Sleep-wake cycle disturbance"], "types": ["T033"], "canonical_name": "Sleep-wake cycle disturbance", "definition": "Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake. []"} {"concept_id": "C1833429", "aliases": [], "types": ["T047"], "definition": "An increased concentration of 2-hydroxyglutaric acid in the urine. [HPO:probinson, PMID:20847235]", "canonical_name": "D-2-hydroxyglutaric aciduria"} {"concept_id": "C1833431", "aliases": ["Subependymal pseudocyst", "Subependymal germinolytic cyst"], "types": ["T190"], "canonical_name": "Subependymal cysts", "definition": "Cerebral periventricular cyst located on the floor of the lateral cerebral ventricle, most commonly in the caudothalamic groove, and results from regression of the germinal matrix or as a sequela of a prior subependymal hemorrhage or germinal matrix infarct."} {"concept_id": "C1833434", "aliases": [], "types": ["T033"], "canonical_name": "Multifocal cerebral white matter abnormalities"} {"concept_id": "C1833487", "aliases": [], "types": ["T047"], "canonical_name": "Severe recurrent varicella"} {"concept_id": "C1833667", "aliases": ["Increased serum bone-specific alkaline phosphatase", "Elevated alkaline phosphatase of bone origin", "Elevated ALP of bone origin"], "types": ["T033"], "canonical_name": "Elevated alkaline phosphatase of bone origin", "definition": "An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. [HPO:probinson]"} {"concept_id": "C1833683", "aliases": ["Oxalate nephrolithiasis", "Ca oxalate kidney stone", "Calcium oxalate nephrolithiasis", "Ca2+ oxalate urolithiasis", "Ca2+ oxalate nephrolithiasis", "Ca oxalate nephrolithiasis", "Calcium oxalate urolithiasis", "Ca oxalate urolithiasis"], "types": ["T047"], "definition": "Urolithiasis in which the composition of the stones is predominantly calcium oxalate.", "canonical_name": "Ca2+ oxalate kidney stone"} {"concept_id": "C1833734", "aliases": ["Carpal bone osteolysis"], "types": ["T046"], "canonical_name": "Carpal osteolysis", "definition": "Osteolysis affecting carpal bones. [HPO:probinson]"} {"concept_id": "C1833735", "aliases": ["Tarsal bone osteolysis", "Tarsal osteolysis"], "types": ["T046"], "canonical_name": "Osteolysis involving tarsal bones", "definition": "An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. [HPO:sdoelken]"} {"concept_id": "C1833739", "aliases": [], "types": ["T033"], "canonical_name": "Diaphyseal cortical sclerosis", "definition": "An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C1833746", "aliases": [], "types": ["T033"], "canonical_name": "Pretibial dimple", "definition": "A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg. [PMID:23444103]"} {"concept_id": "C1833752", "aliases": [], "types": ["T033"], "canonical_name": "Varying degree of multiple fractures"} {"concept_id": "C1833753", "aliases": [], "types": ["T033"], "canonical_name": "Biconcave flattened vertebrae"} {"concept_id": "C1833754", "aliases": ["Bowing of thighbone at birth, straightening with time"], "types": ["T033"], "canonical_name": "Femoral bowing present at birth, straightening with time", "definition": "Congenital onset bending or abnormal curvature of the femur that normalizes with age. [HPO:probinson]"} {"concept_id": "C1833762", "aliases": ["Poorly ossified calvarium", "Poorly ossified calvaria", "Undermineralized calvarium", "Soft calvaria", "Soft skullcap"], "types": ["T033"], "canonical_name": "Decreased calvarial ossification", "definition": "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). [DDD:awilkie, HPO:probinson, ORCID:0000-0001-8612-1062, PMID:31173381]"} {"concept_id": "C1833878", "aliases": [], "types": ["T033"], "canonical_name": "Lateral humeral condyle aplasia"} {"concept_id": "C1833881", "aliases": [], "types": ["T033"], "canonical_name": "Ulnar deviated club hands"} {"concept_id": "C1833882", "aliases": ["Decreased mobility 3rd-5th fingers"], "types": ["T033"], "canonical_name": "Decreased mobility 3rd-5th fingers"} {"concept_id": "C1833999", "aliases": [], "types": ["T033"], "canonical_name": "Retinal pigmentary degeneration"} {"concept_id": "C1834002", "aliases": [], "types": ["T033"], "canonical_name": "Paternal anticipation bias"} {"concept_id": "C1834015", "aliases": ["Progressive drooping of upper eyelid"], "types": ["T047"], "canonical_name": "Progressive ptosis", "definition": "A progressive form of ptosis. [HPO:probinson]"} {"concept_id": "C1834032", "aliases": ["Fused thumb bones", "Symphalangism of the distal and proximal phalanges of the thumb", "Fused thumb phalanges"], "types": ["T019"], "canonical_name": "Symphalangism of the thumb", "definition": "Congenital fusion (ankylosis) of the interphalangeal joint of the thumb. [HPO:probinson, PMID:22379556]"} {"concept_id": "C1834034", "aliases": ["Absent/small middle bone of pinky finger", "Absent/underdeveloped middle bone of pinky finger", "Absent/underdeveloped middle bone of little finger", "Absent/underdeveloped middle bone of pinkie finger", "Absent/hypoplastic middle phalanx of 5th finger"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the middle phalanx of the 5th finger", "definition": "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. [HPO:curators]"} {"concept_id": "C1834042", "aliases": ["Deficiency of facial musculature", "Underdevelopment of facial muscles", "Decreased size of facial muscles"], "types": ["T033"], "canonical_name": "Hypoplasia of facial musculature", "definition": "Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve). [HPO:probinson]"} {"concept_id": "C1834043", "aliases": ["Deformed external ear on one side"], "types": ["T033"], "canonical_name": "Unilateral external ear deformity"} {"concept_id": "C1834055", "aliases": ["Hypoplastic alar nasae", "Thin hypoplastic alae nasi", "Decreased size of nasal alae", "Small nasal alae", "Hypoplastic alae nasi", "Hypoplastic nostrils", "Hypoplastic alar cartilage", "Underdeveloped tissue around nostril", "Alar cartilage hypoplasia", "Nasal cartilage hypoplasia", "Hypoplastic nasal wings", "Hypoplastic nasal alae", "Hypoplastic nares", "Hypoplastic alae nasae", "Ala nasi, underdeveloped"], "types": ["T019"], "canonical_name": "Underdeveloped nasal alae", "definition": "Thinned, deficient, or excessively arched ala nasi. [PMID:19152422]"} {"concept_id": "C1834056", "aliases": [], "types": ["T033"], "canonical_name": "Thin anteverted nares"} {"concept_id": "C1834057", "aliases": [], "types": ["T033"], "canonical_name": "Vertebral hyperostosis", "definition": "Excessive growth of the bones of the vertebral bodies. [HPO:curators]"} {"concept_id": "C1834060", "aliases": ["Short middle bone of the little finger", "Short middle bone of the pinky finger", "Hypoplastic middle phalanx of the 5th finger", "Hypoplastic fifth finger middle phalanx", "Short middle bone of the pinkie finger", "Brachymesophalangy V (finger)", "Hypoplastic/small middle phalanx of the little finger", "Fifth finger mid-phalanx hypoplasia", "Hypoplastic/small middle phalanx of the 5th finger", "Brachymesophalangism V", "Short middle phalanx of the little finger", "5th finger middle phalangeal hypoplasia"], "types": ["T190"], "canonical_name": "Short middle phalanx of the 5th finger", "definition": "Hypoplastic/small middle phalanx of the fifth finger. [HPO:skoehler, PMID:18494372]"} {"concept_id": "C1834062", "aliases": ["Webbed 3rd-4th toes", "syndactyly of 3rd - 4th toes"], "types": ["T033"], "canonical_name": "3-4 toe syndactyly", "definition": "Syndactyly with fusion of toes three and four. [HPO:sdoelken]"} {"concept_id": "C1834069", "aliases": [], "types": ["T033"], "canonical_name": "Focal dermal aplasia/hypoplasia"} {"concept_id": "C1834118", "aliases": [], "types": ["T033"], "canonical_name": "Potato nose"} {"concept_id": "C1834124", "aliases": ["Shield chest"], "types": ["T033"], "canonical_name": "Shield chest", "definition": "A broad chest. [HPO:probinson, PMID:22368597]"} {"concept_id": "C1834129", "aliases": ["Abnormal vertebrae", "Abnormality of the vertebrae", "Vertebral anomalies"], "types": ["T190"], "definition": "An abnormality of one or more of the vertebrae. [HPO:probinson]", "canonical_name": "Abnormal vertebral morphology"} {"concept_id": "C1834167", "aliases": [], "types": ["T033"], "canonical_name": "Asymmetric overgrowth"} {"concept_id": "C1834236", "aliases": ["Spinal nerve root neurofibromas, symmetric, multiple"], "types": ["T191"], "canonical_name": "Symmetric spinal nerve root neurofibromas", "definition": "Multiple neurofibromas of the spinal nerve roots with a symmetric distribution. [HPO:probinson]"} {"concept_id": "C1834297", "aliases": ["Freckles in groin region"], "types": ["T033"], "canonical_name": "Inguinal freckling", "definition": "The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. []"} {"concept_id": "C1834320", "aliases": [], "types": ["T033"], "canonical_name": "Long nasal bridge", "definition": "Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. []"} {"concept_id": "C1834341", "aliases": ["Increased stomach size"], "types": ["T033"], "canonical_name": "Gastric hypertrophy", "definition": "Hypertrophy of the stomach. [HPO:probinson]"} {"concept_id": "C1834345", "aliases": [], "types": ["T033"], "canonical_name": "Periosteal thickening of long tubular bones", "definition": "Thickening of the periosteum of long bone. [HPO:probinson]"} {"concept_id": "C1834347", "aliases": [], "types": ["T033"], "canonical_name": "Metacarpal periosteal thickening"} {"concept_id": "C1834348", "aliases": [], "types": ["T033"], "canonical_name": "Proximal phalangeal periosteal thickening"} {"concept_id": "C1834349", "aliases": [], "types": ["T033"], "canonical_name": "Metatarsal periosteal thickening"} {"concept_id": "C1834383", "aliases": ["Thickening of the lateral border of the shoulder blade"], "types": ["T033"], "canonical_name": "Thickening of the lateral border of the scapula"} {"concept_id": "C1834384", "aliases": ["Hypoplastic glenoid fossa", "Glenoid hypoplasia"], "types": ["T033"], "canonical_name": "Glenoid fossa hypoplasia", "definition": "Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. [HPO:probinson]"} {"concept_id": "C1834386", "aliases": ["Small first rib", "Hypoplastic first rib", "Underdeveloped first rib", "Hypoplastic first ribs"], "types": ["T019"], "canonical_name": "Hypoplasia of first ribs"} {"concept_id": "C1834387", "aliases": [], "types": ["T033"], "definition": "Abnormal pigmentation of the iris. [HPO:probinson]", "canonical_name": "Abnormal iris pigmentation"} {"concept_id": "C1834392", "aliases": [], "types": ["T033"], "canonical_name": "Disproportionate prominence of the femoral medial condyle"} {"concept_id": "C1834405", "aliases": ["Atypical nail growth", "Nail dysplasia", "Dysplastic nails"], "types": ["T019"], "definition": "The presence of developmental dysplasia of the nail. [HPO:probinson]", "canonical_name": "Onychodysplasia"} {"concept_id": "C1834421", "aliases": ["Myxoid subcutaneous tumours"], "types": ["T191"], "canonical_name": "Myxoid subcutaneous tumors"} {"concept_id": "C1834424", "aliases": [], "types": ["T033"], "canonical_name": "Profuse pigmented skin lesions"} {"concept_id": "C1834433", "aliases": ["Obsessive-compulsive trait", "Obsessive-compulsive traits"], "types": ["T033"], "canonical_name": "Obsessive-compulsive trait", "definition": "The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. [HPO:curators]"} {"concept_id": "C1834536", "aliases": ["Intrinsic hand muscle weakness"], "types": ["T033"], "canonical_name": "Weakness of the intrinsic hand muscles"} {"concept_id": "C1834582", "aliases": ["Transient myeloproliferative disorder", "Transient myeloproliferative syndrome", "TMD", "Transient leukemia of Down syndrome"], "types": ["T191"], "definition": "A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.", "canonical_name": "Transient leukaemia of Down syndrome"} {"concept_id": "C1834664", "aliases": ["Breathy speech"], "types": ["T033"], "canonical_name": "Nasal, dysarthic speech"} {"concept_id": "C1834696", "aliases": ["Hyporeflexia/areflexia in lower limbs", "Hyporeflexia, lower limbs", "Hyporeflexia of the lower limbs", "Hyporeflexia in lower limbs"], "types": ["T033"], "canonical_name": "Hyporeflexia of lower limbs", "definition": "Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. [HPO:probinson]"} {"concept_id": "C1834728", "aliases": ["Malignant GU tract tumor", "Malignant genitourinary tract tumour", "Malignant GU tract tumour"], "types": ["T191"], "canonical_name": "Malignant genitourinary tract tumor", "definition": "The presence of a malignant neoplasm of the genital system. [HPO:probinson]"} {"concept_id": "C1834737", "aliases": ["Cutaneous syndactyly of feet", "Webbed skin of toes", "soft tissue syndactyly of toes"], "types": ["T019"], "canonical_name": "Cutaneous syndactyly of toes", "definition": "A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. [HPO:probinson, PMID:19125433]"} {"concept_id": "C1834930", "aliases": ["Undivided thalami", "Fused thalami"], "types": ["T033"], "canonical_name": "Fusion of the left and right thalami", "definition": "A developmental defect characterized by fusion of the left and right halves of the thalamus. [HPO:probinson]"} {"concept_id": "C1834931", "aliases": ["Renal cystic dysplasia", "Renal dysplasia, cystic"], "types": ["T019"], "canonical_name": "Cystic renal dysplasia"} {"concept_id": "C1834934", "aliases": ["Type 1 truncus arteriosus", "Persistent truncus arteriosus type I"], "types": ["T019"], "canonical_name": "Type I truncus arteriosus", "definition": "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries. [DDD:dbrown, HPO:probinson]"} {"concept_id": "C1834953", "aliases": [], "types": ["T033"], "canonical_name": "Lumbar kyphoscoliosis"} {"concept_id": "C1834954", "aliases": ["Coronal vertebral clefts", "Coronal clefts", "coronal cleft of vertebrae", "Vertebral coronal clefts"], "types": ["T033"], "canonical_name": "Coronal cleft vertebrae", "definition": "Frontal schisis (cleft or cleavage) of vertebral bodies. [HPO:probinson]"} {"concept_id": "C1834961", "aliases": ["Flattened, squared-off end part of tubular bones"], "types": ["T033"], "canonical_name": "Flattened, squared-off epiphyses of tubular bones"} {"concept_id": "C1834975", "aliases": [], "types": ["T033"], "canonical_name": "Irregular acetabular roof"} {"concept_id": "C1834980", "aliases": [], "types": ["T033"], "canonical_name": "Metaphyseal cupping of proximal phalanges", "definition": "Metaphyseal cupping affecting the proximal phalanges. [HPO:curators]"} {"concept_id": "C1834993", "aliases": [], "types": ["T033"], "canonical_name": "Prominent supraorbital arches in adult"} {"concept_id": "C1835008", "aliases": [], "types": ["T033"], "canonical_name": "Fibroblast metachromasia", "definition": "Increased cytoplasmic staining of fibroblasts with toluidine blue. [HPO:probinson, PMID:4195824]"} {"concept_id": "C1835095", "aliases": ["Prominent upper incisors", "Increased width of permanent upper central incisor", "Long maxillary central incisors", "Increased width of permanent maxillary central incisor", "Prominent, protruding upper incisors"], "types": ["T033"], "canonical_name": "Macrodontia of permanent maxillary central incisor", "definition": "Increased size of the maxillary central secondary incisor tooth. [HPO:ibailleulforestier]"} {"concept_id": "C1835101", "aliases": ["Wide tips of outermost digital bone"], "types": ["T033"], "canonical_name": "Wide tufts of distal phalanges"} {"concept_id": "C1835117", "aliases": ["Increased front to back length of eyeball", "Increased axial globe length", "Globe elongated"], "types": ["T033"], "canonical_name": "Increased axial length of the globe", "definition": "Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. [DDD:ncarter]"} {"concept_id": "C1835121", "aliases": ["Premature osteoarthritis", "Premature arthritis"], "types": ["T047"], "canonical_name": "Premature osteoarthritis"} {"concept_id": "C1835130", "aliases": ["Mitral annular calcification"], "types": ["T033"], "definition": "Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus. [HPO:probinson, PMID:23587525]", "canonical_name": "Premature calcification of mitral annulus"} {"concept_id": "C1835148", "aliases": ["Hypotrichosis of lower eyelashes", "Scanty lower eyelashes", "Thin lower eyelashes", "Sparse lower eyelashes", "Partial absence of lower eyelashes"], "types": ["T033"], "canonical_name": "Sparse lower eyelashes"} {"concept_id": "C1835157", "aliases": [], "types": ["T033"], "canonical_name": "Partial to total absence of eyelashes"} {"concept_id": "C1835194", "aliases": ["Large corpus callosum", "Abnormal size of corpus callosum"], "types": ["T033"], "canonical_name": "Thick corpus callosum", "definition": "Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. [KI:phemming, PMID:10029348]"} {"concept_id": "C1835228", "aliases": [], "types": ["T033"], "canonical_name": "Predominantly lower limb lymphedema", "definition": "Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. [HPO:probinson]"} {"concept_id": "C1835229", "aliases": [], "types": ["T033"], "canonical_name": "Onset of lymphedema around puberty"} {"concept_id": "C1835238", "aliases": ["Slow-growing nails"], "types": ["T033"], "canonical_name": "Slow-growing nails", "definition": "Nails whose growth is slower than normal. [HPO:probinson]"} {"concept_id": "C1835253", "aliases": [], "types": ["T033"], "canonical_name": "Hyperkeratosis over edematous areas"} {"concept_id": "C1835255", "aliases": ["Upturned toenail", "Ski-jump toenail"], "types": ["T033"], "canonical_name": "Upslanting toenail", "definition": "Upturned concavity of toenails. []"} {"concept_id": "C1835380", "aliases": [], "types": ["T033"], "canonical_name": "Labial pseudohypertrophy"} {"concept_id": "C1835384", "aliases": ["Loss of fat tissue in trunk", "Loss of subcutaneous truncal adipose tissue", "Loss of truncal adipose tissue"], "types": ["T033"], "canonical_name": "Loss of truncal subcutaneous adipose tissue", "definition": "Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. [HPO:probinson]"} {"concept_id": "C1835389", "aliases": ["Increased IM fat", "Increased intramuscular fat"], "types": ["T033"], "canonical_name": "Increased intramuscular fat", "definition": "An abnormal increase in the amount of intramuscular fat tissue. [HPO:curators]"} {"concept_id": "C1835390", "aliases": [], "types": ["T033"], "canonical_name": "Increased intraabdominal fat", "definition": "An abnormal increase in the amount of intraabdominal fat tissue. [HPO:curators]"} {"concept_id": "C1835442", "aliases": [], "types": ["T033"], "canonical_name": "Decreased cranial base ossification"} {"concept_id": "C1835444", "aliases": [], "types": ["T033"], "canonical_name": "Disc-like vertebral bodies"} {"concept_id": "C1835446", "aliases": ["Severe limb shortening"], "types": ["T033"], "canonical_name": "Severe limb shortening"} {"concept_id": "C1835452", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic ovary"} {"concept_id": "C1835470", "aliases": [], "types": ["T033"], "canonical_name": "Progressive sclerosis of skull base", "definition": "Progressively increasing bone density of the skull base without significant changes in bony contour. [HPO:probinson]"} {"concept_id": "C1835473", "aliases": ["Thickening of shaft or central part of long bones"], "types": ["T033"], "canonical_name": "Diaphyseal thickening"} {"concept_id": "C1835570", "aliases": ["Cervical vertebrae hypoplasia", "Underdeveloped cervical vertebrae"], "types": ["T033"], "canonical_name": "Hypoplastic cervical vertebrae"} {"concept_id": "C1835573", "aliases": ["Multiple carpal ossification centres"], "types": ["T033"], "canonical_name": "Multiple carpal ossification centers", "definition": "A delay in the process of formation and maturation of the epiphysis of one or more long bones. [HPO:probinson]"} {"concept_id": "C1835574", "aliases": ["Delayed fusion of bipartite calcanei", "Double calcaneal ossification centre", "Double calcaneal ossification center", "Delayed coalescence of calcaneal ossification centers", "Extra calcaneal ossification center", "Delayed coalescence of calcaneal ossification centres", "Delayed coalescence of bipartite calcanei", "Extra calcaneal ossification centre"], "types": ["T033"], "canonical_name": "Bipartite calcaneus", "definition": "A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. [HPO:probinson]"} {"concept_id": "C1835579", "aliases": [], "types": ["T033"], "canonical_name": "Rib exostoses", "definition": "Multiple circumscribed bony excrescences located in the ribs. [HPO:probinson]"} {"concept_id": "C1835580", "aliases": ["Postnatal onset of mild growth retardation"], "types": ["T033"], "canonical_name": "Mild postnatal growth retardation", "definition": "A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. [DDD:hfirth]"} {"concept_id": "C1835583", "aliases": ["Multiple exostoses of long tubular bones"], "types": ["T033"], "canonical_name": "Multiple long-bone exostoses", "definition": "Multiple exostoses originating in long bones. [HPO:probinson]"} {"concept_id": "C1835587", "aliases": ["Excess skin in infancy"], "types": ["T033"], "canonical_name": "Redundant skin in infancy"} {"concept_id": "C1835602", "aliases": ["Absent/underdeveloped tear glands", "Absent/underdeveloped lacrimal glands"], "types": ["T033"], "canonical_name": "Aplastic/hypoplastic lacrimal glands", "definition": "Absence or underdevelopment of the lacrimal gland. [HPO:probinson]"} {"concept_id": "C1835654", "aliases": ["Hyperkeratosis, palmoplantar, focal friction-related"], "types": ["T033"], "canonical_name": "Focal friction-related palmoplantar hyperkeratosis", "definition": "Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction. [HPO:probinson]"} {"concept_id": "C1835686", "aliases": ["Recurrent episodes of infectious dermatitis", "Recurrent cutaneous pyogenic infections", "Recurrent pyogenic skin infections", "Recurrent bacterial skin infections", "Recurrent episodes of impetigo"], "types": ["T033"], "canonical_name": "Recurrent bacterial skin infections", "definition": "Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. [HPO:probinson]"} {"concept_id": "C1835762", "aliases": ["Widely spaced upper incisors", "Gap between upper front teeth", "Diastasis of the central incisors", "Separated superior central incisors", "Wide upper central incisors", "Wide gap between upper central incisors"], "types": ["T033"], "canonical_name": "Widely-spaced maxillary central incisors", "definition": "Increased distance between the maxillary central permanent incisor tooth. [HPO:ibailleulforestier]"} {"concept_id": "C1835763", "aliases": ["Fusion of vertebral bodies"], "types": ["T033"], "canonical_name": "Vertebral body fusion"} {"concept_id": "C1835764", "aliases": ["Vertebral arch abnormalities"], "types": ["T033"], "canonical_name": "Vertebral arch anomaly", "definition": "A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra. [HPO:probinson]"} {"concept_id": "C1835796", "aliases": ["Ectopic kidney with fusion", "Crossed-fused renal ectopia"], "types": ["T019"], "canonical_name": "Crossed fused renal ectopia", "definition": "A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. [HPO:probinson]"} {"concept_id": "C1835798", "aliases": [], "types": ["T190"], "canonical_name": "Anoperineal fistula", "definition": "The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. [HPO:probinson]"} {"concept_id": "C1835801", "aliases": [], "types": ["T033"], "canonical_name": "Eversion of lateral third of lower eyelids"} {"concept_id": "C1835802", "aliases": [], "types": ["T033"], "canonical_name": "Thick eyelashes"} {"concept_id": "C1835807", "aliases": ["Prominent fingertip pads", "Persistent foetal fingertip pads", "Prominent finger pads", "Persistent fetal fingertip pads", "Persistence of fingerpads"], "types": ["T033"], "canonical_name": "Prominent fingertip pads", "definition": "A soft tissue prominence of the ventral aspects of the fingertips. The term persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.\" [HPO:probinson]"} {"concept_id": "C1835869", "aliases": ["IgD hypergammaglobulinemia", "Elevated serum IgD", "Elevated IgD", "Increased serum IgD", "Increased levels of IgD", "Increased IgD level"], "types": ["T033"], "canonical_name": "Increased circulating IgD level", "definition": "An abnormally increased level of immunoglobulin D in blood. []"} {"concept_id": "C1835875", "aliases": ["Normocytic hypoplastic anaemia"], "types": ["T047"], "canonical_name": "Normocytic hypoplastic anemia", "definition": "A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits). [HPO:probinson]"} {"concept_id": "C1835881", "aliases": [], "types": ["T033"], "canonical_name": "Fluctuating hepatomegaly", "definition": "Intermittently increased size of the liver. [HPO:probinson]"} {"concept_id": "C1835882", "aliases": [], "types": ["T033"], "canonical_name": "Fluctuating splenomegaly", "definition": "Intermittently increased size of the spleen. [HPO:probinson]"} {"concept_id": "C1835884", "aliases": ["Face with broad temples and narrow chin", "Triangular facial shape", "Triangular face", "Triangular facies"], "types": ["T033"], "canonical_name": "Triangular face", "definition": "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. [DDD:jclayton-smith, PMID:19125436]"} {"concept_id": "C1835978", "aliases": ["Age dependent penetrance"], "types": ["T033"], "canonical_name": "Age-dependent penetrance", "definition": "A situation in which phenotypic abnormalities become evident with age. [HPO:probinson]"} {"concept_id": "C1835993", "aliases": [], "types": ["T033"], "canonical_name": "Loss of ability to walk in early childhood"} {"concept_id": "C1835995", "aliases": [], "types": ["T033"], "canonical_name": "Decreased activities of mitochondrial-encoded respiratory chain complexes"} {"concept_id": "C1836003", "aliases": ["Facial paresis, bilateral", "Bilateral facial weakness"], "types": ["T033"], "canonical_name": "Facial diplegia", "definition": "Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). [HPO:probinson]"} {"concept_id": "C1836012", "aliases": ["Hyperreflexia proximally"], "types": ["T033"], "canonical_name": "Proximal hyperreflexia", "definition": "Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee). []"} {"concept_id": "C1836014", "aliases": [], "types": ["T033"], "canonical_name": "Exaggerated acoustic startle response"} {"concept_id": "C1836022", "aliases": [], "types": ["T019"], "definition": "A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft. []", "canonical_name": "Lipomyelomeningocele"} {"concept_id": "C1836038", "aliases": ["Poor head control"], "types": ["T033"], "canonical_name": "Poor head control", "definition": "Difficulty to maintain correct position of the head while standing or sitting. [HPO:probinson]"} {"concept_id": "C1836047", "aliases": ["Increased height of face", "Long face", "Increased length of face", "Vertical enlargement of face", "Vertical overgrowth of face", "Vertical elongation of face", "Elongation of face", "Vertical Facial Excess", "Vertical hyperplasia of face", "Long facies", "Vertical excess of face"], "types": ["T033"], "definition": "Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). [PMID:19125436]", "canonical_name": "Increased vertical dimension of face"} {"concept_id": "C1836057", "aliases": ["Fibre splitting", "Muscle fibre splitting", "Fiber splitting"], "types": ["T033"], "canonical_name": "Muscle fiber splitting", "definition": "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. [PMID:6123177]"} {"concept_id": "C1836142", "aliases": ["Symptoms present at birth", "Onset at birth"], "types": ["T033"], "canonical_name": "Congenital onset", "definition": "A phenotypic abnormality that is present at birth. [HPO:probinson]"} {"concept_id": "C1836149", "aliases": ["Truncal dystonia"], "types": ["T033"], "canonical_name": "Axial dystonia", "definition": "A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. [HPO:probinson]"} {"concept_id": "C1836150", "aliases": ["Abnormality of equilibrium", "Abnormality of balance", "Imbalanced walk"], "types": ["T033"], "canonical_name": "Gait imbalance"} {"concept_id": "C1836151", "aliases": [], "types": ["T033"], "canonical_name": "Frontolimbic dementia"} {"concept_id": "C1836156", "aliases": ["Muscle weakness, progressive, proximal"], "types": ["T033"], "canonical_name": "Progressive proximal muscle weakness", "definition": "Lack of strength of the proximal muscles that becomes progressively more severe. [HPO:probinson]"} {"concept_id": "C1836174", "aliases": [], "types": ["T033"], "canonical_name": "Involuntary dystonic or choreiform movements"} {"concept_id": "C1836184", "aliases": ["Short neck of thighbone", "Short femoral necks", "Hypoplastic femoral neck", "Hypoplasia of the femoral neck"], "types": ["T033"], "canonical_name": "Short femoral neck", "definition": "An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). [HPO:probinson]"} {"concept_id": "C1836186", "aliases": ["Absent calf bone", "Absent-hypoplastic fibulae", "Absent fibulae"], "types": ["T033"], "canonical_name": "Fibular aplasia", "definition": "Absence of the fibula. [HPO:probinson]"} {"concept_id": "C1836187", "aliases": ["Wide innermost wide portion of shankbone bone", "Wide innermost wide portion of shinbone bone"], "types": ["T033"], "canonical_name": "Widened proximal tibial metaphyses"} {"concept_id": "C1836189", "aliases": ["Radially deviated phalanges", "Radially deviated fingers"], "types": ["T033"], "canonical_name": "Radial deviation of finger", "definition": "Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. [HPO:probinson, PMID:19125433]"} {"concept_id": "C1836192", "aliases": ["Absent/small long bones of hand", "Hypoplastic/absent metacarpal bones", "Absent or hypoplastic metacarpals", "Metacarpal aplasia/hypoplasia", "Aplastic/hypoplastic metacarpals", "Hypoplastic metacarpals", "Aplasia/Hypoplasia involving the metacarpal bones", "Absent/underdeveloped long bones of hand"], "types": ["T033"], "definition": "Aplasia or Hypoplasia affecting the metacarpal bones. [HPO:curators]", "canonical_name": "Hypoplastic/absent metacarpals"} {"concept_id": "C1836193", "aliases": ["Fusion of wrist bones"], "types": ["T033"], "canonical_name": "Synostosis of carpal bones"} {"concept_id": "C1836195", "aliases": ["Stubby toes", "Short toes", "Short toe", "Brachydactyly of the foot", "Hypoplasia of the toe", "Hypoplastic toes", "Short foot phalanges"], "types": ["T033"], "canonical_name": "Short toe", "definition": "A toe that appears disproportionately short compared to the foot. [HPO:probinson]"} {"concept_id": "C1836212", "aliases": ["Proximal fifth finger symphalangism", "Proximal 5th finger symphalangism", "Fused innermost and middle bones of pinkie finger", "Fused innermost and middle bones of little finger", "Fused innermost and middle bones of pinky finger", "Symphalangism of the proximal and middle phalanges of the 5th finger"], "types": ["T033"], "canonical_name": "Proximal/middle symphalangism of 5th finger", "definition": "Fusion of the proximal and middle phalanges of the 5th finger. [HPO:curators]"} {"concept_id": "C1836213", "aliases": ["Absent/underdeveloped big toe", "Aplastic/hypoplastic halluces", "Absent/small big toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the hallux", "definition": "Absence or underdevelopment of the big toe. [HPO:curators]"} {"concept_id": "C1836216", "aliases": ["hallucal symphalangism", "Fused big toe bones"], "types": ["T033"], "canonical_name": "Symphalangism affecting the phalanges of the hallux"} {"concept_id": "C1836219", "aliases": ["Absent carpal ossification center", "Aplastic carpal bone", "Absent carpal bone", "Absent carpal ossification centre", "Absent carpal bones"], "types": ["T033"], "canonical_name": "Carpal bone aplasia", "definition": "Congenital absence of a carpal bone. [HPO:probinson]"} {"concept_id": "C1836264", "aliases": ["Congenital drooping of both upper eyelids", "Ptosis, congenital bilateral", "Ptosis, bilateral congenital"], "types": ["T019"], "canonical_name": "Congenital bilateral ptosis"} {"concept_id": "C1836296", "aliases": ["Lower extremity weakness", "Lower limb weakness", "Lower limb muscle weakness"], "types": ["T033"], "definition": "A reduction in the strength of the lower limb muscles.", "canonical_name": "Muscle weakness in lower limbs"} {"concept_id": "C1836308", "aliases": ["Generalised joint laxity", "Hypermobility of all joints", "Joint laxity, generalised", "Joint laxity, generalized"], "types": ["T033"], "canonical_name": "Generalized joint laxity", "definition": "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. [HPO:curators]"} {"concept_id": "C1836320", "aliases": ["Irregular proximal femoral metaphyses"], "types": ["T033"], "canonical_name": "Proximal femoral metaphyseal irregularity", "definition": "Irregularity of the normally smooth surface of the proximal metaphysis of the femur. []"} {"concept_id": "C1836392", "aliases": ["Uncoordinated eye movement", "Dysmetric eye movements", "Dysmetric eye saccades"], "types": ["T033"], "canonical_name": "Dysmetric saccades", "definition": "The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. [HPO:probinson, PMID:572501]"} {"concept_id": "C1836393", "aliases": ["Irregular visual pursuit movements", "Abnormal smooth pursuits", "Disrupted ocular pursuit movements", "Impaired smooth pursuit ocular movements"], "types": ["T033"], "canonical_name": "Abnormality of ocular smooth pursuit", "definition": "An abnormality of eye movement characterized by impaired smooth-pursuit eye movements. [HPO:probinson]"} {"concept_id": "C1836440", "aliases": ["Increased blood lactate"], "types": ["T033"], "definition": "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). [HPO:probinson, PMID:24079682]", "canonical_name": "Increased serum lactate"} {"concept_id": "C1836450", "aliases": ["Muscle weakness, lower limb, distal", "Distal muscle weakness in lower limbs"], "types": ["T033"], "canonical_name": "Distal lower limb muscle weakness", "definition": "Reduced strength of the distal musculature of the legs. [HPO:probinson]"} {"concept_id": "C1836451", "aliases": ["Lower leg amyotrophy", "Lower limb degeneration", "Muscle atrophy, lower limb, distal"], "types": ["T047"], "canonical_name": "Distal lower limb amyotrophy", "definition": "Muscular atrophy of distal leg muscles. [HPO:probinson]"} {"concept_id": "C1836479", "aliases": ["Saccadic pursuit movements", "Saccadic slow pursuit"], "types": ["T033"], "canonical_name": "Saccadic smooth pursuit", "definition": "An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. [HPO:probinson]"} {"concept_id": "C1836508", "aliases": ["Generalised tonic seizures", "Generalised tonic seizure", "Generalized tonic seizures", "Hypertonic seizures", "Generalised hypertonic seizure", "Generalized hypertonic seizure"], "types": ["T047"], "canonical_name": "Generalized tonic seizure", "definition": "A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. [HPO:jalbers, HPO:probinson, PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C1836525", "aliases": [], "types": ["T033"], "canonical_name": "White mater abnormalities in the posterior periventricular region"} {"concept_id": "C1836527", "aliases": ["Distal sensory loss to all modalities"], "types": ["T033"], "canonical_name": "Distal sensory impairment of all modalities", "definition": "Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities. []"} {"concept_id": "C1836533", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary O-linked sialopeptides", "definition": "Excretion of peptides conjugated to sialic acid in the urine. [HPO:probinson]"} {"concept_id": "C1836542", "aliases": ["Flat nasal root", "Low nasal bridge", "Low nasal root", "Depressed nasal root", "Retruded bridge of nose", "Depressed nasal bridge", "Flat, nasal bridge", "Flat nasal bridge", "Flattened nasal bridge", "Flat bridge of nose", "Depressed bridge of nose", "Retruded nasal bridge"], "types": ["T033"], "canonical_name": "Depressed nasal bridge", "definition": "Posterior positioning of the nasal root in relation to the overall facial profile for age. [PMID:19152422]"} {"concept_id": "C1836543", "aliases": ["Thick vermilion border", "Increased volume of lip vermillion", "Plump lips", "Prominent lips", "Full lips", "Thick lips"], "types": ["T033"], "definition": "Increased width of the skin of vermilion border region of upper lip. [HPO:probinson]", "canonical_name": "Increased volume of lip"} {"concept_id": "C1836550", "aliases": [], "types": ["T033"], "canonical_name": "Loss of developmental milestones"} {"concept_id": "C1836576", "aliases": ["Silver-gray hair color", "Silver-gray hair colour", "Silvery-gray hair", "Silver-gray hair"], "types": ["T033"], "canonical_name": "Silver-gray hair", "definition": "Hypopigmented hair that appears silver-gray. [HPO:probinson]"} {"concept_id": "C1836589", "aliases": ["Limited hip abduction"], "types": ["T033"], "canonical_name": "Decreased hip abduction", "definition": "Reduced ability to move the femur outward to the side. [HPO:probinson]"} {"concept_id": "C1836598", "aliases": ["Reduced penetrance"], "types": ["T033"], "canonical_name": "Incomplete penetrance", "definition": "A situation in which mutation carriers do not show clinically evident phenotypic abnormalities. [HPO:probinson]"} {"concept_id": "C1836599", "aliases": ["Large head present since birth", "Head circumference large for gestational age", "Large head present at birth", "Big cranium present at birth", "Big head present at birth", "Macrocephaly at birth", "Big head present since birth", "Congenital macrocephaly", "Congenital large cranium", "Congenital large skull", "Big cranium present since birth", "Large skull present since birth", "Congenital large head", "Large cranium present since birth", "Big skull present at birth", "Large skull present at birth", "Large cranium present at birth"], "types": ["T033"], "definition": "An abnormal enlargement of the head, including the scalp, the cranial bone, and the contents of the cranium that is present at the time of birth; representative examples include tuberous sclerosis, neurofibromatosis, and various other genetic causes.", "canonical_name": "Big skull present since birth"} {"concept_id": "C1836600", "aliases": [], "types": ["T033"], "canonical_name": "Atretic occipital cephalocele", "definition": "A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues. [HPO:probinson]"} {"concept_id": "C1836609", "aliases": ["Muscle weakness, distal, progressive", "Muscle weakness, progressive, distal"], "types": ["T033"], "canonical_name": "Progressive distal muscle weakness", "definition": "Progressively reduced strength of the distal musculature. [HPO:curators]"} {"concept_id": "C1836623", "aliases": ["Plasma cortisol low", "Hypocortisolemia", "Low blood cortisol level", "Decreased circulating cortisol level", "Decreased cortisol production", "Low to undetectable plasma cortisol"], "types": ["T033"], "definition": "Abnormally reduced concentration of cortisol in the blood. [HPO:probinson]", "canonical_name": "Glucocorticoid insufficiency"} {"concept_id": "C1836646", "aliases": ["Translucent skin"], "types": ["T033"], "canonical_name": "Dermal translucency", "definition": "An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. [HPO:probinson]"} {"concept_id": "C1836651", "aliases": ["Generalised arterial tortuosity", "Arterial tortuosity, generalised", "Arterial tortuosity, generalized", "Generalized twisted arteries", "Generalised twisted arteries"], "types": ["T033"], "canonical_name": "Generalized arterial tortuosity", "definition": "Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. [HPO:probinson]"} {"concept_id": "C1836653", "aliases": [], "types": ["T047"], "definition": "A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. [HPO:probinson]", "canonical_name": "Ascending aortic dissection"} {"concept_id": "C1836674", "aliases": ["Hypoplastic/small terminal phalanx of the little finger", "Short outermost pinkie finger bone", "Fifth digit distal phalangeal hypoplasia", "Short outermost pinky finger bone", "Short outermost little finger bone", "Short distal phalanx of the fifth finger", "Brachytelophalangism V"], "types": ["T033"], "canonical_name": "Short distal phalanx of the 5th finger", "definition": "Hypoplastic/small distal phalanx of the fifth finger. [HPO:sdoelken]"} {"concept_id": "C1836678", "aliases": ["Malformed ossicles", "Ossicular malformation"], "types": ["T033"], "canonical_name": "Abnormality of the middle ear ossicles", "definition": "An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). [HPO:probinson]"} {"concept_id": "C1836688", "aliases": ["Narrow iliac wings"], "types": ["T033"], "canonical_name": "Narrow iliac wing", "definition": "Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). [HPO:probinson]"} {"concept_id": "C1836696", "aliases": ["Increased deep tendon reflexes in the lower limbs", "Leg hyperreflexia", "Hyperreflexia in lower limbs", "Brisk lower extremity reflexes", "Hyperreflexia in the lower limbs", "Overactive lower leg reflex"], "types": ["T033"], "canonical_name": "Lower limb hyperreflexia"} {"concept_id": "C1836735", "aliases": ["Patchy loss of skin colour", "Patchy loss of skin color"], "types": ["T033"], "canonical_name": "Hypopigmented skin patches"} {"concept_id": "C1836736", "aliases": ["Pale eyelashes", "Depigmented eyelashes", "Blonde eyelashes", "White eyelashes"], "types": ["T033"], "canonical_name": "White eyelashes", "definition": "White color (lack of pigmentation) of the eyelashes. [DDD:cmoss]"} {"concept_id": "C1836737", "aliases": ["Depigmented eyebrow", "White eyebrow", "Hypopigmented eyebrow", "Pale eyebrow"], "types": ["T033"], "canonical_name": "White eyebrow", "definition": "White color (lack of pigmentation) of the eyebrow. [HPO:probinson]"} {"concept_id": "C1836742", "aliases": ["No auditory brainstem response"], "types": ["T033"], "canonical_name": "Absent brainstem auditory responses", "definition": "Lack of measurable response to stimulation of auditory evoked potentials. [HPO:probinson]"} {"concept_id": "C1836752", "aliases": ["Abnormal speech discrimination", "Poor speech discrimination"], "types": ["T033"], "canonical_name": "Abnormal speech discrimination", "definition": "A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. [HPO:curators]"} {"concept_id": "C1836767", "aliases": ["Amyotrophy involving the thigh", "Amyotrophy of the thigh musculature", "Proximal lower limb muscle atrophy", "Thigh muscle atrophy", "Wasting of thigh muscle"], "types": ["T033"], "canonical_name": "Proximal lower limb amyotrophy", "definition": "Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. [HPO:probinson]"} {"concept_id": "C1836772", "aliases": ["Decreased range of movement range in hinge joints"], "types": ["T033"], "canonical_name": "Decreased movement range in interphalangeal joints"} {"concept_id": "C1836791", "aliases": ["Twisted cerebral arteries"], "types": ["T033"], "canonical_name": "Tortuous cerebral arteries", "definition": "Excessive bending, twisting, and winding of a cerebral artery. [HPO:probinson]"} {"concept_id": "C1836806", "aliases": [], "types": ["T019"], "canonical_name": "Mild microcephaly", "definition": "Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD). []"} {"concept_id": "C1836829", "aliases": [], "types": ["T033"], "canonical_name": "Developmental stagnation at onset of seizures", "definition": "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy. [HPO:probinson]"} {"concept_id": "C1836830", "aliases": [], "types": ["T047"], "definition": "Reversion to an earlier stage of development.", "canonical_name": "Developmental regression"} {"concept_id": "C1836835", "aliases": [], "types": ["T033"], "canonical_name": "Hyporeflexia of upper limbs", "definition": "Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. [HPO:probinson]"} {"concept_id": "C1836842", "aliases": ["Psychomotor degeneration"], "types": ["T033"], "canonical_name": "Psychomotor deterioration", "definition": "Loss of previously present mental and motor abilities. [HPO:probinson]"} {"concept_id": "C1836843", "aliases": ["Progressive inability to walk"], "types": ["T033"], "canonical_name": "Loss of ambulation", "definition": "Progressive inability to walk in a person who previous had the ability to walk. []"} {"concept_id": "C1836851", "aliases": ["Fingerprint profiles ultrastructurally", "'Fingerprint profiles' ultrastructurally in cells"], "types": ["T033"], "canonical_name": "Fingerprint intracellular accumulation of autofluorescent lipopigment storage material", "definition": "An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern. [HPO:probinson]"} {"concept_id": "C1836852", "aliases": ["Curvilinear profiles ultrastructurally", "'Curvilinear profiles' ultrastructurally in cells", "Intracellular curvilinear profiles on ultrastructural analysis", "'curvilinear profiles' ultrastructurally"], "types": ["T033"], "canonical_name": "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material", "definition": "An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. [HPO:probinson]"} {"concept_id": "C1836855", "aliases": ["Vacuolated lymphocytes", "Vacuolated blood lymphocytes"], "types": ["T033"], "definition": "The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. [HPO:probinson, PMID:20633042]", "canonical_name": "Enlarged lysosomal vacuoles in lymphocytes"} {"concept_id": "C1836868", "aliases": [], "types": ["T033"], "canonical_name": "Broad ischia", "definition": "Increased width of the ischium, which forms the lower and back part of the hip bone. [HPO:probinson]"} {"concept_id": "C1836870", "aliases": ["Irregular patellar contour", "Irregular patellar margins"], "types": ["T033"], "canonical_name": "Irregular patellae", "definition": "An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour. [HPO:probinson]"} {"concept_id": "C1836872", "aliases": [], "types": ["T033"], "canonical_name": "Osteoporotic tarsals", "definition": "Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. [HPO:probinson]"} {"concept_id": "C1836873", "aliases": [], "types": ["T033"], "canonical_name": "Osteoporotic metatarsal", "definition": "Decrease in mass and density of the metatarsal bones. [HPO:probinson]"} {"concept_id": "C1836890", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplasia of the ciliary body", "definition": "Underdevelopment of the ciliary body. [HPO:probinson]"} {"concept_id": "C1836904", "aliases": [], "types": ["T033"], "canonical_name": "Spastic/hyperactive bladder"} {"concept_id": "C1836923", "aliases": ["GI dysmotility"], "types": ["T033"], "canonical_name": "Gastrointestinal dysmotility", "definition": "Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. [HPO:probinson]"} {"concept_id": "C1836926", "aliases": ["Bone corpuscle fundus pigmentation", "Retinal pigmented bone spicules", "Fundus with peripheral bony spicules", "Retinal bone corpuscle pigmentation", "Retinal 'bone corpuscle' pigmentation"], "types": ["T033"], "canonical_name": "Bone spicule pigmentation of the retina", "definition": "Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). [HPO:probinson]"} {"concept_id": "C1836933", "aliases": ["Low-set nipples"], "types": ["T033"], "canonical_name": "Low-set nipples", "definition": "Placement of the nipples at a lower than normal location. [HPO:probinson]"} {"concept_id": "C1836940", "aliases": ["Increased nuchal fold thickness", "Excess nuchal skin", "Thick nuchal fold", "Thickened skin over the neck", "Increased nuchal fold", "Thickened nuchal skin", "Thickened skin folds of neck"], "types": ["T033"], "canonical_name": "Thickened nuchal skin fold", "definition": "A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. [HPO:probinson, PMID:16100637, PMID:30431620]"} {"concept_id": "C1836996", "aliases": ["Reduced upper-lower segment ratio", "Disproportionate tall stature", "Marfanoid body habitus"], "types": ["T033"], "definition": "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. [DDD:hfirth, HPO:probinson]", "canonical_name": "Marfanoid habitus"} {"concept_id": "C1837016", "aliases": ["Unstable walking, worse in the dark"], "types": ["T033"], "canonical_name": "Gait instability, worse in the dark"} {"concept_id": "C1837066", "aliases": [], "types": ["T033"], "definition": "Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection. [HPO:probinson]", "canonical_name": "Recurrent viral infections"} {"concept_id": "C1837078", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic inferior ilia"} {"concept_id": "C1837081", "aliases": ["Bowed shinbone", "Bowing of the tibia", "Bowed tibia", "Bowed shankbone"], "types": ["T033"], "canonical_name": "Tibial bowing", "definition": "A bending or abnormal curvature of the tibia. [HPO:probinson]"} {"concept_id": "C1837082", "aliases": [], "types": ["T033"], "canonical_name": "Metaphyseal cupping", "definition": "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. [HPO:probinson]"} {"concept_id": "C1837084", "aliases": ["Metacarpal hypoplasia", "Shortened long bone of hand", "Brachymetacarpalia", "Shortened metacarpals", "Hypoplastic metacarpal", "Shortening of metacarpals", "Short metacarpal bones", "Shortened long bones of hand", "Short metacarpal"], "types": ["T190"], "definition": "Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. [PMID:19125433]", "canonical_name": "Short metacarpals"} {"concept_id": "C1837087", "aliases": [], "types": ["T033"], "canonical_name": "Macular pigmentary changes"} {"concept_id": "C1837098", "aliases": [], "types": ["T033"], "canonical_name": "Easy fatigability", "definition": "Increased susceptibility to fatigue. [HPO:probinson]"} {"concept_id": "C1837108", "aliases": ["Decreased muscle mass"], "types": ["T033"], "canonical_name": "Decreased muscle mass"} {"concept_id": "C1837142", "aliases": ["Poor sucking", "Sucking weakness", "Poor suck"], "types": ["T033"], "canonical_name": "Poor suck", "definition": "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. [HPO:pnrobinson]"} {"concept_id": "C1837246", "aliases": [], "types": ["T033"], "canonical_name": "Intracerebral periventricular calcifications", "definition": "The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles. [HPO:probinson]"} {"concept_id": "C1837247", "aliases": ["Antenatal intracerebral haemorrhage"], "types": ["T046"], "canonical_name": "Antenatal intracerebral hemorrhage", "definition": "Cerebral hemorrhage that occurs before birth. [HPO:probinson]"} {"concept_id": "C1837249", "aliases": ["Heterotopias/abnormal migration", "Migrational brain disorder", "Abnormality of neuronal migration", "Abnormal neuronal migration"], "types": ["T019"], "definition": "A diverse group of congenital brain developmental disorders characterized by defects in neuronal migration in the brain during early fetal development. The neuronal migration defects result in brain abnormalities that are usually manifested with mental retardation and epilepsy.", "canonical_name": "Neuronal migration disorder"} {"concept_id": "C1837251", "aliases": ["Cystic lesions in the basal ganglia"], "types": ["T047"], "canonical_name": "Basal ganglia cysts"} {"concept_id": "C1837256", "aliases": ["Macrovesicular steatosis"], "types": ["T033"], "canonical_name": "Macrovesicular hepatic steatosis", "definition": "A morphologic finding indicating intracytoplasmic fat accumulation in the liver parenchyma. Unlike microvesicular steatosis, the fat accumulation displaces the nucleus of the hepatocytes, creating a characteristic signet-ring appearance."} {"concept_id": "C1837257", "aliases": [], "types": ["T033"], "canonical_name": "Lipid accumulation in hepatocytes"} {"concept_id": "C1837260", "aliases": ["Prominent forehead", "Protruding forehead", "Prominence of frontal region", "Pronounced forehead"], "types": ["T033"], "canonical_name": "Prominent forehead", "definition": "Forward prominence of the entire forehead, due to protrusion of the frontal bone. [PMID:19125436]"} {"concept_id": "C1837262", "aliases": ["Fat deposits in muscle fibers", "Increased muscle lipid content", "Fat deposits in muscle fibres", "Fat accumulation in muscle fibers", "Lipid accumulation in skeletal muscle", "Skeletal muscle lipid accumulation", "Muscle lipidosis", "Fat accumulation in muscle fibres"], "types": ["T033"], "canonical_name": "Increased muscle lipid content", "definition": "An abnormal accumulation of lipids in skeletal muscle. [HPO:probinson, PMID:20691590]"} {"concept_id": "C1837273", "aliases": [], "types": ["T047"], "canonical_name": "Long-chain dicarboxylic aciduria", "definition": "An increase in the level of long-chain dicarboxylic acid in the urine. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C1837279", "aliases": ["Underdeveloped toenails"], "types": ["T033"], "canonical_name": "Hypoplastic toenails", "definition": "Underdevelopment of the toenail. [HPO:probinson]"} {"concept_id": "C1837323", "aliases": ["Hyporeflexia at ankle joints"], "types": ["T033"], "canonical_name": "Decreased Achilles reflex", "definition": "Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. [HPO:probinson]"} {"concept_id": "C1837352", "aliases": ["Symptoms begin in childhood"], "types": ["T033"], "canonical_name": "Childhood onset", "definition": "Onset of disease at the age of between 1 and 5 years. [DDD:hfirth]"} {"concept_id": "C1837379", "aliases": [], "types": ["T033"], "canonical_name": "Partial development of the penile shaft"} {"concept_id": "C1837380", "aliases": [], "types": ["T033"], "canonical_name": "Dysplastic testes"} {"concept_id": "C1837385", "aliases": [], "types": ["T033"], "canonical_name": "Poor growth"} {"concept_id": "C1837388", "aliases": ["Abnormal respiratory patterns", "Unusual breathing patterns", "Abnormal pattern of respiration"], "types": ["T033"], "canonical_name": "Abnormal pattern of respiration", "definition": "An anomaly of the rhythm or depth of breathing. [HPO:probinson]"} {"concept_id": "C1837397", "aliases": ["Global developmental delay, severe"], "types": ["T033"], "canonical_name": "Severe global developmental delay", "definition": "A severe delay in the achievement of motor or mental milestones in the domains of development of a child. [DDD:hvfirth]"} {"concept_id": "C1837402", "aliases": ["Posterior flattening of the skull", "Flat posterior cranium"], "types": ["T033"], "canonical_name": "Flat occiput", "definition": "Reduced convexity of the occiput (posterior part of skull). [PMID:19125436]"} {"concept_id": "C1837404", "aliases": ["Gothic palate", "High narrow palate", "Narrow and high arched palate", "High vaulted palate", "Narrow, highly arched palate", "Narrow, highly arched roof of mouth", "High, narrow palate", "Narrow, high-arched roof of mouth"], "types": ["T033"], "definition": "The presence of a high and narrow palate. [HPO:curators]", "canonical_name": "Narrow, high-arched palate"} {"concept_id": "C1837406", "aliases": ["Upper limb undergrowth", "Short arms", "Shortening of the arms"], "types": ["T033"], "definition": "Arm shortening because of underdevelopment of one or more bones of the upper extremity. [HPO:probinson]", "canonical_name": "Hypoplasia involving bones of the upper limbs"} {"concept_id": "C1837407", "aliases": ["Contractures of the ankles", "Ankle contractures", "Ankle contracture"], "types": ["T190"], "canonical_name": "Ankle flexion contracture", "definition": "A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle. [HPO:probinson]"} {"concept_id": "C1837458", "aliases": ["Abnormality of visual tracking", "Impairment of visual pursuit"], "types": ["T033"], "canonical_name": "Impaired smooth pursuit", "definition": "An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. [HPO:probinson]"} {"concept_id": "C1837463", "aliases": ["Thin facies", "Decreased horizontal dimension of face", "Narrow facies", "Narrow face", "Transverse hypoplasia of face", "Horizontal insufficiency of face", "Horizontal deficiency of face", "Decreased breadth of face", "Decreased transverse dimension of face", "Transverse insufficiency of face", "Transverse deficiency of face", "Horizontal hypoplasia of face"], "types": ["T033"], "definition": "Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). [PMID:19125436]", "canonical_name": "Decreased width of face"} {"concept_id": "C1837467", "aliases": ["Excessive skin wrinkling on back of hands and fingers"], "types": ["T033"], "canonical_name": "Excessive skin wrinkling on dorsum of hands and fingers"} {"concept_id": "C1837482", "aliases": ["Small thorax", "Thoracic hypoplasia"], "types": ["T019"], "canonical_name": "Small chest"} {"concept_id": "C1837483", "aliases": ["Anterior and posterior rib cupping"], "types": ["T033"], "canonical_name": "Posterior rib cupping", "definition": "Wide, concave posterior rib end. [HPO:probinson]"} {"concept_id": "C1837485", "aliases": ["Flat acetabular roofs", "Horizontal acetabular roofs", "Flattened acetabular roof", "Horizontal acetabulae", "Horizontal acetabular roof"], "types": ["T033"], "canonical_name": "Flat acetabular roof", "definition": "Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. [HPO:probinson]"} {"concept_id": "C1837487", "aliases": ["Dysplastic iliac wings"], "types": ["T019"], "canonical_name": "Dysplastic iliac wing", "definition": "A general term that describes a congenital defect in the iliac wing resulting from abnormal development. []"} {"concept_id": "C1837496", "aliases": [], "types": ["T033"], "canonical_name": "Axonal degeneration"} {"concept_id": "C1837503", "aliases": ["Decreased volume of cerebral cortex"], "types": ["T033"], "canonical_name": "Small cerebral cortex", "definition": "Reduced size of the cerebral cortex. [HPO:probinson]"} {"concept_id": "C1837510", "aliases": ["Atrophy of facial adipose tissue", "Loss of subcutaneous adipose tissue from face, progressive", "Progressive loss of facial subcutaneous adipose tissue", "Facial fat wasting", "Progressive loss of subcutaneous adipose tissue from face", "Facial fat atrophy", "Progressive loss of facial fat"], "types": ["T033"], "canonical_name": "Progressive loss of facial adipose tissue"} {"concept_id": "C1837512", "aliases": ["Decreased serum complement C3 level", "Decreased serum C3"], "types": ["T033"], "canonical_name": "Decreased serum complement C3", "definition": "A reduced level of the complement component C3 in circulation. [https://emedicine.medscape.com/article/135478-overview]"} {"concept_id": "C1837514", "aliases": ["Clinical heterogeneity", "Variable phenotype", "Variable phenotypic severity"], "types": ["T033"], "definition": "A variability of phenotypic features. [HPO:probinson]", "canonical_name": "Phenotypic variability"} {"concept_id": "C1837520", "aliases": ["Apallesthesia"], "types": ["T033"], "canonical_name": "Abolished vibration sense", "definition": "A complete loss of the ability to perceive vibration. [HPO:curators]"} {"concept_id": "C1837522", "aliases": ["Decreased pain sensation", "Decreased pinprick sensation", "Impaired pain sensation"], "types": ["T033"], "canonical_name": "Impaired pain sensation", "definition": "Reduced ability to perceive painful stimuli. [HPO:probinson]"} {"concept_id": "C1837532", "aliases": ["Fused inner lips"], "types": ["T033"], "canonical_name": "Fused labia minora", "definition": "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. [HPO:curators]"} {"concept_id": "C1837602", "aliases": ["Painless fractures due to injury"], "types": ["T033"], "canonical_name": "Painless fractures due to injury", "definition": "An increased tendency to fractures following trauma, with fractures occurring without pain. [HPO:curators]"} {"concept_id": "C1837639", "aliases": ["Intermittent abnormally low body temperature", "Intermittent hypothermia"], "types": ["T033"], "canonical_name": "Intermittent hypothermia", "definition": "Episodes of reduced body termperature. [HPO:probinson]"} {"concept_id": "C1837649", "aliases": [], "types": ["T048"], "canonical_name": "Impaired ability to form peer relationships"} {"concept_id": "C1837650", "aliases": ["Lack of spontaneous play"], "types": ["T033"], "canonical_name": "Lack of spontaneous play"} {"concept_id": "C1837653", "aliases": [], "types": ["T033"], "canonical_name": "Inflexible adherence to routines or rituals"} {"concept_id": "C1837658", "aliases": ["Gross motor delay", "Delayed motor skills", "Developmental delay, gross motor", "Delayed gross motor development", "Delayed gross motor skills"], "types": ["T047"], "definition": "Abnormally late development of the coordination of the muscles, bones, and/or nerves that produces whole body and large muscle group movements.", "canonical_name": "Limited gross motor development"} {"concept_id": "C1837670", "aliases": [], "types": ["T033"], "canonical_name": "Progressive intervertebral space narrowing", "definition": "A progressive form of decreased height of the intervertebral disk. [HPO:probinson]"} {"concept_id": "C1837731", "aliases": ["Over-folded helices", "Overfolded ears", "Overfolded helices"], "types": ["T033"], "canonical_name": "Overfolded helix", "definition": "A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. [HPO:probinson, PMID:19152421]"} {"concept_id": "C1837732", "aliases": ["Thick helix"], "types": ["T033"], "canonical_name": "Thickened helices", "definition": "Increased thickness of the helix of the ear. [HPO:probinson]"} {"concept_id": "C1837733", "aliases": ["Wide lateral eyebrow"], "types": ["T033"], "canonical_name": "Broad lateral eyebrow", "definition": "Regional increase in the width (height) of the lateral eyebrow. [HPO:probinson]"} {"concept_id": "C1837757", "aliases": ["Progressive acroosteolysis of the clavicle"], "types": ["T033"], "canonical_name": "Progressive clavicular acroosteolysis", "definition": "Progressive bone resorption in the distal part of the clavicle. [HPO:probinson]"} {"concept_id": "C1837758", "aliases": ["Bird-like facial appearance"], "types": ["T033"], "canonical_name": "Bird-like facies"} {"concept_id": "C1837760", "aliases": [], "types": ["T033"], "canonical_name": "Prominent eyes"} {"concept_id": "C1837761", "aliases": ["Decreased width of nasal dorsum", "Thin dorsum of nose", "Decreased width of dorsum of nose", "Narrow nasal ridge", "Narrow nasal dorsum", "Narrow dorsum of nose", "Thin nasal ridge", "Pinched nose", "Thin nasal dorsum", "Decreased width of nasal ridge"], "types": ["T033"], "canonical_name": "Narrow nasal ridge", "definition": "Decreased width of the nasal ridge. [PMID:19152422]"} {"concept_id": "C1837763", "aliases": ["Loss of fat around neck", "Loss of adipose tissue around the neck"], "types": ["T033"], "canonical_name": "Decreased adipose tissue around neck", "definition": "Reduced amount of adipose tissue in the region of the neck. [HPO:probinson]"} {"concept_id": "C1837764", "aliases": ["Loss of fat tissue below the skin in limbs", "Loss of subcutaneous adipose tissue from extremities"], "types": ["T033"], "canonical_name": "Loss of subcutaneous adipose tissue in limbs", "definition": "Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. [HPO:probinson]"} {"concept_id": "C1837767", "aliases": ["Decreased volume of facial adipose tissue", "Decreased amount of facial adipose tissue", "Loss of facial subcutaneous adipose tissue", "Loss of subcutaneous adipose tissue from face", "Decreased amount of facial fat", "Loss of facial fat"], "types": ["T033"], "canonical_name": "Loss of facial adipose tissue", "definition": "Loss of normal subcutaneous fat tissue in the face. [HPO:curators]"} {"concept_id": "C1837781", "aliases": ["Increased fat below the skin in trunk"], "types": ["T033"], "canonical_name": "Increased subcutaneous truncal adipose tissue", "definition": "The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body. [HPO:curators]"} {"concept_id": "C1837785", "aliases": ["Marked subcutaneous veins", "Prominent veins"], "types": ["T033"], "definition": "A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal. []", "canonical_name": "Prominent superficial veins"} {"concept_id": "C1837792", "aliases": ["Insulin-resistant diabetes mellitus at puberty"], "types": ["T047"], "canonical_name": "Insulin-resistant diabetes mellitus at puberty"} {"concept_id": "C1837795", "aliases": ["Prominent navel", "Prominent belly button"], "types": ["T033"], "canonical_name": "Prominent umbilicus", "definition": "Abnormally prominent umbilicus (belly button). [HPO:curators]"} {"concept_id": "C1837799", "aliases": ["Generalised muscular appearance from birth"], "types": ["T033"], "canonical_name": "Generalized muscular appearance from birth"} {"concept_id": "C1837802", "aliases": ["Reduced circulating leptin level", "Decreased serum leptin"], "types": ["T033"], "canonical_name": "Decreased serum leptin", "definition": "A decreased concentration of leptin in the blood. [HPO:probinson, PMID:16932309]"} {"concept_id": "C1837826", "aliases": ["Cleft lower eyelid", "Lower lid coloboma", "Full thickness defect of the lower eyelid", "Coloboma of lower eyelid", "Lower eyelid coloboma"], "types": ["T047"], "definition": "A short discontinuity of the margin of the lower eyelid. [HPO:probinson]", "canonical_name": "Notched lower eyelid"} {"concept_id": "C1837832", "aliases": [], "types": ["T033"], "canonical_name": "Unilateral ulnar hypoplasia", "definition": "Underdevelopment of the ulna on only one side. [HPO:probinson]"} {"concept_id": "C1837835", "aliases": ["Bilateral clubfeet", "Club foot on both sides", "Bilateral clubfoot"], "types": ["T019"], "definition": "Bilateral clubfoot deformity (see HP:0001762). [HPO:probinson]", "canonical_name": "Bilateral talipes equinovarus"} {"concept_id": "C1837836", "aliases": ["Symmetric syndactyly, toes 4 and 5", "Webbed 4th-5th toes", "Syndactyly of toes 4 and 5"], "types": ["T033"], "canonical_name": "4-5 toe syndactyly", "definition": "Syndactyly with fusion of toes four and five. [HPO:sdoelken]"} {"concept_id": "C1837847", "aliases": ["Absence of P wave on electrocardiography"], "types": ["T033"], "canonical_name": "Absent P wave", "definition": "The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present. []"} {"concept_id": "C1837888", "aliases": ["Missing nasal bridge", "Agenesis of bridge of nose", "Absent nasal bridge", "Absent bridge of nose", "Agenesis of nasal bridge", "Missing bridge of nose"], "types": ["T019"], "canonical_name": "Absent nasal bridge"} {"concept_id": "C1837899", "aliases": ["Type 1 transferrin isoform profile", "Abnormal isoelectric focusing of serum transferrin, type I pattern", "Isoelectric focusing of serum transferrin consistent with CDG type I"], "types": ["T033"], "canonical_name": "Type I transferrin isoform profile", "definition": "Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. [HPO:probinson, PMID:15105360, PMID:22516080]"} {"concept_id": "C1838027", "aliases": ["Incomprehensible speech"], "types": ["T033"], "canonical_name": "Incomprehensible speech"} {"concept_id": "C1838063", "aliases": ["Partial auditory seizure", "Focal sensory auditory seizure", "Focal auditory seizure", "Auditory aura"], "types": ["T033"], "canonical_name": "Focal sensory seizure with auditory features", "definition": "A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation. [HPO:jalbers, PMID:28276062, PMID:28276064]"} {"concept_id": "C1838111", "aliases": [], "types": ["T034"], "canonical_name": "Bone marrow biopsy shows erythroid hyperplasia"} {"concept_id": "C1838114", "aliases": ["Generalized limb muscle atrophy", "Generalized muscle atrophy, proximal and distal", "Generalised limb muscle atrophy", "Generalized muscle wasting", "Generalised muscle wasting"], "types": ["T047"], "definition": "Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. [HPO:probinson]", "canonical_name": "Generalised muscle atrophy, proximal and distal"} {"concept_id": "C1838123", "aliases": ["Hypertrichosis, congenital anterior cervical", "Congenital cervical hypertrichosis"], "types": ["T047"], "definition": "Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence. [HPO:probinson, PMID:20400390]", "canonical_name": "Anterior cervical hypertrichosis"} {"concept_id": "C1838167", "aliases": ["Nail bed telangiectases"], "types": ["T033"], "canonical_name": "Nail bed telangiectasia", "definition": "Telangiectases in the area of the nails. [HPO:probinson]"} {"concept_id": "C1838186", "aliases": ["Square iliac bones", "Squaring of iliac bones"], "types": ["T033"], "canonical_name": "Squared iliac bones", "definition": "A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. [HPO:probinson]"} {"concept_id": "C1838319", "aliases": ["Archaic reflex", "Primitive reflex"], "types": ["T033"], "definition": "The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. [PMID:12700289]", "canonical_name": "Primitive reflexes"} {"concept_id": "C1838320", "aliases": ["Hyperoralia"], "types": ["T033"], "canonical_name": "Hyperorality", "definition": "A tendency or compulsion to examine objects by mouth. [HPO:sdoelken]"} {"concept_id": "C1838391", "aliases": ["Increased muscle tone of arm or leg"], "types": ["T033"], "canonical_name": "Limb hypertonia"} {"concept_id": "C1838578", "aliases": [], "types": ["T033"], "canonical_name": "Progressive encephalopathy"} {"concept_id": "C1838579", "aliases": ["Pseudobulbar symptoms"], "types": ["T184"], "canonical_name": "Pseudobulbar signs", "definition": "Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. [HPO:sdoelken]"} {"concept_id": "C1838608", "aliases": ["Aplasia of the radius"], "types": ["T047"], "canonical_name": "Radial aplasia"} {"concept_id": "C1838610", "aliases": ["Absent first metacarpal", "Absent 1st long bone of hand"], "types": ["T033"], "canonical_name": "Aplasia of the 1st metacarpal", "definition": "Absent first metacarpal (long bone) of the hand. [HPO:probinson]"} {"concept_id": "C1838659", "aliases": ["Deformed rib cage"], "types": ["T190"], "canonical_name": "Deformed rib cage", "definition": "Malformation of the rib cage. [HPO:probinson]"} {"concept_id": "C1838662", "aliases": ["Metaphyseal irregularities", "Irregular metaphyses", "Metaphyseal fraying", "Frayed, irregular, metaphyses", "Frayed, irregular metaphyses", "Irregular wide portion of a long bone"], "types": ["T033"], "canonical_name": "Metaphyseal irregularity", "definition": "Irregularity of the normally smooth surface of the metaphyses. [HPO:probinson]"} {"concept_id": "C1838663", "aliases": ["Enlargement of the wrists"], "types": ["T033"], "canonical_name": "Enlargement of the wrists"} {"concept_id": "C1838664", "aliases": ["Enlargement of the ankles"], "types": ["T033"], "canonical_name": "Enlargement of the ankles"} {"concept_id": "C1838681", "aliases": ["Worsening quickly", "Rapid progression"], "types": ["T033"], "canonical_name": "Rapidly progressive", "definition": "Applies to a disease manifestation that quickly increases in scope or severity over the course of time. []"} {"concept_id": "C1838705", "aliases": ["Anteriorly displaced anus", "Anus anteposition"], "types": ["T033"], "canonical_name": "Anteriorly placed anus", "definition": "Anterior malposition of the anus. [HPO:probinson]"} {"concept_id": "C1838868", "aliases": [], "types": ["T033"], "canonical_name": "Corticospinal tract atrophy"} {"concept_id": "C1838869", "aliases": [], "types": ["T184"], "canonical_name": "Proximal neurogenic muscle weakness"} {"concept_id": "C1838876", "aliases": [], "types": ["T047"], "definition": "A rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which result in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.", "canonical_name": "Lethal infantile mitochondrial myopathy"} {"concept_id": "C1838877", "aliases": ["Myoglobinuria, recurrent", "Recurrent myoglobinuria"], "types": ["T033"], "definition": "Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. [HPO:probinson]", "canonical_name": "Myoglobinuria, episodic"} {"concept_id": "C1838993", "aliases": ["Episodic vomiting"], "types": ["T033"], "canonical_name": "Episodic vomiting", "definition": "Paroxysmal, recurrent episodes of vomiting. [HPO:curators]"} {"concept_id": "C1839025", "aliases": ["Decreased amplitudes on flash visual electroretinogram", "Reduced or abolished electroretinogram", "Decreased ERG amplitude", "Decreased electroretinogram", "Decreased electroretinogram amplitude", "Reduced electroretinogram", "Reduced ERG", "Flattened or absent electroretinogram", "Decreased electroretinogram response"], "types": ["T033"], "canonical_name": "Decreased light- and dark-adapted electroretinogram amplitude", "definition": "Descreased amplitude of eletrical response upon electroretinography. [HPO:probinson]"} {"concept_id": "C1839030", "aliases": ["Weakness of orbicularis oculi muscles"], "types": ["T033"], "canonical_name": "Weakness of orbicularis oculi muscle", "definition": "Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid. [HPO:probinson]"} {"concept_id": "C1839039", "aliases": ["Highly variable phenotype"], "types": ["T033"], "canonical_name": "Highly variable clinical phenotype"} {"concept_id": "C1839042", "aliases": ["Corticospinal tract dysfunction"], "types": ["T046"], "canonical_name": "Upper motor neuron dysfunction", "definition": "A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. [HPO:probinson]"} {"concept_id": "C1839126", "aliases": [], "types": ["T033"], "canonical_name": "Premature posterior fontanelle closure"} {"concept_id": "C1839167", "aliases": [], "types": ["T033"], "canonical_name": "Intermittent thrombocytopenia", "definition": "Reduced platelet count that occurs sporadically, i.e., it comes and goes. [HPO:probinson, PMID:8384898]"} {"concept_id": "C1839248", "aliases": [], "types": ["T033"], "canonical_name": "Broad chest"} {"concept_id": "C1839252", "aliases": [], "types": ["T033"], "canonical_name": "Hump-shaped mound of bone in central and posterior portions of vertebral endplate"} {"concept_id": "C1839254", "aliases": ["Small proximal femoral epiphyses", "Small innermost thighbone end part", "Underdevelopment of the innermost thighbone end part", "Small femoral capital epiphyses", "Small capital femoral epiphyses"], "types": ["T033"], "canonical_name": "Hypoplasia of the capital femoral epiphysis", "definition": "Underdevelopment of the proximal epiphysis of the femur. [HPO:probinson]"} {"concept_id": "C1839269", "aliases": [], "types": ["T033"], "canonical_name": "Duplication of renal pelvis", "definition": "A duplication of the renal pelvis. [HPO:probinson]"} {"concept_id": "C1839271", "aliases": ["Fetal overgrowth", "Foetal overgrowth"], "types": ["T033"], "canonical_name": "Birth length greater than 97th percentile"} {"concept_id": "C1839276", "aliases": ["Secondary alveolar ridges"], "types": ["T033"], "canonical_name": "Broad secondary alveolar ridge"} {"concept_id": "C1839277", "aliases": ["Submucous labial cleft"], "types": ["T033"], "canonical_name": "Submucous cleft lip", "definition": "A cleft of the lip with overlying mucous membrane. [HPO:probinson]"} {"concept_id": "C1839279", "aliases": [], "types": ["T033"], "canonical_name": "Six lumbar vertebrae"} {"concept_id": "C1839285", "aliases": ["Two carpal ossification centres present at birth"], "types": ["T019"], "canonical_name": "Two carpal ossification centers present at birth"} {"concept_id": "C1839304", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of CD4+ T cells"} {"concept_id": "C1839305", "aliases": ["Decreased proportion of CD8-positive, alpha-beta T cells", "CD8+ T-cell lymphopenia", "Decreased proportion of CD8+ T cells"], "types": ["T033"], "canonical_name": "Decreased proportion of CD8-positive T cells", "definition": "A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells. [HPO:probinson]"} {"concept_id": "C1839323", "aliases": [], "types": ["T033"], "canonical_name": "Small chin"} {"concept_id": "C1839326", "aliases": ["Abnormally shaped vertebrae"], "types": ["T033"], "canonical_name": "Abnormal form of the vertebral bodies", "definition": "Abnormal morphology of vertebral body. []"} {"concept_id": "C1839341", "aliases": ["T-wave abnormalities", "EKG: T-wave abnormalities"], "types": ["T033"], "canonical_name": "Abnormal T-wave", "definition": "An electrocardiographic finding of a T wave which appears peaked, inverted, flattened or biphasic."} {"concept_id": "C1839362", "aliases": ["Cystic retinal degeneration", "Peripheral cystoid degeneration"], "types": ["T033"], "canonical_name": "Peripheral cystoid retinal degeneration", "definition": "Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C1839364", "aliases": ["Progressive visual acuity loss", "Visual loss, progressive", "Progressive visual loss", "Progressive vision loss", "Vision loss, progressive", "Progressive loss of vision", "Progressive visual impairment", "Slowly progressive visual loss"], "types": ["T033"], "definition": "A reduction of previously attained ability to see. [HPO:probinson]", "canonical_name": "Loss of visual acuity"} {"concept_id": "C1839424", "aliases": [], "types": ["T033"], "canonical_name": "Increased blood alanine"} {"concept_id": "C1839436", "aliases": [], "types": ["T033"], "canonical_name": "Severe lactic acidosis", "definition": "A severe form of lactic acidemia. [HPO:probinson]"} {"concept_id": "C1839437", "aliases": [], "types": ["T047"], "canonical_name": "Chronic lactic acidosis", "definition": "A chronic form of lactic acidemia. [HPO:probinson]"} {"concept_id": "C1839458", "aliases": [], "types": ["T033"], "canonical_name": "Dysfunctional alternative complement pathway", "definition": "An abnormality of the functioning of any aspect of the alternative complement pathway. []"} {"concept_id": "C1839507", "aliases": ["Increased thickness of skull base", "Thick skull base", "Increased thickness of bone of skull base"], "types": ["T033"], "canonical_name": "Thick skull base"} {"concept_id": "C1839512", "aliases": [], "types": ["T033"], "canonical_name": "Limited knee flexion", "definition": "Reduced ability to flex (bend) the knee joint. []"} {"concept_id": "C1839531", "aliases": [], "types": ["T033"], "canonical_name": "Protein avoidance"} {"concept_id": "C1839532", "aliases": [], "types": ["T033"], "canonical_name": "Low plasma citrulline", "definition": "A decreased concentration of citrulline in the blood. [HPO:gcarletti]"} {"concept_id": "C1839533", "aliases": ["High plasma glutamine"], "types": ["T033"], "canonical_name": "Hyperglutaminemia", "definition": "An increased concentration of glutamine in the blood. [HPO:gcarletti, PMID:4696900]"} {"concept_id": "C1839541", "aliases": [], "types": ["T033"], "canonical_name": "Episodic ammonia intoxication"} {"concept_id": "C1839546", "aliases": ["Retromicrognathia", "Small retruded chin"], "types": ["T033"], "canonical_name": "Microretrognathia", "definition": "A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. [HPO:probinson]"} {"concept_id": "C1839603", "aliases": ["Proximal tubular defect", "Selective proximal tubular damage", "Proximal tubule dysfunction", "Proximal renal tubule defect", "Proximal renal tubulopathy"], "types": ["T047"], "canonical_name": "Proximal tubulopathy", "definition": "A proximal renal tubular disorder resulting in diminished reabsorption of phosphate, glucose, amino acids, urate, and low molecular weight proteins."} {"concept_id": "C1839604", "aliases": [], "types": ["T033"], "canonical_name": "Renal failure in adulthood"} {"concept_id": "C1839606", "aliases": ["Tubular proteinuria"], "types": ["T033"], "canonical_name": "Low-molecular-weight proteinuria", "definition": "Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). [PMID:95574]"} {"concept_id": "C1839630", "aliases": ["Severely decreased muscle tone", "Hypotonia, severe"], "types": ["T033"], "canonical_name": "Severe muscular hypotonia", "definition": "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. [HPO:curators]"} {"concept_id": "C1839653", "aliases": ["Contracture of post-cervical muscles"], "types": ["T033"], "canonical_name": "Decreased cervical spine flexion due to contractures of posterior cervical muscles"} {"concept_id": "C1839666", "aliases": ["Pseudohypertrophy of the calves"], "types": ["T033"], "canonical_name": "Calf muscle pseudohypertrophy", "definition": "Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. [HPO:probinson]"} {"concept_id": "C1839731", "aliases": ["11 pairs of ribs"], "types": ["T033"], "canonical_name": "11 pairs of ribs", "definition": "Presence of only 11 pairs of ribs. [HPO:probinson]"} {"concept_id": "C1839739", "aliases": ["Thick vermilion border of lower lip", "Prominent lower lip", "Plump lower lip", "Increased volume of lower lip vermilion", "Thick red part of the lower lip", "Increased volume of lower lip", "Prominent lower lip vermilion", "Full lower lip vermilion", "Increased height of lower lip vermilion", "Thick lower lip"], "types": ["T033"], "canonical_name": "Thick lower lip vermilion", "definition": "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). [HPO:curators, PMID:19125428]"} {"concept_id": "C1839749", "aliases": ["Paroxysmal laughter"], "types": ["T033"], "canonical_name": "Paroxysmal bursts of laughter"} {"concept_id": "C1839758", "aliases": ["Narrow forehead", "Bitemporal skull narrowing", "Bitemporal narrowness", "Narrow bitemporal width", "Decreased width of the forehead", "Narrow bitemporal diameter", "Temporal narrowness", "Bitemporal narrowing", "Intertemporal narrowing"], "types": ["T033"], "canonical_name": "Narrow forehead", "definition": "Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). [PMID:19125436]"} {"concept_id": "C1839764", "aliases": [], "types": ["T033"], "canonical_name": "Broad flat nasal bridge"} {"concept_id": "C1839765", "aliases": ["Triangular shaped tip of nose", "Triangular nasal tip"], "types": ["T033"], "canonical_name": "Triangular nasal tip"} {"concept_id": "C1839767", "aliases": ["Inverted V-shaped upper lip"], "types": ["T033"], "canonical_name": "Tented upper lip vermilion", "definition": "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. [PMID:19125428]"} {"concept_id": "C1839782", "aliases": [], "types": ["T033"], "canonical_name": "Macroorchidism, postpubertal"} {"concept_id": "C1839783", "aliases": ["Increased size of forehead", "Increased size of frontal region of face", "Large forehead"], "types": ["T033"], "canonical_name": "Large forehead"} {"concept_id": "C1839785", "aliases": [], "types": ["T033"], "canonical_name": "Folate-dependent fragile site at Xq28", "definition": "The presence of a folate sensitive fragile site at chromosome Xq28. [HPO:probinson]"} {"concept_id": "C1839797", "aliases": ["Pronounced philtrum", "Increased depth of philtrum", "Philtrum, deep", "Prominent philtrum"], "types": ["T033"], "canonical_name": "Deep philtrum", "definition": "Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. [PMID:19152422]"} {"concept_id": "C1839798", "aliases": ["Elongated nose", "Increased nasal length", "Increased length of nose", "Nasal elongation", "Increased nasal height", "Long nose", "Increased height of nose"], "types": ["T033"], "canonical_name": "Long nose", "definition": "Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. [PMID:19152422]"} {"concept_id": "C1839816", "aliases": ["Elongated neck", "Cervical elongation", "Long neck", "Increased cervical length", "Increased length of neck"], "types": ["T033"], "canonical_name": "Long neck", "definition": "Increased inferior-superior length of the neck. [HPO:probinson]"} {"concept_id": "C1839822", "aliases": ["Anteriorly concave vertebrae"], "types": ["T033"], "canonical_name": "Anterior concavity of thoracic vertebrae"} {"concept_id": "C1839829", "aliases": ["Brachytelophalangy", "Hypoplasia of the distal phalanges", "Short outermost finger bone", "Short distal phalanges", "Distal phalangeal hypoplasia", "Hypoplastic distal phalanges", "Hypoplastic terminal phalanges", "Terminal phalangeal hypoplasia of hand", "Hypoplasic terminal phalanges", "Hypoplasia of the distal phalanges of the hand"], "types": ["T033"], "canonical_name": "Short distal phalanx of finger", "definition": "Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. [HPO:probinson, PMID:19125433]"} {"concept_id": "C1839830", "aliases": ["Hirsute forehead", "Hairy forehead"], "types": ["T033"], "canonical_name": "Frontal hirsutism", "definition": "Excessive amount of hair growth on forehead. [DDD:jclayton-smith]"} {"concept_id": "C1839832", "aliases": ["Spongiform cardiomyopathy", "Noncompaction of the ventricular myocardium"], "types": ["T047"], "canonical_name": "Noncompaction cardiomyopathy", "definition": "A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. [HPO:probinson, PMID:15210614, PMID:24282766]"} {"concept_id": "C1839858", "aliases": [], "types": ["T033"], "canonical_name": "Periventricular cysts"} {"concept_id": "C1839860", "aliases": ["Elevated amniotic fluid alpha fetal protein", "Elevated amniotic fluid alpha foetal protein", "Elevated amniotic fluid alpha-fetoglobulin", "Elevated amniotic fluid alpha-1-fetoprotein"], "types": ["T033"], "canonical_name": "Elevated amniotic fluid alpha-fetoprotein", "definition": "An elevation of alpha-feto protein measured in the amniotic fluid. [HPO:curators]"} {"concept_id": "C1839864", "aliases": [], "types": ["T190"], "canonical_name": "Flexion contracture of digit", "definition": "A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. []"} {"concept_id": "C1839865", "aliases": ["Increased urine bicarbonate concentration", "Increased urine HCO3 concentration"], "types": ["T033"], "canonical_name": "Bicarbonaturia", "definition": "Abnormally increased concentration of hydrogencarbonate in the urine. [HPO:probinson]"} {"concept_id": "C1839866", "aliases": ["Elevated serum acid phosphatase"], "types": ["T033"], "canonical_name": "Acid phosphatase elevated"} {"concept_id": "C1839888", "aliases": ["Decreased activity of the PDH complex", "Pyruvate dehydrogenase complex deficiency"], "types": ["T033"], "canonical_name": "Decreased activity of the pyruvate dehydrogenase complex"} {"concept_id": "C1839965", "aliases": ["Multiple impacted teeth"], "types": ["T033"], "definition": "The presence of multiple impacted teeth. [HPO:ibailleulforestier]", "canonical_name": "Impacted teeth"} {"concept_id": "C1839969", "aliases": [], "types": ["T033"], "canonical_name": "Reduced natural killer cell activity", "definition": "Reduced ability of the natural killer cell to function in the adaptive immune response. [HPO:probinson]"} {"concept_id": "C1839972", "aliases": ["Increased levels of IgM", "Increased IgM levels"], "types": ["T033"], "canonical_name": "Increased circulating IgM level", "definition": "An abnormally increased level of immunoglobulin M in blood. [HPO:probinson]"} {"concept_id": "C1840006", "aliases": ["Mild prenatal growth deficiency"], "types": ["T033"], "canonical_name": "Mild intrauterine growth retardation", "definition": "Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age. [DDD:hfirth]"} {"concept_id": "C1840013", "aliases": [], "types": ["T033"], "canonical_name": "Elevated 8-dehydrocholesterol"} {"concept_id": "C1840014", "aliases": [], "types": ["T033"], "canonical_name": "Elevated 8(9)-cholestenol"} {"concept_id": "C1840062", "aliases": ["Lesser trochanter hypoplasia"], "types": ["T033"], "canonical_name": "Hypoplasia of the lesser trochanter", "definition": "Underdevelopment of the lesser trochanter. [HPO:probinson]"} {"concept_id": "C1840066", "aliases": ["Long femoral neck"], "types": ["T033"], "canonical_name": "Elongated femoral neck", "definition": "Increased length of the neck of the femur. [PMID:33252156]"} {"concept_id": "C1840068", "aliases": ["Small patella", "Underdeveloped kneecap", "Hypoplastic patellae", "Small patellae", "Small kneecap"], "types": ["T033"], "canonical_name": "Patellar hypoplasia", "definition": "Underdevelopment of the patella. [HPO:curators]"} {"concept_id": "C1840069", "aliases": ["Widened gap 1st-2nd toes", "Gap between 1st and 2nd toes", "Space between great toe and second toe", "Wide space between 1st, 2nd toes", "Sandal gap between first and second toes", "Widened gap first and second toe", "Wide space between first and second toes", "Widely spaced first and second toes", "Increased space between first and second toes", "Gap between first and second toe", "Wide-spaced big toe", "Widely spaced 1st-2nd toes"], "types": ["T033"], "canonical_name": "Sandal gap", "definition": "A widely spaced gap between the first toe (the great toe) and the second toe. [HPO:probinson, PMID:19125433]"} {"concept_id": "C1840077", "aliases": ["Anteverted nostrils", "Upturned nasal tip", "Nostrils anteverted", "Anteverted nares", "Anteverted nose", "Nasal tip, upturned", "Upturned nares", "Upturned nose", "Upturned nasal tips"], "types": ["T033"], "definition": "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). [PMID:19152422]", "canonical_name": "Upturned nostrils"} {"concept_id": "C1840086", "aliases": ["Pectoralis major muscle hypoplasia"], "types": ["T033"], "canonical_name": "Pectoralis major hypoplasia", "definition": "Underdevelopment of the pectoralis major. [HPO:probinson]"} {"concept_id": "C1840087", "aliases": [], "types": ["T033"], "canonical_name": "Radial ray hypoplasia"} {"concept_id": "C1840088", "aliases": ["Limited movement of the wrist", "Limited wrist movement"], "types": ["T033"], "canonical_name": "Limited wrist movement", "definition": "An abnormal limitation of the mobility of the wrist. [HPO:probinson]"} {"concept_id": "C1840089", "aliases": ["Limited movement of hinge joints"], "types": ["T033"], "canonical_name": "Limited interphalangeal movement"} {"concept_id": "C1840225", "aliases": ["Missing lower central incisor", "Missing mandibular central incisor", "Absence of mandibular central incisor"], "types": ["T033"], "canonical_name": "Absence of lower central incisor"} {"concept_id": "C1840235", "aliases": ["Single central incisor", "Single central upper incisor", "Single median maxillary incisor", "Single midline upper front tooth", "Solitary midline maxillary central incisor", "Only one upper front tooth", "Single maxillary central incisor", "Solitary median maxillary central incisor syndrome", "Single median maxillary central incisor", "Single median incisor", "Solitary median maxillary central incisor"], "types": ["T019"], "definition": "A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors. [PMID:19125428]", "canonical_name": "Single midline maxillary incisor"} {"concept_id": "C1840236", "aliases": [], "types": ["T033"], "canonical_name": "Prominent midpalatal ridge"} {"concept_id": "C1840238", "aliases": ["Midnasal atresia or stenosis"], "types": ["T033"], "canonical_name": "Midnasal stenosis", "definition": "Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress. [HPO:probinson]"} {"concept_id": "C1840305", "aliases": [], "types": ["T033"], "canonical_name": "Absent external auditory canals"} {"concept_id": "C1840307", "aliases": ["Short outer part of limbs"], "types": ["T033"], "canonical_name": "Distal shortening of limbs"} {"concept_id": "C1840309", "aliases": ["Shortened 4th long bone of hand", "Hypoplastic fourth metacarpal", "Short 4th metacarpals", "Short fourth metacarpals"], "types": ["T033"], "canonical_name": "Short 4th metacarpal", "definition": "Short fourth metacarpal bone. [HPO:probinson]"} {"concept_id": "C1840310", "aliases": [], "types": ["T033"], "canonical_name": "Midline facial capillary hemangioma"} {"concept_id": "C1840311", "aliases": ["Laryngotracheal cleft", "Laryngotracheoesophageal cleft i"], "types": ["T019"], "definition": "A rare congenital abnormality in the laryngo-tracheal wall. It results from the incomplete development of the tracheoesophageal septum. Signs and symptoms include coughing, cyanosis, repeated pulmonary infections, and failure to gain weight.", "canonical_name": "Laryngeal cleft"} {"concept_id": "C1840319", "aliases": ["Excess skin over the neck", "Excessive nuchal skin", "Redundant skin over the neck", "Redundant neck skin", "Redundant skin folds of neck", "Redundant nuchal skin", "Excess neck skin"], "types": ["T033"], "canonical_name": "Redundant neck skin", "definition": "Excess skin around the neck, often lying in horizontal folds. [PMID:19125436]"} {"concept_id": "C1840372", "aliases": [], "types": ["T033"], "canonical_name": "Mixed respiratory and metabolic acidosis"} {"concept_id": "C1840374", "aliases": ["Elevated systolic BP"], "types": ["T033"], "canonical_name": "Elevated systolic blood pressure", "definition": "Abnormal increase in systolic blood pressure. [HPO:probinson]"} {"concept_id": "C1840375", "aliases": ["Elevated diastolic BP"], "types": ["T033"], "canonical_name": "Elevated diastolic blood pressure", "definition": "Abnormal increase in diastolic blood pressure. [HPO:probinson]"} {"concept_id": "C1840376", "aliases": [], "types": ["T033"], "canonical_name": "Elevated mean arterial pressure", "definition": "An abnormal increase in the average blood pressure in an individual during a single cardiac cycle. [PMID:18451345]"} {"concept_id": "C1840379", "aliases": ["Hypoplasia of the cerebellar vermis", "Hypoplastic cerebellar vermis", "Cerebellar vermal hypoplasia"], "types": ["T033"], "canonical_name": "Cerebellar vermis hypoplasia", "definition": "Underdevelopment of the vermis of cerebellum. [HPO:probinson]"} {"concept_id": "C1840380", "aliases": ["Widened cavum septum pellucidum", "Persistent cavum septum pellucidum", "Cavum septum pellucidum"], "types": ["T033"], "definition": "If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. [HPO:curators]", "canonical_name": "Large cavum septi pellucidi"} {"concept_id": "C1840382", "aliases": ["Ureteral anomalies", "Ureter issue", "Abnormality of the ureters"], "types": ["T033"], "canonical_name": "Abnormality of the ureter", "definition": "An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. [HPO:probinson]"} {"concept_id": "C1840404", "aliases": ["Hyperostosis of the internal surface of the cranial bone", "Excessive growth of inner surface of the skull bones", "Hyperostosis of the internal surface of the cranial bones", "Hyperostosis cranialis interna"], "types": ["T047"], "definition": "Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. [HPO:probinson]", "canonical_name": "Overgrowth of the inner surface of the skull bones"} {"concept_id": "C1840418", "aliases": ["Thickened cortices of long bones", "Broad cortex of long bones", "Cortical thickening of the long bones"], "types": ["T033"], "canonical_name": "Thickened cortex of long bones", "definition": "Abnormal thickening of the cortex of long bones. [HPO:curators]"} {"concept_id": "C1840419", "aliases": [], "types": ["T033"], "canonical_name": "Metacarpal diaphyseal endosteal sclerosis", "definition": "Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone. [HPO:probinson]"} {"concept_id": "C1840420", "aliases": [], "types": ["T033"], "canonical_name": "Metatarsal diaphyseal endosteal sclerosis", "definition": "Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones. [HPO:curators]"} {"concept_id": "C1840452", "aliases": [], "types": ["T047"], "definition": "A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels. [PMID:8152765]", "canonical_name": "Erosive vitreoretinopathy"} {"concept_id": "C1840455", "aliases": [], "types": ["T033"], "canonical_name": "Mild myopia", "definition": "A mild form of myopia with up to -3.00 diopters. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C1840457", "aliases": [], "types": ["T033"], "canonical_name": "Retinal pigment epithelial atrophy", "definition": "Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging. [HPO:probinson]"} {"concept_id": "C1840475", "aliases": [], "types": ["T047"], "definition": "A type of Horner syndrome with congenital onset. [HPO:probinson]", "canonical_name": "Congenital Horner syndrome"} {"concept_id": "C1840535", "aliases": ["Abnormal wrist bones", "Anomalous carpal bones", "Carpal bone anomalies", "Abnormality of the carpal bones", "Abnormal carpal bones"], "types": ["T190"], "canonical_name": "Abnormal carpal morphology", "definition": "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). [HPO:probinson]"} {"concept_id": "C1841648", "aliases": ["Underdeveloped mandibular rami", "Decreased height of mandibular ramus", "Short body and ramus of mandible", "Short mandibular ramus"], "types": ["T033"], "canonical_name": "Short mandibular rami"} {"concept_id": "C1841659", "aliases": [], "types": ["T047"], "canonical_name": "Atrioventricular nodal disease"} {"concept_id": "C1841661", "aliases": [], "types": ["T046"], "canonical_name": "Complete heart block with narrow QRS complexes", "definition": "A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex. []"} {"concept_id": "C1841680", "aliases": ["Vertical vaginal septum"], "types": ["T033"], "canonical_name": "Longitudinal vaginal septum", "definition": "The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication. [HPO:curators]"} {"concept_id": "C1841684", "aliases": ["Carpal delayed ossification", "Delayed maturation of carpal bones", "Delayed carpal bone age", "Delayed carpal ossification"], "types": ["T033"], "canonical_name": "Delayed ossification of carpal bones", "definition": "Ossification of carpal bones occurs later than age-adjusted norms. [HPO:probinson]"} {"concept_id": "C1841685", "aliases": [], "types": ["T033"], "canonical_name": "Pseudoepiphyses"} {"concept_id": "C1841686", "aliases": ["Agenesis of the halluces", "Aplasia of the hallux", "Missing big toe", "Absent big toe"], "types": ["T033"], "canonical_name": "Absent hallux", "definition": "Aplasia of the hallux, that is, a development defect such that the big toe does not develop. [HPO:probinson]"} {"concept_id": "C1841688", "aliases": ["First metatarsal hypoplasia", "Short 1st long bone of foot", "First metatarsals hypoplastic"], "types": ["T033"], "canonical_name": "Short first metatarsal", "definition": "Short first metatarsal bone. [HPO:probinson]"} {"concept_id": "C1841816", "aliases": [], "types": ["T033"], "canonical_name": "Decreased von Willebrand factor"} {"concept_id": "C1841990", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia of the vagina", "definition": "Aplasia of the vagina. [HPO:probinson]"} {"concept_id": "C1841994", "aliases": [], "types": ["T033"], "canonical_name": "Decreased numbers of glomeruli"} {"concept_id": "C1842003", "aliases": [], "types": ["T033"], "canonical_name": "Subclinical abnormal liver function tests"} {"concept_id": "C1842036", "aliases": ["Giant pigmented nevus", "Giant pigmented mole", "Giant pigmented hairy nevus"], "types": ["T191"], "definition": "A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors.", "canonical_name": "Congenital giant melanocytic nevus"} {"concept_id": "C1842060", "aliases": ["Supraorbital hyperostosis", "Prominent supraorbital ridge", "Protruding supraorbital ridge", "Prominent supraorbital margins", "Prominent brow"], "types": ["T033"], "canonical_name": "Prominent supraorbital ridges", "definition": "Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. [PMID:19125436]"} {"concept_id": "C1842073", "aliases": ["Bradyopsia"], "types": ["T033"], "definition": "Difficulty in seeing moving objects. [PMID:25770143]", "canonical_name": "Difficulty seeing moving objects"} {"concept_id": "C1842083", "aliases": ["Rib abnormalities", "Rib anomalies", "Abnormal rib morphology"], "types": ["T190"], "definition": "An anomaly of the rib. [HPO:probinson]", "canonical_name": "Abnormality of the ribs"} {"concept_id": "C1842084", "aliases": [], "types": ["T033"], "canonical_name": "Posterior rib fusion", "definition": "Complete or partial merging of the posterior part of adjacent ribs. [HPO:probinson]"} {"concept_id": "C1842138", "aliases": ["Progressive hearing loss"], "types": ["T033"], "canonical_name": "Progressive hearing impairment", "definition": "A progressive form of hearing impairment. [HPO:probinson]"} {"concept_id": "C1842153", "aliases": ["irregular vertebral plates", "Irregular end plates", "endplate irregularities", "endplate irregularity", "end-plate irregularities", "vertebral endplate irregularity", "Irregular endplates"], "types": ["T033"], "canonical_name": "Irregular vertebral endplates", "definition": "An irregular surface of the vertebral end plates, which are normally relatively smooth. [HPO:probinson]"} {"concept_id": "C1842154", "aliases": ["Vertebral body sclerosis"], "types": ["T033"], "canonical_name": "Sclerotic vertebral body", "definition": "Increase in bone density of the vertebral body. [HPO:probinson]"} {"concept_id": "C1842155", "aliases": ["Flattened proximal femoral epiphyses", "Flat capital femoral epiphyses", "Flat end part of innermost thighbone", "Flat femoral capital epiphyses", "Flat proximal femoral epiphyses"], "types": ["T033"], "canonical_name": "Flat capital femoral epiphysis", "definition": "An abnormal flattening of the proximal epiphysis of the femur. [HPO:probinson]"} {"concept_id": "C1842161", "aliases": ["Neurogenic scapuloperoneal syndrome"], "types": ["T033"], "canonical_name": "Scapuloperoneal weakness"} {"concept_id": "C1842162", "aliases": ["Scapuloperoneal atrophy"], "types": ["T033"], "canonical_name": "Scapuloperoneal amyotrophy", "definition": "Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. [HPO:probinson]"} {"concept_id": "C1842170", "aliases": ["Centrally nucleated skeletal muscle fibers", "Centralised sarcomeric nuclei", "Centralised nuclei", "Centralized nuclei", "Central nuclei", "Centralized sarcomeric nuclei"], "types": ["T033"], "definition": "An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). [HPO:probinson, PMID:20181480]", "canonical_name": "Centrally nucleated skeletal muscle fibres"} {"concept_id": "C1842229", "aliases": ["Wide metacarpals", "Wide long bones of hand"], "types": ["T033"], "canonical_name": "Broad metacarpals", "definition": "Abnormally broad metacarpal bones. [HPO:probinson]"} {"concept_id": "C1842231", "aliases": ["Wide long bone of foot", "Broad metatarsals"], "types": ["T033"], "canonical_name": "Broad metatarsal", "definition": "Increased side-to-side width of a metatarsal bone. [HPO:probinson]"} {"concept_id": "C1842364", "aliases": [], "types": ["T033"], "canonical_name": "Central hypotonia"} {"concept_id": "C1842366", "aliases": ["Low frontal hairline", "Low-set frontal hairline"], "types": ["T033"], "canonical_name": "Low anterior hairline", "definition": "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. [PMID:19125436]"} {"concept_id": "C1842404", "aliases": [], "types": ["T033"], "canonical_name": "Insulin-dependent but ketosis-resistant diabetes", "definition": "Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin. [HPO:probinson]"} {"concept_id": "C1842406", "aliases": ["Pancreatic calcifications"], "types": ["T033"], "canonical_name": "Pancreatic calcification", "definition": "The presence of abnormal calcium deposition lesions in the pancreas. [HPO:probinson]"} {"concept_id": "C1842408", "aliases": [], "types": ["T033"], "canonical_name": "increased risk of pancreatic cancer"} {"concept_id": "C1842528", "aliases": ["Impaired B-lymphocyte isotype switching"], "types": ["T033"], "canonical_name": "Impaired Ig class switch recombination", "definition": "An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE. [HPO:probinson, PMID:11544001]"} {"concept_id": "C1842552", "aliases": ["Wasting of limb-girdle muscle"], "types": ["T047"], "canonical_name": "Limb-girdle muscle atrophy", "definition": "Muscular atrophy affecting the muscles of the limb girdle. [HPO:curators]"} {"concept_id": "C1842581", "aliases": ["Corpus callosum abnormality", "Abnormal corpus callosum", "Abnormality of the corpus callosum"], "types": ["T190"], "canonical_name": "Abnormal corpus callosum morphology", "definition": "Abnormality of the corpus callosum. [HPO:probinson, PMID:21263138]"} {"concept_id": "C1842584", "aliases": [], "types": ["T033"], "canonical_name": "Impaired saccades"} {"concept_id": "C1842587", "aliases": ["Axonal sensory neuropathy"], "types": ["T033"], "canonical_name": "Sensory axonal neuropathy", "definition": "An axonal neuropathy of peripheral sensory nerves. [HPO:curators]"} {"concept_id": "C1842680", "aliases": ["Hypoplastic earlobes", "Small earlobes", "Hypoplastic lobules", "Small earlobe"], "types": ["T033"], "canonical_name": "Small earlobe", "definition": "Reduced volume of the earlobe. [HPO:probinson, PMID:19152421]"} {"concept_id": "C1842681", "aliases": ["Underdeveloped helices"], "types": ["T033"], "canonical_name": "Hypoplastic helices", "definition": "Underdevelopment of the helix, i.e., of the outer rim of the pinna. [HPO:curators]"} {"concept_id": "C1842688", "aliases": ["Brainstem hypoplasia", "Hypoplastic brain stem", "Hypoplastic brainstem", "Small brainstem", "Underdeveloped brainstem"], "types": ["T033"], "canonical_name": "Hypoplasia of the brainstem", "definition": "Underdevelopment of the brainstem. [HPO:probinson]"} {"concept_id": "C1842695", "aliases": ["Absent rib calcification in utero"], "types": ["T033"], "canonical_name": "Absent in utero rib ossification", "definition": "Lack of formation and mineralization of the ribs in utero. [HPO:probinson]"} {"concept_id": "C1842696", "aliases": ["Dorsal rib defect"], "types": ["T190"], "canonical_name": "Posterior rib gap", "definition": "Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest. [UToronto:bgallinger]"} {"concept_id": "C1842698", "aliases": [], "types": ["T033"], "canonical_name": "Absent in utero ossification of vertebral bodies"} {"concept_id": "C1842714", "aliases": [], "types": ["T033"], "canonical_name": "Desquamation of skin soon after birth"} {"concept_id": "C1842774", "aliases": ["Hyperpigmented macules", "Hyperpigmented spots", "Hyperpigmented skin patches"], "types": ["T033"], "canonical_name": "Hypermelanotic macule", "definition": "A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. [DDD:cmoss]"} {"concept_id": "C1842777", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent upper and lower respiratory tract infections", "definition": "Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections. []"} {"concept_id": "C1842820", "aliases": ["Cardiac conduction abnormality", "Abnormality of cardiac conduction system", "Cardiac conduction abnormalities", "Heart conduction disorder", "Cardiac conduction defects"], "types": ["T033"], "definition": "Any anomaly of the progression of electrical impulses through the heart. []", "canonical_name": "Abnormality of cardiac conduction"} {"concept_id": "C1842876", "aliases": ["Retruded nasal ridge", "Depressed nasal dorsum", "Recessed dorsum of nose", "Retruded dorsum of nose", "Flat nose", "Depressed dorsum of nose", "Recessed nasal ridge", "Flat nasal dorsum", "Recessed nasal dorsum", "Retruded nasal dorsum", "Flat dorsum of nose"], "types": ["T033"], "canonical_name": "Depressed nasal ridge", "definition": "Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. [HPO:probinson, PMID:19152422]"} {"concept_id": "C1842878", "aliases": ["Short pinkie finger", "Short little finger", "Short 5th finger", "Short fifth finger", "Short fifth fingers", "Fifth finger brachydactyly", "Hypoplastic/small little finger", "Short phalanges of the little finger", "Hypoplastic/small 5th finger", "Short pinky finger", "Hypoplastic phalanges of the little finger"], "types": ["T019"], "canonical_name": "Short 5th finger", "definition": "Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. [HPO:sdoelken]"} {"concept_id": "C1842892", "aliases": [], "types": ["T033"], "canonical_name": "Vascular abnormalities restricted to skin"} {"concept_id": "C1843005", "aliases": ["Absent eyelashes", "Atrichia of eyelashes"], "types": ["T019"], "canonical_name": "Absent eyelashes", "definition": "Lack of eyelashes. [HPO:curators, PMID:19125427]"} {"concept_id": "C1843057", "aliases": ["Calf hypertrophy", "Muscular hypertrophy of the calf muscles", "Increased size of calf muscles"], "types": ["T033"], "canonical_name": "Calf muscle hypertrophy", "definition": "Muscle hypertrophy affecting the calf muscles. [HPO:curators]"} {"concept_id": "C1843077", "aliases": ["Segmental demyelination/remyelination"], "types": ["T033"], "canonical_name": "Segmental peripheral demyelination/remyelination", "definition": "A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. [HPO:probinson]"} {"concept_id": "C1843105", "aliases": ["Large distal femoral epiphyses", "Enlargement of the outermost thighbone end part"], "types": ["T033"], "canonical_name": "Enlargement of the distal femoral epiphysis", "definition": "An abnormal enlargement of the distal epiphysis of the femur. [HPO:probinson]"} {"concept_id": "C1843108", "aliases": ["Short palm", "Short palms"], "types": ["T033"], "canonical_name": "Short palm", "definition": "Short palm. [HPO:probinson, PMID:19125433]"} {"concept_id": "C1843112", "aliases": ["Wide fingernails", "Broad fingernails", "Broad nail"], "types": ["T033"], "canonical_name": "Broad nail", "definition": "Increased width of nail. [HPO:probinson]"} {"concept_id": "C1843146", "aliases": [], "types": ["T033"], "canonical_name": "Normal interictal EEG", "definition": "Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis. []"} {"concept_id": "C1843156", "aliases": ["Hearing loss, progressive sensorineural", "Hearing loss, sensorineural, progressive", "Sensorineural hearing loss, progressive"], "types": ["T047"], "canonical_name": "Progressive sensorineural hearing impairment", "definition": "A progressive form of sensorineural hearing impairment. [HPO:probinson]"} {"concept_id": "C1843168", "aliases": ["Irregular myelin foldings", "Excessive focal folding of myelin sheaths"], "types": ["T033"], "canonical_name": "Myelin outfoldings", "definition": "The presence of excessive redundant myelin in the peripheral nerve sheath. [HPO:probinson, PMID:10932274]"} {"concept_id": "C1843169", "aliases": [], "types": ["T033"], "canonical_name": "Clusters of axonal regeneration", "definition": "Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. [HPO:jbaets]"} {"concept_id": "C1843175", "aliases": [], "types": ["T033"], "canonical_name": "Hyperreflexia in upper limbs"} {"concept_id": "C1843187", "aliases": [], "types": ["T033"], "canonical_name": "Hoarse voice due to vocal cord paresis"} {"concept_id": "C1843228", "aliases": ["Degeneration of small hand muscles"], "types": ["T047"], "canonical_name": "Hypotrophy of the small hand muscles"} {"concept_id": "C1843274", "aliases": [], "types": ["T047"], "definition": "Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. [HPO:probinson]", "canonical_name": "Acute tubulointerstitial nephritis"} {"concept_id": "C1843276", "aliases": ["Reversible renal failure", "Reversible kidney failure"], "types": ["T047"], "canonical_name": "Reversible renal failure", "definition": "Acute renal failure with resolution of manifestations. [HPO:probinson]"} {"concept_id": "C1843300", "aliases": ["Thin eyelashes", "Sparse eyelashes", "Scanty eyelashes", "Scant eyelashes", "Partial absence of eyelashes", "Hypotrichosis of eyelashes"], "types": ["T033"], "canonical_name": "Sparse eyelashes", "definition": "Decreased density/number of eyelashes. [PMID:19125427]"} {"concept_id": "C1843331", "aliases": ["Osteosclerosis, diffuse symmetrical", "Diffuse, symmetrical osteosclerosis", "Generalised osteosclerosis"], "types": ["T033"], "canonical_name": "Generalized osteosclerosis", "definition": "An abnormal increase of bone mineral density with generalized involvement of the skeleton. [HPO:probinson]"} {"concept_id": "C1843359", "aliases": [], "types": ["T033"], "definition": "The formation of an epidermal layer which lacks nuclei during normal keratinization.", "canonical_name": "Orthokeratosis"} {"concept_id": "C1843367", "aliases": [], "types": ["T033"], "canonical_name": "Poor school performance"} {"concept_id": "C1843369", "aliases": [], "types": ["T047"], "canonical_name": "Vertical supranuclear gaze palsy", "definition": "A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. [HPO:probinson, PMID:20671861]"} {"concept_id": "C1843371", "aliases": [], "types": ["T033"], "canonical_name": "Low cholesterol esterification rate", "definition": "A reduction in the rate of cholesterol esterification. [HPO:probinson, PMID:3378364]"} {"concept_id": "C1843386", "aliases": ["Impaired delayed hypersensitivity", "Decreased reactivity to skin test antigens", "Deficiency of delayed skin hypersensitivity"], "types": ["T033"], "canonical_name": "Reduced delayed hypersensitivity", "definition": "Decreased ability to react to a delayed hypersensitivity skin test. [HPO:probinson]"} {"concept_id": "C1843389", "aliases": [], "types": ["T033"], "canonical_name": "Accumulation of melanosomes in melanocytes"} {"concept_id": "C1843390", "aliases": [], "types": ["T033"], "canonical_name": "Melanin pigment aggregation in hair shafts"} {"concept_id": "C1843392", "aliases": ["Death in childhood"], "types": ["T033"], "canonical_name": "Death in childhood", "definition": "Death in during childhood, defined here as between the ages of 2 and 10 years. [HPO:probinson]"} {"concept_id": "C1843428", "aliases": [], "types": ["T033"], "canonical_name": "Diffuse reticular or finely nodular infiltrations"} {"concept_id": "C1843479", "aliases": [], "types": ["T033"], "canonical_name": "Neurogenic muscle atrophy, especially in the lower limbs"} {"concept_id": "C1843486", "aliases": [], "types": ["T047"], "canonical_name": "Degenerative vitreoretinopathy"} {"concept_id": "C1843495", "aliases": [], "types": ["T019"], "canonical_name": "Ethmoidal encephalocele"} {"concept_id": "C1843496", "aliases": ["Bilateral microphthalmos"], "types": ["T019"], "definition": "A congenital abnormality characterized by the presence of two abnormally small eye globes.", "canonical_name": "Microphthalmia, bilateral"} {"concept_id": "C1843505", "aliases": ["Loss of spinal cord anterior horn cells", "Degeneration of spinal cord anterior horn cells", "Spinal cord anterior horn cell degeneration", "Anterior horn cell loss", "Progressive loss of anterior horn cells", "Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord"], "types": ["T033"], "canonical_name": "Degeneration of anterior horn cells"} {"concept_id": "C1843507", "aliases": ["Underdeveloped ventral pons"], "types": ["T033"], "canonical_name": "Hypoplasia of the ventral pons", "definition": "Underdevelopment of the ventral portion of the pons. [HPO:probinson]"} {"concept_id": "C1843637", "aliases": ["Neck flexion weakness", "Neck flexor muscle weakness"], "types": ["T033"], "canonical_name": "Neck flexor weakness", "definition": "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). [HPO:curators]"} {"concept_id": "C1843643", "aliases": ["Nocturnal under breathing", "Hypoventilation during sleep", "Nocturnal slow breathing", "Nocturnal hypopnea"], "types": ["T033"], "canonical_name": "Nocturnal hypoventilation", "definition": "An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide. [PMID:20308760]"} {"concept_id": "C1843663", "aliases": ["Sphincter disturbances", "Sphincter disturbance"], "types": ["T033"], "canonical_name": "Urinary bladder sphincter dysfunction", "definition": "Abnormal function of a sphincter of the urinary bladder. [HPO:probinson]"} {"concept_id": "C1843677", "aliases": ["Big sella turcica", "Enlarged sella turcica", "Hyperplasia of sella turcica", "Prominent sella turcica"], "types": ["T033"], "canonical_name": "Large sella turcica", "definition": "An abnormal enlargement of the sella turcica. [HPO:probinson]"} {"concept_id": "C1843697", "aliases": [], "types": ["T033"], "canonical_name": "Axial muscle weakness", "definition": "Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). [HPO:curators]"} {"concept_id": "C1843700", "aliases": ["Increased variation in muscle fibre size", "Increased variability in muscle fibre diameter", "Increased variability in muscle fibre size", "Variation in muscle fiber size", "Increased variation in muscle fiber size", "Increased fiber size variation", "Increased variation in fibre size", "Variation in muscle fibre size", "Increased variation in fiber size", "Increased variability in muscle fiber size", "Increased fibre size variation"], "types": ["T033"], "canonical_name": "Increased variability in muscle fiber diameter", "definition": "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. [HPO:curators]"} {"concept_id": "C1843793", "aliases": [], "types": ["T033"], "canonical_name": "Progressive language deterioration", "definition": "Progressive loss of previously present language abilities. [HPO:probinson]"} {"concept_id": "C1843858", "aliases": ["Atrophic and degenerative changes in the spinal cord"], "types": ["T033"], "canonical_name": "Atrophy/Degeneration involving the spinal cord"} {"concept_id": "C1843859", "aliases": [], "types": ["T033"], "canonical_name": "Sensory ataxic neuropathy"} {"concept_id": "C1843865", "aliases": ["Impaired vestibular function", "Vestibular function defect", "Interictal vestibular dysfunction"], "types": ["T033"], "canonical_name": "Vestibular dysfunction", "definition": "An abnormality of the functioning of the vestibular apparatus. [HPO:probinson]"} {"concept_id": "C1843885", "aliases": ["Gait ataxia, progressive"], "types": ["T033"], "canonical_name": "Progressive gait ataxia", "definition": "A type of gait ataxia displaying progression of clinical severity. [HPO:probinson]"} {"concept_id": "C1843892", "aliases": [], "types": ["T033"], "canonical_name": "Microsaccadic pursuit"} {"concept_id": "C1843893", "aliases": [], "types": ["T033"], "canonical_name": "Square-wave jerks", "definition": "Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion. [PMID:6443573]"} {"concept_id": "C1843921", "aliases": ["Balance impairment"], "types": ["T033"], "definition": "A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. [PMID:25613349]", "canonical_name": "Postural instability"} {"concept_id": "C1843983", "aliases": [], "types": ["T033"], "canonical_name": "Trapezoidal distal femoral condyles"} {"concept_id": "C1843985", "aliases": [], "types": ["T033"], "canonical_name": "Shortening of the talar neck"} {"concept_id": "C1843986", "aliases": [], "types": ["T033"], "canonical_name": "Flattening of the talar dome"} {"concept_id": "C1843995", "aliases": [], "types": ["T047"], "canonical_name": "Enteroviral hepatitis", "definition": "Inflammation of the liver due to infection with enterovirus. [PMID:15056237]"} {"concept_id": "C1844007", "aliases": [], "types": ["T033"], "canonical_name": "Corticospinal tract hypoplasia"} {"concept_id": "C1844374", "aliases": ["Excessive bleeding after minor trauma", "Frequent bleeding with trauma", "Prolonged bleeding after minor trauma"], "types": ["T033"], "canonical_name": "Persistent bleeding after trauma"} {"concept_id": "C1844383", "aliases": ["Frequent pyogenic infections", "Frequent bacterial infections", "Bacterial infections, recurrent", "Recurrent major bacterial infections", "Recurrent pyogenic infections"], "types": ["T033"], "definition": "Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. [HPO:probinson]", "canonical_name": "Recurrent bacterial infections"} {"concept_id": "C1844384", "aliases": ["Recurrent fungal infections"], "types": ["T047"], "canonical_name": "Recurrent fungal infections", "definition": "The reemergence of a fungal infection after a period of remission."} {"concept_id": "C1844385", "aliases": [], "types": ["T033"], "canonical_name": "Absence of bactericidal oxidative respiratory burst in phagocytes", "definition": "An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. [GO:0045728]"} {"concept_id": "C1844390", "aliases": ["Deficiency or absence of cytochrome b"], "types": ["T033"], "canonical_name": "Deficiency or absence of cytochrome b(-245)"} {"concept_id": "C1844394", "aliases": [], "types": ["T033"], "canonical_name": "Decreased activity of NADPH oxidase"} {"concept_id": "C1844505", "aliases": ["Small pointed chin", "Pointy chin", "Pointed chin", "Witch's chin", "Pointed mention region"], "types": ["T033"], "canonical_name": "Pointed chin", "definition": "A marked tapering of the lower face to the chin. [PMID:19125436]"} {"concept_id": "C1844508", "aliases": ["Dilation of foramen magnum", "Big foramen magnum", "Enlarged foramen magnum", "Wide foramen magnum"], "types": ["T033"], "canonical_name": "Large foramen magnum", "definition": "An abnormal increase in the size of the foramen magnum. [HPO:curators]"} {"concept_id": "C1844509", "aliases": ["Deep antegonial notch of mandible", "Large antegonial notch of mandible"], "types": ["T033"], "canonical_name": "Antegonial notching of mandible"} {"concept_id": "C1844512", "aliases": [], "types": ["T033"], "canonical_name": "Anteriorly placed odontoid process", "definition": "Anterior mislocalization of the dens of the axis. [HPO:probinson]"} {"concept_id": "C1844516", "aliases": ["Increased density of shaft of long bone"], "types": ["T033"], "canonical_name": "Increased density of long bone diaphyses"} {"concept_id": "C1844519", "aliases": [], "types": ["T033"], "canonical_name": "Partial fusion of carpals"} {"concept_id": "C1844520", "aliases": [], "types": ["T033"], "canonical_name": "Partial fusion of tarsals"} {"concept_id": "C1844527", "aliases": ["Clitoral hypoplasia", "Underdeveloped clit", "Small clitoris"], "types": ["T033"], "definition": "Developmental hypoplasia of the clitoris. [HPO:probinson]", "canonical_name": "Hypoplastic clitoris"} {"concept_id": "C1844529", "aliases": ["Missing middle part of collarbone"], "types": ["T033"], "canonical_name": "Midclavicular aplasia", "definition": "Developmental defect resulting in congenital absence of the middle portion of the clavicle. [HPO:probinson]"} {"concept_id": "C1844530", "aliases": ["Underdeveloped middle portion of the collarbone"], "types": ["T033"], "canonical_name": "Midclavicular hypoplasia", "definition": "Underdevelopment of the middle portion of the clavicle. [HPO:probinson]"} {"concept_id": "C1844537", "aliases": ["Notched nasal alae", "Cleft nasal alae", "Cleft ala nasi", "Alar clefts", "Cleft nostril"], "types": ["T033"], "definition": "The presence of a notch in the margin of the ala nasi. [HPO:probinson, PMID:19152422]", "canonical_name": "Ala nasi, cleft"} {"concept_id": "C1844548", "aliases": ["Short finger", "Hypoplastic/small fingers", "Hypoplastic digits"], "types": ["T190"], "definition": "Abnormally short finger associated with developmental hypoplasia. [HPO:probinson]", "canonical_name": "Hypoplastic fingers"} {"concept_id": "C1844554", "aliases": ["Absent fingernail", "Aplasia of the fingernail", "Anonychia of fingernails"], "types": ["T019"], "canonical_name": "Absent fingernail", "definition": "Absence of a fingernail. [HPO:probinson]"} {"concept_id": "C1844555", "aliases": ["Anonychia of toenails", "Absent toenail", "Absent toenails (anonychia)", "Absent toenails"], "types": ["T019"], "canonical_name": "Absent toenail", "definition": "Congenital absence of the toenail. [HPO:probinson]"} {"concept_id": "C1844562", "aliases": ["Medially flared eyebrows"], "types": ["T033"], "canonical_name": "Medial flaring of the eyebrow", "definition": "An abnormal distribution of eyebrow hair growth in the medial direction. [HPO:probinson]"} {"concept_id": "C1844571", "aliases": [], "types": ["T033"], "canonical_name": "Increased upper to lower segment ratio", "definition": "Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. [HPO:probinson]"} {"concept_id": "C1844572", "aliases": [], "types": ["T033"], "canonical_name": "Curved linear dimple below the lower lip"} {"concept_id": "C1844573", "aliases": ["Fleshy earlobe", "Large earlobe", "prominent ear lobules", "Fleshy earlobes", "Prominent ear lobes"], "types": ["T033"], "canonical_name": "Large earlobe", "definition": "Increased volume of the earlobe, that is, abnormally prominent ear lobules. [HPO:probinson, PMID:19152421]"} {"concept_id": "C1844577", "aliases": ["Finger joint hyperextensibility", "Hyperextensible finger", "Hyperextensible digits", "Hyperextensible fingers"], "types": ["T033"], "canonical_name": "Hyperextensibility of the finger joints", "definition": "The ability of the finger joints to move beyond their normal range of motion. [HPO:curators]"} {"concept_id": "C1844592", "aliases": ["Soft skin"], "types": ["T033"], "canonical_name": "Soft skin", "definition": "Subjective impression of increased softness upon palpation of the skin. [HPO:probinson]"} {"concept_id": "C1844597", "aliases": ["Molluscoid pseudotumor"], "types": ["T047"], "canonical_name": "Molluscoid pseudotumors", "definition": "Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. [HPO:probinson]"} {"concept_id": "C1844605", "aliases": ["Wrinkles around the eyes", "Excess periorbital skin wrinkling", "Periorbital wrinkling", "Periorbital rhytids"], "types": ["T033"], "canonical_name": "Periorbital wrinkles"} {"concept_id": "C1844606", "aliases": ["Periorbital melanosis", "Pigmentation around the eyes", "Dark circles under the eyes", "Darkening around the eyes", "Dark circles around the eyes", "Idiopathic cutaneous hyperchromia at the orbital region", "Infraorbital pigmentation"], "types": ["T033"], "canonical_name": "Periorbital hyperpigmentation", "definition": "Increased pigmentation of the skin in the region surrounding the orbit of the eye. [HPO:probinson]"} {"concept_id": "C1844617", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic-absent sebaceous glands"} {"concept_id": "C1844618", "aliases": ["Hypoplastic-absent eccrine sweat glands"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplastia of the eccrine sweat glands", "definition": "Absence or developmental hypoplasia of the eccrine sweat glands. [HPO:probinson]"} {"concept_id": "C1844632", "aliases": [], "types": ["T033"], "canonical_name": "Anal mucosal leukoplakia", "definition": "Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation. [HPO:probinson, PMID:13316552]"} {"concept_id": "C1844662", "aliases": ["Unexplained fevers"], "types": ["T033"], "canonical_name": "Unexplained fevers", "definition": "Episodes of fever for which no infectious cause can be identified. [HPO:curators]"} {"concept_id": "C1844666", "aliases": ["Immune dysregulation", "Unregulated immune response"], "types": ["T033"], "canonical_name": "Immune dysregulation", "definition": "Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. [PMID:26233425]"} {"concept_id": "C1844689", "aliases": ["Pelvic exostoses"], "types": ["T191"], "canonical_name": "Pelvic bone exostoses", "definition": "A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage. [HPO:probinson]"} {"concept_id": "C1844690", "aliases": ["Limited knee extension"], "types": ["T033"], "canonical_name": "Limited knee extension", "definition": "Reduced ability to extend (straighten) the knee joint. []"} {"concept_id": "C1844702", "aliases": [], "types": ["T033"], "canonical_name": "Vertical clivus", "definition": "An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum). [HPO:curators]"} {"concept_id": "C1844704", "aliases": ["Flat vertebral bodies", "Flattened vertebrae", "Flattened vertebral bodies"], "types": ["T033"], "canonical_name": "Platyspondyly", "definition": "A flattened vertebral body shape with reduced distance between the vertebral endplates. [HPO:probinson]"} {"concept_id": "C1844706", "aliases": ["Small to absent calf bone", "Rudimentary to absent fibulae", "Small to absent fibula"], "types": ["T033"], "canonical_name": "Rudimentary fibula", "definition": "Absent or nearly absent fibula. (Does not include aplastic) []"} {"concept_id": "C1844709", "aliases": ["Radially deviated index finger"], "types": ["T033"], "canonical_name": "Radial deviation of the 2nd finger", "definition": "Displacement of the 2nd finger towards the radial side. [HPO:curators]"} {"concept_id": "C1844712", "aliases": [], "types": ["T033"], "canonical_name": "Nonossified fifth metatarsal", "definition": "The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible. [HPO:probinson]"} {"concept_id": "C1844722", "aliases": ["One underdeveloped breast"], "types": ["T033"], "canonical_name": "Unilateral breast hypoplasia", "definition": "Underdevelopment of the breast on one side only. [HPO:probinson]"} {"concept_id": "C1844731", "aliases": ["Hypoplasia of tip of nose", "Underdevelopment of nasal tip", "Small nasal tip", "Decreased size of tip of nose", "Underdevelopment of tip of nose", "Deficient nasal tip", "Small tip of nose", "Decreased size of nasal tip"], "types": ["T033"], "canonical_name": "Hypoplastic nasal tip"} {"concept_id": "C1844734", "aliases": ["Asymmetric leg shortening", "Asymmetric lower limb shortness"], "types": ["T033"], "canonical_name": "Hemihypotrophy of lower limb", "definition": "Shortening of a leg affecting only one side. [HPO:curators]"} {"concept_id": "C1844738", "aliases": ["Axillary pterygia"], "types": ["T033"], "canonical_name": "Axillary pterygium", "definition": "Presence of a cutaneous membrane (flap) in the armpit. []"} {"concept_id": "C1844751", "aliases": [], "types": ["T033"], "canonical_name": "Chorioretinal lacunae", "definition": "Punched out lesions in the pigmented layer of the retina. [HPO:probinson]"} {"concept_id": "C1844753", "aliases": [], "types": ["T019"], "canonical_name": "Block vertebrae", "definition": "Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). [HPO:probinson]"} {"concept_id": "C1844806", "aliases": [], "types": ["T033"], "canonical_name": "Weight less than 3rd percentile"} {"concept_id": "C1844809", "aliases": ["Thickening of the alae nasi", "Ala nasi, thick"], "types": ["T033"], "canonical_name": "Thick nasal alae", "definition": "Increase in bulk of the ala nasi. [PMID:19152422]"} {"concept_id": "C1844810", "aliases": ["Thick septum of nose", "Wide septum of nose", "Thick nasal septum", "Broad septum of nose", "Broad nasal septum", "Wide nasal septum"], "types": ["T033"], "canonical_name": "Thick nasal septum", "definition": "Abnormally increased thickness of the nasal septum. [HPO:curators]"} {"concept_id": "C1844813", "aliases": ["Generalised spacing of teeth", "Widely-spaced teeth", "Generalized spacing of teeth", "Generalized dental spacing", "Wide-spaced teeth", "Generalised dental spacing", "Widely spaced teeth", "Multiple diastemata"], "types": ["T033"], "canonical_name": "Widely spaced teeth", "definition": "Increased spaces (diastemata) between most of the teeth in the same dental arch. [PMID:19125428]"} {"concept_id": "C1844818", "aliases": ["Lumbar gibbus deformity", "Rounded lower back"], "types": ["T033"], "canonical_name": "Lumbar kyphosis", "definition": "Over curvature of the lumbar region. [HPO:probinson]"} {"concept_id": "C1844820", "aliases": ["Increased joint mobility", "Joint hypermobility", "Joint hyperextensibility", "Hyperextensible joints", "Extensible joints", "Flexible joints", "Increased mobility of joints"], "types": ["T033"], "definition": "The ability of a joint to move beyond its normal range of motion. [HPO:probinson]", "canonical_name": "Double-Jointed"} {"concept_id": "C1844822", "aliases": ["Drumstick shaped digital bones"], "types": ["T033"], "canonical_name": "Drumstick terminal phalanges", "definition": "Rounding and broadening of the tufts of the distal phalanges. [HPO:probinson]"} {"concept_id": "C1844825", "aliases": ["Tubular fingernails"], "types": ["T033"], "canonical_name": "Hyperconvex fingernails", "definition": "When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. [HPO:probinson, PMID:19125433]"} {"concept_id": "C1844846", "aliases": ["Punctate calcifications of carpals"], "types": ["T033"], "canonical_name": "Stippled calcification in carpal bones", "definition": "Point-shaped (punctate) calcifications affecting the carpal bones. [HPO:curators]"} {"concept_id": "C1844848", "aliases": ["Punctate tarsal calcification", "Punctate calcifications of tarsals"], "types": ["T033"], "canonical_name": "Tarsal stippling", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones. [HPO:probinson]"} {"concept_id": "C1844857", "aliases": ["Short septum of nose", "Short nasal septum", "Decreased length of nasal septum", "Decreased length of septum of nose"], "types": ["T033"], "canonical_name": "Short nasal septum", "definition": "Reduced superior to inferior length of the nasal septum. [HPO:probinson]"} {"concept_id": "C1844891", "aliases": ["Second finger ulnar deviation", "Medially deviated index finger", "Ulnar deviation of index fingers", "Ulnar angulation of the index finger"], "types": ["T033"], "canonical_name": "Ulnar deviation of the 2nd finger", "definition": "Displacement of the 2nd (index) finger towards the ulnar side. [HPO:curators]"} {"concept_id": "C1844906", "aliases": ["Broad finger", "Wide fingers", "Broad fingers"], "types": ["T033"], "canonical_name": "Broad finger", "definition": "Increased width of a non-thumb digit of the hand. [PMID:19125433]"} {"concept_id": "C1844909", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent infections in infancy and early childhood", "definition": "Recurrent infections at an early age with improvement in later childhood. [HPO:probinson]"} {"concept_id": "C1844917", "aliases": [], "types": ["T047"], "canonical_name": "Intermittent lactic acidemia", "definition": "An intermittent (discontinuous) form of lactic acidemia. [HPO:probinson]"} {"concept_id": "C1844923", "aliases": ["Hypoplastic prostate", "Underdeveloped prostate"], "types": ["T033"], "canonical_name": "Hypoplasia of the prostate"} {"concept_id": "C1844925", "aliases": ["Narrow cervical spinal canal"], "types": ["T033"], "canonical_name": "Cervical spinal canal stenosis", "definition": "An abnormal narrowing of the cervical spinal canal. [HPO:probinson]"} {"concept_id": "C1844926", "aliases": [], "types": ["T033"], "canonical_name": "Scheuermann-like vertebral changes"} {"concept_id": "C1844945", "aliases": ["Episodic difficulty breathing", "respiratory distress, episodic"], "types": ["T033"], "canonical_name": "Episodic respiratory distress"} {"concept_id": "C1844946", "aliases": ["Episodic under breathing", "Episodic slow breathing"], "types": ["T033"], "canonical_name": "Episodic hypoventilation"} {"concept_id": "C1844947", "aliases": [], "types": ["T033"], "canonical_name": "Death in early childhood"} {"concept_id": "C1845029", "aliases": [], "types": ["T033"], "canonical_name": "Nonprogressive cerebellar ataxia"} {"concept_id": "C1845107", "aliases": ["Heavy brow of the face", "Heavy supraorbital ridge"], "types": ["T033"], "canonical_name": "Heavy supraorbital ridges"} {"concept_id": "C1845108", "aliases": ["Prominent medial palatal suture", "Prominent central ridge on roof of the mouth", "Prominent central palatal ridge"], "types": ["T033"], "canonical_name": "Prominent median palatal raphe", "definition": "Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate. [HPO:curators]"} {"concept_id": "C1845109", "aliases": ["Exaggerated median lingual furrow", "Deep median lingual furrow", "Deep median lingual groove", "Deep central lingual furrow", "Deep central tongue furrow", "Deep median tongue groove", "Deep central tongue groove", "Deep central lingual groove", "Deep median tongue furrow"], "types": ["T033"], "canonical_name": "Exaggerated median tongue furrow", "definition": "Increased depth of the median tongue furrow. [HPO:probinson]"} {"concept_id": "C1845110", "aliases": [], "types": ["T033"], "canonical_name": "Central incisor gap"} {"concept_id": "C1845111", "aliases": ["Decreased width of upper lateral incisor"], "types": ["T033"], "canonical_name": "Maxillary lateral incisor microdontia", "definition": "Decreased size of the maxillary permanent incisor. [HPO:ibailleulforestier]"} {"concept_id": "C1845123", "aliases": ["Hypotonia, neonatal, generalised", "Generalised low muscle tone in neonate", "Generalised neonatal hypotonia", "Generalized low muscle tone in neonate", "Hypotonia, neonatal, generalized"], "types": ["T033"], "canonical_name": "Generalized neonatal hypotonia", "definition": "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. [HPO:probinson]"} {"concept_id": "C1845147", "aliases": ["Hypoplastic frontal bones", "Decreased size of bone of forehead", "Small bone of forehead", "Underdevelopment of bone of forehead"], "types": ["T033"], "canonical_name": "Hypoplasia of the frontal bone", "definition": "Underdevelopment of the frontal bone. [HPO:probinson]"} {"concept_id": "C1845155", "aliases": [], "types": ["T033"], "canonical_name": "Exercise-induced myoglobinuria", "definition": "Presence of myoglobin in the urine following exercise. [HPO:probinson]"} {"concept_id": "C1845169", "aliases": ["Tubular phosphate reabsorption low", "Decreased renal tubular phosphate reabsorption", "Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate"], "types": ["T033"], "canonical_name": "Renal phosphate wasting", "definition": "High urine phosphate in the presence of hypophosphatemia. [HPO:probinson]"} {"concept_id": "C1845206", "aliases": ["Decreased plasma renin activity", "Low plasma renin activity", "Suppressed plasma renin activity"], "types": ["T033"], "canonical_name": "Decreased circulating renin level", "definition": "An decreased level of renin in the blood. [HPO:probinson]"} {"concept_id": "C1845245", "aliases": [], "types": ["T033"], "canonical_name": "Lower limb hypertonia"} {"concept_id": "C1845250", "aliases": ["Decreased size of forehead", "Decreased size of frontal region of face", "Small forehead"], "types": ["T033"], "canonical_name": "Small forehead", "definition": "The presence of a forehead that is abnormally small. [HPO:curators]"} {"concept_id": "C1845251", "aliases": ["Low facial muscle tone", "Reduced facial muscle tone", "Decreased facial muscle tone"], "types": ["T033"], "canonical_name": "Facial hypotonia", "definition": "Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). [HPO:probinson]"} {"concept_id": "C1845272", "aliases": [], "types": ["T033"], "canonical_name": "Prominent antihelix", "definition": "The presence of an abnormally prominent antihelix. [HPO:probinson]"} {"concept_id": "C1845274", "aliases": ["Disconjugate eye movements"], "types": ["T033"], "canonical_name": "Abnormal conjugate eye movement", "definition": "Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. [HPO:probinson]"} {"concept_id": "C1845337", "aliases": ["Lack of peer relationships"], "types": ["T033"], "canonical_name": "Lack of peer relationships"} {"concept_id": "C1845369", "aliases": ["Disorganisation of the anterior cerebellar vermis"], "types": ["T033"], "canonical_name": "Disorganization of the anterior cerebellar vermis"} {"concept_id": "C1845370", "aliases": [], "types": ["T033"], "canonical_name": "Retrocerebellar cyst"} {"concept_id": "C1845447", "aliases": ["Cupped ear", "Simple, cup-shaped ears", "Cupped ears"], "types": ["T019"], "definition": "Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). [HPO:probinson, PMID:19162421, PMID:22073081]", "canonical_name": "Cup-shaped ears"} {"concept_id": "C1845576", "aliases": ["Small chest on one side", "Underdeveloped chest on one side"], "types": ["T033"], "canonical_name": "Unilateral chest hypoplasia"} {"concept_id": "C1845604", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent bacterial meningitis", "definition": "An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis. [HPO:probinson]"} {"concept_id": "C1845668", "aliases": [], "types": ["T047"], "definition": "A type of perisylvian polymicrogyria that affects both sides of the brain. [COST:neuromig, PMID:20301504]", "canonical_name": "Bilateral perisylvian polymicrogyria"} {"concept_id": "C1845805", "aliases": [], "types": ["T033"], "canonical_name": "Cranial sclerosis"} {"concept_id": "C1845847", "aliases": ["Rounded and heavy facial features", "Coarse facial features", "Coarse facies", "Coarse facial appearance"], "types": ["T033"], "definition": "Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. [PMID:19125436]", "canonical_name": "Coarse face"} {"concept_id": "C1845864", "aliases": [], "types": ["T033"], "canonical_name": "Poor hand-eye coordination"} {"concept_id": "C1845878", "aliases": ["Variability of spacing between teeth", "Irregular dental spacing", "Variability of dental spacing", "Irregularly spaced teeth"], "types": ["T033"], "canonical_name": "Irregularly spaced teeth", "definition": "Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth. [HPO:ibailleulforestier]"} {"concept_id": "C1845977", "aliases": ["X-linked recessive inheritance"], "types": ["T033"], "definition": "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. [HPO:curators]", "canonical_name": "X-linked recessive"} {"concept_id": "C1846011", "aliases": ["Boxer-like facial appearance", "Pugilistic facial appearance"], "types": ["T033"], "canonical_name": "Pugilistic facies", "definition": "Coarse facial features reminiscent of those of a boxer. [HPO:probinson]"} {"concept_id": "C1846013", "aliases": [], "types": ["T033"], "canonical_name": "Marked muscular hypertrophy", "definition": "Severe hypertrophy (increase in size) of muscle cells. [HPO:curators]"} {"concept_id": "C1846017", "aliases": [], "types": ["T033"], "canonical_name": "Progressive pes cavus", "definition": "The development of Pes cavus that is progressive with age. [HPO:probinson]"} {"concept_id": "C1846034", "aliases": ["Euthyroid multinodular goitre"], "types": ["T047"], "canonical_name": "Euthyroid multinodular goiter"} {"concept_id": "C1846061", "aliases": ["Short-trunk dwarfism, identifiable in infancy"], "types": ["T033"], "canonical_name": "Infancy onset short-trunk short stature", "definition": "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy. [HPO:probinson]"} {"concept_id": "C1846131", "aliases": ["Photically induced tonic-clonic seizure", "Photosensitive tonic-clonic seizures", "Seizures, tonic-clonic, photosensitive"], "types": ["T047"], "canonical_name": "Photosensitive tonic-clonic seizure", "definition": "Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. [HPO:probinson, PMID:28276060]"} {"concept_id": "C1846133", "aliases": ["Loss of ability to walk in first decade"], "types": ["T033"], "canonical_name": "Loss of ability to walk in first decade"} {"concept_id": "C1846149", "aliases": ["Intellectual disability, progressive", "Progressive mental retardation", "Mental retardation, progressive"], "types": ["T048"], "canonical_name": "Intellectual disability, progressive", "definition": "The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time. [HPO:probinson]"} {"concept_id": "C1846151", "aliases": ["Enlarged subarachnoid space", "Widened subarachnoid spaces"], "types": ["T033"], "canonical_name": "Widened subarachnoid space", "definition": "An increase in size of the anatomic space between the arachnoid membrane and pia mater. [HPO:probinson]"} {"concept_id": "C1846154", "aliases": ["Anteriorly splayed ribs", "Anterior cupping of ribs"], "types": ["T033"], "canonical_name": "Anterior rib cupping", "definition": "Wide, concave anterior rib end. [HPO:probinson]"} {"concept_id": "C1846157", "aliases": ["Cone-shaped end part of innermost thighbone"], "types": ["T033"], "canonical_name": "Cone-shaped capital femoral epiphysis", "definition": "A cone-shaped deformity of the proximal epiphysis of the femur. [HPO:probinson]"} {"concept_id": "C1846160", "aliases": [], "types": ["T033"], "canonical_name": "Peg-like central prominence of distal tibial metaphyses"} {"concept_id": "C1846176", "aliases": [], "types": ["T033"], "canonical_name": "Hyperactive deep tendon reflexes"} {"concept_id": "C1846223", "aliases": ["Adrenal gland hypoplasia", "Underdeveloped adrenal glands", "Hypoplastic adrenal glands"], "types": ["T046"], "canonical_name": "Adrenal hypoplasia", "definition": "Developmental hypoplasia of the adrenal glands. [HPO:probinson]"} {"concept_id": "C1846226", "aliases": [], "types": ["T033"], "canonical_name": "Mineralocorticoid insufficiency"} {"concept_id": "C1846228", "aliases": [], "types": ["T033"], "canonical_name": "Absence of pubertal development"} {"concept_id": "C1846266", "aliases": [], "types": ["T033"], "canonical_name": "Laterally curved eyebrow"} {"concept_id": "C1846288", "aliases": ["Hypoglycemic episodes", "Recurrent hypoglycemic episodes", "Recurrent hypoglycaemia", "hypoglycemia, recurrent", "Recurrent hypoglycemia", "Recurrent low blood sugar levels"], "types": ["T033"], "definition": "Recurrent episodes of decreased concentration of glucose in the blood. [HPO:gcarletti]", "canonical_name": "hypoglycaemia, recurrent"} {"concept_id": "C1846339", "aliases": ["Externally rotated hips"], "types": ["T033"], "canonical_name": "Externally rotated hips"} {"concept_id": "C1846345", "aliases": [], "types": ["T033"], "canonical_name": "Hyperactive renin-angiotensin system", "definition": "An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. [HPO:probinson]"} {"concept_id": "C1846347", "aliases": ["Salt-wasting", "Loss of salt in urine", "Renal salt-wasting", "Salt wasting"], "types": ["T033"], "canonical_name": "Renal salt wasting", "definition": "A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). [Eurenomics:fschaefer]"} {"concept_id": "C1846348", "aliases": ["Renal K wasting"], "types": ["T033"], "canonical_name": "Renal potassium wasting", "definition": "High urine potassium in the presence of hypokalemia. [HPO:probinson]"} {"concept_id": "C1846349", "aliases": ["Impaired reabsorption of Cl", "Impaired reabsorption of Cl-"], "types": ["T033"], "canonical_name": "Impaired reabsorption of chloride", "definition": "Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine. [PMID:25820368]"} {"concept_id": "C1846351", "aliases": ["Hyperkaliuresis", "Increased urinary K", "Increased urinary potassium"], "types": ["T033"], "canonical_name": "Increased urinary potassium", "definition": "An increased concentration of potassium(1+) in the urine. [HPO:probinson]"} {"concept_id": "C1846352", "aliases": ["Increased urinary chloride"], "types": ["T033"], "canonical_name": "Hyperchloriduria", "definition": "An increased concentration of chloride in the urine. [HPO:probinson]"} {"concept_id": "C1846385", "aliases": [], "types": ["T019"], "definition": "A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities. [COST:neuromig, PMID:21219302]", "canonical_name": "Focal cortical dysplasia type II"} {"concept_id": "C1846422", "aliases": ["Gallbladder duplication", "Bilobate gallbladder", "Double gallbladder"], "types": ["T019"], "definition": "The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium. [HPO:probinson, PMID:14571173, PMID:16553121, PMID:21170223]", "canonical_name": "Bilobed gallbladder"} {"concept_id": "C1846423", "aliases": ["Thick upper lip", "Plump upper lip", "Thick upper lip vermilion", "Increased volume of upper lip", "Full upper lip vermilion", "Prominent upper lip", "Increased volume of upper lip vermilion", "Thick vermilion border of upper lip", "Full upper lip", "Increased height of upper lip vermilion", "Prominent upper lip vermilion"], "types": ["T033"], "definition": "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). [PMID:19125428]", "canonical_name": "Thick red part of the upper lip"} {"concept_id": "C1846433", "aliases": ["Prominent sternum", "Sternal protrusion"], "types": ["T033"], "canonical_name": "Prominent sternum"} {"concept_id": "C1846434", "aliases": ["Small scapulae", "Hypoplastic scapulae", "Short scapulae", "Scapular hypoplasia", "Small scapula", "Hypoplastic scapula"], "types": ["T033"], "definition": "Underdeveloped scapula. [HPO:probinson]", "canonical_name": "Small shoulder blade"} {"concept_id": "C1846435", "aliases": ["Short-trunked dwarfism", "Disproportionate short-trunked short stature", "Disproportionate short-trunked dwarfism"], "types": ["T033"], "canonical_name": "Disproportionate short-trunk short stature", "definition": "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. [HPO:probinson]"} {"concept_id": "C1846437", "aliases": ["Abnormal shape of hypophysial fossa", "Abnormal shape of pituitary fossa", "Deformity of pituitary fossa", "Abnormal shape of sella turcica", "Deformity of hypophysial fossa", "Malformation of sella turcica", "Malformation of pituitary fossa", "Malformation of hypophysial fossa"], "types": ["T033"], "canonical_name": "Deformed sella turcica"} {"concept_id": "C1846438", "aliases": ["Hypoplasia of facial skeleton"], "types": ["T033"], "canonical_name": "Hypoplastic facial bones"} {"concept_id": "C1846439", "aliases": ["Odontoid hypoplasia", "Small odontoid peg", "Small odontoid process", "Hypoplastic odontoid process"], "types": ["T033"], "canonical_name": "Hypoplasia of the odontoid process", "definition": "An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations."} {"concept_id": "C1846442", "aliases": ["Hypoplastic acetabula", "Acetabular hypoplasia"], "types": ["T033"], "canonical_name": "Hypoplastic acetabulae", "definition": "Underdeveloped acetabulae. [HPO:probinson]"} {"concept_id": "C1846446", "aliases": [], "types": ["T033"], "canonical_name": "Delayed femoral head ossification", "definition": "Delayed ossification of the femoral head. [HPO:probinson]"} {"concept_id": "C1846447", "aliases": [], "types": ["T033"], "canonical_name": "Multicentric femoral head ossification", "definition": "There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers. [HPO:probinson]"} {"concept_id": "C1846449", "aliases": ["Irregular end part of long bone"], "types": ["T033"], "canonical_name": "Irregular epiphyses", "definition": "An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. [HPO:probinson]"} {"concept_id": "C1846459", "aliases": [], "types": ["T033"], "canonical_name": "Slit-like opening of the exterior auditory meatus", "definition": "A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit. [PMID:12843316]"} {"concept_id": "C1846460", "aliases": ["External ear malformations", "Abnormality of the outer ear", "Abnormal pinnae", "Abnormality of the auricle", "Malformed pinnae", "External ear malformation", "Abnormality of the external ear"], "types": ["T190"], "definition": "A malformation of the auricle of the ear. [HPO:probinson]", "canonical_name": "Outer ear abnormality"} {"concept_id": "C1846462", "aliases": [], "types": ["T033"], "canonical_name": "Impaired ocular abduction", "definition": "An impaired ability of the eye to move in the outward direction (towards the side of the head). [HPO:probinson]"} {"concept_id": "C1846463", "aliases": [], "types": ["T033"], "canonical_name": "Impaired ocular adduction", "definition": "Reduced ability to move the eye in the direction of the nose. [HPO:probinson]"} {"concept_id": "C1846464", "aliases": [], "types": ["T033"], "canonical_name": "Globe retraction and deviation on adduction"} {"concept_id": "C1846465", "aliases": [], "types": ["T033"], "canonical_name": "Palpebral fissure narrowing on adduction"} {"concept_id": "C1846473", "aliases": ["Absent long bone of hand", "Absent metacarpals", "Absent metacarpal"], "types": ["T033"], "canonical_name": "Aplasia of metacarpal bones", "definition": "Developmental defect associated with absence of one or more metacarpal bones. [HPO:probinson]"} {"concept_id": "C1846474", "aliases": ["Hypoplastic thenar eminences", "Decreased thenar eminence", "Thenar muscle hypoplasia", "Thenar hypoplasia"], "types": ["T033"], "canonical_name": "Small thenar eminence", "definition": "Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. [HPO:probinson, PMID:19125433]"} {"concept_id": "C1846477", "aliases": ["Small pec muscle", "Underdeveloped pec muscle", "Hypoplastic pectoral muscle"], "types": ["T033"], "canonical_name": "Pectoralis hypoplasia", "definition": "Underdevelopment of the pectoral muscle. [HPO:probinson]"} {"concept_id": "C1846478", "aliases": ["Underdevelopment of upper limb muscles"], "types": ["T033"], "canonical_name": "Upper limb muscle hypoplasia", "definition": "Underdevelopment of muscles of the arm. [HPO:curators]"} {"concept_id": "C1846546", "aliases": ["Chronic sinopulmonary infection", "Recurrent sinus and lung infections"], "types": ["T033"], "canonical_name": "Recurrent sinopulmonary infections", "definition": "An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. [HPO:probinson]"} {"concept_id": "C1846550", "aliases": ["Defective T cell activation", "Decreased T lymphocyte activation", "Decreased T-cell activation", "Decreased T-lymphocyte activation", "Profound depletion of T4+ lymphocytes"], "types": ["T033"], "definition": "Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. [ISBN:0781735149]", "canonical_name": "Decreased T cell activation"} {"concept_id": "C1846551", "aliases": [], "types": ["T033"], "canonical_name": "Defective B cell activation", "definition": "A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of [GOC:mgi_curators, ISBN:0781735149]"} {"concept_id": "C1846566", "aliases": ["Degeneration of lateral corticospinal tracts"], "types": ["T033"], "canonical_name": "Degeneration of the lateral corticospinal tracts", "definition": "Deterioration of the tissues of the lateral corticospinal tracts. [HPO:probinson]"} {"concept_id": "C1846620", "aliases": ["Unilateral clonic seizures", "Unilateral clonic seizure", "Hemiclonic seizures", "Hemiclonic seizure"], "types": ["T047"], "canonical_name": "Focal hemiclonic seizure", "definition": "A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset. []"} {"concept_id": "C1846674", "aliases": ["Increased thigh size"], "types": ["T033"], "canonical_name": "Thigh hypertrophy", "definition": "Muscle hypertrophy affecting the thighs. [HPO:probinson]"} {"concept_id": "C1846678", "aliases": ["Reduced FVC", "Decreased forced vital capacity"], "types": ["T033"], "canonical_name": "Reduced forced vital capacity", "definition": "An abnormal reduction in the amount of air a person can expel following maximal inspiration. [PMID:22347750, PMID:24695507]"} {"concept_id": "C1846797", "aliases": [], "types": ["T033"], "canonical_name": "Short stature, severe disproportionate"} {"concept_id": "C1846798", "aliases": [], "types": ["T033"], "canonical_name": "Cervical subluxation", "definition": "A partial dislocation of one or more intervertebral joints in the cervical vertebral column. [HPO:probinson]"} {"concept_id": "C1846803", "aliases": ["Small end part of bone"], "types": ["T033"], "canonical_name": "Small epiphyses", "definition": "Reduction in the size or volume of epiphyses. [HPO:probinson]"} {"concept_id": "C1846821", "aliases": ["Coagulation abnormalities", "Coagulation abnormality", "Abnormal blood coagulation studies"], "types": ["T033"], "canonical_name": "Abnormality of coagulation", "definition": "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. [HPO:probinson]"} {"concept_id": "C1846829", "aliases": ["Interosseous muscular atrophy"], "types": ["T033"], "canonical_name": "Interosseus muscle atrophy", "definition": "Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones. [HPO:curators]"} {"concept_id": "C1846853", "aliases": ["Tarsal delayed ossification"], "types": ["T033"], "canonical_name": "Delayed tarsal ossification", "definition": "Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. [HPO:probinson]"} {"concept_id": "C1846865", "aliases": [], "types": ["T033"], "canonical_name": "Substantia nigra gliosis", "definition": "Focal proliferation of glial cells in the substantia nigra. [HPO:probinson]"} {"concept_id": "C1846868", "aliases": ["Parkinsonism with favourable response to dopaminergic medication"], "types": ["T047"], "canonical_name": "Parkinsonism with favorable response to dopaminergic medication", "definition": "Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication. []"} {"concept_id": "C1846911", "aliases": ["Compensatory head tilt/chin elevation"], "types": ["T033"], "canonical_name": "Compensatory chin elevation", "definition": "A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. [HPO:probinson]"} {"concept_id": "C1846950", "aliases": ["Short middle phalanges", "Brachymesophalangy", "Hypoplastic middle phalanx", "Midphalangeal hypoplasia", "Hypoplasia of the middle phalanges of the hand", "Short middle bone of finger", "Hypoplastic middle phalanges", "Disproportionately short middle phalanges", "Short middle phalanx of finger"], "types": ["T033"], "definition": "Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. [HPO:probinson]", "canonical_name": "Shortened middle finger bones"} {"concept_id": "C1847117", "aliases": ["Enlarged fourth ventricle"], "types": ["T033"], "canonical_name": "Dilated fourth ventricle", "definition": "An abnormal dilatation of the fourth cerebral ventricle. [HPO:probinson]"} {"concept_id": "C1847164", "aliases": [], "types": ["T033"], "canonical_name": "Morning myoclonic jerks"} {"concept_id": "C1847165", "aliases": ["Morning generalized tonic-clonic seizures", "Generalised tonic-clonic seizures on awakening", "Generalized tonic-clonic seizures on awakening", "Morning generalised tonic-clonic seizures"], "types": ["T047"], "canonical_name": "Bilateral tonic-clonic seizure on awakening", "definition": "Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day). [HPO:probinson, PMID:24395517, PMID:26948972]"} {"concept_id": "C1847189", "aliases": ["Absent scaphoid bone", "Missing scaphoid bone"], "types": ["T033"], "canonical_name": "Absent scaphoid", "definition": "Congenital absence of the scaphoid.. [DDD:jcampbell]"} {"concept_id": "C1847190", "aliases": ["Absent trapezium bone"], "types": ["T033"], "canonical_name": "Absent trapezium"} {"concept_id": "C1847191", "aliases": [], "types": ["T033"], "canonical_name": "Absent trapezoid bone"} {"concept_id": "C1847356", "aliases": ["Polymicrogyria, anterior to posterior gradient"], "types": ["T033"], "canonical_name": "Frontal polymicrogyria", "definition": "A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum. [COST:neuromig, PMID:20301504]"} {"concept_id": "C1847363", "aliases": ["Absent/underdeveloped ribs", "Absent/small ribs", "Hypoplastic or missing ribs"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the ribs"} {"concept_id": "C1847383", "aliases": ["Absence of lymph node germinal centre", "Lymphoid germinal centre defect", "Lymphoid germinal center defect", "Lymph nodes lack germinal centre", "Lymph nodes lack germinal center"], "types": ["T033"], "canonical_name": "Absence of lymph node germinal center", "definition": "Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. [HPO:probinson]"} {"concept_id": "C1847392", "aliases": ["Limitation of neck motion", "Restricted neck movement", "Limited neck mobility"], "types": ["T033"], "canonical_name": "Limitation of neck motion"} {"concept_id": "C1847393", "aliases": [], "types": ["T033"], "canonical_name": "Cervical vertebral bodies with decreased anteroposterior diameter"} {"concept_id": "C1847394", "aliases": [], "types": ["T033"], "canonical_name": "Fusion of midcervical facet joints"} {"concept_id": "C1847397", "aliases": [], "types": ["T033"], "canonical_name": "Global systolic dysfunction", "definition": "A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly. [PMID:24173273, PMID:7713107]"} {"concept_id": "C1847408", "aliases": ["Progressive brachydactyly of middle and distal phalanges", "Short middle and distal phalanges of digits ii through v"], "types": ["T033"], "canonical_name": "Brachytelomesophalangy", "definition": "Disproportionately short middle and distal phalanges compared to the hand/foot. [HPO:probinson]"} {"concept_id": "C1847425", "aliases": ["Abnormal glucose oral tolerance test"], "types": ["T033"], "canonical_name": "Abnormal oral glucose tolerance", "definition": "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose. [HPO:probinson]"} {"concept_id": "C1847507", "aliases": [], "types": ["T033"], "canonical_name": "Paroxysmal lethargy", "definition": "Repeated episodes of sudden-onset and transient lethargy. [HPO:probinson]"} {"concept_id": "C1847515", "aliases": ["Abnormal eye movements, paroxysmal"], "types": ["T033"], "canonical_name": "Paroxysmal involuntary eye movements", "definition": "Sudden-onset episode of abnormal, involuntary eye movements. [HPO:probinson]"} {"concept_id": "C1847524", "aliases": [], "types": ["T047"], "definition": "A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error. [HPO:probinson]", "canonical_name": "Hyperopic astigmatism"} {"concept_id": "C1847584", "aliases": ["Distal sensation loss", "Decreased distal sensation", "Decreased sensation in extremities", "Distal sensory impairment in lower limbs", "Distal sensory impairment of the lower extremities", "Distal sensory loss, upper and lower limbs", "Loss of distal sensation", "Distal sensory loss"], "types": ["T033"], "canonical_name": "Distal sensory impairment", "definition": "An abnormal reduction in sensation in the distal portions of the extremities. [HPO:probinson]"} {"concept_id": "C1847609", "aliases": ["Impaired non-word repetition", "Deficit in non-word repetition"], "types": ["T033"], "canonical_name": "Deficit in phonologic short-term memory", "definition": "Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory [PMID:19646677]"} {"concept_id": "C1847610", "aliases": [], "types": ["T033"], "canonical_name": "Deficit in expressive language"} {"concept_id": "C1847762", "aliases": ["Cerebellar cysts"], "types": ["T033"], "canonical_name": "Cerebellar cyst"} {"concept_id": "C1847766", "aliases": ["Shoulder-girdle muscle atrophy", "Shoulder girdle atrophy", "Shoulder girdle muscle wasting"], "types": ["T033"], "canonical_name": "Shoulder girdle muscle atrophy", "definition": "Amyotrophy affecting the muscles of the shoulder girdle. [HPO:curators]"} {"concept_id": "C1847868", "aliases": ["Generalised aminoaciduria", "Generalized nonspecific aminoaciduria", "Generalised nonspecific aminoaciduria"], "types": ["T033"], "canonical_name": "Generalized aminoaciduria", "definition": "An increased concentration of all types of amino acid in the urine. [HPO:probinson]"} {"concept_id": "C1847878", "aliases": [], "types": ["T190"], "canonical_name": "Sternal pit", "definition": "A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum. [https://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/phace-syndrome-handbook/ventral-or-midline-abnormalities]"} {"concept_id": "C1847879", "aliases": ["X-linked dominant"], "types": ["T033"], "canonical_name": "X-linked dominant inheritance", "definition": "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. [HPO:curators]"} {"concept_id": "C1847882", "aliases": [], "types": ["T033"], "canonical_name": "Increased retinal vascularity"} {"concept_id": "C1847884", "aliases": ["Hemangioma, facial, plaque-like"], "types": ["T191"], "canonical_name": "Plaque-like facial hemangioma", "definition": "Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology. [HPO:probinson]"} {"concept_id": "C1847886", "aliases": [], "types": ["T033"], "canonical_name": "Anomalous branches of internal carotid artery"} {"concept_id": "C1847906", "aliases": ["'Onion bulb' formations", "Onion bulb formations"], "types": ["T033"], "canonical_name": "Onion bulb formation", "definition": "Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. [HPO:probinson]"} {"concept_id": "C1848103", "aliases": ["Narrow pelvis bone", "Narrow pelvis"], "types": ["T033"], "canonical_name": "Narrow pelvis bone", "definition": "Reduced side to side width of the pelvis. [HPO:probinson]"} {"concept_id": "C1848108", "aliases": ["Disproportionately long ulnae"], "types": ["T033"], "canonical_name": "Long ulna", "definition": "Increased length of the ulna. [HPO:probinson]"} {"concept_id": "C1848109", "aliases": ["Long calf bone", "Long fibula", "Disproportionately long fibula"], "types": ["T033"], "canonical_name": "Long fibula", "definition": "Disproportionately long fibulae. [HPO:probinson]"} {"concept_id": "C1848178", "aliases": ["Males with female external genitalia"], "types": ["T033"], "canonical_name": "Female external genitalia in individual with 46,XY karyotype", "definition": "The presence of female external genitalia in a person with a male karyotype. [HPO:probinson]"} {"concept_id": "C1848182", "aliases": ["Blind-ended vagina"], "types": ["T019"], "canonical_name": "Blind vagina", "definition": "The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. [HPO:skoehler, PMID:23730041, PMID:29768628]"} {"concept_id": "C1848192", "aliases": ["Absent facial hair"], "types": ["T033"], "canonical_name": "Absent facial hair", "definition": "Absence of facial hair. [HPO:probinson]"} {"concept_id": "C1848201", "aliases": [], "types": ["T047"], "definition": "A developmental brain abnormality characterized by atypical migration of neurons during cortical development.", "canonical_name": "Subcortical band heterotopia"} {"concept_id": "C1848207", "aliases": ["Poor speech"], "types": ["T033"], "canonical_name": "Poor speech"} {"concept_id": "C1848389", "aliases": [], "types": ["T033"], "canonical_name": "Posterior pharyngeal cleft"} {"concept_id": "C1848395", "aliases": ["Birth weight > 90th percentile", "Large for gestational age", "Birthweight > 90th percentile", "Macrosomia"], "types": ["T033"], "definition": "A fetus or infant who is larger than expected for the age or gender, or who has a birth weight greater than the 90th percentile.", "canonical_name": "Macrosomia, neonatal"} {"concept_id": "C1848431", "aliases": ["Xanthine stones", "Urinary xanthine stones"], "types": ["T033"], "canonical_name": "Xanthine nephrolithiasis", "definition": "The presence of xanthine-containing calculi (stones) in the kidneys. [HPO:probinson]"} {"concept_id": "C1848446", "aliases": [], "types": ["T033"], "canonical_name": "C1-C2 subluxation", "definition": "A partial dislocation of the atlantoaxial joints. [HPO:curators]"} {"concept_id": "C1848453", "aliases": ["Poor motor coordination"], "types": ["T033"], "canonical_name": "Poor motor coordination"} {"concept_id": "C1848456", "aliases": ["Atypical or prolonged liver inflammation"], "types": ["T047"], "canonical_name": "Atypical or prolonged hepatitis"} {"concept_id": "C1848459", "aliases": [], "types": ["T033"], "canonical_name": "High nonceruloplasmin-bound serum copper", "definition": "An increased concentration of non ceruloplasmin bound copper in the blood. [HPO:probinson]"} {"concept_id": "C1848473", "aliases": ["Whistling appearance", "Whistling facial appearance"], "types": ["T033"], "canonical_name": "Whistling appearance", "definition": "An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling. [HPO:probinson, PMID:856233]"} {"concept_id": "C1848474", "aliases": ["Limited mandibular opening", "Limited mouth opening"], "types": ["T033"], "canonical_name": "Limited jaw opening"} {"concept_id": "C1848486", "aliases": [], "types": ["T047"], "canonical_name": "Premature arteriosclerosis", "definition": "Arteriosclerosis occurring at an age that is younger than usual. [HPO:probinson]"} {"concept_id": "C1848490", "aliases": [], "types": ["T033"], "canonical_name": "Protruding eyes"} {"concept_id": "C1848514", "aliases": ["Short 4th long bone of foot", "Short fourth metatarsals", "Short fourth metatarsus", "Bilateral fourth metatarsal shortening"], "types": ["T033"], "canonical_name": "Short fourth metatarsal", "definition": "Short fourth metatarsal bone. [HPO:probinson]"} {"concept_id": "C1848528", "aliases": [], "types": ["T047"], "canonical_name": "Extrapyramidal dyskinesia"} {"concept_id": "C1848529", "aliases": ["Pontine hypoplasia"], "types": ["T033"], "canonical_name": "Hypoplasia of the pons", "definition": "Underdevelopment of the pons. [HPO:probinson]"} {"concept_id": "C1848530", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal visual pursuit"} {"concept_id": "C1848538", "aliases": [], "types": ["T033"], "canonical_name": "Bulging of the costochondral junction", "definition": "Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. [HPO:probinson]"} {"concept_id": "C1848555", "aliases": ["Decreased plasma methionine", "Decreased serum methionine"], "types": ["T033"], "canonical_name": "Hypomethioninemia", "definition": "A decreased concentration of methionine in the blood. [HPO:gcarletti]"} {"concept_id": "C1848556", "aliases": ["Decreased ADOCBL"], "types": ["T033"], "canonical_name": "Decreased adenosylcobalamin", "definition": "Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. [HPO:probinson]"} {"concept_id": "C1848579", "aliases": ["Decreased methylmalonyl CoA mutase activity"], "types": ["T033"], "canonical_name": "Decreased methylmalonyl-CoA mutase activity", "definition": "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity. [HPO:probinson]"} {"concept_id": "C1848580", "aliases": ["Methionine synthase activity decreased", "Decreased methionine synthase activity", "Reduced methionine synthase activity", "Methionine synthase deficiency"], "types": ["T033"], "definition": "A reduction in methionine synthase activity. [HPO:probins]", "canonical_name": "Decreased activity of methionine synthase"} {"concept_id": "C1848597", "aliases": ["Y-shaped central long bones of hand"], "types": ["T033"], "canonical_name": "Central Y-shaped metacarpal", "definition": "A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal. [HPO:curators]"} {"concept_id": "C1848606", "aliases": [], "types": ["T033"], "canonical_name": "Vestibular hypofunction", "definition": "Reduced functioning of the vestibular apparatus. [HPO:probinson]"} {"concept_id": "C1848652", "aliases": [], "types": ["T047"], "definition": "A herniation of meninges through a congenital bone defect in the skull in the occipital region. [HPO:probinson]", "canonical_name": "Occipital meningocele"} {"concept_id": "C1848653", "aliases": [], "types": ["T033"], "canonical_name": "Anteriorly displaced genitalia"} {"concept_id": "C1848654", "aliases": ["Wide ribs"], "types": ["T033"], "definition": "Increased width of ribs [HPO:probinson]", "canonical_name": "Broad ribs"} {"concept_id": "C1848657", "aliases": ["Long ears", "Long ear"], "types": ["T033"], "canonical_name": "Long ear", "definition": "Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. [eom:2028381d5c61842a, PMID:19152421]"} {"concept_id": "C1848660", "aliases": ["Absent pubic bones"], "types": ["T033"], "canonical_name": "Aplastic pubic bones"} {"concept_id": "C1848670", "aliases": ["Aplastic/hypoplastic phalanges of the hand", "Hypoplastic/absent phalanges", "Aplastic/hypoplastic phalanges"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the phalanges of the hand", "definition": "Small or missing phalangeal bones of the fingers of the hand. [HPO:probinson]"} {"concept_id": "C1848671", "aliases": ["Absent/small ankle bone", "Absent/underdeveloped ankle bone", "Aplastic/hypoplastic tarsals"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the tarsal bones", "definition": "Absence or underdevelopment of the tarsal bones. [HPO:curators]"} {"concept_id": "C1848673", "aliases": ["Short foot", "Short feet", "Small feet"], "types": ["T033"], "definition": "A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). [HPO:probinson, PMID:19125433]", "canonical_name": "Hypoplastic feet"} {"concept_id": "C1848678", "aliases": ["Hydroxyphenylpyruvic aciduria"], "types": ["T033"], "canonical_name": "4-Hydroxyphenylpyruvic aciduria", "definition": "Increased concentration of pyruvic acid in the urine. [HPO:probinson]"} {"concept_id": "C1848680", "aliases": [], "types": ["T033"], "definition": "Increased concentration of 4-hydroxyphenylacetic acid in the urine. [HPO:probinson]", "canonical_name": "4-hydroxyphenylacetic aciduria"} {"concept_id": "C1848695", "aliases": [], "types": ["T033"], "canonical_name": "Episodic peripheral neuropathy"} {"concept_id": "C1848701", "aliases": [], "types": ["T033"], "canonical_name": "Elevated hepatic transaminase", "definition": "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. [HPO:probinson]"} {"concept_id": "C1848702", "aliases": ["Elevated urinary delta-aminolevulinic acid"], "types": ["T033"], "canonical_name": "Elevated urinary delta-aminolevulinic acid", "definition": "An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. [HPO:probinson]"} {"concept_id": "C1848736", "aliases": ["Amyotrophy of distal limb muscles", "Distal muscle atrophy, upper and lower limbs", "Distal muscular atrophy", "Distal muscle atrophy", "Muscle atrophy, distal", "Distal amyotrophy, especially of the hands and feet", "Distal muscle degeneration", "Distal muscle wasting", "Distal limb muscle atrophy"], "types": ["T047"], "canonical_name": "Distal amyotrophy", "definition": "Muscular atrophy affecting muscles in the distal portions of the extremities. [HPO:curators]"} {"concept_id": "C1848760", "aliases": ["Increased anterioposterior diameter of chest"], "types": ["T033"], "canonical_name": "Increased anterioposterior diameter of thorax"} {"concept_id": "C1848765", "aliases": ["Sparse to absent eyebrows"], "types": ["T033"], "canonical_name": "Sparse/absent eyebrows"} {"concept_id": "C1848769", "aliases": [], "types": ["T033"], "canonical_name": "Overtubulated long bones", "definition": "Overconstriction, or narrowness of the diaphysis and metaphysis of long bones. [HPO:probinson]"} {"concept_id": "C1848771", "aliases": ["Prominent superficial vasculature", "Prominent superficial blood vessels"], "types": ["T033"], "canonical_name": "Prominent superficial blood vessels"} {"concept_id": "C1848773", "aliases": ["Increased thickness of skin epidermis"], "types": ["T033"], "canonical_name": "Epidermal hyperkeratosis"} {"concept_id": "C1848800", "aliases": [], "types": ["T033"], "canonical_name": "Thyroid defect in oxidation and organification of iodide"} {"concept_id": "C1848840", "aliases": ["Bilateral absence of radius"], "types": ["T033"], "canonical_name": "Bilateral radial aplasia", "definition": "Missing radius bone on both sides associated with congenital failure of development. [HPO:probinson]"} {"concept_id": "C1848850", "aliases": ["Port-wine stain on forehead"], "types": ["T033"], "canonical_name": "Nevus flammeus of the forehead", "definition": "Naevus flammeus localised in the skin of the forehead. [HPO:sdoelken]"} {"concept_id": "C1848861", "aliases": ["Elevated circulating threonine", "High blood threonine levels"], "types": ["T033"], "canonical_name": "Hyperthreoninemia", "definition": "An increased concentration of threonine in the blood. [HPO:probinson]"} {"concept_id": "C1848869", "aliases": ["Absent external genitalia"], "types": ["T019"], "canonical_name": "Absent external genitalia", "definition": "Lack of external genitalia in a male or female individual. [HPO:probinson]"} {"concept_id": "C1848873", "aliases": ["Diaphragm issues", "Abnormality of the diaphragm", "Diaphragmatic defect"], "types": ["T190"], "canonical_name": "Abnormality of the diaphragm", "definition": "Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. [HPO:probinson]"} {"concept_id": "C1848877", "aliases": [], "types": ["T033"], "canonical_name": "Peripheral pulmonary vessel aplasia"} {"concept_id": "C1848904", "aliases": ["Failure of eruption of multiple adult teeth", "Multiple unerupted adult teeth", "Failure of eruption of multiple permanent teeth", "Multiple unerupted permanent teeth", "Multiple non-erupting adult teeth", "Multiple non-erupting permanent teeth"], "types": ["T033"], "canonical_name": "Multiple non-erupting secondary teeth"} {"concept_id": "C1848905", "aliases": ["Hypoplasia of alveolar ridge", "Underdevelopment of alveolar ridge", "Hypoplastic alveolar bone", "Decreased size of alveolar ridge", "Decreased size of alveolar process of jaw", "Small alveolar process of jaw", "Underdevelopment of alveolar process of jaw", "Small alveolar ridge"], "types": ["T033"], "canonical_name": "Alveolar process hypoplasia", "definition": "Underdevelopment of the alveolar process (also known as alveolar bone). [HPO:probinson]"} {"concept_id": "C1848908", "aliases": ["Decreased size of zygomaticomaxillary bone complex", "Hypoplasia of zygomaticomaxillary complex", "Hypoplasia of malar bone complex", "Underdevelopment of zygomaticomaxillary bone complex", "Deficiency of zygomaticomaxillary bone complex"], "types": ["T033"], "canonical_name": "Maxillozygomatic hypoplasia", "definition": "Hypoplasia of the maxillozygomatic complex. [HPO:probinson]"} {"concept_id": "C1848918", "aliases": [], "types": ["T033"], "canonical_name": "Increased startle response"} {"concept_id": "C1848920", "aliases": [], "types": ["T033"], "canonical_name": "GM2-ganglioside accumulation", "definition": "Cellular accumulation of GM2 gangliosides. [PMID:30524313]"} {"concept_id": "C1848924", "aliases": ["Onset in infancy", "Onset in first year of life", "Infantile onset"], "types": ["T033"], "canonical_name": "Infantile onset", "definition": "Onset of signs or symptoms of disease between 28 days to one year of life. [HPO:probinson]"} {"concept_id": "C1848954", "aliases": ["Generalised dystonia"], "types": ["T033"], "definition": "A type of dystonia that affects all or most of the body. [HPO:probinson]", "canonical_name": "Generalized dystonia"} {"concept_id": "C1848957", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary sulfite", "definition": "Increased concentration of SO3(2-), i.e., sulfite, in the urine. [HPO:probinson]"} {"concept_id": "C1848958", "aliases": ["Decreased urinary sulphate", "Decreased urinary sulfate"], "types": ["T033"], "canonical_name": "Decreased urinary sulfate", "definition": "Decreased concentration of sulfate in the urine. [HPO:probinson]"} {"concept_id": "C1848971", "aliases": ["Increased urinary excretion of gamma-aminobutyric acid (GABA)"], "types": ["T033"], "canonical_name": "Increased level of gamma-aminobutyric acid in urine", "definition": "Elevated concentration of gamma-aminobutyric acid in the urine. [PMID:11121859]"} {"concept_id": "C1848977", "aliases": ["Decreased upper labial height", "Decreased height of upper lip", "Decreased upper labial length", "Decreased vertical length of upper lip", "Short upper lip", "Shortening of upper lip", "Vertical deficiency of upper lip"], "types": ["T033"], "canonical_name": "Short upper lip", "definition": "Decreased width of the upper lip. [HPO:probinson]"} {"concept_id": "C1848978", "aliases": [], "types": ["T033"], "canonical_name": "Membranous subvalvular aortic stenosis", "definition": "Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency. [HPO:probinson, PMID:5817839]"} {"concept_id": "C1848980", "aliases": ["Developmental arrest"], "types": ["T033"], "canonical_name": "Developmental stagnation", "definition": "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. [HPO:probinson]"} {"concept_id": "C1849016", "aliases": ["Broadening of femoral neck", "Wide femoral neck", "Wide neck of thigh bone", "Widened femoral necks"], "types": ["T033"], "canonical_name": "Broad femoral neck", "definition": "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). [HPO:probinson]"} {"concept_id": "C1849020", "aliases": ["Short metatarsal bone", "Hypoplastic metatarsals", "Short metatarsal bones", "Hypoplasia of the metatarsal bones", "Shortened metatarsals", "Short long bone of foot", "Short metatarsals"], "types": ["T033"], "canonical_name": "Short metatarsal", "definition": "Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. [HPO:probinson, PMID:19125433]"} {"concept_id": "C1849025", "aliases": ["Oval facial shape", "Oval face", "Oval facies"], "types": ["T033"], "canonical_name": "Oval face", "definition": "A face with a rounded and slightly elongated outline. [HPO:probinson]"} {"concept_id": "C1849034", "aliases": ["Small iliac bodies", "Hypoplastic iliac bodies"], "types": ["T033"], "canonical_name": "Hypoplastic iliac body", "definition": "Underdevelopment of the body of ilium. [HPO:probinson]"} {"concept_id": "C1849039", "aliases": ["Widened long bone metaphyses", "Broad wide portion of long bone", "Wide metaphyses", "Widened metaphyses"], "types": ["T033"], "canonical_name": "Metaphyseal widening", "definition": "A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets."} {"concept_id": "C1849043", "aliases": ["Soft, doughy skin"], "types": ["T033"], "canonical_name": "Soft, doughy skin", "definition": "A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. []"} {"concept_id": "C1849049", "aliases": [], "types": ["T033"], "canonical_name": "Precocious costochondral ossification", "definition": "Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage. [HPO:probinson, PMID:10489169]"} {"concept_id": "C1849051", "aliases": [], "types": ["T033"], "canonical_name": "Squared-off platyspondyly"} {"concept_id": "C1849063", "aliases": ["Short pelvis bones"], "types": ["T033"], "canonical_name": "Short iliac bones", "definition": "Underdevelopment of the iliac bones. [PMID:29019756]"} {"concept_id": "C1849065", "aliases": [], "types": ["T033"], "canonical_name": "Flattened proximal radial epiphyses", "definition": "An abnormally flat form of the proximal epiphysis of the radius. [HPO:curators]"} {"concept_id": "C1849073", "aliases": [], "types": ["T190"], "canonical_name": "Fused vertebrae"} {"concept_id": "C1849075", "aliases": ["Macrocephaly, relative", "Disproportionately large head", "Relatively large head"], "types": ["T019"], "definition": "Head circumference is less than two standard deviations above the mean, but appears disproportionately large when other factors such as stature are considered.", "canonical_name": "Relative macrocephaly"} {"concept_id": "C1849079", "aliases": ["Decreasing lumbar vertebrae interpediculate distance"], "types": ["T033"], "canonical_name": "Lumbar interpedicular narrowing", "definition": "Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. [HPO:probinson]"} {"concept_id": "C1849081", "aliases": ["Striated metaphysis"], "types": ["T033"], "canonical_name": "Metaphyseal striations", "definition": "Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). [PMID:18203204]"} {"concept_id": "C1849089", "aliases": ["Wide forehead", "Increased bitemporal width", "Intertemporal widening", "Increased bitemporal dimension", "Bitemporal widening", "Broad forehead", "Increased width of the forehead"], "types": ["T033"], "canonical_name": "Broad forehead", "definition": "Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. [PMID:19125436]"} {"concept_id": "C1849095", "aliases": ["Progressive cochlear degeneration"], "types": ["T033"], "canonical_name": "Cochlear degeneration", "definition": "Deterioration or loss of the tissues of the cochlea. [HPO:probinson]"} {"concept_id": "C1849097", "aliases": ["Loss of ability to walk"], "types": ["T033"], "canonical_name": "Loss of ability to walk"} {"concept_id": "C1849121", "aliases": [], "types": ["T033"], "canonical_name": "Thin face"} {"concept_id": "C1849125", "aliases": ["Premature greying of body hair", "Premature graying of body hair"], "types": ["T033"], "canonical_name": "Premature graying of body hair"} {"concept_id": "C1849134", "aliases": ["Decreased vibratory sense in lower limbs", "Distal sensory loss, especially vibratory sense", "Impaired vibration sensation in the lower limbs", "Diminished vibratory sensation in the legs", "Decreased lower limb vibratory sense", "Decreased vibratory sense in the lower limbs", "Decreased vibratory sense in the lower extremities", "Distal vibratory impairment of the lower limbs"], "types": ["T033"], "canonical_name": "Impaired vibration sensation in the lower limbs", "definition": "A decrease in the ability to perceive vibration in the legs. [HPO:curators]"} {"concept_id": "C1849143", "aliases": [], "types": ["T033"], "canonical_name": "Progressive truncal ataxia"} {"concept_id": "C1849146", "aliases": [], "types": ["T033"], "canonical_name": "Loss of Purkinje cells in the cerebellar vermis"} {"concept_id": "C1849148", "aliases": ["Decreased sensory nerve conduction velocities", "Decreased sensory NCV"], "types": ["T033"], "canonical_name": "Decreased sensory nerve conduction velocity", "definition": "Reduced speed of conduction of the action potential along a sensory nerve. [HPO:probinson]"} {"concept_id": "C1849151", "aliases": ["Hypermyelinated retinal nerve fibres", "Retinal striation"], "types": ["T033"], "canonical_name": "Hypermyelinated retinal nerve fibers"} {"concept_id": "C1849152", "aliases": [], "types": ["T033"], "canonical_name": "Swan neck-like deformities of the fingers", "definition": "A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke. [HPO:curators]"} {"concept_id": "C1849156", "aliases": [], "types": ["T047"], "canonical_name": "Spastic ataxia"} {"concept_id": "C1849172", "aliases": ["Hypoplasia of the frontal lobes", "Underdeveloped frontal lobe", "Frontal lobe hypoplasia"], "types": ["T033"], "definition": "Underdevelopment of the frontal lobe of the cerebrum. [HPO:sdoelken]", "canonical_name": "Hypoplastic frontal lobes"} {"concept_id": "C1849176", "aliases": [], "types": ["T033"], "canonical_name": "Single kidney"} {"concept_id": "C1849185", "aliases": ["Elevated levels of cholesta-5,7-dien-3beta-ol"], "types": ["T033"], "canonical_name": "Elevated 7-dehydrocholesterol", "definition": "Elevated 7-dehydrocholesterol levels. [HPO:probinson]"} {"concept_id": "C1849186", "aliases": ["Severe sun sensitivity"], "types": ["T033"], "canonical_name": "Severe photosensitivity", "definition": "A severe degree of photosensitivity of the skin. [HPO:curators]"} {"concept_id": "C1849198", "aliases": ["Superficial corneal opacities"], "types": ["T033"], "canonical_name": "Opacification of the corneal epithelium", "definition": "Lack of transparency of the corneal epithelium. [DDD:gblack]"} {"concept_id": "C1849211", "aliases": ["Excessive hairiness over body", "Generalised hirsutism"], "types": ["T033"], "canonical_name": "Generalized hirsutism", "definition": "Abnormally increased hair growth over much of the entire body. [HPO:curators]"} {"concept_id": "C1849221", "aliases": ["Flaxen hair color", "Fair hair", "Blond hair", "Flaxen hair colour", "Light coloured hair", "Sandy hair colour", "Fair hair colour", "Towhead (hair color)", "Straw colored hair", "Sandy hair color", "Straw coloured hair", "Fair hair color"], "types": ["T033"], "definition": "A human hair color characterized by low levels of eumelanin.", "canonical_name": "Light colored hair"} {"concept_id": "C1849227", "aliases": ["Midline defect of chin"], "types": ["T033"], "definition": "Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin. [DDD:jclayton-smith]", "canonical_name": "Cleft of chin"} {"concept_id": "C1849242", "aliases": ["Reduced B cell function", "Abnormality of B cell physiology"], "types": ["T033"], "canonical_name": "Abnormality of B cell physiology", "definition": "An abnormality of the physiological functioning of B cells. [HPO:probinson]"} {"concept_id": "C1849260", "aliases": ["Facial palsy caused by overgrowth of cranial bones", "Facial palsy secondary to hypertrophy of cranial bones", "Facial palsy caused by excessive growth of facial bones", "Facial palsy caused by enlargement of cranial bones"], "types": ["T033"], "canonical_name": "Facial palsy secondary to cranial hyperostosis", "definition": "Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve. [HPO:probinson]"} {"concept_id": "C1849263", "aliases": [], "types": ["T033"], "canonical_name": "Sclerotic scapulae", "definition": "Increased density of the bony tissue of the scapula. [HPO:probinson]"} {"concept_id": "C1849265", "aliases": ["General overgrowth"], "types": ["T033"], "canonical_name": "Overgrowth", "definition": "Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. [HPO:probinson]"} {"concept_id": "C1849276", "aliases": [], "types": ["T033"], "canonical_name": "Cortically dense long tubular bones", "definition": "Increased density of the compact bone of long bone. [HPO:probinson]"} {"concept_id": "C1849290", "aliases": ["Snail-shaped ilia", "Snail-like pelvis"], "types": ["T019"], "canonical_name": "Snail-like ilia", "definition": "The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature. [PMID:3799723]"} {"concept_id": "C1849292", "aliases": ["Advanced carpal ossification", "Accelerated carpal bone maturation", "Advanced carpal bone age", "Precociously ossified carpal bones"], "types": ["T033"], "canonical_name": "Advanced ossification of carpal bones", "definition": "Ossification of carpal bones at an abnormally early age. [HPO:probinson]"} {"concept_id": "C1849293", "aliases": ["Precociously ossified tarsal bones"], "types": ["T033"], "canonical_name": "Advanced tarsal ossification", "definition": "Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. [HPO:probinson]"} {"concept_id": "C1849295", "aliases": ["Underdeveloped inner lips"], "types": ["T033"], "canonical_name": "Hypoplastic labia minora"} {"concept_id": "C1849300", "aliases": ["Widely patent fontanels and sutures"], "types": ["T033"], "canonical_name": "Widely patent fontanelles and sutures", "definition": "An abnormally increased width of the cranial fontanelles and sutures. [HPO:probinson]"} {"concept_id": "C1849305", "aliases": ["Absent/underdeveloped pubic bones", "Hypoplastic/aplastic pubic bones", "Absent/small pubic bones"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the pubic bone", "definition": "Absence or underdevelopment of the pubic bone. [HPO:probinson]"} {"concept_id": "C1849307", "aliases": ["Increased density of long bones"], "types": ["T033"], "canonical_name": "Increased density of long bones", "definition": "An abnormal increase in the bone density of the long bones. [HPO:curators]"} {"concept_id": "C1849309", "aliases": ["Broad outermost wide portion of thighbone", "Wide distal metaphysis of femur"], "types": ["T033"], "canonical_name": "Wide distal femoral metaphysis", "definition": "Increased width of the distal part of the shaft (metaphysis) of the femur. [HPO:probinson]"} {"concept_id": "C1849311", "aliases": ["First metacarpals hypoplastic", "Short first metacarpals", "Short first metacarpal", "Hypoplastic 1st metacarpal", "Shortened 1st long bone of hand", "First metacarpal hypoplasia"], "types": ["T033"], "canonical_name": "Short 1st metacarpal", "definition": "A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. [HPO:probinson]"} {"concept_id": "C1849314", "aliases": [], "types": ["T033"], "canonical_name": "absence of radius and ulna"} {"concept_id": "C1849316", "aliases": [], "types": ["T033"], "canonical_name": "Premature separation of centromeric heterochromatin"} {"concept_id": "C1849327", "aliases": [], "types": ["T033"], "canonical_name": "Forearm reduction defects"} {"concept_id": "C1849338", "aliases": ["Abnormal belly button", "Abnormal navel", "Abnormal umbilicus"], "types": ["T190"], "canonical_name": "Abnormal umbilicus morphology", "definition": "An abnormality of the structure or appearance of the umbilicus. [HPO:probinson]"} {"concept_id": "C1849340", "aliases": ["Broad palpebral fissure", "Wide opening between the eyelids", "Wide palpebral fissures", "Long opening between the eyelids", "Broad opening between the eyelids", "Wide palpebral fissure", "Long palpebral fissures"], "types": ["T033"], "canonical_name": "Long palpebral fissure", "definition": "Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. [PMID:19125427]"} {"concept_id": "C1849341", "aliases": ["Triangular shaped oral aperture", "Triangular shaped mouth", "Triangular mouth"], "types": ["T033"], "canonical_name": "Triangular mouth", "definition": "The presence of a triangular form of the mouth. [HPO:probinson]"} {"concept_id": "C1849343", "aliases": ["Notched outermost bone of hand", "Duplication of the outermost bone of hand", "Partial/complete duplication of the distal phalanges of the hand", "Bifid terminal phalanges"], "types": ["T033"], "canonical_name": "Duplication of the distal phalanx of hand", "definition": "This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]"} {"concept_id": "C1849350", "aliases": ["Notch of lower alveolar ridge", "Cleft of lower gum ridge", "Notch of lower gum ridge", "Notch of mandibular alveolar ridge"], "types": ["T033"], "canonical_name": "Cleft lower alveolar ridge"} {"concept_id": "C1849357", "aliases": ["Abnormal aryepiglottic folds", "Abnormality of the aryepiglottic fold"], "types": ["T190"], "canonical_name": "Abnormal aryepiglottic fold morphology", "definition": "An abnormality of the aryepiglottic fold. [HPO:probinson]"} {"concept_id": "C1849358", "aliases": ["Hypertrophic labia minora", "Labia minora hypertrophy"], "types": ["T033"], "canonical_name": "Enlarged labia minora", "definition": "Increase in size of the folds of skin between the outer labia. [HPO:probinson]"} {"concept_id": "C1849364", "aliases": ["Absent earlobe", "Lobeless ears", "Absent ear lobes", "Earlobe, absent"], "types": ["T190"], "definition": "Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. [HPO:probinson, PMID:19152421]", "canonical_name": "Lobule aplasia"} {"concept_id": "C1849366", "aliases": ["Slit-like nostrils"], "types": ["T033"], "canonical_name": "Naris, slit-like"} {"concept_id": "C1849367", "aliases": ["Increased breadth of nasal bridge", "Nasal bridge broad", "Broad nasal root", "Wide bridge of nose", "Nasal bridge, wide", "Increased width of bridge of nose", "Increased breadth of bridge of nose", "Increased width of nasal bridge", "Widened nasal bridge", "Wide nasal bridge", "Broad nasal bridge"], "types": ["T033"], "definition": "Increased breadth of the nasal bridge (and with it, the nasal root). [HPO:probinson, PMID:19152422]", "canonical_name": "Broadened nasal bridge"} {"concept_id": "C1849370", "aliases": [], "types": ["T019"], "canonical_name": "Tetraphocomelia", "definition": "Phocomelia involving all four extremities. [UToronto:chum]"} {"concept_id": "C1849377", "aliases": ["Midfacial capillary hemangioma"], "types": ["T191"], "canonical_name": "Midface capillary hemangioma"} {"concept_id": "C1849392", "aliases": ["Ridged fingernail", "Ridged fingernails", "Longitudinally grooved fingernails"], "types": ["T033"], "canonical_name": "Ridged fingernail", "definition": "Longitudinal, linear prominences in the fingernail plate. [HPO:probinson, PMID:19125433]"} {"concept_id": "C1849398", "aliases": [], "types": ["T047"], "definition": "A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery. [ORCID:0000-0003-0986-4123, PMID:28981474]", "canonical_name": "Pericentral retinitis pigmentosa"} {"concept_id": "C1849412", "aliases": [], "types": ["T033"], "canonical_name": "Macular hypoplasia", "definition": "Underdevelopment of the macula lutea. [HPO:probinson]"} {"concept_id": "C1849426", "aliases": ["Absent cellular immunity"], "types": ["T033"], "canonical_name": "Lack of T cell function", "definition": "Complete inability of T cells to perform their functions in cell-mediated immunity. []"} {"concept_id": "C1849478", "aliases": ["Increased red cell fragility", "Increased erythrocyte osmotic fragility"], "types": ["T033"], "canonical_name": "Increased red cell osmotic fragility"} {"concept_id": "C1849485", "aliases": [], "types": ["T033"], "canonical_name": "Neuronal loss in the cerebral cortex"} {"concept_id": "C1849488", "aliases": ["Increased serum pyruvic acid"], "types": ["T033"], "canonical_name": "Increased serum pyruvate", "definition": "An increased concentration of pyruvate in the blood. [HPO:gcarletti]"} {"concept_id": "C1849489", "aliases": [], "types": ["T033"], "canonical_name": "Increased serum alanine"} {"concept_id": "C1849510", "aliases": ["Abnormal intrauterine movements"], "types": ["T033"], "canonical_name": "Prenatal movement abnormality", "definition": "An abnormality of fetal movement. [HPO:probinson]"} {"concept_id": "C1849537", "aliases": ["Persistent, open anterior fontanel", "Front fontanelle stays open", "Anterior fontanelle open in adults"], "types": ["T033"], "canonical_name": "Persistent open anterior fontanelle", "definition": "The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. [HPO:probinson]"} {"concept_id": "C1849538", "aliases": ["Delayed eruption of milk teeth", "Delayed eruption of baby teeth", "Late eruption of milk teeth", "Late eruption of baby teeth", "Delayed eruption of deciduous teeth", "Delayed primary teeth eruption", "Late eruption of primary teeth"], "types": ["T033"], "canonical_name": "Delayed eruption of primary teeth", "definition": "Delayed tooth eruption affecting the primary dentition. [HPO:ibailleulforestier]"} {"concept_id": "C1849540", "aliases": ["Delayed eruption of adult teeth", "Delayed eruption of secondary dentition", "Delayed eruption of secondary teeth", "Delayed permanent dentition", "Delayed eruption of permanent teeth"], "types": ["T033"], "canonical_name": "Delayed eruption of permanent teeth", "definition": "Delayed tooth eruption affecting the secondary dentition. [HPO:ibailleulforestier]"} {"concept_id": "C1849547", "aliases": ["Acro-osteolysis of distal phalanges", "Acroosteolysis of distal phalanges", "Osteolytic defects of the outermost finger bone of the hand"], "types": ["T033"], "canonical_name": "Osteolytic defects of the distal phalanges of the hand"} {"concept_id": "C1849570", "aliases": [], "types": ["T033"], "canonical_name": "Progressive pulmonary function impairment"} {"concept_id": "C1849575", "aliases": ["Absent vaginal lips"], "types": ["T033"], "canonical_name": "Absence of labia majora"} {"concept_id": "C1849577", "aliases": ["Neck pterygium"], "types": ["T033"], "canonical_name": "Neck pterygia", "definition": "Pterygia affecting the neck. [HPO:curators]"} {"concept_id": "C1849579", "aliases": [], "types": ["T033"], "canonical_name": "Anterior clefting of vertebral bodies", "definition": "Anterior schisis (cleft or cleavage) of vertebral bodies. [HPO:probinson]"} {"concept_id": "C1849580", "aliases": [], "types": ["T033"], "canonical_name": "Dysplastic patella"} {"concept_id": "C1849618", "aliases": [], "types": ["T033"], "canonical_name": "Accelerated atherosclerosis", "definition": "Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. [PMID:29040156]"} {"concept_id": "C1849667", "aliases": ["Wide nasal base", "Wide base of nose", "Broad base of nose", "Broad nasal base", "Increased width of nasal base", "Increased width of base of nose"], "types": ["T033"], "canonical_name": "Wide nasal base", "definition": "Increased distance between the attachments of the alae nasi to the face. [HPO:probinson, PMID:19152422]"} {"concept_id": "C1849677", "aliases": ["Numerous moles", "Multiple pigmented nevi"], "types": ["T033"], "canonical_name": "Numerous nevi"} {"concept_id": "C1849683", "aliases": ["No social interaction"], "types": ["T033"], "canonical_name": "No social interaction"} {"concept_id": "C1849686", "aliases": ["Hepatic steatosis, diffuse"], "types": ["T033"], "canonical_name": "Diffuse hepatic steatosis", "definition": "A diffuse form of hepatic steatosis. [HPO:probinson]"} {"concept_id": "C1849706", "aliases": [], "types": ["T033"], "canonical_name": "Midgut malrotation"} {"concept_id": "C1849715", "aliases": [], "types": ["T033"], "canonical_name": "Pink urine", "definition": "An abnormal pink color of urine. []"} {"concept_id": "C1849735", "aliases": ["Poorly folded helices"], "types": ["T033"], "canonical_name": "Underfolded helix", "definition": "Underdevelopment of the helix that either affects the entire helix, or is localized. [PMID:19152421]"} {"concept_id": "C1849740", "aliases": ["Short pointed digital bones"], "types": ["T033"], "canonical_name": "Short pointed phalanges"} {"concept_id": "C1849749", "aliases": ["Peripheral blood clot"], "types": ["T046"], "canonical_name": "Peripheral thrombosis"} {"concept_id": "C1849765", "aliases": ["Loss of corticomedullary differentiation", "Absent renal corticomedullary differentiation"], "types": ["T033"], "canonical_name": "Absence of renal corticomedullary differentiation", "definition": "A lack of differentiation between renal cortex and medulla on diagnostic imaging. [HPO:probinson]"} {"concept_id": "C1849766", "aliases": [], "types": ["T047"], "definition": "Fibrosis surrounding a portal tract that may extend to the adjacent liver parenchyma. It may be associated with periportal inflammation, hepatocyte necrosis, chronic active hepatitis and chronic cholestasis.", "canonical_name": "Periportal fibrosis"} {"concept_id": "C1849923", "aliases": ["Pale pigmentation", "Generalised hypopigmentation", "Generalized hypopigmentation"], "types": ["T033"], "canonical_name": "Fair skin"} {"concept_id": "C1849926", "aliases": [], "types": ["T033"], "canonical_name": "Phenylpyruvic acidemia"} {"concept_id": "C1849937", "aliases": ["Short-limbed dwarfism", "Brachymelic dwarfism", "Short limb dwarfism", "Short stature, disproportionate short-limb", "Disproportionate short limb dwarfism", "Micromelic dwarfism", "Short limb dwarfism, disproportionate", "Dwarfism, short-limbed", "Short-limb dwarfism", "Short stature, disproportionate short limb"], "types": ["T033"], "canonical_name": "Disproportionate short-limb short stature", "definition": "A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. [HPO:probinson]"} {"concept_id": "C1849950", "aliases": ["Failure of development of maxillary lateral incisor"], "types": ["T033"], "canonical_name": "Agenesis of maxillary lateral incisor", "definition": "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor. [HPO:ibailleulforestier]"} {"concept_id": "C1849953", "aliases": ["Square pelvis bone", "Squared off pelvis", "Square pelvis"], "types": ["T190"], "canonical_name": "Square pelvis bone", "definition": "An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure. [HPO:probinson]"} {"concept_id": "C1849955", "aliases": ["Limited elbow movement", "Decreased elbow mobility", "Limited elbow mobility", "Restricted elbow motion"], "types": ["T033"], "canonical_name": "Limited elbow movement"} {"concept_id": "C1849993", "aliases": ["Discrete calcific stippling"], "types": ["T033"], "canonical_name": "Calcific stippling", "definition": "An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). [HPO:curators]"} {"concept_id": "C1850013", "aliases": [], "types": ["T033"], "canonical_name": "Vitamin B12 deficiency caused by intestinal malabsorption"} {"concept_id": "C1850020", "aliases": [], "types": ["T033"], "canonical_name": "Bone marrow biopsy shows megaloblastic erythroid hyperplasia"} {"concept_id": "C1850041", "aliases": [], "types": ["T033"], "canonical_name": "Facial hirsutism", "definition": "Excess facial hair. [HPO:curators]"} {"concept_id": "C1850043", "aliases": [], "types": ["T033"], "canonical_name": "Anterior rounding of vertebral bodies"} {"concept_id": "C1850044", "aliases": ["Prominent protruding tailbone"], "types": ["T033"], "canonical_name": "Prominent protruding coccyx"} {"concept_id": "C1850048", "aliases": [], "types": ["T033"], "canonical_name": "Absent proximal finger flexion creases", "definition": "Absence of the proximal interphalangeal flexion creases of the fingers. [HPO:probinson]"} {"concept_id": "C1850049", "aliases": ["Clinodactyly of the little finger", "Fifth finger clinodactyly", "Permanent curving of the pinkie finger", "Clinodactyly of fifth digit"], "types": ["T019"], "canonical_name": "Clinodactyly of the 5th finger", "definition": "Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). [HPO:curators, PMID:16252026]"} {"concept_id": "C1850069", "aliases": ["Undetectable VEP", "Non-detectable VEP", "Absence of visual evoked potentials"], "types": ["T033"], "canonical_name": "Undetectable visual evoked potentials"} {"concept_id": "C1850072", "aliases": [], "types": ["T033"], "canonical_name": "Tented upper lip"} {"concept_id": "C1850083", "aliases": [], "types": ["T033"], "canonical_name": "Irregular ossification at anterior rib ends"} {"concept_id": "C1850134", "aliases": [], "types": ["T033"], "canonical_name": "Sandwich appearance of vertebral bodies"} {"concept_id": "C1850135", "aliases": ["Flared, widened metaphyses", "marked metaphyseal flaring of long bones", "Metaphyseal splaying", "Metaphyses flared", "Metaphyseal flaring", "Splayed metaphyses", "Metaphyseal flaring of long bones", "Flared wide portion of long bone"], "types": ["T033"], "canonical_name": "Flared metaphysis", "definition": "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. [HPO:probinson, PMID:12853662]"} {"concept_id": "C1850145", "aliases": [], "types": ["T033"], "canonical_name": "Distal radial epiphyseal osteolysis"} {"concept_id": "C1850148", "aliases": ["Proximal phalanges osteolysis"], "types": ["T033"], "canonical_name": "Osteolytic defects of the proximal phalanges of the hand"} {"concept_id": "C1850158", "aliases": [], "types": ["T033"], "canonical_name": "Interphalangeal joint erosions"} {"concept_id": "C1850159", "aliases": ["Broad shaft of long bone of hand"], "types": ["T033"], "canonical_name": "Widened metacarpal shaft"} {"concept_id": "C1850160", "aliases": [], "types": ["T033"], "canonical_name": "Thin metacarpal cortices"} {"concept_id": "C1850161", "aliases": [], "types": ["T033"], "canonical_name": "Widened metatarsal shaft"} {"concept_id": "C1850162", "aliases": [], "types": ["T033"], "canonical_name": "Thin metatarsal cortices"} {"concept_id": "C1850171", "aliases": ["Short-limb dwarfism identifiable at birth", "Short limb dwarfism recognizable at birth", "Neonatal short-limbed dwarfism", "Dwarfism, neonatal short-limbed", "Short-limbed dwarfism identifiable at birth", "Short limb dwarfism recognisable at birth", "Short-limb dwarfism identifiable neonatally"], "types": ["T033"], "canonical_name": "Neonatal short-limb short stature", "definition": "A type of short-limbed dwarfism that is manifest beginning in the neonatal period. [HPO:probinson]"} {"concept_id": "C1850178", "aliases": ["Bowed limbs due to multiple fractures"], "types": ["T033"], "canonical_name": "Bowing of limbs due to multiple fractures", "definition": "Curvature of the shafts of the long bones due to multiple fractures. [HPO:curators]"} {"concept_id": "C1850189", "aliases": [], "types": ["T033"], "canonical_name": "Large pinnae"} {"concept_id": "C1850190", "aliases": ["High set ears"], "types": ["T033"], "canonical_name": "Superiorly displaced ears"} {"concept_id": "C1850191", "aliases": ["Polar cataract, posterior"], "types": ["T190"], "canonical_name": "Posterior polar cataract", "definition": "A polar cataract that affects the posterior pole of the lens. [HPO:probinson]"} {"concept_id": "C1850196", "aliases": ["Posterior vertebral body scalloping"], "types": ["T033"], "canonical_name": "Posterior scalloping of vertebral bodies", "definition": "An excessive concavity of the posterior surface of one or more vertebral bodies. [HPO:probinson]"} {"concept_id": "C1850256", "aliases": ["Midline cleft lip", "Central cleft upper lip"], "types": ["T019"], "canonical_name": "Median cleft lip", "definition": "A type of cleft lip presenting as a midline (median) gap in the upper lip. [HPO:probinson]"} {"concept_id": "C1850259", "aliases": ["Short tibiae", "Shortening of the shankbone", "Hypoplastic tibia", "Short shinbone", "Shortening of the shinbone", "Shortening of the tibia", "Short skankbone", "Hypoplasia of the tibia"], "types": ["T033"], "canonical_name": "Short tibia", "definition": "Underdevelopment (reduced size) of the tibia. [HPO:probinson]"} {"concept_id": "C1850293", "aliases": ["platyspondyly, extreme"], "types": ["T033"], "canonical_name": "Severe platyspondyly"} {"concept_id": "C1850309", "aliases": ["Mildly elevated CPK", "Mildly increased serum creatine kinase", "Mildly elevated serum CK", "Mildly increased creatine kinase", "Moderately increased serum creatine kinase", "Moderately elevated serum CK", "Moderately elevated serum CPK", "Mildly elevated serum phospho-CK", "Mildly elevated creatine phosphokinase", "Mildly elevated serum CPK"], "types": ["T033"], "canonical_name": "Mildly elevated creatine kinase"} {"concept_id": "C1850325", "aliases": ["Hypoplastic labia", "Underdeveloped labia"], "types": ["T033"], "canonical_name": "Labial hypoplasia"} {"concept_id": "C1850327", "aliases": [], "types": ["T033"], "canonical_name": "Bifid uterus", "definition": "The presence of a bifid uterus. [HPO:probinson]"} {"concept_id": "C1850328", "aliases": [], "types": ["T033"], "canonical_name": "Duplicated colon"} {"concept_id": "C1850329", "aliases": [], "types": ["T033"], "canonical_name": "Sacral segmentation defect"} {"concept_id": "C1850336", "aliases": ["Fifth finger single interphalangeal crease"], "types": ["T033"], "canonical_name": "Single interphalangeal crease of fifth finger", "definition": "Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. [HPO:probinson]"} {"concept_id": "C1850348", "aliases": [], "types": ["T033"], "canonical_name": "Hypodysplasia of the corpus callosum", "definition": "Developmental defect characterized by a small and malformed corpus callosum. []"} {"concept_id": "C1850413", "aliases": [], "types": ["T033"], "canonical_name": "Reye syndrome-like episodes", "definition": "Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure. []"} {"concept_id": "C1850415", "aliases": ["Microvesicular hepatic steatosis"], "types": ["T033"], "definition": "A morphologic finding indicating intracytoplasmic fat accumulation in the liver parenchyma. Unlike macrovesicular steatosis, the fat accumulation occurs around the nucleus of the hepatocytes, without displacing it.", "canonical_name": "Microvesicular steatosis"} {"concept_id": "C1850438", "aliases": [], "types": ["T033"], "canonical_name": "Postural hypotension with compensatory tachycardia"} {"concept_id": "C1850447", "aliases": ["Rectilinear profiles ultrastructurally"], "types": ["T033"], "canonical_name": "Rectilinear intracellular accumulation of autofluorescent lipopigment storage material", "definition": "An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern. [HPO:probinson]"} {"concept_id": "C1850456", "aliases": ["Microcephaly, postnatal, progressive", "Microcephaly, progressive", "Progressively abnormally small cranium", "Progressively abnormally small skull"], "types": ["T190"], "canonical_name": "Progressive microcephaly", "definition": "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. [HPO:probinson]"} {"concept_id": "C1850493", "aliases": [], "types": ["T033"], "canonical_name": "Psychomotor regression, progressive"} {"concept_id": "C1850496", "aliases": ["Loss of brain cells", "Neuronal loss in CNS", "Neuronal loss"], "types": ["T033"], "canonical_name": "Neuronal loss in central nervous system"} {"concept_id": "C1850533", "aliases": [], "types": ["T033"], "canonical_name": "Yellow subcutaneous tissue covered by thin, scaly skin"} {"concept_id": "C1850534", "aliases": ["Generalized tissue edema", "Generalized edema", "Generalised oedema"], "types": ["T046"], "definition": "Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. [HPO:curators]", "canonical_name": "Generalised tissue oedema"} {"concept_id": "C1850535", "aliases": [], "types": ["T033"], "canonical_name": "Absence of scalp hair"} {"concept_id": "C1850544", "aliases": [], "types": ["T033"], "definition": "Dehydration resulting from abnormally high levels of sodium in the blood. Infants and individuals that are intubated are at highest risk.", "canonical_name": "Hypernatremic dehydration"} {"concept_id": "C1850558", "aliases": [], "types": ["T033"], "canonical_name": "Horizontal sacrum"} {"concept_id": "C1850573", "aliases": ["Asthenic habitus", "Slender build"], "types": ["T033"], "canonical_name": "Slender build", "definition": "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. [HPO:probinson]"} {"concept_id": "C1850601", "aliases": ["Abnormal shape of brainstem", "Abnormality of brainstem morphology", "Abnormality of the brainstem"], "types": ["T190"], "canonical_name": "Abnormal brainstem morphology", "definition": "An anomaly of the brainstem. [HPO:probinson]"} {"concept_id": "C1850628", "aliases": [], "types": ["T033"], "canonical_name": "Prominent columella"} {"concept_id": "C1850629", "aliases": ["Cupid's bow, accentuated", "Exaggerated cupid's bow", "Cupid bow upper lip", "Prominent cupid-bow of upper lip", "Cupid-bow shaped upper lip"], "types": ["T033"], "canonical_name": "Exaggerated cupid's bow", "definition": "More pronounced paramedian peaks and median notch of the Cupid's bow. [PMID:19125428]"} {"concept_id": "C1850630", "aliases": ["Broad outermost finger bone", "Broad distal phalanges", "Broad, square ends of distal phalanges", "Spatulate terminal phalanges", "Broad terminal phalanges", "Broad distal phalanx", "Broad distal phalanges of the hand"], "types": ["T033"], "canonical_name": "Broad distal phalanx of finger", "definition": "Abnormally wide (broad) distal phalanx of finger. [HPO:sdoelken]"} {"concept_id": "C1850631", "aliases": ["Small 3rd metacarpals", "Shortened 3rd long bone of hand", "Hypoplastic 3rd metacarpal", "Short third metacarpals"], "types": ["T033"], "canonical_name": "Short 3rd metacarpal", "definition": "Short third metacarpal bone. [HPO:probinson]"} {"concept_id": "C1850632", "aliases": ["Rounded end part of bone"], "types": ["T033"], "canonical_name": "Rounded epiphyses"} {"concept_id": "C1850640", "aliases": ["Long eyelashes in irregular rows"], "types": ["T033"], "canonical_name": "Long eyelashes in irregular rows"} {"concept_id": "C1850642", "aliases": ["Flattended end part of thigh bone"], "types": ["T033"], "canonical_name": "Flattened femoral epiphysis", "definition": "An abnormal flattening of an epiphysis of femur. [HPO:probinson]"} {"concept_id": "C1850644", "aliases": [], "types": ["T033"], "canonical_name": "Anterior bowing of long bones", "definition": "An abnormal anterior curvature of a long bone. [HPO:probinson]"} {"concept_id": "C1850656", "aliases": [], "types": ["T033"], "canonical_name": "Firm muscles"} {"concept_id": "C1850658", "aliases": ["Irregular thighbone end part"], "types": ["T033"], "canonical_name": "Irregular femoral epiphysis"} {"concept_id": "C1850663", "aliases": [], "types": ["T033"], "canonical_name": "Muscle hypertrophy of the lower extremities", "definition": "Muscle hypertrophy primarily affecting the legs. [HPO:curators]"} {"concept_id": "C1850667", "aliases": [], "types": ["T033"], "canonical_name": "Highly variable phenotype and severity"} {"concept_id": "C1850674", "aliases": [], "types": ["T047"], "definition": "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as \"minicores\" on ATPase staining as a result of focal defects in oxidative activity.", "canonical_name": "Minicore myopathy"} {"concept_id": "C1850719", "aliases": ["Recurrent cerebellar and extrapyramidal encephalopathy"], "types": ["T033"], "canonical_name": "Recurrent encephalopathy", "definition": "Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections. [HPO:probinson]"} {"concept_id": "C1850722", "aliases": [], "types": ["T033"], "canonical_name": "Transient hyperlipidemia"} {"concept_id": "C1850776", "aliases": [], "types": ["T033"], "canonical_name": "Rapidly progressive disorder"} {"concept_id": "C1850780", "aliases": ["Reduced leukocyte ALP", "Low leukocyte alkaline phosphatase"], "types": ["T033"], "canonical_name": "Reduced leukocyte alkaline phosphatase", "definition": "Decreased alkaline phosphatase measured within leukocytes. [HPO:probinson]"} {"concept_id": "C1850794", "aliases": ["Proximal muscle wasting", "Symmetric proximal muscular atrophy", "Wasting of muscles near the body", "Symmetrical, proximal limb muscle atrophy", "Muscle atrophy, proximal", "Proximal muscle atrophy"], "types": ["T047"], "canonical_name": "Proximal amyotrophy", "definition": "Amyotrophy (muscular atrophy) affecting the proximal musculature. [HPO:probinson]"} {"concept_id": "C1850816", "aliases": ["Decreased or absent ankle reflexes", "Decreased/absent ankle reflexes"], "types": ["T033"], "canonical_name": "Decreased/absent ankle reflexes"} {"concept_id": "C1850830", "aliases": ["Muscle pain on exercise", "Muscle pain, exercise-induced", "Muscle pain with exercise", "Exercise-induced muscle pain"], "types": ["T184"], "canonical_name": "Exercise-induced myalgia", "definition": "The occurrence of an unusually high amount of muscle pain following exercise. [HPO:probinson]"} {"concept_id": "C1850848", "aliases": ["Muscle fibre necrosis"], "types": ["T046"], "canonical_name": "Muscle fiber necrosis", "definition": "Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. [HPO:curators]"} {"concept_id": "C1850851", "aliases": [], "types": ["T033"], "canonical_name": "Distal joint laxity", "definition": "Lack of stability of a distal joint (e.g., finger). []"} {"concept_id": "C1850853", "aliases": ["Increased laxity of wrists", "Increased wrist mobility"], "types": ["T033"], "canonical_name": "Hyperextensibility at wrists", "definition": "The ability of the wrist joints to move beyond their normal range of motion. [HPO:curators]"} {"concept_id": "C1850854", "aliases": [], "types": ["T033"], "canonical_name": "Increased laxity of ankles"} {"concept_id": "C1850855", "aliases": [], "types": ["T033"], "canonical_name": "Increased laxity of fingers"} {"concept_id": "C1850871", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplasia of the pyramidal tract"} {"concept_id": "C1850961", "aliases": [], "types": ["T019"], "canonical_name": "Anterior basal encephalocele"} {"concept_id": "C1850968", "aliases": ["Central cleft palate", "Midline cleft palate"], "types": ["T019"], "canonical_name": "Median cleft palate", "definition": "Cleft palate of the midline of the palate. [HPO:probinson]"} {"concept_id": "C1850970", "aliases": [], "types": ["T033"], "canonical_name": "Frontal cutaneous lipoma", "definition": "Presence of a cutaneous lipoma on the forehead. [HPO:probinson]"} {"concept_id": "C1851009", "aliases": ["Oral mucosa epithelial hyperplasia", "Focal epithelial hyperplasia of oral mucosa"], "types": ["T191"], "definition": "The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate. [PMID:23204755]", "canonical_name": "Focal epithelial hyperplasia of the lining of mouth"} {"concept_id": "C1851059", "aliases": ["Columella, broad", "Increased width of columella", "Columella, wide", "Fullness of columella"], "types": ["T033"], "canonical_name": "Broad columella", "definition": "Increased width of the columella. [PMID:19152422]"} {"concept_id": "C1851085", "aliases": [], "types": ["T048"], "definition": "A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [DDD:hvfirth]", "canonical_name": "Severe expressive language delay"} {"concept_id": "C1851087", "aliases": [], "types": ["T033"], "canonical_name": "Agenesis of the anterior commissure", "definition": "Absence of the anterior commissure. [UToronto:bgallinger]"} {"concept_id": "C1851095", "aliases": [], "types": ["T033"], "canonical_name": "Lumbosacral hirsutism", "definition": "Abnormally increased hair growth in the lumbosacral region. [HPO:curators]"} {"concept_id": "C1851100", "aliases": ["Mirror image polydactyly"], "types": ["T047"], "definition": "A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes. [HPO:sdoelken, PMID:19125433]", "canonical_name": "Mirror image duplication of digits"} {"concept_id": "C1851107", "aliases": [], "types": ["T033"], "canonical_name": "Levator palpebrae superioris atrophy", "definition": "Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. [HPO:probinson]"} {"concept_id": "C1851108", "aliases": ["Rectus superior atrophy"], "types": ["T033"], "canonical_name": "Superior rectus atrophy", "definition": "Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe. [HPO:probinson]"} {"concept_id": "C1851119", "aliases": ["Dilatation of the aortic arch"], "types": ["T033"], "canonical_name": "Aortic arch dilatation"} {"concept_id": "C1851129", "aliases": [], "types": ["T033"], "canonical_name": "Progressive cervical vertebral spine fusion"} {"concept_id": "C1851130", "aliases": ["Small cervical vertebrae"], "types": ["T033"], "canonical_name": "Small cervical vertebral bodies", "definition": "Reduced size of cervical vertebrae. [HPO:probinson]"} {"concept_id": "C1851303", "aliases": ["Abnormal collecting system", "Abnormality of the renal collecting system", "Renal collecting system anomalies"], "types": ["T190"], "canonical_name": "Abnormal renal collecting system morphology", "definition": "An abnormality of the renal collecting system. [HPO:probinson]"} {"concept_id": "C1851310", "aliases": ["Absent/underdeveloped thighbone", "Hypoplastic to absent femora", "Absent/small thighbone", "Hypoplastic/aplastic femora"], "types": ["T033"], "canonical_name": "Aplasia/hypoplasia of the femur", "definition": "Absence or underdevelopment of the femur. [HPO:probinson]"} {"concept_id": "C1851313", "aliases": ["Limited shoulder movement"], "types": ["T033"], "canonical_name": "Limited shoulder movement", "definition": "A limitation of the range of movement of the shoulder joint. [HPO:probinson]"} {"concept_id": "C1851400", "aliases": ["Facial hypertrichosis"], "types": ["T033"], "definition": "Excessive, increased hair growth located in the facial region. []", "canonical_name": "Increased facial hair growth"} {"concept_id": "C1851406", "aliases": [], "types": ["T033"], "canonical_name": "Peripheral retinal avascularization"} {"concept_id": "C1851414", "aliases": [], "types": ["T033"], "canonical_name": "Peripheral nerve compression"} {"concept_id": "C1851415", "aliases": ["Shoulder bone exostoes", "Scapular exostoses"], "types": ["T191"], "definition": "The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage. [HPO:probinson]", "canonical_name": "Scapulae exostoses"} {"concept_id": "C1851418", "aliases": ["Protuberances at ends of long bones"], "types": ["T033"], "canonical_name": "Protuberances at ends of long bones", "definition": "The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. [HPO:probinson]"} {"concept_id": "C1851419", "aliases": [], "types": ["T033"], "canonical_name": "Madelung-like forearm deformities"} {"concept_id": "C1851430", "aliases": [], "types": ["T033"], "canonical_name": "Subcortical white matter calcifications"} {"concept_id": "C1851431", "aliases": [], "types": ["T033"], "canonical_name": "Cerebellar calcifications"} {"concept_id": "C1851542", "aliases": ["Limited hip movement"], "types": ["T033"], "canonical_name": "Limited hip movement", "definition": "A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. [HPO:probinson]"} {"concept_id": "C1851551", "aliases": [], "types": ["T033"], "canonical_name": "Mottled pigmentation of the trunk and proximal extremities"} {"concept_id": "C1851552", "aliases": [], "types": ["T033"], "canonical_name": "Discrete 2 to 5-mm hyper- and hypopigmented macules"} {"concept_id": "C1851562", "aliases": [], "types": ["T033"], "canonical_name": "Skin fragility with non-scarring blistering"} {"concept_id": "C1851582", "aliases": [], "types": ["T047"], "canonical_name": "Epiblepharon of upper lid"} {"concept_id": "C1851583", "aliases": [], "types": ["T047"], "canonical_name": "Epiblepharon of lower lid"} {"concept_id": "C1851585", "aliases": [], "types": ["T047"], "canonical_name": "Malignant eosinophil proliferation"} {"concept_id": "C1851612", "aliases": ["Narrowing of bone marrow canal", "Medullary cavity obliteration", "Narrowing of bone medullary canal", "Narrowing of the marrow cavity"], "types": ["T033"], "canonical_name": "Narrowing of medullary canal", "definition": "A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located. [PMID:15894597]"} {"concept_id": "C1851697", "aliases": [], "types": ["T191"], "canonical_name": "Pancreatic islet cell adenoma", "definition": "The presence of an adenoma of the pancreas with origin in a pancreatic B cell. [HPO:probinson]"} {"concept_id": "C1851705", "aliases": [], "types": ["T033"], "canonical_name": "Confetti-like hypopigmented macules"} {"concept_id": "C1851712", "aliases": [], "types": ["T033"], "canonical_name": "Dural ectasia", "definition": "A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. [HPO:sdoelken]"} {"concept_id": "C1851714", "aliases": ["Sclerotic skull base", "Sclerosis of cranial base", "Hyperossification of skull base", "Dense bone of skull base", "Marked sclerosis of skull base", "Hyperostosis of skull base", "Sclerosis of the skull base"], "types": ["T033"], "canonical_name": "Sclerosis of skull base", "definition": "Increased bone density of the skull base without significant changes in bony contour. [HPO:probinson]"} {"concept_id": "C1851720", "aliases": [], "types": ["T033"], "canonical_name": "Adrenocortical cytomegaly", "definition": "The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. [HPO:probinson]"} {"concept_id": "C1851722", "aliases": ["Overgrowth of external genitalia"], "types": ["T033"], "canonical_name": "Overgrowth of external genitalia"} {"concept_id": "C1851731", "aliases": ["Generalised overgrowth"], "types": ["T033"], "canonical_name": "Generalized overgrowth"} {"concept_id": "C1851733", "aliases": [], "types": ["T033"], "canonical_name": "Pancreatic hyperplasia", "definition": "Hyperplasia of the pancreas. [HPO:probinson]"} {"concept_id": "C1851759", "aliases": [], "types": ["T033"], "definition": "EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz). [HPO:jalbers]", "canonical_name": "Low voltage EEG"} {"concept_id": "C1851789", "aliases": ["Poor wound healing"], "types": ["T033"], "canonical_name": "Poor wound healing", "definition": "A reduced ability to heal cutaneous wounds. [HPO:probinson]"} {"concept_id": "C1851792", "aliases": ["Aplasia/Hypoplasia of the earlobes", "Absent/small ear lobes"], "types": ["T019"], "definition": "Absence or underdevelopment of the ear lobes. [HPO:curators]", "canonical_name": "Absent/underdeveloped ear lobes"} {"concept_id": "C1851797", "aliases": ["Cutis gyrata of palms and soles"], "types": ["T033"], "canonical_name": "Palmoplantar cutis gyrata", "definition": "Cutis gyrata of palms and soles. [HPO:probinson]"} {"concept_id": "C1851808", "aliases": [], "types": ["T033"], "canonical_name": "Premature delivery because of cervical insufficiency or membrane fragility"} {"concept_id": "C1851811", "aliases": ["Increased mobility of outermost hinge joint"], "types": ["T033"], "canonical_name": "Hypermobility of distal interphalangeal joints"} {"concept_id": "C1851828", "aliases": ["Cigarette paper scarring", "'cigarette paper scarring'", "Cigarette-paper scars"], "types": ["T033"], "canonical_name": "Cigarette-paper scars", "definition": "Thin (atrophic) and wide scars. [HPO:probinson]"} {"concept_id": "C1851833", "aliases": ["Premature birth following premature rupture of foetal membranes"], "types": ["T033"], "canonical_name": "Premature birth following premature rupture of fetal membranes"} {"concept_id": "C1851835", "aliases": ["Transverse maxillary insufficiency", "Transverse maxillary deficiency", "Narrow maxilla", "Decreased transverse dimension of maxilla", "Decreased breadth of upper jaw bones", "Decreased width of upper jaw bones", "Narrow upper jaw bones", "Transverse hypoplasia of maxilla"], "types": ["T190"], "canonical_name": "Decreased width of maxilla"} {"concept_id": "C1851853", "aliases": ["Midline cleft of maxillary alveolar process", "Midline cleft of upper alveolar ridge", "Midline notch of maxillary alveolar ridge", "Midline notch of maxillary alveolar process", "Midline notch of upper gum ridge"], "types": ["T033"], "canonical_name": "Midline notch of upper alveolar ridge"} {"concept_id": "C1851854", "aliases": ["Thin tooth enamel"], "types": ["T033"], "canonical_name": "Thin dental enamel"} {"concept_id": "C1851855", "aliases": ["Duplicated first metatarsals", "Duplicated 1st long bone of foot"], "types": ["T019"], "canonical_name": "Duplication of the 1st metatarsal", "definition": "A developmental defect consisting in the duplication of the first metatarsal bone. [HPO:probinson]"} {"concept_id": "C1851868", "aliases": [], "types": ["T033"], "canonical_name": "Reduced tensile strength of hair"} {"concept_id": "C1851883", "aliases": ["Small, cone shaped teeth", "Conical microdontia"], "types": ["T033"], "canonical_name": "Small, conical teeth"} {"concept_id": "C1851885", "aliases": [], "types": ["T033"], "canonical_name": "Progressive alopecia", "definition": "Progressive loss of hair. [HPO:probinson]"} {"concept_id": "C1851897", "aliases": ["Transverse earlobe creases", "Earlobe crease"], "types": ["T033"], "canonical_name": "Anterior creases of earlobe", "definition": "Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. [PMID:19152421]"} {"concept_id": "C1851915", "aliases": ["Facial Dystonia"], "types": ["T047"], "canonical_name": "Abnormal facial muscle tone"} {"concept_id": "C1851936", "aliases": ["Choreoathetosis, intermittent", "Choreoathetosis, episodic"], "types": ["T033"], "definition": "Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. [HPO:probinson]", "canonical_name": "Paroxysmal choreoathetosis"} {"concept_id": "C1851959", "aliases": [], "types": ["T033"], "canonical_name": "Fluctuations in consciousness"} {"concept_id": "C1851971", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic myelodysplasia"} {"concept_id": "C1851972", "aliases": ["Reticulate hyperpigmentation"], "types": ["T033"], "canonical_name": "Reticular hyperpigmentation", "definition": "Increased pigmentation of the skin with a netlike (reticular) pattern. [HPO:probinson]"} {"concept_id": "C1851988", "aliases": [], "types": ["T033"], "canonical_name": "Dorsal subluxation of ulna", "definition": "Partial dislocation of the ulna in the dorsal direction. [HPO:curators]"} {"concept_id": "C1852148", "aliases": ["Mottled pigmentation of oral mucosa", "Reticulate pigmentation of oral mucous membrane"], "types": ["T033"], "canonical_name": "Reticulate pigmentation of oral mucosa", "definition": "A net-like pattern of increased pigmentation of the oral cavity. [HPO:probinson]"} {"concept_id": "C1852150", "aliases": [], "types": ["T033"], "canonical_name": "Adermatoglyphia"} {"concept_id": "C1852169", "aliases": ["Periapical radiolucency", "Periapical lesion", "Periapical radiolucencies", "Dark spot around tooth root on x-ray"], "types": ["T033"], "canonical_name": "Periapical bone loss", "definition": "Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root). [HPO:ibailleulforestier]"} {"concept_id": "C1852242", "aliases": ["Nonarteritic anterior ischaemic optic neuropathy"], "types": ["T047"], "definition": "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. [HPO:probinson, PMID:17698200]", "canonical_name": "Nonarteritic anterior ischemic optic neuropathy"} {"concept_id": "C1852289", "aliases": [], "types": ["T033"], "canonical_name": "Autoamputation of digits"} {"concept_id": "C1852301", "aliases": [], "types": ["T033"], "canonical_name": "Plantar pits", "definition": "The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. [HPO:probinson]"} {"concept_id": "C1852311", "aliases": [], "types": ["T033"], "canonical_name": "Subungual hyperkeratotic fragments"} {"concept_id": "C1852373", "aliases": [], "types": ["T047"], "canonical_name": "Mitochondrial encephalopathy"} {"concept_id": "C1852407", "aliases": ["Prominent perineal raphe"], "types": ["T033"], "canonical_name": "Prominent scrotal raphe", "definition": "Increased size of the ridge of tissue that extends along the midline of the scrotum. [HPO:probinson]"} {"concept_id": "C1852411", "aliases": ["Preauricular skin sulcus", "Skin groove in front of the ear", "Preauricular skin furrows", "Skin sulcus in front of the ear", "Preauricular skin groove"], "types": ["T033"], "canonical_name": "Preauricular skin furrow", "definition": "A groove of the skin immediately in front of the ear. [HPO:probinson]"} {"concept_id": "C1852438", "aliases": ["Nuclear pulverulent cataract", "Pulverulent nuclear cataract", "Central pulverulent cataract", "Coppock-like cataract"], "types": ["T047"], "definition": "A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus. [HPO:probinson, PMID:10634616, PMID:14059288]", "canonical_name": "cataracta pulverulenta centralis"} {"concept_id": "C1852464", "aliases": ["Abnormality of cervical vertebra", "Abnormality of the cervical vertebrae", "Disorder of cervical vertebra", "Cervical vertebral abnormalities", "Abnormal cervical spine", "Cervical spine abnormalities", "Cervical vertebral anomalies"], "types": ["T033"], "canonical_name": "Abnormality of the cervical spine", "definition": "Any abnormality of the cervical vertebral column. [HPO:probinson]"} {"concept_id": "C1852470", "aliases": [], "types": ["T033"], "canonical_name": "Extrapyramidal muscular rigidity", "definition": "Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). [HPO:probinson]"} {"concept_id": "C1852476", "aliases": ["Loss of facial expression"], "types": ["T033"], "canonical_name": "Loss of facial expression"} {"concept_id": "C1852504", "aliases": ["Abnormal dental position", "Tooth malposition", "Malpositioned teeth", "Malaligned teeth", "Abnormal teeth spacing", "Crooked teeth", "Abnormality of alignment of teeth", "Teeth, malposition", "Misalignment of teeth", "Malposition of teeth"], "types": ["T033"], "definition": "Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. [HPO:ibailleulforestier]", "canonical_name": "Abnormality of teeth spacing"} {"concept_id": "C1852534", "aliases": ["Underdeveloped male genitalia", "Hypoplastic male genitalia", "Small male external genitalia"], "types": ["T033"], "canonical_name": "Hypoplastic male external genitalia", "definition": "Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). [HPO:probinson]"} {"concept_id": "C1852539", "aliases": [], "types": ["T033"], "definition": "Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e. []", "canonical_name": "Susceptibility to coronavirus 229e"} {"concept_id": "C1852548", "aliases": [], "types": ["T033"], "canonical_name": "Absent retinal pigment epithelium"} {"concept_id": "C1852767", "aliases": ["Coloboma of the macula"], "types": ["T019"], "definition": "A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented. [DDD:gblack, PMID:15069441]", "canonical_name": "Macular coloboma"} {"concept_id": "C1853141", "aliases": ["Slow decrease in sharpness of vision", "Subacute deterioration of visual acuity"], "types": ["T033"], "canonical_name": "Slow decrease in visual acuity"} {"concept_id": "C1853171", "aliases": ["Congenital bone fractures", "Numerous multiple fractures present at birth", "Multiple fractures, present at birth", "Numerous multiple fractures that are present at birth", "Multiple fractures present at birth"], "types": ["T033"], "canonical_name": "Multiple prenatal fractures", "definition": "The presence of bone fractures in the prenatal period that are diagnosed at birth or before. [HPO:curators]"} {"concept_id": "C1853188", "aliases": [], "types": ["T047"], "canonical_name": "Interhemispheric cyst", "definition": "Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system. [PMID:27195030]"} {"concept_id": "C1853193", "aliases": ["Recurrent skin infections", "Skin infections, recurrent"], "types": ["T047"], "definition": "Infections of the skin that happen multiple times. [HPO:curators]", "canonical_name": "Cutaneous infections"} {"concept_id": "C1853234", "aliases": [], "types": ["T033"], "canonical_name": "Anterior segment of eye aplasia"} {"concept_id": "C1853235", "aliases": ["Hardening of skin and connective tissue"], "types": ["T047"], "definition": "A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. [HPO:probinson]", "canonical_name": "Sclerocornea"} {"concept_id": "C1853237", "aliases": ["No previous family history", "Sporadic"], "types": ["T033"], "definition": "Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. [HPO:probinson]", "canonical_name": "Isolated cases"} {"concept_id": "C1853238", "aliases": ["Conotruncal heart defects"], "types": ["T019"], "canonical_name": "Conotruncal defect", "definition": "A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. [HPO:probinson]"} {"concept_id": "C1853241", "aliases": ["Flat facial shape", "Flat face", "Flat facies", "Flat facial profile"], "types": ["T033"], "canonical_name": "Flat face", "definition": "Absence of concavity or convexity of the face when viewed in profile. [PMID:19125436]"} {"concept_id": "C1853242", "aliases": ["Hypoplasia of midface", "Midface deficiency", "Decreased size of midface", "Retrusive midface", "Midface hypoplasia", "Midface, flat", "Midface retrusion", "Underdevelopment of midface"], "types": ["T190"], "definition": "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. [DDD:jclayton-smith, PMID:19125436]", "canonical_name": "Flat midface"} {"concept_id": "C1853246", "aliases": ["Outward turned lower lip", "Everted lower lip", "Eclabium of lower lip", "Everted prominent lower lip", "Everted lower lip vermilion"], "types": ["T033"], "definition": "An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. [PMID:19125428]", "canonical_name": "Drooping lower lip"} {"concept_id": "C1853288", "aliases": ["Increased RBC mass"], "types": ["T033"], "canonical_name": "Increased red blood cell mass", "definition": "The presence of an increased mass of red blood cells in the circulation. [HPO:probinson]"} {"concept_id": "C1853377", "aliases": ["Large cisterna magna"], "types": ["T033"], "canonical_name": "Enlarged cisterna magna", "definition": "Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. [HPO:probinson]"} {"concept_id": "C1853383", "aliases": [], "types": ["T033"], "canonical_name": "Tented mouth"} {"concept_id": "C1853394", "aliases": ["Nystagmus, horizontal gaze-evoked", "Nystagmus, horizontal, gaze-evoked"], "types": ["T033"], "canonical_name": "Gaze-evoked horizontal nystagmus", "definition": "Horizontal nystagmus made apparent by looking to the right or to the left. [HPO:curators]"} {"concept_id": "C1853398", "aliases": [], "types": ["T033"], "canonical_name": "Spasticity of pharyngeal muscles"} {"concept_id": "C1853404", "aliases": ["Spasticity of the facial muscles"], "types": ["T033"], "canonical_name": "Spasticity of facial muscles", "definition": "Spasticity of one or more muscles innervated by the facial nerve. []"} {"concept_id": "C1853406", "aliases": ["Difficulty in tongue movements", "Difficulty in lingual movements"], "types": ["T033"], "canonical_name": "Difficulty in tongue movements"} {"concept_id": "C1853482", "aliases": ["Pear-shaped nose"], "types": ["T033"], "canonical_name": "Pear-shaped nose"} {"concept_id": "C1853486", "aliases": ["Pointed frontal hairline", "Pointed hairline at front of head", "V-shaped frontal hairline", "Hairline peak", "Hairline point", "Widow's peak"], "types": ["T033"], "canonical_name": "Widow's peak", "definition": "Frontal hairline with bilateral arcs to a low point in the midline of the forehead. [PMID:19125436]"} {"concept_id": "C1853487", "aliases": ["Hypertrichosis of the eyebrows", "Hypertrichosis of the eyebrow", "Heavy eyebrows", "Prominent eyebrows", "Bushy eyebrows", "Thick eyebrows", "Thick eyebrow", "Dense eyebrow"], "types": ["T033"], "canonical_name": "Thick eyebrow", "definition": "Increased density/number and/or increased diameter of eyebrow hairs. [PMID:19125427]"} {"concept_id": "C1853558", "aliases": ["Jerky smooth pursuit"], "types": ["T033"], "canonical_name": "Jerky ocular pursuit movements"} {"concept_id": "C1853562", "aliases": ["Symptoms begin in adulthood", "Onset in early adulthood", "Onset in adulthood"], "types": ["T033"], "canonical_name": "Adult onset", "definition": "Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. [HPO:probinson]"} {"concept_id": "C1853573", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic inferior pubic rami"} {"concept_id": "C1853618", "aliases": ["Dilated Virchow-Robin spaces", "Dilation of Virchow-Robin spaces"], "types": ["T033"], "definition": "Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. [ORCID:0000-0001-5208-3432, PMID:17620468, PMID:23867200, PMID:25564639]", "canonical_name": "Perivascular spaces"} {"concept_id": "C1853638", "aliases": ["Broad neck", "Increased width of neck", "Thick neck", "Wide neck"], "types": ["T033"], "canonical_name": "Broad neck", "definition": "Increased side-to-side width of the neck. [HPO:probinson]"} {"concept_id": "C1853701", "aliases": [], "types": ["T033"], "canonical_name": "Muscle hyperirritability"} {"concept_id": "C1853702", "aliases": [], "types": ["T033"], "canonical_name": "Muscle mounding"} {"concept_id": "C1853729", "aliases": [], "types": ["T033"], "canonical_name": "Weakness of the vocal cords"} {"concept_id": "C1853737", "aliases": ["Protruding occiput", "Prominent back of the skull", "Prominent posterior cranium", "Prominent posterior skull"], "types": ["T033"], "canonical_name": "Prominent occiput", "definition": "Increased convexity of the occiput (posterior part of the skull). [PMID:19125436]"} {"concept_id": "C1853738", "aliases": ["Eyelash trichomegaly", "Unusually long eyelashes", "Ciliary trichomegaly", "Long eyelashes", "Increased length of eyelashes"], "types": ["T033"], "canonical_name": "Long eyelashes", "definition": "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). [PMID:19125427, PMID:26288407]"} {"concept_id": "C1853743", "aliases": ["Low muscle tone in trunk", "Truncal hypotonia", "Muscular hypotonia of the trunk"], "types": ["T033"], "canonical_name": "Axial hypotonia", "definition": "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. [HPO:curators]"} {"concept_id": "C1853766", "aliases": ["Cerebellopontine atrophy"], "types": ["T047"], "canonical_name": "Pontocerebellar atrophy", "definition": "Atrophy affecting the pons and the cerebellum. [HPO:probinson]"} {"concept_id": "C1853767", "aliases": ["Decreased distal vibration sense"], "types": ["T033"], "canonical_name": "Impaired distal vibration sensation", "definition": "A decrease in the ability to perceive vibration in the distal portions of the limbs. [HPO:probinson]"} {"concept_id": "C1853903", "aliases": [], "types": ["T033"], "canonical_name": "Decreased fumarate hydratase activity", "definition": "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity. [HPO:probinson]"} {"concept_id": "C1853932", "aliases": ["Rimmed vacuoles", "'rimmed' vacuoles on biopsy"], "types": ["T033"], "definition": "Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. [HPO:probinson]", "canonical_name": "'rimmed vacuoles' on biopsy"} {"concept_id": "C1853934", "aliases": [], "types": ["T033"], "canonical_name": "Deposits immunoreactive to beta-amyloid protein"} {"concept_id": "C1853950", "aliases": ["Generalised hypotonia due to defect at the neuromuscular junction"], "types": ["T033"], "canonical_name": "Generalized hypotonia due to defect at the neuromuscular junction"} {"concept_id": "C1853952", "aliases": ["Small miniature endplate currents", "Small miniature endplate potentials", "Decreased MEPP"], "types": ["T033"], "canonical_name": "Decreased miniature endplate potentials", "definition": "An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. [HPO:probinson]"} {"concept_id": "C1853986", "aliases": [], "types": ["T033"], "canonical_name": "Platonychia", "definition": "Abnormal flat nail. [HPO:probinson]"} {"concept_id": "C1854013", "aliases": [], "types": ["T190"], "definition": "The presence of asymmetrical breasts. [HPO:probinson]", "canonical_name": "Asymmetry of the breasts"} {"concept_id": "C1854111", "aliases": ["Wide philtrum", "Increased horizontal dimension of philtrum", "Increased width of philtrum", "Increased transverse dimension of philtrum", "Increased breadth of philtrum"], "types": ["T033"], "canonical_name": "Broad philtrum", "definition": "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. [PMID:19152422]"} {"concept_id": "C1854113", "aliases": ["Prominent nasal root", "Protruding bridge of nose", "High nasal bridge", "Protruding nasal bridge", "Prominent bridge of nose", "Prominent nasal bridge", "Elevated nasal bridge"], "types": ["T033"], "canonical_name": "Prominent nasal bridge", "definition": "Anterior positioning of the nasal root in comparison to the usual positioning for age. [PMID:19152422]"} {"concept_id": "C1854114", "aliases": ["Hypoplastic nose", "Shortened nose", "Nasal hypoplasia", "Decreased length of nose", "Short nose"], "types": ["T033"], "canonical_name": "Short nose", "definition": "Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. [HPO:probinson, PMID:19152422]"} {"concept_id": "C1854301", "aliases": ["Delay in motor development", "Delayed motor development", "Retarded motor development", "Motor developmental delay", "Motor retardation", "Locomotor delay", "Delayed motor milestones", "Motor developmental milestones not achieved", "Motor delay"], "types": ["T033"], "definition": "Failure to meet, or late achievement of motor development milestones.", "canonical_name": "Delayed early motor milestones"} {"concept_id": "C1854302", "aliases": [], "types": ["T033"], "canonical_name": "Involuntary jerking movements"} {"concept_id": "C1854372", "aliases": ["Decreased vibration sense at ankles", "Impaired vibration sensation at ankles", "Decreased vibration sense in feet"], "types": ["T033"], "canonical_name": "Impaired vibration sensation at ankles", "definition": "A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. [HPO:probinson]"} {"concept_id": "C1854375", "aliases": [], "types": ["T190"], "canonical_name": "Saccadic intrusion", "definition": "An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade. [UManchester:psergouniotis]"} {"concept_id": "C1854387", "aliases": ["Type I muscle fibre predominance", "Type I muscle fiber predominance", "Type 1 muscle fibre predominance"], "types": ["T033"], "canonical_name": "Type 1 muscle fiber predominance", "definition": "An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). [HPO:probinson]"} {"concept_id": "C1854408", "aliases": ["Glabellar capillary hemangioma"], "types": ["T191"], "canonical_name": "Glabellar hemangioma"} {"concept_id": "C1854409", "aliases": ["Port-wine stain on eyelid"], "types": ["T033"], "canonical_name": "Naevus flammeus of the eyelid", "definition": "Naevus flammeus localised in the skin of the eyelid. [HPO:sdoelken]"} {"concept_id": "C1854417", "aliases": ["Macrocephaly, postnatal"], "types": ["T033"], "canonical_name": "Postnatal macrocephaly", "definition": "The postnatal development of an abnormally large skull (macrocephaly). [HPO:probinson]"} {"concept_id": "C1854418", "aliases": [], "types": ["T033"], "canonical_name": "Biparietal narrowing", "definition": "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). [HPO:curators]"} {"concept_id": "C1854454", "aliases": ["Regenerative activity on nerve biopsy"], "types": ["T033"], "canonical_name": "Axonal regeneration", "definition": "The presence of axonal regeneration following a previous axonal lesion. [HPO:probinson]"} {"concept_id": "C1854489", "aliases": [], "types": ["T033"], "canonical_name": "Limb dysmetria", "definition": "A type of dysmetria involving the limbs. [HPO:probinson]"} {"concept_id": "C1854494", "aliases": ["Slowly progressive disorder", "Signs and symptoms worsen slowly with time", "Slow disease progression", "Slow progression"], "types": ["T033"], "canonical_name": "Slowly progressive", "definition": "Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. []"} {"concept_id": "C1854495", "aliases": ["Recurrent gastrointestinal infections", "Recurrent infection of the gastrointestinal tract", "Gastrointestinal infections, recurrent", "Recurrent infection of the GI tract"], "types": ["T047"], "canonical_name": "Recurrent infection of the gastrointestinal tract", "definition": "Recurrent infection of the gastrointestinal tract. [HPO:probinson]"} {"concept_id": "C1854510", "aliases": ["Cranial nerve involvement", "Cranial nerve abnormality", "Cranial nerve disease", "Abnormality of the cranial nerves", "Abnormal cranial nerve morphology"], "types": ["T190"], "definition": "Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. [HPO:probinson]", "canonical_name": "Abnormality of cranial nerve"} {"concept_id": "C1854570", "aliases": [], "types": ["T033"], "canonical_name": "Distal motor neuropathy"} {"concept_id": "C1854610", "aliases": ["Metacarpals osteolysis"], "types": ["T033"], "canonical_name": "Metacarpal osteolysis"} {"concept_id": "C1854614", "aliases": ["Osteolysis involving metatarsal bones"], "types": ["T033"], "canonical_name": "Metatarsal osteolysis", "definition": "Osteolysis involving metatarsal bones. [HPO:probinson]"} {"concept_id": "C1854657", "aliases": ["Limb fasciculation"], "types": ["T033"], "canonical_name": "Limb fasciculations", "definition": "Fasciculations affecting the musculature of the arms and legs. [HPO:curators]"} {"concept_id": "C1854685", "aliases": ["Underdeveloped retina", "Retinal hypoplasia"], "types": ["T019"], "canonical_name": "Hypoplasia of the retina"} {"concept_id": "C1854686", "aliases": [], "types": ["T033"], "canonical_name": "Uncontrolled eye movements"} {"concept_id": "C1854689", "aliases": ["Short nasal bridge", "Decreased length of nasal bridge", "Short bridge of nose", "Decreased length of bridge of nose"], "types": ["T033"], "canonical_name": "Short nasal bridge", "definition": "Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. []"} {"concept_id": "C1854699", "aliases": [], "types": ["T033"], "canonical_name": "Diffuse cerebellar atrophy", "definition": "Diffuse unlocalised atrophy affecting the cerebellum. [HPO:sdoelken]"} {"concept_id": "C1854704", "aliases": [], "types": ["T046"], "definition": "A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake. []", "canonical_name": "Metabolic ketoacidosis"} {"concept_id": "C1854718", "aliases": ["Hour glass shaped pituitary fossa", "Omega shaped sella turcica", "Hour glass shaped hypophysial fossa", "Hour glass shaped sella turcica", "J-shaped sella"], "types": ["T033"], "canonical_name": "J-shaped sella turcica", "definition": "A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. [HPO:pnrobinson]"} {"concept_id": "C1854749", "aliases": ["Pointed proximal metacarpals", "Pointed innermost long bone of hand"], "types": ["T033"], "canonical_name": "Proximal tapering of metacarpals", "definition": "Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance. [HPO:sdoelken]"} {"concept_id": "C1854774", "aliases": ["Dermatan sulphate excretion in urine"], "types": ["T033"], "canonical_name": "Dermatan sulfate excretion in urine", "definition": "An increased concentration of dermatan sulfate in the urine. [HPO:gcarletti]"} {"concept_id": "C1854780", "aliases": ["Anterior flaring of ribs", "Flaring of rib cage"], "types": ["T033"], "canonical_name": "Flaring of rib cage", "definition": "The presence of wide, concave anterior rib ends. [HPO:curators]"} {"concept_id": "C1854783", "aliases": ["Grey tooth shade", "Grayish enamel", "Gray colored tooth enamel", "Grey coloured tooth enamel", "Greyish enamel", "Gray tooth shade"], "types": ["T033"], "canonical_name": "Grayish enamel", "definition": "A grey discoloration of the dental enamel. [HPO:ibailleulforestier]"} {"concept_id": "C1854785", "aliases": ["Constricted iliac wings"], "types": ["T033"], "canonical_name": "Constricted iliac wing"} {"concept_id": "C1854786", "aliases": [], "types": ["T033"], "canonical_name": "Epiphyseal deformities of tubular bones"} {"concept_id": "C1854787", "aliases": [], "types": ["T033"], "canonical_name": "Pointed proximal second through fifth metacarpals", "definition": "All of the metacarpal bones of the hand have a pointed proximal appearance. [HPO:curators]"} {"concept_id": "C1854788", "aliases": [], "types": ["T033"], "canonical_name": "Beta-galactosidase deficiency in fibroblasts and white blood cells"} {"concept_id": "C1854827", "aliases": ["Heparan sulphate excretion in urine"], "types": ["T033"], "canonical_name": "Heparan sulfate excretion in urine", "definition": "An increased concentration of heparan sulfates in the urine. [HPO:probinson]"} {"concept_id": "C1854834", "aliases": ["Dense skull cap"], "types": ["T033"], "canonical_name": "Dense calvaria", "definition": "An abnormal increase of density of the bones making up the calvaria. [HPO:curators]"} {"concept_id": "C1854838", "aliases": ["Neurologic deterioration, progressive", "Progressive mental deterioration", "Neurologic deterioration", "Worsening neurological symptoms", "Progressive neurodegeneration"], "types": ["T033"], "canonical_name": "Progressive neurologic deterioration"} {"concept_id": "C1854882", "aliases": ["No speech or language development", "Absent speech development", "Lack of language development", "Lack of speech", "No speech development"], "types": ["T033"], "canonical_name": "Absent speech", "definition": "Complete lack of development of speech and language abilities. [HPO:probinson]"} {"concept_id": "C1854885", "aliases": ["Areas of dysmyelination on MRI", "Dysmyelination of the brain"], "types": ["T033"], "canonical_name": "Cerebral dysmyelination", "definition": "Defective structure and function of myelin sheaths of the white matter of the brain. [HPO:probinson]"} {"concept_id": "C1854910", "aliases": ["Shallow acetabular fossa"], "types": ["T033"], "canonical_name": "Shallow acetabular fossae"} {"concept_id": "C1854912", "aliases": ["Long bone shortening", "shortened long tubular bones", "Short tubular bones", "Short long bone"], "types": ["T033"], "canonical_name": "Short long bone", "definition": "One or more abnormally short long bone. [HPO:probinson]"} {"concept_id": "C1854913", "aliases": ["Soft tissue swelling of hinge joints"], "types": ["T033"], "canonical_name": "Soft tissue swelling of interphalangeal joints"} {"concept_id": "C1854919", "aliases": [], "types": ["T048"], "canonical_name": "Severe psychomotor retardation"} {"concept_id": "C1854928", "aliases": ["Belly sticks out", "Abdominal protuberance", "Extended belly"], "types": ["T033"], "canonical_name": "Protuberant abdomen", "definition": "An indication that there is unusual or prominent convexity of the abdomen on visual inspection."} {"concept_id": "C1854934", "aliases": ["Increasing size of gum ridge", "Progressive hypertrophy of alveolar process of jaw"], "types": ["T033"], "canonical_name": "Progressive alveolar ridge hypertropy"} {"concept_id": "C1854940", "aliases": ["Narrowness of interpediculate distances in lower thoracic regions"], "types": ["T033"], "canonical_name": "Lower thoracic interpediculate narrowness", "definition": "A reduction of the distance between the lower thoracic vertebral pedicles. [HPO:probinson]"} {"concept_id": "C1854941", "aliases": [], "types": ["T033"], "canonical_name": "Beaking of vertebral bodies T12-L3"} {"concept_id": "C1854948", "aliases": [], "types": ["T033"], "canonical_name": "Varus deformity of humeral neck"} {"concept_id": "C1854952", "aliases": ["Bullet-shaped hand bones", "Conical bullet-shaped distal ends of phalanges", "Bullet-shaped phalanges of the hands"], "types": ["T033"], "canonical_name": "Bullet-shaped phalanges of the hand", "definition": "The presence of short and wide phalanges which taper distally (bullet shaped\").\" [HPO:curators]"} {"concept_id": "C1855000", "aliases": ["Absent central incisors", "Failure of development of central incisor", "Absent central incisor"], "types": ["T033"], "canonical_name": "Agenesis of central incisor", "definition": "Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. [HPO:ibailleulforestier]"} {"concept_id": "C1855003", "aliases": [], "types": ["T019"], "canonical_name": "Bilateral postaxial polydactyly"} {"concept_id": "C1855005", "aliases": ["partial duplication of hallux", "Partial duplication of big toe"], "types": ["T033"], "canonical_name": "Partial duplication of the phalanges of the hallux"} {"concept_id": "C1855009", "aliases": [], "types": ["T033"], "canonical_name": "Psychomotor regression in infants"} {"concept_id": "C1855010", "aliases": ["Leukoencephalopathy, progressive"], "types": ["T033"], "canonical_name": "Progressive leukoencephalopathy", "definition": "Leukoencephalopathy that gets more severe with time. [HPO:probinson]"} {"concept_id": "C1855019", "aliases": [], "types": ["T033"], "canonical_name": "Psychomotor regression"} {"concept_id": "C1855020", "aliases": [], "types": ["T047"], "canonical_name": "Acute necrotizing encephalopathy"} {"concept_id": "C1855038", "aliases": ["Hepatocellular loss", "Death of liver cells"], "types": ["T047"], "canonical_name": "Hepatocellular necrosis"} {"concept_id": "C1855067", "aliases": ["Low B cell count", "Reduction in B cell number", "B cell lymphopenia", "Decreased B cell count", "B cell deficiency"], "types": ["T033"], "definition": "An abnormal decrease from the normal count of B cells. [HPO:probinson]", "canonical_name": "B lymphocytopenia"} {"concept_id": "C1855091", "aliases": ["Short proximal thumb phalanx", "Hypoplastic/small proximal phalanx of the thumb", "Short proximal phalanges of thumb", "Short proximal thumb bone"], "types": ["T033"], "canonical_name": "Short proximal phalanx of thumb", "definition": "Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:probinson]"} {"concept_id": "C1855106", "aliases": ["Neonatal onset", "Onset in neonatal period", "Onset in first weeks of life"], "types": ["T033"], "canonical_name": "Neonatal onset", "definition": "Onset of signs or symptoms of disease within the first 28 days of life. [HPO:probinson]"} {"concept_id": "C1855119", "aliases": ["Methylmalonic aciduria", "High blood methylmalonic acid levels"], "types": ["T047"], "definition": "Increased concentration of methylmalonic acid in the urine. [HPO:probinson]", "canonical_name": "Methymalonicaciduria"} {"concept_id": "C1855171", "aliases": ["Metacarpal/metaphyseal cupping", "Cupping of wide portion of long bone of hand"], "types": ["T033"], "canonical_name": "Metaphyseal cupping of metacarpals", "definition": "Metaphyseal cupping affecting the metacarpal bones. [HPO:curators]"} {"concept_id": "C1855177", "aliases": [], "types": ["T033"], "canonical_name": "Flat glenoid fossa", "definition": "Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. [HPO:probinson, PMID:15163819]"} {"concept_id": "C1855179", "aliases": ["Polar cataract, anterior"], "types": ["T019"], "definition": "A polar cataract that affects the anterior pole of the lens. [HPO:probinson]", "canonical_name": "Anterior polar cataract"} {"concept_id": "C1855180", "aliases": [], "types": ["T033"], "canonical_name": "Irregular iliac crest", "definition": "Irregularity of the iliac crest, which is the superior border of the wing of the ilium. [HPO:curators]"} {"concept_id": "C1855185", "aliases": ["Wide digital bones", "Broad phalanges", "Widened phalanges", "Wide phalanges"], "types": ["T033"], "canonical_name": "Broad phalanx", "definition": "Increased side-to-side width of one or more phalanges of the fingers or toes. [HPO:probinson]"} {"concept_id": "C1855191", "aliases": [], "types": ["T033"], "canonical_name": "Progressive leg bowing", "definition": "Progressive bending or abnormal curvature of the leg. [HPO:probinson]"} {"concept_id": "C1855196", "aliases": ["Flaring of lower rib cage"], "types": ["T033"], "canonical_name": "Flaring of lower rib cage"} {"concept_id": "C1855204", "aliases": [], "types": ["T033"], "canonical_name": "Cellular immunodeficiency", "definition": "An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. [http://www.dictionary.com/browse/cellular-immunodeficiency]"} {"concept_id": "C1855205", "aliases": [], "types": ["T033"], "canonical_name": "Susceptibility to chickenpox", "definition": "Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox. []"} {"concept_id": "C1855222", "aliases": ["Delayed ossification of the proximal femoral epiphysis", "Delayed ossification proximal femoral epiphyses"], "types": ["T033"], "canonical_name": "Delayed proximal femoral epiphyseal ossification", "definition": "Developmental delay of ossification of the proximal epiphysis of the femur. [HPO:probinson]"} {"concept_id": "C1855230", "aliases": [], "types": ["T019"], "canonical_name": "Focal lissencephaly", "definition": "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex. [KI:phemming]"} {"concept_id": "C1855233", "aliases": ["Large posterior fontanel"], "types": ["T033"], "canonical_name": "Large posterior fontanelle", "definition": "An enlargement of the posterior fontanelle relative to age-dependent norms. [HPO:probinson]"} {"concept_id": "C1855239", "aliases": ["Metacarpal cone-shaped epiphyses", "Cone-shaped end part of long bone"], "types": ["T033"], "canonical_name": "Cone-shaped metacarpal epiphyses", "definition": "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. [HPO:curators]"} {"concept_id": "C1855240", "aliases": ["Abnormal shape of ankle bones"], "types": ["T033"], "canonical_name": "Irregular tarsal bones"} {"concept_id": "C1855274", "aliases": ["Short stature, mesomelic", "Short stature, disproportionate mesomelic", "Dwarfism, short limb mesomelic"], "types": ["T033"], "canonical_name": "Mesomelic short stature", "definition": "A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). [HPO:probinson]"} {"concept_id": "C1855284", "aliases": ["Intrahepatic atresia of biliary duct", "Bile duct paucity"], "types": ["T047"], "definition": "Atresia in the intrahepatic bile duct. [HPO:probinson]", "canonical_name": "Intrahepatic biliary atresia"} {"concept_id": "C1855285", "aliases": ["Protruding ears"], "types": ["T033"], "canonical_name": "Protruding ear", "definition": "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). [PMID:19152421]"} {"concept_id": "C1855289", "aliases": [], "types": ["T033"], "canonical_name": "Cuboid-shaped thoracolumbar vertebral bodies"} {"concept_id": "C1855290", "aliases": ["Tightly curved thumb nail"], "types": ["T033"], "canonical_name": "Hyperconvex thumb nails"} {"concept_id": "C1855299", "aliases": ["Forearm undergrowth", "Hypoplasia involving forearm bones", "Short forearm bones", "Shortened forearm"], "types": ["T190"], "definition": "Forearm shortening because of underdevelopment of one or more bones of the forearm. [HPO:probinson]", "canonical_name": "Short forearms"} {"concept_id": "C1855301", "aliases": [], "types": ["T033"], "canonical_name": "Absent proximal radial epiphyses", "definition": "Absence of the proximal radial epiphysis. [HPO:curators]"} {"concept_id": "C1855311", "aliases": [], "types": ["T033"], "definition": "Dilatation of the bladder postnatally. [HPO:probinson]", "canonical_name": "Megacystis"} {"concept_id": "C1855330", "aliases": ["Small cerebrum", "Underdeveloped cerebrum"], "types": ["T033"], "canonical_name": "Cerebral hypoplasia", "definition": "Underdevelopment of the cerebrum. [HPO:probinson]"} {"concept_id": "C1855331", "aliases": ["Olfactory lobe absence"], "types": ["T033"], "canonical_name": "Olfactory lobe agenesis"} {"concept_id": "C1855333", "aliases": ["Underdevelopment of external reproductive organs", "Hypogenitalism", "Small genitalia"], "types": ["T033"], "canonical_name": "External genital hypoplasia", "definition": "Underdevelopment of part or all of the external reproductive organs. [HPO:probinson]"} {"concept_id": "C1855335", "aliases": ["Hypoplastic bladder", "Underdeveloped bladder"], "types": ["T033"], "canonical_name": "Hypoplasia of the bladder", "definition": "Underdevelopment of the urinary bladder. [HPO:probinson]"} {"concept_id": "C1855340", "aliases": ["Bowing of long bones", "Bowed long bones", "Diaphyseal bowing of long bones", "Camptomelia", "Diaphyseal bowing", "Bowing of the long bones"], "types": ["T019"], "canonical_name": "Bowing of the long bones", "definition": "A bending or abnormal curvature of a long bone. [HPO:probinson]"} {"concept_id": "C1855350", "aliases": ["Hypoplasia of inferior vermis", "Inferior vermis hypoplasia"], "types": ["T019"], "canonical_name": "Inferior cerebellar vermis hypoplasia", "definition": "Underdevelopment of the inferior portion of the vermis of cerebellum. [HPO:probinson, PMID:16580298]"} {"concept_id": "C1855353", "aliases": ["Unchanging facial expression", "Fixed facial expression"], "types": ["T033"], "canonical_name": "Fixed facial expression"} {"concept_id": "C1855391", "aliases": [], "types": ["T033"], "canonical_name": "Tortuosity of conjunctival vessels", "definition": "The presence of an increased number of twists and turns of the conjunctival blood vessels. [HPO:probinson]"} {"concept_id": "C1855418", "aliases": ["Thoracolumbar gibbus", "Thoracolumbar gibbus deformity"], "types": ["T190"], "canonical_name": "Thoracolumbar kyphosis", "definition": "Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. [HPO:probinson]"} {"concept_id": "C1855458", "aliases": [], "types": ["T033"], "canonical_name": "Perioral erythema", "definition": "Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth. []"} {"concept_id": "C1855459", "aliases": [], "types": ["T019"], "canonical_name": "Congenital symmetrical palmoplantar keratosis"} {"concept_id": "C1855478", "aliases": [], "types": ["T033"], "canonical_name": "Increased carrying angle", "definition": "An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. [HPO:probinson, PMID:18506557]"} {"concept_id": "C1855480", "aliases": ["Pulmonary lymphangiectasis"], "types": ["T033"], "canonical_name": "Pulmonary lymphangiectasia", "definition": "Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. [HPO:probinson]"} {"concept_id": "C1855483", "aliases": [], "types": ["T033"], "canonical_name": "Progressive spastic paraplegia"} {"concept_id": "C1855487", "aliases": [], "types": ["T033"], "canonical_name": "Midline brain calcifications"} {"concept_id": "C1855488", "aliases": [], "types": ["T033"], "canonical_name": "Bitemporal hollowing", "definition": "Depression of profile in both temporal regions. []"} {"concept_id": "C1855496", "aliases": [], "types": ["T047"], "canonical_name": "Contiguous gene syndrome"} {"concept_id": "C1855513", "aliases": ["Prominent nipples"], "types": ["T033"], "canonical_name": "Prominent nipples"} {"concept_id": "C1855514", "aliases": ["Severe faltering weight", "Severe postnatal failure to thrive", "Marked failure to thrive", "Severe weight faltering"], "types": ["T033"], "canonical_name": "Severe failure to thrive"} {"concept_id": "C1855515", "aliases": ["Juvenile type ovarian granulosa cell tumour", "Ovarian juvenile granulosa cell tumor", "Ovarian juvenile granulosa cell tumour"], "types": ["T191"], "canonical_name": "Juvenile type ovarian granulosa cell tumor", "definition": "A granulosa cell tumor that affects females in the first three decades of life. In young girls it may present with pseudoprecocity. In women during reproductive years, it may present with menstrual abnormalities."} {"concept_id": "C1855520", "aliases": [], "types": ["T033"], "definition": "Abnormally high BLOOD GLUCOSE level after a meal.", "canonical_name": "Postprandial hyperglycemia"} {"concept_id": "C1855538", "aliases": ["Short and narrow face", "Small face", "Microface", "Small facies", "Microfacies", "Hypoplasia of face", "Facial hypoplasia"], "types": ["T033"], "canonical_name": "Small face", "definition": "A face that is short (HP:0011219) and narrow (HP:0000275). [HP:probinson]"} {"concept_id": "C1855544", "aliases": ["Enlarged wide portion of a long bone"], "types": ["T033"], "canonical_name": "Enlarged metaphyses", "definition": "Abnormal increase in size of one or more metaphyses. [HPO:probinson]"} {"concept_id": "C1855568", "aliases": ["Jerking head movements", "Head jerking"], "types": ["T033"], "canonical_name": "Jerky head movements"} {"concept_id": "C1855575", "aliases": ["Very rare (<4-1%)", "Very rare (<4-1%)"], "types": ["T033"], "canonical_name": "Very rare", "definition": "Present in 1% to 4% of the cases. []"} {"concept_id": "C1855578", "aliases": ["Muscle cramps on exertion", "Muscle cramps with exertion", "Muscle cramps on exercise", "Muscle cramps following exercise", "Exercise-induced muscle cramping", "Exercise-induced muscle cramps"], "types": ["T033"], "canonical_name": "Exercise-induced muscle cramps", "definition": "Sudden and involuntary contractions of one or more muscles brought on by physical exertion. [HPO:probinson]"} {"concept_id": "C1855579", "aliases": ["Muscle stiffness with exercise", "Muscle stiffness, exercise-induced", "Exercise-induced muscle stiffness"], "types": ["T033"], "canonical_name": "Exercise-induced muscle stiffness", "definition": "A type of muscle stiffness that occurs following physical exertion. [HPO:probinson]"} {"concept_id": "C1855580", "aliases": [], "types": ["T033"], "canonical_name": "Exercise-induced muscle fatigue", "definition": "An abnormally increased tendency towards muscle fatigue induced by physical exercise. [HPO:curators]"} {"concept_id": "C1855608", "aliases": ["Cartilaginous ossification of rib"], "types": ["T033"], "canonical_name": "Costal cartilage calcification", "definition": "Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax. [HPO:probinson]"} {"concept_id": "C1855616", "aliases": ["Cartilaginous nasal ossification"], "types": ["T033"], "canonical_name": "Cartilaginous ossification of nose"} {"concept_id": "C1855620", "aliases": ["Premature fusion of end part of digital bone"], "types": ["T033"], "canonical_name": "Premature fusion of phalangeal epiphyses", "definition": "Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth. [HPO:probinson]"} {"concept_id": "C1855622", "aliases": [], "types": ["T033"], "canonical_name": "Cartilaginous ossification of larynx", "definition": "Ossification affecting the set of cartilages of larynx. [HPO:probinson]"} {"concept_id": "C1855633", "aliases": ["Congenital palmoplantar keratosis", "Congenital palmoplantar keratoderma", "Congenital palmoplantar keratodermia"], "types": ["T019"], "canonical_name": "Congenital palmoplantar hyperkeratosis", "definition": "Abnormal thickening of the skin on the palms and soles that is present at birth. []"} {"concept_id": "C1855642", "aliases": ["Resorption of alveolar processes of jaw", "Atrophy of alveolar processes of jaw", "Resorption of alveolar ridges", "Resorption of alveolar margins", "Atrophy of alveolar margins", "Shrinking of gum ridges", "Shrinking of alveolar ridges"], "types": ["T033"], "canonical_name": "Atrophy of alveolar ridges"} {"concept_id": "C1855650", "aliases": ["Birth length < 3rd percentile", "Birth length <3rd percentile"], "types": ["T033"], "canonical_name": "Birth length less than 3rd percentile"} {"concept_id": "C1855657", "aliases": [], "types": ["T033"], "canonical_name": "Calvarial osteosclerosis", "definition": "An increase in bone density affecting the calvaria (roof of the skull). [HPO:curators]"} {"concept_id": "C1855665", "aliases": ["Ovoid vertebrae", "Ovoid-shaped vertebral bodies", "Oval vertebral bodies"], "types": ["T033"], "canonical_name": "Ovoid vertebral bodies", "definition": "When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. [HPO:probinson]"} {"concept_id": "C1855669", "aliases": ["Absent frontal sinus", "Absence of frontal sinuses", "Missing frontal sinus"], "types": ["T033"], "canonical_name": "Absent frontal sinuses", "definition": "Aplasia of frontal sinus. [HPO:probinson]"} {"concept_id": "C1855670", "aliases": ["Corneal abnormalities", "Corneal abnormality", "Abnormality of the cornea"], "types": ["T033"], "canonical_name": "Abnormal cornea morphology", "definition": "Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. [HPO:probinson]"} {"concept_id": "C1855672", "aliases": [], "types": ["T033"], "canonical_name": "Immotile cilia"} {"concept_id": "C1855676", "aliases": ["Cerebellar vermis aplasia/hypoplasia", "Hypo/aplastic vermis"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the cerebellar vermis", "definition": "Absence or underdevelopment of the vermis of cerebellum. [HPO:curators]"} {"concept_id": "C1855677", "aliases": ["Brainstem hypoplasia/dysplasia", "Malformation of brainstem structures"], "types": ["T019"], "canonical_name": "Brainstem dysplasia", "definition": "A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord. [HPO:probinson]"} {"concept_id": "C1855682", "aliases": [], "types": ["T033"], "canonical_name": "Thickening of the tubular basement membrane", "definition": "Increase in thickness of the basement membrane of the tubulus of the kidney. [PMID:20142905]"} {"concept_id": "C1855685", "aliases": ["No light-evoked response on electroretinogram", "Extinction of electroretinogram", "Abolished electroretinogram", "Absent electroretinogram", "Undetectable ERG", "Extinguished electroretinogram"], "types": ["T033"], "canonical_name": "Undetectable electroretinogram", "definition": "Lack of any response to stimulation upon electroretinography. [HPO:probinson]"} {"concept_id": "C1855690", "aliases": [], "types": ["T033"], "canonical_name": "Midline skin dimples over anterior/posterior fontanelles"} {"concept_id": "C1855694", "aliases": ["Small milk teeth", "Underdevelopment of primary teeth", "Underdevelopment of milk teeth", "Decreased size of primary teeth", "Small primary teeth", "Hypoplastic deciduous teeth", "Decreased size of baby teeth", "Underdevelopment of baby teeth", "Decreased size of primary tooth", "Decreased size of milk teeth", "Small baby teeth", "Decreased size of deciduous teeth"], "types": ["T033"], "canonical_name": "Hypoplasia of the primary teeth", "definition": "Developmental hypoplasia of the primary teeth. [HPO:ibailleulforestier]"} {"concept_id": "C1855698", "aliases": ["Scalp aplasia cutis congenita"], "types": ["T019"], "canonical_name": "Aplasia cutis congenita of scalp", "definition": "A developmental defect resulting in the congenital absence of skin on the scalp. [HPO:probinson]"} {"concept_id": "C1855710", "aliases": ["Hypoplastic bone marrow", "Bone marrow hypoplasia", "Bone marrow hypocellularity"], "types": ["T033"], "definition": "A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. [DDD:wouwehand, HPO:probinson]", "canonical_name": "Bone marrow failure"} {"concept_id": "C1855728", "aliases": ["Low posterior hair line", "Low hairline at back of neck"], "types": ["T033"], "canonical_name": "Low posterior hairline", "definition": "Hair on the neck extends more inferiorly than usual. [PMID:19125436]"} {"concept_id": "C1855736", "aliases": [], "types": ["T033"], "canonical_name": "Internal carotid artery hypoplasia"} {"concept_id": "C1855751", "aliases": [], "types": ["T033"], "canonical_name": "Bulbous nasal tip"} {"concept_id": "C1855752", "aliases": ["Abnormal T cell morphology", "Cellular immune defect", "Defective cellular immunity", "Abnormal T cells"], "types": ["T033"], "definition": "An abnormality of T cells. [HPO:curators]", "canonical_name": "Abnormality of T cells"} {"concept_id": "C1855755", "aliases": ["Abnormal serum immunoglobulin concentration", "Abnormal serum level of immunoglobulin", "Immunoglobulin abnormality", "Abnormal immunoglobulin concentration", "Abnormal serum immunoglobulin levels"], "types": ["T033"], "canonical_name": "Abnormal immunoglobulin level", "definition": "An abnormal deviation from normal levels of immunoglobulins in blood. [HPO:probinson]"} {"concept_id": "C1855758", "aliases": ["Laterally displaced femoral heads"], "types": ["T033"], "canonical_name": "Lateral displacement of the femoral head", "definition": "A developmental anomaly with lateral displacement of the femoral head. [HPO:probinson]"} {"concept_id": "C1855767", "aliases": ["Reduced natural killer cell number", "Reduced NK cell number"], "types": ["T033"], "canonical_name": "Reduced natural killer cell count", "definition": "Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor. [HPO:probinson, PMID:23993353]"} {"concept_id": "C1855773", "aliases": [], "types": ["T033"], "canonical_name": "Psychomotor retardation, profound"} {"concept_id": "C1855781", "aliases": ["Lack of delayed skin hypersensitivity reaction", "Absence of delayed hypersensitivity skin test"], "types": ["T033"], "canonical_name": "Cutaneous anergy", "definition": "Inability to react to a delayed hypersensitivity skin test. [HPO:probinson]"} {"concept_id": "C1855801", "aliases": ["Calcium kidney stone", "Ca2+ kidney stone", "Ca kidney stone", "Ca2+ nephrolithiasis", "Ca nephrolithiasis"], "types": ["T033"], "canonical_name": "Calcium nephrolithiasis", "definition": "The presence of calcium-containing calculi (stones) in the kidneys. [HPO:probinson]"} {"concept_id": "C1855815", "aliases": [], "types": ["T033"], "canonical_name": "Skin dimple over apex of long bone angulation"} {"concept_id": "C1855828", "aliases": ["Vertebral clefts"], "types": ["T033"], "canonical_name": "Vertebral clefting", "definition": "Schisis (cleft or cleavage) of vertebral bodies. [HPO:probinson]"} {"concept_id": "C1855841", "aliases": ["Low calcium seizures", "Seizures due to hypocalcemia"], "types": ["T047"], "canonical_name": "Hypocalcemic seizures"} {"concept_id": "C1855843", "aliases": ["Intrauterine growth retardation, severe", "Severe prenatal growth deficiency"], "types": ["T033"], "canonical_name": "Severe intrauterine growth retardation", "definition": "Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. [HPO:probinson]"} {"concept_id": "C1855845", "aliases": ["Uneven increase in bone density", "Patchy increase of bone mineral density"], "types": ["T033"], "canonical_name": "Patchy osteosclerosis", "definition": "Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:curators]"} {"concept_id": "C1855852", "aliases": ["Large eyes", "Increased size of eyes"], "types": ["T033"], "canonical_name": "Abnormally large globe", "definition": "Diffusely large eye (with megalocornea) without glaucoma. [HPO:probinson]"} {"concept_id": "C1855853", "aliases": ["Deficient platelet aggregation", "Platelet aggregation defect", "Impaired platelet aggregation"], "types": ["T033"], "definition": "An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. [DDD:wouwehand]", "canonical_name": "Defective platelet aggregation"} {"concept_id": "C1855889", "aliases": ["Widened posterior fossa"], "types": ["T033"], "canonical_name": "Enlarged posterior fossa", "definition": "Abnormal increased size of the posterior cranial fossa. [PMID:28295149]"} {"concept_id": "C1855895", "aliases": ["Erlenmeyer flask deformity of distal femur", "Erlenmeyer flask femora", "Erlenmeyer flask shaped thighbone"], "types": ["T033"], "canonical_name": "Erlenmeyer flask deformity of the femurs", "definition": "Flaring of distal femur. [HPO:probinson]"} {"concept_id": "C1855899", "aliases": ["Enlarged first metatarsal", "Wide 1st long bone of foot", "Broad 1st metatarsal"], "types": ["T033"], "canonical_name": "Broad first metatarsal", "definition": "Increased side-to-side width of the first metatarsal bone. [HPO:probinson]"} {"concept_id": "C1855901", "aliases": [], "types": ["T019"], "canonical_name": "Congenital hypertrophy of left ventricle"} {"concept_id": "C1855925", "aliases": ["High hyperopia", "Severe long-sightedness", "Severe farsightedness", "High-grade hypermetropia"], "types": ["T033"], "definition": "A severe form of hypermetropia with over +5.00 diopters. [DDD:ncarter, ORCID:0000-0003-0986-4123]", "canonical_name": "High hypermetropia"} {"concept_id": "C1855986", "aliases": [], "types": ["T033"], "definition": "The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens. [UCDenver:tjcallahan]", "canonical_name": "Hydroxylysinuria"} {"concept_id": "C1855995", "aliases": [], "types": ["T047"], "definition": "An increase in the level of L-2-hydroxyglutaric acid in the urine. [ORCID:0000-0001-5208-3432]", "canonical_name": "L-2-hydroxyglutaric aciduria"} {"concept_id": "C1855996", "aliases": [], "types": ["T033"], "canonical_name": "Psychomotor regression beginning in infancy"} {"concept_id": "C1856001", "aliases": [], "types": ["T033"], "canonical_name": "Severe demyelination of the white matter", "definition": "A severe loss of myelin from nerve fibers in the central nervous system. [HPO:probinson]"} {"concept_id": "C1856006", "aliases": ["Transverse vaginal membrane"], "types": ["T033"], "canonical_name": "Transverse vaginal septum", "definition": "A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the M\u00fcllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea."} {"concept_id": "C1856017", "aliases": ["Adrenal gland dysplasia", "Dysplastic adrenal glands"], "types": ["T033"], "canonical_name": "Adrenal gland dysgenesis", "definition": "Abnormal development of the adrenal gland. [DDD:spark]"} {"concept_id": "C1856019", "aliases": ["Cerebral gyral anomalies", "Abnormal gyration", "Gyral disorganization"], "types": ["T190"], "canonical_name": "Abnormal cortical gyration", "definition": "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. [HPO:curators]"} {"concept_id": "C1856023", "aliases": ["Vaginal malformation"], "types": ["T033"], "canonical_name": "Abnormal vagina morphology", "definition": "Any structural abnormality of the vagina. [HPO:probinson]"} {"concept_id": "C1856026", "aliases": ["Cleft lower lip", "Lower labial cleft", "Cleft of the lower lip"], "types": ["T033"], "canonical_name": "Cleft lower lip", "definition": "A gap in the lower lip. [HPO:probinson]"} {"concept_id": "C1856027", "aliases": ["Cleft in cranial base", "Cleft in skull base"], "types": ["T190"], "canonical_name": "Cleft in skull base", "definition": "A bony defect in the skull base. [HPO:curators]"} {"concept_id": "C1856029", "aliases": ["Proximal tibial hypopolasia"], "types": ["T033"], "canonical_name": "Proximal tibial hypoplasia"} {"concept_id": "C1856087", "aliases": ["Scalloping of vertebral bodies", "Biconcave 'codfish' vertebrae", "Fish vertebrae", "Codfish vertebrae", "Biconcave vertebrae"], "types": ["T033"], "canonical_name": "Biconcave vertebral bodies", "definition": "Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. [HPO:probinson]"} {"concept_id": "C1856089", "aliases": [], "types": ["T033"], "canonical_name": "Methioninuria", "definition": "Increased level of methionine in urine. [UCDenver:tjcallahan]"} {"concept_id": "C1856115", "aliases": ["Happy demeanour", "Happy demeanor"], "types": ["T033"], "canonical_name": "Happy demeanor", "definition": "A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context. [PMID:18830393]"} {"concept_id": "C1856117", "aliases": ["Uplifted earlobe", "Uplifted earlobes", "Upturned earlobe", "Lobe, uplifted", "Upturned earlobes", "Fleshy upturned lobules"], "types": ["T190"], "canonical_name": "Uplifted earlobe", "definition": "An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. [HPO:probinson, PMID:19152421]"} {"concept_id": "C1856118", "aliases": ["Prominent tip of nose", "Large nasal tip", "Large tip of nose", "Pronounced tip of nose", "Pronounced nasal tip", "Prominent nasal tip"], "types": ["T033"], "canonical_name": "Prominent nasal tip"} {"concept_id": "C1856119", "aliases": ["Columella, low", "Columella, low hanging", "Extension of the columella below the ala nasi", "Low-hanging columella", "Columella extends below the ala nasi"], "types": ["T033"], "canonical_name": "Low hanging columella", "definition": "Columella extending inferior to the level of the nasal base, when viewed from the side. [PMID:19152422]"} {"concept_id": "C1856121", "aliases": ["Broad eyebrow", "Broad eyebrows", "Increased vertical width of eyebrow", "Flared eyebrow", "Increased vertical height of eyebrow", "Flared eyebrows", "Increased vertical thickness of eyebrow"], "types": ["T033"], "canonical_name": "Broad eyebrow", "definition": "Regional increase in the width (height) of the eyebrow. [PMID:19125427]"} {"concept_id": "C1856123", "aliases": [], "types": ["T033"], "canonical_name": "Pulmonary artery sling", "definition": "An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum. [DDD:dbrown, PMID:16549603, PMID:18458183]"} {"concept_id": "C1856129", "aliases": ["Thyroid lymphangiectasis"], "types": ["T033"], "canonical_name": "Thyroid lymphangiectasia", "definition": "The presence of lymphangiectasis of the thyroid gland. [HPO:probinson]"} {"concept_id": "C1856136", "aliases": ["Peg-shaped incisors", "Peg shaped incisors", "Shark tooth incisor", "Conoid incisor", "Cone shaped front tooth"], "types": ["T033"], "canonical_name": "Conical incisor", "definition": "An abnormal conical morphology of the incisor tooth. [HPO:ibailleulforestier]"} {"concept_id": "C1856139", "aliases": [], "types": ["T033"], "canonical_name": "Pleural lymphangiectasia"} {"concept_id": "C1856140", "aliases": [], "types": ["T033"], "canonical_name": "Pericardial lymphangiectasia", "definition": "An abnormal dilatation of lymph vessels in the pericardium. [PMID:18391124]"} {"concept_id": "C1856162", "aliases": [], "types": ["T033"], "canonical_name": "Pancreatic lymphangiectasis", "definition": "The presence of lymphangiectasis in the pancreas. [HPO:probinson]"} {"concept_id": "C1856164", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophied alveolar ridge"} {"concept_id": "C1856194", "aliases": [], "types": ["T033"], "canonical_name": "Neutral hyperaminoaciduria", "definition": "The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine. [PMID:30177408]"} {"concept_id": "C1856202", "aliases": ["Carp-like mouth", "Wide, carp-shaped mouth", "Large, carp-shaped mouth", "Fish mouth", "U-Shaped upper lip vermilion"], "types": ["T033"], "definition": "Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. [PMID:19125428]", "canonical_name": "Carp-shaped mouth"} {"concept_id": "C1856203", "aliases": ["Decreased width of baby teeth", "Decreased width of milk teeth", "Decreased width of primary tooth", "Small deciduous teeth", "Decreased width of deciduous teeth", "Microdontia of deciduous teeth"], "types": ["T033"], "canonical_name": "Microdontia of primary teeth", "definition": "Decreased size of the primary teeth. [HPO:ibailleulforestier]"} {"concept_id": "C1856223", "aliases": ["Decreased number of sternal ossification centres"], "types": ["T033"], "canonical_name": "Decreased number of sternal ossification centers", "definition": "A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms. [HPO:probinson, PMID:10204210]"} {"concept_id": "C1856231", "aliases": ["Thin cranial bone"], "types": ["T033"], "canonical_name": "Thin calvarium", "definition": "The presence of an abnormally thin calvarium. [HPO:probinson]"} {"concept_id": "C1856266", "aliases": ["Coronal suture synostosis", "Craniosynostosis of coronal suture", "Coronal suture craniosynostosis"], "types": ["T047"], "canonical_name": "Coronal craniosynostosis", "definition": "Premature closure of the coronal suture of skull. [HPO:probinson]"} {"concept_id": "C1856285", "aliases": ["Increased liver glycogen content"], "types": ["T033"], "canonical_name": "Increased hepatic glycogen content", "definition": "An increase in the amount of glycogen stored in hepatocytes compared to normal. [HPO:probinson]"} {"concept_id": "C1856361", "aliases": ["Doll-like facial appearance"], "types": ["T033"], "canonical_name": "Doll-like facies", "definition": "A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. [HPO:probinson]"} {"concept_id": "C1856408", "aliases": [], "types": ["T033"], "canonical_name": "Infantile encephalopathy", "definition": "Encephalopathy with onset in the infantile period. [HPO:probinson]"} {"concept_id": "C1856409", "aliases": ["Enlarged lateral ventricles", "Lateral ventricle dilatation", "Dilatation of lateral cerebral ventricles"], "types": ["T033"], "canonical_name": "Dilation of lateral ventricles"} {"concept_id": "C1856432", "aliases": [], "types": ["T033"], "canonical_name": "Dicarboxylic aciduria", "definition": "An increased concentration of dicarboxylic acid in the urine. [HPO:gcarletti]"} {"concept_id": "C1856438", "aliases": ["Hypoglycemia, hypoketotic"], "types": ["T033"], "canonical_name": "Hypoketotic hypoglycemia", "definition": "A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. [HPO:probinson]"} {"concept_id": "C1856441", "aliases": [], "types": ["T047"], "canonical_name": "Late onset congenital glaucoma"} {"concept_id": "C1856468", "aliases": [], "types": ["T033"], "canonical_name": "Round, full face"} {"concept_id": "C1856471", "aliases": ["Short long bone of hand with rounded innermost ends"], "types": ["T033"], "canonical_name": "Short metacarpals with rounded proximal ends"} {"concept_id": "C1856477", "aliases": [], "types": ["T033"], "canonical_name": "Slowed horizontal saccades", "definition": "An abnormally slow velocity of horizontal saccadic eye movements. [HPO:probinson]"} {"concept_id": "C1856478", "aliases": [], "types": ["T033"], "canonical_name": "Hypometric horizontal saccades", "definition": "Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. [HPO:probinson, PMID:572501]"} {"concept_id": "C1856483", "aliases": ["Calcifications of the cardiac valves"], "types": ["T033"], "canonical_name": "Cardiac valve calcification", "definition": "Abnormal calcification of a cardiac valve. [HPO:probinson]"} {"concept_id": "C1856507", "aliases": [], "types": ["T033"], "canonical_name": "Bulbar signs"} {"concept_id": "C1856542", "aliases": ["Prominent scalp veins"], "types": ["T033"], "canonical_name": "Prominent scalp veins"} {"concept_id": "C1856559", "aliases": ["Decreased beta galactosidase activity"], "types": ["T033"], "canonical_name": "Decreased beta-galactosidase activity", "definition": "Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma. [HPO:gcarletti]"} {"concept_id": "C1856560", "aliases": ["Large vacuolated foam cells ('NP cells') on bone marrow biopsy", "Bone marrow foam cells", "Large vacuolated foam cells on bone marrow biopsy"], "types": ["T033"], "canonical_name": "Bone-marrow foam cells", "definition": "The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance. [HPO:probinson]"} {"concept_id": "C1856565", "aliases": ["Progressive mental and motor deterioration"], "types": ["T033"], "canonical_name": "Progressive psychomotor deterioration"} {"concept_id": "C1856599", "aliases": ["Beaked vertebral bodies", "Anterior beaking of vertebral bodies", "Beaking of vertebral bodies", "anterior beaking", "Anterior beaking of vertebrae"], "types": ["T033"], "definition": "Anterior tongue-like protrusions of the vertebral bodies. [HPO:probinson]", "canonical_name": "Vertebral tongue-like protrusion"} {"concept_id": "C1856604", "aliases": [], "types": ["T033"], "canonical_name": "Late-onset spinocerebellar degeneration"} {"concept_id": "C1856637", "aliases": [], "types": ["T033"], "canonical_name": "Spatulate ribs", "definition": "Ribs that are increased in width and taper to the posterior ends. [HPO:probinson, PMID:20504305]"} {"concept_id": "C1856639", "aliases": [], "types": ["T033"], "canonical_name": "Absent/hypoplastic paranasal sinuses", "definition": "Aplasia or hypoplasia of the paranasal sinuses. [HPO:probinson]"} {"concept_id": "C1856641", "aliases": ["Flattened cervical vertebral bodies"], "types": ["T033"], "canonical_name": "Cervical platyspondyly", "definition": "A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine. [HPO:probinson]"} {"concept_id": "C1856644", "aliases": ["Absent/underdeveloped tailbone", "Absent/small tailbone"], "types": ["T033"], "canonical_name": "Absent/hypoplastic coccyx"} {"concept_id": "C1856646", "aliases": ["Elevated sweat Cl-", "Elevated sweat chloride", "Elevated sweat Cl"], "types": ["T033"], "canonical_name": "Elevated sweat chloride", "definition": "An increased concentration of chloride in the sweat. [HPO:probinson]"} {"concept_id": "C1856654", "aliases": ["Underdeveloped optic tract"], "types": ["T033"], "canonical_name": "Hypoplasia of the optic tract"} {"concept_id": "C1856655", "aliases": ["Underdeveloped olfactory tract"], "types": ["T033"], "canonical_name": "Hypoplasia of olfactory tract"} {"concept_id": "C1856659", "aliases": ["Accessory spleens", "Multiple small spleens", "Multiple accessory spleens"], "types": ["T019"], "definition": "Polysplenia is a congenital disease manifested by multiple small accessory spleens. [HPO:curators]", "canonical_name": "Polysplenia"} {"concept_id": "C1856660", "aliases": ["Abnormal helices", "Helix abnormal", "Abnormality of the helix"], "types": ["T190"], "canonical_name": "Abnormal helix morphology", "definition": "An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. [HPO:probinson]"} {"concept_id": "C1856661", "aliases": ["Cloudy corneas"], "types": ["T033"], "canonical_name": "Cloudy cornea"} {"concept_id": "C1856691", "aliases": ["Abnormality of proprioception"], "types": ["T033"], "canonical_name": "Impaired proprioception", "definition": "A loss or impairment of the sensation of the relative position of parts of the body and joint position. [HPO:probinson]"} {"concept_id": "C1856694", "aliases": ["Areflexia, lower limbs", "Areflexia of the lower limbs", "Absent lower limb tendon reflexes", "Areflexia in lower limbs"], "types": ["T033"], "canonical_name": "Areflexia of lower limbs", "definition": "Inability to elicit tendon reflexes in the lower limbs. [HPO:probinson]"} {"concept_id": "C1856697", "aliases": ["Decreased mitochondrial malic enzyme"], "types": ["T033"], "canonical_name": "Mitochondrial malic enzyme reduced"} {"concept_id": "C1856714", "aliases": ["Furrowed palms and soles", "Wrinkled skin of hands and feet", "Wrinkled palms and soles", "Increased wrinkles of palms and soles", "Excessive wrinkled skin of palms and soles"], "types": ["T033"], "canonical_name": "Palmoplantar cutis laxa", "definition": "Loose, wrinkled skin of hands and feet. [HPO:probinson]"} {"concept_id": "C1856732", "aliases": ["Absent/underdeveloped calf bone", "Fibular aplasia/hypoplasia", "Hypoplastic/aplastic fibulae", "Absent/small calf bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the fibula", "definition": "Absence or underdevelopment of the fibula. [HPO:curators]"} {"concept_id": "C1856742", "aliases": ["Incorrect alignment of wrist bone"], "types": ["T033"], "canonical_name": "Malaligned carpal bone", "definition": "Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna). [HPO:sdoelken]"} {"concept_id": "C1856746", "aliases": ["Deformed ankle bones"], "types": ["T033"], "canonical_name": "Deformed tarsal bones"} {"concept_id": "C1856749", "aliases": ["Absent/small toenails", "Absent/underdeveloped toenails", "Aplastic/hypoplastic toenails", "Hypoplastic-absent toenails"], "types": ["T033"], "canonical_name": "Aplastic/hypoplastic toenail", "definition": "Absence or underdevelopment of the toenail. [HPO:probinson]"} {"concept_id": "C1856765", "aliases": ["Irregular teeth"], "types": ["T033"], "canonical_name": "Irregular dentition"} {"concept_id": "C1856778", "aliases": [], "types": ["T033"], "canonical_name": "Widely patent coronal suture", "definition": "The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed. [HPO:curators]"} {"concept_id": "C1856779", "aliases": [], "types": ["T033"], "canonical_name": "Widely patent sagittal suture", "definition": "The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed. [HPO:curators]"} {"concept_id": "C1856780", "aliases": [], "types": ["T033"], "canonical_name": "Posterior vertebral hypoplasia"} {"concept_id": "C1856786", "aliases": ["Small fingernail", "Underdeveloped fingernail"], "types": ["T033"], "canonical_name": "Hypoplastic fingernail", "definition": "Underdevelopment of a fingernail. [HPO:curators]"} {"concept_id": "C1856872", "aliases": ["Sloping shoulders", "Rounded shoulders", "Down-sloping shoulders", "Rounded, sloping shoulders"], "types": ["T033"], "canonical_name": "Down-sloping shoulders", "definition": "Low set, steeply sloping shoulders. [HPO:probinson]"} {"concept_id": "C1856877", "aliases": [], "types": ["T033"], "canonical_name": "Hyperextensible hand joints", "definition": "The ability of the joints of the hand to move beyond their normal range of motion. [HPO:curators]"} {"concept_id": "C1856886", "aliases": ["Small philtrum"], "types": ["T033"], "canonical_name": "Hypoplastic philtrum", "definition": "Underdevelopment of the philtrum. [HPO:probinson]"} {"concept_id": "C1856888", "aliases": [], "types": ["T033"], "canonical_name": "Clinodactyly of the thumb"} {"concept_id": "C1856889", "aliases": ["Partial or complete syndactyly 3rd-4th fingers", "Webbed 3rd-4th fingers", "Webbed 3rd-4th finger"], "types": ["T033"], "canonical_name": "3-4 finger syndactyly", "definition": "Syndactyly with fusion of fingers three and four. [HPO:sdoelken]"} {"concept_id": "C1856904", "aliases": [], "types": ["T033"], "canonical_name": "Reduced pancreatic beta cells", "definition": "Reduced number of beta cells in the pancreatic islets of Langerhans. [HPO:probinson]"} {"concept_id": "C1856911", "aliases": ["Epiphyseal sclerosis", "Increased bone density in end part of bone"], "types": ["T033"], "canonical_name": "Ivory epiphyses", "definition": "Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:sdoelken]"} {"concept_id": "C1856912", "aliases": [], "types": ["T033"], "definition": "Short, hypoplastic middle phalanx of finger, affecting all fingers. [HPO:probinson]", "canonical_name": "Shortening of all middle phalanges of the fingers"} {"concept_id": "C1856920", "aliases": ["Small femoral heads", "Small head of thigh bone", "Hypoplastic femoral head"], "types": ["T190"], "canonical_name": "Hypoplasia of the femoral head", "definition": "Underdevelopment of the femoral head. [HPO:probinson]"} {"concept_id": "C1856922", "aliases": [], "types": ["T033"], "canonical_name": "Limited elbow flexion"} {"concept_id": "C1856923", "aliases": [], "types": ["T033"], "canonical_name": "Double-layered patella", "definition": "An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood. [PMID:12525546, PMID:12966518]"} {"concept_id": "C1856953", "aliases": ["Excessive sweating of hands"], "types": ["T033"], "canonical_name": "Palmar hyperhidrosis"} {"concept_id": "C1856954", "aliases": ["Plantar hyperkeratoses"], "types": ["T033"], "canonical_name": "Plantar hyperkeratosis", "definition": "Hyperkeratosis affecting the sole of the foot. [HPO:probinson]"} {"concept_id": "C1856956", "aliases": [], "types": ["T033"], "canonical_name": "Subepidermal blistering", "definition": "A type of blistering in which the lesions are located beneath the epidermis. []"} {"concept_id": "C1856963", "aliases": ["Fragile nails"], "types": ["T033"], "definition": "Nails that easily break. [HPO:probinson]", "canonical_name": "Brittle nails"} {"concept_id": "C1856979", "aliases": ["Deep cerebral white matter hypodensities"], "types": ["T033"], "canonical_name": "Deep white matter hypodensities", "definition": "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter. [HPO:probinson, PMID:16239634]"} {"concept_id": "C1856983", "aliases": [], "types": ["T033"], "canonical_name": "Increased CSF interferon alpha", "definition": "Increased concentration of interferon alpha in the cerebrospinal fluid (CSF). [HPO:curators]"} {"concept_id": "C1857002", "aliases": ["Fusion of capitate and hamate", "Fusion of hamate and capitate", "Fused capitate and hamate", "Capitate-hamate fusions"], "types": ["T033"], "canonical_name": "Capitate-hamate fusion"} {"concept_id": "C1857005", "aliases": ["Cone-shaped end part of digital bones 2 to 5"], "types": ["T033"], "canonical_name": "Cone-shaped epiphyses of phalanges 2 to 5"} {"concept_id": "C1857010", "aliases": [], "types": ["T047"], "canonical_name": "Atypical elliptocytosis"} {"concept_id": "C1857011", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent mandibular subluxations", "definition": "Recurrent partial dislocations of the mandible. [HPO:curators]"} {"concept_id": "C1857012", "aliases": [], "types": ["T033"], "canonical_name": "Frontal open bite"} {"concept_id": "C1857013", "aliases": ["Hyperkeratosis, gingival"], "types": ["T047"], "canonical_name": "Gingival hyperkeratosis", "definition": "Hyperkeratosis of the gingiva. [HPO:ibailleulforestier]"} {"concept_id": "C1857021", "aliases": ["Neonatal pneumothorax"], "types": ["T033"], "definition": "Pneumothorax occurring neonatally without traumatic injury to the chest or lung. [HPO:probinson]", "canonical_name": "Spontaneous neonatal pneumothorax"} {"concept_id": "C1857025", "aliases": [], "types": ["T019"], "canonical_name": "Progressive congenital scoliosis", "definition": "A progressive form of scoliosis with congenital onset. [HPO:probinson]"} {"concept_id": "C1857042", "aliases": ["Reduced amount of scalp hair", "Thinning scalp hair", "Hypotrichosis on scalp", "Scalp hypotrichosis", "Reduced/lack of hair on scalp", "Decreased number of scalp follicles", "Reduction in the number of scalp follicles", "Thin scalp hair", "Sparse scalp hair"], "types": ["T033"], "canonical_name": "Sparse scalp hair", "definition": "Decreased number of hairs per unit area of skin of the scalp. [PMID:19125436, PMID:28061825]"} {"concept_id": "C1857045", "aliases": ["Abnormality of the paralabial region", "Abnormality of the infranasal depression", "Abnormal philtrum"], "types": ["T033"], "canonical_name": "Abnormality of the philtrum", "definition": "An abnormality of the philtrum. [HPO:probinson]"} {"concept_id": "C1857048", "aliases": [], "types": ["T033"], "canonical_name": "Progressive hypotrichosis", "definition": "Progressively reduced or lacking hair growth. [HPO:curators]"} {"concept_id": "C1857055", "aliases": [], "types": ["T033"], "canonical_name": "Anteverted ears"} {"concept_id": "C1857074", "aliases": ["Lack of sternal ossification", "Absent sternal mineralization"], "types": ["T033"], "canonical_name": "Absent sternal ossification", "definition": "Lack of formation of mineralized bony tissue of the sternum. [HPO:probinson]"} {"concept_id": "C1857078", "aliases": [], "types": ["T033"], "canonical_name": "Mondini malformation"} {"concept_id": "C1857079", "aliases": ["Atretic auditory canals", "Absent ear canal", "Auditory canal atresia"], "types": ["T047"], "canonical_name": "Atretic auditory canal"} {"concept_id": "C1857101", "aliases": [], "types": ["T033"], "canonical_name": "Anisospondyly", "definition": "Abnormally increased variability of the size of the vertebral bodies. [HPO:probinson]"} {"concept_id": "C1857108", "aliases": ["Decreased joint mobility", "Limited joint motion", "Decreased mobility of joints", "Limited joint mobility", "Limitation of joint mobility"], "types": ["T033"], "canonical_name": "Limitation of joint mobility", "definition": "A reduction in the freedom of movement of one or more joints. [HPO:probinson]"} {"concept_id": "C1857121", "aliases": [], "types": ["T033"], "canonical_name": "Neurodevelopmental regression"} {"concept_id": "C1857126", "aliases": ["Bossing of parietal bone", "Biparietal bossing"], "types": ["T033"], "canonical_name": "Parietal bossing", "definition": "Parietal bossing is a marked prominence in the parietal region. [HPO:probinson]"} {"concept_id": "C1857130", "aliases": [], "types": ["T190"], "canonical_name": "Hypoplastic mandible condyle"} {"concept_id": "C1857131", "aliases": ["Absence of paranasal sinuses", "Missing paranasal sinuses"], "types": ["T033"], "canonical_name": "Absent paranasal sinuses", "definition": "Aplasia of the paranasal sinuses. [HPO:probinson]"} {"concept_id": "C1857137", "aliases": [], "types": ["T033"], "canonical_name": "Progressive bowing of long bones", "definition": "Progressive bending or abnormal curvature of a long bone. [HPO:probinson]"} {"concept_id": "C1857139", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal metaphyseal trabeculation", "definition": "An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. [HPO:probinson]"} {"concept_id": "C1857171", "aliases": ["Hyperhidrosis, episodic", "Sporadic excessive sweating"], "types": ["T033"], "canonical_name": "Episodic hyperhidrosis", "definition": "Intermittent episodes of abnormally increased perspiration. [HPO:probinson]"} {"concept_id": "C1857175", "aliases": ["Episodic hypertension"], "types": ["T033"], "canonical_name": "Intermittent high blood pressure"} {"concept_id": "C1857180", "aliases": ["Wide costochondral junctions", "Prominent costochondral junction", "Enlarged costochondral junctions", "Widened costochondral junction", "Costochondral thickening"], "types": ["T033"], "canonical_name": "Enlargement of the costochondral junction", "definition": "Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. [HPO:probinson]"} {"concept_id": "C1857186", "aliases": ["Irregular lacy iliac crest", "Lacy appearance of iliac crest"], "types": ["T033"], "canonical_name": "Iliac crest serration", "definition": "Irregularities of the iliac crest that produce the appearance of a lace border around it. [HPO:probinson]"} {"concept_id": "C1857190", "aliases": ["Wide symphysis of pubis"], "types": ["T033"], "canonical_name": "Wide pubic symphysis", "definition": "Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. [HPO:probinson]"} {"concept_id": "C1857192", "aliases": [], "types": ["T033"], "canonical_name": "Multicentric ossification of proximal humeral epiphyses"} {"concept_id": "C1857193", "aliases": [], "types": ["T033"], "canonical_name": "Multicentric ossification of proximal femoral epiphyses"} {"concept_id": "C1857202", "aliases": [], "types": ["T033"], "canonical_name": "Frequent vomiting"} {"concept_id": "C1857206", "aliases": ["Lateral thinning of eyebrows", "Limited hair on end of eyebrow", "Laterally sparse eyebrows", "Laterally sparse eyebrow", "Sparse lateral eyebrows", "Lateral hypoplasia of eyebrows"], "types": ["T033"], "canonical_name": "Sparse lateral eyebrow", "definition": "Decreased density/number and/or decreased diameter of lateral eyebrow hairs. [HPO:probinson]"} {"concept_id": "C1857243", "aliases": ["Speckled calcifications in end part of innermost long bone of upper arm"], "types": ["T033"], "canonical_name": "Stippled calcification proximal humeral epiphyses"} {"concept_id": "C1857263", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophic auricular cartilage"} {"concept_id": "C1857278", "aliases": ["Partial to complete agenesis of corpus callosum", "Partial or complete agenesis of the corpus callosum", "Partial or complete agenesis of corpus callosum"], "types": ["T019"], "canonical_name": "Partial-total agenesis of corpus callosum"} {"concept_id": "C1857280", "aliases": ["Infraorbital creases", "Infraorbital crease", "Crease in skin under the eye", "Groove in skin under the eye", "Underorbital skin creases"], "types": ["T033"], "canonical_name": "Infra-orbital crease", "definition": "Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. [PMID:19125427]"} {"concept_id": "C1857287", "aliases": ["Stroke-like episodes", "Strokelike episodes"], "types": ["T033"], "canonical_name": "Stroke-like episode", "definition": "No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. [PMID:22715346, PMID:23907585]"} {"concept_id": "C1857288", "aliases": ["Limited mobility of innermost hinge joint"], "types": ["T033"], "canonical_name": "Limited mobility of proximal interphalangeal joint"} {"concept_id": "C1857304", "aliases": ["Flexion deformity of finger"], "types": ["T033"], "definition": "Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. [HPO:probinson]", "canonical_name": "Flexion contracture of finger"} {"concept_id": "C1857307", "aliases": [], "types": ["T033"], "canonical_name": "Subepithelial corneal opacities"} {"concept_id": "C1857308", "aliases": [], "types": ["T033"], "canonical_name": "Anterior cortical cataract", "definition": "A cataract that affects the anterior part of the cortex of the lens. [HPO:probinson]"} {"concept_id": "C1857353", "aliases": [], "types": ["T033"], "canonical_name": "Posterior fossa cyst", "definition": "A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. [HPO:probinson, PMID:2816648]"} {"concept_id": "C1857434", "aliases": [], "types": ["T047"], "canonical_name": "Pulmonary bleb", "definition": "A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura. [PMID:12934786, PMID:18195376, PMID:20028879]"} {"concept_id": "C1857453", "aliases": ["Absent/small kidney", "Renal agenesis/hypoplasia", "Absent/underdeveloped kidney", "Renal aplasia/hypoplasia"], "types": ["T033"], "canonical_name": "Renal hypoplasia/aplasia", "definition": "Absence or underdevelopment of the kidney. [HPO:probinson]"} {"concept_id": "C1857455", "aliases": ["Unusual hairline with hair growth on temples extending to lateral eyebrow"], "types": ["T033"], "canonical_name": "Extension of hair growth on temples to lateral eyebrow", "definition": "A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows. [HPO:probinson]"} {"concept_id": "C1857456", "aliases": ["Middle ear malformation", "Morphological abnormality of the middle ear"], "types": ["T190"], "canonical_name": "Morphological abnormality of the middle ear", "definition": "An abnormality of the morphology or structure of the middle ear. [DDD:mbitner-glidicz]"} {"concept_id": "C1857476", "aliases": [], "types": ["T033"], "canonical_name": "Multiple small bowel atresias", "definition": "The presence of multiple areas of atresia affecting the small intestine. [HPO:probinson]"} {"concept_id": "C1857479", "aliases": ["Decreased length of columella", "Columella, short"], "types": ["T033"], "canonical_name": "Short columella", "definition": "Reduced distance from the anterior border of the naris to the subnasale. [PMID:19152422]"} {"concept_id": "C1857482", "aliases": ["Slender finger", "thin fingers", "Narrow fingers", "Slender fingers"], "types": ["T033"], "canonical_name": "Slender finger", "definition": "Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. [PMID:19125433]"} {"concept_id": "C1857483", "aliases": ["Poorly formed palmar creases", "Hypoplastic palmar creases", "Shallow palm line", "Shallow palmar creases"], "types": ["T033"], "canonical_name": "Decreased palmar creases", "definition": "Poorly defined or shallow palmar creases. [PMID:19125433]"} {"concept_id": "C1857484", "aliases": ["High, prominent forehead", "Brachy-turricephaly", "Turribrachycephaly"], "types": ["T033"], "canonical_name": "Brachyturricephaly", "definition": "Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. [PMID:8460563]"} {"concept_id": "C1857485", "aliases": ["Flattened forehead", "Frontal flattening", "Flat forehead"], "types": ["T033"], "canonical_name": "Flat forehead", "definition": "A forehead with abnormal flatness. [HPO:probinson]"} {"concept_id": "C1857486", "aliases": ["Low-set posteriorly rotated ears"], "types": ["T033"], "canonical_name": "Low-set, posteriorly rotated ears", "definition": "Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358). [HPO:probinson]"} {"concept_id": "C1857499", "aliases": [], "types": ["T033"], "canonical_name": "Bony paranasal bossing"} {"concept_id": "C1857500", "aliases": ["Broad alveolar margins", "Wide gum ridges", "Widened alveolar ridges", "Wide alveolar margins"], "types": ["T033"], "canonical_name": "Broad alveolar ridges"} {"concept_id": "C1857501", "aliases": ["Hyperostosis of facial bones", "Enlargment of the facial bones", "Excessive growth of facial bones", "Hyperostosis of facial skeleton", "Overgrowth of facial skeleton", "Excessive growth of facial skeleton", "Hypertrophy of the facial bones", "Overgrowth of the facial bones", "Increase in size of the facial bones", "Overgrowth of facial bones"], "types": ["T033"], "canonical_name": "Facial hyperostosis", "definition": "Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. [HPO:probinson]"} {"concept_id": "C1857505", "aliases": ["Club-shaped distal femora", "Club-shaped outermost end of thighbone"], "types": ["T033"], "canonical_name": "Club-shaped distal femur", "definition": "An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. [HPO:probinson]"} {"concept_id": "C1857508", "aliases": ["Uneven increase in bone density in finger bone", "Patchy sclerosis of the phalanges of the hand", "Phalangeal sclerosis"], "types": ["T033"], "canonical_name": "Patchy sclerosis of finger phalanx", "definition": "Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. [HPO:probinson]"} {"concept_id": "C1857519", "aliases": [], "types": ["T033"], "canonical_name": "Malformation of the hepatic ductal plate"} {"concept_id": "C1857527", "aliases": ["Flat epiphyses", "Flat end part of bone"], "types": ["T033"], "canonical_name": "Flattened epiphysis", "definition": "Abnormal flatness (decreased height) of epiphyses. [HPO:probinson]"} {"concept_id": "C1857539", "aliases": ["Deep palmar creases", "Deep palm line"], "types": ["T033"], "canonical_name": "Deep palmar crease", "definition": "Excessively deep creases of the palm. [PMID:19125433]"} {"concept_id": "C1857580", "aliases": [], "types": ["T033"], "canonical_name": "Orbital cleft", "definition": "A facial cleft characterized by involvement of the orbit. [PMID:2503273]"} {"concept_id": "C1857618", "aliases": [], "types": ["T047"], "definition": "An autosomal recessive condition caused by mutation(s) in the CNGA3 gene, encoding cyclic nucleotide-gated cation channel subunit alpha-3. It is characterized by achromatopsia.", "canonical_name": "Total colorblindness"} {"concept_id": "C1857627", "aliases": [], "types": ["T047"], "canonical_name": "Chorioretinal dystrophy"} {"concept_id": "C1857632", "aliases": ["Narrow palm", "Narrow hand", "Narrow hands"], "types": ["T033"], "canonical_name": "Narrow palm", "definition": "For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length. [PMID:19125433]"} {"concept_id": "C1857638", "aliases": [], "types": ["T033"], "canonical_name": "Patchy demyelination of subcortical white matter", "definition": "Patchy loss of myelin from nerve fibers in the central nervous system. [HPO:probinson]"} {"concept_id": "C1857640", "aliases": ["Delayed nerve conduction velocity", "Slow nerve conduction velocity", "Reduced nerve conduction velocities", "Slowed nerve conduction velocities", "Decreased NCV", "Decreased nerve conduction velocities"], "types": ["T033"], "canonical_name": "Decreased nerve conduction velocity", "definition": "A reduction in the speed at which electrical signals propagate along the axon of a neuron. [HPO:probinson]"} {"concept_id": "C1857641", "aliases": ["Severe postnatal growth failure", "Severe growth delay in children", "Marked growth retardation", "Severe postnatal growth deficiency"], "types": ["T033"], "canonical_name": "Severe postnatal growth retardation", "definition": "Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. [DDD:hfirth]"} {"concept_id": "C1857644", "aliases": ["Focal hypopigmentation of the retinal pigment epithelium", "Retinal pigment epithelium irregularity", "Salt and pepper retinopathy", "Salt and pepper retinal pigmentation", "RPE irregularity", "RPE mottling"], "types": ["T033"], "canonical_name": "Retinal pigment epithelial mottling", "definition": "Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium. [HPO:probinson]"} {"concept_id": "C1857645", "aliases": ["Slender nose"], "types": ["T033"], "canonical_name": "Slender nose"} {"concept_id": "C1857651", "aliases": ["Increased bone density of end part of the hand bones", "Ivory epiphyses of the fingers", "Sclerotic ivory phalangeal epiphyses"], "types": ["T033"], "canonical_name": "Ivory epiphyses of the phalanges of the hand", "definition": "Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C1857652", "aliases": ["Decreased thymic hormone"], "types": ["T033"], "canonical_name": "Thymic hormone decreased", "definition": "A reduction in the level of thymic horomone. [PMID:7058086]"} {"concept_id": "C1857656", "aliases": ["Precociously senile appearance", "Prematurely aged appearance"], "types": ["T033"], "canonical_name": "Prematurely aged appearance"} {"concept_id": "C1857657", "aliases": ["Reduced fat tissue below the skin", "Reduced subcutaneous adipose tissue", "Decreased subcutaneous fat", "Decreased subcutaneous adipose tissue", "Scanty adipose tissue"], "types": ["T033"], "definition": "A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. []", "canonical_name": "Reduced subcutaneous fat"} {"concept_id": "C1857665", "aliases": ["Absent clavicles", "Absent collarbone", "Aplastic clavicles"], "types": ["T019"], "canonical_name": "Aplastic clavicle", "definition": "Absence of the clavicles as a developmental defect. [HPO:probinson]"} {"concept_id": "C1857679", "aliases": ["Inclined forehead", "Posteriorly sloping forehead", "Receding forehead", "Sloping forehead"], "types": ["T033"], "canonical_name": "Sloping forehead", "definition": "Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. [PMID:19125436]"} {"concept_id": "C1857690", "aliases": ["Pulmonary arteriovenous malformation"], "types": ["T190"], "definition": "Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins. [PMID:30386957, PMID:788535]", "canonical_name": "Pulmonary AV malformation"} {"concept_id": "C1857692", "aliases": ["Venous varicosities of coeliac and mesenteric vessels"], "types": ["T033"], "canonical_name": "Venous varicosities of celiac and mesenteric vessels", "definition": "Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein. [HPO:probinson]"} {"concept_id": "C1857693", "aliases": ["Arteriovenous fistulas of coeliac and mesenteric vessels"], "types": ["T190"], "canonical_name": "Arteriovenous fistulas of celiac and mesenteric vessels"} {"concept_id": "C1857697", "aliases": ["Lip telangiectases", "Telangiectasia of the lips", "Labial telangiectasia"], "types": ["T033"], "canonical_name": "Lip telangiectasia", "definition": "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. [HPO:probinson]"} {"concept_id": "C1857699", "aliases": ["Palate teleangiectases", "Telangiectasia of the roof of the mouth", "Palate telangiectases", "Palatal angioectasia", "Palatal telangiectasia"], "types": ["T033"], "canonical_name": "Palate telangiectasia", "definition": "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. [HPO:curators]"} {"concept_id": "C1857704", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal myelination", "definition": "Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. [HPO:probinson, MP:0000920]"} {"concept_id": "C1857707", "aliases": [], "types": ["T033"], "canonical_name": "Increased cellular sensitivity to UV light"} {"concept_id": "C1857710", "aliases": ["Prematurely aged facial appearance", "Wizened face", "Aged facial appearance", "Prematurely aged face", "Premature aged appearance"], "types": ["T033"], "canonical_name": "Progeroid facial appearance", "definition": "A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. [HPO:probinson]"} {"concept_id": "C1857787", "aliases": ["Absent inferior half of the cerebellar vermis"], "types": ["T033"], "canonical_name": "Aplasia of the inferior half of the cerebellar vermis"} {"concept_id": "C1857788", "aliases": [], "types": ["T033"], "canonical_name": "Atrophy of the dentate nucleus", "definition": "Partial or complete wasting (loss) of dentate nucleus. [HPO:probinson]"} {"concept_id": "C1857790", "aliases": [], "types": ["T190"], "canonical_name": "Thoracic scoliosis"} {"concept_id": "C1857934", "aliases": [], "types": ["T033"], "canonical_name": "Cerebral cortex with spongiform changes"} {"concept_id": "C1857945", "aliases": [], "types": ["T047"], "canonical_name": "Hyperechogenic pancreas"} {"concept_id": "C1857949", "aliases": ["Ridging of metopic suture", "Prominent frontal suture", "Prominent frontal ridge", "Prominent metopic suture", "Ridging of frontal suture"], "types": ["T033"], "canonical_name": "Prominent metopic ridge", "definition": "Vertical bony ridge positioned in the midline of the forehead. [HPO:probinson, PMID:19125436]"} {"concept_id": "C1857953", "aliases": ["Deep wrinkles in soles of feet"], "types": ["T033"], "canonical_name": "Deep plantar creases", "definition": "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot. [HPO:probinson]"} {"concept_id": "C1858025", "aliases": ["Rigid spine", "Reduced spine movement"], "types": ["T033"], "canonical_name": "Spinal rigidity", "definition": "Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. [HPO:probinson, PMID:11601420, PMID:2246660]"} {"concept_id": "C1858033", "aliases": ["Asymmetric chest"], "types": ["T033"], "canonical_name": "Asymmetry of the thorax", "definition": "Lack of symmetry between the left and right halves of the thorax. [HPO:probinson]"} {"concept_id": "C1858039", "aliases": [], "types": ["T033"], "canonical_name": "Epiphyseal streaking"} {"concept_id": "C1858085", "aliases": ["Flat cheekbone", "Depressed malar region", "Zygomatic flattening", "Malar flattening", "Decreased size of malar bone", "Malar hypoplasia"], "types": ["T033"], "definition": "Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436]", "canonical_name": "Underdevelopment of malar bone"} {"concept_id": "C1858091", "aliases": ["Long fingers"], "types": ["T033"], "canonical_name": "Long fingers", "definition": "The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. [PMID:19125433]"} {"concept_id": "C1858116", "aliases": ["Caudate degeneration"], "types": ["T047"], "canonical_name": "Caudate atrophy"} {"concept_id": "C1858120", "aliases": ["Generalized hypotonia", "Hypotonia, generalized", "Hypotonia, generalised", "Generalized decreased muscle tone", "Generalised decreased muscle tone", "Generalized muscular hypotonia", "Generalised hypotonia"], "types": ["T033"], "definition": "Generalized muscular hypotonia (abnormally low muscle tone). [HPO:curators]", "canonical_name": "Generalised muscular hypotonia"} {"concept_id": "C1858127", "aliases": ["Muscular weakness, limb-girdle", "Limb girdle weakness", "Muscle weakness, limb-girdle"], "types": ["T033"], "canonical_name": "Limb-girdle muscle weakness", "definition": "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. [HPO:curators]"} {"concept_id": "C1858285", "aliases": ["Decreased number of peripheral myelinated nerve fibres", "Loss of myelinated fibers", "Loss of myelinated fibres", "Decreased number of large and small myelinated fibres", "Decreased number of large and small myelinated fibers"], "types": ["T033"], "canonical_name": "Decreased number of peripheral myelinated nerve fibers", "definition": "A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). [HPO:probinson]"} {"concept_id": "C1858312", "aliases": [], "types": ["T033"], "canonical_name": "Megakaryocytopenia", "definition": "A reduced count of megakaryocytes. [HPO:probinson]"} {"concept_id": "C1858395", "aliases": ["Renal tubular cell atrophy", "Renal tubular atrophy"], "types": ["T033"], "definition": "The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. [HPO:probinson, PMID:27211375]", "canonical_name": "Tubular atrophy"} {"concept_id": "C1858427", "aliases": ["Limited extraocular movement"], "types": ["T033"], "canonical_name": "Limited extraocular movements", "definition": "Limited mobility of the eye within its socket. []"} {"concept_id": "C1858430", "aliases": ["Lethal in infancy", "Infantile death", "Death in infancy"], "types": ["T033"], "canonical_name": "Death in infancy", "definition": "Death within the first 24 months of life. [HPO:probinson]"} {"concept_id": "C1858452", "aliases": ["Thickened calvaria", "Increased thickness of skull cap", "Thick calvarium", "Thickened calvarium", "Increased thickness of calvarium", "Increased calvarial thickness", "Increased thickness of cranial vault", "Thickened skull cap", "Thickened cranium", "Calvarial thickening", "Calvarium thickened", "Increased thickness of calvaria", "Thickening of the calvaria", "Thickened cranial vault", "Thick calvaria"], "types": ["T033"], "canonical_name": "Thickened calvaria", "definition": "The presence of an abnormally thick calvaria. [HPO:curators]"} {"concept_id": "C1858529", "aliases": [], "types": ["T033"], "canonical_name": "Denervation of the diaphragm", "definition": "Interruption of the innervation of the diaphragm. [HPO:probinson]"} {"concept_id": "C1858539", "aliases": ["Overriding scrotum", "Scrotum surrounds penis"], "types": ["T019"], "canonical_name": "Shawl scrotum", "definition": "Superior margin of the scrotum superior to the base of the penis. [HPO:probinson, PMID:23650202]"} {"concept_id": "C1858545", "aliases": [], "types": ["T033"], "canonical_name": "Facial capillary hemangioma", "definition": "Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face. []"} {"concept_id": "C1858565", "aliases": ["Duplicated collecting system", "Double collecting system", "Duplex collecting system", "Double urinary collecting systems on intravenous pyelography"], "types": ["T190"], "definition": "A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. [HPO:probinson]", "canonical_name": "Duplicated renal collecting system"} {"concept_id": "C1858567", "aliases": ["Abnormality of the lacrimal duct", "Abnormality of the lacrimal canaliculus"], "types": ["T190"], "canonical_name": "Abnormal lacrimal duct morphology", "definition": "An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. [HPO:probinson]"} {"concept_id": "C1858569", "aliases": ["Failure of development of parotid duct", "Missing parotid duct", "Absent stensen duct", "Absence of parotid duct", "Failure of development of stensen duct", "Missing stensen duct"], "types": ["T033"], "canonical_name": "Absence of Stensen duct"} {"concept_id": "C1858573", "aliases": ["sparse to absent pubic hair", "Decreased sexual hair", "Sparse pubic hair"], "types": ["T033"], "canonical_name": "Sparse pubic hair", "definition": "Reduced number or density of pubic hair. [HPO:probinson]"} {"concept_id": "C1858574", "aliases": ["sparse to absent axillary hair", "Limited armpit hair", "Little underarm hair"], "types": ["T033"], "canonical_name": "Sparse axillary hair", "definition": "Reduced number or density of axillary hair. [HPO:probinson]"} {"concept_id": "C1858626", "aliases": ["Renal bicarbonate wasting", "HCO3-wasting renal tubular acidosis"], "types": ["T047"], "canonical_name": "Bicarbonate-wasting renal tubular acidosis"} {"concept_id": "C1858628", "aliases": [], "types": ["T033"], "canonical_name": "Increased red cell osmotic resistance"} {"concept_id": "C1858719", "aliases": [], "types": ["T033"], "canonical_name": "Facial muscle weakness of muscles innervated by CN VII"} {"concept_id": "C1858729", "aliases": ["Reduced motor nerve conduction velocity", "Decreased motor NCV", "Decreased motor nerve conduction velocities"], "types": ["T033"], "canonical_name": "Decreased motor nerve conduction velocity", "definition": "A type of decreased nerve conduction velocity that affects the motor neuron. [HPO:probinson]"} {"concept_id": "C1858732", "aliases": ["Prominent malar region", "Malar excess", "Malar hyperplasia"], "types": ["T033"], "canonical_name": "Malar prominence", "definition": "Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. [DDD:jclayton-smith]"} {"concept_id": "C1858855", "aliases": [], "types": ["T033"], "canonical_name": "Diffuse swelling of cerebral white matter"} {"concept_id": "C1858857", "aliases": [], "types": ["T033"], "canonical_name": "Diffuse spongiform leukoencephalopathy"} {"concept_id": "C1858969", "aliases": ["Defective lymphocyte apoptosis"], "types": ["T033"], "canonical_name": "Decreased lymphocyte apoptosis", "definition": "A reduction in the rate of apoptosis in lymphocytes. [HPO:probinson]"} {"concept_id": "C1858970", "aliases": [], "types": ["T033"], "canonical_name": "Chronic noninfectious lymphadenopathy", "definition": "A chronic form of lymphadenopathy that is not related to infection. [HPO:probinson]"} {"concept_id": "C1858972", "aliases": ["Increase in B cell count", "Increase in B cell number", "Increased number of B cells"], "types": ["T033"], "canonical_name": "Increased B cell count", "definition": "An abnormal increase from the normal count of B cells. [HPO:probinson]"} {"concept_id": "C1858973", "aliases": ["Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors"], "types": ["T033"], "canonical_name": "Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells", "definition": "An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. []"} {"concept_id": "C1858977", "aliases": ["Increased total IgG in blood", "Increased IgG level", "Increased levels of IgG"], "types": ["T033"], "canonical_name": "Increased circulating IgG level", "definition": "An abnormally increased level of immunoglobulin G in blood. [HPO:probinson]"} {"concept_id": "C1858980", "aliases": ["Platelet antibody"], "types": ["T034"], "definition": "The presence in the serum of autoantibodies directed against thrombocytes. [HPO:probinson]", "canonical_name": "Platelet antibody positive"} {"concept_id": "C1858981", "aliases": ["Antineutrophil antibodies", "Neutrophil antibody positive"], "types": ["T034"], "canonical_name": "Antineutrophil antibody positivity", "definition": "The presence of autoantibodies in the serum that react against neutrophils. [HPO:probinson]"} {"concept_id": "C1858995", "aliases": ["Decreased serum progesterone"], "types": ["T033"], "canonical_name": "Decreased circulating progesterone", "definition": "An reduced concentration of progesterone in the blood. []"} {"concept_id": "C1859014", "aliases": [], "types": ["T033"], "canonical_name": "Primary gonadal insufficiency"} {"concept_id": "C1859077", "aliases": ["Nail aplasia/hypoplasia", "Absent/hypoplastic nails", "Absent/underdeveloped nails", "Absent/small nails"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the nails", "definition": "Aplasia or developmental hypoplasia of the nail. [HPO:probinson]"} {"concept_id": "C1859111", "aliases": ["Enlarged joints"], "types": ["T033"], "canonical_name": "Enlarged joints", "definition": "Increase in size of one or more joints. [HPO:probinson]"} {"concept_id": "C1859115", "aliases": ["Prominent hinge joints"], "types": ["T033"], "canonical_name": "Prominent interphalangeal joints"} {"concept_id": "C1859116", "aliases": ["Large ankle bones"], "types": ["T033"], "canonical_name": "Large tarsal bones"} {"concept_id": "C1859117", "aliases": ["pulmonary infections, recurrent"], "types": ["T033"], "canonical_name": "Recurrent pulmonary infections"} {"concept_id": "C1859120", "aliases": [], "types": ["T033"], "canonical_name": "Anterior rib punctate calcifications", "definition": "Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. [HPO:probinson]"} {"concept_id": "C1859121", "aliases": [], "types": ["T033"], "canonical_name": "Sternal punctate calcifications"} {"concept_id": "C1859126", "aliases": ["Epiphyseal punctate calcifications", "Epiphyseal stippling", "Stippled epiphyses", "Speckled calcifications in end part of bone"], "types": ["T033"], "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. [HPO:probinson]", "canonical_name": "Stippling of the epiphyses"} {"concept_id": "C1859135", "aliases": [], "types": ["T033"], "canonical_name": "Calcific stippling of infantile cartilaginous skeleton"} {"concept_id": "C1859158", "aliases": ["Laryngeal calcifications"], "types": ["T047"], "canonical_name": "Laryngeal calcification", "definition": "Calcification (abnormal deposits of calcium) in the laryngeal tissues. [HPO:probinson]"} {"concept_id": "C1859162", "aliases": [], "types": ["T033"], "canonical_name": "Neonatal cholestatic liver disease"} {"concept_id": "C1859178", "aliases": ["Progressive polyneuropathy"], "types": ["T033"], "canonical_name": "Progressive peripheral neuropathy"} {"concept_id": "C1859200", "aliases": ["Inability to walk by childhood/adolescence"], "types": ["T033"], "canonical_name": "Inability to walk by childhood/adolescence"} {"concept_id": "C1859212", "aliases": ["Limited cervical range of motion", "Limited neck range of motion"], "types": ["T033"], "canonical_name": "Limited neck range of motion"} {"concept_id": "C1859223", "aliases": ["Longitudinal groove on soles"], "types": ["T033"], "canonical_name": "Deep longitudinal plantar crease", "definition": "Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot. [PMID:19125433]"} {"concept_id": "C1859224", "aliases": [], "types": ["T033"], "canonical_name": "Second metatarsal posteriorly placed"} {"concept_id": "C1859231", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic olfactory lobes"} {"concept_id": "C1859235", "aliases": [], "types": ["T033"], "canonical_name": "Intrahepatic biliary dysgenesis"} {"concept_id": "C1859236", "aliases": ["Neonatal jaundice", "Prolonged neonatal jaundice"], "types": ["T033"], "definition": "Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. [HPO:probinson]", "canonical_name": "Prolonged yellowing of skin in newborn"} {"concept_id": "C1859241", "aliases": ["Elevated long chain fatty acids", "Increased serum long-chain fatty acids", "Elevated serum long-chain fatty acids"], "types": ["T033"], "canonical_name": "Elevated circulating long chain fatty acid concentration", "definition": "Increased concentration of long-chain fatty acids in the blood circulation. [HPO:probinson]"} {"concept_id": "C1859273", "aliases": [], "types": ["T033"], "canonical_name": "Dense calcifications in the cerebellar dentate nucleus"} {"concept_id": "C1859292", "aliases": ["Triangular-shaped open mouth"], "types": ["T033"], "canonical_name": "Triangular-shaped open mouth", "definition": "A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle. [HPO:probinson]"} {"concept_id": "C1859335", "aliases": ["Dorsolumbar kyphosis"], "types": ["T033"], "canonical_name": "Thoracolumbar kyphoscoliosis"} {"concept_id": "C1859339", "aliases": [], "types": ["T033"], "canonical_name": "Midfrontal capillary hemangioma"} {"concept_id": "C1859341", "aliases": [], "types": ["T033"], "definition": "Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. [HPO:probinson]", "canonical_name": "Olivopontocerebellar hypoplasia"} {"concept_id": "C1859347", "aliases": ["Abnormal fat tissue distribution below the skin"], "types": ["T033"], "canonical_name": "Abnormal subcutaneous fat tissue distribution"} {"concept_id": "C1859361", "aliases": ["Small twelfth rib", "Underdeveloped twelfth rib"], "types": ["T033"], "canonical_name": "Twelfth rib hypoplasia"} {"concept_id": "C1859363", "aliases": ["Abnormality of tooth eruption", "Abnormal dental eruption", "Anomaly of dental eruption"], "types": ["T033"], "canonical_name": "Abnormality of dental eruption", "definition": "An abnormality of tooth eruption. [HPO:ibailleulforestier]"} {"concept_id": "C1859366", "aliases": ["Underdeveloped 5th lumbar vertebrae"], "types": ["T033"], "canonical_name": "Hypoplastic 5th lumbar vertebrae"} {"concept_id": "C1859368", "aliases": [], "types": ["T033"], "canonical_name": "Camptodactyly of 2nd-5th fingers", "definition": "The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension. [HPO:probinson]"} {"concept_id": "C1859369", "aliases": ["Cylindrical shaped long bones of hand"], "types": ["T033"], "canonical_name": "Tubular metacarpal bones"} {"concept_id": "C1859376", "aliases": ["Fused sternal ossification centres"], "types": ["T033"], "canonical_name": "Fused sternal ossification centers"} {"concept_id": "C1859377", "aliases": ["Thick anterior alveolar process of jaw"], "types": ["T033"], "canonical_name": "Thick anterior alveolar ridges"} {"concept_id": "C1859391", "aliases": ["Absent pubic hair"], "types": ["T033"], "canonical_name": "Absent pubic hair", "definition": "Absence of pubic hair. [HPO:probinson]"} {"concept_id": "C1859392", "aliases": [], "types": ["T033"], "canonical_name": "Absent axillary hair", "definition": "Absence of axillary hair. [HPO:probinson]"} {"concept_id": "C1859399", "aliases": ["Bowing of outer large bone of the forearm", "Bowed radius", "Bowed radii", "Bowing of radius bone of the forearm"], "types": ["T190"], "canonical_name": "Radial bowing", "definition": "A bending or abnormal curvature of the radius. [HPO:probinson]"} {"concept_id": "C1859436", "aliases": [], "types": ["T033"], "canonical_name": "Weak extraocular muscles"} {"concept_id": "C1859438", "aliases": ["Weak frontalis muscle", "Weakness of forehead muscle"], "types": ["T033"], "canonical_name": "Frontalis muscle weakness", "definition": "Reduced strength of the frontalis muscle (which is located on the forehead). [HPO:curators]"} {"concept_id": "C1859442", "aliases": ["Minimal fat below the skin"], "types": ["T033"], "canonical_name": "Minimal subcutaneous fat"} {"concept_id": "C1859443", "aliases": ["Severe, generalised osteoporosis", "Severe, generalized osteoporosis", "Severe generalised osteoporosis"], "types": ["T047"], "canonical_name": "Severe generalized osteoporosis", "definition": "Severe degree of osteoporosis. [HPO:curators]"} {"concept_id": "C1859444", "aliases": [], "types": ["T033"], "canonical_name": "Dysharmonic delayed bone age", "definition": "A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. [HPO:probinson]"} {"concept_id": "C1859446", "aliases": ["Dislocated femoral heads", "Dislocated head of thigh bone"], "types": ["T033"], "canonical_name": "Dislocation of the femoral head", "definition": "Joint dislocation of the femoral head. [HPO:probinson]"} {"concept_id": "C1859447", "aliases": ["Hypoplastic ischium", "Hypoplastic ischii", "Hypoplastic ischial bones"], "types": ["T033"], "canonical_name": "Hypoplastic ischia", "definition": "Underdevelopment of the ischium, which forms the lower and back part of the hip bone. [HPO:probinson]"} {"concept_id": "C1859449", "aliases": ["Thin shaft of long bone", "Thin diaphyses of long bones"], "types": ["T033"], "canonical_name": "Thin long bone diaphyses", "definition": "Decreased width of the diaphysis of long bones. [HPO:probinson]"} {"concept_id": "C1859455", "aliases": ["Small forehead fontanel", "Small anterior fontanel"], "types": ["T033"], "canonical_name": "Small anterior fontanelle", "definition": "Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. [HPO:probinson]"} {"concept_id": "C1859458", "aliases": ["Cleft vertebral arches"], "types": ["T019"], "canonical_name": "Cleft vertebral arch", "definition": "A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra. [HPO:probinson]"} {"concept_id": "C1859460", "aliases": ["Bowing of the humerus", "Humeral bowing", "Bowed long bone in upper arm"], "types": ["T033"], "canonical_name": "Bowed humerus", "definition": "A bending or abnormal curvature of the humerus. [HPO:probinson]"} {"concept_id": "C1859461", "aliases": ["Bowed femurs", "Bowed femura", "Bowed femur", "Bowed thighbone"], "types": ["T033"], "canonical_name": "Femoral bowing", "definition": "Bowing (abnormal curvature) of the femur. [HPO:probinson]"} {"concept_id": "C1859462", "aliases": ["Absent knee end part"], "types": ["T033"], "canonical_name": "Absent knee epiphyses"} {"concept_id": "C1859470", "aliases": [], "types": ["T033"], "canonical_name": "Large basal ganglia", "definition": "Increased size of the basal ganglia. [HPO:probinson]"} {"concept_id": "C1859477", "aliases": ["Proximal radial shortening"], "types": ["T190"], "canonical_name": "Hypoplasia of proximal radius", "definition": "Proximal radial shortening owing to a congenital defect of development. [HPO:probinson]"} {"concept_id": "C1859478", "aliases": ["Small innermost upper end of calf bone", "Underdeveloped innermost upper end of calf bone"], "types": ["T033"], "canonical_name": "Hypoplasia of proximal fibula", "definition": "Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee. [PMID:880750]"} {"concept_id": "C1859480", "aliases": ["Conical phalangeal epiphyses", "Cone-shaped epiphyses of the fingers", "Cone-shaped epiphyses of hand", "Coned epiphyses of hands", "Cone-shaped end part of finger bones"], "types": ["T033"], "definition": "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. [HPO:curators]", "canonical_name": "Cone-shaped epiphyses of the phalanges of the hand"} {"concept_id": "C1859481", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal finger flexion creases"} {"concept_id": "C1859495", "aliases": ["Episodic hemolysis", "Episodic hemolytic anaemia"], "types": ["T047"], "canonical_name": "Episodic hemolytic anemia", "definition": "A form of hemolytic anemia that occurs in repeated episodes. [HPO:probinson]"} {"concept_id": "C1859506", "aliases": ["Hyperammonemia, acute"], "types": ["T033"], "canonical_name": "Acute hyperammonemia", "definition": "An increased concentration of ammonia in the blood with sudden onset. [HPO:probinson]"} {"concept_id": "C1859516", "aliases": ["Recurrent episodes of acidosis"], "types": ["T033"], "canonical_name": "Episodic metabolic acidosis", "definition": "Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. [HPO:probinson]"} {"concept_id": "C1859518", "aliases": [], "types": ["T047"], "definition": "An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine. [PMID:30823446]", "canonical_name": "Beta-aminoisobutyric aciduria"} {"concept_id": "C1859520", "aliases": ["Spasticity, progressive"], "types": ["T033"], "canonical_name": "Progressive spasticity", "definition": "Spasticity that increases in degree with time. [HPO:probinson]"} {"concept_id": "C1859523", "aliases": ["Contractures of the joints of the lower limbs"], "types": ["T190"], "canonical_name": "Contractures, lower limbs"} {"concept_id": "C1859524", "aliases": [], "types": ["T190"], "canonical_name": "Adductor longus contractures"} {"concept_id": "C1859541", "aliases": [], "types": ["T033"], "canonical_name": "Variable degree of villous atrophy"} {"concept_id": "C1859606", "aliases": ["Loss of large myelinated fibers", "Decreased number of large peripheral myelinated nerve fibres", "Depletion of large myelinated fibres", "Loss of larger myelinated nerve fibres", "Loss of larger myelinated nerve fibers", "Depletion of large myelinated fibers", "Loss of large myelinated fibres"], "types": ["T033"], "canonical_name": "Decreased number of large peripheral myelinated nerve fibers", "definition": "A reduced number of large myelinated nerve fibers. [HPO:probinson]"} {"concept_id": "C1859624", "aliases": [], "types": ["T033"], "canonical_name": "Defective B cell differentiation", "definition": "Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. [GO:0030183]"} {"concept_id": "C1859678", "aliases": [], "types": ["T033"], "canonical_name": "Mental deterioration in childhood"} {"concept_id": "C1859680", "aliases": ["Increased breadth of face", "Transverse excess of face", "Broad face", "Increased horizontal dimension of face", "Horizontal excess of face", "Wide facies", "Transverse hyperplasia of face", "Broad facies", "Increased transverse dimension of face", "Increased width of face", "Horizontal hyperplasia of face", "Wide face"], "types": ["T033"], "canonical_name": "Broad face", "definition": "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). [PMID:19125436]"} {"concept_id": "C1859682", "aliases": ["Small frontal sinuses", "Underdeveloped frontal sinuses", "Decreased volume of frontal sinuses"], "types": ["T033"], "canonical_name": "Hypoplastic frontal sinuses", "definition": "Underdevelopment of frontal sinus. [HPO:probinson]"} {"concept_id": "C1859692", "aliases": ["Limited neck movement"], "types": ["T033"], "canonical_name": "Decreased cervical spine mobility"} {"concept_id": "C1859697", "aliases": ["Enlarged capital femoral epiphyses", "Enlarged end part of innermost thighbone"], "types": ["T033"], "canonical_name": "Enlargement of the proximal femoral epiphysis", "definition": "An abnormal enlargement of the proximal epiphysis of the femur. [HPO:probinson]"} {"concept_id": "C1859698", "aliases": [], "types": ["T033"], "canonical_name": "Contractures of the large joints"} {"concept_id": "C1859700", "aliases": [], "types": ["T033"], "canonical_name": "Enlarged metacarpophalangeal joints"} {"concept_id": "C1859701", "aliases": ["Enlarged hinge joints"], "types": ["T033"], "canonical_name": "Enlarged interphalangeal joints"} {"concept_id": "C1859717", "aliases": ["Flat tip of nose", "Nasal tip, recessed", "Flat nasal tip", "Retruded tip of nose", "Flattened nasal tip", "Depressed nasal tip", "Caved in nasal tip", "Nasal tip, depressed", "Nasal tip, retruded", "Depressed tip of nose"], "types": ["T033"], "canonical_name": "Depressed nasal tip", "definition": "Decreased distance from the nasal tip to the nasal base. [PMID:19152422]"} {"concept_id": "C1859735", "aliases": [], "types": ["T033"], "canonical_name": "Arginine deficiency"} {"concept_id": "C1859736", "aliases": ["Progressive spastic quadriparesis"], "types": ["T033"], "canonical_name": "Progressive spastic quadriplegia"} {"concept_id": "C1859747", "aliases": ["Decreased plasma apolipoprotein C-II"], "types": ["T033"], "canonical_name": "Decreased circulating apolipoprotein C-II concentration", "definition": "Reduced concentration of apolipoprotein C-II in the blood circulation. []"} {"concept_id": "C1859768", "aliases": ["Fused 4th-5th metacarpals", "Fused 4th-5th long bones of hand", "Fused fourth and fifth metacarpals", "Ring finger and little finger metacarpal synostosis", "Synostosis of the fourth and fifth metacarpal bones"], "types": ["T190"], "canonical_name": "4-5 metacarpal synostosis"} {"concept_id": "C1859775", "aliases": ["Underdeveloped pituitary gland"], "types": ["T033"], "canonical_name": "Anterior pituitary hypoplasia", "definition": "Underdevelopment of the anterior pituitary gland. [DDD:spark, HPO:probinson]"} {"concept_id": "C1859778", "aliases": ["Postnatal growth failure", "Growth delay as children", "Postnatal growth deficiency", "Growth retardation as children", "Postnatal growth deceleration"], "types": ["T033"], "canonical_name": "Postnatal growth retardation", "definition": "Slow or limited growth after birth. [DDD:hfirth]"} {"concept_id": "C1859819", "aliases": ["Urine concentrating defect", "Urine concentration defect"], "types": ["T033"], "canonical_name": "Impaired renal concentrating ability", "definition": "A defect in the ability to concentrate the urine. [HPO:probinson]"} {"concept_id": "C1859828", "aliases": ["Lipopigment in extraneuronal cells"], "types": ["T033"], "canonical_name": "Increased extraneuronal autofluorescent lipopigment", "definition": "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. [HPO:probinson, PMID:11406682]"} {"concept_id": "C1859833", "aliases": [], "types": ["T033"], "canonical_name": "Granular osmiophilic deposits (GROD) in cells"} {"concept_id": "C1859846", "aliases": ["Truncal obesity apparent in childhood"], "types": ["T033"], "canonical_name": "Childhood-onset truncal obesity", "definition": "Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. [HPO:probinson]"} {"concept_id": "C1859860", "aliases": ["Ketoacidosis, episodic"], "types": ["T033"], "canonical_name": "Episodic ketoacidosis", "definition": "Intermittent episodes of ketoacidosis. [HPO:probinson]"} {"concept_id": "C1859863", "aliases": [], "types": ["T033"], "canonical_name": "Cerebral cortical neurodegeneration"} {"concept_id": "C1859882", "aliases": ["Pigmentation of the outer white part of the eyeball"], "types": ["T033"], "canonical_name": "Pigmentation of the sclera"} {"concept_id": "C1859896", "aliases": ["Macrocephaly, progressive", "Progressively abnormally enlarging cranium", "Progressively abnormally enlarging skull"], "types": ["T033"], "canonical_name": "Progressive macrocephaly", "definition": "The progressive development of an abnormally large skull. [HPO:probinson]"} {"concept_id": "C1859918", "aliases": ["Absent platelet dense bodies"], "types": ["T033"], "canonical_name": "Absent platelet dense granules", "definition": "Lack of platelet dense granules, a type of platelet organelles. [PMID:11809908]"} {"concept_id": "C1859923", "aliases": ["Freckles in sun-exposed areas"], "types": ["T033"], "canonical_name": "Freckles in sun-exposed areas"} {"concept_id": "C1859969", "aliases": ["Agenesis of the cerebral white matter", "White matter agenesis"], "types": ["T046"], "canonical_name": "Cerebral white matter agenesis", "definition": "Congenital defect with failure of the development of the cerebral white matter. [HPO:probinson]"} {"concept_id": "C1859979", "aliases": ["Male precocious puberty", "Early onset of puberty in males"], "types": ["T033"], "canonical_name": "Precocious puberty in males", "definition": "The onset of puberty before the age of 9 years in boys. [HPO:curators]"} {"concept_id": "C1859980", "aliases": [], "types": ["T033"], "canonical_name": "Ambiguous genitalia due to virilization"} {"concept_id": "C1860048", "aliases": [], "types": ["T190"], "canonical_name": "Temporal bossing"} {"concept_id": "C1860050", "aliases": ["Kleeblattschaedel", "Cloverleaf skull", "Cloverleaf skull shape"], "types": ["T033"], "definition": "Trilobar skull configuration when viewed from the front or behind. [PMID:19125436]", "canonical_name": "Trilobar skull shape"} {"concept_id": "C1860069", "aliases": [], "types": ["T033"], "canonical_name": "Exercise-induced myoglobinuria in adults"} {"concept_id": "C1860081", "aliases": [], "types": ["T033"], "canonical_name": "Medium chain dicarboxylic aciduria", "definition": "An increase in the level of medium chain dicarboxylic acid in the urine. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C1860105", "aliases": [], "types": ["T047"], "canonical_name": "Severe short-limb dwarfism"} {"concept_id": "C1860107", "aliases": [], "types": ["T033"], "canonical_name": "Distal femoral bowing", "definition": "A bending or abnormal curvature of the distal portion of the femur. [HPO:probinson]"} {"concept_id": "C1860111", "aliases": ["Abnormally shaped wrist bones"], "types": ["T033"], "canonical_name": "Abnormally shaped carpal bones"} {"concept_id": "C1860127", "aliases": ["Impaired T cell function", "T-cell dysfunction"], "types": ["T049"], "canonical_name": "Impaired T cell function", "definition": "Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity. [ORCID:0000-0001-7941-2961]"} {"concept_id": "C1860128", "aliases": ["Frequent candida infections"], "types": ["T033"], "canonical_name": "Recurrent candida infections", "definition": "An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections. [HPO:probinson]"} {"concept_id": "C1860130", "aliases": ["Decreased serum alkaline phosphatase", "Low ALP"], "types": ["T033"], "canonical_name": "Low alkaline phosphatase", "definition": "Abnormally reduced serum levels of alkaline phosphatase. [HPO:probinson]"} {"concept_id": "C1860156", "aliases": [], "types": ["T033"], "canonical_name": "Lateral displacement of patellae"} {"concept_id": "C1860162", "aliases": ["Bifid distal phalanx of thumb", "Bifid terminal phalanges of thumbs", "Bifid thumb distal phalanx", "Notched outermost bone of thumb", "Notched outermost bone of the thumb", "Incipient distal thumb phalanx duplication", "Notched terminal thumb phalanx"], "types": ["T019"], "canonical_name": "Bifid distal phalanx of the thumb", "definition": "Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. [HPO:sdoelken]"} {"concept_id": "C1860164", "aliases": ["Duplication of phalanx of big toe", "Duplication of big toe bone", "Hallucal duplication", "Duplicated hallux", "Duplication of great toes"], "types": ["T019"], "canonical_name": "Duplication of phalanx of hallux", "definition": "Partial or complete duplication of one or more phalanx of big toe. [HPO:probinson]"} {"concept_id": "C1860165", "aliases": [], "types": ["T033"], "canonical_name": "Pulmonary valve defects", "definition": "Any defect in the valve connecting the heart and the pulmonary artery. []"} {"concept_id": "C1860176", "aliases": [], "types": ["T033"], "canonical_name": "Very short digits"} {"concept_id": "C1860179", "aliases": [], "types": ["T033"], "canonical_name": "Valgus hand deformity"} {"concept_id": "C1860182", "aliases": ["Absent/underdeveloped long bone of foot", "Aplastic/hypoplastic metatarsals", "Absent/small long bone of foot", "Absent or hypoplastic metatarsal", "Absent/hypoplastic metatarsals", "Absent/hypoplastic metacarpals"], "types": ["T033"], "definition": "Absence or underdevelopment of the metatarsal bones. [HPO:curators]", "canonical_name": "Aplasia/Hypoplasia of metatarsal bones"} {"concept_id": "C1860191", "aliases": [], "types": ["T033"], "canonical_name": "Absent vertebral body mineralization", "definition": "A lack of bone mineralization of the vertebral bodies. [HPO:probinson]"} {"concept_id": "C1860202", "aliases": [], "types": ["T033"], "canonical_name": "Unossified vertebral bodies", "definition": "A lack of ossification of the vertebral bodies. [HPO:probinson]"} {"concept_id": "C1860216", "aliases": [], "types": ["T033"], "canonical_name": "Progressive choreoathetosis"} {"concept_id": "C1860219", "aliases": ["Self-mutilation of tongue and lips due to involuntary movements"], "types": ["T033"], "canonical_name": "Self-mutilation of tongue and lips due to involuntary movements"} {"concept_id": "C1860236", "aliases": [], "types": ["T033"], "canonical_name": "Irregular hyperpigmentation"} {"concept_id": "C1860243", "aliases": ["Sternal ossification centre abnormalities", "Sternal ossification center abnormalities", "Abnormal maturation of breastbone"], "types": ["T033"], "canonical_name": "Abnormal sternal ossification", "definition": "Any anomaly in the formation of the bony substance of the sternum. [HPO:probinson]"} {"concept_id": "C1860244", "aliases": ["Malrotation of the small intestine"], "types": ["T019"], "definition": "A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel. [HPO:probinson]", "canonical_name": "Malrotation of small bowel"} {"concept_id": "C1860245", "aliases": ["Asymmetry of cranium", "Cranial vault asymmetry"], "types": ["T033"], "canonical_name": "Cranial asymmetry", "definition": "Asymmetry of the bones of the skull. [HPO:curators]"} {"concept_id": "C1860247", "aliases": ["Protruding area between the eyebrows", "Hyperplasia of glabella", "Prominent area between the eyebrows", "Convex glabella"], "types": ["T033"], "canonical_name": "Prominent glabella", "definition": "Forward protrusion of the glabella. [HPO:probinson, PMID:19125436]"} {"concept_id": "C1860253", "aliases": ["Accessory proximal metacarpal ossification centres", "Metacarpal pseudoepiphyses", "Accessory proximal metacarpal ossification centers"], "types": ["T033"], "canonical_name": "Pseudoepiphyses of the metacarpals", "definition": "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone. [HPO:doelkens]"} {"concept_id": "C1860256", "aliases": ["Medial thinning of eyebrow"], "types": ["T033"], "canonical_name": "Sparse medial eyebrow", "definition": "Decreased density/number and/or decreased diameter of medial eyebrow hairs. []"} {"concept_id": "C1860268", "aliases": [], "types": ["T033"], "canonical_name": "Gonadal tissue inappropriate for external genitalia or chromosomal sex"} {"concept_id": "C1860309", "aliases": ["H-shaped dimple of the chin", "Chin with H-shaped crease", "Chin, H-Shaped Crease", "Chin, H-shaped groove"], "types": ["T190"], "canonical_name": "Chin with H-shaped crease", "definition": "H-shaped crease in the fat pad of the chin. [PMID:19125436]"} {"concept_id": "C1860320", "aliases": [], "types": ["T033"], "canonical_name": "Bone marrow hypercellularity", "definition": "A larger than normal amount or percentage of hematopoietic cells relative to marrow fat. []"} {"concept_id": "C1860334", "aliases": ["Iris hamartomas"], "types": ["T033"], "canonical_name": "Lisch nodules", "definition": "A clear, yellow, or brown, well-defined, dome-shaped elevation projecting from the surface of the iris. It is composed of hamartomatous melanocytic aggregates and is the most common ocular manifestation of neurofibromatosis type 1."} {"concept_id": "C1860335", "aliases": [], "types": ["T033"], "canonical_name": "Axillary freckling", "definition": "The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. [PMID:12186179]"} {"concept_id": "C1860344", "aliases": ["Hypoplastic iris stoma", "Iris stromal hypoplasia", "Underdeveloped iris stroma"], "types": ["T033"], "canonical_name": "Hypoplastic iris stroma", "definition": "Underdevelopment of the stroma of iris. [HPO:probinson]"} {"concept_id": "C1860394", "aliases": [], "types": ["T033"], "canonical_name": "Multiple pancreatic cysts"} {"concept_id": "C1860405", "aliases": ["Snowflake vitreoretinal degeneration"], "types": ["T047"], "definition": "The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous. [DDD:ncarter, PMID:18179896]", "canonical_name": "Snowflake retinal degeneration"} {"concept_id": "C1860449", "aliases": ["Hindfoot equinus", "Equinus deformity of the calcaneus"], "types": ["T033"], "canonical_name": "Equinus calcaneus", "definition": "Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. [HPO:probinson]"} {"concept_id": "C1860450", "aliases": ["Calcaneovalgus Foot", "Calcaneovalgus", "Valgus position of the calcaneus"], "types": ["T190"], "canonical_name": "Calcaneovalgus deformity", "definition": "This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus). [HPO:probinson]"} {"concept_id": "C1860475", "aliases": ["Tortuous retinal vessels"], "types": ["T033"], "canonical_name": "Retinal vascular tortuosity", "definition": "The presence of an increased number of twists and turns of the retinal blood vessels. [HPO:probinson]"} {"concept_id": "C1860488", "aliases": ["Abnormality of internal carotid artery"], "types": ["T190"], "canonical_name": "Abnormal internal carotid artery morphology", "definition": "An abnormality of an internal carotid artery. [GOC:TermGenie]"} {"concept_id": "C1860493", "aliases": ["Pectus deformity", "Abnormality of the sternum", "Pectus deformities", "Sternal anomalies"], "types": ["T190"], "canonical_name": "Abnormal sternum morphology", "definition": "An anomaly of the sternum, also known as the breastbone. [HPO:probinson]"} {"concept_id": "C1860601", "aliases": ["Flat head of thigh bone", "Flattened femoral head"], "types": ["T033"], "definition": "An abnormally flattened femoral head. [HPO:probinson]", "canonical_name": "Flattened femoral heads"} {"concept_id": "C1860606", "aliases": ["Short proximal phalanx of finger", "Short innermost finger bones", "Hypoplasia of the proximal phalanges of the hand", "Shortening in proximal phalanges", "Short proximal phalanges"], "types": ["T019"], "canonical_name": "Short proximal phalanx of finger", "definition": "Congenital hypoplasia of one or more proximal phalanx of finger. [HPO:probinson]"} {"concept_id": "C1860607", "aliases": ["Uncombable hair"], "types": ["T033"], "canonical_name": "Uncombable hair", "definition": "Hair that is disorderly, stands out from the scalp, and cannot be combed flat. []"} {"concept_id": "C1860608", "aliases": [], "types": ["T033"], "canonical_name": "Pili canaliculi", "definition": "Uncombable hair. [HPO:probinson]"} {"concept_id": "C1860614", "aliases": ["Underdeveloped ulna", "Ulnar hypoplasia", "Hypoplasia of the ulna", "Hypoplastic ulna"], "types": ["T019", "T047"], "definition": "Underdevelopment of the ulna. [HPO:curators]", "canonical_name": "Underdeveloped inner large forearm bone"} {"concept_id": "C1860710", "aliases": ["Punched out areas of chorioretinal hypopigmentation"], "types": ["T033"], "canonical_name": "Achromatic retinal patches", "definition": "Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. [HPO:probinson, PMID:11264130]"} {"concept_id": "C1860711", "aliases": ["Tooth enamel pits", "Dental enamel pitting", "Dental enamel pits", "Pitting of tooth enamel"], "types": ["T033"], "canonical_name": "Dental enamel pits", "definition": "The presence of small depressions in the dental enamel. [HPO:curators]"} {"concept_id": "C1860785", "aliases": ["Three rows of eyelashes", "Triple row of eyelashes"], "types": ["T033"], "canonical_name": "Three rows of eyelashes"} {"concept_id": "C1860791", "aliases": [], "types": ["T190"], "canonical_name": "Duodenal stenosis/atresia"} {"concept_id": "C1860796", "aliases": ["Shallow acetabula", "Shallow acetabulae"], "types": ["T033"], "canonical_name": "Shallow acetabulum"} {"concept_id": "C1860816", "aliases": ["Skin tag in front of the ear", "Preauricular fibroepithelial polyp", "Preauricular skin tag", "Preauricular tags", "Preauricular acrochordon", "Preauricular skin tags", "Periauricular skin tag", "Preauricular tag"], "types": ["T033"], "definition": "A small preauricular skin tag.", "canonical_name": "Ear tag"} {"concept_id": "C1860819", "aliases": [], "types": ["T019"], "definition": "Premature fusion of the metopic suture. [DDD:awilkie]", "canonical_name": "Metopic synostosis"} {"concept_id": "C1860825", "aliases": ["Accelerated bone age after puberty"], "types": ["T033"], "canonical_name": "Accelerated bone age after puberty"} {"concept_id": "C1860826", "aliases": [], "types": ["T047"], "definition": "Deformity of the hip characterized by enlargement and deformation of the FEMUR HEAD and FEMUR NECK, often with associated changes in the ACETABULUM. These changes may be secondary to other diseases (e.g. LEGG-PERTHES DISEASE; ARTHRITIS; HIP DISLOCATION, CONGENITAL) or TRAUMA.", "canonical_name": "Coxa magna"} {"concept_id": "C1860828", "aliases": ["Cone-shaped epiphyses of middle phalanges", "Cone-shaped end part of the middle hand bones"], "types": ["T033"], "canonical_name": "Cone-shaped epiphyses of the middle phalanges of the hand"} {"concept_id": "C1860834", "aliases": ["Hypotonia early", "Infantile muscular hypotonia", "Decreased muscle tone in infant", "Hypotonia in infancy", "Infantile hypotonia"], "types": ["T033"], "definition": "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. [HPO:curators]", "canonical_name": "Hypotonia, early"} {"concept_id": "C1860841", "aliases": ["Swelling of innermost hinge joints"], "types": ["T033"], "canonical_name": "Swelling of proximal interphalangeal joints"} {"concept_id": "C1860844", "aliases": [], "types": ["T184"], "canonical_name": "Thin, sparse hair"} {"concept_id": "C1860855", "aliases": ["Obliteration of cranial cancellous bone"], "types": ["T033"], "canonical_name": "Obliteration of the calvarial diploe", "definition": "Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe). [HPO:probinson]"} {"concept_id": "C1860972", "aliases": ["Chin spasms", "Chin myoclonus"], "types": ["T033"], "definition": "Involuntary and irregular twitches of the chin. [HPO:probinson, PMID:16816905]", "canonical_name": "Geniospasm"} {"concept_id": "C1861141", "aliases": ["Middle ear abnormalities", "Middle ear abnormality"], "types": ["T033"], "canonical_name": "Abnormality of the middle ear", "definition": "An abnormality of the middle ear. [HPO:probinson]"} {"concept_id": "C1861199", "aliases": ["Irregular costochondral margins"], "types": ["T033"], "canonical_name": "Irregular chondrocostal junctions", "definition": "Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. [HPO:probinson]"} {"concept_id": "C1861213", "aliases": [], "types": ["T033"], "canonical_name": "Wide-cupped costochondral junctions"} {"concept_id": "C1861217", "aliases": ["Little foramen magnum", "Narrow foramen magnum", "Foramen magnum stenosis"], "types": ["T033"], "definition": "An abnormal narrowing of the foramen magnum. [HPO:probinson]", "canonical_name": "Small foramen magnum"} {"concept_id": "C1861218", "aliases": ["Short and small iliac bones", "Small iliac bones"], "types": ["T033"], "canonical_name": "Hypoplastic ilia", "definition": "Underdevelopment of the ilium. [HPO:probinson]"} {"concept_id": "C1861226", "aliases": ["Small abnormally formed shoulder blade", "Small abnormally formed scapula"], "types": ["T033"], "canonical_name": "Small abnormally formed scapulae"} {"concept_id": "C1861239", "aliases": [], "types": ["T033"], "canonical_name": "Plantar flexion contractures"} {"concept_id": "C1861248", "aliases": ["Small dilated blood vessels in fingerpads", "Finger pad telangiectases"], "types": ["T033"], "canonical_name": "Fingerpad telangiectases", "definition": "Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. [HPO:curators]"} {"concept_id": "C1861310", "aliases": [], "types": ["T033"], "canonical_name": "Progressive fusion 2nd-5th pip joints"} {"concept_id": "C1861316", "aliases": [], "types": ["T033"], "canonical_name": "Radially deviated wrists"} {"concept_id": "C1861324", "aliases": ["Decreased vertical dimension of philtrum", "Vertical hypoplasia of philtrum", "Decreased length of philtrum", "Decreased height of philtrum"], "types": ["T033"], "canonical_name": "Short philtrum", "definition": "Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. [PMID:19152422]"} {"concept_id": "C1861325", "aliases": ["Progressive conductive deafness"], "types": ["T033"], "canonical_name": "Progressive conductive hearing impairment", "definition": "A progressive type of conductive deafness. [HPO:probinson]"} {"concept_id": "C1861326", "aliases": ["Stapes fixation"], "types": ["T190"], "canonical_name": "Stapes ankylosis", "definition": "Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). [HPO:probinson, PMID:12089654]"} {"concept_id": "C1861328", "aliases": ["Small septum of nose", "Decreased size of nasal septum", "Decreased size of septum of nose", "Hypoplasia of septum of nose", "Small nasal septum"], "types": ["T033"], "canonical_name": "Hypoplastic nasal septum", "definition": "Underdevelopment of the nasal septum. [HPO:curators]"} {"concept_id": "C1861329", "aliases": ["Spinal stenosis", "Narrow spinal canal"], "types": ["T190"], "definition": "An abnormal narrowing of the spinal canal. [HPO:probinson]", "canonical_name": "Spinal canal stenosis"} {"concept_id": "C1861331", "aliases": ["Limited pronation/supination of forearm"], "types": ["T033"], "canonical_name": "Limited pronation/supination of forearm", "definition": "A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). [HPO:probinson]"} {"concept_id": "C1861336", "aliases": ["Small or absent distal phalanges", "Absent/hypoplastic distal phalanges", "Hypoplastic/aplastic distal phalanx", "Absent/underdeveloped outermost finger bone of the hand", "Aplasia/Hypoplasia of the distal phalanges", "Absent/small outermost finger bone of the hand", "Hypoplastic to absent terminal phalanges", "Aplastic/hypoplastic distal phalanges", "Hypoplastic/aplastic distal phalanges"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the distal phalanges of the hand", "definition": "Absence or underdevelopment of the distal phalanges. [HPO:curators]"} {"concept_id": "C1861339", "aliases": ["Absent outermost digital bones"], "types": ["T033"], "canonical_name": "Absent distal phalanges", "definition": "Aplasia (absence) of the distal phalanges. [HPO:curators]"} {"concept_id": "C1861349", "aliases": ["Distal finger flexion creases absent", "Aplasia of the distal interphalangeal creases", "Absence of skin creases over distal interphalangeal joints"], "types": ["T033"], "canonical_name": "Absent distal interphalangeal creases", "definition": "Absence of the distal interphalangeal flexion creases of the fingers. [HPO:curators]"} {"concept_id": "C1861350", "aliases": ["Enlarged innermost hinge joint"], "types": ["T033"], "canonical_name": "Enlarged proximal interphalangeal joints"} {"concept_id": "C1861357", "aliases": [], "types": ["T033"], "canonical_name": "1-5 finger complete cutaneous syndactyly"} {"concept_id": "C1861360", "aliases": ["6 long bones of hand"], "types": ["T033"], "canonical_name": "6 metacarpals"} {"concept_id": "C1861373", "aliases": ["Y-shaped long bone of hand"], "types": ["T033"], "canonical_name": "Y-shaped metacarpals", "definition": "Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. [HPO:curators]"} {"concept_id": "C1861376", "aliases": ["Underdeveloped 2nd-5th middle toe bones"], "types": ["T033"], "canonical_name": "2nd-5th toe middle phalangeal hypoplasia"} {"concept_id": "C1861385", "aliases": ["Proximal symphalangism"], "types": ["T047"], "definition": "A very rare genetic bone disorder with characteristics of ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.", "canonical_name": "Cushing's symphalangism"} {"concept_id": "C1861388", "aliases": ["Short fifth metacarpal", "Fifth metacarpal hypoplasia", "Shortened 5th long bone of hand", "Short fifth metacarpals", "Hypoplastic 5th metacarpal"], "types": ["T033"], "canonical_name": "Short 5th metacarpal", "definition": "Short fifth metacarpal bone. [HPO:probinson]"} {"concept_id": "C1861395", "aliases": ["Hypothenar hypoplasia", "Hypoplasia of the hypothenar eminence"], "types": ["T033"], "canonical_name": "Small hypothenar eminence", "definition": "Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. [HPO:probinson, PMID:19125433]"} {"concept_id": "C1861396", "aliases": ["Decreased space in hinge joint"], "types": ["T033"], "canonical_name": "Reduced proximal interphalangeal joint space"} {"concept_id": "C1861400", "aliases": [], "types": ["T033"], "canonical_name": "Absent dorsal skin creases over affected joints"} {"concept_id": "C1861401", "aliases": ["Symphalangism, distal"], "types": ["T019"], "definition": "Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.", "canonical_name": "Distal symphalangism"} {"concept_id": "C1861403", "aliases": ["Variable severity"], "types": ["T033"], "canonical_name": "Variable expressivity", "definition": "A variable severity of phenotypic features. [HPO:probinson]"} {"concept_id": "C1861443", "aliases": ["Facial hemangiomata"], "types": ["T033"], "canonical_name": "Facial hemangioma", "definition": "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face. [HPO:curators]"} {"concept_id": "C1861460", "aliases": [], "types": ["T033"], "canonical_name": "Proximal limb muscle stiffness", "definition": "Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle. [https://orcid.org/0000-0001-5208-3432]"} {"concept_id": "C1861517", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal facility in opposing the shoulders"} {"concept_id": "C1861519", "aliases": ["Short stature, moderate", "Moderate short stature"], "types": ["T033"], "canonical_name": "Moderately short stature", "definition": "A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. [DDD:hfirth]"} {"concept_id": "C1861528", "aliases": [], "types": ["T033"], "canonical_name": "Delayed mineralization of pubic bone"} {"concept_id": "C1861531", "aliases": ["Long 2nd long bone of hand"], "types": ["T033"], "canonical_name": "Long second metacarpal"} {"concept_id": "C1861544", "aliases": [], "types": ["T033"], "canonical_name": "Lower lip pit", "definition": "Depression located on the vermilion of the lower lip, usually paramedian. [HPO:sdoelken, PMID:19125428]"} {"concept_id": "C1861621", "aliases": [], "types": ["T033"], "canonical_name": "Intrahepatic duct deficiency"} {"concept_id": "C1861627", "aliases": [], "types": ["T033"], "canonical_name": "Butterfly vertebral arch", "definition": "Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends. [HPO:probinson]"} {"concept_id": "C1861656", "aliases": [], "types": ["T033"], "definition": "Inferior malposition of the lower eyelid margin without eyelid eversion. [HPO:probinson, PMID:10946945]", "canonical_name": "Lower eyelid retraction"} {"concept_id": "C1861675", "aliases": [], "types": ["T033"], "canonical_name": "Cold-induced muscle cramps", "definition": "Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures. [HPO:probinson]"} {"concept_id": "C1861693", "aliases": [], "types": ["T047"], "definition": "Dysplasia of the cervical vertebral column. [HPO:probinson]", "canonical_name": "Cervical vertebral dysplasia"} {"concept_id": "C1861704", "aliases": [], "types": ["T033"], "canonical_name": "Anomalous rib insertion to vertebrae"} {"concept_id": "C1861708", "aliases": [], "types": ["T033"], "canonical_name": "Calcaneal epiphyseal stippling", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus. [HPO:probinson]"} {"concept_id": "C1861783", "aliases": ["Coeliac axis syndrome", "Dunbar syndrome", "Celiac artery compression", "Celiac axis syndrome", "Coeliac artery compression"], "types": ["T047"], "definition": "Compression of the CELIAC ARTERY by the median arcuate ligament, a fibrous band of the DIAPHRAGM, causing abdominal pain after eating and weight loss. OMIM: 116870", "canonical_name": "Median arcuate ligament syndrome"} {"concept_id": "C1861790", "aliases": ["Liver vascular malformations"], "types": ["T033"], "canonical_name": "Hepatic vascular malformations"} {"concept_id": "C1861791", "aliases": [], "types": ["T033"], "canonical_name": "Retinal vascular malformation"} {"concept_id": "C1861821", "aliases": [], "types": ["T047"], "definition": "Zonular cataracts are defined to be cataracts that affect specific regions of the lens. [HPO:probinson, HPO:vkumar, PMID:18035564]", "canonical_name": "Zonular cataract"} {"concept_id": "C1861832", "aliases": ["Frosted cataract", "Needle-shaped cataract", "Fasciculiform cataract"], "types": ["T033"], "definition": "A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. [HPO:probinson, PMID:9718335]", "canonical_name": "Aculeiform cataract"} {"concept_id": "C1861866", "aliases": ["Hypoplastic or absent corpus callosum", "Complete or partial absence of the corpus callosum", "Hypoplasia or absence of the corpus callosum", "Absent/hypoplastic corpus callosum", "Agenesis/hypoplastic corpus callosum"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the corpus callosum", "definition": "Absence or underdevelopment of the corpus callosum. [HPO:probinson]"} {"concept_id": "C1861869", "aliases": ["Depressed supraorbital ridge", "Flat supraorbital ridge", "Hypoplasia of the supraorbital ridges", "Flattened bony protrusion above eyes", "Shallow orbital ridges", "Shallow supraorbital ridge", "Flat supraorbital margins", "Hypoplastic supraorbital ridges", "Hypoplasia of supraorbital margins", "Depressed supraorbital margins"], "types": ["T019"], "canonical_name": "Underdeveloped supraorbital ridges", "definition": "Flatness of the supraorbital portion of the frontal bones. [HPO:curators, PMID:19125436]"} {"concept_id": "C1861872", "aliases": ["Multiple palm lines"], "types": ["T033"], "canonical_name": "Multiple palmar creases", "definition": "The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease). [HPO:probinson]"} {"concept_id": "C1861873", "aliases": [], "types": ["T033"], "canonical_name": "Multiple plantar creases"} {"concept_id": "C1861901", "aliases": [], "types": ["T033"], "canonical_name": "Subacute progressive viral hepatitis"} {"concept_id": "C1861921", "aliases": ["Cutaneous syndactyly of digits", "Syndactyly, cutaneous"], "types": ["T019"], "canonical_name": "Cutaneous syndactyly", "definition": "A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. [HPO:probinson]"} {"concept_id": "C1861937", "aliases": ["Anterior bowing of tibia"], "types": ["T033"], "canonical_name": "Anterior tibial bowing", "definition": "An abnormal anterior bending or curvature of the tibia. [HPO:probinson]"} {"concept_id": "C1861975", "aliases": [], "types": ["T033", "T047"], "definition": "The presence of six or more cafe-au-lait spots. [DDD:cmoss]", "canonical_name": "Multiple cafe-au-lait spots"} {"concept_id": "C1862050", "aliases": [], "types": ["T033"], "canonical_name": "Cochlear malformation", "definition": "The presence of a malformed cochlea. [HPO:probinson]"} {"concept_id": "C1862052", "aliases": [], "types": ["T033"], "canonical_name": "Gustatory lacrimation", "definition": "Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. [HPO:sdoelken]"} {"concept_id": "C1862059", "aliases": ["Supraauricular sinus", "Supraauricular sinuses", "Supraauricular fistula", "Pit above the ear"], "types": ["T019"], "canonical_name": "Supraauricular pit", "definition": "Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit. [HPO:sdoelken]"} {"concept_id": "C1862062", "aliases": [], "types": ["T191"], "definition": "A retinal hamartoma that involves cellular elements of both the retina and the retinal pigment epithelium. (WHO 2018)", "canonical_name": "Combined hamartoma of the retinal pigment epithelium and retina"} {"concept_id": "C1862066", "aliases": ["Branchial abnormality", "Abnormality of branchial arch", "Branchial anomalies", "Abnormality of branchial apparatus"], "types": ["T019"], "canonical_name": "Branchial anomaly", "definition": "Congenital developmental defect arising from the primitive branchial apparatus. [HPO:sdoelken]"} {"concept_id": "C1862068", "aliases": [], "types": ["T033"], "canonical_name": "Fusion of middle ear ossicles", "definition": "Bony fusion of malleus, incus, and stapes. [HPO:probinson]"} {"concept_id": "C1862083", "aliases": ["Short fourth toe", "Short 4th toe"], "types": ["T019"], "canonical_name": "Short 4th toe", "definition": "Underdevelopment (hypoplasia) of the fourth toe. [HPO:probinson]"} {"concept_id": "C1862087", "aliases": ["Mesomelia of the upper limbs", "Upper limb brachymesomelia"], "types": ["T033"], "canonical_name": "Mesomelic arm shortening", "definition": "Shortening of the middle parts of the arm in relation to the upper and terminal segments. [HPO:sdoelken]"} {"concept_id": "C1862095", "aliases": [], "types": ["T033"], "canonical_name": "Bilateral single transverse palmar creases", "definition": "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. [HPO:probinson]"} {"concept_id": "C1862096", "aliases": ["Missing middle phalanges", "Absent middle phalanges", "Absent middle bones of hand"], "types": ["T033"], "canonical_name": "Aplasia of the middle phalanx of the hand", "definition": "Absence of one or more middle phalanx of a finger. [HPO:probinson]"} {"concept_id": "C1862097", "aliases": ["Chess-pawn shaped outermost bone"], "types": ["T033"], "canonical_name": "Chess-pawn distal phalanges", "definition": "A morphological abnormality of distal phalanges such that they have the appearance of chess pawns. [HPO:probinson]"} {"concept_id": "C1862103", "aliases": [], "types": ["T019"], "definition": "A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.", "canonical_name": "Type C brachydactyly"} {"concept_id": "C1862131", "aliases": [], "types": ["T033"], "canonical_name": "Dysplastic distal radial epiphyses", "definition": "Abnormally developed (dysplastic) distal epiphysis of the radius. [HPO:curators]"} {"concept_id": "C1862132", "aliases": ["Short ulna"], "types": ["T033"], "canonical_name": "Short ulnae"} {"concept_id": "C1862133", "aliases": ["Decreased finger mobility", "Decreased finger movement"], "types": ["T033"], "canonical_name": "Decreased finger mobility"} {"concept_id": "C1862136", "aliases": ["Abnormal tarsals", "Abnormal ankle bones"], "types": ["T033"], "canonical_name": "Abnormality of the tarsal bones", "definition": "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. [HPO:curators]"} {"concept_id": "C1862139", "aliases": [], "types": ["T019"], "definition": "A very rare congenital malformation with brachymesophalangy affecting mainly the second and the fifth digit. When the fourth digit is affected, it results in an abnormally shaped middle phalanx, leading to radial deviation of the distal phalanx. Absence of the middle phalanges of the lateral four toes has been reported. Autosomal dominant inheritance is suggested.", "canonical_name": "Type A4 brachydactyly"} {"concept_id": "C1862140", "aliases": [], "types": ["T019"], "definition": "A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait.", "canonical_name": "Type A3 brachydactyly"} {"concept_id": "C1862142", "aliases": ["Short index fingers", "Short index finger", "Hypoplastic/small index finger", "Short index finger phalanges", "Hypoplastic index finger phalanges"], "types": ["T033"], "canonical_name": "Short 2nd finger", "definition": "Hypoplasia of the second finger, also known as the index finger. [HPO:sdoelken]"} {"concept_id": "C1862144", "aliases": ["Absent/underdeveloped middle index finger bone", "Absent/small middle index finger bone", "Hypoplastic/aplastic middle phalanx of index finger", "Absent/hypoplastic middle phalanx of 2nd finger"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the middle phalanx of the 2nd finger"} {"concept_id": "C1862147", "aliases": [], "types": ["T033"], "canonical_name": "Medially deviated second toe", "definition": "Medial deviation of the second toe. [HPO:probinson]"} {"concept_id": "C1862151", "aliases": [], "types": ["T047"], "definition": "A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait.", "canonical_name": "Type A1 brachydactyly"} {"concept_id": "C1862152", "aliases": ["Absent/small middle finger bone of the hand", "Aplasia/hypoplasia of middle phalanges", "Short/absent middle phalanges", "Hypoplastic/aplastic middle phalanx", "Absent/hypoplastic middle phalanges", "Absent/underdeveloped middle finger bone of the hand", "Aplastic/hypoplastic middle phalanges", "Short to absent middle phalanges"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the middle phalanges of the hand"} {"concept_id": "C1862156", "aliases": [], "types": ["T033"], "canonical_name": "Thin proximal phalanges with broad epiphyses"} {"concept_id": "C1862157", "aliases": ["Proportionate shortening of all digits"], "types": ["T019"], "canonical_name": "Proportionate shortening of all digits"} {"concept_id": "C1862158", "aliases": ["Fused outermost bones of hand", "Symphalangism affecting the distal phalanges of the hand", "Terminal symphalangism", "Synostosis of distal phalanges"], "types": ["T033"], "definition": "The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. [HPO:sdoelken]", "canonical_name": "Distal symphalangism of hands"} {"concept_id": "C1862159", "aliases": ["Small proximal phalanx of hallux", "Hypoplastic proximal phalanx of the hallux", "Short proximal phalanges of halluces", "Short proximal phalanx of halluces", "Short innermost big toe bone", "Small proximal phalanx of big toe"], "types": ["T033"], "canonical_name": "Short proximal phalanx of hallux", "definition": "Underdevelopment (hypoplasia) of the proximal phalanx of big toe. [HPO:probinson]"} {"concept_id": "C1862184", "aliases": ["Chronic consumption coagulopathy", "Compensated disseminated intravascular coagulation"], "types": ["T047"], "canonical_name": "Chronic disseminated intravascular coagulation", "definition": "A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced. [HPO:probinson]"} {"concept_id": "C1862265", "aliases": ["Increased circulating gonadotropin level", "Elevated serum gonadotropins", "Elevated gonadotropins", "Gonadotropin excess"], "types": ["T033"], "canonical_name": "Increased circulating gonadotropin level", "definition": "Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. [DDD:spark]"} {"concept_id": "C1862304", "aliases": [], "types": ["T047"], "definition": "Polyp-like protrusions which are histologically hamartomas located in the stomach. [HPO:probinson]", "canonical_name": "Hamartomatous stomach polyps"} {"concept_id": "C1862313", "aliases": ["Small terminal thumb phalanx", "Hypoplastic terminal thumb phalanx", "Hypoplastic/small distal phalanx of the thumb", "Short outermost bone of the thumb", "Short thumb terminal phalanx", "Short terminal thumb phalanx"], "types": ["T033"], "canonical_name": "Short distal phalanx of the thumb", "definition": "Hypoplastic (short) distal phalanx of the thumb. [HPO:sdoelken]"} {"concept_id": "C1862314", "aliases": [], "types": ["T191"], "canonical_name": "Basal cell nevus"} {"concept_id": "C1862359", "aliases": [], "types": ["T033"], "canonical_name": "Facial-lingual fasciculations", "definition": "Fasciculations affecting the tongue muscle and the musculature of the face. [HPO:probinson]"} {"concept_id": "C1862376", "aliases": ["Prominent Schwalbe lines"], "types": ["T033"], "canonical_name": "Abnormally prominent line of Schwalbe"} {"concept_id": "C1862415", "aliases": ["Cervical spine segmentation defect"], "types": ["T033"], "canonical_name": "Cervical segmentation defect", "definition": "An abnormality related to a defect of vertebral separation of cervical vertebrae during development. [HPO:probinson]"} {"concept_id": "C1862420", "aliases": ["Tombstone-shaped innermost digital bones"], "types": ["T033"], "canonical_name": "Tombstone-shaped proximal phalanges"} {"concept_id": "C1862421", "aliases": ["Widened outermost bone of limb"], "types": ["T033"], "canonical_name": "Widened distal phalanges"} {"concept_id": "C1862425", "aliases": [], "types": ["T033"], "canonical_name": "Prominent globes"} {"concept_id": "C1862428", "aliases": [], "types": ["T033"], "canonical_name": "Thoracic platyspondyly", "definition": "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine. [HPO:probinson]"} {"concept_id": "C1862474", "aliases": ["Decreased facial expressions", "Decreased facial expression"], "types": ["T033"], "canonical_name": "Decreased facial expression", "definition": "A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. [HPO:probinson]"} {"concept_id": "C1862475", "aliases": ["Abnormal retinal pigmentation", "Abnormality of retinal pigmentation"], "types": ["T033"], "canonical_name": "Retinal pigmentary anomaly"} {"concept_id": "C1862479", "aliases": ["Absent interphalangeal creases"], "types": ["T033"], "canonical_name": "Absent phalangeal crease", "definition": "Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). [HPO:probinson]"} {"concept_id": "C1862481", "aliases": [], "types": ["T033"], "canonical_name": "Limited wrist extension"} {"concept_id": "C1862491", "aliases": ["Internally rotated shoulders"], "types": ["T033"], "canonical_name": "Internally rotated shoulders"} {"concept_id": "C1862496", "aliases": [], "types": ["T191"], "canonical_name": "Facial midline hemangioma", "definition": "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face. [HPO:curators]"} {"concept_id": "C1862499", "aliases": ["Underdeveloped biceps", "Hypoplastic biceps"], "types": ["T033"], "canonical_name": "Biceps hypoplasia", "definition": "Underdevelopment of the biceps muscle. [HPO:curators]"} {"concept_id": "C1862689", "aliases": ["Stahl ear", "Third crus"], "types": ["T019"], "definition": "The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix. [HPO:sdoelken]", "canonical_name": "Additional crus"} {"concept_id": "C1862693", "aliases": ["Pseudoepiphysis of the 2nd metacarpal", "Extra bone on end of second long bone of hand"], "types": ["T033"], "canonical_name": "Pseudoepiphyses of second metacarpal"} {"concept_id": "C1862697", "aliases": ["Synostosis involving metatarsal bones", "Fusion of the long bones of the feet", "Fusion of metatarsals"], "types": ["T033"], "canonical_name": "Metatarsal synostosis"} {"concept_id": "C1862698", "aliases": ["Absent/underdeveloped 3rd toe", "Absent/small 3rd toe", "Absent/hypoplastic third toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the 3rd toe"} {"concept_id": "C1862761", "aliases": [], "types": ["T033"], "canonical_name": "Increased hepatocellular carcinoma risk"} {"concept_id": "C1862839", "aliases": ["Anterior segment ocular dysgenesis", "Anterior segment dysgenesis", "Ocular anterior segment dysgenesis", "Anterior segment mesencyhmal dysgenesis", "Anterior chamber cleavage disorder", "Anterior chamber malformation", "Anterior segment developmental abnormality", "Anterior chamber mesodermal anomalies"], "types": ["T019"], "definition": "Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. [DDD:ncarter]", "canonical_name": "Anterior chamber cleavage defect"} {"concept_id": "C1862855", "aliases": [], "types": ["T033"], "canonical_name": "Sparse to absent eyelashes"} {"concept_id": "C1862862", "aliases": ["Patchy baldness", "Patchy alopecia"], "types": ["T033"], "definition": "Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. []", "canonical_name": "Alopecia areata"} {"concept_id": "C1862863", "aliases": ["Little body hair", "Limited body hair", "Sparse body hair", "Sparse to absent body hair"], "types": ["T033"], "canonical_name": "Sparse body hair", "definition": "Sparseness of the body hair. [HPO:probinson]"} {"concept_id": "C1862968", "aliases": ["Generalised amyloid deposition"], "types": ["T033"], "canonical_name": "Generalized amyloid deposition", "definition": "A diffuse form of amyloidosis. [HPO:probinson]"} {"concept_id": "C1863008", "aliases": ["Yellow-brown discoloration of the teeth", "Yellow-brown discolored teeth", "Yellow-brown discoloured teeth", "Yellow-brown tooth shade"], "types": ["T033"], "canonical_name": "Yellow-brown discoloration of the teeth"} {"concept_id": "C1863009", "aliases": ["Severe delay of eruption of adult teeth", "Very late eruption of permanent teeth", "Very late eruption of adult teeth", "Severe delay of eruption of permanent teeth"], "types": ["T033"], "canonical_name": "Marked delay in eruption of permanent teeth"} {"concept_id": "C1863051", "aliases": [], "types": ["T047"], "canonical_name": "Late-onset form of familial Alzheimer disease"} {"concept_id": "C1863061", "aliases": [], "types": ["T033"], "canonical_name": "Episodic hemiplegia", "definition": "Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body. [HPO:probinson]"} {"concept_id": "C1863062", "aliases": ["Quadriplegia, episodic"], "types": ["T047"], "canonical_name": "Episodic quadriplegia", "definition": "Intermittent episodes of paralysis of all four limbs. [HPO:probinson]"} {"concept_id": "C1863184", "aliases": ["Calcified choroid plexus"], "types": ["T046"], "canonical_name": "Choroid plexus calcification", "definition": "The presence of calcium deposition in the choroid plexus. [HPO:probinson]"} {"concept_id": "C1863200", "aliases": ["Hypoplastic lacrimal gland", "Underdeveloped tear gland"], "types": ["T033"], "canonical_name": "Lacrimal gland hypoplasia", "definition": "Underdevelopment of the lacrimal gland. [HPO:probinson]"} {"concept_id": "C1863201", "aliases": ["Atretic lacrimal punctum", "Atretic lacrimal puncta"], "types": ["T019"], "canonical_name": "Lacrimal punctal atresia", "definition": "Congenital absence or closure of the opening of the lacrimal punctum. [HPO:probinson]"} {"concept_id": "C1863246", "aliases": [], "types": ["T033"], "canonical_name": "Absent specific antibody response", "definition": "Absence of specific immunoglobulins directed against a specific antigen or microorganism. [PMID:17100769]"} {"concept_id": "C1863311", "aliases": [], "types": ["T033"], "canonical_name": "Elongated sella turcica"} {"concept_id": "C1863313", "aliases": [], "types": ["T033"], "canonical_name": "Tall lumbar vertebral bodies"} {"concept_id": "C1863314", "aliases": [], "types": ["T033"], "canonical_name": "Cervical instability"} {"concept_id": "C1863317", "aliases": ["Crowded wrist bones"], "types": ["T033"], "canonical_name": "Crowded carpal bones"} {"concept_id": "C1863349", "aliases": ["Dimple on nasal tip", "Dimpled tip of nose"], "types": ["T033"], "canonical_name": "Dimple on nasal tip", "definition": "An abnormal indentation of the skin in the region of the nasal tip. [HPO:sdoelken]"} {"concept_id": "C1863351", "aliases": ["Thick calvarial bones", "Calvarial hyperostosis"], "types": ["T033"], "definition": "Excessive growth of the calvaria. [HPO:probinson]", "canonical_name": "Hyperostosis of calvarial bones"} {"concept_id": "C1863353", "aliases": ["Small vertebral bodies", "Small vertebrae", "Underdeveloped back bones"], "types": ["T019"], "canonical_name": "Hypoplastic vertebral bodies"} {"concept_id": "C1863360", "aliases": [], "types": ["T033"], "canonical_name": "Radiohumeral synostosis of elbow"} {"concept_id": "C1863382", "aliases": ["Absent 1st long bone of foot", "Aplasia of the 1st metatarsal", "Absent 1st metatarsal"], "types": ["T033"], "canonical_name": "Absent first metatarsal", "definition": "A developmental defect characterized by the absence of the first metatarsal bone. [HPO:probinson]"} {"concept_id": "C1863392", "aliases": ["Limbic malformation"], "types": ["T033"], "canonical_name": "Abnormal morphology of the limbic system", "definition": "Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. []"} {"concept_id": "C1863395", "aliases": [], "types": ["T019"], "definition": "An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures. [HPO:curators]", "canonical_name": "Acrobrachycephaly"} {"concept_id": "C1863402", "aliases": ["Wide distal phalanx of thumb", "Broad terminal thumb phalanx", "Broad outermost bone of the thumb", "Wide outermost bone of thumb"], "types": ["T033"], "canonical_name": "Broad distal phalanx of the thumb", "definition": "Increased width of the distal phalanx of thumb. [HPO:sdoelken]"} {"concept_id": "C1863403", "aliases": ["Broad distal big toe"], "types": ["T033"], "canonical_name": "Broad distal hallux"} {"concept_id": "C1863406", "aliases": ["Abnormal tracheal cartilaginous ring"], "types": ["T033"], "canonical_name": "Anomalous tracheal cartilage", "definition": "An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue). []"} {"concept_id": "C1863408", "aliases": [], "types": ["T033"], "canonical_name": "Juvenile posterior subcapsular lenticular opacities"} {"concept_id": "C1863411", "aliases": [], "types": ["T191"], "canonical_name": "Retinal hamartoma", "definition": "A hamartoma composed of normal retinal elements but lacks the distribution and organization of the normal retina and retinal pigment epithelium. (WHO 2018)"} {"concept_id": "C1863423", "aliases": ["Hunched back in infancy", "Round back in infancy"], "types": ["T033"], "canonical_name": "Lumbar kyphosis in infancy"} {"concept_id": "C1863492", "aliases": ["Absent cutis congenita over parietal area"], "types": ["T019"], "canonical_name": "Aplasia cutis congenita over parietal area", "definition": "A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area. [HPO:curators]"} {"concept_id": "C1863495", "aliases": [], "types": ["T019"], "canonical_name": "Aplasia cutis congenita over posterior parietal area"} {"concept_id": "C1863496", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia cutis congenita on trunk or limbs", "definition": "A developmental defect resulting in the congenital absence of skin on the trunk or the limbs. [HPO:curators]"} {"concept_id": "C1863653", "aliases": [], "types": ["T033"], "canonical_name": "Unilateral vestibular schwannoma", "definition": "A unilateral vestibular Schwannoma (acoustic neurinoma). [HPO:curators]"} {"concept_id": "C1863715", "aliases": ["Absent B cells"], "types": ["T033"], "canonical_name": "Severe B lymphocytopenia", "definition": "A severe form of B lymphocytopenia in which the count of B cells is very low or absent. [HPO:probinson]"} {"concept_id": "C1863734", "aliases": ["Caudal narrowing of interpedicular distances"], "types": ["T033"], "canonical_name": "Caudal interpedicular narrowing", "definition": "Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine. [HPO:probinson]"} {"concept_id": "C1863739", "aliases": ["Narrow femoral necks", "Narrow neck of thigh bone"], "types": ["T033"], "canonical_name": "Narrow femoral neck", "definition": "An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). [HPO:probinson]"} {"concept_id": "C1863749", "aliases": ["Small carpal bones", "Small carpals", "Hypoplastic carpal bones", "Hypoplasia of carpal bones"], "types": ["T033"], "canonical_name": "Carpal bone hypoplasia", "definition": "Underdevelopment of one or more carpal bones. [HPO:probinson]"} {"concept_id": "C1863752", "aliases": ["Widened vestibular aqueduct", "Dilated vestibular aqueduct"], "types": ["T033"], "definition": "Increased size of the vestibular aqueduct. [DDD:mbitner-glidicz]", "canonical_name": "Enlarged vestibular aqueduct"} {"concept_id": "C1863872", "aliases": ["Notched upper eyelid", "Upper eyelid colobomas", "Coloboma of the upper eyelid", "Cleft upper eyelid", "Upper eyelid coloboma"], "types": ["T047"], "definition": "A short discontinuity of the margin of the upper eyelid. [HPO:probinson]", "canonical_name": "Full thickness defect of the upper eyelid"} {"concept_id": "C1864105", "aliases": [], "types": ["T033"], "canonical_name": "Low urinary cyclic AMP response to PTH administration"} {"concept_id": "C1864156", "aliases": [], "types": ["T033"], "canonical_name": "Conjunctivitis, recurrent"} {"concept_id": "C1864168", "aliases": [], "types": ["T033"], "canonical_name": "Palmar hyperlinearity", "definition": "Exaggerated skin markings (dermatoglyphics) on the palms of the hand. [PMID:23301728]"} {"concept_id": "C1864179", "aliases": [], "types": ["T033"], "canonical_name": "Elevated serum transaminases during infections", "definition": "Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections. [HPO:curators]"} {"concept_id": "C1864226", "aliases": ["Increased serum thymidine"], "types": ["T033"], "canonical_name": "Elevated circulating thymidine concentration", "definition": "Concentration of thymidine in the blood circulation above the normal range. []"} {"concept_id": "C1864238", "aliases": ["Prolonged miniature endplate potentials", "Prolonged MEPC", "Prolonged MEPP"], "types": ["T033"], "canonical_name": "Prolonged miniature endplate currents", "definition": "An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. [HPO:probinson]"} {"concept_id": "C1864298", "aliases": ["Overgrowth of calf bone"], "types": ["T033"], "canonical_name": "Fibular overgrowth", "definition": "Relatively increased growth of the fibula compared to that of the tibia. [HPO:probinson, PMID:17259417]"} {"concept_id": "C1864361", "aliases": ["Round mid-back"], "types": ["T033"], "canonical_name": "Lower thoracic kyphosis", "definition": "Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. [HPO:probinson]"} {"concept_id": "C1864364", "aliases": ["Narrow thoracolumbar interpediculate distance"], "types": ["T033"], "canonical_name": "Thoracolumbar interpediculate narrowness", "definition": "A reduction of the distance between thoracolumbar vertebral pedicles. [HPO:probinson]"} {"concept_id": "C1864365", "aliases": [], "types": ["T033"], "canonical_name": "Acromesomelia", "definition": "Small hands and feet. [HPO:probinson, PMID:22286749]"} {"concept_id": "C1864375", "aliases": ["Large halluces", "Increased length of the hallux", "Long big toe", "Long halluces"], "types": ["T033"], "canonical_name": "Long hallux", "definition": "Increased length of the big toe. [HPO:probinson]"} {"concept_id": "C1864449", "aliases": ["Limited neck flexibility", "Limited cervical flexion"], "types": ["T033"], "canonical_name": "Limited neck flexion", "definition": "Reduced abilty to lower the chin towards the chest by bending the neck. []"} {"concept_id": "C1864570", "aliases": [], "types": ["T033"], "canonical_name": "Insulin insensitivity", "definition": "Decreased sensitivity toward insulin. [HPO:probinson]"} {"concept_id": "C1864573", "aliases": ["Cataracts, posterior, subcapsular, iridescent"], "types": ["T033"], "canonical_name": "Iridescent posterior subcapsular cataract", "definition": "A type of posterior subcapsular cataract characterized by an iridescent color. [HPO:probinson, PMID:7826272]"} {"concept_id": "C1864580", "aliases": ["Type 2 muscle fibre atrophy", "Type 2 fibre atrophy", "Type 2 fiber atrophy"], "types": ["T046"], "canonical_name": "Type 2 muscle fiber atrophy", "definition": "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. [HPO:probinson]"} {"concept_id": "C1864584", "aliases": ["Frontal balding"], "types": ["T033"], "canonical_name": "Frontal balding", "definition": "Absence of hair in the anterior midline and/or parietal areas. [PMID:19125436]"} {"concept_id": "C1864696", "aliases": [], "types": ["T033"], "canonical_name": "Distal limb muscle weakness due to peripheral neuropathy"} {"concept_id": "C1864711", "aliases": [], "types": ["T033"], "canonical_name": "Muscle biopsy shows dystrophic changes"} {"concept_id": "C1864715", "aliases": ["Thenar atrophy"], "types": ["T033"], "canonical_name": "Thenar muscle atrophy", "definition": "Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. []"} {"concept_id": "C1864716", "aliases": [], "types": ["T033"], "canonical_name": "Intrinsic hand muscle atrophy", "definition": "Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. [HPO:probinson]"} {"concept_id": "C1864794", "aliases": ["Abnormal odontoid peg", "Abnormal odontoid process"], "types": ["T033"], "canonical_name": "Abnormality of the odontoid process", "definition": "Abnormality of the dens of the axis, which is also known as the odontoid process. [HPO:probinson]"} {"concept_id": "C1864795", "aliases": ["Pectus carinatum superiorly"], "types": ["T033"], "canonical_name": "Superior pectus carinatum", "definition": "Pectus carinatum affecting primarily the superior part of the sternum. [HPO:curators]"} {"concept_id": "C1864796", "aliases": ["Pectus excavatum inferiorly"], "types": ["T033"], "canonical_name": "Pectus excavatum of inferior sternum", "definition": "Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum. [HPO:probinson]"} {"concept_id": "C1864853", "aliases": ["Tall vertebral bodies"], "types": ["T033"], "canonical_name": "Increased vertebral height", "definition": "Increased top to bottom height of vertebral bodies. [HPO:probinson]"} {"concept_id": "C1864854", "aliases": ["Broad wide portion of thigh bone"], "types": ["T033"], "canonical_name": "Broad femoral metaphyses"} {"concept_id": "C1864873", "aliases": [], "types": ["T047"], "definition": "The deposition of calcium phosphate microliths within the seminiferous tubules. [HPO:probinson]", "canonical_name": "Testicular microlithiasis"} {"concept_id": "C1864897", "aliases": [], "types": ["T033"], "canonical_name": "Cognitive delay"} {"concept_id": "C1864903", "aliases": ["Hyperinsulinemia hypoglycemia", "Hyperinsulinemic hypoglycemia"], "types": ["T047"], "definition": "An increased concentration of insulin combined with a decreased concentration of glucose in the blood. [HPO:probinson]", "canonical_name": "Hyperinsulinaemic hypoglycaemia"} {"concept_id": "C1864912", "aliases": [], "types": ["T047"], "definition": "Increased concentration of 2-methylbutyryl glycine in the urine. [PMID:17883863, UCDenver:tjcallahan]", "canonical_name": "2-Methylbutyryl glycinuria"} {"concept_id": "C1864954", "aliases": ["High blood insulin levels while fasting"], "types": ["T033"], "canonical_name": "Fasting hyperinsulinemia", "definition": "An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. [HPO:probinson]"} {"concept_id": "C1864975", "aliases": [], "types": ["T033"], "canonical_name": "Osteomyelitis leading to amputation due to slow healing fractures"} {"concept_id": "C1864985", "aliases": [], "types": ["T033"], "canonical_name": "Progressive disorder"} {"concept_id": "C1865014", "aliases": ["Increased vertical dimension of philtrum", "Vertical hyperplasia of philtrum", "Elongated philtrum", "Increased length of philtrum", "Increased height of philtrum"], "types": ["T033"], "canonical_name": "Long philtrum", "definition": "Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. [PMID:19152422]"} {"concept_id": "C1865017", "aliases": ["Thin red part of the upper lip", "Decreased volume of upper lip", "Decreased volume of upper lip vermilion", "Thin upper lips", "Decreased height of upper lip vermilion", "Thin vermilion border of upper lip", "Thin upper lip"], "types": ["T033"], "canonical_name": "Thin upper lip vermilion", "definition": "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). [PMID:19125428]"} {"concept_id": "C1865027", "aliases": ["Hypoplastic iliac wings", "Small iliac wings", "Hypoplastic iliac alae"], "types": ["T190"], "canonical_name": "Hypoplastic iliac wing", "definition": "Underdevelopment of the ilium ala. [HPO:probinson]"} {"concept_id": "C1865030", "aliases": ["Hypoplastic pubic bones", "Hypoplastic pubis"], "types": ["T033"], "canonical_name": "Hypoplastic pubic bone", "definition": "Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. [HPO:probinson]"} {"concept_id": "C1865035", "aliases": ["Enlarged end part of long bone of hand"], "types": ["T033"], "canonical_name": "Enlarged metacarpal epiphyses", "definition": "Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges). [HPO:probinson]"} {"concept_id": "C1865036", "aliases": ["Enlarged end part of finger bones", "Enlarged epiphyses of the fingers", "Enlarged phalangeal epiphyses"], "types": ["T033"], "canonical_name": "Enlarged epiphyses of the phalanges of the hand", "definition": "Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C1865037", "aliases": ["Cone-shaped end part of bone", "Cone-shaped epiphysis", "Coned epiphyses"], "types": ["T033"], "definition": "Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. [HPO:probinson]", "canonical_name": "Cone-shaped epiphyses"} {"concept_id": "C1865038", "aliases": ["Broad toe", "Wide toe"], "types": ["T033"], "canonical_name": "Broad toe", "definition": "Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. [PMID:19125433]"} {"concept_id": "C1865039", "aliases": ["Cupped ribs", "Rib cupping"], "types": ["T033"], "canonical_name": "Cupped ribs", "definition": "Wide, concave rib end. [HPO:probinson]"} {"concept_id": "C1865045", "aliases": ["Symmetrical, oval defects in the parietal bone"], "types": ["T033"], "canonical_name": "Symmetrical, oval parietal bone defects"} {"concept_id": "C1865060", "aliases": ["'molar tooth' sign on imaging", "Molar tooth sign", "'molar tooth sign' on brain imaging'"], "types": ["T033"], "canonical_name": "Molar tooth sign on MRI", "definition": "An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. [HPO:probinson, PMID:14657304]"} {"concept_id": "C1865119", "aliases": [], "types": ["T033"], "canonical_name": "Progressive ventriculomegaly"} {"concept_id": "C1865124", "aliases": [], "types": ["T033"], "canonical_name": "Wafer-thin platyspondyly"} {"concept_id": "C1865128", "aliases": ["Irregular proximal humeral metaphyses"], "types": ["T033"], "canonical_name": "Proximal humeral metaphyseal irregularity", "definition": "Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder). [HPO:probinson]"} {"concept_id": "C1865131", "aliases": [], "types": ["T033"], "canonical_name": "Prominent palmar flexion creases"} {"concept_id": "C1865186", "aliases": ["Constricted, bell-shaped thorax", "Narrow, bell-shaped thorax", "Bell-shaped chest"], "types": ["T033"], "canonical_name": "Bell-shaped thorax", "definition": "The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. [HPO:probinson]"} {"concept_id": "C1865200", "aliases": ["Epiphyseal ossification delay", "Delayed opacification of the epiphyses", "Delayed epiphyseal maturation", "Delayed epiphyseal ossification"], "types": ["T033"], "canonical_name": "Delayed epiphyseal ossification"} {"concept_id": "C1865241", "aliases": ["Large sternal ossification centres"], "types": ["T033"], "canonical_name": "Large sternal ossification centers"} {"concept_id": "C1865244", "aliases": ["Small shallow orbits", "Decreased depth of eye sockets", "Shallow eye sockets", "Decreased depth of orbits"], "types": ["T033"], "canonical_name": "Shallow orbits", "definition": "Reduced depth of the orbits associated with prominent-appearing ocular globes. [HPO:probinson]"} {"concept_id": "C1865254", "aliases": ["Wide outermost end of long bone"], "types": ["T033"], "canonical_name": "Distal widening of metacarpals", "definition": "Abnormal increase in width of the distal region of the metacarpal bones. [HPO:curators]"} {"concept_id": "C1865276", "aliases": [], "types": ["T033"], "canonical_name": "Global glomerulosclerosis", "definition": "Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. [Eurenomics:ewuehl, KPMP:arosenberg]"} {"concept_id": "C1865279", "aliases": ["Foetal polyuria"], "types": ["T033"], "canonical_name": "Fetal polyuria", "definition": "Abnormally increased production of urine by the fetus resulting in polyhydramnios. [HPO:probinson, PMID:21460147]"} {"concept_id": "C1865292", "aliases": [], "types": ["T033"], "canonical_name": "Nonketotic hypoglycemia"} {"concept_id": "C1865302", "aliases": ["Cleft at the superior portion of the ear"], "types": ["T033"], "canonical_name": "Cleft at the superior portion of the pinna"} {"concept_id": "C1865304", "aliases": ["Overfolding of superior helix"], "types": ["T033"], "canonical_name": "Overfolding of the superior helices", "definition": "A condition in which the superior portion of the helix is folded over to a greater degree than normal. [HPO:probinson]"} {"concept_id": "C1865305", "aliases": ["Underdeveloped superior helices"], "types": ["T033"], "canonical_name": "Hypoplastic superior helix"} {"concept_id": "C1865313", "aliases": [], "types": ["T033"], "canonical_name": "Speech articulation difficulties", "definition": "Impairment in the physical production of speech sounds. [HPO:probinson]"} {"concept_id": "C1865318", "aliases": ["Deformity of the jaw joint", "Malformation of jaw joint", "Abnormality of the jaw joint", "Anomaly of the temporomandibular joint"], "types": ["T190"], "canonical_name": "Abnormality of the temporomandibular joint", "definition": "An anomaly of the temporomandibular joint. [HPO:probinson]"} {"concept_id": "C1865332", "aliases": ["Transient unilateral blurred vision", "Hemianopic blurring", "Hemianoptic blurring of vision"], "types": ["T033"], "canonical_name": "Transient unilateral blurring of vision", "definition": "Transient blurring of vision associated with the aura phase of migraine. [HPO:probinson]"} {"concept_id": "C1865351", "aliases": [], "types": ["T033"], "canonical_name": "Hyperintense lesions in the basal ganglia on MRI"} {"concept_id": "C1865353", "aliases": [], "types": ["T033"], "canonical_name": "Ethylmalonic aciduria", "definition": "An increased concentration of ethylmalonic acid in the urine. [HPO:probinson]"} {"concept_id": "C1865362", "aliases": ["Synostosis of shoulder joint", "Fusion of shoulder blade to long bone in upper arm", "Humeroscapular synostosis", "Humero-scapulo synostosis"], "types": ["T033"], "canonical_name": "Scapulohumeral synostosis", "definition": "Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint. [HPO:probinson]"} {"concept_id": "C1865363", "aliases": [], "types": ["T033"], "canonical_name": "Delayed ossification of pubic rami", "definition": "Delayed maturation and calcification of the rami (branches) of the pubic bone. [HPO:probinson]"} {"concept_id": "C1865377", "aliases": [], "types": ["T033"], "canonical_name": "Small lymph nodes"} {"concept_id": "C1865412", "aliases": ["Lower motor neuron disease", "Abnormal lower motor neuron morphology", "Lower motor neuron manifestations"], "types": ["T033"], "definition": "Any structural anomaly of the lower motor neuron. [HPO:probinson]", "canonical_name": "Lower motor neuron signs"} {"concept_id": "C1865416", "aliases": [], "types": ["T033"], "canonical_name": "Pallor of dorsal columns of the spinal cord", "definition": "An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination. []"} {"concept_id": "C1865417", "aliases": [], "types": ["T033"], "canonical_name": "Diffuse axonal swelling"} {"concept_id": "C1865570", "aliases": [], "types": ["T033"], "canonical_name": "Proximal radial head dislocation", "definition": "A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction. [HPO:probinson]"} {"concept_id": "C1865571", "aliases": ["Ulnar hypoplasia/aplasia", "Hypoplasia or unilateral/bilateral absence of ulna", "Absent-hypoplastic ulnae", "Absent/small ulna", "Absence/underdevelopment of inner forearm bone"], "types": ["T019"], "canonical_name": "Aplasia/Hypoplasia of the ulna", "definition": "Absence or underdevelopment of the ulna. [HPO:curators]"} {"concept_id": "C1865572", "aliases": ["Proximally placed thumbs", "Low-set thumb", "Attachment of thumb close to wrist", "Low implantation of the thumb"], "types": ["T033"], "canonical_name": "Proximal placement of thumb", "definition": "Proximal mislocalization of the thumb. [HPO:probinson, PMID:19125433]"} {"concept_id": "C1865597", "aliases": ["Decreased size of bridge of nose", "Decreased size of nasal bridge", "Hypoplastic bridge of nose", "Small bridge of nose", "Small nasal bridge"], "types": ["T033"], "canonical_name": "Hypoplastic nasal bridge"} {"concept_id": "C1865598", "aliases": ["Thick alveolar ridges", "Hyperplasia of alveolar process of jaw", "Overgrowth of alveolar ridge", "Enlarged alveolar ridge", "Increased size of gum ridge", "Thickened alveolar ridges", "Increased size of alveolar ridge", "Overgrowth of gum ridge", "Hyperplasia of alveolar ridge", "Alveolar ridge excess"], "types": ["T033"], "canonical_name": "Alveolar ridge overgrowth", "definition": "Increased width of the alveolar ridges. [PMID:19125428]"} {"concept_id": "C1865702", "aliases": [], "types": ["T190"], "canonical_name": "Joint contracture of the 5th finger", "definition": "Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. [HPO:sdoelken]"} {"concept_id": "C1865833", "aliases": ["Flared, irregular rib ends"], "types": ["T033"], "canonical_name": "Flared, irregular rib ends"} {"concept_id": "C1865841", "aliases": ["Flared iliac wings"], "types": ["T033"], "canonical_name": "Flared iliac wing", "definition": "Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. [HPO:probinson, PMID:28744080]"} {"concept_id": "C1865847", "aliases": ["Curved ulna", "Curving of inner forearm bone", "Bowed ulna"], "types": ["T033"], "canonical_name": "Ulnar bowing", "definition": "Bending of the diaphysis (shaft) of the ulna. [HPO:probinson]"} {"concept_id": "C1865866", "aliases": ["Congenital sensorineural hearing loss", "Congenital perceptive deafness", "Congenital neurosensory deafness", "Congenital sensorineural hearing impairment", "Hearing loss, congenital sensorineural"], "types": ["T047"], "definition": "A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. [HPO:probinson]", "canonical_name": "Congenital sensorineural deafness"} {"concept_id": "C1865877", "aliases": ["Multiple renal cortical microcysts", "Multiple small renal cortical cysts", "Cortical microcysts"], "types": ["T033"], "canonical_name": "Renal cortical microcysts", "definition": "Cysts of microscopic size confined to the cortex of the kidney. [Eurenomics:ewuehl]"} {"concept_id": "C1865880", "aliases": [], "types": ["T033"], "canonical_name": "Hyperkalemic metabolic acidosis"} {"concept_id": "C1865903", "aliases": ["Long tract signs"], "types": ["T033"], "canonical_name": "Long-tract signs"} {"concept_id": "C1865916", "aliases": ["Drooping of both upper eyelids"], "types": ["T047"], "canonical_name": "Bilateral ptosis"} {"concept_id": "C1865918", "aliases": ["Restrictive ophthalmoplegia"], "types": ["T033"], "canonical_name": "Restrictive external ophthalmoplegia", "definition": "Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. [HPO:probinson]"} {"concept_id": "C1865992", "aliases": ["Short big toe", "Hypoplastic hallux", "Short halluces", "Small hallux", "Hypoplastic big toes"], "types": ["T033"], "canonical_name": "Short hallux", "definition": "Underdevelopment (hypoplasia) of the big toe. [HPO:probinson]"} {"concept_id": "C1866000", "aliases": [], "types": ["T033"], "canonical_name": "Prominent interdigital folds"} {"concept_id": "C1866010", "aliases": ["Muscle weakness, proximal, lower limbs"], "types": ["T033"], "canonical_name": "Proximal muscle weakness in lower limbs", "definition": "A lack of strength of the proximal muscles of the legs. [HPO:probinson]"} {"concept_id": "C1866012", "aliases": [], "types": ["T033"], "canonical_name": "Proximal muscle weakness in upper limbs", "definition": "A lack of strength of the proximal muscles of the arms. [HPO:probinson]"} {"concept_id": "C1866013", "aliases": ["Proximal upper limb muscle atrophy", "Proximal muscle atrophy in upper limbs"], "types": ["T033"], "canonical_name": "Proximal upper limb amyotrophy", "definition": "Muscular atrophy affecting proximally located muscles of the arms. [HPO:curators]"} {"concept_id": "C1866021", "aliases": [], "types": ["T033"], "canonical_name": "Increased connective tissue", "definition": "The presence of an abnormally increased amount of connective tissue. [HPO:curators]"} {"concept_id": "C1866031", "aliases": [], "types": ["T033"], "canonical_name": "Linear arrays of macular hyperkeratoses in flexural areas"} {"concept_id": "C1866127", "aliases": ["Trigeminal anaesthesia"], "types": ["T033"], "canonical_name": "Trigeminal anesthesia", "definition": "Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth. [https://orcid.org/0000-0002-3194-8625, PMID:10653422, PMID:2256843]"} {"concept_id": "C1866129", "aliases": ["Cerebellar abnormalities", "Abnormal cerebellum morphology", "Cerebellar anomaly", "Cerebellar abnormality"], "types": ["T190"], "definition": "Any structural abnormality of the cerebellum. [HPO:probinson, PMID:27160001]", "canonical_name": "Abnormality of the cerebellum"} {"concept_id": "C1866130", "aliases": [], "types": ["T047"], "definition": "Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis. [https://orcid.org/0000-0002-3194-8625, PMID:22451504]", "canonical_name": "Rhombencephalosynapsis"} {"concept_id": "C1866131", "aliases": [], "types": ["T033"], "canonical_name": "Fusion of the cerebellar hemispheres"} {"concept_id": "C1866134", "aliases": ["Large anterior fontanelle", "Large open anterior fontanelle", "Large anterior fontanels", "Wider-than-typical soft spot of skull", "Large anterior fontanel", "Large open anterior fontanel", "Wide anterior fontanelle", "Wide open anterior fontanelle"], "types": ["T033"], "canonical_name": "Wide anterior fontanel", "definition": "Enlargement of the anterior fontanelle with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C1866141", "aliases": ["Inability to walk on heels", "Foot dorsiflexor weakness", "Footdrop", "Inability to heel walk", "Foot drop"], "types": ["T033"], "definition": "Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. [HPO:probinson]", "canonical_name": "Foot extensor weakness"} {"concept_id": "C1866180", "aliases": [], "types": ["T019"], "canonical_name": "Horizontal pendular nystagmus", "definition": "Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. [HPO:probinson]"} {"concept_id": "C1866195", "aliases": ["Downturned oral commisures", "Downturned corners of the mouth", "Downturned mouth", "Downturned corners of mouth"], "types": ["T190"], "canonical_name": "Downturned corners of mouth", "definition": "A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. [HPO:probinson, PMID:19125428]"} {"concept_id": "C1866206", "aliases": [], "types": ["T033"], "canonical_name": "Dysplastic pulmonary valve", "definition": "A congenital malformation of the pulmonary valve characterized by leaflet deformation. [PMID:7704986]"} {"concept_id": "C1866207", "aliases": [], "types": ["T033"], "canonical_name": "Dysplastic aortic valve", "definition": "A congenital malformation of the aortic valve characterized by leaflet deformation. [PMID:21349746]"} {"concept_id": "C1866210", "aliases": [], "types": ["T033"], "canonical_name": "Highly variable phenotype, even within families"} {"concept_id": "C1866227", "aliases": [], "types": ["T033"], "canonical_name": "Somatic mosaicism", "definition": "The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. [HPO:probinson, PMID:12360233]"} {"concept_id": "C1866231", "aliases": ["Big cheeks", "Full cheeks", "Large cheeks", "Apple cheeks", "Increased size of cheeks"], "types": ["T033"], "canonical_name": "Full cheeks", "definition": "Increased prominence or roundness of soft tissues between zygomata and mandible. [DDD:awilkie]"} {"concept_id": "C1866234", "aliases": [], "types": ["T033"], "canonical_name": "Protruding lower lip"} {"concept_id": "C1866239", "aliases": [], "types": ["T033"], "canonical_name": "Mesomelic/rhizomelic limb shortening"} {"concept_id": "C1866241", "aliases": ["Wide foot", "Broad feet"], "types": ["T033"], "definition": "A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. [PMID:19125433]", "canonical_name": "Broad foot"} {"concept_id": "C1866244", "aliases": [], "types": ["T033"], "canonical_name": "Hypopigmented streaks"} {"concept_id": "C1866245", "aliases": [], "types": ["T033"], "canonical_name": "Hyperpigmented streaks"} {"concept_id": "C1866246", "aliases": ["Sparse scalp hair at front of head", "Thin scalp hair at front of head"], "types": ["T033"], "canonical_name": "Sparse anterior scalp hair", "definition": "Decreased number of head hairs per unit area on the anterior region of the scalp. [HPO:probinson]"} {"concept_id": "C1866284", "aliases": ["Progressive degeneration of movement"], "types": ["T033"], "canonical_name": "Motor deterioration", "definition": "Loss of previously present motor (i.e., movement) abilities. [HPO:probinson]"} {"concept_id": "C1866339", "aliases": ["Polydactyly affecting the hallux", "Partial/complete duplication of the phalanges of the big toe"], "types": ["T047"], "canonical_name": "Preaxial hallucal polydactyly"} {"concept_id": "C1866487", "aliases": ["Deep smile lines", "Prominent laugh lines", "Deep nasolabial fold", "Deep laugh lines", "Deep nasolabial crease", "Prominent nasolabial groove", "Nasolabial crease, prominent", "Deep nasolabial groove", "Prominent smile lines"], "types": ["T033"], "canonical_name": "Prominent nasolabial fold", "definition": "Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). [PMID:19125428]"} {"concept_id": "C1866496", "aliases": [], "types": ["T033"], "canonical_name": "Renal juxtaglomerular cell hypertrophy/hyperplasia", "definition": "Increased number and size of the juxtaglomerular cells. [Eurenomics:ewuehl]"} {"concept_id": "C1866498", "aliases": ["High urine prostaglandin levels"], "types": ["T033"], "canonical_name": "Hyperprostaglandinuria", "definition": "An increased concentration of prostaglandin in the urine. [HPO:probinson]"} {"concept_id": "C1866500", "aliases": ["Low-to-normal BP", "Low-to-normal blood pressure"], "types": ["T033"], "canonical_name": "Low-to-normal blood pressure"} {"concept_id": "C1866510", "aliases": ["Abnormality of colour of lateral incisor", "Abnormality of color of lateral incisor", "Abnormality of shade of lateral incisor", "Discoloured lateral incisors"], "types": ["T033"], "canonical_name": "Discolored lateral incisors", "definition": "The presence of discolored lateral incisors. [HPO:ibailleulforestier]"} {"concept_id": "C1866555", "aliases": ["Tympanic nerve tumour", "Tympanic nerve tumors", "Tympanic nerve tumours", "Tympanic nerve tumor"], "types": ["T191"], "canonical_name": "Glomus tympanicum paraganglioma"} {"concept_id": "C1866637", "aliases": ["Basal lamina 'onion bulb' formations on nerve biopsy"], "types": ["T033"], "canonical_name": "Basal lamina onion bulb formation", "definition": "A type of onion bulb formation prominently affecting the area of the basal lamina. [HPO:probinson]"} {"concept_id": "C1866657", "aliases": [], "types": ["T033"], "canonical_name": "Congenital stapes ankylosis", "definition": "A form of stapes ankylosis with congenital onset. [HPO:probinson]"} {"concept_id": "C1866675", "aliases": [], "types": ["T033"], "canonical_name": "Biconvex vertebral bodies", "definition": "Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates. [HPO:probinson]"} {"concept_id": "C1866687", "aliases": ["Bucket handle fracture", "Metaphyseal corner fracture"], "types": ["T037"], "canonical_name": "Corner fracture of metaphysis", "definition": "Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias. [PMID:15206413, PMID:20544318]"} {"concept_id": "C1866689", "aliases": ["Small sacroiliac notch", "Shortened sacroiliac notches", "Short sacroiliac notch"], "types": ["T033"], "canonical_name": "Short greater sciatic notch", "definition": "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. [HPO:probinson]"} {"concept_id": "C1866700", "aliases": [], "types": ["T033"], "canonical_name": "Irregular, rachitic-like metaphyses"} {"concept_id": "C1866710", "aliases": ["Absent pubic ossification in infancy"], "types": ["T033"], "canonical_name": "Delayed pubic bone ossification", "definition": "Delayed maturation and calcification of the pubic bone. [HPO:probinson]"} {"concept_id": "C1866729", "aliases": [], "types": ["T033"], "canonical_name": "Medial widening of clavicles"} {"concept_id": "C1866730", "aliases": ["Rhizomelic short stature", "Rhizomelic dwarfism", "Disproportionately short upper portion of limb", "Short stature, rhizomelic", "Rhizomelic limb shortening", "Rhizomelic short limbs", "Rhizomelic shortening", "Rhizomelia"], "types": ["T019"], "definition": "Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). [HPO:probinson]", "canonical_name": "Symmetrical rhizomelic limb shortening"} {"concept_id": "C1866731", "aliases": ["Pear-shaped vertebral bodies"], "types": ["T033"], "canonical_name": "Pear-shaped vertebrae", "definition": "Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. [HPO:probinson, PMID:16167086]"} {"concept_id": "C1866732", "aliases": [], "types": ["T033"], "canonical_name": "Increased anterior vertebral height"} {"concept_id": "C1866737", "aliases": [], "types": ["T033"], "canonical_name": "Lateral femoral bowing", "definition": "A lateral bending or abnormal curvature of the femur. [HPO:probinson]"} {"concept_id": "C1866751", "aliases": ["Degeneration of the spinocerebellar tracts", "Spinocerebellar tract degeneration"], "types": ["T047"], "canonical_name": "Spinocerebellar degeneration"} {"concept_id": "C1866753", "aliases": ["Abnormal horizontal ocular pursuit", "Impaired horizontal visual pursuit"], "types": ["T033"], "canonical_name": "Impaired horizontal smooth pursuit", "definition": "An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. [HPO:probinson]"} {"concept_id": "C1866772", "aliases": ["Nerve conduction abnormalities", "Abnormal nerve conduction", "Abnormal nerve conduction velocity"], "types": ["T033"], "canonical_name": "Abnormal nerve conduction velocities"} {"concept_id": "C1866774", "aliases": [], "types": ["T047"], "canonical_name": "Segmental spinal muscular atrophy"} {"concept_id": "C1866805", "aliases": ["Narrow palpebral fissure, unilateral"], "types": ["T033"], "canonical_name": "Unilateral narrow palpebral fissure", "definition": "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only. [HPO:probinson]"} {"concept_id": "C1866806", "aliases": ["Dropping of one upper eyelid"], "types": ["T033"], "canonical_name": "Unilateral ptosis", "definition": "A unilateral form of ptosis. [HPO:probinson]"} {"concept_id": "C1866862", "aliases": [], "types": ["T033"], "canonical_name": "Highly variable severity"} {"concept_id": "C1866863", "aliases": [], "types": ["T033"], "canonical_name": "Lower limb atrophy"} {"concept_id": "C1866934", "aliases": ["Diminished or absent deep tendon reflexes", "Hypoactive to absent deep tendon reflexes", "Absent or decreased deep tendon reflexes", "Weak or absent deep tendon reflexes", "Decreased to absent deep tendon reflexes", "Diminished or absent tendon reflexes", "Impaired tendon reflexes", "Reduced/absent deep tendon reflexes", "Decreased/absent deep tendon reflexes"], "types": ["T033"], "canonical_name": "Reduced tendon reflexes", "definition": "Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. [HPO:probinson, PMID:20941667]"} {"concept_id": "C1866959", "aliases": [], "types": ["T190"], "canonical_name": "Bridged sella turcica"} {"concept_id": "C1866986", "aliases": [], "types": ["T033"], "canonical_name": "Social and occupational deterioration"} {"concept_id": "C1867003", "aliases": [], "types": ["T033"], "canonical_name": "Axillary apocrine gland hypoplasia", "definition": "Developmental hypoplasia of the apocrine sweat glands in the region of the axilla. [HPO:probinson]"} {"concept_id": "C1867006", "aliases": ["Neck flexion contracture", "Restricted neck mobility due to contractures", "Restricted neck movement due to contractures"], "types": ["T033"], "canonical_name": "Restricted neck movement due to contractures"} {"concept_id": "C1867030", "aliases": ["Enlarged tear gland"], "types": ["T033"], "canonical_name": "Enlarged lacrimal glands", "definition": "Abnormally big lacrimal glands. [HPO:probinson]"} {"concept_id": "C1867060", "aliases": ["Absent lacrimal openings", "Lacrimal puncta aplasia", "Lacrimal punctum, absence", "Absent lacrimal puncta", "Absent lacrimal gland puncta", "Absent lacrimal punctum"], "types": ["T047"], "definition": "No identifiable superior and/or inferior lacrimal punctum. [PMID:19125427]", "canonical_name": "Aplasia of lacrimal puncta"} {"concept_id": "C1867103", "aliases": ["Limited extension at elbows", "Elbow limited extension", "Limited forearm extension", "Limited elbow extension", "Restricted elbow extension", "Limitation of elbow extension", "Decreased elbow extension"], "types": ["T033"], "canonical_name": "Limited elbow extension", "definition": "Limited ability to straighten the arm at the elbow joint. [HPO:probinson]"} {"concept_id": "C1867114", "aliases": [], "types": ["T033"], "canonical_name": "Craniofacial disproportion"} {"concept_id": "C1867131", "aliases": ["Abnormally broad great toes", "Wide big toe", "Broad big toe", "Broad great toes", "Broad great toe", "Broad halluces"], "types": ["T033"], "canonical_name": "Broad hallux", "definition": "Visible increase in width of the hallux without an increase in the dorso-ventral dimension. [PMID:19125433]"} {"concept_id": "C1867132", "aliases": [], "types": ["T033"], "canonical_name": "Plantar crease between first and second toes", "definition": "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe. [HPO:probinson]"} {"concept_id": "C1867138", "aliases": ["Postural tremor of arms"], "types": ["T033"], "canonical_name": "Upper limb postural tremor", "definition": "A type of tremors that is triggered by holding an arm in a fixed position. [HPO:probinson]"} {"concept_id": "C1867289", "aliases": [], "types": ["T033"], "canonical_name": "Retinal calcification", "definition": "Deposition of calcium salts in the retina. [HPO:probinson]"} {"concept_id": "C1867398", "aliases": [], "types": ["T047"], "definition": "A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction. [HPO:probinson]", "canonical_name": "Posterior radial head dislocation"} {"concept_id": "C1867421", "aliases": [], "types": ["T033"], "canonical_name": "Elevated right atrial pressure", "definition": "An abnormal increase in magnitude of the pressure in the right atrium. [PMID:25211049]"} {"concept_id": "C1867423", "aliases": [], "types": ["T033"], "canonical_name": "Increased pulmonary vascular resistance", "definition": "Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units. []"} {"concept_id": "C1867424", "aliases": [], "types": ["T033"], "canonical_name": "Pulmonary artery vasoconstriction"} {"concept_id": "C1867439", "aliases": ["Webbed elbow", "Pterygium cubitale"], "types": ["T047"], "definition": "Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. [HPO:probinson]", "canonical_name": "Antecubital pterygium"} {"concept_id": "C1867446", "aliases": [], "types": ["T033"], "canonical_name": "Bulging forehead"} {"concept_id": "C1867448", "aliases": [], "types": ["T033"], "canonical_name": "Multiple pterygia"} {"concept_id": "C1867487", "aliases": ["Short-limb dwarfism identifiable during childhood"], "types": ["T033"], "canonical_name": "Childhood onset short-limb short stature"} {"concept_id": "C1867494", "aliases": ["Fragmented, irregular end part of bone"], "types": ["T033"], "canonical_name": "Fragmented, irregular epiphyses"} {"concept_id": "C1867616", "aliases": ["Epibulbar dermoid", "Epibulbar dermoids"], "types": ["T191"], "canonical_name": "Limbal dermoid", "definition": "A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). [HPO:probinson]"} {"concept_id": "C1867617", "aliases": ["Thick skin of soles"], "types": ["T033"], "canonical_name": "Hypertrophy of skin of soles"} {"concept_id": "C1867638", "aliases": [], "types": ["T033"], "canonical_name": "Warfarin-induced skin necrosis"} {"concept_id": "C1867743", "aliases": ["Premature coronary artery disease"], "types": ["T047"], "canonical_name": "Premature coronary artery atherosclerosis", "definition": "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. [PMID:28070240]"} {"concept_id": "C1867776", "aliases": [], "types": ["T033"], "canonical_name": "Anterior sacral meningocele"} {"concept_id": "C1867864", "aliases": ["Fine motor skill dysfunction", "Fine motor impairment", "Fine motor disability", "Poor fine motor coordination"], "types": ["T033"], "definition": "An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. []", "canonical_name": "Impaired fine motor skills"} {"concept_id": "C1867873", "aliases": ["Failure to thrive in first year of life", "Weight faltering in infancy", "Faltering weight in infancy"], "types": ["T033"], "canonical_name": "Failure to thrive in infancy"} {"concept_id": "C1867927", "aliases": [], "types": ["T033"], "canonical_name": "Postaxial oligodactyly"} {"concept_id": "C1867928", "aliases": ["Partial-complete absence of 5th digital bone"], "types": ["T033"], "canonical_name": "Partial-complete absence of 5th phalanges"} {"concept_id": "C1867929", "aliases": ["Absent 5th long bone of hand", "Absent 5th metacarpal"], "types": ["T033"], "canonical_name": "Aplasia of the 5th metacarpal", "definition": "Absence of the fifth long bone of the hand. [HPO:curators]"} {"concept_id": "C1867930", "aliases": ["Lunotriquetral synostosis"], "types": ["T019"], "canonical_name": "Lunate-triquetral fusion", "definition": "Osseous fusion of the lunate and triquetrum. [PMID:23853014]"} {"concept_id": "C1867932", "aliases": ["Aplasia of the fifth metatarsal bone", "Absent 5th metatarsals", "Absent 5th long bone of foot"], "types": ["T033"], "canonical_name": "Absent fifth metatarsal", "definition": "A developmental abnormality characterized by the absence of the fifth metatarsal bone. [HPO:probinson]"} {"concept_id": "C1867955", "aliases": [], "types": ["T033"], "canonical_name": "Increased incidence of hepatocellular carcinoma"} {"concept_id": "C1867971", "aliases": [], "types": ["T033"], "canonical_name": "Acute episodes of neuropathic symptoms"} {"concept_id": "C1868001", "aliases": ["Proximal polyposis of the stomach", "Gastric polyposis", "Fundic gland polyps"], "types": ["T191"], "definition": "Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps. [PMID:20567540]", "canonical_name": "Fundic gland polyposis"} {"concept_id": "C1868007", "aliases": ["Precocious puberty with Sertoli cell tumour"], "types": ["T033"], "canonical_name": "Precocious puberty with Sertoli cell tumor"} {"concept_id": "C1868071", "aliases": ["Multiple colonic adenomatous polyps", "Multiple adenomatous colon polyps"], "types": ["T033"], "canonical_name": "Adenomatous colonic polyposis", "definition": "Presence of multiple adenomatous polyps in the colon. [HPO:probinson]"} {"concept_id": "C1868072", "aliases": [], "types": ["T191"], "canonical_name": "Small intestine carcinoid"} {"concept_id": "C1868085", "aliases": ["Excessive bone growth of the skull and face", "Hyperostosis of craniofacial bones", "Increased ossification of craniofacial bones"], "types": ["T033"], "canonical_name": "Craniofacial hyperostosis", "definition": "Excessive growth of the craniofacial bones. [HPO:probinson]"} {"concept_id": "C1868158", "aliases": ["Pectoralis minor aplasia"], "types": ["T033"], "canonical_name": "Absence of pectoralis minor muscle", "definition": "Aplasia (congenital absence) of the pectoralis minor. [HPO:probinson]"} {"concept_id": "C1868164", "aliases": [], "types": ["T033"], "canonical_name": "Unilateral brachydactyly"} {"concept_id": "C1868167", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplasia of serratus anterior muscle", "definition": "Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula. [HPO:curators]"} {"concept_id": "C1868170", "aliases": ["Deltoid muscle hypoplasia"], "types": ["T033"], "canonical_name": "Hypoplasia of deltoid muscle", "definition": "Underdevelopment of the deltoid muscle. [Neuromics:vstraub]"} {"concept_id": "C1868252", "aliases": [], "types": ["T033"], "canonical_name": "Post-transfusion thrombocytopenia", "definition": "Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages. [DDD:kfreeson]"} {"concept_id": "C1868263", "aliases": [], "types": ["T047"], "definition": "Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation. [HPO:probinson]", "canonical_name": "Spontaneous platelet aggregation"} {"concept_id": "C1868393", "aliases": ["Increased urinary epinephrine"], "types": ["T033"], "canonical_name": "Elevated urinary epinephrine", "definition": "An increased concentration of adrenaline in the urine. [HPO:probinson]"} {"concept_id": "C1868394", "aliases": ["Elevated calcitonin"], "types": ["T033"], "canonical_name": "Elevated calcitonin"} {"concept_id": "C1868496", "aliases": [], "types": ["T047"], "canonical_name": "Crusting erythematous dermatitis"} {"concept_id": "C1868514", "aliases": [], "types": ["T033"], "canonical_name": "Diffuse leukoencephalopathy"} {"concept_id": "C1868524", "aliases": ["Impotence due to autonomic dysfunction"], "types": ["T033"], "canonical_name": "Autonomic erectile dysfunction", "definition": "Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system. [HPO:probinson]"} {"concept_id": "C1868527", "aliases": [], "types": ["T033"], "canonical_name": "Decreased sweating due to autonomic dysfunction"} {"concept_id": "C1868528", "aliases": [], "types": ["T033"], "canonical_name": "Orthostatic hypotension due to autonomic dysfunction"} {"concept_id": "C1868549", "aliases": ["Marked delay in bone age", "Marked retardation in skeletal maturation", "Markedly retarded bone age"], "types": ["T033"], "canonical_name": "Marked delay in bone age"} {"concept_id": "C1868554", "aliases": ["irregular, dense end plate"], "types": ["T033"], "canonical_name": "Irregular sclerotic endplates"} {"concept_id": "C1868556", "aliases": ["Ovoid thoracic and lumbar vertebrae"], "types": ["T033"], "canonical_name": "Ovoid thoracolumbar vertebrae"} {"concept_id": "C1868571", "aliases": ["Broad, arched eyebrows", "High, rounded eyebrows", "Highly arched eyebrow", "High arched eyebrows", "High-arched eyebrows", "Thick, flared eyebrows", "Arched eyebrows"], "types": ["T033"], "canonical_name": "Highly arched eyebrow", "definition": "Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. [PMID:19125427]"} {"concept_id": "C1868573", "aliases": ["Fused end and middle bones of pinky finger", "Symphalangism of the distal and middle phalanges of the 5th finger", "Fused end and middle bones of pinkie finger", "Symphalangism of the terminal and middle phalanges of the 5th finger", "Fifth finger distal interphalangeal joint symphalangism", "Fused end and middle bones of little finger"], "types": ["T033"], "canonical_name": "Distal/middle symphalangism of 5th finger", "definition": "Fusion of the terminal/distal and middle phalanges of the 5th finger. [HPO:curators]"} {"concept_id": "C1868577", "aliases": ["Hypoplastic or absent patella", "Aplastic or hypoplastic patellae", "Absent or hypoplastic patellae", "Absent/small kneecap", "Patellar aplasia/hypoplasia", "Aplasia/Hypoplasia of the patella", "Absent/hypoplastic patella", "Small to absent patellae"], "types": ["T019"], "definition": "Absence or underdevelopment of the patella. [HPO:curators]", "canonical_name": "Absent/underdeveloped kneecap"} {"concept_id": "C1868578", "aliases": ["Absent kneecap", "Patellar aplasia", "Absent patellae", "Aplastic patellae", "Absent patellas"], "types": ["T019"], "definition": "Absence of the patella. [HPO:probinson]", "canonical_name": "Absent patella"} {"concept_id": "C1868598", "aliases": [], "types": ["T019"], "definition": "A developmental defect with manifestation of variable intramembranous ossification defects of the parietal bones, which is asymptomatic, symptomatic or associated with other pathologies. A congenital disorder caused by insufficient ossification around the parietal notch. In most cases this results from heterozygous loss of function mutations in human homeobox genes, MSX2 (5q35.2) and ALX4 (11p11.2), which encode transcription factors involved in skeletal development. Transmission is autosomal dominant with high but incomplete penetrance.", "canonical_name": "Cranium bifidum occultum"} {"concept_id": "C1868623", "aliases": ["Grip myotonia"], "types": ["T033"], "definition": "Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. [PMID:22987687, UToronto:htrang]", "canonical_name": "Handgrip myotonia"} {"concept_id": "C1868720", "aliases": [], "types": ["T047"], "definition": "A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches.", "canonical_name": "Periventricular nodular heterotopia"} {"concept_id": "C1868737", "aliases": [], "types": ["T047"], "canonical_name": "Vertebral artery hypoplasia", "definition": "Underdevelopment of the vertebral artery. []"} {"concept_id": "C1868836", "aliases": [], "types": ["T191"], "canonical_name": "Tracheal papilloma", "definition": "A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea. [PMID:32309132]"} {"concept_id": "C1868850", "aliases": [], "types": ["T047"], "canonical_name": "Anal erosion"} {"concept_id": "C1868854", "aliases": ["Prepenile scrotum"], "types": ["T019"], "definition": "A rare congenital abnormality characterized by the partial or complete transposition of the penis and scrotum. In cases of complete penoscrotal transposition, the scrotum is positioned anteriorly and above the penis. It may be associated with other congenital abnormalities.", "canonical_name": "Penoscrotal transposition"} {"concept_id": "C1868945", "aliases": [], "types": ["T047"], "canonical_name": "Polyglobulia"} {"concept_id": "C1868987", "aliases": ["Eosinophilic dermal infiltration"], "types": ["T047"], "definition": "Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils. [PMID:23730155, PMID:6724778]", "canonical_name": "Eosinophilic dermatitis"} {"concept_id": "C1879312", "aliases": ["Agyria"], "types": ["T019"], "definition": "A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm. [COST:neuromig]", "canonical_name": "Agyria diffuse"} {"concept_id": "C1879362", "aliases": ["Tyrosinemia", "Increased tyrosine in blood"], "types": ["T047"], "definition": "An increased concentration of tyrosine in the blood. [HPO:probinson]", "canonical_name": "Hypertyrosinemia"} {"concept_id": "C1881170", "aliases": [], "types": ["T047"], "definition": "Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands. [HPO:probinson, PMID:15763524]", "canonical_name": "Inappropriate sinus tachycardia"} {"concept_id": "C1882229", "aliases": [], "types": ["T191"], "definition": "A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.", "canonical_name": "Ovarian thecoma"} {"concept_id": "C1954880", "aliases": [], "types": ["T025"], "definition": "Nuclear or cytoplasmic aggregates of substances in red blood cells. []", "canonical_name": "Erythrocyte inclusion bodies"} {"concept_id": "C1955781", "aliases": ["Septic pulmonary embolism"], "types": ["T046"], "definition": "Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations. [ORCID:0000-0002-4095-8489, PMID:12244005]", "canonical_name": "Septic pulmonary emboli"} {"concept_id": "C1956147", "aliases": [], "types": ["T019"], "definition": "Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements. [PMID:8779318]", "canonical_name": "Microlissencephaly"} {"concept_id": "C1956261", "aliases": ["Developmental Venous Anomaly"], "types": ["T019"], "definition": "A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. [HPO:probinson, PMID:8770251]", "canonical_name": "Cerebral venous angioma"} {"concept_id": "C1956346", "aliases": [], "types": ["T047"], "definition": "Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.", "canonical_name": "Coronary disease"} {"concept_id": "C1956410", "aliases": [], "types": ["T019"], "definition": "A subtype with ventricular septal defect clearly away from the semilunar valves of the AORTA and the PULMONARY ARTERY.", "canonical_name": "Double outlet right ventricle, noncommitted ventricular septal defect"} {"concept_id": "C1956413", "aliases": ["Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis", "DORV with subpulmonary VSD without pulmonary stenosis"], "types": ["T019"], "definition": "A subtype with pulmonary ventricular septal defect.", "canonical_name": "Taussig-Bing anomaly"} {"concept_id": "C1959620", "aliases": [], "types": ["T047"], "definition": "An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.", "canonical_name": "Dihydropyrimidine dehydrogenase deficiency"} {"concept_id": "C1960469", "aliases": [], "types": ["T047"], "definition": "Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. [PMID:16670098, PMID:25443708]", "canonical_name": "Left ventricular noncompaction"} {"concept_id": "C1960546", "aliases": [], "types": ["T191"], "definition": "A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber. [HPO:probinson, PMID:7477198]", "canonical_name": "Cardiac myxoma"} {"concept_id": "C1960561", "aliases": [], "types": ["T047"], "definition": "Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg. [PMID:11784827, PMID:4031909]", "canonical_name": "Hemidystonia"} {"concept_id": "C1960822", "aliases": [], "types": ["T047"], "definition": "An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio. [ORCID:0000-0003-0986-4123]", "canonical_name": "Convergence excess esotropia"} {"concept_id": "C1961099", "aliases": [], "types": ["T191"], "definition": "A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common.", "canonical_name": "T-cell acute lymphoblastic leukemias"} {"concept_id": "C1963909", "aliases": ["IgD deficiency", "Decreased IgD", "Decreased IgD in blood"], "types": ["T033"], "canonical_name": "Decreased circulating IgD", "definition": "An abnormally decreased level of immunoglobulin D (IgD) in blood. []"} {"concept_id": "C1963933", "aliases": [], "types": ["T048"], "canonical_name": "Punding", "definition": "Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects. [ICM:PCaroppo, PMID:15077237, PMID:25452726]"} {"concept_id": "C1963946", "aliases": ["Laryngeal dystonia"], "types": ["T047"], "definition": "A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. [HPO:probinson]", "canonical_name": "Spasmodic dysphonia"} {"concept_id": "C1963964", "aliases": [], "types": ["T184"], "canonical_name": "Periungual erythema", "definition": "Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail. []"} {"concept_id": "C1968564", "aliases": [], "types": ["T033"], "canonical_name": "Defective DNA repair after ultraviolet radiation damage"} {"concept_id": "C1968565", "aliases": ["Numerous pigmented freckles"], "types": ["T033"], "canonical_name": "Numerous pigmented freckles"} {"concept_id": "C1968574", "aliases": ["Underdeveloped tear duct"], "types": ["T033"], "canonical_name": "Hypoplastic lacrimal duct"} {"concept_id": "C1968577", "aliases": [], "types": ["T033"], "canonical_name": "Progressive calcification of costochondral cartilage"} {"concept_id": "C1968592", "aliases": ["Carpal calcifications", "Abnormal calcification of the wrist bones"], "types": ["T033"], "canonical_name": "Abnormal calcification of the carpal bones"} {"concept_id": "C1968605", "aliases": [], "types": ["T033"], "canonical_name": "Limited elbow flexion/extension"} {"concept_id": "C1968606", "aliases": [], "types": ["T033"], "canonical_name": "Limited knee flexion/extension", "definition": "A limited ability of the knee joint to perform extension and flexion. [HPO:curators]"} {"concept_id": "C1968607", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic distal humeri", "definition": "Underdevelopment of the distal portion of the humerus. [HPO:probinson]"} {"concept_id": "C1968610", "aliases": ["Anterior/lateral radial head dislocation"], "types": ["T033"], "canonical_name": "Anterolateral radial head dislocation", "definition": "A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction. [HPO:probinson]"} {"concept_id": "C1968611", "aliases": ["Club-shaped innermost end of thighbone"], "types": ["T033"], "canonical_name": "Club-shaped proximal femur", "definition": "An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. [HPO:probinson]"} {"concept_id": "C1968618", "aliases": ["Disintegration of the tubular basement membrane"], "types": ["T033"], "canonical_name": "Tubular basement membrane disintegration", "definition": "DIsruption and breaking up of the basement membrane of the tubules of the kidney. [HPO:probinson]"} {"concept_id": "C1968619", "aliases": ["Renal corticomedullary cystic disease", "Corticomedullary renal cysts"], "types": ["T047"], "canonical_name": "Renal corticomedullary cysts", "definition": "The presence of multiple cysts at the border between the renal cortex and medulla. [HPO:probinson]"} {"concept_id": "C1968633", "aliases": [], "types": ["T033"], "canonical_name": "Intimal thickening in the coronary arteries"} {"concept_id": "C1968686", "aliases": ["Absent ossification of femoral capital epiphyses"], "types": ["T033"], "canonical_name": "Absent ossification of capital femoral epiphysis", "definition": "Lack of ossification of the proximal epiphysis of the femur. [HPO:probinson]"} {"concept_id": "C1968706", "aliases": ["Rudimentary fallopian tubes", "Underdeveloped fallopian tube"], "types": ["T033"], "canonical_name": "Hypoplasia of the fallopian tube", "definition": "Developmental hypoplasia of the fallopian tube. [HPO:probinson]"} {"concept_id": "C1968729", "aliases": [], "types": ["T033"], "canonical_name": "Increased muscle glycogen content", "definition": "An increased amount of glycogen in muscle tissue. [HPO:probinson]"} {"concept_id": "C1968790", "aliases": ["Axon degeneration and regeneration"], "types": ["T033"], "canonical_name": "Axonal degeneration/regeneration", "definition": "A pattern of simultaneous degeneration and regeneration of axons (see comment). [HPO:probinson]"} {"concept_id": "C1968811", "aliases": ["Hyperplastic antitragus", "Enlarged antitragus", "Hypertrophic antitragus"], "types": ["T033"], "canonical_name": "Prominent antitragus", "definition": "Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. [HPO:curators, PMID:19152421]"} {"concept_id": "C1968813", "aliases": [], "types": ["T190"], "canonical_name": "Slender radius"} {"concept_id": "C1968814", "aliases": [], "types": ["T033"], "canonical_name": "Slender ulna", "definition": "Reduction in diameter of the ulna. [HPO:probinson]"} {"concept_id": "C1968816", "aliases": ["Broad fingertip", "Broad fingertips"], "types": ["T033"], "canonical_name": "Broad fingertip", "definition": "Increased width of the distal segment of a finger. [PMID:19125433]"} {"concept_id": "C1968851", "aliases": [], "types": ["T033"], "canonical_name": "Pigmented micronodular adrenocortical disease"} {"concept_id": "C1968852", "aliases": [], "types": ["T033"], "canonical_name": "ACTH-independent hypercortisolemia"} {"concept_id": "C1968855", "aliases": [], "types": ["T033"], "canonical_name": "Paradoxical increased cortisol secretion on dexamethasone suppression test"} {"concept_id": "C1968899", "aliases": [], "types": ["T033"], "canonical_name": "Decreased renal tubular phosphate excretion"} {"concept_id": "C1968901", "aliases": [], "types": ["T033"], "canonical_name": "Conjunctival whitish salt-like deposits", "definition": "The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis. [HPO:probinson]"} {"concept_id": "C1968910", "aliases": ["Increased percent tubular reabsorption of phosphorus"], "types": ["T033"], "canonical_name": "Increased renal tubular phosphate reabsorption"} {"concept_id": "C1968942", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal sacral segmentation", "definition": "An abnormality related to a defect of vertebral separation of sacral vertebrae during development. []"} {"concept_id": "C1968943", "aliases": [], "types": ["T033"], "canonical_name": "Rudimentary to absent tibiae"} {"concept_id": "C1968958", "aliases": [], "types": ["T033"], "canonical_name": "Subependymal nodules", "definition": "Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis. [HPO:probinson, ORCID:0000-0002-1735-8178]"} {"concept_id": "C1968959", "aliases": [], "types": ["T033"], "canonical_name": "Cortical tubers", "definition": "Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. [HPO:curators]"} {"concept_id": "C1968999", "aliases": [], "types": ["T033"], "canonical_name": "Rib segmentation abnormalities"} {"concept_id": "C1969000", "aliases": ["Small neck muscle", "Underdevelopment of neck muscle", "Decreased size of neck muscle"], "types": ["T033"], "canonical_name": "Neck muscle hypoplasia", "definition": "Underdevelopment of muscles of the neck. [HPO:curators]"} {"concept_id": "C1969001", "aliases": ["Underdeveloped shoulder muscle"], "types": ["T033"], "canonical_name": "Shoulder muscle hypoplasia", "definition": "Underdevelopment of muscles of the shoulder. [HPO:probinson]"} {"concept_id": "C1969029", "aliases": ["Type III lissencephaly", "Type 3 lissencephaly"], "types": ["T047"], "definition": "An autosomal dominant sub-type of lissencephaly caused by mutation(s) in the TUBA1A gene, encoding adhesion tubulin alpha-1A chain.", "canonical_name": "Lissencephaly type III"} {"concept_id": "C1969073", "aliases": ["Non-gap acidosis"], "types": ["T047"], "canonical_name": "Hyperchloremic metabolic acidosis", "definition": "A form of metabolic acidosis with increased serum chloride levels. [PMID:31418093]"} {"concept_id": "C1969144", "aliases": ["Cortical cysts"], "types": ["T033"], "canonical_name": "Renal cortical cysts", "definition": "Cysts of the cortex of the kidney. [Eurenomics:fschaefer]"} {"concept_id": "C1969156", "aliases": [], "types": ["T033"], "canonical_name": "EEG with burst suppression", "definition": "The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. [HPO:probinson, PMID:22323592]"} {"concept_id": "C1969176", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic pubic rami"} {"concept_id": "C1969178", "aliases": ["Mesomelia of the lower limbs", "Mesomelic lower limb shortening"], "types": ["T033"], "canonical_name": "Mesomelic leg shortening", "definition": "Shortening of the middle parts of the leg in relation to the upper and terminal segments. [HPO:sdoelken]"} {"concept_id": "C1969181", "aliases": ["Absent/hypoplastic tibia", "Absent/small shinbone", "Aplastic/hypoplastic tibia", "Absent/underdeveloped shankbone", "Absent/small shankbone", "Absent/underdeveloped shinbone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the tibia", "definition": "Absence or underdevelopment of the tibia. [HPO:curators]"} {"concept_id": "C1969185", "aliases": ["Wavy ribs"], "types": ["T033"], "canonical_name": "Undulate ribs", "definition": "A physical quality in which the rib is undulating."} {"concept_id": "C1969220", "aliases": [], "types": ["T033"], "canonical_name": "Depletion of components of the alternative complement pathway", "definition": "An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products. [https://en.wikipedia.org/wiki/Alternative_complement_pathway]"} {"concept_id": "C1969222", "aliases": [], "types": ["T033"], "canonical_name": "Decreased serum complement factor H", "definition": "A reduced level of the complement component Factor H in circulation. [https://emedicine.medscape.com/article/135478-overview]"} {"concept_id": "C1969236", "aliases": ["Pseudosyndactyly"], "types": ["T019"], "canonical_name": "Mitten deformity", "definition": "Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a mitten\" hand deformity.\" [HPO:probinson, PMID:20301304]"} {"concept_id": "C1969237", "aliases": ["Tapered outermost finger bone", "Tapered distal phalanges", "Tapered distal phalanges of the hand"], "types": ["T033"], "canonical_name": "Tapered distal phalanges of finger", "definition": "A reduction in diameter of the distal phalanx of finger towards the distal end. [HPO:probinson]"} {"concept_id": "C1969238", "aliases": ["Widely spaced toes"], "types": ["T033"], "canonical_name": "Widely spaced toes", "definition": "An overall widening of the spaces between the digits. [HPO:probinson, PMID:19125433]"} {"concept_id": "C1969286", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic distal radial epiphyses", "definition": "Underdevelopment of the distal epiphysis of the radius. [HPO:curators]"} {"concept_id": "C1969287", "aliases": [], "types": ["T033"], "canonical_name": "Expanded phalanges with widened medullary cavities"} {"concept_id": "C1969288", "aliases": [], "types": ["T033"], "canonical_name": "Expanded metacarpals with widened medullary cavities"} {"concept_id": "C1969289", "aliases": [], "types": ["T033"], "canonical_name": "Expanded metatarsals with widened medullary cavities"} {"concept_id": "C1969291", "aliases": [], "types": ["T046"], "canonical_name": "Aortic arch calcification", "definition": "Calcification, that is, pathological deposition of calcium salts in the arch of aorta. [HPO:probinson]"} {"concept_id": "C1969292", "aliases": [], "types": ["T033"], "canonical_name": "Thoracic aorta calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta. [HPO:probinson]"} {"concept_id": "C1969363", "aliases": [], "types": ["T033"], "canonical_name": "Middle age onset", "definition": "A type of adult onset with onset of symptoms at the age of 40 to 60 years. [HPO:probinson]"} {"concept_id": "C1969371", "aliases": [], "types": ["T033"], "canonical_name": "Impaired renal uric acid clearance", "definition": "A reduction in the ability of the kidneys to remove uric acid from the serum. [HPO:probinson]"} {"concept_id": "C1969372", "aliases": ["Tubulointerstitial renal fibrosis"], "types": ["T047"], "definition": "A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy. [HPO:probinson, PMID:19144691, PMID:22449945]", "canonical_name": "Tubulointerstitial fibrosis"} {"concept_id": "C1969393", "aliases": [], "types": ["T033"], "canonical_name": "Anterior vertebral fusion"} {"concept_id": "C1969394", "aliases": [], "types": ["T019"], "canonical_name": "Congenital earlobe sinuses", "definition": "Pits in the earlobes at the location where ears are typically pierced for earrings. [PMID:6958333]"} {"concept_id": "C1969396", "aliases": [], "types": ["T033"], "canonical_name": "Asymmetric radial dysplasia", "definition": "The presence of asymmetric developmental dysplasia of the radius. [HPO:probinson]"} {"concept_id": "C1969397", "aliases": ["Shortened 2nd long bone of hand", "Rudimentary 2nd metacarpal"], "types": ["T033"], "canonical_name": "Short 2nd metacarpal", "definition": "Short second metacarpal bone because of developmental hypoplasia. [HPO:probinson]"} {"concept_id": "C1969404", "aliases": ["Large frontal sinus"], "types": ["T033"], "canonical_name": "Prominent frontal sinuses"} {"concept_id": "C1969406", "aliases": [], "types": ["T033"], "canonical_name": "Copper beaten skull", "definition": "Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper. [PMID:31466955]"} {"concept_id": "C1969408", "aliases": ["Increased U wave amplitude"], "types": ["T033"], "canonical_name": "Prominent U wave", "definition": "Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave. []"} {"concept_id": "C1969410", "aliases": [], "types": ["T033"], "canonical_name": "Bidirectional ventricular ectopy"} {"concept_id": "C1969462", "aliases": [], "types": ["T033"], "canonical_name": "Demyelinating motor neuropathy", "definition": "Demyelination of peripheral motor nerves. [HPO:probinson]"} {"concept_id": "C1969516", "aliases": [], "types": ["T033"], "canonical_name": "Aberrant melanosome maturation"} {"concept_id": "C1969532", "aliases": [], "types": ["T033"], "canonical_name": "Rhizomelic arm shortening", "definition": "Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). [HPO:probinson]"} {"concept_id": "C1969546", "aliases": [], "types": ["T033"], "canonical_name": "Thyroid follicular hyperplasia"} {"concept_id": "C1969572", "aliases": ["Prolonged bleeding after dental extraction"], "types": ["T046"], "canonical_name": "Prolonged bleeding after dental extraction", "definition": "Prolonged bleeding post dental extraction sufficient to require medical intervention. [HPO:probinson, WWW:wouwehand]"} {"concept_id": "C1969673", "aliases": ["Darkening of the forehead"], "types": ["T033"], "canonical_name": "Forehead hyperpigmentation"} {"concept_id": "C1969675", "aliases": [], "types": ["T033"], "canonical_name": "Punctate lenticular opacities"} {"concept_id": "C1969679", "aliases": ["Posterior wedging"], "types": ["T033"], "canonical_name": "Posterior wedging of vertebral bodies", "definition": "An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back). [HPO:probinson]"} {"concept_id": "C1969680", "aliases": ["High iliac wings", "Narrow, high iliac wings"], "types": ["T033"], "canonical_name": "High iliac wing", "definition": "Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). [HPO:probinson]"} {"concept_id": "C1969697", "aliases": ["Repetitive compulsive behavior", "Repetitive compulsive behaviour"], "types": ["T048"], "canonical_name": "Repetitive compulsive behavior"} {"concept_id": "C1969722", "aliases": [], "types": ["T033"], "canonical_name": "Impaired pursuit initiation and maintenance"} {"concept_id": "C1969738", "aliases": ["Early loss of secondary dentition", "Early loss of permanent teeth", "Premature loss of adult teeth", "Early loss of adult teeth", "Premature loss of secondary teeth"], "types": ["T033"], "canonical_name": "Premature loss of permanent teeth", "definition": "Premature loss of the permanent teeth. [HPO:ibailleulforestier]"} {"concept_id": "C1969875", "aliases": [], "types": ["T033"], "canonical_name": "Beta-cell dysfunction"} {"concept_id": "C1969879", "aliases": ["Limb contractures"], "types": ["T190"], "canonical_name": "Limb joint contracture", "definition": "A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. [HPO:probinson]"} {"concept_id": "C1969913", "aliases": ["Generalised hyperkeratosis", "Hyperkeratosis, generalized", "Hyperkeratosis, generalised"], "types": ["T033"], "canonical_name": "Generalized hyperkeratosis"} {"concept_id": "C1970112", "aliases": ["Absent cutis congenita of vertex", "Aplasia cutis congenita of vertex"], "types": ["T019"], "canonical_name": "Aplasia cutis congenita over the scalp vertex", "definition": "A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline. [HPO:curators]"} {"concept_id": "C1970167", "aliases": ["Blue/yellow colour vision defect"], "types": ["T033"], "canonical_name": "Blue/yellow color vision defect"} {"concept_id": "C1970168", "aliases": ["Red/green colour vision defect"], "types": ["T033"], "canonical_name": "Red/green color vision defect"} {"concept_id": "C1970257", "aliases": [], "types": ["T033"], "canonical_name": "Decreased serum complement factor I", "definition": "A reduced level of the complement component Factor I in circulation. [https://emedicine.medscape.com/article/135478-overview]"} {"concept_id": "C1970263", "aliases": ["Increased susceptibility to neisseria meningitidis infections"], "types": ["T033"], "canonical_name": "Recurrent meningococcal disease", "definition": "Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus. [HPO:curators]"} {"concept_id": "C1970284", "aliases": [], "types": ["T033"], "canonical_name": "Variable progression rate", "definition": "Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another. []"} {"concept_id": "C1970308", "aliases": ["Agenesis of a tooth", "Selective tooth agenesis"], "types": ["T019"], "definition": "Agenesis specifically affecting one of the classes incisor, premolar, or molar. [HPO:ibailleulforestier]", "canonical_name": "Failure of development of a tooth"} {"concept_id": "C1970461", "aliases": [], "types": ["T033"], "canonical_name": "Externally rotated/abducted legs"} {"concept_id": "C1970463", "aliases": [], "types": ["T033"], "canonical_name": "Type 1 collagen overmodification"} {"concept_id": "C1970497", "aliases": ["Crumpled long bones"], "types": ["T033"], "canonical_name": "Crumpled long bones", "definition": "An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. [HPO:probinson]"} {"concept_id": "C1970501", "aliases": ["Underdeveloped lung veins"], "types": ["T033"], "canonical_name": "Hypoplastic pulmonary veins"} {"concept_id": "C1970591", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal pupillary light reflex", "definition": "An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. [HPO:probinson]"} {"concept_id": "C1970617", "aliases": ["Underdeveloped spleen"], "types": ["T190"], "canonical_name": "Hypoplastic spleen", "definition": "Underdevelopment of the spleen. [HPO:curators]"} {"concept_id": "C1970625", "aliases": ["Left atrium hypoplasia", "Underdeveloped left heart atrium"], "types": ["T190"], "canonical_name": "Hypoplastic left atrium", "definition": "Underdeveloped, small left heart atrium []"} {"concept_id": "C1970630", "aliases": ["Absent lung vessels"], "types": ["T033"], "canonical_name": "Agenesis of pulmonary vessels", "definition": "A developmental defect characterized by the lack of formation of the pulmonary blood vessels. []"} {"concept_id": "C1970705", "aliases": ["Easily breakable hair"], "types": ["T033"], "canonical_name": "Fragile hair"} {"concept_id": "C1970777", "aliases": [], "types": ["T033"], "canonical_name": "Abnormally folded helix", "definition": "Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape. [PMID:19152421]"} {"concept_id": "C1970816", "aliases": ["Small sacrum"], "types": ["T033"], "canonical_name": "Hypoplastic sacrum"} {"concept_id": "C1970883", "aliases": [], "types": ["T047"], "canonical_name": "Peripheral sensory axonal neuropathy"} {"concept_id": "C1970887", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal middle ear reflexes"} {"concept_id": "C1971624", "aliases": [], "types": ["T033"], "canonical_name": "No appetite"} {"concept_id": "C1996949", "aliases": [], "types": ["T033"], "definition": "Presence of nodules in the conjunctiva of the eye. [HPO:probinson]", "canonical_name": "Conjunctival nodule"} {"concept_id": "C1997760", "aliases": ["Hyperplasia of zygomatic bone"], "types": ["T033"], "canonical_name": "Hyperplasia of cheekbone"} {"concept_id": "C1997984", "aliases": [], "types": ["T033"], "definition": "Inability of the heart to increase its rate commensurate with increased activity or demand. [PMID:21382903]", "canonical_name": "Chronotropic incompetence"} {"concept_id": "C1998313", "aliases": [], "types": ["T033"], "definition": "An electrocardiographic finding in which there are variations in the shape, amplitude, or direction of the T wave from one beat to the next.", "canonical_name": "T-wave alternans"} {"concept_id": "C2004435", "aliases": [], "types": ["T047"], "definition": "Disease of the large or small intestine that is caused by inadequate blood supply.", "canonical_name": "Intestinal ischemia"} {"concept_id": "C2004456", "aliases": [], "types": ["T047"], "definition": "A type of cirrhosis characterized by the presence of large regenerative nodules. [HPO:probinson]", "canonical_name": "Macronodular cirrhosis"} {"concept_id": "C2004487", "aliases": ["Myalgia of pelvic floor", "Pelvic floor myalgia"], "types": ["T047"], "definition": "Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection.", "canonical_name": "Vaginismus"} {"concept_id": "C2004632", "aliases": ["Aberrant right subclavian artery", "Arteria lusoria"], "types": ["T019"], "definition": "Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria. [PMID:25105156]", "canonical_name": "Lusorian artery"} {"concept_id": "C2012942", "aliases": [], "types": ["T047"], "canonical_name": "Ophthalmic artery occlusion", "definition": "A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs. [PMID:30148234, UManchester:psergouniotis]"} {"concept_id": "C2016599", "aliases": ["Pain between shoulder blades"], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades. []", "canonical_name": "Intrascapular pain"} {"concept_id": "C2017869", "aliases": [], "types": ["T033"], "definition": "Reduced number or density of facial hair. [HPO:probinson]", "canonical_name": "Sparse facial hair"} {"concept_id": "C2018408", "aliases": ["Spindle cell carcinoma of the tongue"], "types": ["T191"], "canonical_name": "Sarcomatoid carcinoma of the tongue", "definition": "Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation. [HPO:probinson, PMID:20730609]"} {"concept_id": "C2025392", "aliases": [], "types": ["T019"], "canonical_name": "Polar cataract", "definition": "A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. [HPO:probinson]"} {"concept_id": "C2032780", "aliases": [], "types": ["T033"], "canonical_name": "Palate fistula", "definition": "A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate. [HPO:probinson]"} {"concept_id": "C2033396", "aliases": [], "types": ["T033"], "canonical_name": "Yellow papule", "definition": "A papule with yellow color. []"} {"concept_id": "C2036842", "aliases": ["Inferior subluxated lens"], "types": ["T047"], "canonical_name": "Inferior lens subluxation", "definition": "Partial displacement of the lens in the inferior direction. [HPO:probinson]"} {"concept_id": "C2036843", "aliases": ["Superior subluxated lens"], "types": ["T047"], "canonical_name": "Superior lens subluxation", "definition": "Partial dislocation of the lens in a superior direction. [HPO:probinson, PMID:5087595]"} {"concept_id": "C2037047", "aliases": ["Subretinal pigment epithelium haemorrhage"], "types": ["T046"], "canonical_name": "Subretinal pigment epithelium hemorrhage", "definition": "An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane. []"} {"concept_id": "C2047516", "aliases": [], "types": ["T033"], "canonical_name": "Hyperkeratotic papule", "definition": "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically). [PMID:3632007]"} {"concept_id": "C2047793", "aliases": [], "types": ["T033"], "canonical_name": "Hypopigmented macule", "definition": "A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. [PMID:24023426]"} {"concept_id": "C2048011", "aliases": ["Increased immunoglobulin level", "Raised immunoglobulin levels"], "types": ["T033"], "canonical_name": "Elevated immunoglobulin levels"} {"concept_id": "C2051831", "aliases": ["Funnel chest"], "types": ["T190"], "definition": "A clinical finding in which there is depression of the sternum visible on examination of the chest. (ACC-AHA)", "canonical_name": "Pectus excavatum"} {"concept_id": "C2053435", "aliases": ["Failure of development of cupid's bow", "Lack of cupid's bow", "Aplasia of cupid's bow", "Missing cupid's bow", "Agenesis of cupid's bow", "Absent cupid's bow"], "types": ["T033"], "canonical_name": "Absent cupid's bow", "definition": "Lack of paramedian peaks and median notch of the upper lip vermilion. [PMID:19125428]"} {"concept_id": "C2053437", "aliases": [], "types": ["T033"], "canonical_name": "Full lower lip"} {"concept_id": "C2053440", "aliases": ["Decreased volume of lower lip vermilion", "Thin red part of the lower lip", "Decreased height of lower lip vermilion", "Thin lower lip", "Thin vermilion border of lower lip", "Decreased volume of lower lip"], "types": ["T033"], "canonical_name": "Thin lower lip vermilion", "definition": "Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective). [PMID:19125428]"} {"concept_id": "C2062349", "aliases": [], "types": ["T190"], "canonical_name": "Colonic arteriovenous malformation", "definition": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon. []"} {"concept_id": "C2062593", "aliases": [], "types": ["T047"], "canonical_name": "Mesial temporal sclerosis"} {"concept_id": "C2062713", "aliases": [], "types": ["T047"], "canonical_name": "Progressive ophthalmoplegia"} {"concept_id": "C2062848", "aliases": [], "types": ["T033"], "canonical_name": "Posterior mediastinal mass", "definition": "A type of inferior mediastinal mass that is located behind the pericardium. []"} {"concept_id": "C2062854", "aliases": [], "types": ["T033"], "canonical_name": "Superior mediastinal mass", "definition": "A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4). []"} {"concept_id": "C2062868", "aliases": ["Aneurysm of the aortic sinus"], "types": ["T047"], "canonical_name": "Aortic sinus aneurysm"} {"concept_id": "C2062952", "aliases": ["Pleural pseudotumor", "Pleuroma", "Folded lung syndrome", "Blesovsky syndrome", "Comet tail sign", "Helical atelectasis"], "types": ["T047"], "definition": "Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung. [PMID:18195376]", "canonical_name": "Rounded atelectasis"} {"concept_id": "C2063326", "aliases": ["Cardiomyopathy, esp. right ventricular", "Cardiomyopathy, right ventricular"], "types": ["T047"], "canonical_name": "Right ventricular cardiomyopathy", "definition": "Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. [HPO:probinson, PMID:17916581]"} {"concept_id": "C2063331", "aliases": [], "types": ["T019"], "canonical_name": "Coronary sinus atrial septal defect", "definition": "An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus. [DDD:dbrown, HPO:probinson, PMID:18806021]"} {"concept_id": "C2064234", "aliases": [], "types": ["T191"], "canonical_name": "Anal margin neoplasm", "definition": "A tumor of the anal margin. [HPO:probinson, PMID:22379406]"} {"concept_id": "C2080645", "aliases": ["Photosensitive seizure"], "types": ["T047"], "canonical_name": "Visually-induced seizure", "definition": "Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect. [ORCID:0000-0002-1735-8178, PMID:11422340]"} {"concept_id": "C2083352", "aliases": ["Atrophy of the rectus femoris muscles"], "types": ["T047"], "canonical_name": "Rectus femoris muscle atrophy"} {"concept_id": "C2108146", "aliases": ["Interphalangeal extension contractures of thumbs"], "types": ["T033"], "canonical_name": "Contractures of the interphalangeal joint of the thumb", "definition": "Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis. [HPO:probinson]"} {"concept_id": "C2108151", "aliases": [], "types": ["T033"], "canonical_name": "Contractures of the metacarpophalangeal joint of the thumb", "definition": "Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis. [HPO:probinson]"} {"concept_id": "C2109272", "aliases": [], "types": ["T033"], "canonical_name": "Corneal keratic precipitates", "definition": "An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea. []"} {"concept_id": "C2112129", "aliases": ["Extra toe attached near the little toe", "Postaxial polydactyly of foot", "Polydactyly affecting the 5th toe", "Postaxial polydactyly of feet", "Posterior polydactyly of foot"], "types": ["T019"], "canonical_name": "Postaxial foot polydactyly", "definition": "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. [HPO:curators]"} {"concept_id": "C2112942", "aliases": ["Preaxial polydactyly, feet", "Preaxial polydactyly of the feet", "Preaxial polydactyly of feet", "Preaxial polydactyly of foot"], "types": ["T033"], "canonical_name": "Preaxial foot polydactyly", "definition": "Duplication of all or part of the first ray. [HPO:probinson, PMID:19125433]"} {"concept_id": "C2117390", "aliases": ["Splayed toes"], "types": ["T033"], "canonical_name": "Splayed toes", "definition": "Divergence of digits along the anteroposterior axis (in the plane of the sole). [PMID:19125433]"} {"concept_id": "C2118097", "aliases": ["Absent gonadal tissue", "Gonadal agenesis"], "types": ["T047"], "definition": "Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). []", "canonical_name": "Agonadism"} {"concept_id": "C2118460", "aliases": [], "types": ["T047"], "definition": "An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum). [HPO:sdoelken]", "canonical_name": "Acute colitis"} {"concept_id": "C2121436", "aliases": ["PR interval elevation", "PTa elevation"], "types": ["T033"], "canonical_name": "PR segment elevation", "definition": "An increase in voltage of the PR segment above baseline. []"} {"concept_id": "C2126089", "aliases": [], "types": ["T184"], "canonical_name": "Weak grip", "definition": "Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand. [PMID:26055647]"} {"concept_id": "C2126312", "aliases": [], "types": ["T033"], "canonical_name": "Yellow skin plaque", "definition": "A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color. []"} {"concept_id": "C2128203", "aliases": [], "types": ["T033"], "canonical_name": "Excessive face hair"} {"concept_id": "C2132198", "aliases": ["Blisters", "Blistering, generalised", "Abnormal blistering of the skin"], "types": ["T033"], "definition": "The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. [HPO:probinson, PMID:31596619]", "canonical_name": "Blistering, generalized"} {"concept_id": "C2138388", "aliases": ["Absent cremasteric reflex"], "types": ["T033"], "canonical_name": "Absent cremaster reflex", "definition": "Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex. [PMID:12891505]"} {"concept_id": "C2139105", "aliases": [], "types": ["T047"], "canonical_name": "Laser pointer-induced retinopathy"} {"concept_id": "C2139237", "aliases": [], "types": ["T033"], "canonical_name": "Lower eyelid laxity", "definition": "Abnormally lax lower eyelid associated with tissue relaxation. [UManchester:psergouniotis]"} {"concept_id": "C2139265", "aliases": [], "types": ["T033"], "canonical_name": "Upper eyelid laxity", "definition": "Abnormally lax upper eyelid associated with tissue relaxation. [UManchester:psergouniotis]"} {"concept_id": "C2146481", "aliases": [], "types": ["T047"], "canonical_name": "Bilateral vocal cord paralysis", "definition": "A loss of the ability to move the vocal fold on both sides. [HPO:probinson]"} {"concept_id": "C2153623", "aliases": [], "types": ["T033"], "canonical_name": "Yellow nodule", "definition": "A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion). [PMID:22223978]"} {"concept_id": "C2164724", "aliases": [], "types": ["T033"], "canonical_name": "Deformity of the external nose"} {"concept_id": "C2168996", "aliases": [], "types": ["T033"], "canonical_name": "Radial deviation of the thumb"} {"concept_id": "C2169794", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent streptococcus pneumoniae infections", "definition": "Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae. [HPO:probinson]"} {"concept_id": "C2169795", "aliases": ["Recurrent infections in bronchi and lungs"], "types": ["T033"], "canonical_name": "Recurrent bronchopulmonary infections", "definition": "An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections. [HPO:probinson]"} {"concept_id": "C2169806", "aliases": ["Tics"], "types": ["T184"], "definition": "Involuntary sudden, rapid, recurrent, nonrhythmic, stereotyped motor movement or vocalization.", "canonical_name": "Tic disorder"} {"concept_id": "C2176208", "aliases": ["Retinal arteriolar narrowing", "Constricted retinal arterioles", "Narrow retinal arterioles"], "types": ["T033"], "canonical_name": "Retinal arteriolar constriction", "definition": "Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. [HPO:probinson]"} {"concept_id": "C2183966", "aliases": ["Abnormality of the lip", "Abnormal lip", "Malformation of lip", "Deformity of lip", "Anomaly of lip", "Lip abnormality"], "types": ["T190"], "canonical_name": "Abnormal lip morphology", "definition": "An abnormality of the lip. [HPO:probinson]"} {"concept_id": "C2186266", "aliases": [], "types": ["T033"], "canonical_name": "Family history of heart disease", "definition": "A history of a first-degree relative with heart disease."} {"concept_id": "C2187053", "aliases": ["Macular haemorrhage"], "types": ["T046"], "canonical_name": "Macular hemorrhage", "definition": "Bleeding occurring within the macula lutea of the retina. []"} {"concept_id": "C2187340", "aliases": [], "types": ["T033"], "definition": "An elevation of the eyelid above the normal level in the primary position. [PMID:7735674]", "canonical_name": "Upper eyelid retraction"} {"concept_id": "C2197691", "aliases": [], "types": ["T019"], "definition": "Hypospadias with location of the urethral meatus in the scrotum. [HPO:probinson]", "canonical_name": "Scrotal hypospadias"} {"concept_id": "C2199604", "aliases": [], "types": ["T033"], "canonical_name": "Easy bleeding", "definition": "Bleeding that is disproportionate to the offending trauma."} {"concept_id": "C2202686", "aliases": [], "types": ["T033"], "canonical_name": "Vitreous veils"} {"concept_id": "C2206518", "aliases": [], "types": ["T033"], "canonical_name": "EEG with frontal sharp waves", "definition": "EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec. [HPO:jalbers]"} {"concept_id": "C2206519", "aliases": [], "types": ["T033"], "canonical_name": "EEG with temporal sharp waves", "definition": "EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec. [HPO:jalbers]"} {"concept_id": "C2206520", "aliases": [], "types": ["T033"], "canonical_name": "EEG with parietal sharp waves", "definition": "EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec. [HPO:jalbers]"} {"concept_id": "C2206521", "aliases": [], "types": ["T033"], "canonical_name": "EEG with occipital sharp waves", "definition": "EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec. [HPO:jalbers]"} {"concept_id": "C2206531", "aliases": ["EEG with generalised spikes"], "types": ["T033"], "canonical_name": "EEG with generalized spikes", "definition": "EEG with generalized sharp transient waves of a duration less than 80 msec. [HPO:jalbers]"} {"concept_id": "C2207327", "aliases": [], "types": ["T033"], "canonical_name": "EEG with central sharp waves", "definition": "EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec. [HPO:jalbers]"} {"concept_id": "C2208973", "aliases": [], "types": ["T033"], "canonical_name": "Tapered sperm head", "definition": "Sperm with cigar-shaped heads that gradually dimish in diameter (taper). [PMID:28692759]"} {"concept_id": "C2216326", "aliases": [], "types": ["T047"], "canonical_name": "Distal acinar emphysema"} {"concept_id": "C2216370", "aliases": ["Macular cherry red spot"], "types": ["T033"], "canonical_name": "Cherry red spot of the macula", "definition": "Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula. [HPO:probinson]"} {"concept_id": "C2219850", "aliases": ["Has loud snoring", "Heavy snoring", "Have loud snoring", "Loud snoring"], "types": ["T184"], "definition": "Particularly loud snoring, snoring at high volume. [NCIT:C121601]", "canonical_name": "Snores loudly"} {"concept_id": "C2219980", "aliases": [], "types": ["T184"], "canonical_name": "Quotidian fever", "definition": "Fever that occurs at daily intervals. [PMID:28546530]"} {"concept_id": "C2220010", "aliases": ["Socially inappropriate behaviour", "Socially inappropriate behavior"], "types": ["T048"], "canonical_name": "Socially inappropriate behavior", "definition": "Behavior that is not in line with social norms. [ICM:PCaroppo]"} {"concept_id": "C2220104", "aliases": ["Blister"], "types": ["T033"], "canonical_name": "Skin blisters"} {"concept_id": "C2225524", "aliases": ["Breasts enlarged", "Large breast", "Breast enlargement"], "types": ["T033"], "canonical_name": "Macromastia"} {"concept_id": "C2227020", "aliases": ["Deformity of the nasal ala"], "types": ["T190"], "canonical_name": "Deformity of the nasal alar cartilage"} {"concept_id": "C2227090", "aliases": ["Maxillary hyperplasia", "Big upper jaw", "Large maxilla", "Hyperplasia of the maxilla", "Upper jaw excess", "Increased size of maxilla", "Maxillary prominence", "Hyperplasia of upper jaw", "Large upper jaw", "Prominent maxilla", "Increased size of upper jaw", "Maxillary excess", "Prominent upper jaw", "Big maxilla"], "types": ["T033"], "definition": "Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. []", "canonical_name": "Upper jaw bone excess"} {"concept_id": "C2227134", "aliases": [], "types": ["T033"], "canonical_name": "Mandibular excess"} {"concept_id": "C2228039", "aliases": [], "types": ["T033"], "canonical_name": "Ankle weakness", "definition": "Reduced strength of the muscles that lift or otherwise move the foot at the ankle. []"} {"concept_id": "C2228270", "aliases": [], "types": ["T033"], "canonical_name": "Erythematous macule", "definition": "A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation. []"} {"concept_id": "C2229182", "aliases": [], "types": ["T033"], "canonical_name": "Psychomotor retardation, mild"} {"concept_id": "C2230441", "aliases": [], "types": ["T033"], "canonical_name": "Triceps weakness", "definition": "A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements. []"} {"concept_id": "C2234408", "aliases": ["Lid laxity"], "types": ["T033"], "canonical_name": "Eyelid laxity", "definition": "Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test. [UManchester:psergouniotis]"} {"concept_id": "C2235909", "aliases": ["Nasal malformation"], "types": ["T190"], "canonical_name": "Malformation of the nose"} {"concept_id": "C2237142", "aliases": ["Psychomotor retardation, moderate", "Global developmental delay, moderate"], "types": ["T033"], "canonical_name": "Moderate global developmental delay", "definition": "A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. [DDD:hvfirth]"} {"concept_id": "C2237347", "aliases": [], "types": ["T034"], "canonical_name": "Sickled erythrocytes", "definition": "An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains). []"} {"concept_id": "C2239176", "aliases": [], "types": ["T191"], "definition": "A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.", "canonical_name": "Hepatocellular carcinoma"} {"concept_id": "C2239253", "aliases": [], "types": ["T047"], "definition": "A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.", "canonical_name": "Sinus of Valsalva aneurysm"} {"concept_id": "C2242472", "aliases": [], "types": ["T047"], "definition": "An acute or chronic infectious process affecting the bones.", "canonical_name": "Bone infection"} {"concept_id": "C2242552", "aliases": ["Phantosmia", "Phantom odor", "Phantom smell"], "types": ["T047"], "definition": "Detection of odors that are not present.", "canonical_name": "Phantom odour"} {"concept_id": "C2242577", "aliases": ["Cranial dystonia"], "types": ["T184"], "definition": "A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. [HPO:probinson]", "canonical_name": "Oromandibular dystonia"} {"concept_id": "C2242579", "aliases": ["Tongue dystonia"], "types": ["T184"], "canonical_name": "Lingual dystonia", "definition": "Involuntary protrusions, movements, spams and contortions of the tongue. [PMID:24808861]"} {"concept_id": "C2242813", "aliases": ["Sublingual ptyalocele", "Ranula"], "types": ["T047"], "definition": "A form of retention cyst of the floor of the mouth, usually due to obstruction of the ducts of the submaxillary or sublingual glands, presenting a slowly enlarging painless deep burrowing mucocele of one side of the mouth. It is also called sublingual cyst and sublingual ptyalocele.", "canonical_name": "Sublingual cyst"} {"concept_id": "C2243051", "aliases": ["Increased size of head", "Large head circumference", "Big cranium", "Increased size of cranium", "Large head", "Big head", "Macrocephaly", "Macrocrania"], "types": ["T033"], "definition": "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. [PMID:19125436]", "canonical_name": "Large cranium"} {"concept_id": "C2265792", "aliases": ["Muscle hypertrophy", "Skeletal muscle hypertrophy", "Hypertrophic muscles", "Increased skeletal muscle cells"], "types": ["T042"], "definition": "The enlargement or overgrowth of all or part of an organ due to an increase in size (not length) of individual muscle fibers without cell division. In the case of skeletal muscle cells this happens due to the additional synthesis of sarcomeric proteins and assembly of myofibrils. [GOC:mtg_muscle]", "canonical_name": "Muscular hypertrophy"} {"concept_id": "C2266639", "aliases": ["Missing eyebrow", "Lack of eyebrow"], "types": ["T033"], "canonical_name": "Absence of eyebrow"} {"concept_id": "C2266788", "aliases": ["Pilar cyst"], "types": ["T047"], "definition": "Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous. []", "canonical_name": "Trichilemmal cyst"} {"concept_id": "C2267233", "aliases": ["Low muscle tone, in neonatal onset", "Hypotonia, neonatal", "Hypotonia, in neonatal onset"], "types": ["T047"], "definition": "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. [HPO:curators]", "canonical_name": "Neonatal hypotonia"} {"concept_id": "C2315100", "aliases": ["Failure to thrive"], "types": ["T047"], "definition": "Less than normal weight gain in an infant or child, which may include poor linear and head growth.", "canonical_name": "Postnatal failure to thrive"} {"concept_id": "C2315229", "aliases": ["Deformity of facial skeleton", "Abnormal facial skeleton morphology", "Malformation of facial skeleton", "Abnormality of facial skeleton", "Malformation of facial bones", "Deformity of the facial bones", "Abnormality of facial bones", "Anomaly of facial bones"], "types": ["T190"], "definition": "An abnormality of one or more of the set of bones that make up the facial skeleton. [DDD:awilkie]", "canonical_name": "Anomaly of facial skeleton"} {"concept_id": "C2315541", "aliases": ["Renal pelvic diverticulum", "Caliceal diverticulum", "Pelvic diverticulum"], "types": ["T047"], "definition": "Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. [HPO:sdoelken]", "canonical_name": "Renal diverticulum"} {"concept_id": "C2315717", "aliases": ["Cryptotia", "Buried ear"], "types": ["T019"], "definition": "Invagination of the superior part of the auricle under a fold of temporal skin. [PMID:19152421]", "canonical_name": "Hidden ear"} {"concept_id": "C2316401", "aliases": [], "types": ["T047"], "definition": "Long-standing and persistent renal disease with glomerular filtration rate (GFR) greater than 90 ml/min.", "canonical_name": "Stage 1 chronic kidney disease"} {"concept_id": "C2316786", "aliases": [], "types": ["T047"], "definition": "Long-standing and persistent renal disease with glomerular filtration rate (GFR) between 60-89 ml/min.", "canonical_name": "Stage 2 chronic kidney disease"} {"concept_id": "C2316787", "aliases": [], "types": ["T047"], "definition": "Long-standing and persistent renal disease with glomerular filtration rate (GFR) between 30-59 ml/min.", "canonical_name": "Stage 3 chronic kidney disease"} {"concept_id": "C2316810", "aliases": ["End stage renal failure", "Stage 5 chronic kidney disease", "End-stage renal disease", "Renal failure, endstage", "End-stage renal failure", "Chronic renal failure"], "types": ["T047"], "definition": "Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.", "canonical_name": "End stage renal disease"} {"concept_id": "C2317073", "aliases": ["Foetal renal pelvic dilatation", "Mild fetal hydronephrosis", "Fetal pyelectasis", "Mild foetal hydronephrosis", "Fetal renal pelvic dilatation"], "types": ["T047"], "definition": "Dilation of fetal KIDNEY PELVIS. It is a common PRENATAL ULTRASONOGRAPHY finding with no significant long-term sequelae.", "canonical_name": "Foetal pyelectasis"} {"concept_id": "C2317473", "aliases": [], "types": ["T047"], "definition": "Long-standing and persistent renal disease with glomerular filtration rate (GFR) between 15-29 ml/min.", "canonical_name": "Stage 4 chronic kidney disease"} {"concept_id": "C2317548", "aliases": [], "types": ["T033"], "definition": "The presence of an infectious agent in the blood circulation. []", "canonical_name": "Bloodstream infectious agent"} {"concept_id": "C2317797", "aliases": [], "types": ["T191"], "canonical_name": "Vulvar hemangioma", "definition": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva. [PMID:29980161]"} {"concept_id": "C2347979", "aliases": ["Rosette-forming glioneuronal tumour of the fourth ventricle"], "types": ["T191"], "canonical_name": "Rosette-forming glioneuronal tumor of the fourth ventricle", "definition": "A central nervous system neoplasm arising from the fourth ventricle. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal."} {"concept_id": "C2348239", "aliases": ["Low-grade adenocarcinoma of endolymphatic sac origin", "Heffner tumor", "Heffner tumour", "Endolymphatic sac tumour", "Aggressive papillary middle ear tumour", "Aggressive papillary middle ear tumor"], "types": ["T191"], "definition": "A rare, low-grade malignant epithelial tumor arising from the endolymphatic sac in the temporal bone. Morphologically, it is characterized by the presence of papillary and cystic structures. As tumors grow, they may destroy petrous temporal bone and extend into the middle ear and the middle and posterior cranial fossae and into the cerebellopontine angle. (WHO 2017)", "canonical_name": "Endolymphatic sac tumor"} {"concept_id": "C2349595", "aliases": [], "types": ["T047"], "definition": "Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery. [ORCID:0000-0002-8593-2186, PMID:30718211]", "canonical_name": "Fetal anemia"} {"concept_id": "C2349945", "aliases": [], "types": ["T033"], "definition": "An electrocardiographic finding of a QRS amplitude less than or equal to 0.5 mV in the limb leads or QRS amplitude less than or equal to 1 mV in the precordial leads. (CDISC)", "canonical_name": "Decreased QRS voltage"} {"concept_id": "C2350875", "aliases": [], "types": ["T047"], "definition": "A form that is characterized by partial or complete obstruction of bronchiolar lumens resulting from chronic bronchiolar inflammation, scarring, and smooth muscle hypertrophy.", "canonical_name": "Constrictive bronchiolitis"} {"concept_id": "C2363771", "aliases": [], "types": ["T047"], "definition": "A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. [https://www.aoa.org/]", "canonical_name": "Myopic astigmatism"} {"concept_id": "C2363934", "aliases": ["Agenesis of the ductus venosus"], "types": ["T019"], "canonical_name": "Ductus venosus agenesis", "definition": "Congenital absence of the fetal ductus venosus."} {"concept_id": "C2363966", "aliases": ["Pulmonary arterial hypertension crisis"], "types": ["T047"], "canonical_name": "Pulmonary hypertensive crisis", "definition": "Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output. [PMID:27295157]"} {"concept_id": "C2364082", "aliases": ["Sense of smell impaired", "Decreased smell sensation"], "types": ["T184"], "definition": "Decreased ability to smell.", "canonical_name": "Hyposmia"} {"concept_id": "C2364111", "aliases": ["Lost taste", "Absent sense of taste", "Ageusia"], "types": ["T184"], "definition": "Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS.", "canonical_name": "Impaired taste sensation"} {"concept_id": "C2364164", "aliases": ["Fluid imbalance"], "types": ["T033"], "definition": "An abnormality of the regulation of body fluids. [HPO:probinson]", "canonical_name": "Abnormality of fluid regulation"} {"concept_id": "C2584658", "aliases": ["Reflex asystolic syncope", "Reflex anoxic seizure"], "types": ["T033"], "definition": "A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure. [PMID:23814085]", "canonical_name": "Reflex anoxic seizures"} {"concept_id": "C2586056", "aliases": [], "types": ["T046"], "definition": "Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent. [HPO:probinson, PMID:12860883]", "canonical_name": "Permanent atrial fibrillation"} {"concept_id": "C2607914", "aliases": [], "types": ["T047"], "definition": "Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life.", "canonical_name": "Allergic rhinitis"} {"concept_id": "C2607947", "aliases": ["Unilateral deafness", "Deafness, unilateral"], "types": ["T047"], "definition": "A unilateral absence of sensory perception of sound. [HPO:probinson]", "canonical_name": "Deafness in one ear"} {"concept_id": "C2609249", "aliases": [], "types": ["T019"], "canonical_name": "Ureterovesical junction obstruction", "definition": "Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle. [UToronto:chum]"} {"concept_id": "C2609414", "aliases": [], "types": ["T037"], "definition": "Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions.", "canonical_name": "Acute kidney injury"} {"concept_id": "C2613439", "aliases": [], "types": ["T047"], "definition": "Hematopoiesis that occurs outside of the bone marrow. It occurs during fetal development or it may result from pathologic processes that affect the bone marrow.", "canonical_name": "Extramedullary hematopoiesis"} {"concept_id": "C2673302", "aliases": ["Increased urinary sialyloligosaccharides"], "types": ["T033"], "canonical_name": "Urinary excretion of sialylated oligosaccharides", "definition": "Excretion of oligosaccharides conjugated to sialic acid in the urine. [HPO:probinson]"} {"concept_id": "C2673351", "aliases": [], "types": ["T033"], "canonical_name": "Paucity of anterior horn motor neurons"} {"concept_id": "C2673361", "aliases": [], "types": ["T033"], "canonical_name": "Increased serum beta-hexosaminidase"} {"concept_id": "C2673363", "aliases": [], "types": ["T033"], "canonical_name": "Increased serum iduronate sulfatase"} {"concept_id": "C2673394", "aliases": ["Dislocated radioulnar joints"], "types": ["T033"], "canonical_name": "Radioulnar dislocation"} {"concept_id": "C2673395", "aliases": ["Overgrowth of innermost part of calf bone"], "types": ["T033"], "canonical_name": "Proximal fibular overgrowth", "definition": "Overgrowth of the proximal part of the fibula. [HPO:curators]"} {"concept_id": "C2673396", "aliases": [], "types": ["T033"], "canonical_name": "Phalangeal dislocation"} {"concept_id": "C2673397", "aliases": ["Triangular shaped hand bones", "Delta phalanx/delta-like phalanx"], "types": ["T033"], "canonical_name": "Triangular shaped phalanges of the hand"} {"concept_id": "C2673401", "aliases": [], "types": ["T033"], "canonical_name": "Medial deviation of the foot"} {"concept_id": "C2673410", "aliases": [], "types": ["T033"], "canonical_name": "Small midface"} {"concept_id": "C2673431", "aliases": ["Abnormality of the periventricular white matter", "Periventricular white matter abnormalities"], "types": ["T190"], "canonical_name": "Abnormal periventricular white matter morphology", "definition": "A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. []"} {"concept_id": "C2673441", "aliases": ["Renal Ca2+ wasting", "Kidney Ca2+ wasting", "Kidney calcium wasting", "Kidney Ca wasting", "Renal Ca wasting"], "types": ["T033"], "canonical_name": "Renal calcium wasting", "definition": "High urine calcium in the presence of hypocalcemia. [HPO:probinson]"} {"concept_id": "C2673443", "aliases": [], "types": ["T033"], "canonical_name": "Hypermagnesiuria", "definition": "An increased concentration of magnesium the urine. [Eurenomics:fschaefer]"} {"concept_id": "C2673444", "aliases": ["Decreased urine citrate concentration"], "types": ["T033"], "canonical_name": "Hypocitraturia", "definition": "Abnormally low level of citrate in the urine."} {"concept_id": "C2673462", "aliases": ["Staphylococcus aureus infections, recurrent"], "types": ["T033"], "canonical_name": "Recurrent Staphylococcus aureus infections", "definition": "Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection. [HPO:probinson]"} {"concept_id": "C2673558", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary glycerol", "definition": "An increased concentration of glycerol in the urine. []"} {"concept_id": "C2673597", "aliases": ["Congenital localized skin absence", "Congenital localised absence of skin", "Congenital localised skin absence"], "types": ["T019"], "canonical_name": "Congenital localized absence of skin"} {"concept_id": "C2673646", "aliases": ["Prenatal onset", "Intrauterine onset", "Onset in utero"], "types": ["T033"], "canonical_name": "Antenatal onset", "definition": "Onset prior to birth. [HPO:probinson]"} {"concept_id": "C2673652", "aliases": ["Anterior scalloping vertebral bodies"], "types": ["T033"], "canonical_name": "Anterior scalloping of vertebral bodies", "definition": "An excessive concavity of the anterior surface of one or more vertebral bodies. [HPO:curators]"} {"concept_id": "C2673653", "aliases": ["Cuboid vertebral bodies"], "types": ["T033"], "canonical_name": "Cuboid-shaped vertebral bodies"} {"concept_id": "C2673654", "aliases": [], "types": ["T033"], "canonical_name": "Rhizo-meso-acromelic limb shortening"} {"concept_id": "C2673670", "aliases": ["Curly eyelashes"], "types": ["T033"], "canonical_name": "Curly eyelashes", "definition": "Abnormally curly or curved eyelashes. [HPO:curators]"} {"concept_id": "C2673700", "aliases": ["Brisk deep tendon reflexes"], "types": ["T033"], "canonical_name": "Brisk reflexes", "definition": "Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. []"} {"concept_id": "C2673776", "aliases": ["Twisted blood vessels"], "types": ["T033"], "canonical_name": "Vascular tortuosity", "definition": "Abnormal twisting of arteries or veins. [PMID:22433458]"} {"concept_id": "C2673820", "aliases": [], "types": ["T033"], "canonical_name": "Giant cell hepatitis on biopsy"} {"concept_id": "C2673888", "aliases": ["Oligonephronia"], "types": ["T033"], "canonical_name": "Decreased numbers of nephrons", "definition": "A reduction in the count of nephrons per kidney. [Eurenomics:ewuehl]"} {"concept_id": "C2673929", "aliases": [], "types": ["T033"], "canonical_name": "Fundus atrophy"} {"concept_id": "C2673931", "aliases": ["High urine threonine levels"], "types": ["T033"], "canonical_name": "Hyperthreoninuria", "definition": "An increased concentration of threonine in the urine. [HPO:probinson, PMID:18901181, PMID:20240447]"} {"concept_id": "C2673946", "aliases": ["Foveal hypoplasia"], "types": ["T033"], "definition": "Underdevelopment of the fovea centralis. [HPO:probinson]", "canonical_name": "Hypoplasia of the fovea"} {"concept_id": "C2673954", "aliases": ["Absent skin pigmentation", "Lack of skin coloration"], "types": ["T033"], "canonical_name": "Absent skin pigmentation", "definition": "Lack of skin pigmentation (coloring). [HPO:probinson]"} {"concept_id": "C2674149", "aliases": [], "types": ["T033"], "canonical_name": "Hooding of eyelids"} {"concept_id": "C2674171", "aliases": ["Lethal short-limbed dwarfism", "Lethal micromelic dwarfism"], "types": ["T033"], "canonical_name": "Lethal short-limbed short stature"} {"concept_id": "C2674177", "aliases": [], "types": ["T033"], "canonical_name": "Areflexia of upper limbs", "definition": "Inability to elicit tendon reflexes in the upper limbs. [HPO:probinson]"} {"concept_id": "C2674403", "aliases": ["Thick sclera"], "types": ["T033"], "canonical_name": "Scleral thickening", "definition": "Increased dimension of the sclera in the anterior-posterior axis. [HPO:probinson]"} {"concept_id": "C2674407", "aliases": ["Retinoschisis involving the fovea"], "types": ["T033"], "canonical_name": "Foveoschisis", "definition": "Splitting of the retinal layers in the macula. [HPO:probinson]"} {"concept_id": "C2674432", "aliases": ["Decreased bone mineral density Z score", "Decreased bone mineral density", "Low solidness and mass of the bones"], "types": ["T033"], "definition": "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. [HPO:sdoelken]", "canonical_name": "Reduced bone mineral density"} {"concept_id": "C2674451", "aliases": ["Anterior dislocation of radial head"], "types": ["T033"], "canonical_name": "Anterior radial head dislocation", "definition": "A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction. [HPO:probinson]"} {"concept_id": "C2674512", "aliases": [], "types": ["T033"], "canonical_name": "Truncal titubation", "definition": "Tremor of the trunk in an anterior-posterior plane at 3-4 Hz. [HPO:probinson]"} {"concept_id": "C2674600", "aliases": [], "types": ["T033"], "canonical_name": "Prominent deltoid tuberosities"} {"concept_id": "C2674608", "aliases": [], "types": ["T033"], "canonical_name": "Feeding difficulties in infancy", "definition": "Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. [HPO:probinson]"} {"concept_id": "C2674620", "aliases": ["Spontaneous tooth fracture", "Enamel with tendency to chip"], "types": ["T033"], "canonical_name": "Fragile teeth", "definition": "A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma. []"} {"concept_id": "C2674684", "aliases": ["Dystrophic neurite"], "types": ["T033"], "canonical_name": "Neurite dystrophy", "definition": "Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins. [ORCID:0000-0003-2307-1226, PMID:30899091]"} {"concept_id": "C2674737", "aliases": ["Abnormalities of the fingers", "Abnormality of finger"], "types": ["T190"], "canonical_name": "Abnormality of finger", "definition": "An anomaly of a finger. [HPO:probinson]"} {"concept_id": "C2674738", "aliases": ["Abnormality of toe", "Abnormalities of the toes"], "types": ["T190"], "canonical_name": "Abnormality of toe", "definition": "An anomaly of a toe. [HPO:probinson]"} {"concept_id": "C2674853", "aliases": ["Periosteal reaction"], "types": ["T033"], "canonical_name": "Subperiosteal bone formation", "definition": "The formation of new bone along the cortex and underneath the periosteum of a bone. []"} {"concept_id": "C2675021", "aliases": ["Small palpebral fissures", "Narrow palpebral fissures", "Narrow palpebral fissure", "Decreased size of palpebral fissure"], "types": ["T033"], "definition": "Reduction in the vertical distance between the upper and lower eyelids. [HPO:probinson]", "canonical_name": "Small opening between the eyelids"} {"concept_id": "C2675059", "aliases": ["Refractory macrocytic anaemia"], "types": ["T047"], "canonical_name": "Refractory macrocytic anemia"} {"concept_id": "C2675074", "aliases": ["Enlarged peripheral nerves"], "types": ["T033"], "canonical_name": "Enlarged peripheral nerve", "definition": "Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. [HPO:probinson]"} {"concept_id": "C2675111", "aliases": ["Abnormal eyelashes", "Abnormality of the eyelashes", "Eyelash abnormality"], "types": ["T033"], "canonical_name": "Abnormal eyelash morphology", "definition": "An abnormality of the eyelashes. [HPO:probinson]"} {"concept_id": "C2675334", "aliases": [], "types": ["T033"], "canonical_name": "Restrictive behavior, interests, and activities"} {"concept_id": "C2675435", "aliases": [], "types": ["T033"], "canonical_name": "Restrictive external ophthalmoplegia, bilateral"} {"concept_id": "C2675540", "aliases": [], "types": ["T033"], "canonical_name": "Upswept frontal hair pattern"} {"concept_id": "C2675547", "aliases": ["Slender long bones with narrow shaft"], "types": ["T033"], "canonical_name": "Slender long bones with narrow diaphyses", "definition": "Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones. [HPO:probinson]"} {"concept_id": "C2675549", "aliases": ["Disharmonious wrist bone"], "types": ["T033"], "canonical_name": "Disharmonious carpal bone"} {"concept_id": "C2675557", "aliases": [], "types": ["T033"], "canonical_name": "Lumbosacral meningocele"} {"concept_id": "C2675558", "aliases": [], "types": ["T033"], "canonical_name": "Nephroblastomatosis", "definition": "Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. [HPO:probinson, PMID:10707720]"} {"concept_id": "C2675562", "aliases": ["Absence of sacrum ossification"], "types": ["T033"], "canonical_name": "Unossified sacrum", "definition": "Lack of ossification of the sacrum. [HPO:probinson]"} {"concept_id": "C2675590", "aliases": ["Completely missing eyeball", "Total anophthalmia", "Complete anophthalmia"], "types": ["T033"], "canonical_name": "True anophthalmia", "definition": "Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. [DDD:ncarter]"} {"concept_id": "C2675624", "aliases": [], "types": ["T034"], "canonical_name": "Giant cell hepatitis shown on biopsy"} {"concept_id": "C2675627", "aliases": ["Acholia", "Discolored, acholic stools", "Acholic stools", "Clay colored stools"], "types": ["T033"], "definition": "Clay colored stools lacking bile pigment. [HPO:probinson]", "canonical_name": "Clay coloured stools"} {"concept_id": "C2675920", "aliases": [], "types": ["T033"], "canonical_name": "Anisopoikilocytosis", "definition": "A test result indicating the presence of red cells of various sizes and shapes in the peripheral blood."} {"concept_id": "C2675973", "aliases": [], "types": ["T033"], "canonical_name": "Open operculum", "definition": "Underdevelopment of the operculum. [HPO:sdoelken]"} {"concept_id": "C2675993", "aliases": ["Squamous cell carcinoma of the pancreas"], "types": ["T191"], "canonical_name": "Pancreatic squamous cell carcinoma", "definition": "An exceedingly rare squamous cell carcinoma arising from the pancreas."} {"concept_id": "C2676026", "aliases": [], "types": ["T047"], "canonical_name": "Optic nerve dysplasia", "definition": "The presence of developmental dysplasia of the optic nerve. [HPO:probinson]"} {"concept_id": "C2676198", "aliases": ["Elevated serum IGF1", "Increased serum insulin-like growth factor 1", "Increased serum IGF1"], "types": ["T033"], "canonical_name": "Increased serum insulin-like growth factor 1", "definition": "An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation. [HPO:probinson, PMID:18436706]"} {"concept_id": "C2676443", "aliases": [], "types": ["T033"], "canonical_name": "Proximal radio-ulnar synostosis", "definition": "An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. [HPO:curators]"} {"concept_id": "C2676505", "aliases": [], "types": ["T033"], "canonical_name": "Post-angioplasty coronary artery restenosis"} {"concept_id": "C2676973", "aliases": ["Enlarged internal auditory canal", "Bulbous internal auditory canal"], "types": ["T033"], "canonical_name": "Dilatated internal auditory canal", "definition": "The presence of a dilated inner part of external acoustic meatus. [HPO:probinson]"} {"concept_id": "C2676974", "aliases": ["Underdeveloped cochlea", "Hypoplastic cochlea"], "types": ["T033"], "canonical_name": "Hypoplasia of the cochlea", "definition": "Developmental hypoplasia of the cochlea. [HPO:probinson]"} {"concept_id": "C2677002", "aliases": [], "types": ["T033"], "canonical_name": "Portal fibrosis shown on biopsy"} {"concept_id": "C2677180", "aliases": ["Small head circumference present at birth", "Microcephaly present at birth", "Decreased head circumference present at birth", "Primary microcephaly", "Small cranium present at birth", "Congenital small skull", "Congenital small head", "Congenital microcephaly", "Small skull present at birth", "Congenital decreased head circumference", "Congenital small head circumference"], "types": ["T019"], "definition": "A congenital developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.", "canonical_name": "Small head present at birth"} {"concept_id": "C2677209", "aliases": ["Metacarpal/phalangeal joint contractures"], "types": ["T033"], "canonical_name": "Metacarpophalangeal joint contracture", "definition": "A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. [HPO:probinson]"} {"concept_id": "C2677328", "aliases": ["Hypomyelination of the brain"], "types": ["T033"], "canonical_name": "Cerebral hypomyelination", "definition": "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. [HPO:probinson]"} {"concept_id": "C2677362", "aliases": [], "types": ["T019"], "definition": "A rare lethal congenital abnormality that refers to the abnormal development of the capillaries around the alveoli in the lung parenchyma. It manifests as respiratory distress and persistent pulmonary hypertension in infancy.", "canonical_name": "Alveolar capillary dysplasia"} {"concept_id": "C2677378", "aliases": [], "types": ["T033"], "canonical_name": "Duodenal villous atrophy"} {"concept_id": "C2677485", "aliases": ["Absent sweat glands", "Lack of sweat glands"], "types": ["T033"], "canonical_name": "Aplasia of the sweat glands", "definition": "Absence of the sweat glands. [HPO:probinson]"} {"concept_id": "C2677632", "aliases": [], "types": ["T190"], "canonical_name": "Hemisacrum", "definition": "A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5. [HPO:probinson]"} {"concept_id": "C2677650", "aliases": [], "types": ["T033"], "canonical_name": "Decreased activity of mitochondrial complex I", "definition": "A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. [HPO:probinson]"} {"concept_id": "C2677768", "aliases": [], "types": ["T033"], "canonical_name": "Left superior vena cava draining to coronary sinus", "definition": "A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence. [PMID:18847480]"} {"concept_id": "C2677869", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of the hair shaft"} {"concept_id": "C2678065", "aliases": ["Myofibrillar myopathy"], "types": ["T047"], "definition": "An inherited or sporadic disorder affecting the skeletal muscles.", "canonical_name": "Myofibrillar changes"} {"concept_id": "C2678104", "aliases": [], "types": ["T047"], "definition": "A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral. [COST:neuromig, PMID:22427329, PMID:22473091]", "canonical_name": "Periventricular laminar heterotopia"} {"concept_id": "C2678303", "aliases": ["Hoarse cry"], "types": ["T033"], "canonical_name": "Hoarse cry"} {"concept_id": "C2678323", "aliases": [], "types": ["T033"], "canonical_name": "C2-C3 subluxation", "definition": "A partial dislocation of the intervertebral joint between the second and third cervical vertebrae. [HPO:probinson]"} {"concept_id": "C2678328", "aliases": ["Broad wide portion of shankbone", "Broad wide portion of shinbone"], "types": ["T033"], "canonical_name": "Broad tibial metaphyses"} {"concept_id": "C2678330", "aliases": ["Underdeveloped tooth roots", "Dental root hypoplasia", "Root dwarfism", "Short dental roots", "Rhizomicry", "Decreased length of tooth roots", "Short tooth roots", "Underdeveloped dental roots", "Dental root hypotrophy", "Decreased length of dental roots"], "types": ["T033"], "canonical_name": "Short dental root", "definition": "Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length. [HPO:probinson, PMID:31468724]"} {"concept_id": "C2678397", "aliases": ["Absent ossification/absent ulna", "Absent ulnae", "Absent ulna"], "types": ["T019"], "canonical_name": "Aplasia of the ulna", "definition": "Missing ulna bone associated with congenital failure of development. [HPO:probinson]"} {"concept_id": "C2678399", "aliases": ["Aplasia of the humerus", "Absent long bone in upper arm", "Aplastic humerus"], "types": ["T033"], "canonical_name": "Absent humerus", "definition": "Missing humerus bone associated with congenital failure of development. [HPO:probinson]"} {"concept_id": "C2699510", "aliases": ["Hand ectrodactyly", "Lobster claw hand", "Ectrodactyly of the hand", "Claw hand", "Claw hands", "Split-hand", "Claw hand deformities", "Split hand", "Cleft hand"], "types": ["T019"], "definition": "A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands. [HPO:sdoelken]", "canonical_name": "Claw-hand deformities"} {"concept_id": "C2700617", "aliases": ["Irritable"], "types": ["T041"], "definition": "Feelings of annoyance, impatience, and anger.", "canonical_name": "Irritability"} {"concept_id": "C2702529", "aliases": [], "types": ["T190"], "definition": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum. []", "canonical_name": "Duodenal arteriovenous malformation"} {"concept_id": "C2703066", "aliases": [], "types": ["T033"], "canonical_name": "Dry lips"} {"concept_id": "C2711227", "aliases": ["Liver steatosis", "Steatosis", "Fatty liver", "Fatty infiltration of liver"], "types": ["T047"], "definition": "Inflammation of the liver related to lipid accumulation in fatty liver.", "canonical_name": "Hepatic steatosis"} {"concept_id": "C2711610", "aliases": ["Abnormal brain imaging"], "types": ["T033"], "definition": "An anomaly of metabolism or structure of the brain identified by imaging. []", "canonical_name": "Brain imaging abnormality"} {"concept_id": "C2711618", "aliases": ["Stimulant addiction"], "types": ["T048"], "definition": "Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing. [ORCID:0000-0002-4095-8489, PMID:28790493]", "canonical_name": "Stimulant dependence"} {"concept_id": "C2711630", "aliases": [], "types": ["T047"], "definition": "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.", "canonical_name": "Combined immunodeficiency"} {"concept_id": "C2712334", "aliases": [], "types": ["T033"], "definition": "Inspiration of a foreign object into the airway. [HPO:probinson]", "canonical_name": "Aspiration"} {"concept_id": "C2713497", "aliases": ["Cerebral saccular aneurysm"], "types": ["T046"], "definition": "Localized distended sac affecting only part of the wall of blood vessels.", "canonical_name": "Cerebral berry aneurysm"} {"concept_id": "C2717981", "aliases": [], "types": ["T191"], "definition": "A benign adnexal neoplasm derived from cells of the terminal duct of eccrine or apocrine SWEAT GLAND lineage. They typically manifest as solitary papules and occur only in the skin but unlike in ACROSPIROMA involves the epidermis.", "canonical_name": "Poroma"} {"concept_id": "C2718128", "aliases": [], "types": ["T046"], "canonical_name": "Nasal inflammation"} {"concept_id": "C2720434", "aliases": [], "types": ["T019"], "definition": "A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.", "canonical_name": "Enlarged brain"} {"concept_id": "C2720437", "aliases": ["Elbow dislocations", "Dislocations of the elbows"], "types": ["T037"], "definition": "Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. [HPO:probinson]", "canonical_name": "Elbow dislocation"} {"concept_id": "C2721579", "aliases": [], "types": ["T047"], "canonical_name": "Hemosiderinuria", "definition": "The presence of hemosiderin in the urine. [HPO:probinson]"} {"concept_id": "C2732374", "aliases": ["Edema of the dorsum of hands", "Oedema of dorsum of hands", "Oedema of the dorsum of hands"], "types": ["T046"], "definition": "An abnormal accumulation of fluid beneath the skin on the back of the hands. [HPO:probinson]", "canonical_name": "Edema of dorsum of hands"} {"concept_id": "C2732413", "aliases": ["Postexertional fatigue", "Exercise-induced fatigue", "Postexertional malaise"], "types": ["T184"], "definition": "A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise. []", "canonical_name": "Exercise-induced malaise"} {"concept_id": "C2732838", "aliases": ["Neoplasm of the skeletal system", "Skeletal tumor"], "types": ["T191"], "definition": "A tumor (abnormal growth of tissue) of the skeleton. [HPO:probinson]", "canonical_name": "Skeletal tumour"} {"concept_id": "C2733564", "aliases": ["Full-thickness macular hole"], "types": ["T047"], "definition": "Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction. [PMID:24053995]", "canonical_name": "FTMH"} {"concept_id": "C2739810", "aliases": [], "types": ["T191"], "definition": "A melanoma of the skin characterized by single cell infiltration of the papillary dermis by atypical melanocytes, in a background of lentigo maligna changes.", "canonical_name": "Lentigo maligna melanoma"} {"concept_id": "C2748055", "aliases": [], "types": ["T047"], "definition": "A decreased concentration of insulin in the blood. []", "canonical_name": "Hypoinsulinemia"} {"concept_id": "C2748203", "aliases": ["Vitreomacular adhesion"], "types": ["T047"], "definition": "Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions. [PMID:24053995]", "canonical_name": "VMA"} {"concept_id": "C2748501", "aliases": [], "types": ["T033"], "canonical_name": "Tegumentary leishmaniasis susceptibility", "definition": "Increased susceptibility to infection by the protozan parasite of the genus Leishmania. [HPO:probinson]"} {"concept_id": "C2748518", "aliases": [], "types": ["T047"], "canonical_name": "Lumbar scoliosis"} {"concept_id": "C2748531", "aliases": [], "types": ["T033"], "definition": "Presence of excess fibrous connective tissue surrounding hair follicules. []", "canonical_name": "Perifollicular fibrosis"} {"concept_id": "C2748576", "aliases": ["Renal Na wasting", "Kidney sodium wasting", "Renal Na+ wasting"], "types": ["T033"], "canonical_name": "Renal sodium wasting", "definition": "An abnormally increased sodium concentration in the urine in the presence of hyponatremia. [Eurenomics:ewuehl]"} {"concept_id": "C2748610", "aliases": [], "types": ["T033"], "canonical_name": "Progressive extrapyramidal movement disorder"} {"concept_id": "C2748652", "aliases": ["Big face", "Large face", "Large facies"], "types": ["T033"], "canonical_name": "Large face"} {"concept_id": "C2748653", "aliases": [], "types": ["T033"], "canonical_name": "Chubby cheeks"} {"concept_id": "C2748682", "aliases": ["Short eyelashes", "Decreased length of eyelashes"], "types": ["T033"], "canonical_name": "Short eyelashes", "definition": "Decreased length of the eyelashes (subjective). [HPO:probinson]"} {"concept_id": "C2748698", "aliases": ["Portal inflammation"], "types": ["T046"], "definition": "Infiltration of portal fields by inflammatory cells. [PMID:16939061, PMID:19142989]", "canonical_name": "Hepatic portal inflammation"} {"concept_id": "C2748755", "aliases": ["Blistering with cleavage within basal keratinocytes", "Cleavage within the basal keratinocyte layer"], "types": ["T033"], "canonical_name": "Stratum basale cleavage", "definition": "Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis. []"} {"concept_id": "C2748932", "aliases": ["Slanting of the opening between the eyelids"], "types": ["T033"], "canonical_name": "Slanting of the palpebral fissure"} {"concept_id": "C2748958", "aliases": ["Susceptibility to pyogenic infection"], "types": ["T033"], "canonical_name": "Increased susceptibility to bacterial infections"} {"concept_id": "C2749161", "aliases": ["Decreased growth of paranasal sinus", "Small paranasal sinus", "Underdevelopment of paranasal sinus", "Decreased size of paranasal sinus", "Decreased volume of paranasal sinus"], "types": ["T033"], "canonical_name": "Paranasal sinus hypoplasia", "definition": "Underdevelopment of the paranasal sinuses. [HPO:probinson]"} {"concept_id": "C2749202", "aliases": ["Abnormal GI motility"], "types": ["T046"], "canonical_name": "Abnormal gastrointestinal motility", "definition": "An anomaly of the muscular contractions that propel food though the gastrointestinal tract. [HPO:probinson]"} {"concept_id": "C2749369", "aliases": ["Anterior position of the primary palate bone", "Prominent premaxilla", "Premaxillary bone excess", "Prominence of the intermaxillary bone", "Prominence of the primary palate bone", "Anterior position of the premaxilla"], "types": ["T033"], "canonical_name": "Prominence of the premaxilla", "definition": "Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla. [HPO:sdoelken, ORCID:0000-0001-5889-4463, PMID:19125436]"} {"concept_id": "C2749457", "aliases": ["Elevated urinary PGE2 level"], "types": ["T033"], "canonical_name": "Elevated urinary prostaglandin E2 level", "definition": "An increased amount of prostaglandin E2 in the urine. [PMID:24838973]"} {"concept_id": "C2749463", "aliases": ["Absence or underdevelopment of the radius bone of the arm", "Absent/small radius", "Radial aplasia/hypoplasia", "Absent/underdeveloped radius"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the radius", "definition": "A small/hypoplastic or absent/aplastic radius. [HPO:probinson]"} {"concept_id": "C2749582", "aliases": ["Dumbbell widening of long bone metaphyses", "Dumbbell-shaped long bone"], "types": ["T033"], "canonical_name": "Dumbbell-shaped long bone", "definition": "An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. [HPO:probinson]"} {"concept_id": "C2749625", "aliases": [], "types": ["T047"], "canonical_name": "Motor axonal neuropathy", "definition": "Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. [HPO:probinson]"} {"concept_id": "C2749656", "aliases": ["Folate-responsive megaloblastic anemia"], "types": ["T047"], "definition": "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate. [HPO:probinson]", "canonical_name": "Folate-responsive megaloblastic anaemia"} {"concept_id": "C2749670", "aliases": ["Multinucleate erythroblast"], "types": ["T033"], "canonical_name": "Multinucleated erythroblast", "definition": "Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis. [PMID:11994986, PMID:23744492]"} {"concept_id": "C2749675", "aliases": ["Cortical gyral simplification"], "types": ["T033"], "canonical_name": "Simplified gyral pattern", "definition": "An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. [COST:neuromig, HPO:probinson, PMID:22427329]"} {"concept_id": "C2749688", "aliases": ["Abnormal isoelectric focusing of serum transferrin", "Abnormal transferrin isoelectric focusing"], "types": ["T033"], "canonical_name": "Abnormal isoelectric focusing of serum transferrin", "definition": "Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. [HPO:probinson, PMID:22516080]"} {"concept_id": "C2749995", "aliases": ["Intermittent generalised erythematous papular rash"], "types": ["T033"], "canonical_name": "Intermittent generalized erythematous papular rash"} {"concept_id": "C2750118", "aliases": [], "types": ["T033"], "canonical_name": "Type II pneumocyte hyperplasia", "definition": "Increase in the number of type II pneumocytes. [LMU:crapp, PMID:11079017]"} {"concept_id": "C2750161", "aliases": ["Respiratory cilia have shortened or absent outer dynein arms"], "types": ["T033"], "canonical_name": "Absent/shortened outer dynein arms"} {"concept_id": "C2750481", "aliases": ["Reduced factor XIII, subunit B"], "types": ["T033"], "definition": "Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. []", "canonical_name": "Factor XIII subunit B deficiency"} {"concept_id": "C2750514", "aliases": ["Factor XIII subunit A deficiency"], "types": ["T047"], "definition": "Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. []", "canonical_name": "Reduced factor XIII, subunit A"} {"concept_id": "C2750604", "aliases": ["Wide midline cleft lip/palate", "Central cleft lip and palate", "Medial cleft lip and palate", "Midline cleft lip/palate"], "types": ["T019"], "canonical_name": "Median cleft lip and palate", "definition": "Cleft lip or palate affecting the midline region of the palate. [HPO:sdoelken]"} {"concept_id": "C2750635", "aliases": [], "types": ["T033"], "canonical_name": "Contractures of the joints of the upper limbs"} {"concept_id": "C2750654", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal liver function tests during pregnancy, resolves postpartum"} {"concept_id": "C2750913", "aliases": [], "types": ["T033"], "canonical_name": "Neuronal loss in basal ganglia", "definition": "A reduction in the number of nerve cells in the basal ganglia. [HPO:probinson, PMID:13729575]"} {"concept_id": "C2750915", "aliases": ["Gliosis in the basal ganglia"], "types": ["T033"], "canonical_name": "Basal ganglia gliosis", "definition": "Focal proliferation of glial cells in the basal ganglia. [HPO:probinson]"} {"concept_id": "C2751260", "aliases": ["Macrothrombozytopenia"], "types": ["T047"], "canonical_name": "Macrothrombocytopenia"} {"concept_id": "C2751478", "aliases": [], "types": ["T033"], "canonical_name": "Bifid thoracic vertebrae"} {"concept_id": "C2751479", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic sacral vertebrae"} {"concept_id": "C2751480", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic coccygeal vertebrae"} {"concept_id": "C2751582", "aliases": [], "types": ["T033"], "canonical_name": "Mitochondrial respiratory chain defects"} {"concept_id": "C2751584", "aliases": [], "types": ["T047"], "canonical_name": "Cerebral folate deficiency"} {"concept_id": "C2825567", "aliases": [], "types": ["T033"], "canonical_name": "Vacuum-assisted vaginal delivery"} {"concept_id": "C2826579", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular basement membrane wrinkling", "definition": "A morphologic finding indicating the presence of wrinkles in the basement membrane of the glomeruli."} {"concept_id": "C2867626", "aliases": ["bone cuboid bone"], "types": ["T037"], "canonical_name": "Fractured cuboid bone", "definition": "A partial or complete breakage of the cuboid bone. []"} {"concept_id": "C2880562", "aliases": [], "types": ["T020"], "canonical_name": "Age-related cortical cataract", "definition": "A type of age-related cataract that primarily affects the cortex of the lens. [HPO:probinson, PMID:15708105]"} {"concept_id": "C2887484", "aliases": ["ARDS"], "types": ["T047"], "definition": "Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300. [PMID:28613773]", "canonical_name": "Acute respiratory distress syndrome"} {"concept_id": "C2909036", "aliases": ["Twin to twin transfusion syndrome"], "types": ["T046"], "definition": "Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8)", "canonical_name": "Twin-to-twin transfusion"} {"concept_id": "C2919341", "aliases": ["Oedema of the dorsum of feet", "Edema of the dorsum of feet", "Edema of dorsum of feet"], "types": ["T046"], "definition": "An abnormal accumulation of fluid beneath the skin on the back of the feet. [HPO:probinson]", "canonical_name": "Oedema of dorsum of feet"} {"concept_id": "C2919441", "aliases": [], "types": ["T019"], "definition": "The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus. [MP:0011745]", "canonical_name": "Isolation of the left subclavian artery"} {"concept_id": "C2919848", "aliases": [], "types": ["T047"], "definition": "An anatomical variant of the cervical vertebra axis in which the ODONTOID PROCESS is unfused from the body of the axis.", "canonical_name": "Os odontoideum"} {"concept_id": "C2919907", "aliases": ["Cleft of gum ridge", "Notch of alveolar ridge", "Alveolar ridge cleft", "Cleft of alveolar ridge of maxilla"], "types": ["T019"], "definition": "A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. [HPO:mengelstad, HPO:probinson]", "canonical_name": "Notch of gum ridge"} {"concept_id": "C2919945", "aliases": [], "types": ["T019"], "definition": "A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.", "canonical_name": "Cerebral cavernous malformation"} {"concept_id": "C2930812", "aliases": ["Generalised elastolysis"], "types": ["T047"], "canonical_name": "Generalized elastolysis"} {"concept_id": "C2930821", "aliases": [], "types": ["T047"], "canonical_name": "Keratitis sicca"} {"concept_id": "C2930865", "aliases": ["Humeral-radial synostosis", "Fusion of upper and lower arm bones", "Humeral radial synostosis", "Synostosis of radius and humerus"], "types": ["T047"], "definition": "Osteoarticular abnormalities, highly arched palate, anorchia, and subnormal motor and mental development.", "canonical_name": "Humeroradial synostosis"} {"concept_id": "C2930902", "aliases": [], "types": ["T047"], "definition": "Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm. [PMID:25173208, PMID:30567276]", "canonical_name": "Bidirectional ventricular tachycardia"} {"concept_id": "C2930932", "aliases": [], "types": ["T019"], "canonical_name": "Congenital absence of gluteal muscles"} {"concept_id": "C2931117", "aliases": ["Foetal megacystis"], "types": ["T047"], "canonical_name": "Fetal megacystis", "definition": "Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. [HPO:probinson, PMID:20837325]"} {"concept_id": "C2931216", "aliases": ["Tetra-amelia"], "types": ["T019"], "definition": "A genetic syndrome characterized by the absence of all four limbs.", "canonical_name": "Tetraamelia"} {"concept_id": "C2931238", "aliases": [], "types": ["T047"], "definition": "A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand. [HPO:probinson]", "canonical_name": "Nonopposable triphalangeal thumb"} {"concept_id": "C2931268", "aliases": [], "types": ["T047"], "canonical_name": "Scapuloperoneal myopathy"} {"concept_id": "C2931322", "aliases": ["Reduced number of T cells", "Decreased numbers of circulating T cells", "Decrease in T cell number", "Low T cell count", "T lymphocytopenia"], "types": ["T033"], "definition": "An abnormally low count of T cells. [HPO:probinson]", "canonical_name": "Decrease in T cell count"} {"concept_id": "C2931375", "aliases": ["Temporomandibular joint fusion", "Freezing of jaw joint", "Ankylosis of temporomandibular joint"], "types": ["T047"], "definition": "Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. [ORCID:0000-0001-5208-3432]", "canonical_name": "Temporomandibular joint ankylosis"} {"concept_id": "C2931507", "aliases": ["Bifid sternum"], "types": ["T019"], "definition": "The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. [HPO:probinson]", "canonical_name": "Sternal cleft"} {"concept_id": "C2931746", "aliases": [], "types": ["T047"], "definition": "A increased concentration of sulfocysteine in the urine. [PMID:28980090, UCDenver:tjcallahan]", "canonical_name": "Sulfocysteinuria"} {"concept_id": "C2936290", "aliases": ["Femoroacetabular impingement"], "types": ["T046"], "definition": "A pathological mechanical process that can lead to hip failure. It is caused by abnormalities of the ACETABULUM and/or FEMUR combined with rigorous hip motion, leading to repetitive collisions that damage the soft tissue structures.", "canonical_name": "Femoral acetabular impingement"} {"concept_id": "C2936423", "aliases": ["Echogenic bowel", "Echogenic fetal bowel"], "types": ["T019"], "definition": "A PRENATAL ULTRASONOGRAPHY finding of excessively dense fetal bowel due to MECONIUM buildup.", "canonical_name": "Echogenic foetal bowel"} {"concept_id": "C2936476", "aliases": ["Chronic liver failure"], "types": ["T047"], "canonical_name": "Chronic hepatic failure"} {"concept_id": "C2936786", "aliases": ["Aqueduct of Sylvius stenosis", "Narrowing of aqueduct of Sylvius", "Aqueductal stenosis"], "types": ["T047"], "definition": "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. [HPO:curators]", "canonical_name": "Aqueduct stenosis"} {"concept_id": "C2936827", "aliases": [], "types": ["T047"], "definition": "A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. Location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. Focal facial dermal dysplasia (FFDD) is generally divided into four subtypes according to the location of the lesions and inheritance pattern: FFDD1 (Brauer syndrome); FFDD2 (Brauer-Setleis syndrome); FFDD3 (Setleis syndrome); and FFDD4. Mutations in TWIST2 Protein and/or CYP26C1 (see CYP26 FAMILY) are associated with FFDD3, and 4.", "canonical_name": "Focal facial dermal dysplasia"} {"concept_id": "C2937220", "aliases": ["Venous malformations"], "types": ["T019"], "definition": "A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. [HPO:probinson]", "canonical_name": "Venous malformation"} {"concept_id": "C2937228", "aliases": [], "types": ["T047"], "canonical_name": "Tunnel vision"} {"concept_id": "C2937350", "aliases": [], "types": ["T046"], "definition": "Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract. [HPO:probinson]", "canonical_name": "Abnormal ejaculation"} {"concept_id": "C2937358", "aliases": ["Intracerebral hemorrhage", "Bleeding in brain", "Cerebral hemorrhage", "Intracerebral haemorrhage"], "types": ["T046"], "definition": "Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA.", "canonical_name": "Cerebral haemorrhage"} {"concept_id": "C2937365", "aliases": ["Recurrent aphthous ulcers", "Recurrent aphthous stomatitis", "Buccal aphthous ulcers", "Recurrent canker sores"], "types": ["T047"], "definition": "Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. [HPO:probinson]", "canonical_name": "Recurrent oral aphthae"} {"concept_id": "C2938867", "aliases": [], "types": ["T033"], "canonical_name": "Increased urine urobilinogen", "definition": "An elevated concentration of urobilinogen in the urine. []"} {"concept_id": "C2938868", "aliases": [], "types": ["T033"], "canonical_name": "Decreased urine urobilinogen", "definition": "An abnormally reduced concentration of urobilinogen in the urine. []"} {"concept_id": "C2938912", "aliases": ["White matter hyperintensity"], "types": ["T046"], "canonical_name": "Hyperintensity of cerebral white matter on MRI", "definition": "A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. [PMID:15576652]"} {"concept_id": "C2938913", "aliases": [], "types": ["T047"], "canonical_name": "Distributive shock", "definition": "A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage [PMID:28238385]"} {"concept_id": "C2938983", "aliases": [], "types": ["T019"], "definition": "Abnormal, non-neoplastic cell proliferation of the CEREBRAL CORTEX confined to an area in any lobe. Focal cortical dysplasia in the temporal lobe is associated with TEMPORAL LOBE EPILEPSY.", "canonical_name": "Focal cortical dysplasia"} {"concept_id": "C2939074", "aliases": [], "types": ["T033"], "canonical_name": "Bronze skin"} {"concept_id": "C2939175", "aliases": ["Meconium ileus in neonates"], "types": ["T047"], "definition": "Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.", "canonical_name": "Meconium ileus"} {"concept_id": "C2939415", "aliases": ["Phacodonesis"], "types": ["T047"], "definition": "Tremulousness (trembling) of the lens of the eye. [HPO:probinson, PMID:5472193]", "canonical_name": "Phakodonesis"} {"concept_id": "C2939429", "aliases": ["Convergence-retraction nystagmus"], "types": ["T047"], "definition": "Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze. [PMID:27169871]", "canonical_name": "Convergence retraction nystagmus"} {"concept_id": "C2939447", "aliases": ["Impaired right ventricular function", "Right ventricular impairment"], "types": ["T047"], "definition": "Failure of proper functioning of the right ventricle, with venous engorgement, hepatic enlargement, and subcutaneous edema.", "canonical_name": "Right ventricular failure"} {"concept_id": "C2945598", "aliases": ["Dacryocytosis", "Tear-drop shaped erythrocytes"], "types": ["T033"], "definition": "Presence of teardrop-shaped red blood cells. [ORCID:0000-0001-9969-8610, PMID:21250106]", "canonical_name": "Dacryocytes"} {"concept_id": "C2945599", "aliases": [], "types": ["T080"], "definition": "Gentle or temperate in nature or degree.", "canonical_name": "Mild"} {"concept_id": "C2945606", "aliases": ["Stool soiling", "Encopresis"], "types": ["T184"], "canonical_name": "Stool holding"} {"concept_id": "C2945760", "aliases": [], "types": ["T079"], "definition": "Occurring again.", "canonical_name": "Recurrent"} {"concept_id": "C2958630", "aliases": ["Sense of doom"], "types": ["T033"], "definition": "A feeling that something life-threatening or tragic is about to occur. [PMID:18577027]", "canonical_name": "Sense of impending doom"} {"concept_id": "C2959359", "aliases": ["Abnormal ventriculoarterial connection", "Abnormal ventriculo-arterial connection"], "types": ["T019"], "definition": "An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. [PMID:15227248, PMID:18805185, PMID:24750982]", "canonical_name": "Abnormal ventriculoarterial connexion"} {"concept_id": "C2959688", "aliases": ["Abnormal atrial arrangement"], "types": ["T019"], "definition": "Abnormality of the spatial relationship of the atria to other components of the heart. [DDD:dbrown]", "canonical_name": "Abnormal location of heart atrium"} {"concept_id": "C2960760", "aliases": ["Calcification of muscles"], "types": ["T047"], "definition": "Deposition of calcium salts in muscle tissue. [HPO:probinson]", "canonical_name": "Skeletal muscle calcinosis"} {"concept_id": "C2973725", "aliases": ["Pulmonary arterial hypertension", "Pulmonary artery hypertension"], "types": ["T047"], "definition": "Increased pressure within the pulmonary arterial circulation.", "canonical_name": "Increased blood pressure in blood vessels of lungs"} {"concept_id": "C2981140", "aliases": ["Pediatric glaucoma", "Infantile glaucoma", "Childhood glaucoma", "Developmental glaucoma"], "types": ["T047"], "definition": "Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma. []", "canonical_name": "Paediatric glaucoma"} {"concept_id": "C2981150", "aliases": ["Cleft of hard and soft palate", "Cleft of palate", "Cleft hard and soft palate", "Cleft palate", "Cleft secondary palate", "Palatoschisis", "Cleft roof of mouth"], "types": ["T019"], "definition": "Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). [HPO:probinson]", "canonical_name": "Uranostaphyloschisis"} {"concept_id": "C2983640", "aliases": [], "types": ["T033"], "definition": "An electrocardiographic finding of P waves with two peaks longer in duration than normal and amplitude greater than normal. (CDISC)", "canonical_name": "Notched P wave"} {"concept_id": "C2986417", "aliases": [], "types": ["T077"], "canonical_name": "Unaffected", "definition": "This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded. []"} {"concept_id": "C2986550", "aliases": [], "types": ["T191"], "definition": "An extremely rare, WHO grade 1, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.", "canonical_name": "Pituicytoma"} {"concept_id": "C2986662", "aliases": ["Multifocal breast cancer"], "types": ["T191"], "canonical_name": "Multifocal breast carcinoma", "definition": "A breast carcinoma characterized by the presence of multiple cancerous tumors that originate from the same clone and are usually located in the same quadrant of the breast."} {"concept_id": "C2987265", "aliases": [], "types": ["T191"], "canonical_name": "Esophageal hemangioma", "definition": "A capillary or cavernous hemangioma that arises from the esophagus. The majority of cases are polypoid intraluminal lesions."} {"concept_id": "C2987488", "aliases": [], "types": ["T033"], "definition": "A morphologic finding indicating the presence of dysplastic erythroid precursors in the bone marrow.", "canonical_name": "Erythroid dysplasia"} {"concept_id": "C3148695", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary thiosulfate", "definition": "Increased concentration of thiosulfate(2-) in the urine. [HPO:probinson]"} {"concept_id": "C3148833", "aliases": ["Disproportionate short-trunk short stature, identifiable in childhood", "Short-trunk dwarfism identifiable during childhood", "Childhood-onset short-trunk short stature"], "types": ["T019"], "canonical_name": "Childhood-onset short-trunk short stature", "definition": "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood. [HPO:probinson]"} {"concept_id": "C3149083", "aliases": [], "types": ["T033"], "canonical_name": "Decreased activity of mitochondrial complex III", "definition": "A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. [HPO:probinson]"} {"concept_id": "C3149223", "aliases": ["Absent abdominal musculature"], "types": ["T033"], "canonical_name": "Aplasia of the abdominal wall musculature", "definition": "Absence of the abdominal musculature. [HPO:probinson]"} {"concept_id": "C3149265", "aliases": [], "types": ["T191"], "canonical_name": "Parotid oncocytoma"} {"concept_id": "C3149878", "aliases": [], "types": ["T033"], "canonical_name": "Posterior subluxation of radial head", "definition": "Partial dislocation of the head of the radius in the posterior direction. [HPO:curators]"} {"concept_id": "C3149879", "aliases": [], "types": ["T033"], "canonical_name": "Maldevelopment of radioulnar joint"} {"concept_id": "C3149908", "aliases": ["Short-trunk dwarfism identifiable at birth"], "types": ["T033"], "canonical_name": "Neonatal short-trunk short stature", "definition": "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. [HPO:probinson]"} {"concept_id": "C3150012", "aliases": ["Absence of mandibular incisor", "Missing lower incisor"], "types": ["T033"], "canonical_name": "Absence of lower incisor"} {"concept_id": "C3150077", "aliases": ["short stature, mild"], "types": ["T033"], "canonical_name": "Mild short stature", "definition": "A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. [DDD:hfirth]"} {"concept_id": "C3150086", "aliases": ["Absent/underdeveloped nipples", "Absent/rudimentary nipples", "Absent/small nipples", "Nipples absent or rudimentary"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the nipples"} {"concept_id": "C3150092", "aliases": [], "types": ["T033"], "canonical_name": "Absent lanugo", "definition": "Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby. [PMID:26119818, PMID:30252348]"} {"concept_id": "C3150267", "aliases": [], "types": ["T033"], "canonical_name": "Increased plasma renin activity"} {"concept_id": "C3150358", "aliases": ["Elevated prostaglandin E2"], "types": ["T033"], "canonical_name": "Increased serum prostaglandin E2", "definition": "An increased concentration of prostaglandin E2 in the blood. [HPO:probinson]"} {"concept_id": "C3150510", "aliases": ["Defective humoral immunity"], "types": ["T033"], "canonical_name": "Abnormality of humoral immunity", "definition": "An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. [HPO:probinson]"} {"concept_id": "C3150613", "aliases": ["Increased length of toes", "Long toes", "Long toe"], "types": ["T033"], "canonical_name": "Long toe", "definition": "Toes that appear disproportionately long compared to the foot. [HPO:probinson, PMID:19125433]"} {"concept_id": "C3150620", "aliases": [], "types": ["T033"], "canonical_name": "Distal upper limb muscle weakness", "definition": "Reduced strength of the distal musculature of the arms. [HPO:probinson]"} {"concept_id": "C3150833", "aliases": [], "types": ["T047"], "definition": "Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities. [ORCID:0000-0003-0986-4123]", "canonical_name": "Occult macular dystrophy"} {"concept_id": "C3150931", "aliases": [], "types": ["T033"], "canonical_name": "Steep acetabular roof", "definition": "An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance. [HPO:probinson]"} {"concept_id": "C3151082", "aliases": ["C8 deficiency"], "types": ["T033"], "canonical_name": "Decreased serum complement C8", "definition": "A reduced level of the complement component C8 in circulation. [PMID:8098723]"} {"concept_id": "C3151083", "aliases": ["Episodes of neisserial infection", "Recurrent neisseria infections"], "types": ["T033"], "canonical_name": "Recurrent Neisserial infections", "definition": "Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). [HPO:curators]"} {"concept_id": "C3151111", "aliases": ["Abnormal rod and cone electroretinogram"], "types": ["T033"], "canonical_name": "Abnormal light- and dark-adapted electroretinogram", "definition": "An abnormality of the combined rod-and-cone response on electroretinogram. [HPO:probinson]"} {"concept_id": "C3151449", "aliases": [], "types": ["T033"], "canonical_name": "Rib osteolysis", "definition": "Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib. [PMID:21932319]"} {"concept_id": "C3151450", "aliases": [], "types": ["T033"], "definition": "Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible. [PMID:21932319]", "canonical_name": "Mandibular osteolysis"} {"concept_id": "C3151495", "aliases": ["Increased vertical length of upper lip", "Long upper lip", "Elongation of upper lip", "Increased height of upper lip"], "types": ["T033"], "canonical_name": "Long upper lip", "definition": "Increased width of the upper lip. [DDD:jhurst]"} {"concept_id": "C3151520", "aliases": ["Early severe foetal akinesia sequence"], "types": ["T033"], "canonical_name": "Early severe fetal akinesia sequence"} {"concept_id": "C3151523", "aliases": ["Abnormal neck curve"], "types": ["T033"], "canonical_name": "Abnormal cervical curvature", "definition": "The presence of an abnormal curvature of the cervical vertebral column. [HPO:probinson]"} {"concept_id": "C3151525", "aliases": ["Underdeveloped heart", "Small heart"], "types": ["T033"], "canonical_name": "Hypoplastic heart"} {"concept_id": "C3151556", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal iron deposition in mitochondria"} {"concept_id": "C3151952", "aliases": ["3-methylglutaricaciduria"], "types": ["T033"], "canonical_name": "3-Methylglutaric aciduria", "definition": "An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine. [PMID:19177531]"} {"concept_id": "C3151953", "aliases": [], "types": ["T033"], "canonical_name": "Complex organic aciduria"} {"concept_id": "C3151964", "aliases": [], "types": ["T033"], "canonical_name": "Mottled pigmentation of photoexposed areas"} {"concept_id": "C3152020", "aliases": ["Progressive forearm curvature"], "types": ["T033"], "canonical_name": "Progressive forearm bowing", "definition": "Progressive bending or abnormal curvature of the forearm skeleton. [HPO:probinson]"} {"concept_id": "C3152021", "aliases": ["Partial fusion of innermost row of wrist bones"], "types": ["T033"], "canonical_name": "Partial fusion of proximal row of carpal bones"} {"concept_id": "C3152182", "aliases": ["Abnormality of the anterior chamber", "Anterior chamber anomalies", "Abnormal anterior chamber morphology"], "types": ["T019"], "definition": "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. [HPO:probinson]", "canonical_name": "Ocular anterior chamber abnormality"} {"concept_id": "C3152231", "aliases": ["GI infarctions", "Death of digestive organ tissue due to poor blood supply"], "types": ["T046"], "canonical_name": "Gastrointestinal infarctions"} {"concept_id": "C3160854", "aliases": [], "types": ["T047"], "canonical_name": "Small intestinal bacterial overgrowth", "definition": "An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml. [PMID:20572300]"} {"concept_id": "C3161192", "aliases": ["VMT"], "types": ["T047"], "canonical_name": "Vitreomacular traction", "definition": "Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad. [PMID:24053995]"} {"concept_id": "C3161330", "aliases": [], "types": ["T048"], "definition": "Profound mental retardation is defined as an intelligence quotient (IQ) below 20. [HPO:probinson]", "canonical_name": "Intellectual disability, profound"} {"concept_id": "C3163798", "aliases": ["Recurrent lower respiratory tract infections"], "types": ["T047"], "definition": "An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. [HPO:probinson]", "canonical_name": "Chronic lung infections"} {"concept_id": "C3163801", "aliases": ["Abnormal aortic arch morphology"], "types": ["T033"], "definition": "An anomaly of the arch of aorta. [HPO:probinson]", "canonical_name": "Abnormality of the aortic arch"} {"concept_id": "C3163894", "aliases": ["Diverticulum of the coronary sinus"], "types": ["T019"], "definition": "A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus. [DDD:dbrown, PMID:3138904]", "canonical_name": "Coronary sinus diverticulum"} {"concept_id": "C3164271", "aliases": [], "types": ["T047"], "canonical_name": "Aortic arch obstruction"} {"concept_id": "C3164332", "aliases": ["Absent aortic valve cusps"], "types": ["T019"], "definition": "A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva. [Fyler:1484, PMID:2274446]", "canonical_name": "Absent aortic valve"} {"concept_id": "C3164374", "aliases": ["Abnormality of the pulmonary valve", "Anomaly of the pulmonary valve"], "types": ["T190"], "definition": "Any structural abnormality of the pulmonary valve. [HPO:probinson]", "canonical_name": "Abnormal pulmonary valve morphology"} {"concept_id": "C3164377", "aliases": [], "types": ["T019"], "definition": "Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes. [HPO:probinson]", "canonical_name": "Bilateral trilobed lungs"} {"concept_id": "C3164429", "aliases": ["Atrial heterotaxy", "Atrial situs ambiguous"], "types": ["T019"], "definition": "Common atrium without defining morphologic features. [DDD:dbrown]", "canonical_name": "Atrial situs ambiguus"} {"concept_id": "C3164445", "aliases": ["Abnormal aortic valve morphology"], "types": ["T190"], "definition": "Any abnormality of the aortic valve. [HPO:curators]", "canonical_name": "Abnormality of the aortic valve"} {"concept_id": "C3164501", "aliases": [], "types": ["T033"], "definition": "A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients.", "canonical_name": "Mega cisterna magna"} {"concept_id": "C3164647", "aliases": ["Displaced lobar tracheal bronchus", "Bronchus suis"], "types": ["T019"], "definition": "Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus. [ORCID:0000-0002-4095-8489, PMID:11158647, PMID:19332762]", "canonical_name": "Pig bronchus"} {"concept_id": "C3165091", "aliases": ["Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis"], "types": ["T019"], "definition": "A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:6193702]", "canonical_name": "DORV with doubly committed VSD and pulmonary stenosis"} {"concept_id": "C3165130", "aliases": ["Subarterial ventricular septal defect", "Type 1 ventricular septal defect", "Supracristal ventricular septal defect", "Doubly committed ventricular septal defect", "Infundibular ventricular septal defect"], "types": ["T019"], "definition": "A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum. [DDD:dbrown, PMID:10798413]", "canonical_name": "Conal ventricular septal defect"} {"concept_id": "C3178782", "aliases": ["Aortic stiffness"], "types": ["T047"], "definition": "The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension. [PMID:28540066]", "canonical_name": "Increased aortic stiffness"} {"concept_id": "C3178801", "aliases": [], "types": ["T047"], "definition": "Stroke caused by lacunar infarction or other small vessel diseases of the brain. It features hemiparesis (see PARESIS), hemisensory, or hemisensory motor loss.", "canonical_name": "Lacunar stroke"} {"concept_id": "C3178806", "aliases": [], "types": ["T019"], "definition": "Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. [DDD:dbrown, PMID:3408620]", "canonical_name": "Right atrial isomerism"} {"concept_id": "C3178807", "aliases": [], "types": ["T019"], "definition": "In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest. [DDD:dbrown, PMID:3408620]", "canonical_name": "Left atrial isomerism"} {"concept_id": "C3179508", "aliases": ["Absent/hypoplastic thumbs", "Thumb aplasia/hypoplasia", "Hypoplastic to aplastic thumbs", "Absent or hypoplastic thumbs", "Absent/hypoplastic thumb", "Aplasia/hypoplasia of thumbs", "Hypoplastic/absent thumb", "Aplastic/hypoplastic thumbs", "Absent/underdeveloped thumb", "Absent/small thumb"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the thumb", "definition": "Hypoplastic/small or absent thumb. [HPO:probinson]"} {"concept_id": "C3203358", "aliases": ["Under breathing", "Slow breathing", "Hypoventilation"], "types": ["T046"], "definition": "A reduction in the amount of air entering the pulmonary alveoli.", "canonical_name": "Alveolar hypoventilation"} {"concept_id": "C3203483", "aliases": [], "types": ["T191"], "canonical_name": "Pulmonary chondroma", "definition": "A benign neoplasm composed of hyaline cartilage arising from the lung. It is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification."} {"concept_id": "C3203523", "aliases": ["Serial seizures", "Acute repetitive seizures", "Cyclical seizures", "Seizure flurries", "Crescendo seizures", "Seizure cluster"], "types": ["T047"], "definition": "A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient. [PMID:29871784, PMID:32305858]", "canonical_name": "Recurrent seizures"} {"concept_id": "C3203528", "aliases": ["Low urine magnesium levels", "Decreased urine magnesium"], "types": ["T033"], "canonical_name": "Hypomagnesiuria", "definition": "An decreased concentration of magnesium the urine. [Eurenomics:fschaefer]"} {"concept_id": "C3203607", "aliases": [], "types": ["T034"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin. [PMID:20420178, PMID:27773907, PMID:31624089, PMID:32087460, PMID:33173498]", "canonical_name": "Anti-Amphiphysin antibody"} {"concept_id": "C3264370", "aliases": [], "types": ["T046"], "definition": "Typical atrial flutter is an organised atrial tachycardia. It originates in a circuit around the tricuspid annulus limited by anatomical barriers such as the superior and inferior cava veins, the coronary sinus and crista terminalis. The wave front may rotate around this circuit counterclockwise or clockwise.", "canonical_name": "Typical atrial flutter"} {"concept_id": "C3266021", "aliases": [], "types": ["T047"], "definition": "A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted). [ORCID:0000-0003-0986-4123]", "canonical_name": "Mixed astigmatism"} {"concept_id": "C3266022", "aliases": [], "types": ["T047"], "definition": "Astigmatism in which the refractive power of the vertical meridian is the greatest. [ORCID:0000-0003-0986-4123]", "canonical_name": "Oblique astigmatism"} {"concept_id": "C3266630", "aliases": ["Compression fractured thoracic vertebra", "Wedge fractured thoracic vertebra"], "types": ["T037"], "definition": "A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. []", "canonical_name": "Compression-fractured thoracic vertebra"} {"concept_id": "C3267035", "aliases": [], "types": ["T047"], "definition": "An open sore on the surface of the skin of a finger or toe. []", "canonical_name": "Digital ulcer"} {"concept_id": "C3272802", "aliases": ["Hamartomatous polyps", "Gastrointestinal hamartoma"], "types": ["T047"], "canonical_name": "Hamartomatous polyposis", "definition": "A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps."} {"concept_id": "C3274336", "aliases": ["VUR I", "Grade I VUR"], "types": ["T047"], "canonical_name": "Grade I vesicoureteral reflux", "definition": "Vesicoureteral reflux in which there is urine reflux into the ureter only."} {"concept_id": "C3274337", "aliases": ["VUR II", "Grade II VUR"], "types": ["T047"], "canonical_name": "Grade II vesicoureteral reflux", "definition": "Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. There is no dilatation of the ureter and the calyces."} {"concept_id": "C3274338", "aliases": ["VUR III", "Grade III VUR"], "types": ["T047"], "canonical_name": "Grade III vesicoureteral reflux", "definition": "Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Mild dilatation of the ureter and the calyces is present."} {"concept_id": "C3274339", "aliases": ["Grade IV VUR", "VUR IV"], "types": ["T047"], "canonical_name": "Grade IV vesicoureteral reflux", "definition": "Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Moderate dilatation of the ureter and the calyces is present."} {"concept_id": "C3274340", "aliases": ["VUR V", "Grade V VUR"], "types": ["T047"], "canonical_name": "Grade V vesicoureteral reflux", "definition": "Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Severe tortuosity and dilatation of the ureter and the calyces are present."} {"concept_id": "C3275367", "aliases": ["Clumsy tandem walking"], "types": ["T033"], "canonical_name": "Impaired tandem gait", "definition": "Reduced ability to walk in a straight line while placing the feet heel to toe. []"} {"concept_id": "C3275417", "aliases": ["Ragged-red fibres", "Ragged-red fibers", "Ragged-red muscle fibres", "Mitochondrial proliferation in muscle tissue", "Ragged red muscle fibers", "Ragged red muscle fibres"], "types": ["T033"], "canonical_name": "Ragged-red muscle fibers", "definition": "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. [HPO:probinson, PMID:12075011, PMID:16537564]"} {"concept_id": "C3275452", "aliases": [], "types": ["T033"], "canonical_name": "Protruding upper lip"} {"concept_id": "C3275754", "aliases": [], "types": ["T033"], "canonical_name": "Upswept frontal hairline"} {"concept_id": "C3275758", "aliases": [], "types": ["T033"], "canonical_name": "Choriocapillaris atrophy", "definition": "Atrophy of the capillary lamina of choroid. [HPO:probinson]"} {"concept_id": "C3275799", "aliases": ["Spondylolysis and spondylolisthesis of l5"], "types": ["T033"], "canonical_name": "Spondylolisthesis at L5-S1", "definition": "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1). [HPO:probinson]"} {"concept_id": "C3275899", "aliases": ["Echogenic kidneys", "Increased echogenicity of the renal parenchyma"], "types": ["T033"], "canonical_name": "Hyperechogenic kidneys", "definition": "An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. [HPO:probinson, PMID:2259758, PMID:24235286]"} {"concept_id": "C3275963", "aliases": ["Abnormality of iris blood vessels"], "types": ["T033"], "canonical_name": "Abnormal iris vasculature"} {"concept_id": "C3276032", "aliases": ["Hypoplastic areolae"], "types": ["T190"], "canonical_name": "Hypoplastic areola", "definition": "Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple. [HPO:probinson]"} {"concept_id": "C3276036", "aliases": ["High frontal hairline"], "types": ["T033"], "canonical_name": "High anterior hairline", "definition": "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. [PMID:19125436]"} {"concept_id": "C3276320", "aliases": [], "types": ["T033"], "canonical_name": "Internal notch of the femoral head", "definition": "A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546. [PMID:11694546, PMID:24339047]"} {"concept_id": "C3276324", "aliases": ["Fifth metacarpal notched on ulnar side"], "types": ["T033"], "canonical_name": "Fifth metacarpal with ulnar notch", "definition": "Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger). [HPO:probinson]"} {"concept_id": "C3276441", "aliases": [], "types": ["T033"], "canonical_name": "Decreased activity of mitochondrial respiratory complexes"} {"concept_id": "C3276623", "aliases": ["Abnormal toenail development", "Dysplastic toenails"], "types": ["T033"], "canonical_name": "Toenail dysplasia", "definition": "An abnormality of the development of the toenails. [HPO:probinson]"} {"concept_id": "C3276742", "aliases": ["Duplicated calf bone"], "types": ["T033"], "canonical_name": "Fibular duplication", "definition": "Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. [HPO:probinson]"} {"concept_id": "C3276744", "aliases": ["Absent shankbone", "Aplasia of the tibia", "Absent shinbone"], "types": ["T033"], "canonical_name": "Absent tibia", "definition": "Absence of the tibia. [HPO:probinson]"} {"concept_id": "C3276746", "aliases": ["Duplication of hand bones"], "types": ["T019"], "canonical_name": "Duplication of hand bones"} {"concept_id": "C3276815", "aliases": ["Stiff skin", "Indurated skin"], "types": ["T033"], "canonical_name": "Stiff skin", "definition": "An induration (hardening) of the skin []"} {"concept_id": "C3276821", "aliases": [], "types": ["T033"], "canonical_name": "Thin glomerular basement membrane", "definition": "Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. [HPO:probinson, KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C3276997", "aliases": ["Regression of motor skills"], "types": ["T033"], "canonical_name": "Motor regression", "definition": "Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones. [PMID:27354457, PMID:31737722]"} {"concept_id": "C3277019", "aliases": ["Straight eyebrows", "Flat eyebrow", "Lack of eyebrow arch", "Horizontal eyebrow", "Straight eyebrow", "Lack of eyebrow curvature"], "types": ["T033"], "canonical_name": "Horizontal eyebrow", "definition": "An eyebrow that extends straight across the brow, without curve. [PMID:19125427]"} {"concept_id": "C3277059", "aliases": ["Congenital cataracts, bilateral"], "types": ["T047"], "definition": "Cataract in both eyes that are present at birth.", "canonical_name": "Bilateral congenital cataracts"} {"concept_id": "C3277114", "aliases": ["Relatively short spine"], "types": ["T019"], "canonical_name": "Relatively short spine"} {"concept_id": "C3277116", "aliases": ["Long tailbone"], "types": ["T033"], "canonical_name": "Long coccyx"} {"concept_id": "C3277117", "aliases": ["Human tail", "Coccygeal tail"], "types": ["T033"], "canonical_name": "Caudal appendage", "definition": "The presence of a tail-like skin appendage located adjacent to the sacrum. [HPO:probinson]"} {"concept_id": "C3277119", "aliases": ["Halberd-shaped pelvis bone"], "types": ["T033"], "canonical_name": "Halberd-shaped pelvis", "definition": "An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle). [HPO:probinson, PMID:19232556]"} {"concept_id": "C3277120", "aliases": ["Hyperplastic femoral trochanters"], "types": ["T033"], "canonical_name": "Hyperplasia of the femoral trochanters"} {"concept_id": "C3277123", "aliases": ["Dumbbell shaped wide portion of long bone", "Dumbbell shaped metaphysis", "Dumbbell shaped metaphyses"], "types": ["T033"], "canonical_name": "Dumbbell-shaped metaphyses"} {"concept_id": "C3277124", "aliases": [], "types": ["T033"], "canonical_name": "Prominent joints"} {"concept_id": "C3277126", "aliases": [], "types": ["T033"], "canonical_name": "Absent primary metaphyseal spongiosa"} {"concept_id": "C3277127", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal metaphyseal vascular invasion"} {"concept_id": "C3277184", "aliases": ["Decreased knee jerk reflex", "Decreased patellar reflexes"], "types": ["T033"], "canonical_name": "Decreased patellar reflex", "definition": "Decreased intensity of the patellar reflex (also known as the knee jerk reflex). [HPO:probinson]"} {"concept_id": "C3277187", "aliases": ["Type II muscle fibre predominance", "Type II muscle fiber predominance", "Type 2 muscle fibre predominance"], "types": ["T033"], "canonical_name": "Type 2 muscle fiber predominance", "definition": "An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). [HPO:probinson]"} {"concept_id": "C3277194", "aliases": ["Fibre type grouping"], "types": ["T033"], "canonical_name": "Fiber type grouping", "definition": "An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type. [PMID:32715519]"} {"concept_id": "C3277226", "aliases": ["Restrictive respiratory disease", "Spirometric restriction", "Restrictive respiratory insufficiency", "Restrictive deficit on pulmonary function testing", "Restrictive deficit on pulmonary function tests", "Restrictive respiratory syndrome", "Stiff lung or chest wall causing decreased lung volume"], "types": ["T033"], "canonical_name": "Restrictive ventilatory defect", "definition": "A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. [NIHR:ldaugherty, PMID:28194273]"} {"concept_id": "C3277348", "aliases": [], "types": ["T033"], "canonical_name": "Hooded eyelid", "definition": "Eyelid partly covered by skin when eyes are open. [HPO:probinson]"} {"concept_id": "C3277376", "aliases": ["Multiple mtDNA deletions"], "types": ["T033"], "canonical_name": "Multiple mitochondrial DNA deletions", "definition": "The presence of multiple deletions of mitochondrial DNA (mtDNA). [HPO:probinson]"} {"concept_id": "C3277418", "aliases": [], "types": ["T191"], "canonical_name": "Gastrointestinal hamartomatous polyps"} {"concept_id": "C3277426", "aliases": ["Lack of facial fat below the skin"], "types": ["T033"], "canonical_name": "Lack of facial subcutaneous fat"} {"concept_id": "C3277428", "aliases": [], "types": ["T047"], "canonical_name": "Severe viral infection", "definition": "An unusually severe viral infection. [PMID:21960712]"} {"concept_id": "C3277463", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal distribution of retinal arterioles and venules"} {"concept_id": "C3277464", "aliases": [], "types": ["T033"], "canonical_name": "Saccular conjunctival aneurysms"} {"concept_id": "C3277687", "aliases": ["CNS degeneration"], "types": ["T047"], "canonical_name": "Central nervous system degeneration"} {"concept_id": "C3277688", "aliases": [], "types": ["T033"], "canonical_name": "Progressive forgetfulness"} {"concept_id": "C3277693", "aliases": [], "types": ["T033"], "canonical_name": "Punctate vasculitis skin lesions"} {"concept_id": "C3277697", "aliases": [], "types": ["T033"], "canonical_name": "Decreased visual acuity, progressive"} {"concept_id": "C3277750", "aliases": ["Aplasia of the middle phalanx of the 5th finger", "Absent middle bone of pinkie finger", "Absent middle bone of pinky finger", "Absent middle bone of little finger"], "types": ["T033"], "canonical_name": "Absent middle phalanx of 5th finger", "definition": "Absence of the middle phalanx of the little (5th) finger. [HPO:curators]"} {"concept_id": "C3277753", "aliases": ["Deep-set nails"], "types": ["T033"], "canonical_name": "Deep-set nails", "definition": "Deeply placed nails. [HPO:probinson]"} {"concept_id": "C3277940", "aliases": ["Generalised hypertrichosis"], "types": ["T033"], "canonical_name": "Generalized hypertrichosis", "definition": "Generalized excessive, abnormal hairiness. [HPO:probinson]"} {"concept_id": "C3277945", "aliases": ["Gallbladder atresia"], "types": ["T033"], "canonical_name": "Atretic gallbladder", "definition": "Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia. [HPO:probinson]"} {"concept_id": "C3278004", "aliases": [], "types": ["T033"], "canonical_name": "Thymic hypoplasia or aplasia"} {"concept_id": "C3278024", "aliases": [], "types": ["T033"], "canonical_name": "Enlarged cerebellum", "definition": "An abnormally increased size of the cerebellum compared to other brain structures. [HPO:probinson]"} {"concept_id": "C3278123", "aliases": [], "types": ["T033"], "canonical_name": "Severe hydrocephalus"} {"concept_id": "C3278204", "aliases": [], "types": ["T033"], "canonical_name": "Dysmyelinating leukodystrophy"} {"concept_id": "C3278322", "aliases": [], "types": ["T033"], "canonical_name": "Cerebellar dysplasia", "definition": "Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts. [HPO:probinson, PMID:25105227, PMID:27160001]"} {"concept_id": "C3278401", "aliases": ["Hair hypopigmentation", "Loss of hair colour", "Loss of hair color"], "types": ["T033"], "canonical_name": "Hypopigmentation of hair"} {"concept_id": "C3278429", "aliases": ["Dislocated elbows on both sides"], "types": ["T033"], "canonical_name": "Bilateral elbow dislocations"} {"concept_id": "C3278433", "aliases": ["Dislocated wrist"], "types": ["T037"], "definition": "An injury of the wrist with displacement of any of the eight carpal bones. [HPO:probinson]", "canonical_name": "Dislocations of the wrists"} {"concept_id": "C3278509", "aliases": ["Spinal fusion"], "types": ["T190"], "definition": "A developmental defect leading to the union of two adjacent vertebrae. [HPO:probinson]", "canonical_name": "Vertebral fusion"} {"concept_id": "C3278626", "aliases": [], "types": ["T033"], "canonical_name": "Orotic acid crystalluria", "definition": "Formation of crystals owing to an increased concentration of orotic acid in the urine. [HPO:probinson]"} {"concept_id": "C3278636", "aliases": [], "types": ["T033"], "canonical_name": "Neonatal insulin-dependent diabetes mellitus"} {"concept_id": "C3278658", "aliases": [], "types": ["T033"], "canonical_name": "Linear hyperpigmentation"} {"concept_id": "C3278811", "aliases": ["Absent thumbs", "Thumb aplasia", "Absent thumb"], "types": ["T019"], "definition": "Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. [HPO:probinson, PMID:19125433]", "canonical_name": "Aplasia of the thumb"} {"concept_id": "C3278865", "aliases": [], "types": ["T033"], "canonical_name": "Pigment gallstones", "definition": "Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration. [HPO:probinson, PMID:12950109]"} {"concept_id": "C3278923", "aliases": ["Ventricular dilatation", "Enlarged cerebral ventricles", "Enlarged ventricles", "Enlarged ventricular system", "Dilated cerebral ventricles", "Ventriculomegaly", "Dilated ventricles", "Dilated cerebral ventricle", "Large cerebral ventricles and cisternae"], "types": ["T033"], "definition": "An increase in size of the ventricular system of the brain. [HPO:probinson]", "canonical_name": "Cerebral ventricular dilatation"} {"concept_id": "C3278975", "aliases": ["Narrowing of blood vessels in back of eye"], "types": ["T033"], "canonical_name": "Attenuation of retinal blood vessels"} {"concept_id": "C3278981", "aliases": [], "types": ["T033"], "canonical_name": "Decreased visual acuity, slowly progressive"} {"concept_id": "C3279038", "aliases": [], "types": ["T033"], "canonical_name": "Body temperature instability"} {"concept_id": "C3279090", "aliases": [], "types": ["T033"], "canonical_name": "Unilateral vertebral artery hypoplasia", "definition": "Underdevelopment of the vertebral artery on one side. [HPO:probinson]"} {"concept_id": "C3279149", "aliases": [], "types": ["T033"], "canonical_name": "Liver dysfunction, mild"} {"concept_id": "C3279191", "aliases": ["Arterial tortuosity, general"], "types": ["T033"], "definition": "Abnormal tortuous (i.e., twisted) form of arteries. [HPO:curators]", "canonical_name": "Arterial tortuosity"} {"concept_id": "C3279222", "aliases": ["Absent/small cerebellum", "Cerebellar hypoplasia/atrophy", "Absent/underdeveloped cerebellum", "Atrophy/Hypoplasia of the cerebellum", "Atrophy/Degeneration affecting the cerebellum"], "types": ["T019"], "canonical_name": "Aplasia/Hypoplasia of the cerebellum"} {"concept_id": "C3279278", "aliases": [], "types": ["T033"], "canonical_name": "Z-band streaming", "definition": "Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. [PMID:1180479, PMID:22028589]"} {"concept_id": "C3279322", "aliases": ["Joint contractures, progressive"], "types": ["T033"], "canonical_name": "Progressive flexion contractures", "definition": "Progressively worsening joint contractures. [HPO:probinson]"} {"concept_id": "C3279336", "aliases": ["Gluconeogenesis impaired"], "types": ["T033"], "canonical_name": "Impaired gluconeogenesis", "definition": "An impairment of gluconeogenesis. [HPO:gcarletti]"} {"concept_id": "C3279397", "aliases": [], "types": ["T033"], "canonical_name": "Very long chain fatty acid accumulation"} {"concept_id": "C3279407", "aliases": ["Abdominal muscular hypoplasia"], "types": ["T033"], "canonical_name": "Hypoplasia of the abdominal wall musculature", "definition": "Underdevelopment of the abdominal musculature. [HPO:probinson]"} {"concept_id": "C3279409", "aliases": [], "types": ["T033"], "canonical_name": "Distal ileal atresia"} {"concept_id": "C3279439", "aliases": ["Spontaneous abortion, recurrent"], "types": ["T046"], "canonical_name": "Recurrent spontaneous abortion", "definition": "Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. [HPO:probinson]"} {"concept_id": "C3279547", "aliases": [], "types": ["T033"], "canonical_name": "Hypergranulosis", "definition": "Hypergranulosis is an increased thickness of the stratum granulosum. []"} {"concept_id": "C3279550", "aliases": ["Cryptozoospermia"], "types": ["T047"], "definition": "A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out). [PMID:25780588]", "canonical_name": "Cryptospermia"} {"concept_id": "C3279571", "aliases": ["Ectopic posterior pituitary"], "types": ["T190"], "definition": "Atypically located posterior pituitary gland that may be associated with anterior or posterior pituitary hormone deficiencies.", "canonical_name": "Ectopic neurohypophysis"} {"concept_id": "C3279575", "aliases": ["Reticulate skin pigmentation"], "types": ["T033"], "canonical_name": "Reticulated skin pigmentation"} {"concept_id": "C3279601", "aliases": [], "types": ["T033"], "canonical_name": "Reticular pigmentation pattern"} {"concept_id": "C3279658", "aliases": [], "types": ["T033"], "canonical_name": "Glyoxalase deficiency"} {"concept_id": "C3279675", "aliases": ["Frontoparietal polymicrogyria"], "types": ["T047"], "canonical_name": "Perisylvian polymicrogyria", "definition": "Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly. [COST:neuromig, HPO:probinson, PMID:15159468, PMID:20301504]"} {"concept_id": "C3279725", "aliases": [], "types": ["T033"], "canonical_name": "Hip flexor weakness", "definition": "Reduced ability to flex the femur, that is, to pull the knee upward. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C3279980", "aliases": [], "types": ["T033"], "canonical_name": "Decreased serum thromboxane B2", "definition": "A reduction in the concentration of thromboxane B2 in the blood circulation. [PMID:6101498]"} {"concept_id": "C3280103", "aliases": ["Loss of primary podocyte processes"], "types": ["T033"], "canonical_name": "Podocyte foot process effacement", "definition": "An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier. [PMID:23235479]"} {"concept_id": "C3280131", "aliases": ["Long eyebrows", "Increased horizontal length of eyebrow", "Elongated eyebrow", "Increased transverse length of eyebrow"], "types": ["T033"], "canonical_name": "Long eyebrows", "definition": "Increased length of the hairs of the eyebrows. [HPO:probinson]"} {"concept_id": "C3280303", "aliases": ["Abnormal hair whorl", "Abnormal whorl of hair", "Abnormal hair whorls"], "types": ["T033"], "canonical_name": "Abnormal hair whorl", "definition": "An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). [HPO:probinson]"} {"concept_id": "C3280315", "aliases": [], "types": ["T047"], "definition": "Reduced level of platelet-activating factor acetylhydrolase. []", "canonical_name": "Platelet-activating factor acetylhydrolase deficiency"} {"concept_id": "C3280349", "aliases": [], "types": ["T033"], "canonical_name": "Peripheral vitreoretinal degeneration", "definition": "A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina. []"} {"concept_id": "C3280641", "aliases": ["C4b deficiency", "Complement component 4B deficiency"], "types": ["T047"], "definition": "A reduced level of the complement component C4b in circulation. [https://emedicine.medscape.com/article/135478-overview]", "canonical_name": "Decreased serum complement C4b"} {"concept_id": "C3280642", "aliases": ["Complement component 4A deficiency", "Decreased serum complement C4a"], "types": ["T033"], "definition": "A reduced level of the complement component C4a in circulation. [https://emedicine.medscape.com/article/135478-overview]", "canonical_name": "C4a deficiency"} {"concept_id": "C3280708", "aliases": [], "types": ["T033"], "canonical_name": "Upper limb dysmetria", "definition": "A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm. [HPO:mtaboada, PMID:20301629]"} {"concept_id": "C3280768", "aliases": ["Abnormality of the posterior cranial fossa", "Abnormality of the posterior fossa", "Posterior fossa anomaly"], "types": ["T190"], "canonical_name": "Abnormal posterior cranial fossa morphology", "definition": "An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. [HPO:probinson, PMID:25970099, PMID:28295149]"} {"concept_id": "C3280770", "aliases": [], "types": ["T033"], "canonical_name": "Cerebellar vermis aplasia or hypoplasia"} {"concept_id": "C3280940", "aliases": ["Unbalanced atrioventricular septal defect"], "types": ["T033"], "canonical_name": "Unbalanced atrioventricular canal defect", "definition": "Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). [DDD:dbrown, PMID:20837915]"} {"concept_id": "C3281034", "aliases": ["Multifocal onset seizures"], "types": ["T033"], "canonical_name": "Multifocal seizures", "definition": "Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). [PMID:27091239]"} {"concept_id": "C3281059", "aliases": ["Broad mandible", "Broad jaw", "Wide jaw", "Broad lower face", "Wide mandible"], "types": ["T033"], "canonical_name": "Broad jaw", "definition": "Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). [HPO:probinson, PMID:19125436]"} {"concept_id": "C3463824", "aliases": ["Myelodysplastic syndrome"], "types": ["T191"], "definition": "Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.", "canonical_name": "Myelodysplasia"} {"concept_id": "C3472165", "aliases": [], "types": ["T019"], "definition": "Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve. [DDD:dbrown, HPO:probinson]", "canonical_name": "Anomalous origin of right coronary artery from the pulmonary artery"} {"concept_id": "C3489393", "aliases": ["Hiatal hernia", "Stomach hernia"], "types": ["T047"], "definition": "STOMACH herniation located at or near the diaphragmatic opening for the ESOPHAGUS, the esophageal hiatus.", "canonical_name": "Hiatus hernia"} {"concept_id": "C3489396", "aliases": [], "types": ["T047"], "definition": "Hypogonadotropic hypogonadism not associated with a deficiency of other pituitary hormones.", "canonical_name": "Isolated hypogonadotropic hypogonadism"} {"concept_id": "C3489398", "aliases": [], "types": ["T191"], "canonical_name": "Peripheral neuroepithelioma"} {"concept_id": "C3489733", "aliases": ["Ocular motor apraxia"], "types": ["T047"], "definition": "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. [HPO:probinson, PMID:20615230]", "canonical_name": "Oculomotor apraxia"} {"concept_id": "C3494187", "aliases": [], "types": ["T047"], "canonical_name": "Factor VIII deficiency"} {"concept_id": "C3495417", "aliases": [], "types": ["T019"], "definition": "Hemifacial microsomia
", "canonical_name": "Hemifacial microsomia"} {"concept_id": "C3495558", "aliases": ["Carnosinuria"], "types": ["T033"], "definition": "An increased concentration of carnosine in the urine. [HPO:probinson]", "canonical_name": "High urine carnosine levels"} {"concept_id": "C3495559", "aliases": [], "types": ["T047"], "definition": "Arthritis in children, with onset before 16 years of age. The terms juvenile rheumatoid arthritis (JRA) and juvenile idiopathic arthritis (JIA) refer to classification systems for chronic arthritis in children. Only one subtype of juvenile arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent.", "canonical_name": "Juvenile idiopathic arthritis"} {"concept_id": "C3495676", "aliases": [], "types": ["T190"], "definition": "Congenital defects in the anus and the rectum often involving the urinary and genital tracts.", "canonical_name": "Anorectal anomaly"} {"concept_id": "C3495772", "aliases": [], "types": ["T034"], "canonical_name": "Anti-ganglioside antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides. [OHSU:jpgourdine, PMID:8027366]"} {"concept_id": "C3501843", "aliases": ["Non-medullary thyroid carcinoma", "Thyroid cancer, nonmedullary"], "types": ["T191"], "canonical_name": "Nonmedullary thyroid carcinoma"} {"concept_id": "C3501848", "aliases": ["Congenital nephrosis"], "types": ["T047"], "definition": "A rare autosomal recessive inherited nephrotic syndrome that is present in the first week of life. It manifests with edema and proteinuria and usually has a poor prognosis.", "canonical_name": "Congenital nephrotic syndrome"} {"concept_id": "C3531771", "aliases": ["Dextrotransposition of the great arteries", "D-loop transposition of the great arteries"], "types": ["T019"], "definition": "A cyanotic congenital cardiovascular abnormality characterized by the transposition of the aorta and the pulmonary artery.", "canonical_name": "D-TGA"} {"concept_id": "C3532020", "aliases": [], "types": ["T019"], "canonical_name": "Bovine arch"} {"concept_id": "C3532021", "aliases": ["Anomalous origin of the left common carotid artery from the brachiocephalic artery"], "types": ["T019"], "definition": "The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery. [PMID:18694519]", "canonical_name": "Anomalous origin of the left common carotid artery from the brachiocephalic trunk"} {"concept_id": "C3532164", "aliases": [], "types": ["T046"], "definition": "Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops. [PMID:18280793]", "canonical_name": "Fetal pleural effusion"} {"concept_id": "C3532165", "aliases": [], "types": ["T046"], "definition": "An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms. [PMID:16098320, PMID:33781717]", "canonical_name": "Fetal pericardial effusion"} {"concept_id": "C3532166", "aliases": ["Fetal choroid plexus cysts"], "types": ["T033"], "definition": "Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637). [DDD:hfirth, PMID:16100637, PMID:16809660]", "canonical_name": "Foetal choroid plexus cysts"} {"concept_id": "C3532221", "aliases": [], "types": ["T033"], "canonical_name": "Long lower third of face"} {"concept_id": "C3532933", "aliases": [], "types": ["T048"], "definition": "A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [DDD:hvfirth]", "canonical_name": "Moderate expressive language delay"} {"concept_id": "C3532934", "aliases": [], "types": ["T048"], "definition": "A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [DDD:hvfirth]", "canonical_name": "Mild expressive language delay"} {"concept_id": "C3532946", "aliases": [], "types": ["T048"], "definition": "A moderate delay in the acquisition of the ability to understand the speech of others. [DDD:hvfirth]", "canonical_name": "Moderate receptive language delay"} {"concept_id": "C3532947", "aliases": [], "types": ["T048"], "definition": "A severe delay in the acquisition of the ability to understand the speech of others. [DDD:hvfirth]", "canonical_name": "Severe receptive language delay"} {"concept_id": "C3532948", "aliases": [], "types": ["T048"], "definition": "A mild delay in the acquisition of the ability to understand the speech of others. [DDD:hvfirth]", "canonical_name": "Mild receptive language delay"} {"concept_id": "C3536714", "aliases": ["Dysplastic kidneys"], "types": ["T019"], "definition": "The presence of developmental dysplasia of the kidney. [HPO:probinson]", "canonical_name": "Renal dysplasia"} {"concept_id": "C3536715", "aliases": [], "types": ["T047"], "definition": "Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant. [ORCID:0000-0003-3411-9598, PMID:29261990]", "canonical_name": "AA amyloidosis"} {"concept_id": "C3536734", "aliases": ["Hypoplastic pelvis", "Hypoplastic pelvic bones"], "types": ["T190"], "definition": "Underdevelopment of the bony pelvis. [HPO:probinson]", "canonical_name": "Small pelvis"} {"concept_id": "C3537055", "aliases": ["Pilonidal abscess"], "types": ["T046"], "definition": "A hair-containing cyst or sinus usually in the coccygeal region. [HPO:probinson]", "canonical_name": "Sacrococcygeal fistula"} {"concept_id": "C3540764", "aliases": ["Hole in the back of the eye"], "types": ["T047"], "definition": "A congenital or acquired defect characterized by the presence of a hole in the retina.", "canonical_name": "Retinal coloboma"} {"concept_id": "C3544092", "aliases": [], "types": ["T047"], "canonical_name": "Urgency frequency syndrome"} {"concept_id": "C3544104", "aliases": ["Exposure during pregnancy"], "types": ["T037"], "canonical_name": "Pregnancy exposure", "definition": "Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants. [ORCID:0000-0002-6387-4317]"} {"concept_id": "C3549698", "aliases": [], "types": ["T033"], "canonical_name": "Coxa valga deformity"} {"concept_id": "C3549703", "aliases": ["Retinal thinning"], "types": ["T033"], "canonical_name": "Retinal thinning", "definition": "Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). [HPO:probinson]"} {"concept_id": "C3549779", "aliases": [], "types": ["T033"], "canonical_name": "Menstrual abnormalities"} {"concept_id": "C3550150", "aliases": ["Recurrent thrombosis", "Recurrent phlebitis"], "types": ["T033"], "canonical_name": "Recurrent thrombophlebitis", "definition": "Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). [HPO:probinson]"} {"concept_id": "C3550204", "aliases": [], "types": ["T033"], "canonical_name": "Mild growth deficiency"} {"concept_id": "C3550331", "aliases": [], "types": ["T033"], "canonical_name": "Aged leonine appearance"} {"concept_id": "C3550336", "aliases": ["Multiple rows of eyelashes", "Extra rows of eyelashes"], "types": ["T033"], "canonical_name": "Multiple rows of eyelashes"} {"concept_id": "C3550430", "aliases": ["Eclabion", "Outward turned lips", "Eclabium"], "types": ["T033"], "definition": "A turning outward of the lip or lips, that is, eversion of the lips. [HPO:probinson]", "canonical_name": "Everted lips"} {"concept_id": "C3550546", "aliases": [], "types": ["T033"], "canonical_name": "Depressed nasal root/bridge"} {"concept_id": "C3550640", "aliases": [], "types": ["T033"], "canonical_name": "Enamel dysplasia"} {"concept_id": "C3550658", "aliases": [], "types": ["T033"], "canonical_name": "Maternal oligohydramnios"} {"concept_id": "C3550704", "aliases": ["Abnormality of fingers or toes", "Digital anomalies", "Abnormality of digit"], "types": ["T190"], "canonical_name": "Abnormal digit morphology", "definition": "A morphological abnormality of a digit, i.e., of a finger or toe. [HPO:probinson]"} {"concept_id": "C3550873", "aliases": ["Hypoplastic calcaneus", "Small heel bone", "Underdeveloped heel bone"], "types": ["T033"], "canonical_name": "Hypoplasia of the calcaneus", "definition": "Underdevelopment of the heel bone. [HPO:probinson]"} {"concept_id": "C3551041", "aliases": ["Short ear", "Short ears"], "types": ["T033"], "canonical_name": "Short ear", "definition": "Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. [eom:2cff5ac9b681fc73, PMID:19152421]"} {"concept_id": "C3551052", "aliases": [], "types": ["T047"], "canonical_name": "Night blindness, stationary"} {"concept_id": "C3551148", "aliases": ["Absent/hypoplastic toes", "Absent/small toe", "Aplastic/hypoplastic toe phalanges", "Absent/underdeveloped toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of toe", "definition": "Absence or hypoplasia of toes. [HPO:probinson]"} {"concept_id": "C3551426", "aliases": ["Poor fingernail formation"], "types": ["T033"], "canonical_name": "Dystrophic fingernails", "definition": "The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. [HPO:probinson]"} {"concept_id": "C3551430", "aliases": [], "types": ["T033"], "canonical_name": "Sparse or absent eyebrows"} {"concept_id": "C3551431", "aliases": ["Sparse or absent eyelashes"], "types": ["T033"], "canonical_name": "Sparse or absent eyelashes"} {"concept_id": "C3551535", "aliases": [], "types": ["T033"], "canonical_name": "Mitral regurgitation, mild"} {"concept_id": "C3552099", "aliases": [], "types": ["T033"], "canonical_name": "Respiratory insufficiency due to defective ciliary clearance"} {"concept_id": "C3552156", "aliases": ["Hypoplasia of the semicircular canals", "Small semicircular canal"], "types": ["T033"], "canonical_name": "Hypoplasia of the semicircular canal", "definition": "Underdevelopment of the semicircular canal. [DDD:dfitzpatrick]"} {"concept_id": "C3552414", "aliases": ["Deviated thumb", "Displacement of the thumb", "Abnormal thumb placement"], "types": ["T033"], "canonical_name": "Deviation of the thumb", "definition": "Displacement of the thumb from its normal position. [HPO:curators]"} {"concept_id": "C3552463", "aliases": [], "types": ["T184"], "canonical_name": "Very poor growth"} {"concept_id": "C3552484", "aliases": ["Pseudoepiphyses of the thumb"], "types": ["T033"], "canonical_name": "Pseudoepiphysis of the thumb", "definition": "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb. [HPO:probinson]"} {"concept_id": "C3552526", "aliases": ["Sclerotic metaphyses", "Increased bone density in wide portion of long bone"], "types": ["T033"], "canonical_name": "Metaphyseal sclerosis", "definition": "Abnormally increased density of metaphyseal bone. [HPO:probinson]"} {"concept_id": "C3552528", "aliases": ["Generalised ichthyosis"], "types": ["T033"], "canonical_name": "Generalized ichthyosis"} {"concept_id": "C3552713", "aliases": [], "types": ["T033"], "canonical_name": "Talipes foot deformities"} {"concept_id": "C3552821", "aliases": ["Photoparoxysmal response on EEG"], "types": ["T033"], "canonical_name": "EEG with photoparoxysmal response", "definition": "EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. [HPO:probinson]"} {"concept_id": "C3552824", "aliases": [], "types": ["T033"], "canonical_name": "Enhancement of the C-reflex", "definition": "Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response. [HPO:probinson, PMID:4819909]"} {"concept_id": "C3552825", "aliases": [], "types": ["T033"], "canonical_name": "Jerk-locked premyoclonus spikes", "definition": "Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. [HPO:probinson, PMID:1464676]"} {"concept_id": "C3552843", "aliases": [], "types": ["T033"], "canonical_name": "Dystopic os odontoideum", "definition": "Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus []"} {"concept_id": "C3552853", "aliases": ["Colour vision defect, severe"], "types": ["T033"], "canonical_name": "Color vision defect, severe"} {"concept_id": "C3552908", "aliases": ["Brisk jaw jerk"], "types": ["T033"], "canonical_name": "Jaw hyperreflexia", "definition": "Increased intensity of muscle tendon reflexes in jaw. []"} {"concept_id": "C3552917", "aliases": [], "types": ["T033"], "canonical_name": "Bone marrow smear shows erythroid hyperplasia"} {"concept_id": "C3553016", "aliases": ["Wasting of the outer part of the retina"], "types": ["T047"], "canonical_name": "Peripheral retinal atrophy"} {"concept_id": "C3553044", "aliases": ["Onycholysis of fingernail", "Detachment of fingernails"], "types": ["T033"], "canonical_name": "Onycholysis of fingernails"} {"concept_id": "C3553078", "aliases": [], "types": ["T190"], "canonical_name": "Agenesis of pineal gland", "definition": "Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present. [UToronto:htrang]"} {"concept_id": "C3553084", "aliases": ["Right and left cleft palate", "Bilateral palatoschisis"], "types": ["T033"], "canonical_name": "Bilateral cleft palate", "definition": "Nonmidline cleft palate on the left and right sides. [HPO:probinson]"} {"concept_id": "C3553331", "aliases": [], "types": ["T033"], "canonical_name": "Subcortical heterotopia", "definition": "A form of heterotopia were the mislocalized gray matter is located deep within the white matter. [COST:neuromig]"} {"concept_id": "C3553368", "aliases": ["Restricted hip extension", "Limited hip extension"], "types": ["T033"], "canonical_name": "Limited hip extension", "definition": "Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. [HPO:probinson]"} {"concept_id": "C3553395", "aliases": [], "types": ["T033"], "canonical_name": "Microcolon on contrast enema"} {"concept_id": "C3553397", "aliases": [], "types": ["T034"], "canonical_name": "Meconium ileus on ultrasonography"} {"concept_id": "C3553450", "aliases": ["Global developmental delay, profound"], "types": ["T047"], "canonical_name": "Profound global developmental delay", "definition": "A profound delay in the achievement of motor or mental milestones in the domains of development of a child. [DDD:hvfirth]"} {"concept_id": "C3553471", "aliases": ["Upturned mouth", "Upturned corners of mouth", "Upturned oral commisures"], "types": ["T033"], "canonical_name": "Upturned corners of mouth", "definition": "Oral commissures positioned superior to the midline labial fissure. [PMID:19125428]"} {"concept_id": "C3553677", "aliases": [], "types": ["T190"], "canonical_name": "Midline liver", "definition": "Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach. [PMID:12432114]"} {"concept_id": "C3553696", "aliases": [], "types": ["T033"], "canonical_name": "Decreased visual acuity, nonprogressive"} {"concept_id": "C3553722", "aliases": ["Increased glomerular mesangial matrix"], "types": ["T033"], "canonical_name": "Mesangial matrix expansion", "definition": "Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. [PMID:32866505]"} {"concept_id": "C3553754", "aliases": ["Absent toes", "Aplasia of the toes", "Aplasia of toe", "Absent toe"], "types": ["T019"], "canonical_name": "Absent toe", "definition": "Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. [HPO:probinson]"} {"concept_id": "C3553764", "aliases": ["Joints move beyond expected range of motion"], "types": ["T033"], "canonical_name": "Joint hyperflexibility", "definition": "Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles. [https://orcid.org/0000-0002-6548-5200]"} {"concept_id": "C3553900", "aliases": ["Wormian bones", "Intra sutural bones", "Extra bones within cranial sutures", "Intrasutural bones"], "types": ["T019"], "definition": "The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. [HPO:probinson]", "canonical_name": "Islands of bone within cranial sutures"} {"concept_id": "C3554113", "aliases": ["Thin toenail", "Thin toenails"], "types": ["T190"], "canonical_name": "Thin toenail", "definition": "Toenail that appears thin when viewed on end. [HPO:probinson, PMID:19125433]"} {"concept_id": "C3554344", "aliases": [], "types": ["T047"], "canonical_name": "Phosphohydroxylysinuria", "definition": "An elevated concentration of phosphohydroxylysine in the urine. [HPO:probinson, PMID:23242558]"} {"concept_id": "C3554388", "aliases": ["Reduced O-mannosyl glycans on alpha-dystroglycan"], "types": ["T033"], "canonical_name": "Decreased O-mannosyl glycans on alpha-dystroglycan", "definition": "Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix. [PMID:21930648]"} {"concept_id": "C3554430", "aliases": ["Low nasal nitric oxide level"], "types": ["T033"], "canonical_name": "Decreased nasal nitric oxide", "definition": "Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. [PMID:28481653]"} {"concept_id": "C3554538", "aliases": [], "types": ["T033"], "canonical_name": "Persistent lactic acidosis", "definition": "A continuous form of lactic acidemia. [HPO:probinson]"} {"concept_id": "C3554552", "aliases": [], "types": ["T033"], "canonical_name": "Persistent EBV viremia", "definition": "Persistent presence of Epstein-Barr virus in the blood. []"} {"concept_id": "C3554568", "aliases": [], "types": ["T033"], "canonical_name": "Young adult onset", "definition": "Onset of disease at the age of between 16 and 40 years. [DDD:hfirth]"} {"concept_id": "C3554587", "aliases": ["Telangiectasia on the cheeks"], "types": ["T033"], "canonical_name": "Telangiectases of the cheeks", "definition": "Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. [HPO:curators]"} {"concept_id": "C3554612", "aliases": [], "types": ["T190"], "canonical_name": "Contracture of the proximal interphalangeal joint of the 5th finger", "definition": "Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. [HPO:probinson]"} {"concept_id": "C3554614", "aliases": ["Ulnar deviation of middle fingers"], "types": ["T033"], "canonical_name": "Ulnar deviation of the 3rd finger", "definition": "Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger). [HPO:sdoelken]"} {"concept_id": "C3554618", "aliases": ["Wide wrist bones", "Wide carpal bones"], "types": ["T033"], "canonical_name": "Broad carpal bones"} {"concept_id": "C3554669", "aliases": ["Osteosclerosis of the clavicle", "Osteosclerosis of the clavicles", "Increased bone density in collarbone"], "types": ["T033"], "canonical_name": "Clavicular sclerosis", "definition": "An increase in bone density within the clavicle. [HPO:probinson]"} {"concept_id": "C3554721", "aliases": ["Morning glory disc anomaly", "Morning glory optic disc"], "types": ["T019"], "canonical_name": "Morning glory anomaly", "definition": "An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic. []"} {"concept_id": "C3554724", "aliases": ["Complete duplication of thumb bones", "Digitalization of thumbs", "Digitalization of thumb", "Complete duplication of the phalanges of the thumb"], "types": ["T033"], "canonical_name": "Complete duplication of thumb phalanx", "definition": "A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:probinson]"} {"concept_id": "C3554793", "aliases": [], "types": ["T033"], "canonical_name": "Loose anagen hair"} {"concept_id": "C3639956", "aliases": [], "types": ["T033"], "canonical_name": "Functional intestinal obstruction", "definition": "The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular."} {"concept_id": "C3640024", "aliases": ["Abnormally small eyeball on one side"], "types": ["T019"], "canonical_name": "Unilateral microphthalmos", "definition": "A congenital abnormality characterized by the presence of one abnormally small eye globe and one normally sized eye globe."} {"concept_id": "C3647115", "aliases": [], "types": ["T033"], "canonical_name": "Hyperpigmented papule", "definition": "A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin. []"} {"concept_id": "C3647360", "aliases": [], "types": ["T033"], "canonical_name": "Hyperpigmented nodule", "definition": "A nodule of the skin that exhibits an increased amount of pigmentation. []"} {"concept_id": "C3662124", "aliases": [], "types": ["T019"], "definition": "The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna. [PMID:25970099]", "canonical_name": "Blake's pouch cyst"} {"concept_id": "C3665342", "aliases": ["Cone dystrophy", "Progressive cone dystrophy"], "types": ["T047"], "definition": "Inherited progressive cone degeneration. []", "canonical_name": "Progressive cone degeneration"} {"concept_id": "C3665347", "aliases": ["Impaired vision"], "types": ["T033"], "definition": "Sight that is impaired.", "canonical_name": "Visual impairment"} {"concept_id": "C3665349", "aliases": ["Secondary hypothyroidism", "TSH deficient hypothyroidism", "Thyrotropin deficiency", "Thyroid stimulating hormone deficiency", "Low thyroid gland function due to abnormal pituitary gland"], "types": ["T047"], "definition": "Hypothyroidism due to dysfunction of the pituitary gland, which results in inadequate secretion of thyroid-stimulating hormone (thyrotropin).", "canonical_name": "Pituitary hypothyroidism"} {"concept_id": "C3665386", "aliases": ["Visual loss", "Vision loss"], "types": ["T033"], "definition": "Disturbance of eyesight.", "canonical_name": "Loss of vision"} {"concept_id": "C3665596", "aliases": ["Verrucae"], "types": ["T047"], "definition": "Benign epidermal proliferations or tumors; some are viral in origin.", "canonical_name": "Warts"} {"concept_id": "C3665628", "aliases": ["Mottled tooth enamel", "Decreased enamel mineralisation", "Poorly mineralized tooth enamel", "Hypomineralization of enamel"], "types": ["T047"], "definition": "A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. [HPO:probinson, PMID:31468724]", "canonical_name": "Enamel hypomineralization"} {"concept_id": "C3665728", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal optical coherence tomography"} {"concept_id": "C3665783", "aliases": [], "types": ["T047"], "definition": "A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism). [PMID:28785436]", "canonical_name": "Obstructive shock"} {"concept_id": "C3665873", "aliases": [], "types": ["T033"], "canonical_name": "Increased intestinal transit time", "definition": "An increase in the length of time required for food to pass through the intestines. [PMID:22206545]"} {"concept_id": "C3665983", "aliases": [], "types": ["T048"], "canonical_name": "Oral aversion", "definition": "Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing). [ORCID:0000-0001-5208-3432]"} {"concept_id": "C3669021", "aliases": [], "types": ["T033"], "definition": "An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma). [PMID:18195376]", "canonical_name": "Air bronchogram"} {"concept_id": "C3670629", "aliases": [], "types": ["T047"], "definition": "A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei. []", "canonical_name": "Orthokeratotic hyperkeratosis"} {"concept_id": "C3670683", "aliases": [], "types": ["T046"], "definition": "Excessive formation of fibrous bands of scar tissue in between muscle fibers. [PMID:21798099]", "canonical_name": "Skeletal muscle fibrosis"} {"concept_id": "C3670700", "aliases": ["Atrophy of masseter muscle", "Atrophied masseter muscle"], "types": ["T033"], "canonical_name": "Masseter muscle atrophy"} {"concept_id": "C3671015", "aliases": ["Myocardial fibre disarray", "Myocardial fiber disarray"], "types": ["T033"], "definition": "A nonparallel arrangement of cardiac myocytes. [PMID:7890275]", "canonical_name": "Myofiber disarray"} {"concept_id": "C3671554", "aliases": ["Mucoid diarrhea", "Mucous diarrhea"], "types": ["T184"], "definition": "Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes. [PMID:31869107]", "canonical_name": "Mucous diarrhoea"} {"concept_id": "C3671880", "aliases": ["Ca phosphate urolithiasis", "Ca phosphate nephrolithiasis", "Calcium phosphate urolithiasis", "Ca2+ phosphate nephrolitiasis", "Ca2+ phosphate urolithiasis"], "types": ["T047"], "definition": "Urolithiasis in which the composition of the stones is predominantly calcium phosphate.", "canonical_name": "Calcium phosphate nephrolithiasis"} {"concept_id": "C3671887", "aliases": ["Increased urinary sodium"], "types": ["T047"], "definition": "An increased concentration of sodium(1+) in the urine. [Eurenomics:ewuehl]", "canonical_name": "Hypernatriuria"} {"concept_id": "C3672035", "aliases": ["Liver copper accumulation"], "types": ["T033"], "definition": "An anomalous build up of copper (Cu) in the liver. []", "canonical_name": "Copper accumulation in liver"} {"concept_id": "C3672440", "aliases": [], "types": ["T047"], "canonical_name": "Bile duct hyperplasia"} {"concept_id": "C3686778", "aliases": [], "types": ["T047"], "definition": "Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia. [HPO:probinson]", "canonical_name": "Biliary hyperplasia"} {"concept_id": "C3693260", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urine output", "definition": "An abnormal amount of urine production. [Eurenomics:ewuehl]"} {"concept_id": "C3693299", "aliases": ["Wide uvula"], "types": ["T033"], "canonical_name": "Broad uvula", "definition": "Increased width of the uvula (subjective finding). [PMID:19125428]"} {"concept_id": "C3694685", "aliases": ["bone epiphysis of femur"], "types": ["T037"], "canonical_name": "Fractured epiphysis of femur", "definition": "A partial or complete breakage of the epiphysis of femur. []"} {"concept_id": "C3696376", "aliases": ["3-Methylglutaconicaciduria"], "types": ["T047"], "definition": "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.", "canonical_name": "3-Methylglutaconic aciduria"} {"concept_id": "C3696954", "aliases": ["Precapillary pulmonary hypertension"], "types": ["T047"], "definition": "Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). [ORCID:0000-0002-4095-8489, PMID:30545968]", "canonical_name": "Pre-capillary pulmonary hypertension"} {"concept_id": "C3697248", "aliases": ["Vertical deficiency of chin", "Decreased height of chin", "Vertical hypoplasia of chin", "Short chin"], "types": ["T033"], "definition": "Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. [HPO:probinson, PMID:19125436]", "canonical_name": "Short lower third of face"} {"concept_id": "C3697670", "aliases": [], "types": ["T047"], "definition": "Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia. [HPO:curators]", "canonical_name": "Spinal myoclonus"} {"concept_id": "C3698124", "aliases": ["Phantom taste"], "types": ["T047"], "definition": "A common taste disorder where there is a lingering, often unpleasant taste despite the absence of any stimulus to initiate the distorted taste.", "canonical_name": "Phantageusia"} {"concept_id": "C3698239", "aliases": [], "types": ["T047"], "definition": "Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic). [PMID:21339907]", "canonical_name": "Cortical myoclonus"} {"concept_id": "C3711645", "aliases": [], "types": ["T047"], "definition": "An inherited condition caused by mutation(s) in the HADHA gene, encoding trifunctional enzyme subunit alpha, mitochondrial. It is characterized by hypoglycemia, hypotonia, neuropathy, cardiomyopathy, pigmentary retinopathy and may be associated with sudden death.", "canonical_name": "Long chain 3 hydroxyacyl coA dehydrogenase deficiency"} {"concept_id": "C3714497", "aliases": [], "types": ["T047"], "definition": "Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.", "canonical_name": "Reactive airway disease"} {"concept_id": "C3714563", "aliases": [], "types": ["T031"], "definition": "A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. [PMID:26079824]", "canonical_name": "Fatty casts"} {"concept_id": "C3714581", "aliases": ["Multicystic kidney dysplasia", "Multicystic dysplastic kidney", "Multicystic kidneys"], "types": ["T047"], "definition": "A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY.", "canonical_name": "Multicystic renal dysplasia"} {"concept_id": "C3714644", "aliases": [], "types": ["T191"], "definition": "Tumors or cancer of the THYMUS GLAND.", "canonical_name": "Neoplasm of the thymus"} {"concept_id": "C3714745", "aliases": ["Intestinal malabsorption"], "types": ["T033"], "definition": "Inadequate absorption of nutrients in the small intestine.", "canonical_name": "Malabsorption"} {"concept_id": "C3714756", "aliases": ["Mental retardation, nonspecific", "Intellectual disability", "Nonprogressive intellectual disability"], "types": ["T048"], "definition": "Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)", "canonical_name": "Nonprogressive mental retardation"} {"concept_id": "C3714757", "aliases": ["Juvenile RA", "Juvenile rheumatoid arthritis"], "types": ["T047"], "definition": "An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.", "canonical_name": "Rheumatoid arthritis, juvenile"} {"concept_id": "C3714772", "aliases": ["Hyperthermia, episodic", "Episodic fever", "Increased body temperature, episodic", "Recurrent fever"], "types": ["T184"], "definition": "Periodic (episodic or recurrent) bouts of fever. [HPO:probinson]", "canonical_name": "Intermittent fever"} {"concept_id": "C3804986", "aliases": [], "types": ["T019"], "canonical_name": "Aplasia of paranasal sinuses"} {"concept_id": "C3804991", "aliases": ["Benign GU tract neoplasm", "Benign genitourinary tract tumour", "Benign genitourinary tract tumor"], "types": ["T191"], "canonical_name": "Benign genitourinary tract neoplasm", "definition": "A non-malignant neoplasm of the genitourinary system. [HPO:probinson]"} {"concept_id": "C3805014", "aliases": ["Abnormal body mass index", "Abnormal BMI"], "types": ["T033"], "canonical_name": "Abnormality of body mass index", "definition": "Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages. []"} {"concept_id": "C3805050", "aliases": [], "types": ["T033"], "canonical_name": "Decreased intestinal transit time", "definition": "A reduction in the length of time required for food to pass through the intestines. [PMID:22206545]"} {"concept_id": "C3805083", "aliases": [], "types": ["T047"], "canonical_name": "Portal fibrosis", "definition": "Fibroblast proliferation and fiber expansion from the portal areas to the lobule. [HPO:probinson]"} {"concept_id": "C3805089", "aliases": [], "types": ["T047"], "definition": "Increased degradation of fibrin, associated with clot instability and bleeding []", "canonical_name": "Hyperfibrinolysis"} {"concept_id": "C3805325", "aliases": ["S-shaped calf bone"], "types": ["T033"], "canonical_name": "Serpentine fibula", "definition": "Elongated curved (S-shaped) fibulae. [PMID:21712856, PMID:3409932]"} {"concept_id": "C3805337", "aliases": [], "types": ["T033"], "canonical_name": "Subcutaneous ossification", "definition": "Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation. [PMID:29059381]"} {"concept_id": "C3805420", "aliases": [], "types": ["T033"], "canonical_name": "Popliteal pterygium", "definition": "A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). [HPO:probinson]"} {"concept_id": "C3805450", "aliases": ["Underdeveloped calf muscles", "Hypoplastic calf muscles"], "types": ["T033"], "canonical_name": "Calf muscle hypoplasia", "definition": "Underdevelopment of the muscuklature of the calf. [HPO:probinson]"} {"concept_id": "C3805574", "aliases": ["Recurrent fractures", "Increased fractures"], "types": ["T033"], "canonical_name": "Increased fracture rate"} {"concept_id": "C3805639", "aliases": ["Generalized increase in muscle cell size", "Generalised muscle hypertrophy", "Generalised increase in muscle cell size"], "types": ["T033"], "canonical_name": "Generalized muscle hypertrophy", "definition": "Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution. [HPO:curators]"} {"concept_id": "C3805692", "aliases": [], "types": ["T033"], "canonical_name": "Hyperpigmented nevi and streak"} {"concept_id": "C3805715", "aliases": ["Short stepped shuffling walk"], "types": ["T033"], "canonical_name": "Short stepped shuffling gait"} {"concept_id": "C3805726", "aliases": [], "types": ["T033"], "canonical_name": "Medial rotation of the medial malleolus"} {"concept_id": "C3805764", "aliases": ["Absent biceps"], "types": ["T033"], "canonical_name": "Biceps aplasia", "definition": "Absence of the biceps muscle. [HPO:curators]"} {"concept_id": "C3805765", "aliases": ["Absent quads"], "types": ["T033"], "canonical_name": "Quadriceps aplasia", "definition": "Absence of the quadriceps muscle. [HPO:curators]"} {"concept_id": "C3805839", "aliases": [], "types": ["T033"], "canonical_name": "Central hypoventilation"} {"concept_id": "C3805845", "aliases": [], "types": ["T047"], "canonical_name": "Cutaneous lichen amyloidosis", "definition": "Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs. [PMID:28342017, PMID:29630157]"} {"concept_id": "C3805860", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplasia of latissimus dorsi muscle", "definition": "Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula. [HPO:curators]"} {"concept_id": "C3805861", "aliases": [], "types": ["T033"], "canonical_name": "Unilateral oligodactyly"} {"concept_id": "C3805877", "aliases": ["Increased pigmentation in sun-exposed areas", "Hyperpigmentation of exposed areas"], "types": ["T033"], "canonical_name": "Hyperpigmentation in sun-exposed areas"} {"concept_id": "C3805887", "aliases": ["Generalised osteoporosis with pathologic fractures"], "types": ["T047"], "canonical_name": "Generalized osteoporosis with pathologic fractures"} {"concept_id": "C3805899", "aliases": [], "types": ["T033"], "canonical_name": "Pigment deposition in the trabecular meshwork", "definition": "Accumulation of abnormal amounts of pigment within the trabecular meshwork. [HPO:probinson]"} {"concept_id": "C3805901", "aliases": [], "types": ["T033"], "canonical_name": "Asymmetry of intraocular pressure", "definition": "A difference in the amount of intraocular pressure in the right and left eye. [HPO:probinson]"} {"concept_id": "C3805911", "aliases": ["Increased cup disc ratio", "Elevated cup to disc ratio"], "types": ["T033"], "canonical_name": "Increased cup-to-disc ratio", "definition": "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. [HPO:probinson, PMID:23557744]"} {"concept_id": "C3805917", "aliases": ["Elevated lung artery pressure", "increased pulmonary artery pressure"], "types": ["T033"], "canonical_name": "Elevated pulmonary artery pressure", "definition": "An abnormally elevated blood pressure in the circulation of the pulmonary artery. [HPO:probinson]"} {"concept_id": "C3805919", "aliases": ["Recurrent bleeding into lungs", "Recurrent pulmonary hemorrhage", "Recurrent intrapulmonary haemorrhage", "Recurrent pulmonary haemorrhage"], "types": ["T046"], "canonical_name": "Recurrent intrapulmonary hemorrhage", "definition": "A recurrent hemorrhage occurring within the lung. [HPO:gcarletti]"} {"concept_id": "C3805920", "aliases": [], "types": ["T033"], "canonical_name": "Transient pulmonary infiltrates"} {"concept_id": "C3805969", "aliases": [], "types": ["T033"], "canonical_name": "Scapular muscle atrophy", "definition": "Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. [HPO:curators]"} {"concept_id": "C3805994", "aliases": [], "types": ["T033"], "canonical_name": "Anteroposteriorly shortened larynx", "definition": "Abnormal shortening of the larynx in the anteroposterior (front to back) axis. [HPO:probinson]"} {"concept_id": "C3806125", "aliases": [], "types": ["T033"], "canonical_name": "Increased red cell hemolysis by shear stress"} {"concept_id": "C3806178", "aliases": ["Spotty decreased pigmentation", "Patchy depigmentation", "Patchy hypopigmentation"], "types": ["T033"], "canonical_name": "Spotty hypopigmentation"} {"concept_id": "C3806179", "aliases": ["Spotty increased pigmentation", "Patchy hyperpigmentation"], "types": ["T033"], "canonical_name": "Spotty hyperpigmentation"} {"concept_id": "C3806216", "aliases": ["Impaired breathing in newborn"], "types": ["T033"], "canonical_name": "Neonatal breathing dysregulation"} {"concept_id": "C3806218", "aliases": ["Hyperpnea, episodic"], "types": ["T033"], "canonical_name": "Episodic tachypnea", "definition": "Episodes of very rapid breathing. [HPO:probinson]"} {"concept_id": "C3806221", "aliases": ["Macromelanosomes"], "types": ["T033"], "canonical_name": "Giant melanosomes in melanocytes", "definition": "The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. [HPO:probinson]"} {"concept_id": "C3806226", "aliases": [], "types": ["T033"], "canonical_name": "Ectopic calcification", "definition": "Deposition of calcium salts in a tissue or location in which calcification does not normally occur. [HPO:probinson]"} {"concept_id": "C3806280", "aliases": [], "types": ["T033"], "canonical_name": "Laryngotracheal stenosis"} {"concept_id": "C3806283", "aliases": [], "types": ["T033"], "canonical_name": "Frequent fractures"} {"concept_id": "C3806285", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent infections due to aspiration", "definition": "Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration. []"} {"concept_id": "C3806286", "aliases": ["Decreased sensitivity to hypoxaemia", "Decreased sensitivity to hypoxemia"], "types": ["T033"], "canonical_name": "Decreased sensitivity to hypoxemia", "definition": "Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. [HPO:probinson]"} {"concept_id": "C3806301", "aliases": ["Cicatricial alopecia", "Hair loss on scalp from scarring condition"], "types": ["T033"], "canonical_name": "Scarring alopecia of scalp"} {"concept_id": "C3806306", "aliases": [], "types": ["T033"], "canonical_name": "Periarticular subcutaneous nodules", "definition": "Subcutaneous nodules that are located in the vicinity of joints. [HPO:probinson]"} {"concept_id": "C3806347", "aliases": ["Elevated blood homocystine", "Homocystinemia"], "types": ["T033"], "definition": "An increased concentration of homocystine in the blood. [HPO:gcarletti]", "canonical_name": "Hyperhomocystinemia"} {"concept_id": "C3806403", "aliases": ["Electrical status epilepticus during slow-wave sleep", "CSWS"], "types": ["T033"], "definition": "Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. [PMID:1918335, PMID:28654799]", "canonical_name": "Continuous spike and waves during slow sleep"} {"concept_id": "C3806415", "aliases": [], "types": ["T033"], "canonical_name": "Numerous congenital melanocytic nevi"} {"concept_id": "C3806428", "aliases": [], "types": ["T033"], "canonical_name": "Progressive vitiligo"} {"concept_id": "C3806442", "aliases": [], "types": ["T033"], "canonical_name": "Myoclonic spasms"} {"concept_id": "C3806443", "aliases": [], "types": ["T033"], "canonical_name": "Puffy cheeks"} {"concept_id": "C3806447", "aliases": ["Increased urinary taurine"], "types": ["T033"], "canonical_name": "Increased urinary taurine", "definition": "Increased concentration of taurine in the urine. [HPO:probinson]"} {"concept_id": "C3806462", "aliases": ["Episodic apnea induced by febrile illness or stress"], "types": ["T033"], "canonical_name": "Apneic episodes precipitated by illness, fatigue, stress", "definition": "Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress. [HPO:curators]"} {"concept_id": "C3806467", "aliases": ["Respiratory failure due to muscle weakness", "Respiratory muscle weakness", "Respiratory insufficiency due to muscle weakness", "Decreased lung function due to weak breathing muscles", "Decreased respiratory function due to muscle weakness"], "types": ["T033"], "canonical_name": "Respiratory distress due to muscle weakness"} {"concept_id": "C3806482", "aliases": ["Susceptibility to respiratory infections", "Multiple respiratory infections", "Frequent respiratory infections", "Recurrent respiratory infections", "respiratory infections, recurrent"], "types": ["T033"], "canonical_name": "Recurrent respiratory infections", "definition": "An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. [HPO:probinson]"} {"concept_id": "C3806510", "aliases": ["Horizontal ribs"], "types": ["T033"], "canonical_name": "Horizontal ribs", "definition": "A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. [HPO:probinson]"} {"concept_id": "C3806511", "aliases": ["Squaring of the inferior scapulae", "Squaring of the scapula"], "types": ["T033"], "canonical_name": "Horizontal inferior border of scapula", "definition": "A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape). [PMID:24706940]"} {"concept_id": "C3806516", "aliases": ["Disproportionate shortening of the shinbone", "Marked shortening of tibia", "Disproportionate shortening of the shankbone"], "types": ["T033"], "canonical_name": "Disproportionate shortening of the tibia"} {"concept_id": "C3806533", "aliases": ["Medial deviation of toes"], "types": ["T190"], "canonical_name": "Tibial deviation of toes"} {"concept_id": "C3806554", "aliases": [], "types": ["T047"], "canonical_name": "Dysseborrheic dermatitis"} {"concept_id": "C3806583", "aliases": ["Poor bladder function"], "types": ["T033"], "canonical_name": "Functional abnormality of the bladder", "definition": "Dysfunction of the urinary bladder. [HPO:probinson]"} {"concept_id": "C3806604", "aliases": ["Hypotonia, axial, in infancy"], "types": ["T033"], "canonical_name": "Infantile axial hypotonia", "definition": "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy. [HPO:curators]"} {"concept_id": "C3806616", "aliases": [], "types": ["T033"], "canonical_name": "Macular hypopigmented whorls, streaks, and patches"} {"concept_id": "C3806644", "aliases": [], "types": ["T033"], "canonical_name": "Lower limb muscle hypotrophy"} {"concept_id": "C3806660", "aliases": [], "types": ["T047"], "canonical_name": "Enteroviral dermatomyositis syndrome"} {"concept_id": "C3806786", "aliases": [], "types": ["T033"], "canonical_name": "Tracheobronchial leiomyomatosis"} {"concept_id": "C3806961", "aliases": ["Giant SEPS"], "types": ["T033"], "canonical_name": "Giant somatosensory evoked potentials", "definition": "An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials. [HPO:curators]"} {"concept_id": "C3807025", "aliases": [], "types": ["T033"], "canonical_name": "Intermittent episodes of respiratory insufficiency due to muscle weakness"} {"concept_id": "C3807131", "aliases": ["Loss of definition of corticomedullary differentiation"], "types": ["T033"], "canonical_name": "Reduced renal corticomedullary differentiation", "definition": "Reduced differentiation between renal cortex and medulla on diagnostic imaging. [HPO:probinson]"} {"concept_id": "C3807306", "aliases": ["Rhabdomyolysis, acute"], "types": ["T033"], "canonical_name": "Acute rhabdomyolysis", "definition": "An acute form of rhabdomyolysis. [HPO:probinson]"} {"concept_id": "C3807591", "aliases": [], "types": ["T033"], "canonical_name": "Widening of cervical spinal canal"} {"concept_id": "C3807726", "aliases": [], "types": ["T184"], "canonical_name": "Recurrent coughing spasms", "definition": "Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing. []"} {"concept_id": "C3807980", "aliases": [], "types": ["T033"], "canonical_name": "Apneic episodes in infancy", "definition": "Recurrent episodes of apnea occurring during infancy. [HPO:curators]"} {"concept_id": "C3808022", "aliases": [], "types": ["T033"], "canonical_name": "Episodic abdominal pain", "definition": "An intermittent form of abdominal pain. [HPO:probinson]"} {"concept_id": "C3808039", "aliases": ["Nemaline rods"], "types": ["T033"], "canonical_name": "Nemaline bodies", "definition": "Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. [HPO:curators, PMID:11333380]"} {"concept_id": "C3808046", "aliases": [], "types": ["T033"], "canonical_name": "Breathing dysregulation"} {"concept_id": "C3808249", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of the optic disc", "definition": "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. [HPO:probinson]"} {"concept_id": "C3808270", "aliases": [], "types": ["T033"], "canonical_name": "Acetabular spurs", "definition": "The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. [HPO:probinson]"} {"concept_id": "C3808303", "aliases": [], "types": ["T033"], "canonical_name": "Increased fecal bile acid", "definition": "Elevated amount of bile acids in the feces. [PMID:9109432]"} {"concept_id": "C3808403", "aliases": ["Large fleshy ears"], "types": ["T033"], "canonical_name": "Large fleshy ears"} {"concept_id": "C3808668", "aliases": [], "types": ["T184"], "canonical_name": "Episodic pain", "definition": "Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals. []"} {"concept_id": "C3808820", "aliases": ["Hepatitis, chronic, due to cryptosporidium infection"], "types": ["T047"], "canonical_name": "Chronic hepatitis due to cryptosporidium infection", "definition": "Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue. [PMID:23440042]"} {"concept_id": "C3808828", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent gastroenteritis", "definition": "Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. []"} {"concept_id": "C3808869", "aliases": ["Flattended head of long bone in upper arm"], "types": ["T033"], "canonical_name": "Flattened humeral heads"} {"concept_id": "C3809301", "aliases": [], "types": ["T033"], "canonical_name": "Foveal hyperpigmentation", "definition": "Increased amount of pigmentation in the fovea centralis. [HPO:probinson]"} {"concept_id": "C3809715", "aliases": ["Spontaneous, recurrent nosebleed", "Spontaneous, recurrent epistaxis", "Recurrent epistaxis", "Recurrent epistaxes"], "types": ["T184"], "canonical_name": "Recurring nosebleed"} {"concept_id": "C3809776", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent shingles", "definition": "Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes. [PMID:24113666]"} {"concept_id": "C3809827", "aliases": ["Staring eyes"], "types": ["T033"], "canonical_name": "Staring gaze", "definition": "An abnormality in which the eyes are held permanently wide open. [PMID:22675666]"} {"concept_id": "C3810018", "aliases": [], "types": ["T190"], "canonical_name": "Bilateral coxa valga", "definition": "The presence of bilateral coxa valga. [HPO:probinson]"} {"concept_id": "C3810214", "aliases": ["Elongated superior cerebellar peduncles"], "types": ["T033"], "canonical_name": "Elongated superior cerebellar peduncle", "definition": "Increased length of the superior cerebellar peduncle. [HPO:probinson]"} {"concept_id": "C3810365", "aliases": ["CVI"], "types": ["T047"], "definition": "Visual impairment due to central nervous system dysfunction.", "canonical_name": "Cortical/cerebral visual impairment"} {"concept_id": "C3810445", "aliases": ["Low-frequency sensorineural hearing loss"], "types": ["T033"], "canonical_name": "Low-frequency sensorineural hearing impairment", "definition": "A form of sensorineural hearing impairment that affects primarily the lower frequencies. [HPO:probinson]"} {"concept_id": "C3810451", "aliases": [], "types": ["T033"], "canonical_name": "Increased corneal thickness", "definition": "A increased anteroposterior thickness of the cornea. [HPO:probinson]"} {"concept_id": "C3810471", "aliases": [], "types": ["T033"], "canonical_name": "Intercrural pterygium", "definition": "A pterygium (or pterygia) in the intercrural (groin) region. [HPO:curators]"} {"concept_id": "C3810474", "aliases": [], "types": ["T191"], "canonical_name": "Occasional neurofibromas", "definition": "Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. [HPO:curators]"} {"concept_id": "C3810484", "aliases": ["Absent triceps"], "types": ["T033"], "canonical_name": "Triceps aplasia", "definition": "Absence of the triceps muscle. [HPO:curators]"} {"concept_id": "C3810487", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary hypoxanthine", "definition": "An increased level of hypoxanthine in the urine. [HPO:probinson]"} {"concept_id": "C3814530", "aliases": [], "types": ["T033"], "definition": "A small (less than 5-10 mm) intraepidermal/subepidermal cavity filled with clear, serosanguineous or cloudy fluid.", "canonical_name": "Skin vesicle"} {"concept_id": "C3825027", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the musculoskeletal system", "definition": "An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. []"} {"concept_id": "C3827674", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal U wave", "definition": "An electrocardiographic finding of U waves which have increased amplitude, are inverted, or merged with the preceding T wave."} {"concept_id": "C3829514", "aliases": ["Maternal fever during labour", "Maternal fever during labor"], "types": ["T184"], "canonical_name": "Intrapartum fever", "definition": "Elevated body temperature greater than or equal to 38C (100.4F) after the onset of labor but prior to the delivery of the fetus."} {"concept_id": "C3830467", "aliases": ["Disseminated Bacillus Calmette-Guerin infection", "BCGiosis"], "types": ["T047"], "canonical_name": "BCGosis", "definition": "A rare systemic and life-threatening infection associated with vaccination with the live attenuated strain of Mycobacterium bovis, bacillus Calmette-Guerin."} {"concept_id": "C3839073", "aliases": ["Abnormality of the nipple"], "types": ["T033"], "definition": "An abnormality of the nipple. [HPO:probinson]", "canonical_name": "Abnormal nipple morphology"} {"concept_id": "C3839407", "aliases": ["Puffiness of upper eyelid", "Cellulitis of upper eyelid", "Swelling of upper eyelid", "Upper eyelid edema", "Upper eyelid oedema"], "types": ["T046"], "definition": "Edema in the region of the upper eyelid. [HPO:probinson]", "canonical_name": "Fullness of upper eyelid"} {"concept_id": "C3839460", "aliases": ["Nonprogressive course", "Nonprogressive disorder", "Nonprogressive", "Stationary", "Does not worsen"], "types": ["T033"], "definition": "Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age. []", "canonical_name": "Non-progressive"} {"concept_id": "C3839753", "aliases": ["Abnormality of the toenails", "Abnormality of the toenail"], "types": ["T190"], "definition": "An anomaly of the toenail. [HPO:probinson]", "canonical_name": "Abnormal toenail morphology"} {"concept_id": "C3839990", "aliases": [], "types": ["T019"], "definition": "Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose. [HPO:probinson]", "canonical_name": "Pyriform aperture stenosis"} {"concept_id": "C3839997", "aliases": ["Puffiness of lower eyelid", "Cellulitis of lower eyelid", "Swelling of lower eyelid", "Lower eyelid oedema", "Fullness of lower eyelid"], "types": ["T033"], "definition": "Edema in the region of the Lower eyelid. [ORCID:0000-0001-5208-3432]", "canonical_name": "Lower eyelid edema"} {"concept_id": "C3840083", "aliases": ["Delayed closure of the anterior fontanelle", "Delayed closure of anterior fontanelle", "Late closure of the bregma sutures", "Later than typical closing of soft spot of skull", "Late closure of anterior fontanelle", "Delayed closure anterior fontanel", "Delayed closure of the bregma sutures", "Late closure of large anterior fontanel"], "types": ["T033"], "definition": "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. [HPO:probinson]", "canonical_name": "Persistent anterior fontanelle"} {"concept_id": "C3843207", "aliases": ["Noise sensitivity"], "types": ["T033"], "definition": "Decreased tolerance to sound. []", "canonical_name": "Sound sensitivity"} {"concept_id": "C3850067", "aliases": [], "types": ["T046"], "definition": "A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak). [PMID:19225307, PMID:22929030]", "canonical_name": "Spontaneous cerebrospinal fluid leak"} {"concept_id": "C3853581", "aliases": [], "types": ["T074"], "definition": "The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. [PMID:25874832]", "canonical_name": "Nasogastric tube feeding"} {"concept_id": "C3853779", "aliases": [], "types": ["T047"], "definition": "A condition in newborns caused by immunity of the mother to PLATELET ALLOANTIGENS on the fetal platelets. The PLATELETS, coated with maternal ANTIBODIES, are destroyed and removed by the fetal MONONUCLEAR PHAGOCYTE SYSTEM. Affected infants may have INTRACRANIAL HEMORRHAGES.", "canonical_name": "Neonatal alloimmune thrombocytopenia"} {"concept_id": "C3854181", "aliases": ["Sebaceous nevus", "Naevus sebaceous", "Sebaceous naevus", "Sebaceous mole", "Nevus sebaceous"], "types": ["T191"], "definition": "A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly. [HPO:probinson]", "canonical_name": "Organoid nevus"} {"concept_id": "C3854369", "aliases": [], "types": ["T033"], "canonical_name": "Genital blistering", "definition": "The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. []"} {"concept_id": "C3854388", "aliases": ["Hyperferritinemia"], "types": ["T047"], "definition": "A finding of elevated serum level of FERRITIN. It is often associated with IRON OVERLOAD, repeated blood transfusions, malignancy, iron metabolic syndromes, virus infection, liver injury or dysfunction, and renal failure. Hyperferritinemia in iron metabolic syndromes (e.g., Still's diseases, and HEMOPHAGOCYTIC SYNDROME) is referred to as dysmetabolic hyperferritinemia.", "canonical_name": "Hyperferritinaemia"} {"concept_id": "C3854542", "aliases": [], "types": ["T047"], "canonical_name": "Digital pitting scar", "definition": "Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe. [PMID:8358096]"} {"concept_id": "C3854543", "aliases": ["Pharyngodynia"], "types": ["T184"], "canonical_name": "Throat discomfort"} {"concept_id": "C3854544", "aliases": ["Throat pain", "Sore throat"], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat. []", "canonical_name": "Pharyngalgia"} {"concept_id": "C3854594", "aliases": ["Hyperchromic macrocytic anaemia"], "types": ["T047"], "canonical_name": "Hyperchromic macrocytic anemia", "definition": "A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. [HPO:probinson]"} {"concept_id": "C3854629", "aliases": [], "types": ["T047"], "canonical_name": "Tendon thickening", "definition": "An abnormal increase in the thickness (diameter) of a tendon. [PMID:24932450]"} {"concept_id": "C3863761", "aliases": ["Finger dactylitis"], "types": ["T047"], "definition": "Fingers appear swollen and plump owing to inflammation of the complete finger. []", "canonical_name": "Sausage fingers"} {"concept_id": "C3872671", "aliases": [], "types": ["T033"], "canonical_name": "Deficiency of alveolar ridge"} {"concept_id": "C3872820", "aliases": [], "types": ["T047"], "definition": "Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli. [PMID:31151956, PMID:31189067]", "canonical_name": "Acinar dysplasia"} {"concept_id": "C3874311", "aliases": ["Faecal vomiting", "Stercoraceous vomiting", "Feculent vomiting", "Vomiting fecal matter", "Vomiting faecal matter"], "types": ["T184"], "definition": "Vomiting of material that is of fecal origin. []", "canonical_name": "Fecal vomiting"} {"concept_id": "C3874334", "aliases": ["Severe hearing impairment", "Severe hearing loss"], "types": ["T033"], "definition": "A severe form of hearing impairment. [HPO:probinson]", "canonical_name": "Severe deafness"} {"concept_id": "C3874458", "aliases": ["Disturbance of dental eruption"], "types": ["T047"], "canonical_name": "Disturbance of tooth eruption"} {"concept_id": "C3875242", "aliases": ["Allergy to fungi", "Fungus allergy", "Fungi allergy"], "types": ["T046"], "definition": "Hypersensitivity in form of an adverse immune reaction against fungus. []", "canonical_name": "Fungal allergy"} {"concept_id": "C3875321", "aliases": ["Skin inflammation", "Abnormal tendency to infections of the skin", "Inflammatory abnormality of the skin"], "types": ["T047"], "definition": "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. [HPO:probinson]", "canonical_name": "Inflammatory skin disease"} {"concept_id": "C3887487", "aliases": [], "types": ["T047"], "definition": "Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. [HPO:probinson]", "canonical_name": "Postaxial polydactyly type A"} {"concept_id": "C3887489", "aliases": ["Clubbed toes"], "types": ["T190"], "definition": "Terminal broadening of the toes (distal phalanges of the toes). [HPO:sdoelken]", "canonical_name": "Clubbing of toes"} {"concept_id": "C3887491", "aliases": [], "types": ["T047"], "definition": "A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. [DDD:tkuijpers, HPO:probinson, PMID:16623208]", "canonical_name": "Exudative pleural effusion"} {"concept_id": "C3887496", "aliases": [], "types": ["T019"], "definition": "A developmental defect resulting in the presence of fewer than the normal number of digits. [HPO:probinson]", "canonical_name": "Oligodactyly"} {"concept_id": "C3887498", "aliases": [], "types": ["T019"], "canonical_name": "Bifid ureter", "definition": "Incomplete duplication of the ureter. [PMID:23513084]"} {"concept_id": "C3887499", "aliases": ["Renal cyst", "Kidney cyst"], "types": ["T047"], "definition": "Abnormal fluid filled sac within the kidney, either acquired or congenital.", "canonical_name": "Renal cysts"} {"concept_id": "C3887506", "aliases": ["Muscle spasms", "Hyperkinetic movements", "Hyperkinesis"], "types": ["T047"], "definition": "Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders.", "canonical_name": "Hyperkinesia"} {"concept_id": "C3887524", "aliases": [], "types": ["T047"], "definition": "Tearing or wearing off of skin.", "canonical_name": "Skin erosion"} {"concept_id": "C3887527", "aliases": ["Cervical spine fusion", "Fused neck", "Fusion of cervical vertebrae", "Fused cervical vertebrae"], "types": ["T019"], "definition": "A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. []", "canonical_name": "Cervical vertebral fusion"} {"concept_id": "C3887531", "aliases": [], "types": ["T190"], "definition": "Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. [PMID:19667340]", "canonical_name": "Keratoglobus"} {"concept_id": "C3887548", "aliases": ["Central apnoea"], "types": ["T047"], "definition": "Cessation of air flow due to abnormal central nervous system control.", "canonical_name": "Central apnea"} {"concept_id": "C3887554", "aliases": ["Muscular subaortic stenosis"], "types": ["T190"], "canonical_name": "Muscular subvalvular aortic stenosis", "definition": "A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract. [HPO:probinson]"} {"concept_id": "C3887611", "aliases": [], "types": ["T184"], "definition": "An inability to rest, relax, or be still.", "canonical_name": "Restlessness"} {"concept_id": "C3887628", "aliases": [], "types": ["T033"], "definition": "Persistence of immune complexes in the blood circulation. [HPO:probinson]", "canonical_name": "Circulating immune complexes"} {"concept_id": "C3887640", "aliases": ["Increase in astrocyte number"], "types": ["T046"], "definition": "Proliferation of astrocytes in the area of a lesion of the central nervous system. [HPO:probinson]", "canonical_name": "Astrocytosis"} {"concept_id": "C3887667", "aliases": [], "types": ["T047"], "definition": "A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture. [HPO:probinson, PMID:17917462]", "canonical_name": "Retrocollis"} {"concept_id": "C3887678", "aliases": ["Central primitive neuroectodermal tumor"], "types": ["T191"], "definition": "A term that refers to central nervous system embryonal tumors which are not fully characterized.", "canonical_name": "Central primitive neuroectodermal tumour"} {"concept_id": "C3887709", "aliases": ["Optic neuropathy"], "types": ["T047"], "definition": "Disorder of the optic nerve.", "canonical_name": "Damaged optic nerve"} {"concept_id": "C3887784", "aliases": [], "types": ["T033"], "definition": "A finding indicating that the urine production is less than 500 milliliters during a 24 hour period.", "canonical_name": "Decreased urine output"} {"concept_id": "C3887851", "aliases": [], "types": ["T019"], "canonical_name": "Basilar invagination", "definition": "Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama). [HPO:probinson, PMID:10084535]"} {"concept_id": "C3887875", "aliases": ["Visual field defect", "Visual field defects"], "types": ["T033"], "definition": "An absolute or relative reduction in the extent of the normal field of vision.", "canonical_name": "Partial loss of field of vision"} {"concept_id": "C3887898", "aliases": [], "types": ["T047"], "definition": "Seizures in the first years of life characterized by flexion and extension jerks of the neck, trunk, and extremities.", "canonical_name": "Infantile spasms"} {"concept_id": "C3887938", "aliases": ["Green-weak", "Deuteranomoly"], "types": ["T047"], "definition": "A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green. [HPO:probinson]", "canonical_name": "Deuteranomaly"} {"concept_id": "C3887980", "aliases": ["Protanomaly", "Colorblindness, partial, protan series"], "types": ["T047"], "definition": "A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. [HPO:probinson]", "canonical_name": "Red-weak"} {"concept_id": "C3888081", "aliases": [], "types": ["T047"], "canonical_name": "L-2-hydroxyglutaric acidemia"} {"concept_id": "C3888103", "aliases": ["Cosman ear", "Constricted ear", "Question mark ears"], "types": ["T033"], "definition": "Cleft between the helix and the lobe. [eom:cffbc3de49dbb172, PMID:19152421]", "canonical_name": "Question mark ear"} {"concept_id": "C3888576", "aliases": [], "types": ["T033"], "canonical_name": "Increased amniotic fluid index"} {"concept_id": "C3889047", "aliases": [], "types": ["T046"], "canonical_name": "Intestinal inflammation", "definition": "A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract. [PMID:9897960]"} {"concept_id": "C3892044", "aliases": [], "types": ["T047"], "definition": "An arthritis affecting fewer than five separate joints.", "canonical_name": "Oligoarthritis"} {"concept_id": "C3898900", "aliases": [], "types": ["T080"], "definition": "Having no significant health-related issues.", "canonical_name": "Healthy"} {"concept_id": "C4011556", "aliases": ["Abnormality of the eyebrow"], "types": ["T190"], "canonical_name": "Abnormal eyebrow morphology", "definition": "An abnormality of the eyebrow. [HPO:probinson]"} {"concept_id": "C4011937", "aliases": ["2-aminoadipic aciduria"], "types": ["T033"], "definition": "A increased concentration of alpha-aminoadipic acid in the urine. [https://orcid.org/0000-0002-8169-9049, PMID:117247]", "canonical_name": "Alpha-aminoadipic aciduria"} {"concept_id": "C4012261", "aliases": ["Jagged incisors"], "types": ["T033"], "canonical_name": "Serrated incisors", "definition": "Incisor teeth with irregular edges said to resemble a saw. [ORCID:0000-0003-3475-564X, PMID:25439729]"} {"concept_id": "C4012359", "aliases": [], "types": ["T033"], "canonical_name": "Pointed tooth"} {"concept_id": "C4012968", "aliases": ["Global developmental delay, mild"], "types": ["T033"], "canonical_name": "Mild global developmental delay", "definition": "A mild delay in the achievement of motor or mental milestones in the domains of development of a child. [DDD:hvfirth]"} {"concept_id": "C4013260", "aliases": ["Migrating partial seizure"], "types": ["T033"], "canonical_name": "Migrating focal seizure", "definition": "A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations. [PMID:21788614, PMID:23599387]"} {"concept_id": "C4013429", "aliases": ["Small tragus", "Hypotrophic tragus", "Hypoplastic tragus"], "types": ["T190"], "canonical_name": "Underdeveloped tragus", "definition": "Decreased posterolateral protrusion of the tragus. [PMID:19152421]"} {"concept_id": "C4013575", "aliases": ["Endobronchial telangiectasia"], "types": ["T033"], "canonical_name": "Bronchial telangiectasia", "definition": "Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system. [LMU:crapp, PMID:31466963, PMID:3359830]"} {"concept_id": "C4014234", "aliases": ["CD4 T cell lymphopenia"], "types": ["T033"], "canonical_name": "CD4+ T-cell lymphopenia"} {"concept_id": "C4014299", "aliases": ["Monkey wrench appearance of femoral neck", "Swedish key configuration of the proximal femur", "Monkey wrench configuration of the proximal femur", "Swedish key appearance of femoral neck"], "types": ["T190"], "canonical_name": "Monkey wrench femoral neck", "definition": "The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle. [PMID:7977470]"} {"concept_id": "C4014650", "aliases": ["Abnormal mitochondrion morphology"], "types": ["T033"], "canonical_name": "Abnormal mitochondrial morphology", "definition": "Any structural anomaly of the mitochondria. [HPO:probinson]"} {"concept_id": "C4014731", "aliases": [], "types": ["T033"], "canonical_name": "Nailfold capillary tortuosity", "definition": "An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels. [HPO:probinson, PMID:25029335]"} {"concept_id": "C4014733", "aliases": [], "types": ["T033"], "canonical_name": "Follicular hyperplasia", "definition": "Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. [HPO:probinson, PMID:23281438]"} {"concept_id": "C4015009", "aliases": [], "types": ["T033"], "canonical_name": "Decreased plasma free carnitine", "definition": "A decreased concentration of free (unbound) carnitine in the blood. [HPO:probinson]"} {"concept_id": "C4015052", "aliases": [], "types": ["T033"], "definition": "Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography. [HPO:probinson, PMID:26918204]", "canonical_name": "Vestibular areflexia"} {"concept_id": "C4015070", "aliases": [], "types": ["T046"], "canonical_name": "Systemic autoinflammation", "definition": "Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body. []"} {"concept_id": "C4015098", "aliases": [], "types": ["T033"], "canonical_name": "Hypoglycosylation of alpha-dystroglycan", "definition": "A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue. [PMID:18691338]"} {"concept_id": "C4015136", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent bronchiolitis", "definition": "An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis. [HPO:probinson]"} {"concept_id": "C4015203", "aliases": ["Wooly scalp hair"], "types": ["T033"], "canonical_name": "Woolly scalp hair", "definition": "The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. [PMID:20464096]"} {"concept_id": "C4015465", "aliases": [], "types": ["T033"], "canonical_name": "Thoracic kyphoscoliosis"} {"concept_id": "C4015704", "aliases": ["Hypoplasia of the ureter", "Ureter hypoplasia"], "types": ["T019"], "canonical_name": "Ureteral hypoplasia", "definition": "Underdevelopment of the ureter. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4018849", "aliases": ["Abnormal fear/anxiety-related behavior"], "types": ["T048"], "definition": "An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. [HPO:sdoelken]", "canonical_name": "Abnormal fear/anxiety-related behaviour"} {"concept_id": "C4018858", "aliases": ["EKG J waves", "Osborne waves"], "types": ["T033"], "definition": "The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point. [HPO:probinson, PMID:19561994]", "canonical_name": "J wave"} {"concept_id": "C4018860", "aliases": ["Pituitary growth hormone cell adenoma"], "types": ["T191"], "definition": "A type of pituitary adenoma that produces growth hormone. [DDD:spark]", "canonical_name": "Pituitary somatotropinoma"} {"concept_id": "C4018871", "aliases": ["Respiratory abnormality"], "types": ["T190"], "definition": "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. [HPO:probinson]", "canonical_name": "Abnormality of the respiratory system"} {"concept_id": "C4019074", "aliases": [], "types": ["T033"], "canonical_name": "Large pelvis"} {"concept_id": "C4019084", "aliases": [], "types": ["T190"], "definition": "The presence of developmental dysplasia of the pancreas. [HPO:probinson]", "canonical_name": "Pancreatic dysplasia"} {"concept_id": "C4019252", "aliases": [], "types": ["T082"], "definition": "The anatomical localization of the specified phenotypic abnormality. [HPO:probinson]", "canonical_name": "Position"} {"concept_id": "C4019436", "aliases": ["Antiphospholipid antibodies", "Phospholipid antibody positivity", "Antiphospholipid antibody"], "types": ["T033"], "definition": "The presence of circulating autoantibodies to phospholipids. [HPO:probinson]", "canonical_name": "Antiphospholipid antibody positivity"} {"concept_id": "C4020658", "aliases": ["Absent/small innermost ring finger bone", "Absent/underdeveloped innermost ring finger bone"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the proximal phalanx of the 4th finger"} {"concept_id": "C4020660", "aliases": ["Broad innermost ring finger bone"], "types": ["T190"], "canonical_name": "Broad proximal phalanx of the 4th finger", "definition": "Increased width of the proximal phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4020689", "aliases": [], "types": ["T190"], "canonical_name": "Insertional polydactyly"} {"concept_id": "C4020690", "aliases": ["Abnormal peripheral nerve transmission", "Sensory and motor nerve conduction abnormalities"], "types": ["T033"], "canonical_name": "Abnormality of peripheral nerve conduction", "definition": "An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). [HPO:probinson]"} {"concept_id": "C4020691", "aliases": [], "types": ["T190"], "canonical_name": "Partial/complete duplication of the phalanges of the hallux"} {"concept_id": "C4020692", "aliases": [], "types": ["T190"], "canonical_name": "Wide ulna"} {"concept_id": "C4020694", "aliases": [], "types": ["T190"], "canonical_name": "Constricted helix type IV"} {"concept_id": "C4020695", "aliases": [], "types": ["T033"], "canonical_name": "Increased serum bile acid concentration during pregnancy, resolves"} {"concept_id": "C4020697", "aliases": [], "types": ["T047"], "canonical_name": "Giant cell hepatitis on liver biopsy"} {"concept_id": "C4020699", "aliases": [], "types": ["T019"], "canonical_name": "Congenital dermal melanocytosis"} {"concept_id": "C4020700", "aliases": [], "types": ["T033"], "canonical_name": "Intestinal hypoperistalsis"} {"concept_id": "C4020701", "aliases": [], "types": ["T190"], "canonical_name": "Enthesis abnormality"} {"concept_id": "C4020702", "aliases": [], "types": ["T190"], "canonical_name": "Gut duplication"} {"concept_id": "C4020703", "aliases": [], "types": ["T047"], "canonical_name": "Cystic lung lesion"} {"concept_id": "C4020704", "aliases": ["Sertoli cell neoplasia"], "types": ["T191"], "canonical_name": "Sertoli cell neoplasm", "definition": "The presence of a neoplasm of the testis with origin in a Sertoli cell. [HPO:probinson]"} {"concept_id": "C4020705", "aliases": [], "types": ["T047"], "canonical_name": "Glomerulocystic kidney disease", "definition": "A condition characterized by dilatation of the Bowman space and affecting more than 5% of the glomeruli."} {"concept_id": "C4020706", "aliases": [], "types": ["T191"], "canonical_name": "Neoplasia of the lip"} {"concept_id": "C4020707", "aliases": [], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the nares"} {"concept_id": "C4020708", "aliases": [], "types": ["T191"], "canonical_name": "Neoplasia of the gallbladder"} {"concept_id": "C4020709", "aliases": [], "types": ["T191"], "canonical_name": "Neoplasia of the biliary tract"} {"concept_id": "C4020710", "aliases": [], "types": ["T047"], "canonical_name": "Aseptic epiphyseal necrosis"} {"concept_id": "C4020712", "aliases": [], "types": ["T033"], "canonical_name": "Skin pits"} {"concept_id": "C4020713", "aliases": [], "types": ["T047"], "canonical_name": "Penile melanosis"} {"concept_id": "C4020714", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal female genital system physiology"} {"concept_id": "C4020715", "aliases": [], "types": ["T033"], "canonical_name": "Serous ovarian cyst"} {"concept_id": "C4020716", "aliases": ["Abnormal male genital system physiology"], "types": ["T046"], "canonical_name": "Abnormal male reproductive system physiology", "definition": "An abnormal functionality of the male genital system. [HPO:probinson]"} {"concept_id": "C4020718", "aliases": ["Broad nasal dorsum", "Increased width of nasal ridge", "Broad nasal ridge", "Increased width of nasal dorsum", "Nasal ridge, wide", "Broad dorsum of nose", "Wide dorsum of nose", "Wide nasal ridge", "Increased width of dorsum of nose", "Wide nasal dorsum"], "types": ["T033"], "canonical_name": "Wide nasal ridge", "definition": "Increased width of the nasal ridge. [HPO:probinson, PMID:19152422]"} {"concept_id": "C4020719", "aliases": [], "types": ["T190"], "canonical_name": "Dilated cerebral perivascular spaces"} {"concept_id": "C4020720", "aliases": ["Hypoplastic posterior communicating arteries"], "types": ["T019"], "canonical_name": "Hypoplastic posterior communicating artery", "definition": "Underdeveloped posterior communicating artery. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4020721", "aliases": [], "types": ["T033"], "canonical_name": "Eyes fixed downward"} {"concept_id": "C4020722", "aliases": [], "types": ["T033"], "canonical_name": "Unilateral wrist contracture"} {"concept_id": "C4020723", "aliases": [], "types": ["T033"], "canonical_name": "Bilateral wrist contracture"} {"concept_id": "C4020724", "aliases": [], "types": ["T047"], "canonical_name": "Nonocclusive coronary artery stenosis"} {"concept_id": "C4020725", "aliases": ["Non-occlusive coronary artery disease", "Non-occlusive coronary artery stenosis", "Nonocclusive coronary artery disease"], "types": ["T047"], "canonical_name": "Nonocclusive coronary artery atherosclerosis", "definition": "Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4020726", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal social interactions"} {"concept_id": "C4020727", "aliases": [], "types": ["T033"], "canonical_name": "Paucity of cerebral white matter"} {"concept_id": "C4020728", "aliases": [], "types": ["T190"], "canonical_name": "Diffuse villous hypertrophy of choroid plexus"} {"concept_id": "C4020730", "aliases": ["Increased muscle lipid droplets"], "types": ["T033"], "canonical_name": "Increased intramyocellular lipid droplets", "definition": "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. [HPO:probinson, PMID:20691590]"} {"concept_id": "C4020731", "aliases": ["Creatine metabolism abnormal", "Abnormality of creatine metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating creatine concentration", "definition": "A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells. [HPO:probinson]"} {"concept_id": "C4020732", "aliases": [], "types": ["T190"], "canonical_name": "Mitochondrial abnormalities"} {"concept_id": "C4020733", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal acetylcarnitine profile"} {"concept_id": "C4020734", "aliases": [], "types": ["T047"], "canonical_name": "Nystagmus, continuous pendular"} {"concept_id": "C4020735", "aliases": ["Increased urinary vanillylmandelic acid"], "types": ["T033"], "canonical_name": "Elevated urinary vanillylmandelic acid", "definition": "An increased concentration of vanillylmandelic acid in the urine. [HPO:probinson]"} {"concept_id": "C4020736", "aliases": ["Increased urinary homovanillic acid"], "types": ["T033"], "canonical_name": "Elevated urinary homovanillic acid", "definition": "An increased concentration of homovanillic acid in the urine. [HPO:probinson, PMID:27830764]"} {"concept_id": "C4020737", "aliases": [], "types": ["T033"], "canonical_name": "Respiratory complex deficiency, ATPase deficiency"} {"concept_id": "C4020738", "aliases": [], "types": ["T033"], "canonical_name": "Respiratory complex III deficiency"} {"concept_id": "C4020739", "aliases": [], "types": ["T033"], "canonical_name": "Respiratory complex I deficiency"} {"concept_id": "C4020740", "aliases": ["4th toe clinodactyly", "Curvature of 4th toe"], "types": ["T033"], "canonical_name": "Clinodactyly of the 4th toe", "definition": "Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). [HPO:probinson]"} {"concept_id": "C4020741", "aliases": [], "types": ["T047"], "canonical_name": "ACTH-dependent hypercortisolemia"} {"concept_id": "C4020742", "aliases": [], "types": ["T047"], "canonical_name": "Familial primary hyperaldosteronism type 2"} {"concept_id": "C4020743", "aliases": [], "types": ["T047"], "canonical_name": "Glucocorticoid-remediable familial primary aldosteronism"} {"concept_id": "C4020744", "aliases": [], "types": ["T047"], "canonical_name": "Familial primary hyperaldosteronism type 1"} {"concept_id": "C4020745", "aliases": [], "types": ["T033"], "canonical_name": "Corticotropin-releasing hormone receptor (CRHR) resistance"} {"concept_id": "C4020746", "aliases": [], "types": ["T033"], "canonical_name": "Ovine arch"} {"concept_id": "C4020747", "aliases": [], "types": ["T033"], "canonical_name": "Biopsy shows villous atrophy"} {"concept_id": "C4020748", "aliases": [], "types": ["T033"], "canonical_name": "PEG-fed in infancy"} {"concept_id": "C4020749", "aliases": [], "types": ["T033"], "canonical_name": "Head circumference small for gestational age"} {"concept_id": "C4020750", "aliases": ["Thin vestibular nerve", "Hypoplasia of the eighth cranial nerve", "Hypoplasia of cranial nerve VIII"], "types": ["T190"], "canonical_name": "Hypoplasia of the vestibular nerve", "definition": "Underdevelopment of the vestibular nerve. [DDD:dfitzpatrick]"} {"concept_id": "C4020751", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia of cranial nerve VIII"} {"concept_id": "C4020752", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of keratinization"} {"concept_id": "C4020753", "aliases": [], "types": ["T047"], "canonical_name": "Intimal fibrosis"} {"concept_id": "C4020754", "aliases": [], "types": ["T033"], "canonical_name": "Temporal skin defect"} {"concept_id": "C4020755", "aliases": ["Anomaly of the fontanelles"], "types": ["T190"], "canonical_name": "Abnormality of fontanelles", "definition": "An abnormality of the fontanelle. [HPO:probinson, PMID:12825844]"} {"concept_id": "C4020756", "aliases": [], "types": ["T019"], "canonical_name": "Unilateral coronal craniosynostosis"} {"concept_id": "C4020757", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia of the eyelids"} {"concept_id": "C4020759", "aliases": [], "types": ["T190"], "canonical_name": "Pointed incisor"} {"concept_id": "C4020760", "aliases": [], "types": ["T047"], "canonical_name": "Blood circulation disorder"} {"concept_id": "C4020761", "aliases": [], "types": ["T033"], "canonical_name": "Carnitine levels abnormal"} {"concept_id": "C4020762", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal nucleoside levels"} {"concept_id": "C4020763", "aliases": [], "types": ["T033"], "canonical_name": "Serum protein abnormality"} {"concept_id": "C4020764", "aliases": [], "types": ["T047"], "canonical_name": "Blood protein disease"} {"concept_id": "C4020765", "aliases": [], "types": ["T033"], "canonical_name": "EEG with 3-4-Hz spike waves"} {"concept_id": "C4020766", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal copper levels"} {"concept_id": "C4020767", "aliases": [], "types": ["T191"], "canonical_name": "Genital neoplasia"} {"concept_id": "C4020768", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ossification involving bones of the feet"} {"concept_id": "C4020769", "aliases": [], "types": ["T033"], "canonical_name": "Fusion of thamali"} {"concept_id": "C4020770", "aliases": ["Small premaxilla", "Underdevelopment of the premaxilla", "Decreased size of premaxilla", "Primary palate bone deficiency", "Premaxillary underdevelopment", "Hypoplasia of the primary palate bone", "Small primary palate bone", "Underdevelopment of premaxilla", "Premaxillary bone deficiency", "Hypoplasia of the intermaxillary bone", "Decreased size of the primary palate bone", "Underdevelopment of the primary palate bone"], "types": ["T033"], "canonical_name": "Hypoplasia of the premaxilla", "definition": "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures. [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436]"} {"concept_id": "C4020771", "aliases": [], "types": ["T191"], "canonical_name": "Neoplasia of the skeletal system"} {"concept_id": "C4020772", "aliases": [], "types": ["T190"], "canonical_name": "Hypoplastic palate"} {"concept_id": "C4020773", "aliases": [], "types": ["T190"], "canonical_name": "Hypoplasia/agenesis of distal phalanges of toes"} {"concept_id": "C4020774", "aliases": [], "types": ["T190"], "canonical_name": "Hypoplastic 2nd metacarpal"} {"concept_id": "C4020776", "aliases": [], "types": ["T033"], "canonical_name": "Large helix"} {"concept_id": "C4020777", "aliases": [], "types": ["T033"], "canonical_name": "Underdeveloped brows"} {"concept_id": "C4020778", "aliases": [], "types": ["T047"], "canonical_name": "maternal hyperglycemia"} {"concept_id": "C4020779", "aliases": [], "types": ["T033"], "canonical_name": "Absence of the parotid gland"} {"concept_id": "C4020780", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia of the phalanges of the thumb"} {"concept_id": "C4020781", "aliases": [], "types": ["T190"], "canonical_name": "Fusion of the terminal and middle phalanges of the 5th finger"} {"concept_id": "C4020782", "aliases": [], "types": ["T033"], "canonical_name": "Ivory epiphysis of the proximal phalanx of the little finger"} {"concept_id": "C4020783", "aliases": [], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the proximal phalanx of the little finger"} {"concept_id": "C4020784", "aliases": ["Cone-shaped end part of the innermost bone of pinkie finger", "Cone-shaped end part of the innermost bone of little finger", "Cone-shaped end part of the innermost bone of pinky finger", "Angel-shaped epiphysis of the proximal phalanx of the 5th finger"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the proximal phalanx of the 5th finger", "definition": "A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]"} {"concept_id": "C4020785", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the axial skeleton"} {"concept_id": "C4020786", "aliases": [], "types": ["T033"], "canonical_name": "Diminished diaphragmatic motion"} {"concept_id": "C4020787", "aliases": [], "types": ["T019"], "canonical_name": "Subcoronal hypospadias"} {"concept_id": "C4020788", "aliases": [], "types": ["T019"], "canonical_name": "Xy female gonadal dysgenesis"} {"concept_id": "C4020789", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal sperm development"} {"concept_id": "C4020790", "aliases": [], "types": ["T047"], "canonical_name": "Medullary sponge kidney disease"} {"concept_id": "C4020791", "aliases": [], "types": ["T190"], "canonical_name": "Absent or rudimentary fallopian tubes"} {"concept_id": "C4020792", "aliases": [], "types": ["T190"], "canonical_name": "Snail ear"} {"concept_id": "C4020793", "aliases": [], "types": ["T190"], "canonical_name": "Shell ear"} {"concept_id": "C4020794", "aliases": [], "types": ["T190"], "canonical_name": "Severe cupped ear, type III"} {"concept_id": "C4020795", "aliases": [], "types": ["T019"], "canonical_name": "Mini ear"} {"concept_id": "C4020796", "aliases": [], "types": ["T019"], "canonical_name": "Ear, grade II dysplasia"} {"concept_id": "C4020797", "aliases": ["Cockleshell ear"], "types": ["T190"], "canonical_name": "Microtia, second degree", "definition": "Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. [eom:ae27d9699faef13a, PMID:19152421]"} {"concept_id": "C4020798", "aliases": [], "types": ["T033"], "canonical_name": "Moderate neural deafness"} {"concept_id": "C4020799", "aliases": [], "types": ["T190"], "canonical_name": "Midthoracic hemivertebrae"} {"concept_id": "C4020800", "aliases": ["Respiratory complex IV deficiency"], "types": ["T033"], "canonical_name": "Decreased activity of mitochondrial complex IV", "definition": "A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. [HPO:probinson]"} {"concept_id": "C4020801", "aliases": [], "types": ["T047"], "canonical_name": "Respiratory complex II deficiency"} {"concept_id": "C4020802", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal zinc metabolism"} {"concept_id": "C4020803", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal type II collagen"} {"concept_id": "C4020804", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal hyaline collagen"} {"concept_id": "C4020805", "aliases": [], "types": ["T047"], "canonical_name": "Athyroidal hypothyroidism"} {"concept_id": "C4020808", "aliases": [], "types": ["T190"], "canonical_name": "Everted lower eyelids"} {"concept_id": "C4020809", "aliases": [], "types": ["T191"], "canonical_name": "Genitourinary tract neoplasia"} {"concept_id": "C4020810", "aliases": [], "types": ["T033"], "canonical_name": "White matter dysmyelination/demyelination"} {"concept_id": "C4020811", "aliases": [], "types": ["T047"], "canonical_name": "Length dependent motor neuropathy"} {"concept_id": "C4020812", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the anterior horn cell"} {"concept_id": "C4020814", "aliases": [], "types": ["T190"], "canonical_name": "Diaphragmatic sequestrum"} {"concept_id": "C4020815", "aliases": ["Failure of development of incisor"], "types": ["T190"], "canonical_name": "Agenesis of incisor", "definition": "Agenesis of incisor. [HPO:probinson]"} {"concept_id": "C4020816", "aliases": [], "types": ["T190"], "canonical_name": "Absence of incisors"} {"concept_id": "C4020817", "aliases": [], "types": ["T190"], "canonical_name": "Crescent/chevron-shaped pulp chambers"} {"concept_id": "C4020818", "aliases": ["Peg shaped lower front tooth", "Pointed mandibular incisors", "Conoid mandibular incisor", "Cone shaped lower front tooth", "Lower front shark tooth"], "types": ["T033"], "canonical_name": "Conical mandibular incisor", "definition": "An abnormal conical morphology of the primary or permanent mandibular incisors. [HPO:ibailleulforestier]"} {"concept_id": "C4020819", "aliases": [], "types": ["T190"], "canonical_name": "Missing central incisors"} {"concept_id": "C4020821", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia of the interphalangeal creases"} {"concept_id": "C4020822", "aliases": [], "types": ["T047"], "canonical_name": "Newborn gammaglobulin deficiency"} {"concept_id": "C4020823", "aliases": [], "types": ["T047"], "canonical_name": "Candida overgrowth syndrome"} {"concept_id": "C4020824", "aliases": [], "types": ["T034"], "canonical_name": "Absence of B cells"} {"concept_id": "C4020825", "aliases": ["Irregular proximal femoral epiphyses", "Irregular capital femoral epiphyses", "Irregular end part of innermost thighbone"], "types": ["T190"], "canonical_name": "Irregular capital femoral epiphysis", "definition": "Irregular surface of the normally relatively smooth capital femoral epiphysis. [HPO:probinson]"} {"concept_id": "C4020826", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal magnesium metabolism"} {"concept_id": "C4020827", "aliases": ["Neonatal hemolytic anaemia"], "types": ["T047"], "canonical_name": "Neonatal hemolytic anemia"} {"concept_id": "C4020828", "aliases": ["Increased density of spinal bone", "Ivory spinal bone", "increased spinal bone density Z", "Dense spinal bone"], "types": ["T033"], "canonical_name": "Increased spinal bone density", "definition": "Increased bone density affecting the bones of the spine (vertebral column). [HPO:curators]"} {"concept_id": "C4020830", "aliases": [], "types": ["T033"], "canonical_name": "Fatty acids abnormal"} {"concept_id": "C4020831", "aliases": ["Fused hand bones"], "types": ["T190"], "canonical_name": "Synostosis involving bones of the hand", "definition": "An abnormal union between bones or parts of bones of the hand. [HPO:sdoelken]"} {"concept_id": "C4020832", "aliases": [], "types": ["T190"], "canonical_name": "Lytic defects of the phalanges of the ring finger"} {"concept_id": "C4020833", "aliases": [], "types": ["T033"], "canonical_name": "Delayed maturation of the hand bones"} {"concept_id": "C4020834", "aliases": ["Advanced maturation of the hand bones", "Accelerated maturation of hand bones"], "types": ["T033"], "canonical_name": "Advanced ossification of the hand bones", "definition": "Ossification of hand bones at an earlier age than normal. [HPO:probinson]"} {"concept_id": "C4020835", "aliases": [], "types": ["T190"], "canonical_name": "Flared humerus"} {"concept_id": "C4020836", "aliases": [], "types": ["T190"], "canonical_name": "Advanced maturation of the humeral epiphyses"} {"concept_id": "C4020837", "aliases": [], "types": ["T033"], "canonical_name": "EMG: spontaneous, repetitive electrical activity"} {"concept_id": "C4020838", "aliases": [], "types": ["T033"], "canonical_name": "Relative short stature"} {"concept_id": "C4020839", "aliases": [], "types": ["T190"], "canonical_name": "Multiple vertebral anomalies"} {"concept_id": "C4020840", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal vertebral bodies"} {"concept_id": "C4020841", "aliases": [], "types": ["T033"], "canonical_name": "EMG: decrement at repetitive stimulation"} {"concept_id": "C4020842", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of neuromuscular transmission"} {"concept_id": "C4020843", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urinary amino-acid findings"} {"concept_id": "C4020844", "aliases": [], "types": ["T190"], "canonical_name": "Bullet vertebral body"} {"concept_id": "C4020845", "aliases": [], "types": ["T033"], "canonical_name": "Orotidine-5-prime-phosphate decarboxylase defect"} {"concept_id": "C4020846", "aliases": [], "types": ["T033"], "canonical_name": "Prone to bacterial infection"} {"concept_id": "C4020847", "aliases": ["Abnormal shape of pelvic girdle bone", "Abnormality of the pelvic girdle"], "types": ["T190"], "canonical_name": "Abnormality of pelvic girdle bone morphology", "definition": "An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. [HPO:probinson]"} {"concept_id": "C4020848", "aliases": [], "types": ["T047"], "canonical_name": "Aneurysmal disease"} {"concept_id": "C4020849", "aliases": [], "types": ["T033"], "canonical_name": "Bowed and upward slanting eyebrows"} {"concept_id": "C4020850", "aliases": ["Generalised trichodysplasia"], "types": ["T047"], "canonical_name": "Generalized trichodysplasia"} {"concept_id": "C4020851", "aliases": [], "types": ["T190"], "canonical_name": "Cortical white matter abnormalities seen on MRI"} {"concept_id": "C4020852", "aliases": [], "types": ["T033"], "canonical_name": "Involvement of the corticospinal pathways"} {"concept_id": "C4020853", "aliases": [], "types": ["T033"], "canonical_name": "Ataxic tremor"} {"concept_id": "C4020854", "aliases": [], "types": ["T047"], "canonical_name": "Neuro-degenerative disease"} {"concept_id": "C4020855", "aliases": [], "types": ["T046"], "canonical_name": "Respiratory function loss"} {"concept_id": "C4020856", "aliases": [], "types": ["T033"], "canonical_name": "Terminal tremor"} {"concept_id": "C4020857", "aliases": [], "types": ["T033"], "canonical_name": "Neuronal lipopigments"} {"concept_id": "C4020858", "aliases": [], "types": ["T047"], "canonical_name": "Choreatic disease"} {"concept_id": "C4020859", "aliases": [], "types": ["T047"], "canonical_name": "Pyramidal tract disease"} {"concept_id": "C4020860", "aliases": [], "types": ["T047"], "canonical_name": "Supratentorial atrophy"} {"concept_id": "C4020861", "aliases": [], "types": ["T190"], "canonical_name": "Depressed philtrum"} {"concept_id": "C4020862", "aliases": ["Abnormality of cells of the erythroid lineage", "Abnormality of erythroid lineage cell"], "types": ["T033"], "canonical_name": "Abnormal erythroid lineage cell morphology", "definition": "An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. [DDD:akelly]"} {"concept_id": "C4020863", "aliases": [], "types": ["T047"], "canonical_name": "Blood platelet disease"} {"concept_id": "C4020865", "aliases": [], "types": ["T019"], "canonical_name": "Fibular polydactyly"} {"concept_id": "C4020866", "aliases": [], "types": ["T019"], "canonical_name": "Equinovalgus deformity"} {"concept_id": "C4020867", "aliases": [], "types": ["T019"], "canonical_name": "Persistant truncus arteriosus"} {"concept_id": "C4020868", "aliases": [], "types": ["T033"], "canonical_name": "Elevated heart rate"} {"concept_id": "C4020869", "aliases": ["Abnormality of the abdomen", "Abnormality of abdomen morphology", "Abdomen abnormality", "Abnormality of abdomen structure"], "types": ["T190"], "canonical_name": "Abnormal abdomen morphology", "definition": "A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. [HPO:probinson]"} {"concept_id": "C4020870", "aliases": ["Abnormality of the hip joint", "Abnormality of the hip joints"], "types": ["T190"], "canonical_name": "Abnormal hip joint morphology", "definition": "An abnormality of the hip joint. [HPO:probinson]"} {"concept_id": "C4020873", "aliases": [], "types": ["T047"], "canonical_name": "Infratentorial atrophy"} {"concept_id": "C4020874", "aliases": [], "types": ["T033"], "canonical_name": "No development of motor milestones"} {"concept_id": "C4020875", "aliases": [], "types": ["T046"], "canonical_name": "Mental and motor retardation"} {"concept_id": "C4020876", "aliases": [], "types": ["T033"], "canonical_name": "Dull intelligence"} {"concept_id": "C4020878", "aliases": [], "types": ["T033"], "canonical_name": "Diffusely thickened skin"} {"concept_id": "C4020879", "aliases": [], "types": ["T033"], "canonical_name": "Stippled pigmentation"} {"concept_id": "C4020880", "aliases": [], "types": ["T033"], "canonical_name": "Ruddy face"} {"concept_id": "C4020881", "aliases": [], "types": ["T190"], "canonical_name": "Abnormalities of sweating"} {"concept_id": "C4020882", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the backbone"} {"concept_id": "C4020883", "aliases": [], "types": ["T190"], "canonical_name": "Hypoplastic sternum"} {"concept_id": "C4020884", "aliases": [], "types": ["T047"], "canonical_name": "Anxiety disease"} {"concept_id": "C4020885", "aliases": [], "types": ["T033"], "canonical_name": "Difficulties with night vision"} {"concept_id": "C4020886", "aliases": [], "types": ["T033"], "canonical_name": "Defective or absent horizontal voluntary eye movements"} {"concept_id": "C4020887", "aliases": [], "types": ["T184"], "canonical_name": "Photodysphoria"} {"concept_id": "C4020888", "aliases": [], "types": ["T033"], "canonical_name": "Epithelial corneal erosions"} {"concept_id": "C4020889", "aliases": [], "types": ["T047"], "canonical_name": "Cornela disease"} {"concept_id": "C4020890", "aliases": ["Notched tip of nose"], "types": ["T033"], "canonical_name": "Notched nasal tip"} {"concept_id": "C4020891", "aliases": [], "types": ["T033"], "canonical_name": "Pinched nasal bridge"} {"concept_id": "C4020892", "aliases": [], "types": ["T019"], "canonical_name": "Capuchin ears"} {"concept_id": "C4020894", "aliases": [], "types": ["T033"], "canonical_name": "Submucous clefting"} {"concept_id": "C4020895", "aliases": [], "types": ["T190"], "canonical_name": "Genitourinary dysplasia"} {"concept_id": "C4020896", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of genital physiology"} {"concept_id": "C4020897", "aliases": [], "types": ["T033"], "canonical_name": "Uroureter"} {"concept_id": "C4020898", "aliases": [], "types": ["T047"], "canonical_name": "Overactive bladder syndrome"} {"concept_id": "C4020899", "aliases": [], "types": ["T033"], "canonical_name": "Autosomal recessive predisposition"} {"concept_id": "C4020900", "aliases": ["Abnormality of the arm", "Abnormality of the upper limb"], "types": ["T190"], "canonical_name": "Abnormality of the upper limb", "definition": "An abnormality of the arm. [HPO:probinson]"} {"concept_id": "C4020901", "aliases": ["Broad xiphisternum"], "types": ["T033"], "canonical_name": "Broad xiphoid process", "definition": "Increased side-to-side width of the xiphoid process of the sternum. [HPO:probinson]"} {"concept_id": "C4020902", "aliases": ["Abnormality of urine alpha ketoglutarate concentration", "Abnormal urinary 2-oxoglutarate level"], "types": ["T033"], "canonical_name": "Abnormal urine alpha-ketoglutarate concentration", "definition": "A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. [HPO:probinson]"} {"concept_id": "C4020903", "aliases": ["Partial/complete duplication of the phalanges of the 5th toe", "Duplication of the bones of the pinky toe", "Duplication of the bones of the pinkie toe", "Duplication of the bones of the little toe", "Duplication of the phalanges of the fifth toe"], "types": ["T190"], "canonical_name": "Duplication of the phalanges of the 5th toe", "definition": "Partial or complete duplication of one or more phalanx of little toe. [HPO:probinson]"} {"concept_id": "C4020904", "aliases": ["Tomacula"], "types": ["T047"], "canonical_name": "Myelin tomacula", "definition": "The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage). [HPO:jbeats, PMID:10727485]"} {"concept_id": "C4020905", "aliases": ["Osteolytic defects of the phalanges of the thumb"], "types": ["T190"], "canonical_name": "Osteolytic defect of thumb phalanx", "definition": "Dissolution or degeneration of bone tissue of one or more phalanges of the thumb. [HPO:probinson]"} {"concept_id": "C4020906", "aliases": ["Absent epiphyses of the hallux", "Absent end part of big toe bone"], "types": ["T190"], "canonical_name": "Absent hallux epiphysis", "definition": "Failure to form (agenesis) of one or more epiphyses of the big toe. [HPO:probinson]"} {"concept_id": "C4020907", "aliases": ["Dappled metaphyseal sclerosis"], "types": ["T033"], "canonical_name": "Metaphyseal dappling", "definition": "The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. [HPO:probinson]"} {"concept_id": "C4020908", "aliases": ["White matter hypointensities on MRI"], "types": ["T033"], "canonical_name": "Hypointensity of cerebral white matter on MRI", "definition": "A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. [HPO:probinson]"} {"concept_id": "C4020909", "aliases": ["Ala lower than columella", "Columella, high insertion"], "types": ["T033"], "canonical_name": "High insertion of columella", "definition": "Insertion of the posterior columella superior to the nasal base. [PMID:19152422]"} {"concept_id": "C4020910", "aliases": ["Hypertrophic antihelix stem", "Hyperplastic antihelix stem"], "types": ["T190"], "canonical_name": "Prominent stem of antihelix", "definition": "Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix. [PMID:19152421]"} {"concept_id": "C4020911", "aliases": ["Dendritic corneal epithelial ulcer", "Herpetiform corneal ulcers"], "types": ["T047"], "canonical_name": "Herpetiform corneal ulceration", "definition": "The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining. [HPO:probinson]"} {"concept_id": "C4020912", "aliases": ["Flared wide portion of long bone of upper arm", "Wide/broad humeral metaphysis"], "types": ["T190"], "canonical_name": "Flared humeral metaphysis", "definition": "Flaring (increase of width with a splayed appearance) of the humeral metaphysis. [HPO:probinson]"} {"concept_id": "C4020913", "aliases": ["Broad growth plates of upper limbs", "Broad epiphyseal plates of the upper limbs"], "types": ["T190"], "canonical_name": "Wide epiphyseal plates of the upper limbs"} {"concept_id": "C4020914", "aliases": ["Abnormality of vomer", "Defect of vomer", "Abnormality of vomer bone"], "types": ["T190"], "canonical_name": "Abnormal vomer morphology", "definition": "An abnormality of the vomer. [GOC:NV]"} {"concept_id": "C4020915", "aliases": ["Concha, Extra Fold"], "types": ["T190"], "canonical_name": "Extra concha fold", "definition": "Folds or ridges within the concha that are distinct from the crus helix. [eom:40563f1f62db2319, PMID:19152421]"} {"concept_id": "C4020916", "aliases": ["Chin, vertical crease", "Chin with vertical sulcus", "Vertical chin skin cleft", "Chin with vertical furrow", "Chin with vertical groove", "Vertical menton crease", "Chin with vertical crease"], "types": ["T190"], "definition": "Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest. [eom:8a5493c72e0dd13c, PMID:19125436]", "canonical_name": "Cleft chin"} {"concept_id": "C4020917", "aliases": ["Absent nail of fifth finger", "Absent fifth fingernail"], "types": ["T190"], "canonical_name": "Absent fifth fingernail", "definition": "Absence of nail of little finger. [HPO:probinson]"} {"concept_id": "C4020918", "aliases": ["Dysharmonic skeletal maturation"], "types": ["T046"], "canonical_name": "Dysharmonic bone age", "definition": "Different levels of maturation of different bones. [HPO:probinson]"} {"concept_id": "C4020919", "aliases": ["Transverse metaphyseal bands", "Dense metaphyseal lines"], "types": ["T033"], "canonical_name": "Dense metaphyseal bands", "definition": "Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex. [HPO:sdoelken, PMID:10352605]"} {"concept_id": "C4020920", "aliases": ["Enlarged longitudinal fissure", "Enlarged longitudinal cerebral fissure", "Enlarged great longitudinal fissure"], "types": ["T033"], "canonical_name": "Enlarged interhemispheric fissure"} {"concept_id": "C4020921", "aliases": ["Enlarged lateral sulcus", "Enlarged lateral fissure", "Enlarged sylvian fissure"], "types": ["T033"], "canonical_name": "Enlarged sylvian cistern", "definition": "An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure). [HPO:probinson]"} {"concept_id": "C4020922", "aliases": ["Enlarged interpeduncular cistern", "Enlarged basal cistern"], "types": ["T033"], "canonical_name": "Enlarged fossa interpeduncularis"} {"concept_id": "C4020923", "aliases": ["Increased bone density in the outermost bone of the toes", "Sclerosis of the distal phalanges of the toes"], "types": ["T190"], "canonical_name": "Sclerosis of distal toe phalanx", "definition": "An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020924", "aliases": ["Increased bone density in middle toe bone", "Sclerosis of the middle phalanges of the toes"], "types": ["T046"], "canonical_name": "Sclerosis of middle toe phalanx", "definition": "An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020925", "aliases": ["Increased bone density in innermost toe bone", "Sclerosis of the proximal phalanges of the toes"], "types": ["T190"], "canonical_name": "Sclerosis of proximal toe phalanx", "definition": "An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020926", "aliases": ["Sclerosis of the phalanges of the hallux", "Increased bone density in big toe bone"], "types": ["T190"], "canonical_name": "Sclerosis of hallux phalanx", "definition": "An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020927", "aliases": ["Sclerosis of the phalanges of the 5th toe", "Increased bone density in pinky toe bone", "Increased bone density in pinkie toe bone", "Increased bone density in little toe bone"], "types": ["T190"], "canonical_name": "Sclerosis of 5th toe phalanx", "definition": "An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020928", "aliases": ["Sclerosis of the phalanges of the 4th toe", "Increased bone density in 4th toe bone"], "types": ["T190"], "canonical_name": "Sclerosis of 4th toe phalanx", "definition": "An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020929", "aliases": ["Increased bone density in 3rd toe bone", "Sclerosis of the phalanges of the 3rd toe"], "types": ["T190"], "canonical_name": "Sclerosis of 3rd toe phalanx", "definition": "An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020930", "aliases": ["Sclerosis of the phalanges of the 2nd toe", "Increased bone density in 2nd toe bone"], "types": ["T190"], "canonical_name": "Sclerosis of 2nd toe phalanx", "definition": "An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020931", "aliases": ["Increased bone density in foot bone", "Sclerosis of bones of the feet"], "types": ["T047"], "canonical_name": "Sclerosis of foot bone", "definition": "An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020932", "aliases": ["Increased bone density in the toe bone", "Sclerosis of the phalanges of the toes"], "types": ["T190"], "canonical_name": "Sclerosis of toe phalanx", "definition": "An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020933", "aliases": ["Increased bone density in thumb bone", "Sclerosis of the phalanges of the thumb"], "types": ["T046"], "canonical_name": "Sclerosis of thumb phalanx"} {"concept_id": "C4020934", "aliases": ["Increased bone density in little finger bone", "Increased bone density in pinky finger bone", "Sclerosis of the phalanges of the 5th finger", "Increased bone density in pinkie finger bone"], "types": ["T190"], "canonical_name": "Sclerosis of 5th finger phalanx", "definition": "An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020935", "aliases": ["Increased bone density in ring finger bone", "Sclerosis of the phalanges of the 4th finger"], "types": ["T190"], "canonical_name": "Sclerosis of 4th finger phalanx", "definition": "An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020936", "aliases": ["Increased bone density in middle finger bone", "Sclerosis of the phalanges of the 3rd finger"], "types": ["T190"], "canonical_name": "Sclerosis of 3rd finger phalanx", "definition": "An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020937", "aliases": ["Increased bone density in 2nd finger bone", "Sclerosis of the phalanges of the 2nd finger"], "types": ["T190"], "canonical_name": "Sclerosis of 2nd finger phalanx", "definition": "An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020938", "aliases": ["Increased bone density in innermost finger bone", "Sclerosis of the proximal phalanges of the hand"], "types": ["T190"], "canonical_name": "Sclerosis of proximal finger phalanx", "definition": "An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020939", "aliases": ["Increased bone density in middle finger bone of hand", "Sclerosis of the middle phalanges of the hand"], "types": ["T190"], "canonical_name": "Sclerosis of middle finger phalanx", "definition": "An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020940", "aliases": ["Sclerosis of the distal phalanges of the hand", "Increased bone density in outermost finger bone"], "types": ["T190"], "canonical_name": "Sclerosis of distal finger phalanx", "definition": "An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020941", "aliases": ["Increased bone density in the finger bone", "Sclerosis of the phalanges of the hand"], "types": ["T190"], "canonical_name": "Sclerosis of finger phalanx", "definition": "An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4020942", "aliases": ["Prominent xiphisternum"], "types": ["T190"], "canonical_name": "Prominent xiphoid process", "definition": "Increased prominence of the xiphoid process of the sternum. [HPO:probinson]"} {"concept_id": "C4020943", "aliases": ["Bifid xiphisternum"], "types": ["T190"], "canonical_name": "Bifid xiphoid process", "definition": "A cleft of the xiphoid process of the sternum. [HPO:sdoelken]"} {"concept_id": "C4020944", "aliases": ["Abnormality of the common bile duct"], "types": ["T190"], "canonical_name": "Abnormality of the ductus choledochus", "definition": "An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder. [HPO:sdoelken]"} {"concept_id": "C4020945", "aliases": ["Vein of servelle", "Lateral marginal vein of Servelle"], "types": ["T190"], "canonical_name": "Lateral venous anomaly", "definition": "Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life. [HPO:sdoelken]"} {"concept_id": "C4020946", "aliases": ["Minor feet anomalies"], "types": ["T190"], "canonical_name": "Abnormality of the plantar skin of foot", "definition": "An abnormality of the plantar part of foot, that is of the soles of the feet. [HPO:probinson]"} {"concept_id": "C4020947", "aliases": ["Teleangiectases of soles", "Plantar teleangiectasia", "Telangiectases of soles"], "types": ["T190"], "canonical_name": "Plantar telangiectasia", "definition": "Telangiectases (small dilated blood vessels) located on the skin of sole of foot. [HPO:probinson]"} {"concept_id": "C4020948", "aliases": ["Teleangiectases of palms", "Telangiectases of palms and soles"], "types": ["T190"], "canonical_name": "Palmar telangiectasia", "definition": "The presence of telangiectases on the skin of palm of hand. [HPO:probinson]"} {"concept_id": "C4020949", "aliases": ["Abnormal emotion/affect behaviour"], "types": ["T046"], "canonical_name": "Abnormal emotion/affect behavior", "definition": "An abnormality of emotional behaviour. [HPO:sdoelken]"} {"concept_id": "C4020950", "aliases": ["Neoplasia of the male external genitalia"], "types": ["T191"], "canonical_name": "Neoplasm of the male external genitalia", "definition": "A tumor (abnormal growth of tissue) of the male external genitalia. [HPO:sdoelken]"} {"concept_id": "C4020951", "aliases": ["Spock's ear", "Vulcan ear", "Elfin ear", "Pointed helix", "Spock ear"], "types": ["T190"], "canonical_name": "Pointed ear"} {"concept_id": "C4020952", "aliases": ["Abnormal fingernail development", "Dysplastic fingernails"], "types": ["T047"], "canonical_name": "Fingernail dysplasia", "definition": "An abnormality of the development of the fingernails. [HPO:probinson]"} {"concept_id": "C4020953", "aliases": ["Abnormal shape of the end part of the vertebra bone", "Abnormality of the vertebral epiphyses"], "types": ["T190"], "canonical_name": "Abnormality of vertebral epiphysis morphology", "definition": "An anomaly of one or more epiphyses of one or more vertebrae. []"} {"concept_id": "C4020954", "aliases": ["Transverse facial cleft"], "types": ["T190"], "definition": "A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear. [DDD:jhurst]", "canonical_name": "Lateral facial cleft"} {"concept_id": "C4020955", "aliases": ["Abnormality of the arachnoid mater", "Abnormality of the arachnoidea"], "types": ["T190"], "canonical_name": "Abnormal arachnoid mater morphology", "definition": "An abnormality of the Arachnoid mater. [HPO:sdoelken]"} {"concept_id": "C4020956", "aliases": ["Steep corneal curvature"], "types": ["T033"], "canonical_name": "Increased corneal curvature", "definition": "An increase in the degree of curvature of the cornea compared to normal. [DDD:ncarter]"} {"concept_id": "C4020957", "aliases": ["Abnormality of bone trabeculation", "Abnormal shape of spongy bone"], "types": ["T190"], "canonical_name": "Abnormal trabecular bone morphology", "definition": "Abnormal structure or form of trabecular bone. [HPO:probinson]"} {"concept_id": "C4020958", "aliases": ["Coarse trabeculation at metaphyses", "Rough trabeculation of bone", "Rough bone trabeculation"], "types": ["T190"], "canonical_name": "Coarse metaphyseal trabecularization", "definition": "Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. [PMID:409205]"} {"concept_id": "C4020959", "aliases": ["Abnormal pigmentation of the oral mucosa/gingivae", "Abnormal pigmentation of oral mucous membrane", "Abnormal pigmentation of oral cavity", "Abnormal color of the oral mucosa"], "types": ["T033"], "canonical_name": "Abnormal pigmentation of the oral mucosa", "definition": "An abnormality of the pigmentation of the mucosa of the mouth. [HPO:probinson]"} {"concept_id": "C4020960", "aliases": ["Nail dyschromia", "Abnormality of nail color", "Abnormality of nail colour"], "types": ["T033"], "canonical_name": "Abnormality of nail color", "definition": "An anomaly of the color of the nail. [HPO:probinson]"} {"concept_id": "C4020961", "aliases": ["Displacement of the external urethral orifice", "Displacement of the male external urethral orifice"], "types": ["T190"], "canonical_name": "Displacement of the urethral meatus", "definition": "A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). [HPO:sdoelken]"} {"concept_id": "C4020962", "aliases": ["Wide thorax", "Wide rib cage"], "types": ["T033"], "canonical_name": "Enlarged thorax"} {"concept_id": "C4020963", "aliases": ["Missing nostrils", "Abouphalia", "Aplasia of the nares"], "types": ["T033"], "canonical_name": "Absent nares", "definition": "The nostrils (the paired channels of the nose) are not present. [HPO:probinson]"} {"concept_id": "C4020964", "aliases": ["Congenital ventricular aneurysm"], "types": ["T019"], "canonical_name": "Fibrous cardiac diverticulum", "definition": "A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly. [HPO:sdoelken]"} {"concept_id": "C4020966", "aliases": ["Abnormal bone maturation of vertebra", "Abnormality of ossification/mineralisation of vertebrae", "Abnormal vertebral ossification"], "types": ["T190"], "canonical_name": "Abnormally ossified vertebrae", "definition": "An abnormality of the formation and mineralization of one or more vertebrae. [HPO:probinson]"} {"concept_id": "C4020967", "aliases": ["Abnormal shape of forebrain", "Abnormality of the forebrain"], "types": ["T190"], "canonical_name": "Abnormality of forebrain morphology", "definition": "An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. [HPO:probinson]"} {"concept_id": "C4020968", "aliases": ["Abnormal localisation of kidneys"], "types": ["T190"], "canonical_name": "Abnormal localization of kidney", "definition": "An abnormal site of the kidney. [HPO:probinson]"} {"concept_id": "C4020969", "aliases": ["Ocular inflammation", "Inflammatory abnormality of the eye"], "types": ["T047"], "canonical_name": "Inflammatory abnormality of the eye", "definition": "Inflammation of the eye, parts of the eye or the periorbital region. [HPO:sdoelken]"} {"concept_id": "C4020970", "aliases": ["Lateral deviation of toes"], "types": ["T190"], "canonical_name": "Fibular deviation of toes"} {"concept_id": "C4020971", "aliases": ["Abnormality of lower limb joint", "Abnormality of the joints of the lower limbs"], "types": ["T190"], "canonical_name": "Abnormality of lower limb joint"} {"concept_id": "C4020972", "aliases": ["Symphalangism of the middle and proximal phalanges of the 2nd toe", "Fused middle and innermost bones of 2nd toe"], "types": ["T190"], "canonical_name": "Proximal/middle symphalangism of 2nd toe", "definition": "Bony fusion of the middle and proximal phalanges of the 2nd toe. [HPO:sdoelken]"} {"concept_id": "C4020973", "aliases": ["Symphalangism of the middle and proximal phalanges of the 5th toe", "Fused innermost and middle pinkie toe bones", "Fused innermost and middle little toe bones", "Fused innermost and middle pinky toe bones"], "types": ["T190"], "canonical_name": "Proximal/middle symphalangism of 5th toe", "definition": "Bony fusion of the middle and proximal phalanges of the 5th toe. [HPO:sdoelken]"} {"concept_id": "C4020974", "aliases": ["Symphalangism of the middle and proximal phalanges of the 4th toe", "Fused innermost and middle bones of 4th toe"], "types": ["T190"], "canonical_name": "Proximal/middle symphalangism of 4th toe", "definition": "Bony fusion of the middle and proximal phalanges of the 4th toe. [HPO:sdoelken]"} {"concept_id": "C4020975", "aliases": ["Symphalangism of the middle and proximal phalanges of the 3rd toe", "Fused innermost and middle bones of 3rd toe"], "types": ["T190"], "canonical_name": "Proximal/middle symphalangism of 3rd toe", "definition": "Bony fusion of the middle and proximal phalanges of the 3rd toe. [HPO:sdoelken]"} {"concept_id": "C4020976", "aliases": ["Partial duplication of the innermost bone of the pinkie toe", "Partial duplication of the innermost bone of the little toe", "Partial duplication of the proximal phalanx of the fifth toe", "Partial duplication of the innermost bone of the pinky toe"], "types": ["T190"], "canonical_name": "Partial duplication of the proximal phalanx of the 5th toe", "definition": "Partial duplication of the proximal phalanx of fifth toe. [HPO:sdoelken]"} {"concept_id": "C4020977", "aliases": ["Partial duplication of the innermost bone of 3rd toe", "Partial duplication of the proximal phalanx of the third toe"], "types": ["T190"], "canonical_name": "Partial duplication of the proximal phalanx of the 3rd toe", "definition": "Partial duplication of proximal phalanx of third toe. [HPO:probinson]"} {"concept_id": "C4020978", "aliases": ["Partial duplication of the middle bone of the pinky toe", "Partial duplication of the middle bone of the pinkie toe", "Partial duplication of the middle phalanx of the fifth toe", "Partial duplication of the middle bone of the little toe"], "types": ["T190"], "canonical_name": "Partial duplication of the middle phalanx of the 5th toe", "definition": "Partial duplication of the middle phalanx of the 5th toe. [HPO:probinson]"} {"concept_id": "C4020979", "aliases": ["Partial duplication of the middle phalanx of the fourth toe", "Partial duplication of the middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Partial duplication of the middle phalanx of the 4th toe", "definition": "Partial duplication of middle phalanx of fourth toe. [HPO:sdoelken]"} {"concept_id": "C4020980", "aliases": ["Partial duplication of the middle bone of 3rd toe", "Partial duplication of the middle phalanx of the third toe"], "types": ["T190"], "canonical_name": "Partial duplication of the middle phalanx of the 3rd toe", "definition": "Partial duplication of middle phalanx of third toe. [HPO:probinson]"} {"concept_id": "C4020981", "aliases": ["Partial duplication of the outermost bone of the fifth toe", "Partial duplication of the outermost bone of the pinky toe", "Partial duplication of the outermost bone of the little toe", "Partial duplication of the distal phalanx of the fifth toe", "Partial duplication of the outermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Partial duplication of the distal phalanx of the 5th toe", "definition": "Partial duplication of the distal phalanx of little toe. [HPO:sdoelken]"} {"concept_id": "C4020982", "aliases": ["Partial duplication of the distal phalanx of the fourth toe", "Partial duplication of the outermost bone of the fourth toe"], "types": ["T190"], "canonical_name": "Partial duplication of the distal phalanx of the 4th toe", "definition": "Partial duplication of the distal phalanx of fourth toe. [HPO:sdoelken]"} {"concept_id": "C4020983", "aliases": ["Partial duplication of the distal phalanx of the third toe", "Partial duplication of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Partial duplication of the distal phalanx of the 3rd toe", "definition": "Partial duplication of distal phalanx of third toe. [HPO:sdoelken]"} {"concept_id": "C4020984", "aliases": ["Complete duplication of the innermost bone of the little toe", "Complete duplication of the innermost bone of the pinkie toe", "Complete duplication of the proximal phalanx of the fifth toe", "Complete duplication of the innermost bone of the pinky toe"], "types": ["T190"], "canonical_name": "Complete duplication of the proximal phalanx of the 5th toe", "definition": "Complete duplication of the proximal phalanx of fifth toe. [HPO:sdoelken]"} {"concept_id": "C4020985", "aliases": ["Complete duplication of the middle bone of the pinkie toe", "Complete duplication of the middle phalanx of the fifth toe", "Complete duplication of the middle bone of the pinky toe", "Complete duplication of the middle bone of the little toe"], "types": ["T190"], "canonical_name": "Complete duplication of the middle phalanx of the 5th toe", "definition": "Complete duplication of the middle phalanx of the 5th toe. [HPO:probinson]"} {"concept_id": "C4020986", "aliases": ["Complete duplication of the middle phalanx of the fourth toe", "Complete duplication of the middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Complete duplication of the middle phalanx of the 4th toe", "definition": "Complete duplication of middle phalanx of fourth toe. [HPO:sdoelken]"} {"concept_id": "C4020987", "aliases": ["Complete duplication of the middle phalanx of the third toe", "Complete duplication of the middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Complete duplication of the middle phalanx of the 3rd toe", "definition": "Complete duplication of middle phalanx of third toe. [HPO:sdoelken]"} {"concept_id": "C4020988", "aliases": ["Complete duplication of the outermost bone of the pinkie toe", "Complete duplication of the outermost bone of the pinky toe", "Complete duplication of the distal phalanx of the fifth toe", "Complete duplication of the outermost bone of the little toe"], "types": ["T019"], "canonical_name": "Complete duplication of the distal phalanx of the 5th toe", "definition": "Complete duplication of the distal phalanx of little toe. [HPO:sdoelken]"} {"concept_id": "C4020989", "aliases": ["Complete duplication of the distal phalanx of the fourth toe", "Complete duplication of the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Complete duplication of the distal phalanx of the 4th toe", "definition": "Complete duplication of the distal phalanx of fourth toe. [HPO:sdoelken]"} {"concept_id": "C4020990", "aliases": ["Complete duplication of the distal phalanx of the third toe", "Complete duplication of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Complete duplication of the distal phalanx of the 3rd toe", "definition": "Complete duplication of distal phalanx of third toe. [HPO:sdoelken]"} {"concept_id": "C4020991", "aliases": ["Partial/complete duplication of the proximal phalanx of the 5th toe", "Duplication of the innermost bone of the pinkie toe", "Duplication of the innermost bone of the little toe", "Duplication of the innermost bone of the pinky toe", "Duplication of the proximal phalanx of the fifth toe"], "types": ["T190"], "canonical_name": "Duplication of the proximal phalanx of the 5th toe", "definition": "Partial or complete duplication of the proximal phalanx of fifth toe. [HPO:probinson]"} {"concept_id": "C4020992", "aliases": ["Duplication of the proximal phalanx of the fourth toe", "Partial/complete duplication of the proximal phalanx of the 4th toe", "Duplication of the innermost 4th toe bone"], "types": ["T190"], "canonical_name": "Duplication of the proximal phalanx of the 4th toe", "definition": "Partial or complete duplication of the proximal phalanx of fourth toe. [HPO:sdoelken]"} {"concept_id": "C4020993", "aliases": ["Duplication of the proximal phalanx of the third toe", "Duplication of the innermost 3rd toe bone", "Partial/complete duplication of the proximal phalanx of the 3rd toe"], "types": ["T190"], "canonical_name": "Duplication of the proximal phalanx of the 3rd toe", "definition": "Partial or complete duplication of proximal phalanx of third toe. [HPO:sdoelken]"} {"concept_id": "C4020994", "aliases": ["Duplication of the middle bone of the pinky toe", "Duplication of the middle phalanx of the fifth toe", "Duplication of the middle bone of the pinkie toe", "Partial/complete duplication of the middle phalanx of the 5th toe", "Duplication of the middle bone of the little toe"], "types": ["T019"], "canonical_name": "Duplication of the middle phalanx of the 5th toe", "definition": "Partial or complete duplication of the middle phalanx of the 5th toe. [HPO:probinson]"} {"concept_id": "C4020995", "aliases": ["Duplication of the middle bone of the 4th toe", "Partial/complete duplication of the middle phalanx of the 4th toe", "Duplication of the middle phalanx of the fourth toe"], "types": ["T190"], "canonical_name": "Duplication of the middle phalanx of the 4th toe", "definition": "Partial or complete duplication of middle phalanx of fourth toe. [HPO:sdoelken]"} {"concept_id": "C4020996", "aliases": ["Duplication of the middle bone of the 3rd toe", "Partial/complete duplication of the middle phalanx of the 3rd toe", "Duplication of the middle phalanx of the third toe"], "types": ["T190"], "canonical_name": "Duplication of the middle phalanx of the 3rd toe", "definition": "Partial or complete duplication of middle phalanx of third toe. [HPO:sdoelken]"} {"concept_id": "C4020997", "aliases": ["Duplication of the outermost bone of the fifth toe", "Duplication of the outermost bone of the little toe", "Duplication of the distal phalanx of the fifth toe", "Partial/complete duplication of the distal phalanx of the 5th toe", "Duplication of the outermost bone of the pinkie toe", "Duplication of the outermost bone of the pinky toe"], "types": ["T190"], "canonical_name": "Duplication of the distal phalanx of the 5th toe", "definition": "Partial or complete duplication of the distal phalanx of little toe. [HPO:sdoelken]"} {"concept_id": "C4020998", "aliases": ["Duplication of the outermost bone of the 4th toe", "Duplication of the distal phalanx of the fourth toe", "Partial/complete duplication of the distal phalanx of the 4th toe"], "types": ["T190"], "canonical_name": "Duplication of the distal phalanx of the 4th toe", "definition": "Partial or complete duplication of the distal phalanx of fourth toe. [HPO:sdoelken]"} {"concept_id": "C4020999", "aliases": ["Duplication of the distal phalanx of the third toe", "Duplication of the outermost bone of the 3rd toe", "Partial/complete duplication of the distal phalanx of the 3rd toe"], "types": ["T190"], "canonical_name": "Duplication of the distal phalanx of the 3rd toe", "definition": "Partial or complete duplication of distal phalanx of third toe. [HPO:probinson]"} {"concept_id": "C4021000", "aliases": ["Short innermost bone of pinky toe", "Short proximal phalanx of the fifth toe", "Short innermost bone of little toe", "Short innermost bone of pinkie toe", "Hypoplastic/small proximal phalanx of the 5th toe"], "types": ["T190"], "canonical_name": "Short proximal phalanx of the 5th toe", "definition": "Developmental hypoplasia of the proximal phalanx of fifth toe. [HPO:probinson]"} {"concept_id": "C4021001", "aliases": ["Short proximal phalanx of the fourth toe", "Hypoplastic/small proximal phalanx of the 4th toe", "Short fourth toe proximal phalanx"], "types": ["T190"], "canonical_name": "Short proximal phalanx of the 4th toe", "definition": "Developmental hypoplasia of the proximal phalanx of fourth toe. [HPO:probinson]"} {"concept_id": "C4021002", "aliases": ["Short proximal phalanx of the third toe", "Hypoplastic/small proximal phalanx of the 3rd toe"], "types": ["T190"], "canonical_name": "Short proximal phalanx of the 3rd toe", "definition": "Abnormal reduction in length of proximal phalanx of third toe. [HPO:probinson]"} {"concept_id": "C4021003", "aliases": ["Short middle phalanx of the fifth toe", "Short middle bone of little toe", "Short middle bone of pinkie toe", "Hypoplastic/small middle phalanx of the 5th toe", "Short middle bone of pinky toe"], "types": ["T190"], "canonical_name": "Short middle phalanx of the 5th toe", "definition": "Developmental hypoplasia of the middle phalanx of the 5th toe. [HPO:probinson]"} {"concept_id": "C4021004", "aliases": ["Short middle bone of 4th toe", "Hypoplastic/small middle phalanx of the 4th toe", "Short middle phalanx of the fourth toe"], "types": ["T190"], "canonical_name": "Short middle phalanx of the 4th toe", "definition": "Developmental hypoplasia of the middle phalanx of fourth toe. [HPO:sdoelken]"} {"concept_id": "C4021005", "aliases": ["Hypoplastic/small middle phalanx of the 3rd toe", "Short middle phalanx of the third toe"], "types": ["T190"], "canonical_name": "Short middle phalanx of the 3rd toe", "definition": "Developmental hypoplasia of the middle phalanx of third toe. [HPO:sdoelken]"} {"concept_id": "C4021006", "aliases": ["Short distal phalanx of the fifth toe", "Short outermost bone of the pinky toe", "Short outermost bone of the little toe", "Hypoplastic/small distal phalanx of the 5th toe", "Short outermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Short distal phalanx of the 5th toe", "definition": "Developmental hypoplasia of the distal phalanx of little toe. [HPO:sdoelken]"} {"concept_id": "C4021007", "aliases": ["Hypoplastic/small distal phalanx of the 4th toe", "Short outermost bone of the 4th toe", "Short distal phalanx of the fourth toe"], "types": ["T190"], "canonical_name": "Short distal phalanx of the 4th toe", "definition": "Developmental hypoplasia of the distal phalanx of fourth toe. [HPO:sdoelken]"} {"concept_id": "C4021008", "aliases": ["Hypoplastic/small distal phalanx of the 3rd toe", "Short distal phalanx of the third toe", "Short outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Short distal phalanx of the 3rd toe", "definition": "Developmental hypoplasia of the distal phalanx of third toe. [HPO:probinson]"} {"concept_id": "C4021009", "aliases": ["Aplasia of the proximal phalanx of the 3rd toe", "Absent innermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Absent proximal phalanx of the 3rd toe", "definition": "Absence of proximal phalanx of third toe, owing to a congenital defect of development. [HPO:probinson]"} {"concept_id": "C4021010", "aliases": ["Absent middle phalanx of the third toe", "Absent middle bone of the 3rd toe", "Aplasia of the middle phalanx of the 3rd toe"], "types": ["T033"], "canonical_name": "Absent middle phalanx of the 3rd toe", "definition": "Developmental aplasia of the middle phalanx of third toe. [HPO:sdoelken]"} {"concept_id": "C4021011", "aliases": ["Absent distal phalanx of the third toe", "Absent outermost bone of the 3rd toe", "Aplasia of the distal phalanx of the 3rd toe"], "types": ["T033"], "canonical_name": "Absent distal phalanx of the 3rd toe", "definition": "Developmental aplasia of the distal phalanx of third toe. [HPO:sdoelken]"} {"concept_id": "C4021012", "aliases": ["Short pinky toe bone", "Hypoplastic/small phalanges of the 5th toe", "Short pinkie toe bone", "Short little toe bone", "Short phalanx of the fifth toe"], "types": ["T190"], "canonical_name": "Short phalanx of the 5th toe", "definition": "Developmental hypoplasia of one or more phalanx of little toe. [HPO:probinson]"} {"concept_id": "C4021013", "aliases": ["Hypoplastic/small phalanges of the 4th toe", "Short 4th toe bone", "Short phalanx of the fourth toe"], "types": ["T190"], "canonical_name": "Short phalanx of the 4th toe", "definition": "Developmental hypoplasia of one or more phalanx of fourth toe. [HPO:probinson]"} {"concept_id": "C4021014", "aliases": ["Short 3rd toe bone", "Hypoplastic/small phalanges of the 3rd toe", "Short phalanx of the third toe"], "types": ["T190"], "canonical_name": "Short phalanx of the 3rd toe", "definition": "Developmental hypoplasia of the phalanx of third toe. [HPO:sdoelken]"} {"concept_id": "C4021015", "aliases": ["Contracture of the distal interphalangeal joint of the second toe"], "types": ["T190"], "canonical_name": "Contracture of the distal interphalangeal joint of the 2nd toe", "definition": "The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4021016", "aliases": ["Camptodactyly of the 5th toe", "Camptodactyly of the fifth toe"], "types": ["T190"], "canonical_name": "Contractures of the proximal interphalangeal joint of the 5th toe", "definition": "The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4021017", "aliases": ["Camptodactyly of the fourth toe", "Camptodactyly of the 4th toe", "Contracture of the innermost hinge joint of the 4th toe"], "types": ["T190"], "canonical_name": "Contracture of the proximal interphalangeal joint of the 4th toe", "definition": "The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4021018", "aliases": ["Camptodactyly of the 3rd toe"], "types": ["T190"], "canonical_name": "Contracture of the proximal interphalangeal joint of the 3rd toe", "definition": "The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. [UToronto:htrang]"} {"concept_id": "C4021019", "aliases": ["Camptodactyly of the second toe", "Camptodactyly of the 2nd toe"], "types": ["T190"], "canonical_name": "Contracture of the proximal interphalangeal joint of the 2nd toe", "definition": "The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4021020", "aliases": ["Paramedian cleft of the upper lip", "Non-midline cleft of the upper lip"], "types": ["T019"], "canonical_name": "Non-midline cleft lip", "definition": "Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. [HPO:probinson]"} {"concept_id": "C4021021", "aliases": ["Cerebral colloid bodies"], "types": ["T190"], "canonical_name": "Cerebral hyaline bodies", "definition": "Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance. [HPO:sdoelken]"} {"concept_id": "C4021022", "aliases": ["Agyrophilic inclusion bodies", "Pick inclusion bodies"], "types": ["T033"], "canonical_name": "Argyrophilic inclusion bodies", "definition": "Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue. [HPO:sdoelken]"} {"concept_id": "C4021023", "aliases": ["Muscle fibre tubuloreticular inclusions", "Muscle fiber tubuloreticular aggregates", "Muscle fibre tubuloreticular aggregates"], "types": ["T033"], "canonical_name": "Muscle fiber tubuloreticular inclusions"} {"concept_id": "C4021024", "aliases": ["Muscle fibre tubular inclusions", "Muscle fiber tubular aggregates", "Muscle fibre tubular aggregates"], "types": ["T190"], "canonical_name": "Muscle fiber tubular inclusions", "definition": "Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities. [HPO:sdoelken, PMID:15113116]"} {"concept_id": "C4021025", "aliases": ["Wrist bone/ankle bone fusions", "Coalescence of carpal and tarsal bones", "Carpal and tarsal fusions", "Fusion of carpal and tarsal bones"], "types": ["T190"], "canonical_name": "Synostosis of carpals/tarsals", "definition": "The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. [HPO:sdoelken]"} {"concept_id": "C4021026", "aliases": ["Abnormality of the sinew", "Abnormal shape of tendon"], "types": ["T190"], "canonical_name": "Abnormal tendon morphology", "definition": "An abnormality of the structure or form of the tendons, also often called sinews. [HPO:sdoelken]"} {"concept_id": "C4021027", "aliases": ["Abnormality of the marrow cavity of the long bones"], "types": ["T190"], "canonical_name": "Abnormality of the medullary cavity of the long bones", "definition": "An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored. [HPO:sdoelken]"} {"concept_id": "C4021028", "aliases": ["Looser zones"], "types": ["T190"], "canonical_name": "Pseudo-fractures", "definition": "A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture. [HPO:sdoelken]"} {"concept_id": "C4021029", "aliases": ["Happy aspect", "Conspicious happy aspect"], "types": ["T033"], "canonical_name": "Conspicuously happy disposition", "definition": "An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger. [HPO:sdoelken]"} {"concept_id": "C4021031", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal motor nerve conduction velocity"} {"concept_id": "C4021032", "aliases": ["Abnormal serum cobalamin level"], "types": ["T033"], "canonical_name": "Abnormal vitamin B12 level", "definition": "A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. [HPO:probinson]"} {"concept_id": "C4021034", "aliases": ["Morphological abnormality of the horizontal semicircular canal"], "types": ["T190"], "canonical_name": "Morphological abnormality of the lateral semicircular canal"} {"concept_id": "C4021035", "aliases": ["Abnormality of the oval window"], "types": ["T190"], "canonical_name": "Abnormality of the vestibular window"} {"concept_id": "C4021036", "aliases": ["Abnormal number of natural killer cells", "Abnormality of natural killer cell count", "Abnormal NK cell count", "Abnormal natural killer cell count"], "types": ["T033"], "canonical_name": "Abnormal natural killer cell count", "definition": "Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes. [PMID:19278419]"} {"concept_id": "C4021037", "aliases": ["Abnormality of folate in blood", "Abnormal serum folate"], "types": ["T033"], "canonical_name": "Abnormal blood folate concentration", "definition": "Any deviation from the normal concentration of folate in the blood circulation. []"} {"concept_id": "C4021038", "aliases": ["Abnormal circulating renin", "Abnormal plasma renin"], "types": ["T033"], "canonical_name": "Abnormal circulating renin", "definition": "A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. [PMID:12949225]"} {"concept_id": "C4021039", "aliases": ["Absence of CD4+CD25+ T regulatory cells", "Absence of CD4+CD25+ Tregs"], "types": ["T033"], "canonical_name": "Absence of CD4-positive, CD25-positive regulatory T cells", "definition": "Lack of CD4+CD25+ T regulatory cells. [HPO:probinson]"} {"concept_id": "C4021040", "aliases": ["Genitalia, ephelides", "Freckled genitalia"], "types": ["T033"], "canonical_name": "Freckled genitalia", "definition": "One or more brown punctate macules on the skin of the genitalia. [HPO:probinson, PMID:23650202]"} {"concept_id": "C4021041", "aliases": ["Maternal fever during pregnancy"], "types": ["T033"], "canonical_name": "Maternal fever in pregnancy", "definition": "The occurence of an elevated body temperature of the mother during pregnancy. [HPO:probinson, PMID:24567014]"} {"concept_id": "C4021042", "aliases": ["Bethlem phenomenon"], "types": ["T033"], "canonical_name": "Bethlem sign", "definition": "Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures. [Neuromics:vstraub]"} {"concept_id": "C4021043", "aliases": ["Muscle fiber desmin-reactive inclusion bodies", "Muscle fibre desmin-reactive inclusion bodies", "Accumulation of muscle fibre desmin"], "types": ["T033"], "canonical_name": "Accumulation of muscle fiber desmin", "definition": "Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy. [Neuromics:vstraub]"} {"concept_id": "C4021044", "aliases": ["Anti-MUSK antibodies"], "types": ["T033"], "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab). [PMID:22770539, UNCL:hlochmueller]", "canonical_name": "Muscle specific kinase antibody positivity"} {"concept_id": "C4021045", "aliases": ["Increased jitter at single fibre EMG", "Increased jitter at single fibre electromyography"], "types": ["T033"], "canonical_name": "Increased jitter at single fiber EMG", "definition": "The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). [PMID:21654930, UK:rheller]"} {"concept_id": "C4021046", "aliases": ["Abnormal PNS synaptic transmission"], "types": ["T190"], "canonical_name": "Abnormal peripheral nervous system synaptic transmission", "definition": "An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. []"} {"concept_id": "C4021047", "aliases": ["VVOR impairment", "Visually enhanced vestibulo-ocular reflex impairment"], "types": ["T033"], "canonical_name": "Impaired visually enhanced vestibulo-ocular reflex", "definition": "The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR). [HPO:probinson, PMID:16954982]"} {"concept_id": "C4021048", "aliases": ["Gordon sign"], "types": ["T033"], "canonical_name": "Gordon reflex", "definition": "Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe). [PMID:18637037, UKT:rschuele]"} {"concept_id": "C4021049", "aliases": ["Increased peripheral myelination"], "types": ["T033"], "canonical_name": "Peripheral hypermyelination", "definition": "Increased amount of peripheral myelination. [HPO:probinson]"} {"concept_id": "C4021050", "aliases": ["Dilatation of the superficial abdominal veins"], "types": ["T190"], "canonical_name": "Dilated superficial abdominal veins", "definition": "Increase in diameter of the veins located underneath the skin of the abdomen. [PMID:5897968]"} {"concept_id": "C4021051", "aliases": ["Serum antimitochrondrial antibodies"], "types": ["T033"], "canonical_name": "Antimitochondrial antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. [HPO:probinson]"} {"concept_id": "C4021053", "aliases": ["Reduced dystrophin staining in muscle"], "types": ["T033"], "canonical_name": "Reduced muscle dystrophin expression", "definition": "A decreased amount of dystrophin in muscle fiber tissue. [UToronto:htrang]"} {"concept_id": "C4021054", "aliases": ["Reduced collagen 6 in muscle"], "types": ["T033"], "canonical_name": "Reduced muscle collagen VI", "definition": "A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle. [UToronto:HTrang]"} {"concept_id": "C4021055", "aliases": ["Absent muscle fibre merosin", "Absent muscle fibre laminin alpha 2", "Absent muscle fiber laminin alpha 2", "Absent merosin staining in muscle biopsy"], "types": ["T033"], "canonical_name": "Absent muscle fiber merosin", "definition": "Lack of merosin protein in the muscle biopsy. []"} {"concept_id": "C4021056", "aliases": ["Struvite kidney stones"], "types": ["T033"], "canonical_name": "Struvite nephrolithiasis", "definition": "Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). []"} {"concept_id": "C4021057", "aliases": ["Spreading of the fingers", "Splayed fingers"], "types": ["T190"], "canonical_name": "Splayed fingers", "definition": "Divergence of digits along the A/P axis (in the plane of the palm). [eom:ebc67f029da3caac, PMID:19125433]"} {"concept_id": "C4021058", "aliases": ["Abnormal motor evoked potentials in the lower limb"], "types": ["T046"], "canonical_name": "Abnormal lower-limb motor evoked potentials", "definition": "An anomaly identified by motor evoked potentials (MEPs) in the leg. [UToronto:htrang]"} {"concept_id": "C4021059", "aliases": ["Abnormal motor evoked potentials in the upper limb"], "types": ["T046"], "canonical_name": "Abnormal upper-limb motor evoked potentials", "definition": "An anomaly identified by motor evoked potentials (MEPs) in the arm. [UToronto:htrang]"} {"concept_id": "C4021060", "aliases": ["Hyperplasia of labia majora", "Enlarged labia majora"], "types": ["T190"], "canonical_name": "Hyperplastic labia majora", "definition": "Overgrowth of the outer labia. [HPO:probinson]"} {"concept_id": "C4021061", "aliases": ["Fibrotic testes", "Fibrotic testicle"], "types": ["T046"], "canonical_name": "Testicular fibrosis", "definition": "Formation of excess connective tissue in the testicle. [HPO:probinson]"} {"concept_id": "C4021062", "aliases": ["Hyperpigmentation of the scrotum", "Hyperpigmented scrotum", "Increased pigmentation in scrotum"], "types": ["T033"], "canonical_name": "Scrotal hyperpigmentation", "definition": "Increased pigmentation (skin color) of the scrotum. [HPO:probinson]"} {"concept_id": "C4021063", "aliases": ["Multiple trichilemmomas"], "types": ["T033"], "canonical_name": "Multiple trichilemmomata", "definition": "Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle. [HPO:probinson]"} {"concept_id": "C4021064", "aliases": ["Phenotypic modifier"], "types": ["T170"], "canonical_name": "Clinical modifier", "definition": "This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. [HPO:probinson]"} {"concept_id": "C4021065", "aliases": ["Laterally built up nose", "Thick paranasal tissue", "Thick tissue around the nose", "Fullness of tissue around the nose", "Paranasal fullness"], "types": ["T190"], "canonical_name": "Fullness of paranasal tissue", "definition": "Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues. [HPO:probinson, PMID:19152422]"} {"concept_id": "C4021066", "aliases": ["Narrow jaw", "Narrow mandible", "Narrow lower jaw", "Narrow lower face", "Thin lower jaw"], "types": ["T033"], "canonical_name": "Narrow jaw", "definition": "Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective). [HPO:probinson, PMID:19125436]"} {"concept_id": "C4021067", "aliases": ["Extra cranial suture", "Supernumary cranial suture"], "types": ["T190"], "canonical_name": "Accessory cranial suture", "definition": "A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. [HPO:probinson, PMID:20496093]"} {"concept_id": "C4021068", "aliases": ["Kinked brain stem"], "types": ["T190"], "canonical_name": "Kinked brainstem", "definition": "A kinked appearance of the brainstem, i.e., an exaggerated flexure. [HPO:probinson, PMID:16301726]"} {"concept_id": "C4021069", "aliases": ["Abnormal intramembranous bone ossification"], "types": ["T190"], "canonical_name": "Abnormal intramembranous ossification", "definition": "An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed. [HPO:probinson]"} {"concept_id": "C4021070", "aliases": ["Mastoid agenesis", "Absent mastoids", "Failure of development of mastoid"], "types": ["T019"], "canonical_name": "Absent mastoid", "definition": "A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent. [HPO:probinson]"} {"concept_id": "C4021071", "aliases": ["Undeveloped small intestine", "Small bowel agenesis"], "types": ["T190"], "canonical_name": "Agenesis of the small intestine", "definition": "Failure to develop of the small intestine. [HPO:probinson]"} {"concept_id": "C4021072", "aliases": ["Absent canines", "Failure of development of canine", "Failure of development of eye tooth"], "types": ["T190"], "canonical_name": "Agenesis of canine", "definition": "Agenesis of canine tooth. [HPO:probinson]"} {"concept_id": "C4021073", "aliases": ["Morphological abnormality of the GI tract", "Abnormal shape of the digestive system", "Morphological anomaly of the digestive system"], "types": ["T190"], "canonical_name": "Morphological abnormality of the gastrointestinal tract", "definition": "Abnormal structure of the gastrointestinal tract. [HPO:probinson]"} {"concept_id": "C4021074", "aliases": ["Conductive hearing loss, severe"], "types": ["T047"], "canonical_name": "Severe conductive hearing impairment", "definition": "A severe form of conductive hearing impairment. [HPO:probinson]"} {"concept_id": "C4021075", "aliases": ["Conductive hearing loss, moderate"], "types": ["T033"], "canonical_name": "Moderate conductive hearing impairment", "definition": "The presence of a moderate form of conductive hearing impairment. [HPO:probinson]"} {"concept_id": "C4021076", "aliases": ["Iron accumulation in brain", "Brain iron deposition"], "types": ["T033"], "canonical_name": "Iron accumulation in brain", "definition": "An abnormal build up of iron (Fe) in brain tissue. [HPO:probinson]"} {"concept_id": "C4021077", "aliases": ["Abnormality of the suspensory ligament of lens", "Zonule of zinn abnormality", "Abnormality of zinn's membrane", "Ciliary zonule abnormality"], "types": ["T190"], "canonical_name": "Abnormal suspensory ligament of lens morphology", "definition": "An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place. [HPO:probinson]"} {"concept_id": "C4021078", "aliases": ["Low urine chloride levels", "Decreased urinary chloride"], "types": ["T033"], "canonical_name": "Hypochloriduria", "definition": "An decreased concentration of chloride in the urine. [HPO:probinson]"} {"concept_id": "C4021079", "aliases": ["Partially duplicated ureter"], "types": ["T019"], "canonical_name": "Ureter fissus", "definition": "A condition in which two ipsilateral ureters unite and drain into the bladder at a single ureteric orifice."} {"concept_id": "C4021080", "aliases": ["High blood beta-alanine levels", "Hyperbetaalaninemia", "Hyperbeta-alaninemia"], "types": ["T033"], "canonical_name": "Hyperbeta-alaninemia", "definition": "Increased concentration of beta-alanine in the blood. [HPO:probinson]"} {"concept_id": "C4021081", "aliases": ["Absent nail of big toe", "Absent big toe nail"], "types": ["T190"], "canonical_name": "Absent nail of hallux", "definition": "Absent nail of big toe. [HPO:probinson]"} {"concept_id": "C4021082", "aliases": ["Skeletal muscle fatty infiltration"], "types": ["T033"], "canonical_name": "Fatty replacement of skeletal muscle", "definition": "Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers [HPO:probinson, Neuromics:vstraub]"} {"concept_id": "C4021083", "aliases": ["Abnormality of neurotransmitter metabolism"], "types": ["T046"], "canonical_name": "Abnormal synaptic transmission", "definition": "An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. [HPO:probinson, MP:0003635]"} {"concept_id": "C4021084", "aliases": ["Aplastic optic nerve", "Optic nerve aplasia"], "types": ["T019"], "definition": "Congenital absence of the optic nerve. [HPO:probinson]", "canonical_name": "Absent optic nerve"} {"concept_id": "C4021085", "aliases": ["Abnormality of the brain", "Abnormal shape of brain"], "types": ["T190"], "canonical_name": "Abnormality of brain morphology", "definition": "A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. [HPO:probinson]"} {"concept_id": "C4021086", "aliases": ["Anomaly of the biliary tract"], "types": ["T190"], "canonical_name": "Abnormal biliary tract morphology", "definition": "A structural abnormality of the biliary tree. [HPO:probinson]"} {"concept_id": "C4021087", "aliases": ["Abnormal social behavior", "Abnormal social behaviour"], "types": ["T033"], "canonical_name": "Abnormal social behavior", "definition": "An abnormality of actions or reactions of a person taking place during interactions with others. [HPO:probinson]"} {"concept_id": "C4021088", "aliases": ["Prominent heel bone"], "types": ["T190"], "canonical_name": "Prominent calcaneus", "definition": "Protruding heel bone, or calcaneus. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4021089", "aliases": ["Choroid plexus hypertrophy"], "types": ["T190"], "canonical_name": "Villous hypertrophy of choroid plexus", "definition": "Overgrowth of the choroid plexus. [HPO:probinson, PMID:16523225]"} {"concept_id": "C4021090", "aliases": ["Increased urine citrate concentration"], "types": ["T033"], "canonical_name": "Hypercitraturia", "definition": "A greater than normal concentration of citrate(3-) in the urine. [HPO:probinson]"} {"concept_id": "C4021092", "aliases": ["Sudomotor sympathetic dysfunction"], "types": ["T190"], "canonical_name": "Abnormal sudomotor regulation", "definition": "An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration. [HPO:probinson]"} {"concept_id": "C4021093", "aliases": ["Decreased serum C9"], "types": ["T033"], "canonical_name": "Decreased serum complement C9", "definition": "A reduced level of the complement component C9 in circulation. [https://emedicine.medscape.com/article/135478-overview]"} {"concept_id": "C4021094", "aliases": ["Abnormal isoelectric focusing of serum transferrin, type II pattern", "Type 2 transferrin isoform profile", "Abnormal isoelectric focusing of serum transferrin, type 2 pattern", "Isoelectric focusing of serum transferrin consistent with CDG type II"], "types": ["T033"], "canonical_name": "Type II transferrin isoform profile", "definition": "Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. [HPO:probinson, PMID:15105360, PMID:22516080]"} {"concept_id": "C4021095", "aliases": ["Abnormality of the hypothalamus", "Abnormality of hypothalamus morphology", "Abnormal shape of hypothalamus"], "types": ["T190"], "canonical_name": "Abnormal hypothalamus morphology", "definition": "Any structural anomaly of the hypothalamus. [HPO:probinson]"} {"concept_id": "C4021096", "aliases": ["Abnormal genital system morphology"], "types": ["T190"], "canonical_name": "Abnormal reproductive system morphology", "definition": "A structural or developmental anomaly of any of the tissues involved in the genital system. [HPO:probinson, MP:0002160]"} {"concept_id": "C4021098", "aliases": ["Abnormal NK cells", "Abnormality of natural killer cells"], "types": ["T190"], "canonical_name": "Abnormal natural killer cell morphology", "definition": "An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells. [HPO:probinson, PMID:21212348]"} {"concept_id": "C4021099", "aliases": ["Postural tachycardia"], "types": ["T033"], "canonical_name": "Orthostatic tachycardia", "definition": "An increase in heart rate with standing of 30 beats per minute or more. [HPO:probinson, PMID:9244228]"} {"concept_id": "C4021100", "aliases": ["Wide fibula", "Thick fibula", "Wide calf bone", "Thick fibulae"], "types": ["T033"], "canonical_name": "Increased fibular diameter", "definition": "Increased width of the cross sectional diameter of the fibula. [HPO:probinson, MP:0008159]"} {"concept_id": "C4021101", "aliases": ["Creatinine levels abnormal", "Abnormal blood creatinine level", "Abnormal circulating creatinine level"], "types": ["T033"], "canonical_name": "Abnormal circulating creatinine concentration", "definition": "An abnormal concentration of creatinine in the blood. [HPO:probinson]"} {"concept_id": "C4021102", "aliases": ["Catecholamine levels abnormal"], "types": ["T033"], "canonical_name": "Abnormality of circulating catecholamine level", "definition": "An abnormal catecholamine concentration in the blood. [HPO:probinson]"} {"concept_id": "C4021103", "aliases": ["Abnormal exocrine pancreatic function"], "types": ["T046"], "canonical_name": "Abnormality of exocrine pancreas physiology", "definition": "A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. [HPO:probinson]"} {"concept_id": "C4021106", "aliases": ["Elevated factor V activity", "Plasma factor V elevated"], "types": ["T033"], "canonical_name": "Elevated coagulation factor V activity", "definition": "Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. [HPO:probinson]"} {"concept_id": "C4021107", "aliases": ["Testicular azoospermia"], "types": ["T047"], "canonical_name": "Non-obstructive azoospermia", "definition": "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. [HPO:probinson, PMID:20514278]"} {"concept_id": "C4021108", "aliases": ["Anterior wedging of the 12th thoracic vertebra", "Wedge-shaped 12th thoracic vertebra"], "types": ["T190"], "canonical_name": "Anterior wedging of T12", "definition": "An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front). [HPO:probinson]"} {"concept_id": "C4021109", "aliases": ["Long cerebellar peduncle"], "types": ["T033"], "canonical_name": "Long cerebellar peduncles"} {"concept_id": "C4021110", "aliases": ["Proximally placed halluces", "Proximal placement of big toe"], "types": ["T190"], "canonical_name": "Proximal placement of hallux", "definition": "Proximal mislocalization of the big toe from its normal position. [HPO:probinson]"} {"concept_id": "C4021111", "aliases": ["Short pinkie toe", "Short little toe", "Short fifth toe", "Short pinky toe"], "types": ["T190"], "canonical_name": "Short 5th toe", "definition": "Underdevelopment (hypoplasia) of the fifth toe. [HPO:probinson]"} {"concept_id": "C4021112", "aliases": ["Anaemia due to reduced life span of red cells"], "types": ["T047"], "canonical_name": "Anemia due to reduced life span of red cells", "definition": "A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. [DDD:akelly]"} {"concept_id": "C4021113", "aliases": ["Abnormality of T cell number", "Abnormal number of T cells"], "types": ["T033"], "canonical_name": "Abnormal T cell count", "definition": "A deviation from the normal count of T cells. [HPO:probinson]"} {"concept_id": "C4021114", "aliases": ["Asymmetry of nasal tip", "Deviated nasal tip", "Asymmetry of tip of nose", "Nasal tip, deviated", "Deviated tip of nose", "Crooked tip of nose", "Crooked nasal tip"], "types": ["T033"], "canonical_name": "Deviated nasal tip", "definition": "Nasal tip positioned to one side of the midline. [PMID:19152422]"} {"concept_id": "C4021115", "aliases": ["Philtrum, Narrow", "Decreased breadth of philtrum", "Decreased transverse dimension of philtrum", "Thin philtrum", "Decreased width of philtrum", "Decreased horizontal dimension of philtrum"], "types": ["T033"], "canonical_name": "Narrow philtrum", "definition": "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum. [PMID:19152422]"} {"concept_id": "C4021116", "aliases": ["Philtrum, Midline Sinus", "Central sinus of philtrum"], "types": ["T190"], "canonical_name": "Midline sinus of philtrum", "definition": "Pit in the midline of the philtral groove. [PMID:19152422]"} {"concept_id": "C4021117", "aliases": ["Philtral Ridges, Malaligned", "Malaligned philtral columns", "Asymmetric philtral columns", "Asymmetric philtral ridges"], "types": ["T033"], "canonical_name": "Malaligned philtral ridges", "definition": "Absence of the usual parallel position of philtral ridges. [PMID:19152422]"} {"concept_id": "C4021118", "aliases": ["Philtrum with midline ridge", "Philtrum, midline raphe", "Philtrum with central raphe"], "types": ["T190"], "canonical_name": "Philtrum with midline raphe", "definition": "Narrow ridge in the midline of the philtral groove. [PMID:19152422]"} {"concept_id": "C4021119", "aliases": ["Philtrum, Tented"], "types": ["T190"], "canonical_name": "Tented philtrum", "definition": "Prominence of a triangular soft tissue area of the philtrum with the apex to the columella. [PMID:19152422]"} {"concept_id": "C4021120", "aliases": ["Impaired touch localisation", "Impaired topognosis"], "types": ["T033"], "canonical_name": "Impaired touch localization", "definition": "A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip. [HPO:probinson]"} {"concept_id": "C4021121", "aliases": ["Pituitary thyrotropinoma"], "types": ["T191"], "canonical_name": "Pituitary thyrotropic cell adenoma", "definition": "A type of pituitary adenoma that produces thyroid stimulating hormone (TSH). [DDD:spark]"} {"concept_id": "C4021122", "aliases": ["Pituitary gonadotropinoma"], "types": ["T191"], "canonical_name": "Pituitary gonadotropic cell adenoma", "definition": "A type of pituitary adenoma that produces gonadotropins. [DDD:spark]"} {"concept_id": "C4021123", "aliases": ["Posterior pituitary dysplasia", "Neurohypophysis dysplasia"], "types": ["T190"], "canonical_name": "Posterior pituitary dysgenesis", "definition": "Abnormal development of the neurohypophysis during embryonic growth and development. [DDD:spark]"} {"concept_id": "C4021124", "aliases": ["ACTH excess"], "types": ["T046"], "canonical_name": "Adrenocorticotropic hormone excess", "definition": "Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. [DDD:spark]"} {"concept_id": "C4021125", "aliases": ["Secretory adrenal adenoma"], "types": ["T191"], "canonical_name": "Secretory adrenocortical adenoma", "definition": "An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones. [DDD:spark]"} {"concept_id": "C4021126", "aliases": ["Non-secretory adrenal adenoma"], "types": ["T191"], "canonical_name": "Non-secretory adrenocortical adenoma", "definition": "An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones. [DDD:spark]"} {"concept_id": "C4021127", "aliases": ["Tertiary adrenal insufficiency", "CRH deficient adrenal insufficiency"], "types": ["T047"], "canonical_name": "Corticotropin-releasing hormone deficient adrenal insufficiency", "definition": "Diminished production of adrenocortical hormones due to presumed insufficient secretion of corticotropin-releasing hormone from the hypothalamus."} {"concept_id": "C4021128", "aliases": ["Total anomalous pulmonary venous connection, mixed", "Type 4 total anomalous pulmonary venous connection", "Mixed total anomalous pulmonary venous connexion"], "types": ["T190"], "canonical_name": "Mixed total anomalous pulmonary venous connection", "definition": "Type 4 total anomalous pulmonary venous connection. [DDD:dbrown]"} {"concept_id": "C4021129", "aliases": ["Infracardiac total anomalous pulmonary venous connexion", "Type 3 total anomalous pulmonary venous connection"], "types": ["T033"], "canonical_name": "Infracardiac total anomalous pulmonary venous connection", "definition": "Type 3 total anomalous pulmonary venous connection. [DDD:dbrown]"} {"concept_id": "C4021130", "aliases": ["Cardiac total anomalous pulmonary venous connexion", "Total anomalous pulmonary venous connection, intracardiac", "Type 2 total anomalous pulmonary venous connection"], "types": ["T190"], "canonical_name": "Cardiac total anomalous pulmonary venous connection", "definition": "Type 2 total anomalous pulmonary venous connection. [DDD:dbrown]"} {"concept_id": "C4021131", "aliases": ["Type 1 total anomalous pulmonary venous connection", "Supracardiac total anomalous pulmonary venous connexion", "Total anomalous pulmonary venous connection, supracardiac"], "types": ["T190"], "canonical_name": "Supracardiac total anomalous pulmonary venous connection", "definition": "Type 1 total anomalous pulmonary venous connection. [DDD:dbrown]"} {"concept_id": "C4021132", "aliases": ["Atrioventricular re-entry tachycardia", "Supraventricular tachycardia with an accessory connexion mediated pathway"], "types": ["T047"], "canonical_name": "Supraventricular tachycardia with an accessory connection mediated pathway", "definition": "Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism. [PMID:22459483]"} {"concept_id": "C4021133", "aliases": ["Left ventricular noncompaction cardiomyopathy"], "types": ["T047"], "definition": "An uncommon congenital abnormality where the left ventricular myocardium fails to compact during embryonic development, leading to cardiomyopathy with a variable degree of ventricular dysfunction. There is genetic heterogeneity and phenotypic variability. Characteristically, there are typically deep trabeculations in the noncompacted area, with varying proportions of the LV myocardium compacted. LV noncompaction is associated with rhythm abnormalities including Wolff-Parkinson-White syndrome, conduction defects, and ventricular tachyarrhythmias.", "canonical_name": "Left ventricular non-compaction cardiomyopathy"} {"concept_id": "C4021134", "aliases": ["Hemitruncus"], "types": ["T019"], "canonical_name": "Anomalous origin of one pulmonary artery from ascending aorta", "definition": "Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle. [DDD:dbrown, PMID:2590592]"} {"concept_id": "C4021135", "aliases": ["Persistent truncus arteriosus type IV", "Type 4 truncus arteriosus"], "types": ["T019"], "canonical_name": "Type IV truncus arteriosus", "definition": "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present. [DDD:dbrown, HPO:probinson]"} {"concept_id": "C4021136", "aliases": ["Persistent truncus arteriosus type III", "Type 3 truncus arteriosus"], "types": ["T019"], "canonical_name": "Type III truncus arteriosus", "definition": "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta. [DDD:dbrown, HPO:probinson]"} {"concept_id": "C4021137", "aliases": ["Type 2 truncus arteriosus", "Persistent truncus arteriosus type II"], "types": ["T019"], "canonical_name": "Type II truncus arteriosus", "definition": "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus. [DDD:dbrown, HPO:probinson]"} {"concept_id": "C4021140", "aliases": ["Right aortic arch with aberrant left subclavian artery", "Right aortic arch with anomalous left subclavian artery"], "types": ["T190"], "canonical_name": "Right aortic arch with retroesophageal left subclavian artery"} {"concept_id": "C4021141", "aliases": ["Common brachiocephalic trunk"], "types": ["T190"], "canonical_name": "Common origin of the right brachiocephalic artery and left common carotid artery", "definition": "The left common carotid artery has a common origin with the innominate artery. [DDD:dbrown, HPO:probinson, PMID:17138027]"} {"concept_id": "C4021142", "aliases": ["Membranous supravalvular mitral stenosis", "Supravalvular mitral ring"], "types": ["T019"], "canonical_name": "Supramitral ring", "definition": "A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve. [DDD:dbrown]"} {"concept_id": "C4021143", "aliases": ["Hammock mitral valve"], "types": ["T190"], "canonical_name": "Mitral valve arcade", "definition": "Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle. [DDD:dbrown, PMID:20404264]"} {"concept_id": "C4021144", "aliases": ["Multiple bilateral CHRPE"], "types": ["T019"], "canonical_name": "Multiple bilateral congenital hypertrophy of retinal pigment epithelium", "definition": "Sharply demarcated hyperpigmentation which is congenital. [DDD:gblack]"} {"concept_id": "C4021145", "aliases": ["Single isolated congenital hypertrophy of retinal pigment epithelium", "Single isolated CHRPE"], "types": ["T019"], "canonical_name": "Solitary congenital hypertrophy of retinal pigment epithelium", "definition": "Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance. [DDD:gblack]"} {"concept_id": "C4021146", "aliases": ["Hyperpigmented fundus", "Hyperpigmented fundi"], "types": ["T033"], "canonical_name": "Hyperpigmentation of the fundus", "definition": "Increased pigmentation of the fundus [DDD:ncarter, ORCID:0000-0003-0986-4123]"} {"concept_id": "C4021147", "aliases": ["Generalised opacification of the cornea"], "types": ["T190"], "canonical_name": "Generalized opacification of the cornea", "definition": "Generalized reduced transparency of the stroma of the cornea. [DDD:gblack]"} {"concept_id": "C4021148", "aliases": ["Abnormality of the myencephalon"], "types": ["T190"], "canonical_name": "Abnormality of the medulla oblongata", "definition": "An abnormality of the medulla oblongata, the lower half of the brainstem. [HPO:probinson]"} {"concept_id": "C4021149", "aliases": ["Low maternal serum hCG"], "types": ["T033"], "canonical_name": "Low maternal serum chorionic gonadotropin", "definition": "An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. [DDD:hfirth, PMID:2447576]"} {"concept_id": "C4021150", "aliases": ["High maternal serum hCG"], "types": ["T033"], "canonical_name": "High maternal serum chorionic gonadotropin", "definition": "An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. [DDD:hfirth, PMID:2447576]"} {"concept_id": "C4021151", "aliases": ["Lethal short-trunk dwarfism"], "types": ["T019"], "canonical_name": "Lethal short-trunk short stature", "definition": "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth. [HPO:probinson]"} {"concept_id": "C4021152", "aliases": ["Abnormal formation of myelin sheaths"], "types": ["T190"], "canonical_name": "Abnormal CNS myelination", "definition": "An abnormality of myelination of nerves in the central nervous system. [DDD:fmuntoni]"} {"concept_id": "C4021153", "aliases": ["Absent the eighth cranial nerve", "Absent vestribular nerve", "Aplasia of the eighth cranial nerve", "Absent cranial nerve viii"], "types": ["T190"], "canonical_name": "Aplasia of the vestibular nerve.", "definition": "Absence of the vestibular nerve [DDD:mbitner-glidicz]"} {"concept_id": "C4021154", "aliases": ["Dilated cochlear aqueduct"], "types": ["T033"], "canonical_name": "Enlarged cochlear aqueduct", "definition": "Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular. [DDD:dfitzpatrick]"} {"concept_id": "C4021155", "aliases": ["Abnormality of the internal acoustic meatus"], "types": ["T190"], "canonical_name": "Abnormality of the internal auditory canal", "definition": "An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse. [DDD:mbitner-glidicz]"} {"concept_id": "C4021156", "aliases": ["Dilated semicircular canal"], "types": ["T033"], "canonical_name": "Enlarged semicircular canal", "definition": "Increased size of the semicircular canal. [DDD:dfitzpatrick]"} {"concept_id": "C4021157", "aliases": ["Generalised abnormality of skin", "Generalized abnormality of skin"], "types": ["T190"], "canonical_name": "Generalized abnormality of skin", "definition": "An abnormality of the skin that is not localized to any one particular region. [DDD:cmoss]"} {"concept_id": "C4021158", "aliases": ["Partial cleft of the upper lip", "Incomplete cleft of the upper lip", "Notched cleft of the upper lip", "Forme fruste unilateral cleft lip", "Incomplete cheiloschisis"], "types": ["T190"], "canonical_name": "Incomplete cleft of the upper lip", "definition": "A subtle unilateral cleft of the upper lip, which may appear as a small indentation. [DDD:jclayton-smith]"} {"concept_id": "C4021159", "aliases": ["Distortion of facial shape", "Facial shape compression", "Facial shape deformation"], "types": ["T190"], "canonical_name": "Facial shape deformation"} {"concept_id": "C4021160", "aliases": ["Occipital plagiocephaly", "Deformational posterior plagiocephaly"], "types": ["T190"], "canonical_name": "Posterior plagiocephaly", "definition": "Asymmetry of the posterior part of the skull. [DDD:awilkie, PMID:10876272]"} {"concept_id": "C4021161", "aliases": ["Multisutural craniosynostosis"], "types": ["T033"], "canonical_name": "Multiple suture craniosynostosis", "definition": "Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified. [DDD:awilkie]"} {"concept_id": "C4021162", "aliases": ["Unilateral lambdoid suture synostosis", "Unilateral lambdoid craniosynostosis"], "types": ["T190"], "canonical_name": "Unilambdoid synostosis", "definition": "Premature synostosis of only one lambdoid suture. [DDD:awilkie]"} {"concept_id": "C4021163", "aliases": ["Bilateral lambdoid suture synostosis", "Bilateral lambdoid craniosynostosis"], "types": ["T033"], "canonical_name": "Bilambdoid synostosis", "definition": "Premature synostosis of both lambdoid sutures. [DDD:awilkie]"} {"concept_id": "C4021164", "aliases": ["Bilateral coronal suture synostosis", "Bilateral coronal craniosynostosis", "Bilateral coronal suture craniosynostosis"], "types": ["T019"], "canonical_name": "Bicoronal synostosis", "definition": "Synostosis affecting the right and the left coronal suture. [DDD:awilkie]"} {"concept_id": "C4021165", "aliases": ["Abnormality of the tubular bones", "Abnormal shape of long bone"], "types": ["T190"], "canonical_name": "Abnormality of long bone morphology", "definition": "An abnormality of size or shape of the long bones. [HPO:probinson]"} {"concept_id": "C4021166", "aliases": ["Transitional palmar crease", "Bridged palm line"], "types": ["T190"], "canonical_name": "Bridged palmar crease", "definition": "A crease that connects the proximal and distal transverse palmar creases. [PMID:19125433]"} {"concept_id": "C4021167", "aliases": ["Tapered toe", "Tapering toes"], "types": ["T190"], "canonical_name": "Tapered toe", "definition": "The gradual reduction in girth of the toe from proximal to distal. [PMID:19125433]"} {"concept_id": "C4021168", "aliases": ["Narrow toe", "Slender toe"], "types": ["T033"], "canonical_name": "Slender toe", "definition": "Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. [PMID:19125433]"} {"concept_id": "C4021169", "aliases": ["Hypophalangy of toes", "Partial absence of toe"], "types": ["T033"], "canonical_name": "Partial absence of toe", "definition": "The absence of a phalangeal segment of a toe or hallux. [PMID:19125433]"} {"concept_id": "C4021170", "aliases": ["Abnormal shape of hindbrain", "Abnormality of the hindbrain"], "types": ["T190"], "canonical_name": "Abnormality of hindbrain morphology", "definition": "An abnormality of the hindbrain, also known as the rhombencephalon. [HPO:probinson]"} {"concept_id": "C4021171", "aliases": ["Tragus, prominent", "Hyperplastic tragus", "Hypertrophic tragus", "Enlarged tragus", "Large tragus"], "types": ["T190"], "canonical_name": "Prominent tragus", "definition": "Increase posterolateral protrusion of the tragus. [PMID:19152421]"} {"concept_id": "C4021172", "aliases": ["Accesory tragus", "Tragus, duplicated"], "types": ["T190"], "canonical_name": "Duplicated tragus", "definition": "A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus. [PMID:19152421]"} {"concept_id": "C4021173", "aliases": ["Notched tragus", "Tragus, bifid"], "types": ["T190"], "canonical_name": "Bifid tragus", "definition": "Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak. [PMID:19152421]"} {"concept_id": "C4021174", "aliases": ["Third-degree microtia"], "types": ["T190"], "canonical_name": "Microtia, third degree", "definition": "Presence of some auricular structures, but none of these structures conform to recognized ear components. [PMID:19152421]"} {"concept_id": "C4021175", "aliases": ["First-degree microtia"], "types": ["T190"], "canonical_name": "Microtia, first degree", "definition": "Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. [PMID:19152421]"} {"concept_id": "C4021176", "aliases": ["Helix, discontinuous ascending root"], "types": ["T190"], "canonical_name": "Discontinuous ascending root of helix", "definition": "Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid. [PMID:19152421]"} {"concept_id": "C4021177", "aliases": ["Forward facing earlobe", "Lobe, forward facing"], "types": ["T033"], "canonical_name": "Forward facing earlobe", "definition": "Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear. [HPO:probinson, PMID:19152421]"} {"concept_id": "C4021178", "aliases": ["Helix, crimped", "Indented helix"], "types": ["T190"], "canonical_name": "Crimped helix", "definition": "Linear, circumferential indentation in the convexity of the outer surface of the helix. [PMID:19152421]"} {"concept_id": "C4021179", "aliases": ["Helix, Darwin tubercle"], "types": ["T190"], "canonical_name": "Darwin tubercle of helix", "definition": "Small expansion of the helical fold at the junction of the superior and descending portions of the helix. [PMID:19152421]"} {"concept_id": "C4021180", "aliases": ["Helix, Darwin notch"], "types": ["T190"], "canonical_name": "Darwin notch of helix", "definition": "Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix. [PMID:19152421]"} {"concept_id": "C4021181", "aliases": ["Helix, crus, expanded terminal portion"], "types": ["T033"], "canonical_name": "Expanded terminal portion of crus of helix", "definition": "Widening, rather than tapering, of the crus at its posterior border near the antihelix. [PMID:19152421]"} {"concept_id": "C4021182", "aliases": ["Helix, crus, tragal bridge"], "types": ["T190"], "canonical_name": "Tragal bridge of crus of helix", "definition": "The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix. [PMID:19152421]"} {"concept_id": "C4021183", "aliases": ["Helix, crus, serpiginous"], "types": ["T190"], "canonical_name": "Serpiginous crus of helix", "definition": "Curving course of the crus of the helix, approaching or joining the antitragus. [PMID:19152421]"} {"concept_id": "C4021184", "aliases": ["Helix, crus, connected to antihelix"], "types": ["T190"], "canonical_name": "Crus of helix connected to antihelix", "definition": "Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix. [PMID:19152421]"} {"concept_id": "C4021185", "aliases": ["Helix, crus, absent"], "types": ["T190"], "canonical_name": "Absent crus of helix", "definition": "Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha. [PMID:19152421]"} {"concept_id": "C4021186", "aliases": ["Hypotrophic antitragus", "Small antitragus", "Hypoplastic antitragus"], "types": ["T190"], "canonical_name": "Underdeveloped antitragus", "definition": "Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. [HPO:probinson, PMID:19152421]"} {"concept_id": "C4021187", "aliases": ["Double antitragus"], "types": ["T033"], "canonical_name": "Bifid antitragus", "definition": "Double rather than single peak of the antitragus. [PMID:19152421]"} {"concept_id": "C4021188", "aliases": ["Hypertrophic superior crus of antihelix", "Hyperplastic superior crus of antihelix"], "types": ["T033"], "canonical_name": "Prominent superior crus of antihelix", "definition": "Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem. [PMID:19152421]"} {"concept_id": "C4021189", "aliases": ["Hypoplastic superior crus of antihelix", "Hypotrophic superior crus of antihelix"], "types": ["T190"], "canonical_name": "Underdeveloped superior crus of antihelix", "definition": "Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem. [PMID:19152421]"} {"concept_id": "C4021190", "aliases": ["Abnormality of posterior crus of antihelix"], "types": ["T190"], "canonical_name": "Abnormality of superior crus of antihelix", "definition": "An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. [HPO:probinson, PMID:19152421]"} {"concept_id": "C4021191", "aliases": ["Abnormality of anterior crus of antihelix"], "types": ["T190"], "canonical_name": "Abnormality of inferior crus of antihelix", "definition": "An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. [HPO:probinson, PMID:19152421]"} {"concept_id": "C4021192", "aliases": ["Antihelix, stem, underdeveloped"], "types": ["T190"], "canonical_name": "Underdeveloped stem of antihelix", "definition": "Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix. [PMID:19152421]"} {"concept_id": "C4021193", "aliases": ["Antihelix, stem, serpiginous"], "types": ["T190"], "canonical_name": "Serpiginous stem of antihelix", "definition": "Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha. [PMID:19152421]"} {"concept_id": "C4021194", "aliases": ["Antihelix, inferior crus, underdeveloped", "Hypotrophic inferior crus of antihelix", "Hypoplastic inferior crus of antihelix"], "types": ["T190"], "canonical_name": "Underdeveloped inferior crus of antihelix", "definition": "Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem. [PMID:19152421]"} {"concept_id": "C4021195", "aliases": ["Antihelix, inferior crus, prominent", "Hyperplastic inferior crus of antihelix", "Hypertrophic inferior crus of antihelix"], "types": ["T190"], "canonical_name": "Prominent inferior crus of antihelix", "definition": "Increased protrusion of the inferior crus relative to the prominence of the antihelix stem. [HPO:19152421]"} {"concept_id": "C4021196", "aliases": ["Antihelix, inferior crus, broad"], "types": ["T190"], "canonical_name": "Broad inferior crus of antihelix", "definition": "Increased width of the inferred cross-section of the inferior crus. [PMID:19152421]"} {"concept_id": "C4021197", "aliases": ["Conchal shelf"], "types": ["T190"], "canonical_name": "Antihelical shelf", "definition": "Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha. [PMID:19152421]"} {"concept_id": "C4021198", "aliases": ["Flat line EEG", "EEG with generalised slow activity grade 4"], "types": ["T033"], "canonical_name": "EEG with generalized slow activity grade 4", "definition": "EEG without electrical activity. [HPO:jalbers]"} {"concept_id": "C4021199", "aliases": ["Focal EEG Abnormality"], "types": ["T033"], "canonical_name": "EEG with focal epileptiform discharges", "definition": "EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:jalbers]"} {"concept_id": "C4021201", "aliases": ["Gastric duplication cyst"], "types": ["T190"], "canonical_name": "Gastric duplication", "definition": "Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach. [HPO:probinson]"} {"concept_id": "C4021202", "aliases": ["Abnormality of the dorsum of nose", "Malformation of the nasal dorsum", "Deformity of the dorsum of the nose", "Malformation of the dorsum of nose", "Deformity of the nasal ridge", "Deformity of the nasal dorsum", "Malformation of the nasal ridge", "Anomaly of the nasal ridge", "Abnormality of the nasal ridge"], "types": ["T190"], "canonical_name": "Abnormality of the nasal dorsum", "definition": "An abnormality of the nasal dorsum, also known as the nasal ridge. [HPO:probinson, PMID:19152422]"} {"concept_id": "C4021203", "aliases": ["Failure of development of molar", "Absent molars"], "types": ["T190"], "canonical_name": "Agenesis of molar", "definition": "Agenesis of molar tooth. [HPO:ibailleulforestier]"} {"concept_id": "C4021204", "aliases": ["Speed of onset"], "types": ["T079"], "canonical_name": "Temporal pattern", "definition": "The speed at which disease manifestations appear and develop. [HPO:probinson]"} {"concept_id": "C4021205", "aliases": ["Abnormal systemic artery morphology", "Systemic artery abnormality", "Abnormality of the systemic arterial tree"], "types": ["T190"], "canonical_name": "Abnormal systemic arterial morphology", "definition": "An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. [HPO:probinson]"} {"concept_id": "C4021206", "aliases": ["Increased cellular radiosensitivity", "Radiation-induced chromosome instability", "Chromosomal breakage induced by ionising radiation"], "types": ["T046"], "canonical_name": "Chromosomal breakage induced by ionizing radiation", "definition": "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation. [HPO:sdoelken, PMID:16814619]"} {"concept_id": "C4021207", "aliases": ["Abnormality of the cerebral medulla"], "types": ["T190"], "canonical_name": "Abnormality of the cerebral subcortex", "definition": "An abnormality of the cerebral subcortex. [HPO:probinson]"} {"concept_id": "C4021208", "aliases": ["Abnormal number of B cells", "Abnormality of B cell count", "Abnormal numbers of B cells", "Abnormality of B cell numbers"], "types": ["T033"], "canonical_name": "Abnormal B cell count", "definition": "A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. [HPO:probinson, MP:0002458]"} {"concept_id": "C4021209", "aliases": ["Abnormality of fatty acid anion"], "types": ["T033"], "canonical_name": "Abnormal circulating fatty-acid anion concentration", "definition": "Any deviation from the normal concentration of a fatty acid anion in the blood circulation. [HPO:probinson]"} {"concept_id": "C4021210", "aliases": ["Abnormality of the foetal cardiovascular system", "Abnormality of the foetal circulation system", "Abnormality of the fetal circulation system", "Abnormality of the fetal cardiovascular system"], "types": ["T019"], "canonical_name": "Abnormal fetal cardiovascular morphology", "definition": "A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. [DDD:dbrown, HPO:probinson]"} {"concept_id": "C4021211", "aliases": ["EEG: periodic abnormalities"], "types": ["T046"], "canonical_name": "EEG with periodic abnormalities", "definition": "Periodically recurring abnormalities in the EEG. [HPO:probinson]"} {"concept_id": "C4021212", "aliases": ["Radermecker complexes", "EEG: periodic complexes"], "types": ["T033"], "canonical_name": "EEG with periodic complexes", "definition": "Periodically occurring generalized periodic complexes. [HPO:jalbers]"} {"concept_id": "C4021213", "aliases": ["EEG: localised low amplitude activity", "EEG with localised low amplitude activity"], "types": ["T033"], "canonical_name": "EEG with localized low amplitude activity", "definition": "An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:probinson]"} {"concept_id": "C4021214", "aliases": ["EEG: generalised low amplitude activity", "EEG with generalised low amplitude activity"], "types": ["T033"], "canonical_name": "EEG with generalized low amplitude activity", "definition": "An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:probinson]"} {"concept_id": "C4021215", "aliases": ["EEG: periodic lateralized epileptiform discharges"], "types": ["T033"], "canonical_name": "EEG with periodic lateralized epileptiform discharges", "definition": "Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds). [HPO:probinson]"} {"concept_id": "C4021216", "aliases": ["EEG: persistent abnormal rhythmic activity"], "types": ["T033"], "canonical_name": "EEG with persistent abnormal rhythmic activity"} {"concept_id": "C4021217", "aliases": ["EEG: generalised slow activity", "EEG: generalized slow activity", "EEG with generalised slow activity"], "types": ["T033"], "canonical_name": "EEG with generalized slow activity", "definition": "Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:probinson]"} {"concept_id": "C4021218", "aliases": ["EEG: localized slow activity", "EEG: focal slow activity", "EEG: localised slow activity"], "types": ["T033"], "canonical_name": "EEG with focal slow activity", "definition": "Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy). [HPO:probinson]"} {"concept_id": "C4021219", "aliases": ["Multifocal EEG abnormality"], "types": ["T033"], "canonical_name": "Multifocal epileptiform discharges", "definition": "An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). [HPO:probinson]"} {"concept_id": "C4021220", "aliases": ["Trophic changes"], "types": ["T033"], "canonical_name": "Trophic changes related to pain", "definition": "Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails. [HPO:probinson]"} {"concept_id": "C4021221", "aliases": ["Impaired touch sensation", "Abnormal thigmesthesia", "Loss of tactile sensation"], "types": ["T033"], "canonical_name": "Impaired tactile sensation", "definition": "A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. [HPO:probinson]"} {"concept_id": "C4021222", "aliases": ["Loss of temperature sensation", "Impaired temperature sensation", "Impaired thermal sensitivity", "Abnormality of temperature sensation"], "types": ["T033"], "canonical_name": "Impaired temperature sensation", "definition": "A reduced ability to discriminate between different temperatures. [HPO:probinson]"} {"concept_id": "C4021223", "aliases": ["Abnormality of the facial nerve"], "types": ["T190"], "canonical_name": "Abnormality of the seventh cranial nerve", "definition": "Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. [HPO:probinson]"} {"concept_id": "C4021224", "aliases": ["Abnormality of cranial nerve xii", "Abnormality of the hypoglossal nerve", "Abnormality of cranial nerve 12"], "types": ["T190"], "canonical_name": "Abnormality of the twelfth cranial nerve", "definition": "Abnormality of the twelfth cranial nerve. [HPO:probinson]"} {"concept_id": "C4021225", "aliases": ["Abnormality of cranial nerve XI", "Abnormality of the accessory nerve"], "types": ["T190"], "canonical_name": "Abnormality of the eleventh cranial nerve", "definition": "Abnormality of the eleventh cranial nerve. [HPO:probinson]"} {"concept_id": "C4021226", "aliases": ["Abnormality of the fifth cranial nerve", "Abnormality of the nervus trigeminus", "Abnormal trigeminal nerve morphology"], "types": ["T190"], "canonical_name": "Abnormal fifth cranial nerve morphology", "definition": "Any structural abormality of the fifth cranial nerve. [HPO:probinson]"} {"concept_id": "C4021227", "aliases": ["Nasolabial crease, underdeveloped", "Nasolabial fold, hypoplastic", "Nasolabial crease, hypoplastic", "Flat nasolabial fold", "Shallow nasolabial fold"], "types": ["T190"], "canonical_name": "Underdeveloped nasolabial fold", "definition": "Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure). [PMID:19125428]"} {"concept_id": "C4021228", "aliases": ["Gonadal neoplasia"], "types": ["T191"], "canonical_name": "Gonadal neoplasm", "definition": "A tumor (abnormal growth of tissue) of a gonad. [HPO:probinson]"} {"concept_id": "C4021229", "aliases": ["Columella, low insertion"], "types": ["T033"], "canonical_name": "Low insertion of columella", "definition": "Insertion of the posterior columella below the nasal base. [PMID:19152422]"} {"concept_id": "C4021230", "aliases": ["Abnormal position of the lacrimal punctum"], "types": ["T190"], "canonical_name": "Ectopic lacrimal punctum", "definition": "Positioning of a lacrimal punctum other than at the medial margins of the eyelid. [PMID:19125427]"} {"concept_id": "C4021231", "aliases": ["Absent bones of the toes", "Aphalangia of the toes"], "types": ["T033"], "canonical_name": "Aplasia of the phalanges of the toes", "definition": "Absence of a digit or of one or more phalanges of a toe. [HPO:probinson]"} {"concept_id": "C4021232", "aliases": ["Absent long bone of foot", "Aplasia of the metatarsal bones"], "types": ["T033"], "canonical_name": "Absent metatarsal bone", "definition": "A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. [HPO:probinson]"} {"concept_id": "C4021233", "aliases": ["Prominent corneal nerve fibres", "Visible corneal nerve fibers", "Visible corneal nerve fibres"], "types": ["T190"], "canonical_name": "Prominent corneal nerve fibers", "definition": "Abnormal prominence of the corneal nerve fibers. [DDD:ncarter, HPO:probinson]"} {"concept_id": "C4021234", "aliases": ["Syndactyly of toes 2, 3 and 4", "Syndactyly toes 2-4", "Webbed 2nd-4th toes"], "types": ["T019"], "canonical_name": "2-4 toe syndactyly", "definition": "Syndactyly with fusion of toes two to four. [HPO:sdoelken]"} {"concept_id": "C4021235", "aliases": ["Syndactyly of all toes", "Webbed 1st-5th toes"], "types": ["T019"], "canonical_name": "1-5 toe syndactyly", "definition": "Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot). [HPO:sdoelken]"} {"concept_id": "C4021236", "aliases": ["Webbed index through ring fingers", "Syndactyly of second to fourth fingers"], "types": ["T190"], "canonical_name": "2-4 finger syndactyly", "definition": "Syndactyly with fusion of the fingers two to four. [HPO:sdoelken]"} {"concept_id": "C4021238", "aliases": ["Mirror image dupliction of toes"], "types": ["T019"], "canonical_name": "Mirror image foot polydactyly", "definition": "Mirror image duplication of digits affecting the feet. [HPO:sdoelken]"} {"concept_id": "C4021239", "aliases": ["Mirror image dupliction of fingers"], "types": ["T019"], "canonical_name": "Mirror image hand polydactyly", "definition": "Mirror image duplication of digits affecting the hands only. [HPO:sdoelken]"} {"concept_id": "C4021240", "aliases": ["Elevated alkaline phosphatase, liver/bone/kidney", "Elevated tissue non-specific ALP"], "types": ["T033"], "canonical_name": "Elevated tissue non-specific alkaline phosphatase", "definition": "An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. [HPO:probinson]"} {"concept_id": "C4021241", "aliases": ["Abnormality of the mineralisation and ossification of bones of the feet"], "types": ["T190"], "canonical_name": "Abnormal foot bone ossification", "definition": "An abnormality of the formation and mineralization of any bone of the skeleton of foot. [HPO:probinson]"} {"concept_id": "C4021242", "aliases": ["Hypoplasia of cheekbone", "Cheekbone underdevelopment", "Hypotrophy of the zygomatic bone", "Underdevelopment of zygomatic bone", "Hypotrophy of the cheekbone", "Decreased size of zygomatic bone", "Underdevelopment of cheekbone", "Decreased size of cheekbone"], "types": ["T190"], "canonical_name": "Hypoplasia of the zygomatic bone", "definition": "Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436]"} {"concept_id": "C4021243", "aliases": ["Abnormality of the thalamus", "Abnormal shape of thalamus"], "types": ["T190"], "canonical_name": "Abnormality of thalamus morphology", "definition": "An abnormality of the thalamus. [HPO:probinson]"} {"concept_id": "C4021244", "aliases": ["Abnormal ossification of hand bones", "Abnormality of the mineralisation and ossification of bones of the hand"], "types": ["T033"], "canonical_name": "Abnormal hand bone ossification", "definition": "An abnormality of the formation and mineralization of any bone of the skeleton of hand. [HPO:probinson]"} {"concept_id": "C4021245", "aliases": ["Patchy increased and decreased bone mineral density"], "types": ["T033"], "canonical_name": "Patchy variation in bone mineral density", "definition": "Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays. [HPO:probinson]"} {"concept_id": "C4021246", "aliases": ["Abnormal maturation of the end part of a bone", "Abnormality of the mineralisation or ossification of the epiphyses"], "types": ["T033"], "canonical_name": "Abnormal epiphyseal ossification", "definition": "An abnormality of the formation and mineralization of an epiphysis. [HPO:probinson]"} {"concept_id": "C4021247", "aliases": ["Abnormality of the cerebral falx"], "types": ["T190"], "canonical_name": "Abnormality of the falx cerebri", "definition": "An abnormality of the Falx cerebri. [HPO:probinson]"} {"concept_id": "C4021248", "aliases": ["Abnormality of the epiphyses of the metatarsals", "Abnormality of end part of long bone of foot"], "types": ["T190"], "canonical_name": "Abnormality of metatarsal epiphysis", "definition": "Any abnormality of a metatarsal bone epiphysis. [HPO:curators]"} {"concept_id": "C4021249", "aliases": ["Absent pituitary gland", "Aplasia of the pituitary gland"], "types": ["T033"], "canonical_name": "Anterior pituitary agenesis", "definition": "Absence of the anterior pituitary gland resulting from a developmental defect. [DDD:spark, HPO:probinson, HPO:skoehler]"} {"concept_id": "C4021250", "aliases": ["Cerebral cystic malformation"], "types": ["T033"], "canonical_name": "Intracranial cystic lesion", "definition": "A cystic lesion originating within the brain. [HPO:probinson]"} {"concept_id": "C4021251", "aliases": ["Dysplastic femoral head"], "types": ["T033"], "canonical_name": "Dysplasia of the femoral head", "definition": "The presence of developmental dysplasia of the femoral head. [HPO:probinson]"} {"concept_id": "C4021252", "aliases": ["Abnormality of the proximal femoral epiphysis", "Abnormality of the end part of the innermost thighbone"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the femoral head", "definition": "Any abnormality of the proximal epiphysis of the femur. [HPO:sdoelken]"} {"concept_id": "C4021253", "aliases": ["Wavy clavicles", "Wavy collarbone"], "types": ["T190"], "canonical_name": "Undulate clavicles", "definition": "An abnormally wavy surface or edge of the clavicles. [HPO:curators]"} {"concept_id": "C4021254", "aliases": ["Webbed fingers", "Cutaneous syndactyly of fingers", "Cutaneous finger syndactyly", "Cutaneous syndactyly of hands"], "types": ["T019"], "definition": "A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. [PMID:19125433]", "canonical_name": "Webbed skin of fingers"} {"concept_id": "C4021255", "aliases": ["Paralysis due to lesions of the principle motor tracts"], "types": ["T046"], "canonical_name": "Weakness due to upper motor neuron dysfunction", "definition": "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. [HPO:probinson]"} {"concept_id": "C4021256", "aliases": ["Increased foetal movement", "Foetal hyperkinesia", "Fetal hyperkinesia"], "types": ["T033"], "canonical_name": "Increased fetal movement", "definition": "An abnormal increase in quantity or strength of fetal movements. [HPO:curators]"} {"concept_id": "C4021257", "aliases": ["Absent ankle bone", "Absent tarsals"], "types": ["T190"], "canonical_name": "Aplasia of the tarsal bones", "definition": "Absence of the tarsal bones. [HPO:curators]"} {"concept_id": "C4021258", "aliases": ["Abnormal prints on feet", "Abnormal dermatoglyphics on feet"], "types": ["T190"], "canonical_name": "Abnormal plantar dermatoglyphics", "definition": "An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot. [HPO:probinson]"} {"concept_id": "C4021259", "aliases": ["Limitation of knee mobility", "Limited knee movement"], "types": ["T033"], "canonical_name": "Limitation of knee mobility", "definition": "An abnormal limitation of knee joint mobility. [HPO:curators]"} {"concept_id": "C4021260", "aliases": ["Elongated long bone of hand", "Increased length of metacarpals"], "types": ["T033"], "canonical_name": "Long metacarpals", "definition": "An abnormally increased length of the metacarpal bones. [HPO:probinson]"} {"concept_id": "C4021261", "aliases": ["Amniotic constriction rings of digits"], "types": ["T019"], "canonical_name": "Digital constriction ring", "definition": "A narrow segment of significantly reduced circumference of a digit. [PMID:19125433]"} {"concept_id": "C4021262", "aliases": ["Absent palm lines", "Absence of the palmar creases", "Aplasia of the palmar creases"], "types": ["T033"], "canonical_name": "Absent palmar crease", "definition": "The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). [HPO:probinson, PMID:19125433]"} {"concept_id": "C4021263", "aliases": ["Asymmetric pelvis", "Pelvic asymmetry"], "types": ["T033"], "canonical_name": "Pelvic bone asymmetry", "definition": "Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology. [HPO:probinson]"} {"concept_id": "C4021264", "aliases": ["Abnormal interventricular septum morphology", "Ventricular septum abnormality", "Abnormality of the ventricular septum"], "types": ["T190"], "canonical_name": "Abnormal ventricular septum morphology", "definition": "A structural abnormality of the interventricular septum. [HPO:probinson]"} {"concept_id": "C4021265", "aliases": ["Short proximal phalanx of the second toe", "Short innermost 2nd toe bone", "Hypoplastic/small proximal phalanx of the 2nd toe"], "types": ["T033"], "canonical_name": "Short proximal phalanx of the 2nd toe", "definition": "Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia. [HPO:sdoelken]"} {"concept_id": "C4021266", "aliases": ["Short middle 2nd toe bone", "Hypoplastic/small middle phalanx of the 2nd toe", "Short middle phalanx of the second toe"], "types": ["T190"], "canonical_name": "Short middle phalanx of the 2nd toe", "definition": "Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia. [HPO:probinson]"} {"concept_id": "C4021267", "aliases": ["Hypoplastic/small distal phalanx of the 2nd toe", "Short distal phalanx of the second toe", "Short outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Short distal phalanx of the 2nd toe", "definition": "Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia. [HPO:probinson]"} {"concept_id": "C4021268", "aliases": ["Aplasia of the distal phalanx of the 2nd toe", "Absent distal phalanx of the second toe", "Absent outermost bone of the 2nd toe"], "types": ["T033"], "canonical_name": "Absent distal phalanx of the 2nd toe", "definition": "Absence of distal phalanx of the second toe as a result of developmental aplasia. [HPO:probinson]"} {"concept_id": "C4021269", "aliases": ["Short phalanx of the second toe", "Short 2nd toe bone", "Hypoplastic/small phalanges of the 2nd toe"], "types": ["T190"], "canonical_name": "Short phalanx of the 2nd toe", "definition": "Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia. [HPO:probinson]"} {"concept_id": "C4021270", "aliases": ["Partial duplication of the proximal phalanx of the second toe", "Partial duplication of the innermost 2nd toe bone"], "types": ["T190"], "canonical_name": "Partial duplication of the proximal phalanx of the 2nd toe", "definition": "Partial duplication of proximal phalanx of second toe. [HPO:probinson]"} {"concept_id": "C4021271", "aliases": ["Complete duplication of the innermost 2nd toe bone", "Complete duplication of the proximal phalanx of the second toe"], "types": ["T190"], "canonical_name": "Complete duplication of the proximal phalanx of the 2nd toe", "definition": "Complete duplication of proximal phalanx of second toe. [HPO:sdoelken]"} {"concept_id": "C4021272", "aliases": ["Duplication of the outermost bone of the 2nd toe", "Partial/complete duplication of the distal phalanx of the 2nd toe"], "types": ["T190"], "canonical_name": "Duplication of the distal phalanx of the 2nd toe", "definition": "Partial or complete duplication of the distal phalanx of second toe. [HPO:sdoelken]"} {"concept_id": "C4021273", "aliases": ["Partial/complete duplication of the middle phalanx of the 2nd toe", "Duplication of middle bone of 2nd toe"], "types": ["T190"], "canonical_name": "Duplication of the middle phalanx of the 2nd toe", "definition": "Partial or complete duplication of middle phalanx of second toe. [HPO:sdoelken]"} {"concept_id": "C4021274", "aliases": ["Partial/complete duplication of the proximal phalanx of the 2nd toe", "Duplication of innermost 2nd toe bone", "Duplication of the proximal phalanx of the second toe"], "types": ["T190"], "canonical_name": "Duplication of the proximal phalanx of the 2nd toe", "definition": "Partial or complete duplication of proximal phalanx of second toe. [HPO:sdoelken]"} {"concept_id": "C4021275", "aliases": ["Uneven increase in bone density in pinky toe bone", "Uneven increase in bone density in little toe bone", "Patchy sclerosis of the phalanges of the 5th toe", "Uneven increase in bone density in pinkie toe bone"], "types": ["T033"], "canonical_name": "Patchy sclerosis of 5th toe phalanx", "definition": "Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4021276", "aliases": ["Curved little toe bones", "Curved pinkie toe bones", "Curved phalanges of the 5th toe", "Curved pinky toe bones"], "types": ["T190"], "canonical_name": "Curved 5th toe phalanx", "definition": "A deviation from the normal straight form of one or more phalanges of the fifth toe. [HPO:probinson]"} {"concept_id": "C4021277", "aliases": ["Bullet-shaped phalanges of the 5th toe", "Bullet-shaped bones of the pinkie toe", "Bullet-shaped bones of the pinky toe", "Bullet-shaped bones of the little toe"], "types": ["T190"], "canonical_name": "Bullet-shaped 5th toe phalanx", "definition": "An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4021278", "aliases": ["Partial/complete duplication of the phalanges of the 4th toe", "Duplication of phalanx of the fourth toe", "Duplication of 4th toe bone"], "types": ["T190"], "canonical_name": "Duplication of phalanx of the 4th toe", "definition": "Partial or complete duplication of phalanx of fourth toe. [HPO:probinson]"} {"concept_id": "C4021279", "aliases": ["Patchy sclerosis of the phalanges of the 4th toe", "Uneven increase in bone density in 4th toe bone"], "types": ["T190"], "canonical_name": "Patchy sclerosis of 4th toe phalanx", "definition": "Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4021280", "aliases": ["Curved bones of 4th toe", "Curved phalanges of the 4th toe"], "types": ["T190"], "canonical_name": "Curved 4th toe phalanx", "definition": "A deviation from the normal straight form of one or more phalanges of the fourth toe. [HPO:probinson]"} {"concept_id": "C4021281", "aliases": ["Bullet-shaped bones of the 4th toe", "Bullet-shaped phalanges of the 4th toe"], "types": ["T190"], "canonical_name": "Bullet-shaped 4th toe phalanx", "definition": "An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4021282", "aliases": ["Duplication of 3rd toe bone", "Duplication of phalanx of the third toe", "Partial/complete duplication of the phalanges of the 3rd toe"], "types": ["T190"], "canonical_name": "Duplication of phalanx of the 3rd toe", "definition": "Partial or complete duplication of phalanx of third toe. [HPO:sdoelken]"} {"concept_id": "C4021283", "aliases": ["Patchy sclerosis of the phalanges of the 3rd toe", "Uneven increase in bone density in 3rd toe bone"], "types": ["T190"], "canonical_name": "Patchy sclerosis of 3rd toe phalanx", "definition": "Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4021284", "aliases": ["Curved bones of 3rd toe", "Curved phalanges of the 3rd toe"], "types": ["T190"], "canonical_name": "Curved 3rd toe phalanx", "definition": "A deviation from the normal straight form of one or more phalanges of the third toe. [HPO:probinson]"} {"concept_id": "C4021285", "aliases": ["Bullet-shaped bones of 3rd toe", "Bullet-shaped phalanges of the 3rd toe"], "types": ["T190"], "canonical_name": "Bullet-shaped 3rd toe phalanx", "definition": "An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4021286", "aliases": ["Partial/complete duplication of the phalanges of the 2nd toe", "Duplication of the bones of the 2nd toe"], "types": ["T190"], "canonical_name": "Duplication of the phalanges of the 2nd toe", "definition": "Partial or complete duplication of a phalanx of second toe. [HPO:sdoelken]"} {"concept_id": "C4021287", "aliases": ["Uneven increase in bone density in 2nd toe bone", "Patchy sclerosis of the phalanges of the 2nd toe"], "types": ["T190"], "canonical_name": "Patchy sclerosis of 2nd toe phalanx", "definition": "Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4021288", "aliases": ["Curved bones of the 2nd toe", "Curved phalanges of the 2nd toe"], "types": ["T190"], "canonical_name": "Curved 2nd toe phalanx", "definition": "A deviation from the normal straight form of one or more phalanges of the second toe. [HPO:probinson]"} {"concept_id": "C4021289", "aliases": ["Bullet-shaped phalanges of the 2nd toe", "Bullet-shaped bones of the 2nd toe"], "types": ["T190"], "canonical_name": "Bullet-shaped 2nd toe phalanx", "definition": "An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4021290", "aliases": ["Joint contractures of the 5th toe"], "types": ["T190"], "canonical_name": "Flexion contracture of the 5th toe", "definition": "One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4021291", "aliases": ["Displacement of the pinky toe", "Displacement of the 5th toe", "Displacement of the pinkie toe", "Displacement of the little toe"], "types": ["T190"], "canonical_name": "Deviation of the 5th toe"} {"concept_id": "C4021292", "aliases": ["Joint contractures of the 4th toe"], "types": ["T033"], "canonical_name": "Flexion contracture of the 4th toe", "definition": "One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4021293", "aliases": ["Displacement of the 4th toe"], "types": ["T190"], "canonical_name": "Deviation of the 4th toe"} {"concept_id": "C4021294", "aliases": ["Joint contractures of the 3rd toe"], "types": ["T190"], "canonical_name": "Flexion contracture of 3rd toe", "definition": "One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4021295", "aliases": ["Displacement of the 3rd toe"], "types": ["T190"], "canonical_name": "Deviation of the 3rd toe"} {"concept_id": "C4021296", "aliases": ["Joint contractures of the 2nd toe"], "types": ["T190"], "canonical_name": "Flexion contracture of the 2nd toe", "definition": "One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4021297", "aliases": ["Displacement of the 2nd toe"], "types": ["T190"], "canonical_name": "Deviation of the 2nd toe"} {"concept_id": "C4021298", "aliases": ["Absent scapula", "Absent shoulder blade"], "types": ["T033"], "canonical_name": "Scapular aplasia", "definition": "Absence of the scapulae. [HPO:probinson]"} {"concept_id": "C4021299", "aliases": ["Abnormality of dentine", "Abnormal dentin", "Dentin anomaly", "Abnormality of dentin"], "types": ["T190"], "canonical_name": "Abnormal dentin morphology", "definition": "Any abnormality of dentin. [HPO:probinson]"} {"concept_id": "C4021300", "aliases": ["Large lateral palatal ridges", "Prominent palatine folds", "Large lateral palatal folds", "Prominent lateral palatal ridges", "Prominent lateral palatal folds"], "types": ["T033"], "canonical_name": "Prominent palatine ridges", "definition": "Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge. [PMID:19125428]"} {"concept_id": "C4021301", "aliases": ["Increased bone density of end part of the outermost hand bones", "Eburnated epiphyses of distal phalanges"], "types": ["T190"], "canonical_name": "Ivory epiphyses of the distal phalanges of the hand", "definition": "Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]"} {"concept_id": "C4021302", "aliases": ["Absent innermost bones", "Absent proximal phalanges"], "types": ["T033"], "canonical_name": "Aplasia of the proximal phalanges of the hand"} {"concept_id": "C4021303", "aliases": ["Triangular epiphyses of the fingers", "Triangular end part of finger bones", "Delta-shaped epiphyses of the fingers"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the phalanges of the hand", "definition": "A triangular appearance of the epiphyses of the phalanges of the fingers of the hand. [HPO:curators]"} {"concept_id": "C4021304", "aliases": ["Stippling of the epiphyses of the phalanges of the hand", "Speckled calcifications in end part of finger bones", "Stippling of the epiphyses of the fingers"], "types": ["T190"], "canonical_name": "Epiphyseal stippling of finger phalanges", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers. [HPO:probinson]"} {"concept_id": "C4021305", "aliases": ["Small end part of finger bones", "Small epiphyses of the fingers"], "types": ["T190"], "canonical_name": "Small epiphyses of the phalanges of the hand", "definition": "Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4021306", "aliases": ["Pseudoepiphysis of the fingers"], "types": ["T190"], "canonical_name": "Pseudoepiphyses of the phalanges of the hand", "definition": "A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4021307", "aliases": ["Irregular end part of finger bones", "Irregular epiphyses of the fingers"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the phalanges of the hand", "definition": "Irregular radiographic opacity of the epiphyses of the phalanges of the fingers. [HPO:curators]"} {"concept_id": "C4021308", "aliases": ["Fragmentation of end part of finger bones", "Fragmentation of the epiphyses of the fingers"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the phalanges of the hand", "definition": "Fragmented appearance of the epiphyses of the phalanges of the fingers. [HPO:curators]"} {"concept_id": "C4021309", "aliases": ["Bracket epiphyses of the fingers", "Bracket shaped end part of finger bones"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the phalanges of the hand", "definition": "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:probinson]"} {"concept_id": "C4021310", "aliases": ["Absent epiphyses of the fingers", "Absent end part of fingers"], "types": ["T190"], "canonical_name": "Absent epiphyses of the phalanges of the hand", "definition": "Absence of one or more epiphyses of the phalanges of the fingers. [HPO:skoehler]"} {"concept_id": "C4021311", "aliases": ["Joint contracture of the hallux", "Joint contracture of the big toe"], "types": ["T190"], "canonical_name": "Flexion contracture of the hallux", "definition": "One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4021312", "aliases": ["Duplication of innermost toe bones", "Partial/complete duplication of the proximal phalanges of the toes"], "types": ["T190"], "canonical_name": "Duplication of proximal phalanx of toe", "definition": "Partial/complete duplication of a proximal phalanx of toe. [HPO:sdoelken]"} {"concept_id": "C4021313", "aliases": ["Patchy sclerosis of the proximal phalanges of the toes", "Uneven increase in bone density in innermost toe bone"], "types": ["T190"], "canonical_name": "Patchy sclerosis of proximal toe phalanx", "definition": "Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4021314", "aliases": ["Osteolytic defects of the proximal phalanges of the toes"], "types": ["T190"], "canonical_name": "Osteolytic defect of the proximal toe phalanx", "definition": "Dissolution or degeneration of bone tissue of the proximal toe phalanx. [HPO:probinson]"} {"concept_id": "C4021315", "aliases": ["Curved innermost toe bones", "Curved proximal phalanges of the toes"], "types": ["T190"], "canonical_name": "Curved proximal toe phalanx", "definition": "A deviation from the normal straight shape of a proximal phalanx of one or more toes. [HPO:probinson]"} {"concept_id": "C4021316", "aliases": ["Bullet-shaped proximal phalanges of the toes", "Bullet-shaped innermost toe bone", "Bullet-shaped proximal phalanges of toe"], "types": ["T190"], "canonical_name": "Bullet-shaped proximal toe phalanx", "definition": "An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4021317", "aliases": ["Absent/underdeveloped innermost toe bones", "Absent/small innermost toe bones", "Aplasia/Hypoplasia of the proximal phalanges of the toes"], "types": ["T190"], "canonical_name": "Aplasia/hypoplasia of proximal toe phalanx", "definition": "Absence (agenesis) or underdevelopment of the proximal phalanx of the toe. [HPO:probinson]"} {"concept_id": "C4021318", "aliases": ["Partial/complete duplication of the middle phalanges of the toes", "Partial/complete duplication of the middle bones of the toes"], "types": ["T190"], "canonical_name": "Duplication of middle phalanx of toe", "definition": "Partial or complete duplication of a middle phalanx of toe. [HPO:probinson]"} {"concept_id": "C4021319", "aliases": ["Uneven increase in bone density in middle toe bone", "Patchy sclerosis of the middle phalanges of the toes"], "types": ["T190"], "canonical_name": "Patchy sclerosis of middle toe phalanx", "definition": "Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4021320", "aliases": ["Curved middle phalanges of the toes", "Curved middle bones of the toes"], "types": ["T190"], "canonical_name": "Curved middle toe phalanx", "definition": "A deviation from the normal straight form of one or more middle toe phalanges. [HPO:probinson]"} {"concept_id": "C4021321", "aliases": ["Bullet-shaped middle phalanges of the toes", "Bullet-shaped middle bones of the toes"], "types": ["T190"], "canonical_name": "Bullet-shaped middle toe phalanx", "definition": "An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4021322", "aliases": ["Partial/complete duplication of the distal phalanges of the toes", "Duplication of outermost bone of toe"], "types": ["T190"], "canonical_name": "Duplication of distal phalanx of toe", "definition": "A partial or complete duplication of one or more distal phalanx of toe. [HPO:sdoelken]"} {"concept_id": "C4021323", "aliases": ["Patchy sclerosis of the distal phalanges of the toes", "Uneven increase in bone density in outermost toe bone"], "types": ["T190"], "canonical_name": "Patchy sclerosis of distal toe phalanx", "definition": "Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4021324", "aliases": ["Curved distal phalanges of the toes", "Curved outermost bone of the toe"], "types": ["T190"], "canonical_name": "Curved distal toe phalanx", "definition": "A deviation from the normal straight form of one or more distal toe phalanges. [HPO:probinson]"} {"concept_id": "C4021325", "aliases": ["Bullet-shaped distal phalanges of the toes", "Bullet-shaped outermost bone of the toe"], "types": ["T190"], "canonical_name": "Bullet-shaped distal toe phalanx", "definition": "An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4021326", "aliases": ["Absent/hypoplastic terminal phalanges of toes", "Absent/underdeveloped outermost bones of toe", "Absent/small outermost bones of toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the distal phalanges of the toes", "definition": "Absence or underdevelopment of the distal phalanges of the toes. [HPO:probinson]"} {"concept_id": "C4021327", "aliases": ["Abnormal innermost toe bone", "Abnormality of the proximal phalanges of the toes"], "types": ["T190"], "canonical_name": "Abnormality of toe proximal phalanx", "definition": "A morphological anomaly of one or more proximal phalanges of one or more toes. [HPO:probinson]"} {"concept_id": "C4021328", "aliases": ["Duplicated toe bone", "Partial/complete duplication of the phalanges of the toes"], "types": ["T190"], "canonical_name": "Duplication of phalanx of toe", "definition": "Partial/complete duplication of one or more phalanx of toe. [HPO:probinson]"} {"concept_id": "C4021329", "aliases": ["Patchy sclerosis of the phalanges of the toes", "Uneven increase in bone density in toe bone"], "types": ["T190"], "canonical_name": "Patchy sclerosis of toe phalanx", "definition": "Uneven (irregular) increase in bone density of one or more of the phalanges of the foot. [HPO:probinson]"} {"concept_id": "C4021330", "aliases": ["Curved toe bone", "Curved phalanges of the toes"], "types": ["T190"], "canonical_name": "Curved toe phalanx", "definition": "A deviation from the normal straight form of one or more toe phalanges. [HPO:probinson]"} {"concept_id": "C4021331", "aliases": ["Bullet-shaped toe bone", "Bullet-shaped phalanges of the toes"], "types": ["T190"], "canonical_name": "Bullet-shaped toe phalanx", "definition": "An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4021332", "aliases": ["Speckled calcifications in long toe bones", "Stippling of the epiphyses of the toes"], "types": ["T190"], "canonical_name": "Epiphyseal stippling of toe phalanges", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes. [HPO:probinson]"} {"concept_id": "C4021333", "aliases": ["Central polydactyly of feet"], "types": ["T019"], "canonical_name": "Mesoaxial foot polydactyly", "definition": "The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. [HPO:probinson]"} {"concept_id": "C4021334", "aliases": ["Hypoplastic phalanges of the hallux", "Short bone of big toe"], "types": ["T190"], "canonical_name": "Short phalanx of hallux", "definition": "Underdevelopment (hypoplasia) of a phalanx of big toe. [HPO:probinson]"} {"concept_id": "C4021335", "aliases": ["Small distal phalanx of big toe", "Hypoplastic/small distal phalanx of the hallux", "Small outermost bone of big toe", "Small distal phalanx of hallux"], "types": ["T190"], "canonical_name": "Short distal phalanx of hallux", "definition": "Underdevelopment (hypoplasia) of the distal phalanx of big toe. [HPO:probinson]"} {"concept_id": "C4021336", "aliases": ["Complete duplication of big toe bones", "Complete duplication of the phalanges of the hallux"], "types": ["T190"], "canonical_name": "Complete duplication of hallux phalanx", "definition": "Complete duplication of one or more phalanx of big toe. [HPO:probinson]"} {"concept_id": "C4021337", "aliases": ["Partial duplication of the outermost bone of big toe", "Bifid distal phalanx of hallux", "Notched outermost bone of big toe"], "types": ["T190"], "canonical_name": "Partial duplication of the distal phalanx of the hallux"} {"concept_id": "C4021338", "aliases": ["Broad proximal phalanx of the big toe", "Broad innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Broad proximal phalanx of the hallux", "definition": "Increased width of proximal phalanx of big toe. [HPO:probinson]"} {"concept_id": "C4021339", "aliases": ["Partial/complete duplication of the distal phalanx of the hallux", "Duplication of the outermost bone of big toe"], "types": ["T190"], "canonical_name": "Duplication of the distal phalanx of the hallux"} {"concept_id": "C4021340", "aliases": ["Patchy sclerosis of the phalanges of the hallux", "Uneven increase in bone density in big toe bone"], "types": ["T190"], "canonical_name": "Patchy sclerosis of hallux phalanx", "definition": "Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4021341", "aliases": ["Curved phalanges of the hallux", "Curve bones of big toe"], "types": ["T190"], "canonical_name": "Curved hallux phalanx", "definition": "A deviation from the normal straight form of one or more phalanges of the big toe. [HPO:probinson]"} {"concept_id": "C4021342", "aliases": ["Bullet-shaped phalanges of the hallux", "Bullet-shaped bone of big toe"], "types": ["T190"], "canonical_name": "Bullet-shaped hallux phalanx", "definition": "An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4021343", "aliases": ["Broad bone of big toe", "Broad phalanges of the hallux", "Wide bone of big toe"], "types": ["T190"], "canonical_name": "Broad hallux phalanx", "definition": "An increase in width in one or more phalanges of the big toe. [HPO:probinson]"} {"concept_id": "C4021344", "aliases": ["Displacement of the hallux", "Displacement of big toe"], "types": ["T190"], "canonical_name": "Deviation of the hallux", "definition": "Displacement of the big toe from its normal position. [HPO:curators]"} {"concept_id": "C4021345", "aliases": ["Speckled calcifications in the end part of the first long bone of hand", "Stippling of the epiphysis of the 1st metacarpal"], "types": ["T033"], "canonical_name": "Epiphyseal stippling of the first metacarpal", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone. [HPO:probinson]"} {"concept_id": "C4021346", "aliases": ["Duplication of the middle bones of hand", "Partial/complete duplication of the middle phalanges of the hand"], "types": ["T019"], "canonical_name": "Duplication of the middle phalanx of hand", "definition": "This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]"} {"concept_id": "C4021347", "aliases": ["Partial/complete duplication of the proximal phalanges of the hand", "Duplication of the innermost bones of hand"], "types": ["T190"], "canonical_name": "Duplication of the proximal phalanx of hand", "definition": "This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]"} {"concept_id": "C4021348", "aliases": ["Partial duplication of the outermost bone of the hand", "Bifid terminal phalanges of the hand"], "types": ["T190"], "canonical_name": "Partial duplication of the distal phalanges of the hand", "definition": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]"} {"concept_id": "C4021349", "aliases": ["Duplication of finger bones"], "types": ["T190"], "canonical_name": "Duplication of phalanx of hand", "definition": "This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]"} {"concept_id": "C4021350", "aliases": ["Notched outermost pinky finger bone", "Partial duplication of outermost little finger bone", "Partial duplication of outermost pinky finger bone", "Partial duplication of outermost pinkie finger bone", "Bifid terminal phalanx of the 5th finger"], "types": ["T190"], "canonical_name": "Partial duplication of the distal phalanx of the 5th finger", "definition": "Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]"} {"concept_id": "C4021351", "aliases": ["Partial/complete duplication of the proximal phalanx of the 5th finger", "Duplication of the innermost little finger bone", "Duplication of the innermost pinkie finger bone", "Duplication of the innermost pinky finger bone"], "types": ["T190"], "canonical_name": "Duplication of the proximal phalanx of the 5th finger", "definition": "Partial or complete duplication of the fifth proximal phalanx of hand. [HPO:probinson]"} {"concept_id": "C4021352", "aliases": ["Duplication of the middle little finger bone", "Duplication of the middle pinkie finger bone", "Duplication of the middle pinky finger bone", "Partial/complete duplication of the middle phalanx of the 5th finger"], "types": ["T190"], "canonical_name": "Duplication of the middle phalanx of the 5th finger", "definition": "Partial or complete duplication of the fifth middle phalanx of hand. [HPO:probinson]"} {"concept_id": "C4021353", "aliases": ["Duplication of the outermost pinky finger bone", "Duplication of the outermost little finger bone", "Duplication of the outermost pinkie finger bone", "Partial/complete duplication of the distal phalanx of the 5th finger"], "types": ["T190"], "canonical_name": "Duplication of the distal phalanx of the 5th finger", "definition": "Partial or complete duplication of the distal phalanx of little finger. [HPO:probinson]"} {"concept_id": "C4021354", "aliases": ["Partial/complete duplication of little finger bone", "Partial/complete duplication of pinky finger bone", "Partial/complete duplication of phalanges of the 5th finger", "Partial/complete duplication of pinkie finger bone"], "types": ["T190"], "canonical_name": "Duplication of phalanx of 5th finger", "definition": "This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]"} {"concept_id": "C4021355", "aliases": ["Partial duplication of the outermost bone of the ring finger", "Notched outermost bone of the ring finger", "Bifid terminal phalanx of the 4th finger"], "types": ["T190"], "canonical_name": "Partial duplication of the distal phalanx of the 4th finger", "definition": "Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]"} {"concept_id": "C4021356", "aliases": ["Duplication of the proximal bone of the ring finger", "Partial/complete duplication of the proximal phalanx of the 4th finger"], "types": ["T190"], "canonical_name": "Duplication of the proximal phalanx of the 4th finger", "definition": "Partial or complete duplication of the fourth proximal phalanx of hand. [HPO:probinson]"} {"concept_id": "C4021357", "aliases": ["Partial/complete duplication of the middle bone of the ring finger", "Partial/complete duplication of the middle phalanx of the 4th finger"], "types": ["T190"], "canonical_name": "Duplication of the middle phalanx of the 4th finger", "definition": "Partial or complete duplication of the middle phalanx of ring finger. [HPO:probinson]"} {"concept_id": "C4021358", "aliases": ["Partial/complete duplication of the outermost bone of the ring finger", "Partial/complete duplication of the distal phalanx of the 4th finger"], "types": ["T190"], "canonical_name": "Duplication of the distal phalanx of the 4th finger", "definition": "Partial or complete duplication of the distal phalanx of ring finger. [HPO:probinson]"} {"concept_id": "C4021359", "aliases": ["Partial/complete duplication of phalanges of the 4th finger", "Duplication of bones of the ring finger"], "types": ["T190"], "canonical_name": "Duplication of phalanx of 4th finger", "definition": "This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]"} {"concept_id": "C4021360", "aliases": ["Bifid terminal phalanx of the 3rd finger", "Notched outermost bone of the middle finger", "Partial duplication of the outermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Partial duplication of the distal phalanx of the 3rd finger", "definition": "Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]"} {"concept_id": "C4021361", "aliases": ["Duplication of the proximal bone of the middle finger", "Partial/complete duplication of the proximal phalanx of the 3rd finger"], "types": ["T190"], "canonical_name": "Duplication of the proximal phalanx of the 3rd finger", "definition": "Partial or complete duplication of the third proximal phalanx of hand. [HPO:probinson]"} {"concept_id": "C4021362", "aliases": ["Duplication of the middle bone of the middle finger", "Partial/complete duplication of the middle phalanx of the 3rd finger"], "types": ["T190"], "canonical_name": "Duplication of the middle phalanx of the 3rd finger", "definition": "Partial or complete duplication of the middle phalanx of middle finger. [HPO:probinson]"} {"concept_id": "C4021363", "aliases": ["Partial/complete duplication of the outermost bone of the middle finger", "Partial/complete duplication of the distal phalanx of the 3rd finger"], "types": ["T190"], "canonical_name": "Duplication of the distal phalanx of the 3rd finger", "definition": "Partial or complete duplication of the distal phalanx of middle finger. [HPO:probinson]"} {"concept_id": "C4021364", "aliases": ["Duplication of middle finger bone", "Partial/complete duplication of phalanges of the 3rd finger"], "types": ["T190"], "canonical_name": "Duplication of phalanx of 3rd finger", "definition": "This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]"} {"concept_id": "C4021365", "aliases": ["Notched outermost bone of the index finger", "Bifid terminal phalanx of the 2nd finger", "Partial duplication of the outermost bone of the 2nd finger"], "types": ["T190"], "canonical_name": "Partial duplication of the distal phalanx of the 2nd finger", "definition": "Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken, PMID:29864040]"} {"concept_id": "C4021366", "aliases": ["Partial/complete duplication of the middle bone of the index finger", "Partial/complete duplication of the middle phalanx of the 2nd finger"], "types": ["T190"], "canonical_name": "Duplication of the middle phalanx of the 2nd finger", "definition": "Partial or complete duplication of the middle phalanx of index finger. [HPO:probinson]"} {"concept_id": "C4021367", "aliases": ["Partial/complete duplication of the distal phalanx of the 2nd finger", "Partial/complete duplication of the outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Duplication of the distal phalanx of the 2nd finger", "definition": "Partial or complete duplication of the distal phalanx of index finger. [HPO:probinson]"} {"concept_id": "C4021368", "aliases": ["Partial/complete duplication of the proximal phalanx of the 2nd finger", "Duplication of the proximal bone of the index finger"], "types": ["T019"], "canonical_name": "Duplication of the proximal phalanx of the 2nd finger", "definition": "Partial or complete duplication of the second proximal phalanx of hand. [HPO:probinson]"} {"concept_id": "C4021369", "aliases": ["Partial/complete duplication of phalanges of the 2nd finger", "Duplication of the bones of index finger"], "types": ["T190"], "canonical_name": "Duplication of phalanx of 2nd finger", "definition": "This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:curators]"} {"concept_id": "C4021370", "aliases": ["Duplicated thumb", "Complete/partial duplication of phalanges of the thumb", "Duplication of phalanx of thumb", "Duplicated thumbs"], "types": ["T190"], "canonical_name": "Duplication of thumb phalanx", "definition": "Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:sdoelken]"} {"concept_id": "C4021371", "aliases": ["Missing lower jaw", "Absence of lower jaw bones"], "types": ["T033"], "canonical_name": "Absent mandible"} {"concept_id": "C4021372", "aliases": ["Accessory nares", "Accessory nostril", "Supernumerary nostrils", "Extra nostril", "Supernumerary naris"], "types": ["T190"], "definition": "The presence of more than two nostrils. [PMID:19152422]", "canonical_name": "Supernumerary nares"} {"concept_id": "C4021373", "aliases": ["Asymmetry of the corneas"], "types": ["T190"], "canonical_name": "Corneal asymmetry", "definition": "The presence of a size difference between the left and right cornea. [HPO:probinson]"} {"concept_id": "C4021374", "aliases": ["Absent middle ear bones", "Absent middle ear ossicles"], "types": ["T033"], "canonical_name": "Aplasia of the middle ear ossicles", "definition": "Absence of the middle ear ossicles, malleus, incus, and stapes. [HPO:probinson]"} {"concept_id": "C4021375", "aliases": ["Attached earlobe", "Adherent earlobe"], "types": ["T033"], "canonical_name": "Attached earlobe", "definition": "Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. [PMID:19152421]"} {"concept_id": "C4021376", "aliases": ["Notching of the ear helix", "Notched helix"], "types": ["T190"], "canonical_name": "Cleft helix", "definition": "A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length. [HPO:probinson, PMID:19152421]"} {"concept_id": "C4021377", "aliases": ["Hyperplastic helix crus", "Helix, crus, prominent", "Hypertrophic helix crus", "Abnormal prominence of the crus of the ear"], "types": ["T190"], "canonical_name": "Prominent crus of helix", "definition": "The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix. [HPO:probinson, PMID:19152421]"} {"concept_id": "C4021378", "aliases": ["Underdeveloped crus of the ear", "Hypoplasia of the crus of the ear"], "types": ["T190"], "canonical_name": "Underdeveloped crus of the helix", "definition": "Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average. [HPO:probinson, PMID:19152421]"} {"concept_id": "C4021379", "aliases": ["Horizontal orientation of the crus of helix", "Horizontal orientation of the ear crus", "Helix, crus, horizontal"], "types": ["T190"], "canonical_name": "Horizontal crus of helix", "definition": "An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly. [HPO:probinson, PMID:19152421]"} {"concept_id": "C4021380", "aliases": ["Abnormality of the crus of the ear"], "types": ["T190"], "canonical_name": "Abnormality of the crus of the helix", "definition": "An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. [HPO:probinson]"} {"concept_id": "C4021381", "aliases": ["Patchy sclerosis of the proximal phalanges of the hand", "Uneven increase in bone density in innermost finger bone"], "types": ["T190"], "canonical_name": "Patchy sclerosis of proximal phalanx of finger", "definition": "Uneven increase in bone density of the proximal phalanges of the hand. [HPO:probinson]"} {"concept_id": "C4021382", "aliases": ["Uneven increase in bone density in the middle finger bones of the hand", "Patchy sclerosis of the middle phalanges of the hand"], "types": ["T033"], "canonical_name": "Patchy sclerosis of middle phalanx of finger", "definition": "Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand. [HPO:probinson]"} {"concept_id": "C4021383", "aliases": ["Broad middle phalanges of the hand", "Broad middle finger bones", "Broad middle phalanges of finger"], "types": ["T190"], "canonical_name": "Broad middle phalanx of finger", "definition": "Increased width of the middle phalanx of finger. [HPO:probinson]"} {"concept_id": "C4021384", "aliases": ["Uneven increase in bone density in outermost finger bone", "Patchy sclerosis of the distal phalanges of the hand"], "types": ["T190"], "canonical_name": "Patchy sclerosis of distal phalanx of finger", "definition": "Uneven (irregular) increase in bone density of the distal phalanges of the hand. [HPO:probinson]"} {"concept_id": "C4021385", "aliases": ["Abnormality of the distal phalanx of finger", "Abnormality of the outermost finger bone", "Abnormality of the distal phalanges of the hand", "Abnormal terminal phalanges of the hand"], "types": ["T190"], "canonical_name": "Abnormal distal phalanx morphology of finger", "definition": "Any anomaly of distal phalanx of finger. [HPO:probinson]"} {"concept_id": "C4021386", "aliases": ["Abnormality of the elbows", "Abnormality of the elbow"], "types": ["T190"], "canonical_name": "Abnormality of the elbow", "definition": "An anomaly of the joint that connects the upper and the lower arm. [HPO:probinson]"} {"concept_id": "C4021387", "aliases": ["Abnormality of upper limb joint", "Abnormality of the joints of the upper limbs"], "types": ["T190"], "canonical_name": "Abnormality of upper limb joint"} {"concept_id": "C4021388", "aliases": ["Metaphyseal abnormality of the upper limbs", "Abnormality of the wide portion of upper limb bone"], "types": ["T190"], "canonical_name": "Abnormality of upper limb metaphysis", "definition": "An anomaly of one or more metaphyses of the arms. [HPO:probinson]"} {"concept_id": "C4021389", "aliases": ["Diaphyseal abnormality of the upper limbs", "Abnormality involving the diaphyses of the upper limbs", "Abnormality of shaft of long bone of the upper limbs"], "types": ["T190"], "canonical_name": "Anomaly of the upper limb diaphyses", "definition": "A structural abnormality of a diaphysis of the arm. [UToronto:htrang]"} {"concept_id": "C4021390", "aliases": ["Fused finger bones of the hand", "Synostosis involving phalanges of the hand"], "types": ["T190"], "canonical_name": "Symphalangism affecting the phalanges of the hand", "definition": "Fusion of two or more phalangeal bones of the hand. [HPO:curators]"} {"concept_id": "C4021391", "aliases": ["Widening of phalanges of the hand", "Wide hand bones"], "types": ["T190"], "canonical_name": "Broad phalanges of the hand", "definition": "Increased width of the phalanges of the hand. [HPO:curators]"} {"concept_id": "C4021392", "aliases": ["Alveolar synechiae", "Fusion of the alveolar ridges"], "types": ["T190"], "canonical_name": "Fibrous syngnathia", "definition": "Complete or nearly complete soft tissue fusion of the alveolar ridges. [PMID:19125428]"} {"concept_id": "C4021394", "aliases": ["Hypoplastic antihelix"], "types": ["T190"], "canonical_name": "Hypoplasia of the antihelix", "definition": "Developmental hypoplasia of the antihelix. [HPO:probinson]"} {"concept_id": "C4021395", "aliases": ["Abnormal antehelix", "Abnormal anthelix", "Abnormal antihelix"], "types": ["T190"], "canonical_name": "Abnormal antihelix morphology", "definition": "An abnormality of the antihelix. [HPO:probinson]"} {"concept_id": "C4021396", "aliases": ["Tumours of striated muscle", "Tumors of striated muscle"], "types": ["T191"], "canonical_name": "Neoplasm of striated muscle", "definition": "A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle. [HPO:sdoelken]"} {"concept_id": "C4021397", "aliases": ["Fusion involving 1st long bone of hand", "Symphalangism affecting the 1st metacarpal", "First metacarpophalangeal joint synostosis"], "types": ["T190"], "canonical_name": "Synostosis involving the 1st metacarpal", "definition": "Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]"} {"concept_id": "C4021398", "aliases": ["Synostosis involving metacarpal bones", "Synostosis involving the metacarpal bones", "Fused long bones of hand"], "types": ["T190"], "canonical_name": "Metacarpal synostosis", "definition": "Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). [HPO:probinson]"} {"concept_id": "C4021399", "aliases": ["Synostosis involving bones of the fingers", "Symphalangism of the hand", "Fused finger bones"], "types": ["T190"], "canonical_name": "Finger symphalangism", "definition": "An abnormal union between bones or parts of bones of the fingers. The synonymous term symphalangism of the hand\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \"Symphalangism\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \"bony\" Syndactyly.\" [HPO:sdoelken]"} {"concept_id": "C4021400", "aliases": ["Lytic defects of hand bones"], "types": ["T047"], "canonical_name": "Osteolytic defects of the hand bones"} {"concept_id": "C4021401", "aliases": ["Stippling of the epiphyses of the thumb", "Speckled calcifications in end part of thumb bone"], "types": ["T190"], "canonical_name": "Stippling of thumb epiphysis", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb. [HPO:probinson]"} {"concept_id": "C4021402", "aliases": ["Small end part of thumb long bone", "Small epiphyses of the thumb"], "types": ["T190"], "canonical_name": "Small thumb epiphysis", "definition": "Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms. [HPO:probinson]"} {"concept_id": "C4021403", "aliases": ["Ivory epiphyses of the thumb", "Increased bone density of end part of the thumb"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the thumb", "definition": "Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:probinson]"} {"concept_id": "C4021404", "aliases": ["Irregular epiphyses of the thumb", "Irregular end part of thumb long bone"], "types": ["T190"], "canonical_name": "Irregular thumb epiphysis", "definition": "Uneven radiographic opacity of the one or more epiphyses of the thumb. [HPO:probinson]"} {"concept_id": "C4021405", "aliases": ["Fragmentation of the epiphyses of the thumb", "Fragmentation of end part of long bone of thumb"], "types": ["T190"], "canonical_name": "Fragmentation of thumb epiphysis", "definition": "Epiphysis of the thumb having multiple bony fragments. [HPO:probinson]"} {"concept_id": "C4021406", "aliases": ["Enlarged end part of thumb long bone", "Enlarged epiphyses of the thumb"], "types": ["T190"], "canonical_name": "Enlarged thumb epiphysis", "definition": "Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms. [HPO:probinson]"} {"concept_id": "C4021407", "aliases": ["Cone-shaped end part of thumb long bone", "Cone-shaped epiphyses of the thumb", "Cone-shaped thumb epiphyses"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the thumb", "definition": "A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. [HPO:probinson]"} {"concept_id": "C4021408", "aliases": ["Large terminal thumb phalanx epiphysis", "Enlarged end part of thumb outermost long bone"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the distal phalanx of the thumb", "definition": "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4021409", "aliases": ["Cone-shaped terminal thumb phalanx epiphysis", "Cone-shaped end part of thumb outermost long bone"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the distal phalanx of the thumb", "definition": "A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:probinson]"} {"concept_id": "C4021410", "aliases": ["Abnormality of terminal thumb epiphysis", "Abnormality of the end part of the outermost bone of the thumb"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the distal phalanx of the thumb", "definition": "Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx. [HPO:curators]"} {"concept_id": "C4021411", "aliases": ["Short thumb bone", "Hypoplastic thumb phalanges", "Short thumb phalanges", "Hypoplastic/small phalanges of the thumb"], "types": ["T190"], "canonical_name": "Short phalanx of the thumb", "definition": "Hypoplastic (short) thumb phalanx. [HPO:probinson]"} {"concept_id": "C4021412", "aliases": ["Triangular thumb phalanges", "Triangular shaped phalanges of the thumb", "Triangular shaped thumb bone"], "types": ["T190"], "canonical_name": "Triangular shaped thumb phalanx", "definition": "Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle. [HPO:probinson]"} {"concept_id": "C4021413", "aliases": ["Patchy sclerosis of the phalanges of the thumb", "Uneven increase in bone density in thumb bone"], "types": ["T190"], "canonical_name": "Patchy sclerosis of thumb phalanx", "definition": "An uneven increase in bone density of one or more of the phalanges of the thumb. [HPO:probinson]"} {"concept_id": "C4021414", "aliases": ["Curved phalanges of the thumb", "Curved thumb bone"], "types": ["T190"], "canonical_name": "Curved thumb phalanx", "definition": "A deviation from the normal straight shape of a thumb phalanx. [HPO:probinson]"} {"concept_id": "C4021415", "aliases": ["Bullet-shaped phalanges of the thumb", "Bullet-shaped thumb bone"], "types": ["T190"], "canonical_name": "Bullet-shaped thumb phalanx", "definition": "An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4021416", "aliases": ["Absence of the outermost bone of the thumb", "Aplasia of the outermost bone of the thumb", "Absent ossification/absent terminal thumb phalanx"], "types": ["T033"], "canonical_name": "Aplasia of the distal phalanx of the thumb", "definition": "Absence of the distal/terminal phalanx of the thumb. [HPO:curators]"} {"concept_id": "C4021417", "aliases": ["Osteolytic defects of the distal phalanx of the thumb", "Osteolytic defects of the outermost bone of the thumb"], "types": ["T190"], "canonical_name": "Osteolytic defect of the distal phalanx of the thumb", "definition": "Dissolution or degeneration of bone tissue of the distal phalanx of the thumb. [HPO:probinson]"} {"concept_id": "C4021418", "aliases": ["Aplasia of the proximal phalanx of the thumb", "Absent ossification/absent proximal thumb phalanx", "Absent innermost thumb bone"], "types": ["T033"], "canonical_name": "Absent proximal phalanx of thumb", "definition": "Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:probinson]"} {"concept_id": "C4021419", "aliases": ["Triangular proximal thumb phalanx", "Triangular innermost thumb bone"], "types": ["T190"], "canonical_name": "Triangular shaped proximal phalanx of the thumb", "definition": "Triangular shaped proximal phalanx of the thumb. [HPO:probinson]"} {"concept_id": "C4021420", "aliases": ["Osteolytic defects of the proximal phalanx of the thumb"], "types": ["T190"], "canonical_name": "Osteolytic defect of the proximal phalanx of the thumb", "definition": "Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb. [HPO:probinson]"} {"concept_id": "C4021421", "aliases": ["Abnormal innermost thumb bone", "Abnormality of proximal thumb phalanx"], "types": ["T190"], "canonical_name": "Abnormality of the proximal phalanx of the thumb", "definition": "An anomaly of the shape or form of the proximal phalanx of the thumb. [HPO:curators]"} {"concept_id": "C4021422", "aliases": ["Abnormality of the outermost bone of the thumb", "Abnormality of terminal thumb phalanx"], "types": ["T190"], "canonical_name": "Abnormality of the distal phalanx of the thumb", "definition": "Any anomaly of the distal phalanx of thumb. [HPO:probinson]"} {"concept_id": "C4021423", "aliases": ["Notched first long bone of hand", "partial duplication of the first metacarpal"], "types": ["T019"], "canonical_name": "Bifid first metacarpal", "definition": "Partial duplication of the first metacarpal bone. [HPO:probinson]"} {"concept_id": "C4021424", "aliases": ["Partial/complete duplication of the proximal phalanx of the thumb", "Notched innermost bone of thumb"], "types": ["T190"], "canonical_name": "Duplication of the proximal phalanx of the thumb", "definition": "Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:sdoelken]"} {"concept_id": "C4021425", "aliases": ["Duplication of distal thumb phalanx", "Double thumb distal phalanges", "Duplication of terminal thumb phalanx", "Duplication of the outermost bone of the thumb", "Duplicated terminal phalanx of thumb", "Partial/complete duplication of the distal phalanx of the thumb"], "types": ["T190"], "canonical_name": "Duplication of the distal phalanx of the thumb", "definition": "Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. [HPO:sdoelken]"} {"concept_id": "C4021426", "aliases": ["Partial/complete duplication of the 1st long bone of hand", "Partial/complete duplication of the 1st metacarpal"], "types": ["T190"], "canonical_name": "Duplication of the 1st metacarpal", "definition": "Partail or complete duplication of the first metacarpal bone. [HPO:probinson]"} {"concept_id": "C4021427", "aliases": ["Complete duplication of outermost bone of the thumb"], "types": ["T190"], "canonical_name": "Complete duplication of distal phalanx of the thumb", "definition": "Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. [HPO:curators]"} {"concept_id": "C4021428", "aliases": ["Abnormality of thumb phalanges", "Abnormality of the thumb bones"], "types": ["T190"], "canonical_name": "Abnormality of thumb phalanx", "definition": "A structural anomaly of one or more phalanges of the thumb. [HPO:probinson]"} {"concept_id": "C4021429", "aliases": ["Abnormality of the epiphyses of the thumb", "Abnormality of thumb epiphyses", "Abnormality of end part of thumb long bone"], "types": ["T190"], "canonical_name": "Abnormality of thumb epiphysis", "definition": "Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal. [HPO:probinson]"} {"concept_id": "C4021430", "aliases": ["Short proximal phalanx of the second finger", "Hypoplastic/small proximal phalanx of the 2nd finger", "Short proximal index finger phalanx"], "types": ["T190"], "canonical_name": "Short proximal phalanx of the 2nd finger", "definition": "Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger. [HPO:sdoelken]"} {"concept_id": "C4021431", "aliases": ["Abnormality of the VIIIth cranial nerve", "Abnormality of the eighth cranial nerve"], "types": ["T190"], "canonical_name": "Abnormality of the vestibulocochlear nerve", "definition": "Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain. [HPO:probinson]"} {"concept_id": "C4021432", "aliases": ["Triangular shaped innermost bone of index finger", "Triangular proximal index finger phalanx"], "types": ["T190"], "canonical_name": "Triangular shaped proximal phalanx of the 2nd finger", "definition": "Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4021433", "aliases": ["Lytic defects of proximal index finger phalanx"], "types": ["T190"], "canonical_name": "Osteolytic defects of the proximal phalanx of the 2nd finger", "definition": "Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger. [HPO:curators]"} {"concept_id": "C4021434", "aliases": ["Wide innermost bone of index finger", "Wide/broad proximal index finger phalanx"], "types": ["T190"], "canonical_name": "Broad proximal phalanx of the 2nd finger", "definition": "Increased width of the proximal phalanx of the 2nd finger. [HPO:curators]"} {"concept_id": "C4021435", "aliases": ["Hypoplastic/small middle phalanx of the 2nd finger", "Short middle bone of index finger", "Brachymesophalangy II (finger)", "Hypoplastic middle index finger phalanx"], "types": ["T190"], "canonical_name": "Short middle phalanx of the 2nd finger", "definition": "Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. [HPO:sdoelken]"} {"concept_id": "C4021436", "aliases": ["Absent middle bone of index finger", "Aplasia of the middle phalanx of the 2nd finger", "Absent middle phalanx of index finger"], "types": ["T033"], "canonical_name": "Absent middle phalanx of 2nd finger", "definition": "Absence of the middle phalanx of the index (2nd) finger. [HPO:curators]"} {"concept_id": "C4021437", "aliases": ["Lytic defects of middle index finger phalanx"], "types": ["T190"], "canonical_name": "Osteolytic defects of the middle phalanx of the 2nd finger", "definition": "Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger. [HPO:curators]"} {"concept_id": "C4021438", "aliases": ["Hypoplastic terminal index finger phalanx", "Short distal phalanx of the second finger", "Short outermost bone of the index finger", "Hypoplastic/small distal phalanx of the 2nd finger", "Short terminal index finger phalanx"], "types": ["T190"], "canonical_name": "Short distal phalanx of the 2nd finger", "definition": "Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger. [HPO:probinson]"} {"concept_id": "C4021439", "aliases": ["Absent outermost index finger bone", "Absent terminal index finger phalanx"], "types": ["T033"], "canonical_name": "Aplasia of the distal phalanx of the 2nd finger"} {"concept_id": "C4021440", "aliases": ["Fused outermost and middle index finger bones", "Symphalangism of the distal and middle phalanges of the 2nd finger"], "types": ["T190"], "canonical_name": "Distal/middle symphalangism of 2nd finger", "definition": "Fusion of the terminal/distal and middle phalanges of the 2nd finger. [HPO:curators]"} {"concept_id": "C4021441", "aliases": ["Acro-osteolysis of terminal index finger phalanx", "Osteolytic defects of the outermost bone of the 2nd finger", "Acro-osteolysis of index finger"], "types": ["T190"], "canonical_name": "Osteolytic defects of the distal phalanx of the 2nd finger", "definition": "Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger. [HPO:curators]"} {"concept_id": "C4021442", "aliases": ["Uneven increase in bone density in index finger bone", "Patchy sclerosis of the phalanges of the 2nd finger"], "types": ["T033"], "canonical_name": "Patchy sclerosis of 2nd finger phalanx", "definition": "Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger. [HPO:probinson]"} {"concept_id": "C4021443", "aliases": ["Lytic defect in index finger phalanges"], "types": ["T033"], "canonical_name": "Osteolytic defects of the phalanges of the 2nd finger"} {"concept_id": "C4021444", "aliases": ["Wide index finger bones", "Wide/broad index finger phalanges"], "types": ["T033"], "canonical_name": "Broad phalanges of the 2nd finger"} {"concept_id": "C4021445", "aliases": ["Triangular bones of index finger", "Triangular index finger phalanges"], "types": ["T190"], "canonical_name": "Triangular shaped phalanges of the 2nd finger", "definition": "Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4021446", "aliases": ["Fused index finger bones", "Symphalangism of index finger phalanges"], "types": ["T190"], "canonical_name": "Symphalangism of the 2nd finger"} {"concept_id": "C4021447", "aliases": ["Abnormal innermost index finger bone", "Abnormality of the proximal 2nd finger phalanx"], "types": ["T190"], "canonical_name": "Abnormality of the proximal phalanx of the 2nd finger"} {"concept_id": "C4021448", "aliases": ["Abnormal middle index finger bone", "Abnormality of middle 2nd finger phalanx"], "types": ["T190"], "canonical_name": "Abnormality of the middle phalanx of the 2nd finger"} {"concept_id": "C4021449", "aliases": ["Abnormality of the outermost bone of the 2nd finger", "Abnormality of terminal index finger phalanx"], "types": ["T190"], "canonical_name": "Abnormality of the distal phalanx of the 2nd finger"} {"concept_id": "C4021450", "aliases": ["Abnormal index finger bones", "Abnormality of 2nd finger phalanges"], "types": ["T190"], "canonical_name": "Abnormality of the phalanges of the 2nd finger", "definition": "Abnormality of the phalanges of the 2nd (index) finger. [HPO:curators]"} {"concept_id": "C4021451", "aliases": ["Camptodactyly of second finger", "Camptodactyly of index finger", "Camptodactyly of 2nd finger"], "types": ["T190"], "canonical_name": "Contracture of the proximal interphalangeal joint of the 2nd finger", "definition": "Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. [HPO:probinson]"} {"concept_id": "C4021452", "aliases": ["Joint contractures of the 2nd finger"], "types": ["T033"], "canonical_name": "Flexion contracture of the 2nd finger", "definition": "Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected. [HPO:curators]"} {"concept_id": "C4021453", "aliases": ["Aplasia of the index finger", "Absent index finger", "Absent index finger phalanges"], "types": ["T190"], "canonical_name": "Aplasia of the 2nd finger", "definition": "Absent 2nd (index) finger. [HPO:curators]"} {"concept_id": "C4021454", "aliases": ["Triangular epiphysis of proximal index finger phalanx", "Triangular end part of innermost long bone of index finger"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the proximal phalanx of the 2nd finger"} {"concept_id": "C4021455", "aliases": ["Enlarged end part of innermost long bone of index finger", "Large epiphysis of proximal index finger phalanx"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the proximal phalanx of the 2nd finger"} {"concept_id": "C4021456", "aliases": ["Cone-shaped epiphysis of proximal index finger phalanx", "Cone-shaped end part of innermost long bone of index finger"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the proximal phalanx of the 2nd finger"} {"concept_id": "C4021457", "aliases": ["Bracket epiphyses of proximal index finger phalanx", "Bracket shaped end part of innermost long bone of index finger"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the proximal phalanx of the 2nd finger", "definition": "An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4021458", "aliases": ["Cone-shaped epiphyses of middle phalanx of index finger", "Cone-shaped end part of the middle long bone of the index finger"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the middle phalanx of the 2nd finger"} {"concept_id": "C4021459", "aliases": ["Missing end part of the middle long bone of the index finger", "Absent epiphyses of middle phalanx of index finger"], "types": ["T190"], "canonical_name": "Absent epiphysis of the middle phalanx of the 2nd finger"} {"concept_id": "C4021460", "aliases": ["Ivory epiphysis of terminal index finger phalanx", "Increased bone density of end part of the outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the distal phalanx of the 2nd finger", "definition": "Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4021461", "aliases": ["Absent ossification/absent epiphysis of terminal index finger phalanx", "Absent end part of the outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Absent epiphysis of the distal phalanx of the 2nd finger", "definition": "Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger. [HPO:curators]"} {"concept_id": "C4021462", "aliases": ["Epiphyseal abnormality of the proximal phalanx of the 2nd finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the proximal phalanx of the 2nd finger"} {"concept_id": "C4021463", "aliases": ["Epiphyseal abnormality of middle phalanx of the 2nd finger", "Abnormality of end part of the middle bone of the index finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the middle phalanx of the 2nd finger"} {"concept_id": "C4021464", "aliases": ["Epiphyseal abnormality of terminal index finger phalanx", "Abnormality of the end part of the outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the distal phalanx of the 2nd finger"} {"concept_id": "C4021465", "aliases": ["Accessory index finger epiphysis"], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the 2nd finger", "definition": "A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4021466", "aliases": ["Bracket shaped end part of index finger", "Bracket-epiphyses of index finger"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the 2nd finger", "definition": "An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4021467", "aliases": ["Camptodactyly of the 3rd finger", "Camptodactyly of the third finger"], "types": ["T190"], "canonical_name": "Contracture of the proximal interphalangeal joint of the 3rd finger", "definition": "Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. [HPO:curators]"} {"concept_id": "C4021468", "aliases": ["Displaced index finger", "Deviated index finger"], "types": ["T190"], "canonical_name": "Deviation of the 2nd finger", "definition": "Displacement of the 2nd finger from its normal position. [HPO:curators]"} {"concept_id": "C4021469", "aliases": ["Short middle finger", "Hypoplastic/small 3rd finger", "Short 3rd finger"], "types": ["T190"], "canonical_name": "Short 3rd finger", "definition": "Hypoplastic/small 3rd (middle) finger. [HPO:sdoelken]"} {"concept_id": "C4021470", "aliases": ["Short proximal phalanx of the third finger", "Small proximal middle-finger phalanx", "Hypoplastic/small proximal phalanx of the 3rd finger", "Short proximal middle-finger phalanx", "Short innermost bone of middle finger"], "types": ["T190"], "canonical_name": "Short proximal phalanx of the 3rd finger", "definition": "Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger. [HPO:sdoelken]"} {"concept_id": "C4021471", "aliases": ["Uneven increase in bone density in middle finger bone", "Patchy sclerosis of middle finger phalanges", "Patchy sclerosis of the phalanges of the 3rd finger"], "types": ["T190"], "canonical_name": "Patchy sclerosis of 3rd finger phalanx", "definition": "Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger. [HPO:probinson]"} {"concept_id": "C4021472", "aliases": ["Lytic defects of middle finger phalanges"], "types": ["T190"], "canonical_name": "Osteolytic defects of the phalanges of the 3rd finger", "definition": "Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger. [HPO:curators]"} {"concept_id": "C4021473", "aliases": ["Wide bones of middle finger", "Wide/broad middle finger phalanges"], "types": ["T190"], "canonical_name": "Broad phalanges of the 3rd finger", "definition": "Increased width of the phalanges of the 3rd finger. [HPO:curators]"} {"concept_id": "C4021474", "aliases": ["Short middle bone of middle finger", "Brachymesophalangy III (finger)", "Hypoplastic/small middle phalanx of the 3rd finger"], "types": ["T190"], "canonical_name": "Short middle phalanx of the 3rd finger", "definition": "Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger. [HPO:sdoelken]"} {"concept_id": "C4021475", "aliases": ["Absent middle phalanx of middle finger", "Aplasia of the middle phalanx of the 3rd finger", "Absent middle bone of middle finger"], "types": ["T190"], "canonical_name": "Absent middle phalanx of 3rd finger", "definition": "Absence of the middle phalanx of the middle (3rd) finger. [HPO:sdoelken]"} {"concept_id": "C4021476", "aliases": ["Broad middle bone of middle finger", "Wide/broad middle phalanx of middle-finger"], "types": ["T190"], "canonical_name": "Broad middle phalanx of the 3rd finger", "definition": "Increased width of the middle phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4021477", "aliases": ["Symphalangism of the distal and middle phalanges of the 3rd finger", "Fused outermost and middle bones of middle finger"], "types": ["T190"], "canonical_name": "Distal/middle symphalangism of 3rd finger", "definition": "Fusion of the terminal/distal and middle phalanges of the 3rd finger. [HPO:curators]"} {"concept_id": "C4021478", "aliases": ["Lytic defect of terminal phalanx of middle finger"], "types": ["T190"], "canonical_name": "Osteolytic defects of the distal phalanx of the 3rd finger", "definition": "Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4021479", "aliases": ["Delta-shaped epiphyses of the 3rd finger", "Triangular end part of middle finger bone"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the 3rd finger", "definition": "A triangular appearance of the epiphyses of the 3rd finger of the hand. [HPO:curators]"} {"concept_id": "C4021480", "aliases": ["Pseudoepiphyses of middle finger phalanges"], "types": ["T190"], "canonical_name": "Pseudoepiphyses of the 3rd finger", "definition": "A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4021481", "aliases": ["Patchy sclerosis of the phalanges of the 4th finger", "Uneven increase in bone density in ring finger bone"], "types": ["T033"], "canonical_name": "Patchy sclerosis of 4th finger phalanx", "definition": "Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger. [HPO:probinson]"} {"concept_id": "C4021482", "aliases": ["Delta-shaped epiphyses of the 4th finger", "Triangular end part of ring finger bone"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the 4th finger", "definition": "A triangular appearance of the epiphyses of the 4th finger of the hand. [HPO:curators]"} {"concept_id": "C4021483", "aliases": ["Triangular end part of the pinkie finger", "Triangular end part of the pinky finger", "Triangular end part of the little finger", "Delta-shaped epiphyses of the 5th finger"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the 5th finger", "definition": "A triangular appearance of the epiphyses of the 5th finger of the hand. [HPO:curators]"} {"concept_id": "C4021484", "aliases": ["Patchy sclerosis of the phalanges of the 5th finger", "Uneven increase in bone density in little finger bone", "Uneven increase in bone density in pinkie finger bone", "Uneven increase in bone density in pinky finger bone"], "types": ["T190"], "canonical_name": "Patchy sclerosis of 5th finger phalanx", "definition": "Uneven increase in bone density of one or more of the phalanges of the 5th finger. [HPO:probinson]"} {"concept_id": "C4021485", "aliases": ["Abnormal innermost bone of middle finger", "Abnormality of proximal middle-finger phalanx"], "types": ["T190"], "canonical_name": "Abnormality of the proximal phalanx of the 3rd finger"} {"concept_id": "C4021486", "aliases": ["Abnormality of terminal phalanx of middle-finger", "Abnormality of the outermost bone of the 3rd finger"], "types": ["T190"], "canonical_name": "Abnormality of the distal phalanx of the 3rd finger"} {"concept_id": "C4021487", "aliases": ["Delta-shaped epiphysis of the proximal phalanx of the 3rd finger", "Triangular end part of innermost long bone of the middle finger"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the proximal phalanx of the 3rd finger", "definition": "A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]"} {"concept_id": "C4021488", "aliases": ["Enlarged end part of innermost long bone of the middle finger", "Large epiphysis of proximal middle-finger phalanx"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the proximal phalanx of the 3rd finger", "definition": "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4021489", "aliases": ["Delta-shaped epiphysis of the distal phalanx of the 3rd finger", "Triangular end part of the outermost long bone of the middle finger"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the distal phalanx of the 3rd finger", "definition": "A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]"} {"concept_id": "C4021490", "aliases": ["Triangular end part of the middle bone of the middle finger", "Delta-shaped epiphysis of the middle phalanx of the 3rd finger"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the middle phalanx of the 3rd finger", "definition": "A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]"} {"concept_id": "C4021491", "aliases": ["Pseudoepiphyses of middle phalanx of middle-finger"], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the middle phalanx of the 3rd finger", "definition": "A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4021492", "aliases": ["Camptodactyly of middle finger"], "types": ["T033"], "canonical_name": "Joint contracture of the 3rd finger", "definition": "Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected. [HPO:probinson]"} {"concept_id": "C4021493", "aliases": ["Deviated middle finger"], "types": ["T190"], "canonical_name": "Deviation of the 3rd finger", "definition": "Displacement of the 3rd finger from its normal position. [HPO:curators]"} {"concept_id": "C4021494", "aliases": ["Abnormality of the middle finger bones", "Abnormality of middle finger phalanges", "Abnormality of the phalanges of the 3rd finger", "Abnormality of 3rd finger phalanges"], "types": ["T190"], "canonical_name": "Abnormal 3rd finger phalanx morphology", "definition": "Abnormality of the phalanges of the 3rd (middle) finger. [HPO:curators]"} {"concept_id": "C4021495", "aliases": ["Fused outermost and middle bones of ring finger", "Symphalangism of the distal and middle phalanges of the 4th finger"], "types": ["T190"], "canonical_name": "Distal/middle symphalangism of 4th finger", "definition": "Fusion of the terminal/distal and middle phalanges of the 4th finger. [HPO:curators]"} {"concept_id": "C4021496", "aliases": ["Short proximal phalanx of the fourth finger", "Short innermost bone of the ring finger", "Hypoplastic/small proximal phalanx of the 4th finger"], "types": ["T190"], "canonical_name": "Short proximal phalanx of the 4th finger", "definition": "Hypoplastic/small proximal phalanx of the fourth finger. [HPO:sdoelken]"} {"concept_id": "C4021497", "aliases": ["Short middle bone of 4th finger", "Hypoplastic/small middle phalanx of the 4th finger", "Short middle phalanx of ring finger", "Brachymesophalangy IV (finger)", "Hypoplastic/small middle phalanx of ring finger"], "types": ["T190"], "canonical_name": "Short middle phalanx of the 4th finger", "definition": "Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger. [HPO:sdoelken]"} {"concept_id": "C4021498", "aliases": ["Absent middle bone of 4th finger", "Aplasia of the middle phalanx of the 4th finger"], "types": ["T190"], "canonical_name": "Absent middle phalanx of 4th finger", "definition": "Absence of the middle phalanx of the ring (4th) finger. [HPO:curators]"} {"concept_id": "C4021499", "aliases": ["Short outermost bone of ring finger", "Short distal phalanx of the fourth finger", "Hypoplastic/small distal phalanx of the 4th finger"], "types": ["T190"], "canonical_name": "Short distal phalanx of the 4th finger", "definition": "Hypoplastic/small distal phalanx of the fourth finger. [HPO:sdoelken]"} {"concept_id": "C4021500", "aliases": ["Abnormal innermost bone of ring finger", "Abnormality of the proximal phalanx of the ring finger"], "types": ["T190"], "canonical_name": "Abnormality of the proximal phalanx of the 4th finger"} {"concept_id": "C4021501", "aliases": ["Abnormal middle bone of ring finger", "Abnormality of the middle phalanx of the ring finger"], "types": ["T190"], "canonical_name": "Abnormality of the middle phalanx of the 4th finger"} {"concept_id": "C4021502", "aliases": ["Hypoplastic/small 4th finger", "Short ring finger"], "types": ["T019"], "canonical_name": "Short 4th finger", "definition": "Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger. [HPO:sdoelken]"} {"concept_id": "C4021503", "aliases": ["Camptodactyly of the 4th finger", "Camptodactyly of the ring finger", "4th finger camptodactyly"], "types": ["T190"], "canonical_name": "Contracture of the proximal interphalangeal joint of the 4th finger", "definition": "Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. [HPO:probinson]"} {"concept_id": "C4021504", "aliases": ["Joint contractures of the fourth finger"], "types": ["T033"], "canonical_name": "Joint contracture of the 4th finger", "definition": "Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected. [HPO:probinson]"} {"concept_id": "C4021505", "aliases": ["Triangular end part of the innermost bone of ring finger", "Delta-shaped epiphysis of the proximal phalanx of the 4th finger"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the proximal phalanx of the 4th finger", "definition": "A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]"} {"concept_id": "C4021506", "aliases": ["Bracket proximal epiphysis of the ring finger", "Bracket shaped end part of the innermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the proximal phalanx of the 4th finger", "definition": "An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4021507", "aliases": ["Delta-shaped epiphysis of the distal phalanx of the 4th finger", "Triangular end part of the outermost bone of ring finger"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the distal phalanx of the 4th finger", "definition": "A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]"} {"concept_id": "C4021508", "aliases": ["Broad innermost pinky finger bone", "Broad innermost little finger bone", "Broad innermost pinkie finger bone", "Wide proximal phalanx of the 5th finger"], "types": ["T190"], "canonical_name": "Broad proximal phalanx of the 5th finger", "definition": "Increased width of the proximal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4021509", "aliases": ["Short proximal phalanx of the fifth finger", "Short innermost little finger bone", "Short innermost pinky finger bone", "Short innermost pinkie finger bone", "Hypoplastic/small proximal phalanx of the 5th finger"], "types": ["T033"], "canonical_name": "Short proximal phalanx of the 5th finger", "definition": "Hypoplastic/small proximal phalanx of the fifth finger. [HPO:skoehler]"} {"concept_id": "C4021510", "aliases": ["Triangular end part of the middle bone of the ring finger", "Delta-shaped epiphysis of the middle phalanx of the 4th finger"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the middle phalanx of the 4th finger", "definition": "A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]"} {"concept_id": "C4021511", "aliases": ["Triangular end part of the middle bone of the little finger", "Triangular end part of the middle bone of the pinky finger", "Triangular end part of the middle bone of the pinkie finger", "Delta-shaped epiphysis of the middle phalanx of the 5th finger"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the middle phalanx of the 5th finger", "definition": "A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]"} {"concept_id": "C4021512", "aliases": ["Abnormality of end part of the outermost bone of the little finger", "Abnormality of end part of the outermost bone of the pinky finger", "Abnormality of end part of the outermost bone of the pinkie finger", "Abnormality of the epiphysis of the terminal phalanx of the little finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the distal phalanx of the 5th finger", "definition": "Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. [HPO:curators]"} {"concept_id": "C4021513", "aliases": ["Absent metacarpal ossification center", "Absent end part of the long bone of hand", "Absent metacarpal ossification centre"], "types": ["T190"], "canonical_name": "Absent metacarpal epiphyses", "definition": "Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals. [HPO:curators]"} {"concept_id": "C4021514", "aliases": ["Speckled calcifications in end part of the long bone of hand", "Stippling of the epiphyses of the metacarpals"], "types": ["T190"], "canonical_name": "Epiphyseal stippling of the metacarpals", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals. [HPO:probinson]"} {"concept_id": "C4021515", "aliases": ["Laterally displaced fifth finger", "Displaced pinkie finger", "Displaced pinky finger", "Displaced little finger"], "types": ["T033"], "canonical_name": "Deviation of the 5th finger", "definition": "Displacement of the 5th finger from its normal position. [HPO:sdoelken]"} {"concept_id": "C4021516", "aliases": ["Abnormality of the phalanges of the ring finger", "Abnormal bones of 4th finger"], "types": ["T190"], "canonical_name": "Abnormal 4th finger phalanx morphology", "definition": "Abnormality of the phalanges of the 4th (ring) finger. [HPO:curators]"} {"concept_id": "C4021517", "aliases": ["Broad middle bone of pinkie finger", "Broad middle bone of little finger", "Wide middle phalanx of the 5th finger", "Broad middle bone of pinky finger"], "types": ["T190"], "canonical_name": "Broad middle phalanx of the 5th finger", "definition": "Increased width of the middle phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4021518", "aliases": ["Triangular end part of the innermost bone of little finger", "Triangular end part of the innermost bone of pinky finger", "Delta-shaped epiphysis of the proximal phalanx of the 5th finger", "Triangular end part of the innermost bone of pinkie finger"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the proximal phalanx of the 5th finger", "definition": "A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]"} {"concept_id": "C4021519", "aliases": ["Delta-shaped epiphysis of the distal phalanx of the 5th finger", "Triangular end part of the outermost bone of little finger", "Triangular end part of the outermost bone of pinky finger", "Triangular end part of the outermost bone of pinkie finger"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the distal phalanx of the 5th finger", "definition": "A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]"} {"concept_id": "C4021520", "aliases": ["Abnormality of the cerebral arteries", "Abnormality of cerebral artery"], "types": ["T190"], "canonical_name": "Abnormal cerebral artery morphology", "definition": "Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. [HPO:probinson]"} {"concept_id": "C4021521", "aliases": ["Depletion of mitochondrial dna in skeletal muscle tissue"], "types": ["T033"], "canonical_name": "Depletion of mitochondrial DNA in muscle tissue"} {"concept_id": "C4021522", "aliases": ["Abnormality of bone mineral density involving tarsal bones"], "types": ["T190"], "canonical_name": "Abnormal tarsal bone mineral density", "definition": "This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. [HPO:probinson]"} {"concept_id": "C4021523", "aliases": ["Amyotrophy involving the upper limbs"], "types": ["T047"], "canonical_name": "Upper limb amyotrophy", "definition": "Muscular atrophy involving the muscles of the upper limbs. [HPO:probinson]"} {"concept_id": "C4021524", "aliases": ["Abnormality of fat tissue", "Abnormality of fatty tissue", "Abnormality of adipose tissue"], "types": ["T190"], "canonical_name": "Abnormal adipose tissue morphology", "definition": "An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. [HPO:curators]"} {"concept_id": "C4021525", "aliases": ["Abnormal ossification involving the bones of the pelvis"], "types": ["T190"], "canonical_name": "Abnormal pelvis bone ossification", "definition": "An abnormality of the formation and mineralization of any bone of the bony pelvis. [HPO:probinson]"} {"concept_id": "C4021526", "aliases": ["Rhabdomyolysis with exercise"], "types": ["T033"], "canonical_name": "Exercise-induced rhabdomyolysis", "definition": "Rhabdomyolysis induced by exercise. [HPO:probinson]"} {"concept_id": "C4021527", "aliases": ["Lax abdominal musculature"], "types": ["T033"], "canonical_name": "Abdominal wall muscle weakness", "definition": "Decreased strength of the abdominal musculature. [HPO:probinson]"} {"concept_id": "C4021528", "aliases": ["Hip girdle amyotrophy"], "types": ["T047"], "canonical_name": "Pelvic girdle amyotrophy", "definition": "Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle. [HPO:probinson]"} {"concept_id": "C4021529", "aliases": ["Absent/underdeveloped middle ear", "Middle ear hypoplasia/aplasia", "Hypoplastic/aplastic middle ear structures", "Absent/small middle ear"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the middle ear", "definition": "Aplasia or developmental hypoplasia of all or part of the middle ear. [HPO:probinson]"} {"concept_id": "C4021530", "aliases": ["Vocal impairment, severe, due to laryngeal cartilage abnormalities"], "types": ["T190"], "canonical_name": "Laryngeal cartilage malformation", "definition": "A malformation of the laryngeal cartilage. [HPO:probinson]"} {"concept_id": "C4021531", "aliases": ["Hypertrophic urinary bladder"], "types": ["T046"], "canonical_name": "Hypertrophy of the urinary bladder", "definition": "Abnormal enlargement of the urinary bladder. [HPO:probinson]"} {"concept_id": "C4021532", "aliases": ["Stapedial abnormalities"], "types": ["T190"], "canonical_name": "Abnormality of the stapes", "definition": "An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. [HPO:probinson]"} {"concept_id": "C4021533", "aliases": ["Severe sensorineural deafness", "Severe sensorineural hearing loss"], "types": ["T047"], "canonical_name": "Severe sensorineural hearing impairment", "definition": "A severe form of sensorineural hearing impairment. [HPO:probinson]"} {"concept_id": "C4021534", "aliases": ["Sensorineural deafness, late-onset", "Late sensorineural hearing loss"], "types": ["T047"], "canonical_name": "Adult onset sensorineural hearing impairment", "definition": "The presence of sensorineural deafness with late onset. [HPO:probinson]"} {"concept_id": "C4021535", "aliases": ["Infantile sensorineural hearing loss"], "types": ["T033"], "canonical_name": "Infantile sensorineural hearing impairment", "definition": "A form of sensorineural hearing impairment with infantile onset. [HPO:probinson]"} {"concept_id": "C4021536", "aliases": ["Conductive hearing loss, mild"], "types": ["T033"], "canonical_name": "Mild conductive hearing impairment", "definition": "A mild form of conductive hearing impairment. [HPO:probinson]"} {"concept_id": "C4021537", "aliases": ["Congenital conductive hearing loss", "Congenital conductive hearing impairment"], "types": ["T019"], "definition": "A type of conductive deafness with congenital onset. [HPO:probinson]", "canonical_name": "Congenital conductive deafness"} {"concept_id": "C4021538", "aliases": ["Mild neurosensory hearing loss"], "types": ["T047"], "canonical_name": "Mild neurosensory hearing impairment", "definition": "The presence of a mild form of sensorineural hearing impairment. [HPO:probinson]"} {"concept_id": "C4021539", "aliases": ["Helix, posterior pit", "Indentation in back of outer ear", "Ear, posterior helical groove", "Pits in posterior aspect of ear helices", "Ear, posterior helical notch"], "types": ["T033"], "canonical_name": "Posterior helix pit", "definition": "Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated. [PMID:19152421]"} {"concept_id": "C4021540", "aliases": ["Reduced sagittal diameter of vertebrae", "Reduced anterior-posterior diameter of vertebral bodies"], "types": ["T033"], "canonical_name": "Narrow anterio-posterior vertebral body diameter", "definition": "An abnormal reduction of the anterioposterior diameter of the vertebral body. [HPO:probinson]"} {"concept_id": "C4021541", "aliases": ["Anterior tongue-like protrusion of lumbar vertebral bodies"], "types": ["T190"], "canonical_name": "Anterior beaking of lumbar vertebrae", "definition": "Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. [HPO:probinson]"} {"concept_id": "C4021542", "aliases": ["Recurrent shedding of toenails and fingernails", "Recurrent loss of toenails and fingernails"], "types": ["T033"], "canonical_name": "Recurrent loss of toenails and fingernails", "definition": "Repeated loss, or shedding, of the nails of the fingers and toes. [DDD:cmoss]"} {"concept_id": "C4021543", "aliases": ["Abnormal maturation of long bone of foot", "Abnormal ossification involving metatarsal bones"], "types": ["T033"], "canonical_name": "Abnormal metatarsal ossification", "definition": "Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years. [HPO:probinson]"} {"concept_id": "C4021544", "aliases": ["Abnormal ossification of tarsal bones", "Hardening of ankle bones"], "types": ["T190"], "canonical_name": "Abnormal tarsal ossification", "definition": "An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. [HPO:probinson]"} {"concept_id": "C4021545", "aliases": ["Reduced IgG2 levels", "Decreased IgG2 level in blood", "Immunoglobulin IgG2 deficiency"], "types": ["T033"], "canonical_name": "Decreased circulating IgG2 level", "definition": "A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation. [HPO:probinson]"} {"concept_id": "C4021546", "aliases": ["Abnormal mitochondria in muscle"], "types": ["T190"], "canonical_name": "Abnormal mitochondria in muscle tissue", "definition": "An abnormality of the mitochondria in muscle tissue. [HPO:probinson]"} {"concept_id": "C4021547", "aliases": [], "types": ["T033"], "canonical_name": "Neutrophil inclusion bodies", "definition": "The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies. [HPO:probinson]"} {"concept_id": "C4021548", "aliases": ["ACTH receptor defect", "ACTHR defect", "Adrenocorticotropin receptor defect"], "types": ["T033"], "definition": "Adrenal insufficiency secondary to a defect in the ACTH receptor. [DDD:spark]", "canonical_name": "Adrenocorticotropic hormone-resistant adrenal insufficiency"} {"concept_id": "C4021549", "aliases": ["Euthyroid hyperthyroxinemia"], "types": ["T047"], "definition": "An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease. [eMedicine:118562, HPO:probinson]", "canonical_name": "Asymptomatic hyperthyroxinemia"} {"concept_id": "C4021550", "aliases": ["Elevated follicle-stimulating hormone", "Elevated follicle stimulating hormone", "Elevated plasma follicle stimulating hormone", "Increased circulating follicle stimulating hormone level", "Elevated FSH level"], "types": ["T033"], "canonical_name": "Elevated circulating follicle stimulating hormone level", "definition": "An elevated concentration of follicle-stimulating hormone in the blood. [HPO:probinson]"} {"concept_id": "C4021551", "aliases": ["No secondary sexual characteristics at puberty"], "types": ["T033"], "canonical_name": "Absence of secondary sex characteristics", "definition": "No secondary sexual characteristics are present at puberty. [HPO:probinson]"} {"concept_id": "C4021552", "aliases": ["Hyperammonemia, asymptomatic"], "types": ["T033"], "canonical_name": "Asymptomatic hyperammonemia", "definition": "An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. [HPO:probinson]"} {"concept_id": "C4021553", "aliases": ["Hypokalemic periodic paresis"], "types": ["T047"], "canonical_name": "Periodic hypokalemic paresis", "definition": "Episodes of muscle weakness associated with reduced levels of potassium in the blood. [HPO:probinson]"} {"concept_id": "C4021554", "aliases": ["Irregular tarsal centres", "Irregular tarsal centers"], "types": ["T033"], "canonical_name": "Irregular tarsal ossification", "definition": "Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. [HPO:probinson]"} {"concept_id": "C4021555", "aliases": ["3rd toe clinodactyly"], "types": ["T190"], "canonical_name": "Clinodactyly of the 3rd toe", "definition": "Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe). [HPO:probinson]"} {"concept_id": "C4021556", "aliases": ["Osteolysis of tali"], "types": ["T047"], "canonical_name": "Osteolysis of talus", "definition": "Osteolysis affecting the talus. [HPO:sdoelken]"} {"concept_id": "C4021558", "aliases": ["High flash visual evoked potentials"], "types": ["T033"], "canonical_name": "Enlarged flash visual evoked potentials"} {"concept_id": "C4021559", "aliases": ["Central retinitis pigmentosa"], "types": ["T047"], "canonical_name": "Retinitis pigmentosa inversa", "definition": "Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery). [ORCID:0000-0003-0986-4123, PMID:9734800]"} {"concept_id": "C4021560", "aliases": ["Posterior Y-sutural cataracts"], "types": ["T046"], "canonical_name": "Posterior Y-sutural cataract", "definition": "A type of sutural cataract in which the opacity follows the posterior Y suture. [HPO:probinson]"} {"concept_id": "C4021561", "aliases": ["Electronegative ERG", "Reduced amplitude of dark-adapted bright flash electroretinogram b-wave", "Reduced ERG amplitude of b-wave", "Electroretinogram: reduced b-wave amplitude", "Reduced electroretinogram rod b-wave"], "types": ["T033"], "canonical_name": "Electronegative electroretinogram", "definition": "A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3). [HPO:probinson]"} {"concept_id": "C4021563", "aliases": ["Congenital retinal non-attachment"], "types": ["T019"], "canonical_name": "Retinal nonattachment", "definition": "Failure of attachment of the retina during development. [HPO:probinson, PMID:21441919]"} {"concept_id": "C4021564", "aliases": ["Hypoplasia of the lacrimal puncta", "Hypoplastic lacrimal puncta"], "types": ["T190"], "canonical_name": "Hypoplasia of the lacrimal punctum", "definition": "Underdevelopment of the lacrimal puncta. [HPO:probinson]"} {"concept_id": "C4021565", "aliases": ["Punctate corneal opacities"], "types": ["T033"], "canonical_name": "Punctate opacification of the cornea", "definition": "Punctate opacification (reduced transparency) of the corneal stroma. [DDD:gblack]"} {"concept_id": "C4021566", "aliases": ["Cataract, progressive"], "types": ["T047"], "canonical_name": "Progressive cataract", "definition": "A kind of cataract that progresses with age. [HPO:probinson]"} {"concept_id": "C4021567", "aliases": ["Ring iris heterochromia"], "types": ["T184"], "canonical_name": "Central heterochromia", "definition": "The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone. [HPO:probinson]"} {"concept_id": "C4021568", "aliases": ["Cataracts, cortical pulverulent"], "types": ["T047"], "canonical_name": "Cortical pulverulent cataract", "definition": "A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens. [HPO:probinson]"} {"concept_id": "C4021569", "aliases": ["Tortuosity of main retinal vessels"], "types": ["T033"], "canonical_name": "Central retinal vessel vascular tortuosity", "definition": "The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules). [HPO:probinson]"} {"concept_id": "C4021570", "aliases": ["Absent rod-and cone-mediated responses on ERG", "Absent cone and rod functions by electroretinogram"], "types": ["T033"], "canonical_name": "Undetectable light- and dark-adapted electroretinogram", "definition": "Absence of the combined rod-and-cone response on electroretinogram. [HPO:probinson]"} {"concept_id": "C4021571", "aliases": ["Abnormal vestibuloocular reflex"], "types": ["T190"], "canonical_name": "Abnormal vestibulo-ocular reflex", "definition": "An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude. [HPO:probinson, PMID:3625219]"} {"concept_id": "C4021572", "aliases": ["Redundant, wrinkled skin of palms"], "types": ["T190"], "canonical_name": "Excessive wrinkling of palmar skin"} {"concept_id": "C4021573", "aliases": ["Patchy hypo- and hyper-pigmentation"], "types": ["T047"], "canonical_name": "Patchy hypo- and hyperpigmentation"} {"concept_id": "C4021574", "aliases": ["Decreased sweat glands", "Decreased sweat pores"], "types": ["T033"], "canonical_name": "Decreased number of sweat glands", "definition": "The presence of fewer than normal sweat glands. [HPO:probinson]"} {"concept_id": "C4021576", "aliases": ["Postnatal-onset ichthyosis"], "types": ["T047"], "canonical_name": "Postnatal-onset ichthyosiform erythroderma", "definition": "A type of ichthyosiform erythroderma with postnatal onset. [HPO:probinson]"} {"concept_id": "C4021577", "aliases": ["Abnormality of SSEPs"], "types": ["T190"], "canonical_name": "Abnormality of somatosensory evoked potentials", "definition": "An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. [HPO:curators]"} {"concept_id": "C4021578", "aliases": ["Chronic sural axonal neuropathy"], "types": ["T047"], "canonical_name": "Chronic axonal neuropathy", "definition": "An abnormality characterized by chronic impairment of the normal functioning of the axons. [HPO:probinson]"} {"concept_id": "C4021579", "aliases": ["Cerebral calcification, nonarteriosclerotic"], "types": ["T047"], "canonical_name": "Nonarteriosclerotic cerebral calcification"} {"concept_id": "C4021580", "aliases": ["Progressive extrapyramidal rigidity"], "types": ["T033"], "canonical_name": "Progressive extrapyramidal muscular rigidity", "definition": "A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). [HPO:probinson]"} {"concept_id": "C4021581", "aliases": ["Distal upper limb muscle atrophy"], "types": ["T047"], "canonical_name": "Distal upper limb amyotrophy", "definition": "Muscular atrophy of distal arm muscles. [HPO:probinson]"} {"concept_id": "C4021582", "aliases": ["Peripheral sensory neuropathy, distal"], "types": ["T047"], "canonical_name": "Distal peripheral sensory neuropathy", "definition": "Peripheral sensory neuropathy affecting primarily distal sensation. [HPO:probinson]"} {"concept_id": "C4021583", "aliases": ["Decreased touch sensation in extremities", "Decreased distal touch sense"], "types": ["T033"], "canonical_name": "Impaired distal tactile sensation", "definition": "A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. [HPO:probinson]"} {"concept_id": "C4021584", "aliases": ["Cerebral atrophy, frontotemporal"], "types": ["T047"], "canonical_name": "Frontotemporal cerebral atrophy", "definition": "Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. [HPO:probinson]"} {"concept_id": "C4021585", "aliases": ["Distal sensory loss of proprioception"], "types": ["T033"], "canonical_name": "Impaired distal proprioception", "definition": "A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints. [HPO:probinson]"} {"concept_id": "C4021587", "aliases": ["Costochondral junction pain"], "types": ["T033"], "canonical_name": "Costochondral pain", "definition": "Chest wall pain in the area of the costochondral junctions. [HPO:probinson]"} {"concept_id": "C4021588", "aliases": ["Sclerotic costochondral joints"], "types": ["T033"], "canonical_name": "Costochondral joint sclerosis", "definition": "Abnormal increase in density of the tissue at the costochondral junctions. [HPO:probinson]"} {"concept_id": "C4021589", "aliases": ["Aplasia of the glenoid fossa"], "types": ["T033"], "canonical_name": "Absent glenoid fossa", "definition": "Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. [HPO:probinson]"} {"concept_id": "C4021590", "aliases": ["Prematurely closed sternal sutures"], "types": ["T190"], "canonical_name": "Premature sternal synostosis", "definition": "Prematurely closed sternal sutures. [HPO:probinson, PMID:13542801]"} {"concept_id": "C4021591", "aliases": ["Hepatic ductopenia"], "types": ["T033"], "canonical_name": "Reduced number of intrahepatic bile ducts", "definition": "The presence of reduced numbers of intrahepatic bile duct than normal. [HPO:probinson]"} {"concept_id": "C4021592", "aliases": ["Primary pulmonary dysgenesis, unilateral"], "types": ["T047"], "canonical_name": "Unilateral primary pulmonary dysgenesis"} {"concept_id": "C4021593", "aliases": ["Abnormal shape of end part of limb bones", "Abnormality involving the epiphyses of the limbs"], "types": ["T190"], "canonical_name": "Abnormality of limb epiphysis morphology", "definition": "An anomaly of one or more epiphyses of a limb. []"} {"concept_id": "C4021595", "aliases": ["Abnormality involving the epiphyses of the lower limbs", "Abnormal shape of end part of lower limb end bone"], "types": ["T190"], "canonical_name": "Abnormality of lower limb epiphysis morphology", "definition": "An anomaly of one or more epiphyses of one or both legs. []"} {"concept_id": "C4021596", "aliases": ["Abnormality of milk teeth", "Abnormality of baby teeth", "Abnormality of deciduous teeth"], "types": ["T190"], "canonical_name": "Abnormality of primary teeth", "definition": "Any abnormality of the primary tooth. [HPO:ibailleulforestier]"} {"concept_id": "C4021597", "aliases": ["Delayed patellae ossification"], "types": ["T033"], "canonical_name": "Delayed patellar ossification", "definition": "Formation of bone in the patella later than normal. [HPO:probinson, PMID:6729496]"} {"concept_id": "C4021598", "aliases": ["Bowing of the distal tibia", "Tibial bowing at ankle"], "types": ["T190"], "canonical_name": "Distal tibial bowing", "definition": "A bending or abnormal curvature of the distal portion of the tibia. [HPO:probinson]"} {"concept_id": "C4021599", "aliases": ["Flattened distal femoral epiphyses", "Flat end part of outermost thighbone"], "types": ["T190"], "canonical_name": "Flat distal femoral epiphysis", "definition": "An abnormal flattening of the distal epiphysis of femur. [HPO:sdoelken]"} {"concept_id": "C4021600", "aliases": ["Distal ulnar epiphyseal calcifications"], "types": ["T033"], "canonical_name": "Distal ulnar epiphyseal stippling", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna. [HPO:probinson]"} {"concept_id": "C4021601", "aliases": ["Precocious eruption of secondary teeth", "Premature eruption of adult teeth", "Early eruption of adult teeth", "Early eruption of permanent teeth", "Precocious eruption of secondary dentition"], "types": ["T033"], "canonical_name": "Premature eruption of permanent teeth", "definition": "Premature tooth eruption of the permanent dentition. [HPO:ibailleulforestier]"} {"concept_id": "C4021602", "aliases": ["Crowded upper incisors", "Overlapped upper front teeth", "Overlapped maxillary incisors", "Crowded upper front teeth"], "types": ["T190"], "canonical_name": "Crowded maxillary incisors", "definition": "A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor. [HPO:ibailleulforestier]"} {"concept_id": "C4021603", "aliases": ["Widely spaced milk teeth", "Widely spaced deciduous teeth", "Wide gaps between baby teeth", "Widely spaced baby teeth", "Generalised spacing of primary teeth", "Generalized spacing of primary teeth", "Wide gaps between primary teeth"], "types": ["T033"], "canonical_name": "Widely spaced primary teeth", "definition": "Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. [HPO:ibailleulforestier]"} {"concept_id": "C4021604", "aliases": ["Abnormality of phalangeal joints of the hand", "Abnormality of the small joints of the hand"], "types": ["T190"], "canonical_name": "Abnormal phalangeal joint morphology of the hand"} {"concept_id": "C4021605", "aliases": ["Shortening of all the middle bones of the toes", "Brachymesophalangy of feet"], "types": ["T190"], "canonical_name": "Shortening of all middle phalanges of the toes", "definition": "Abnormal shortening of all middle phalanges of toes. [HPO:probinson]"} {"concept_id": "C4021606", "aliases": ["Interdigital finger polydactyly", "Central hand polydactyly"], "types": ["T190"], "canonical_name": "Mesoaxial hand polydactyly", "definition": "The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. [HPO:probinson]"} {"concept_id": "C4021607", "aliases": ["Proximal interphalangeal joint synostoses", "Fused innermost hinge joints"], "types": ["T190"], "canonical_name": "Proximal symphalangism of hands", "definition": "The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. [HPO:sdoelken]"} {"concept_id": "C4021608", "aliases": ["Brachytelephalangy", "Shortening of all outermost bones of the fingers"], "types": ["T033"], "canonical_name": "Shortening of all distal phalanges of the fingers", "definition": "Hypoplasia of all of the distal phalanx of finger. [HPO:probinson]"} {"concept_id": "C4021609", "aliases": ["Delayed bone maturation of end part of digital bone", "Delayed phalangeal epiphyseal bone maturation"], "types": ["T033"], "canonical_name": "Delayed phalangeal epiphyseal ossification", "definition": "Delay in the process of formation and maturation of the epiphysis of one or more phalanx. [HPO:probinson]"} {"concept_id": "C4021610", "aliases": ["Bilateral lung agenesis", "Bilateral pulmonary agenesis"], "types": ["T019"], "definition": "Bilateral lack of development of the lungs. [HPO:probinson]", "canonical_name": "Absent lungs"} {"concept_id": "C4021611", "aliases": ["Abnormal shape of end part of bone", "Abnormality of the epiphyses", "Anomaly of the epiphyses", "Epiphyseal abnormality"], "types": ["T190"], "canonical_name": "Abnormality of epiphysis morphology", "definition": "An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. [HPO:probinson]"} {"concept_id": "C4021612", "aliases": ["Absent/underdeveloped hand bones", "Hypoplasia/absence of hand bones", "Absent/small hand bones"], "types": ["T190"], "canonical_name": "Aplasia/hypoplasia involving bones of the hand", "definition": "Absence (due to failure to form) or underdevelopment of the bones of the hand. [HPO:probinson]"} {"concept_id": "C4021613", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal epiphysis morphology of the phalanges of the hand", "definition": "Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). [HPO:curators]"} {"concept_id": "C4021614", "aliases": ["Abnormality of phalanx of finger", "Abnormality of the phalanges of the hand", "Abnormality of the phalanges", "Abnormal form of phalanges of the hand", "Abnormality of the finger bones"], "types": ["T190"], "canonical_name": "Abnormal finger phalanx morphology", "definition": "Abnormalities affecting the phalanx of finger. [HPO:probinson]"} {"concept_id": "C4021615", "aliases": ["Abnormal shape of metacarpal bones", "Abnormal shape of long bones of hand"], "types": ["T190"], "canonical_name": "Abnormal metacarpal morphology", "definition": "Irregularly shaped metacarpal bones of varying degree. [HPO:curators]"} {"concept_id": "C4021616", "aliases": ["Rhomboid or triangular shaped fifth finger middle phalanx"], "types": ["T190"], "canonical_name": "Rhomboid or triangular shaped 5th finger middle phalanx", "definition": "Rhomboid or triangular shaped 5th (little) finger middle phalanx. [HPO:curators]"} {"concept_id": "C4021617", "aliases": ["Mastoid processes poorly pneumatized"], "types": ["T033"], "canonical_name": "Delayed pneumatization of the mastoid process", "definition": "An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. [HPO:probinson]"} {"concept_id": "C4021618", "aliases": ["Polysyndactyly of great toe", "Polysyndactyly of big toe"], "types": ["T019"], "canonical_name": "Polysyndactyly of hallux", "definition": "Combined syndactyly and polydactyly of the great toe. [HPO:probinson]"} {"concept_id": "C4021619", "aliases": ["Ulnar dislocation of radial heads"], "types": ["T037"], "canonical_name": "Ulnar radial head dislocation", "definition": "A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction. [HPO:probinson]"} {"concept_id": "C4021620", "aliases": ["Clinodactyly of second toes"], "types": ["T190"], "canonical_name": "Clinodactyly of the 2nd toe", "definition": "Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe). [HPO:probinson]"} {"concept_id": "C4021621", "aliases": ["No fourth finger distal interphalangeal crease"], "types": ["T190"], "canonical_name": "Absent fourth finger distal interphalangeal crease", "definition": "Absence of the distal interphalangeal flexion creases of the fourth finger. [HPO:probinson]"} {"concept_id": "C4021622", "aliases": ["Soft tissue syndactyly of toes 2, 3, and 4", "Webbed second, third and fourth toes", "Webbed 2nd, 3rd and 4th toes"], "types": ["T190"], "canonical_name": "2-4 toe cutaneous syndactyly", "definition": "A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4. [HPO:probinson]"} {"concept_id": "C4021623", "aliases": ["Speckled calcifications in bone end parts in neonates", "Epiphyseal stippling in neonates"], "types": ["T033"], "canonical_name": "Neonatal epiphyseal stippling", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. [HPO:probinson]"} {"concept_id": "C4021624", "aliases": ["Osteosclerosis of the skull base"], "types": ["T033"], "canonical_name": "Osteosclerosis of the base of the skull", "definition": "An increase in bone density affecting the basicranium (base of the skull). [HPO:probinson]"} {"concept_id": "C4021625", "aliases": ["Spinal stenosis due to short pedicles"], "types": ["T033"], "canonical_name": "Spinal stenosis with reduced interpedicular distance", "definition": "An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging). [HPO:probinson]"} {"concept_id": "C4021626", "aliases": ["Lethal dwarfism identifiable at birth"], "types": ["T190"], "canonical_name": "Lethal skeletal dysplasia"} {"concept_id": "C4021627", "aliases": ["Bilateral digitalized thumb"], "types": ["T019"], "definition": "A bilateral form of triphalangeal thumb. [HPO:probinson]", "canonical_name": "Bilateral triphalangeal thumbs"} {"concept_id": "C4021628", "aliases": ["Brachydactyly of third toes", "Short 3rd toe", "Short third toe"], "types": ["T190"], "canonical_name": "Short 3rd toe", "definition": "Underdevelopment (hypoplasia) of the third toe. [HPO:probinson]"} {"concept_id": "C4021629", "aliases": ["Absent bone maturation of skullcap", "Absent ossification of skull vault"], "types": ["T190"], "canonical_name": "Absent ossification of calvaria", "definition": "Absent ossification of the calvaria (vault of the skull). [HPO:probinson]"} {"concept_id": "C4021630", "aliases": ["Widened long bones", "Broad long bones", "Wide long bones"], "types": ["T033"], "canonical_name": "Broad long bones", "definition": "Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. [HPO:probinson]"} {"concept_id": "C4021631", "aliases": ["Tracheobronchial anomalies"], "types": ["T190"], "canonical_name": "Abnormal tracheobronchial morphology"} {"concept_id": "C4021632", "aliases": ["Butterfly facial telangiectasia"], "types": ["T033"], "canonical_name": "Facial telangiectasia in butterfly midface distribution", "definition": "Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution. [HPO:curators]"} {"concept_id": "C4021633", "aliases": ["Patchy palmoplantar keratoderma", "Palmoplantar keratoderma, patchy"], "types": ["T047"], "canonical_name": "Patchy palmoplantar hyperkeratosis", "definition": "A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected. [HPO:probinson]"} {"concept_id": "C4021634", "aliases": ["Anomaly of the bone marrow cells"], "types": ["T190"], "canonical_name": "Abnormality of bone marrow cell morphology", "definition": "An anomaly of the form or number of cells in the bone marrow. [DDD:wouwehand, HPO:probinson]"} {"concept_id": "C4021635", "aliases": ["RBC keratocytosis", "Distorted red blood cells resembling keratocytes"], "types": ["T033"], "canonical_name": "Red blood cell keratocytosis", "definition": "A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns. [HPO:probinson]"} {"concept_id": "C4021636", "aliases": ["Decreased serum factor b"], "types": ["T033"], "canonical_name": "Decreased serum complement factor B", "definition": "A reduced level of the complement component factor B in circulation. [https://emedicine.medscape.com/article/135478-overview]"} {"concept_id": "C4021637", "aliases": ["Deformity of the nostrils", "Deformity of the nares", "Malformation of the nares", "Anomaly of the nares", "Malformation of the nostrils", "Abnormality of the nostrils"], "types": ["T190"], "canonical_name": "Abnormality of the nares", "definition": "Abnormality of the nostril. [HPO:curators]"} {"concept_id": "C4021638", "aliases": ["Ageneis of nasal septal cartilage", "Absent nasal septum", "Absent nasal septal cartilage"], "types": ["T190"], "canonical_name": "Absent nasal septal cartilage", "definition": "Lack of the cartilage of the nasal septum. [HPO:probinson]"} {"concept_id": "C4021639", "aliases": ["Unilateral aplasia of pectoralis major muscle"], "types": ["T033"], "canonical_name": "Unilateral absence of pectoralis major muscle", "definition": "Aplasia (congenital absence) of the pectoralis minor on only one side of the chest. [HPO:probinson]"} {"concept_id": "C4021640", "aliases": ["Hypoplastic intestines", "Underdeveloped instestine"], "types": ["T033"], "canonical_name": "Intestinal hypoplasia", "definition": "Developmental hypoplasia of the intestine. [HPO:probinson]"} {"concept_id": "C4021641", "aliases": ["Intrinsic factor absent from gastric juice"], "types": ["T033"], "canonical_name": "Absence of intrinsic factor", "definition": "Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. [HPO:probinson]"} {"concept_id": "C4021642", "aliases": ["Abnormality of the calcaneal tendon", "Abnormality of the Achilles tendon"], "types": ["T190"], "canonical_name": "Abnormality of the Achilles tendon", "definition": "An abnormality of the Achilles tendon. [HPO:probinson]"} {"concept_id": "C4021643", "aliases": ["Impaired galactose metabolism"], "types": ["T033"], "canonical_name": "Impairment of galactose metabolism", "definition": "An impairment of galactose metabolism. [HPO:probinson]"} {"concept_id": "C4021644", "aliases": ["Recurrent low blood sugar in infant", "Episodic infantile hypoglycemia"], "types": ["T047"], "canonical_name": "Recurrent infantile hypoglycemia", "definition": "Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period. [HPO:probinson]"} {"concept_id": "C4021645", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent abdominal hernia"} {"concept_id": "C4021646", "aliases": ["Protracted bleeding after surgery", "Excessive bleeding during surgery", "Prolonged bleeding after surgery"], "types": ["T046"], "canonical_name": "Prolonged bleeding after surgery", "definition": "Bleeding that persists longer than the normal time following a surgical procedure. [HPO:probinson]"} {"concept_id": "C4021647", "aliases": ["Increased haemoglobin oxygen affinity", "Increased Hb oxygen affinity", "Increased haemoglobin O2 affinity", "Increased hemoglobin O2 affinity", "Increased Hb O2 affinity"], "types": ["T033"], "canonical_name": "Increased hemoglobin oxygen affinity", "definition": "An abnormal increase in the binding affinity of hemoglobin for oxygen. [HPO:probinson]"} {"concept_id": "C4021648", "aliases": ["Hemolytic anaemia following ingestion of fava beans", "Fava bean-induced hemolytic anaemia", "Hemolytic anemia following ingestion of fava beans"], "types": ["T047"], "canonical_name": "Fava bean-induced hemolytic anemia", "definition": "A kind of hemolytic anemia that is induced by the ingestion of fava beans. [HPO:probinson]"} {"concept_id": "C4021649", "aliases": ["Hypoplasia of the fifth metatarsal bone", "Short 5th long bone of foot"], "types": ["T190"], "canonical_name": "Short fifth metatarsal", "definition": "Short (hypoplastic) fifth metatarsal bone. [HPO:probinson]"} {"concept_id": "C4021650", "aliases": ["Short 3rd long bone of foot", "Hypoplasia of the 3rd metatarsal bone"], "types": ["T190"], "canonical_name": "Short third metatarsal", "definition": "Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone. [HPO:probinson]"} {"concept_id": "C4021651", "aliases": ["Deficiency of nasal bone", "Underdevelopment of nasal bone", "Hypotrophic nasal bone", "Small nasal bone", "Decreased size of nasal bone", "Nasal bone hypoplasia"], "types": ["T033"], "canonical_name": "Hypoplasia of the nasal bone", "definition": "Underdevelopment of the nasal bone. [HPO:probinson]"} {"concept_id": "C4021652", "aliases": ["Wedge-shaped 11th thoracic vertebra", "Anterior wedging of the 11th thoracic vertebra"], "types": ["T190"], "canonical_name": "Anterior wedging of T11", "definition": "An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front). [HPO:probinson]"} {"concept_id": "C4021653", "aliases": ["Generalised hypotrichosis", "Hypotrichosis, generalised", "Hypotrichosis, generalized"], "types": ["T047"], "canonical_name": "Generalized hypotrichosis", "definition": "Reduced or lacking hair growth in a generalized distribution. [HPO:probinson]"} {"concept_id": "C4021654", "aliases": ["Premature atherosclerosis"], "types": ["T046"], "canonical_name": "Precocious atherosclerosis"} {"concept_id": "C4021655", "aliases": ["Abnormal sense of smell", "Abnormality of the sense of smell", "Smell defect", "Abnormality of olfaction"], "types": ["T033"], "canonical_name": "Abnormality of the sense of smell", "definition": "An anomaly in the ability to perceive and distinguish scents (odors). []"} {"concept_id": "C4021656", "aliases": ["Abnormality of fatty acid metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating fatty-acid concentration", "definition": "A deviation from the normal concentration of a fatty acid in the blood circulation. [HPO:probinson]"} {"concept_id": "C4021657", "aliases": ["Abnormality of bone mineralisation and ossification"], "types": ["T190"], "canonical_name": "Abnormality of bone mineral density", "definition": "This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. [HPO:probinson]"} {"concept_id": "C4021658", "aliases": ["Abnormality of the vitamin B12 metabolism"], "types": ["T033"], "canonical_name": "Abnormality of vitamin B12 metabolism"} {"concept_id": "C4021659", "aliases": ["Abnormality of B-vitamin metabolism"], "types": ["T033"], "canonical_name": "Abnormality of vitamin B metabolism"} {"concept_id": "C4021660", "aliases": ["Abnormal circulating sulphur amino acid concentration", "Abnormality of sulfur-containing amino acids"], "types": ["T033"], "canonical_name": "Abnormal circulating sulfur amino acid concentration", "definition": "Any deviation from the normal concentration of a sulfur amino acid in the blood circulation. [HPO:gcarletti]"} {"concept_id": "C4021661", "aliases": ["Abnormality of histiocytes", "Abnormality of macrophages"], "types": ["T033"], "canonical_name": "Abnormal macrophage morphology", "definition": "An abnormality of macrophages. [HPO:probinson]"} {"concept_id": "C4021662", "aliases": ["Abnormality of the endomycoardium", "Abnormality of the endocardium"], "types": ["T190"], "canonical_name": "Abnormal endocardium morphology", "definition": "An abnormality of the endocardium. [HPO:probinson]"} {"concept_id": "C4021663", "aliases": ["Abnormal muscle fibre morphology", "Abnormal skeletal muscle fibre morphology", "Abnormality of muscle fibres", "Abnormality of muscle fibers", "Abnormal skeletal muscle fiber morphology"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber morphology", "definition": "Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. [HPO:probinson, PMID:22938878]"} {"concept_id": "C4021664", "aliases": ["Abnormality of the abdominal wall", "Abnormality of external features of the abdomen"], "types": ["T190"], "canonical_name": "Abnormality of the abdominal wall", "definition": "The presence of any abnormality affecting the abdominal wall. [HPO:probinson]"} {"concept_id": "C4021665", "aliases": ["Fusion of second metacarpal-trapezoid"], "types": ["T190"], "canonical_name": "Synostosis of second metacarpal-trapezoid", "definition": "Fusion of the second metacarpal-trapezoid. [HPO:probinson]"} {"concept_id": "C4021666", "aliases": ["Decreased carpal joint angles"], "types": ["T190"], "canonical_name": "Narrow carpal joint spaces"} {"concept_id": "C4021667", "aliases": ["Broad hamate bone", "Wide unciform bone"], "types": ["T190"], "canonical_name": "Wide hamate bone"} {"concept_id": "C4021668", "aliases": ["Delayed maturation of the trapezoid bone"], "types": ["T033"], "canonical_name": "Delayed ossification of the trapezoid bone", "definition": "Formation of bone tissue of trapezoid is less than expected for age. [HPO:probinson]"} {"concept_id": "C4021669", "aliases": ["Delayed maturation of the trapezium"], "types": ["T033"], "canonical_name": "Delayed ossification of the trapezium", "definition": "Formation of bone tissue of trapezium is less than expected for age. [HPO:probinson]"} {"concept_id": "C4021670", "aliases": ["Delayed maturation of the scaphoid"], "types": ["T033"], "canonical_name": "Delayed ossification of the scaphoid", "definition": "Formation of bone tissue of scaphoid is less than expected for age. [HPO:sdoelken]"} {"concept_id": "C4021671", "aliases": ["Large carpals", "Large wrist bones"], "types": ["T033"], "canonical_name": "Large carpal bones", "definition": "Increased size of carpal bones. [HPO:probinson]"} {"concept_id": "C4021672", "aliases": ["Curved outermost pinkie finger bone", "Curved outermost pinky finger bone", "Curved terminal phalanx of the little finger", "Curved outermost little finger bone"], "types": ["T190"], "canonical_name": "Curved distal phalanx of the 5th finger", "definition": "Curved appearance of the distal phalanx of the 5th (little) finger. [HPO:curators]"} {"concept_id": "C4021673", "aliases": ["Abnormality of the outermost little finger bone", "Abnormality of the distal phalanx of the little finger", "Abnormality of the outermost pinkie finger bone", "Abnormality of the terminal phalanx of the little finger", "Abnormality of the outermost pinky finger bone"], "types": ["T190"], "canonical_name": "Abnormality of the distal phalanx of the 5th finger", "definition": "Abnormality of the distal phalanx of the 5th (little) finger. [HPO:curators]"} {"concept_id": "C4021674", "aliases": ["Ivory epiphysis of the terminal phalanx of the little finger", "Increased bone density of end part of the outermost pinky finger bone", "Increased bone density of end part of the outermost pinkie finger bone", "Increased bone density of end part of the outermost little finger bone", "Ivory epiphysis of the distal phalanx of the little finger"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the distal phalanx of the 5th finger", "definition": "Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4021675", "aliases": ["Cone-shaped end part of the outermost pinky finger bone", "Cone-shaped end part of the outermost pinkie finger bone", "Cone-shaped end part of the outermost little finger bone", "Cone-shaped epiphysis of the distal phalanx of the little finger"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the distal phalanx of the 5th finger", "definition": "A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]"} {"concept_id": "C4021676", "aliases": ["Fifth finger symphalangism", "Symphalagism of the little finger", "Fused pinkie finger bones", "Fused little finger bones", "Fused pinky finger bones"], "types": ["T190"], "canonical_name": "Symphalangism of the 5th finger", "definition": "Fusion of two or more bones of the 5th finger. [HPO:curators]"} {"concept_id": "C4021677", "aliases": ["Lytic defects of the phalanges of the little finger"], "types": ["T190"], "canonical_name": "Osteolytic defects of the phalanges of the 5th finger", "definition": "Dissolution or degeneration of bone tissue of the phalanges of the 5th finger. [HPO:curators]"} {"concept_id": "C4021678", "aliases": ["Abnormality of the 5th finger", "Abnormality of the little finger", "Abnormality of the pinkie finger", "Abnormality of the pinky finger"], "types": ["T190"], "canonical_name": "Abnormal 5th finger morphology", "definition": "An abnormality affecting one or both 5th fingers. [HPO:sdoelken]"} {"concept_id": "C4021679", "aliases": ["Fused ring finger bones", "Symphalangism of the ring finger"], "types": ["T019"], "canonical_name": "Symphalangism of the 4th finger", "definition": "Fusion of two or more bones of the 4th finger. [HPO:curators]"} {"concept_id": "C4021680", "aliases": ["Abnormality of the ring finger", "Abnormality of the 4th finger"], "types": ["T190"], "canonical_name": "Abnormal 4th finger morphology"} {"concept_id": "C4021681", "aliases": ["Short terminal phalanx of middle finger", "Short outermost bone of the middle finger", "Short distal phalanx of the third finger", "Hypoplastic/small distal phalanx of the 3rd finger"], "types": ["T190"], "canonical_name": "Short distal phalanx of the 3rd finger", "definition": "Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger. [HPO:sdoelken]"} {"concept_id": "C4021682", "aliases": ["Abnormality of the 3rd finger", "Abnormality of the middle finger"], "types": ["T190"], "canonical_name": "Abnormal 3rd finger morphology", "definition": "An anomaly of the third finger. [HPO:probinson]"} {"concept_id": "C4021683", "aliases": ["Abnormality of the 2nd finger", "Abnormality of index finger"], "types": ["T190"], "canonical_name": "Abnormal 2nd finger morphology", "definition": "An anomaly of the second finger, also known as the index finger. [HPO:probinson]"} {"concept_id": "C4021684", "aliases": ["Increased bone density in hand bones", "Increased bone density in hand bone", "Hand bone sclerosis", "Generalised sclerosis of hand bones", "Generalized sclerosis of hand bones"], "types": ["T047"], "canonical_name": "Sclerosis of hand bone", "definition": "Osteosclerosis affecting one or more bones of the hand. [HPO:probinson]"} {"concept_id": "C4021685", "aliases": ["Disharmonic maturation of the hand bones", "Dysharmonic ossification of the hand bones"], "types": ["T046"], "canonical_name": "Dysharmonic maturation of the hand bones", "definition": "Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand. [HPO:probinson]"} {"concept_id": "C4021686", "aliases": ["Delay maturation/delayed ossification of the hand"], "types": ["T033"], "canonical_name": "Delayed ossification of the hand bones", "definition": "Ossification of hand bones is less advanced than would be expected according to age-adjusted norms. [HPO:probinson]"} {"concept_id": "C4021687", "aliases": ["Broad ulnar metaphysis"], "types": ["T033"], "canonical_name": "Wide ulnar metaphysis", "definition": "Increase in width (breadth) of the ulnar metaphysis. [HPO:probinson]"} {"concept_id": "C4021688", "aliases": ["Irregular ulnar metaphysis"], "types": ["T190"], "canonical_name": "Ulnar metaphyseal irregularity", "definition": "Irregularity of the normally smooth surface of the metaphysis of the ulna. [HPO:probinson]"} {"concept_id": "C4021689", "aliases": ["Abnormality of the epiphyseal plate of the ulna"], "types": ["T190"], "canonical_name": "Abnormality of the ulnar epiphyses"} {"concept_id": "C4021690", "aliases": ["Wide radial diaphysis"], "types": ["T033"], "canonical_name": "Broad radial diaphysis", "definition": "Increase in width of the diaphysis of radius. [HPO:probinson]"} {"concept_id": "C4021691", "aliases": ["Wide radial metaphysis"], "types": ["T033"], "canonical_name": "Broad radial metaphysis", "definition": "Increase in width (breadth) of the radial metaphysis. [HPO:probinson]"} {"concept_id": "C4021692", "aliases": ["Irregular radial metaphysis"], "types": ["T190"], "canonical_name": "Radial metaphyseal irregularity", "definition": "Irregularity of the normally smooth surface of the metaphysis of the radius. [HPO:probinson]"} {"concept_id": "C4021693", "aliases": ["Wide radial epiphyseal plates"], "types": ["T033"], "canonical_name": "Broad radial epiphyseal plate", "definition": "Abnormal increase in width of the epiphyseal growth plate of the radius. [HPO:probinson]"} {"concept_id": "C4021694", "aliases": ["Abnormality of radial epiphyseal plates"], "types": ["T190"], "canonical_name": "Abnormality of radial epiphyses"} {"concept_id": "C4021695", "aliases": ["Small radial head"], "types": ["T190"], "canonical_name": "Hypoplastic radial head"} {"concept_id": "C4021696", "aliases": ["Deformity of radial heads"], "types": ["T190"], "canonical_name": "Abnormality of the radial head"} {"concept_id": "C4021697", "aliases": ["Sclerotic ulna"], "types": ["T047"], "canonical_name": "Osteosclerosis of the ulna", "definition": "Osteosclerosis (increased density related to increased bone mass) of the ulna. [HPO:probinson]"} {"concept_id": "C4021698", "aliases": ["Wide radius"], "types": ["T190"], "canonical_name": "Broad radius", "definition": "Increased width of the radius. [HPO:probinson]"} {"concept_id": "C4021699", "aliases": ["Broad radioulnar joints"], "types": ["T190"], "canonical_name": "Wide radioulnar joints"} {"concept_id": "C4021700", "aliases": ["Broad forearm bones", "Wide forearm bones"], "types": ["T190"], "canonical_name": "Broad forearm bones", "definition": "Abnormally wide bone of the skeleton of forearm. [HPO:probinson]"} {"concept_id": "C4021701", "aliases": ["Aplasia of the forearm bones", "Absent forearm bone"], "types": ["T190"], "canonical_name": "Absent forearm bone", "definition": "Absence of one or more forearm bones associated with congenital failure of development. [HPO:probinson]"} {"concept_id": "C4021702", "aliases": ["Vertical linear mixed lucent and sclerotic pattern of metaphyses"], "types": ["T033"], "canonical_name": "Sclerotic foci of metaphyses of the elbow"} {"concept_id": "C4021703", "aliases": ["Irregular wide portion of elbow bone", "Irregular metaphyses of elbow"], "types": ["T190"], "canonical_name": "Distal humeral metaphyseal irregularity", "definition": "Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow). [HPO:probinson]"} {"concept_id": "C4021704", "aliases": ["Broad humeral diaphysis", "Wide shaft of long bone in upper arm", "Broad shaft of long bone in upper arm"], "types": ["T190"], "canonical_name": "Wide humeral diaphysis", "definition": "Increased width of the humeral diaphysis. [HPO:probinson]"} {"concept_id": "C4021705", "aliases": ["Humeral diaphyseal lysis"], "types": ["T033"], "canonical_name": "Lytic defects of humeral diaphysis"} {"concept_id": "C4021706", "aliases": ["Irregular wide portion of long bone in upper arm", "Irregular humeral metaphyses"], "types": ["T033"], "canonical_name": "Humeral metaphyseal irregularity"} {"concept_id": "C4021707", "aliases": ["Enlarged wide portion of long bone of upper arm", "Expanded humeral metaphyses"], "types": ["T033"], "canonical_name": "Enlarged humeral metaphyses"} {"concept_id": "C4021708", "aliases": ["Wide humeral epiphyseal plate"], "types": ["T190"], "canonical_name": "Broad humeral epiphyseal plate", "definition": "Increased width of the humeral epiphyseal growth plate. [HPO:probinson]"} {"concept_id": "C4021709", "aliases": ["Broad epiphyses of the upper limbs", "Wide end part of upper limb bones"], "types": ["T190"], "canonical_name": "Wide epiphyses of the upper limbs"} {"concept_id": "C4021710", "aliases": ["Wide humeral epiphyses", "Wide end part of long bone in upper arm"], "types": ["T190"], "canonical_name": "Broad humeral epiphyses", "definition": "Increased width of the humeral epiphysis. [HPO:probinson]"} {"concept_id": "C4021711", "aliases": ["Stippled ossification of the humeral epiphyses"], "types": ["T190"], "canonical_name": "Epiphyseal stippling of the humerus", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis. [HPO:probinson]"} {"concept_id": "C4021712", "aliases": ["Delayed maturation/delayed ossification of the humeral epiphyses"], "types": ["T190"], "canonical_name": "Delayed humeral epiphyseal ossification", "definition": "A delay in the process of formation and maturation of the humeral epiphysis. [HPO:probinson]"} {"concept_id": "C4021713", "aliases": ["Absent ossification of the humeral epiphyses", "Absent maturation of end part of long bone in upper arm"], "types": ["T190"], "canonical_name": "Absent humeral epiphyseal ossification", "definition": "Lack of formation of bone in the epiphysis of the humerus. [HPO:probinson]"} {"concept_id": "C4021714", "aliases": ["Abnormality of end part of the long bone of the upper arm", "Abnormality of the humeral epiphyses"], "types": ["T190"], "canonical_name": "Abnormality of the humeral epiphysis", "definition": "An anomaly of the humeral epiphysis. [HPO:probinson]"} {"concept_id": "C4021715", "aliases": ["Broad humerus", "Wide long bone of upper arm"], "types": ["T190"], "canonical_name": "Wide humerus"} {"concept_id": "C4021716", "aliases": ["Sclerosis of humerus", "Increased bone density in long bone of upper arm"], "types": ["T047"], "canonical_name": "Humeral sclerosis"} {"concept_id": "C4021717", "aliases": ["Humeral sclerotic foci"], "types": ["T046"], "canonical_name": "Sclerotic foci of the humerus"} {"concept_id": "C4021718", "aliases": ["Broad shaft of long bone of the upper limbs", "Wide shaft of long bone of the upper limbs", "Wide diaphyses of the upper limbs"], "types": ["T190"], "canonical_name": "Broad diaphyses of the upper limbs"} {"concept_id": "C4021719", "aliases": ["Wide/broad metaphyses of the upper limbs", "Broad wide portion of upper limb bone"], "types": ["T033"], "canonical_name": "Upper limb metaphyseal widening", "definition": "Increased width (breadth) of metaphyses of the arms. [HPO:probinson]"} {"concept_id": "C4021720", "aliases": ["Irregular wide portion of upper limb bones", "Irregular metaphyses of the upper limbs"], "types": ["T033"], "canonical_name": "Upper-limb metaphyseal irregularity"} {"concept_id": "C4021721", "aliases": ["Flared metaphyses of the upper limbs", "Flared wide portion of the upper limb bone"], "types": ["T033"], "canonical_name": "Flared upper limb metaphysis", "definition": "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm. [HPO:probinson]"} {"concept_id": "C4021722", "aliases": ["Abnormal shape of end part of upper limb long bones", "Abnormality involving the epiphyses of the upper limbs", "Epihyseal plate abnormality of the upper limbs"], "types": ["T190"], "canonical_name": "Abnormality of upper limb epiphysis morphology"} {"concept_id": "C4021723", "aliases": ["Short middle bones (feet)", "Short middle phalanges of toes"], "types": ["T190"], "canonical_name": "Short middle phalanx of toe", "definition": "Developmental hypoplasia (shortening) of middle phalanx of toe. [HPO:probinson]"} {"concept_id": "C4021724", "aliases": ["Cytochrome C oxidase-negative muscle fibres", "Cytochrome c oxidase deficiency in skeletal muscle", "Decreased activity of cytochrome C oxidase in muscle tissue", "Decreased skeletal muscle cytochrome c oxidase activity"], "types": ["T033"], "canonical_name": "Cytochrome C oxidase-negative muscle fibers", "definition": "An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue. [HPO:probinson]"} {"concept_id": "C4021725", "aliases": ["Deficient N-acetylglucosaminyltransferase II"], "types": ["T033"], "canonical_name": "Reduced level of N-acetylglucosaminyltransferase II", "definition": "An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. [HPO:gcarletti]"} {"concept_id": "C4021726", "aliases": ["Myopathic electromyogram", "EMG: myopathic changes", "EMG: myopathy"], "types": ["T046"], "canonical_name": "EMG: myopathic abnormalities", "definition": "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. [HPO:curators]"} {"concept_id": "C4021727", "aliases": ["EMG: neurogenic abnormalities", "EMG: neurogenic changes", "EMG: neurogenic findings"], "types": ["T033"], "canonical_name": "EMG: neuropathic changes", "definition": "The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). [HPO:probinson]"} {"concept_id": "C4021728", "aliases": ["EMG: decremental response of CMAP to repetitive nerve stimulation"], "types": ["T033"], "canonical_name": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation", "definition": "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. [HPO:probinson]"} {"concept_id": "C4021729", "aliases": ["Increased plasma VLDL cholesterol", "Increased circulating very-low-density lipoprotein levels", "Increased circulating very-low-density lipoprotein cholesterol"], "types": ["T033"], "canonical_name": "Increased VLDL cholesterol concentration", "definition": "An increase in the amount of very-low-density lipoprotein cholesterol in the blood. [HPO:gcarletti]"} {"concept_id": "C4021730", "aliases": ["Junctional split", "Blistering with junctional split", "Subepidermal blistering with cleavage in the lamina lucida"], "types": ["T033"], "canonical_name": "Lamina lucida cleavage", "definition": "The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. [HPO:probinson]"} {"concept_id": "C4021731", "aliases": ["Anemia corrected by uridylic acid and cytidylic acid", "Anaemia corrected by uridylic acid and cytidylic acid", "Pyrimidine-responsive megaloblastic anaemia"], "types": ["T047"], "canonical_name": "Pyrimidine-responsive megaloblastic anemia", "definition": "A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid. [HPO:probinson]"} {"concept_id": "C4021732", "aliases": ["Poor prothrombin consumption"], "types": ["T033"], "canonical_name": "Reduced prothrombin consumption", "definition": "The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia. [HPO:probinson]"} {"concept_id": "C4021733", "aliases": ["Lysinuria", "High urine lysine levels"], "types": ["T033"], "canonical_name": "Hyperlysinuria", "definition": "An increased concentration of lysine in the urine. [HPO:probinson, PMID:18901181, PMID:20240447]"} {"concept_id": "C4021734", "aliases": ["Mitochondrial dysfunction"], "types": ["T033"], "canonical_name": "Abnormality of mitochondrial metabolism", "definition": "A functional anomaly of mitochondria. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4021735", "aliases": ["Abnormality of the hip bone", "Abnormality of the hips"], "types": ["T190"], "canonical_name": "Abnormal hip bone morphology", "definition": "An abnormality of the hip bone. [HPO:probinson]"} {"concept_id": "C4021736", "aliases": ["Methylcobalamin deficiency"], "types": ["T033"], "definition": "Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. [HPO:probinson]", "canonical_name": "Decreased methylcobalamin"} {"concept_id": "C4021737", "aliases": ["Chromosomal breakage induced by diepoxybutane", "Chromosomal breakage induced by mitomycin C"], "types": ["T033"], "canonical_name": "Chromosomal breakage induced by crosslinking agents", "definition": "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. [HPO:sdoelken]"} {"concept_id": "C4021738", "aliases": ["Abnormality of the pubis", "Abnormality of the pubic bone", "Abnormality of the pubic bones"], "types": ["T190"], "canonical_name": "Abnormality of the pubic bone", "definition": "An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone. [HPO:probinson]"} {"concept_id": "C4021739", "aliases": ["Abnormality of the hipbone socket", "Acetabular abnormality", "Abnormality of the acetabulum"], "types": ["T190"], "canonical_name": "Abnormal acetabulum morphology", "definition": "An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. [HPO:probinson]"} {"concept_id": "C4021740", "aliases": ["Increased circulating ACTH level", "Increased plasma ACTH", "High blood corticotropin levels"], "types": ["T033"], "canonical_name": "Increased circulating ACTH level", "definition": "An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. [HPO:probinson]"} {"concept_id": "C4021741", "aliases": ["Abnormality of cortical bone", "Abnormal compact bone morphology"], "types": ["T190"], "canonical_name": "Abnormal cortical bone morphology", "definition": "An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. [HPO:sdoelken]"} {"concept_id": "C4021742", "aliases": ["Abnormality of the humeri"], "types": ["T190"], "canonical_name": "Abnormality of the humerus", "definition": "An abnormality of the humerus (i.e., upper arm bone). [HPO:curators]"} {"concept_id": "C4021743", "aliases": ["Abnormal kneecap", "Abnormality of the patella", "Patellar abnormality"], "types": ["T190"], "canonical_name": "Abnormal patella morphology", "definition": "Abnormality of the patella (knee cap). [HPO:probinson]"} {"concept_id": "C4021744", "aliases": ["Abnormality of the wrist", "Abnormalities of the wrists"], "types": ["T190"], "canonical_name": "Abnormality of the wrist", "definition": "Abnormality of the wrist, the structure connecting the hand and the forearm. [HPO:probinson]"} {"concept_id": "C4021745", "aliases": ["Muscular abnormality"], "types": ["T190"], "canonical_name": "Abnormality of the musculature", "definition": "Abnormality originating in one or more muscles, i.e., of the set of muscles of body. [HPO:probinson]"} {"concept_id": "C4021746", "aliases": ["Abnormality of the ilium", "Iliac abnormalities"], "types": ["T190"], "canonical_name": "Abnormal ilium morphology", "definition": "An abnormality of the ilium, the largest and uppermost bone of the pelvis. [HPO:probinson]"} {"concept_id": "C4021747", "aliases": ["Decreased specific anti-polysaccharide antibody level", "Specific anti-polysaccharide antibody deficiency", "Depressed antibody response to polysaccharide antigens"], "types": ["T033"], "definition": "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. [HPO:probinson]", "canonical_name": "Low specific anti-polysaccharide antibody titer"} {"concept_id": "C4021748", "aliases": ["Abnormal B cells", "Abnormality of B cells"], "types": ["T033"], "canonical_name": "Abnormal B cell morphology", "definition": "A structural abnormality of B cells. [HPO:probinson, PMID:18725575]"} {"concept_id": "C4021749", "aliases": ["Lytic cystic lesions in appendicular bones"], "types": ["T033"], "canonical_name": "Cystic angiomatosis of bone", "definition": "Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping. [HPO:probinson, PMID:11930062]"} {"concept_id": "C4021750", "aliases": ["Abnormality of the femora", "Abnormality of the thighbone"], "types": ["T190"], "canonical_name": "Abnormality of femur morphology", "definition": "Any anomaly of the structure of the femur. [HPO:probinson]"} {"concept_id": "C4021751", "aliases": ["Klebsiella infections, recurrent"], "types": ["T033"], "canonical_name": "Recurrent Klebsiella infections", "definition": "Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection. [HPO:probinson]"} {"concept_id": "C4021752", "aliases": ["Aspergillus infections, recurrent"], "types": ["T033"], "canonical_name": "Recurrent Aspergillus infections", "definition": "An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections. [HPO:probinson]"} {"concept_id": "C4021753", "aliases": ["Abnormality of the immune system", "Immunological abnormality"], "types": ["T046"], "canonical_name": "Abnormality of the immune system", "definition": "An abnormality of the immune system. [HPO:probinson]"} {"concept_id": "C4021754", "aliases": ["Abnormality of the sella turcica", "Anomaly of the sella turcica"], "types": ["T190"], "canonical_name": "Abnormal sella turcica morphology", "definition": "Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. [HPO:probinson]"} {"concept_id": "C4021755", "aliases": ["Abnormality of the midbrain", "Abnormal shape of midbrain", "Abnormality of midbrain morphology", "Abnormality of the mesencephalon"], "types": ["T190"], "canonical_name": "Abnormal midbrain morphology", "definition": "An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. [HPO:probinson]"} {"concept_id": "C4021756", "aliases": ["Thick cerebellar peduncles"], "types": ["T033"], "canonical_name": "Thickened superior cerebellar peduncle", "definition": "Increased width of the superior cerebellar peduncle. [HPO:probinson]"} {"concept_id": "C4021757", "aliases": ["EEG: spike and multispike waves, 3-4 hz"], "types": ["T033"], "canonical_name": "EEG with polyspike wave complexes", "definition": "The presence of complexes of repetitive spikes and waves in EEG. [HPO:jalbers]"} {"concept_id": "C4021758", "aliases": ["Delay in central nervous system myelination"], "types": ["T190"], "canonical_name": "Delayed CNS myelination", "definition": "Delayed myelination in the central nervous system. [HPO:probinson]"} {"concept_id": "C4021759", "aliases": ["Generalised epileptic myoclonus", "Generalised myoclonic seizures", "Generalized myoclonic seizure", "Generalised myoclonic seizure", "Myoclonus seizures", "Generalized epileptic myoclonus"], "types": ["T047"], "definition": "A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. [HPO:jalbers, PMID:28276060, PMID:28276064]", "canonical_name": "Generalized myoclonic seizures"} {"concept_id": "C4021760", "aliases": ["Abnormality of the lungs", "Unusal lung shape", "Abnormally shaped lung", "Abnormality of lung structure"], "types": ["T190"], "canonical_name": "Abnormal lung morphology", "definition": "Any structural anomaly of the lung. [HPO:probinson]"} {"concept_id": "C4021761", "aliases": ["Abnormality of the pyramidal tracts"], "types": ["T190"], "canonical_name": "Morphological abnormality of the pyramidal tract", "definition": "Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. [HPO:curators]"} {"concept_id": "C4021762", "aliases": ["Cerebral lesion", "Abnormality of the telencephalon", "Abnormality of the cerebrum"], "types": ["T190"], "definition": "Any structural abnormality of the telencephalon, which is also known as the cerebrum. [HPO:probinson]", "canonical_name": "Abnormal cerebral morphology"} {"concept_id": "C4021763", "aliases": ["Malformation of the area between the eyebrows", "Glabellar abnormality", "Abnormality of the area between the eyebrows", "Deformity of the area between the eyebrows"], "types": ["T190"], "canonical_name": "Abnormality of the glabella", "definition": "An abnormality of the glabella. [HPO:probinson]"} {"concept_id": "C4021764", "aliases": ["Gastrointestinal tract defects", "Abnormality of the abdominal organs"], "types": ["T190"], "canonical_name": "Abnormality of the abdominal organs", "definition": "An abnormality of the viscera of the abdomen. [HPO:probinson]"} {"concept_id": "C4021765", "aliases": ["Morphological abnormality of the central nervous system", "Morphological abnormality of the CNS", "Abnormality of the central nervous system"], "types": ["T190"], "canonical_name": "Morphological central nervous system abnormality", "definition": "A structural abnormality of the central nervous system. [HPO:probinson]"} {"concept_id": "C4021766", "aliases": ["Cd43 defectively expressed on surface of blood cells", "Reduced lymphocyte surface expression of sialophorin"], "types": ["T033"], "canonical_name": "Reduced lymphocyte surface expression of CD43", "definition": "A reduction in the expression of CD43 on the cell surface of lymphocytes. [HPO:probinson]"} {"concept_id": "C4021767", "aliases": ["Reduced level of platelet glycoprotein IIb/IIIa complex"], "types": ["T033"], "canonical_name": "Decreased platelet glycoprotein IIb-IIIa", "definition": "Decreased cell membrane concentration of glycoprotein IIb-IIIa. [DDD:ouwehand]"} {"concept_id": "C4021768", "aliases": ["Metabolism abnormality", "Laboratory abnormality"], "types": ["T033"], "canonical_name": "Abnormality of metabolism/homeostasis"} {"concept_id": "C4021769", "aliases": ["Short second toe"], "types": ["T190"], "canonical_name": "Short 2nd toe", "definition": "Underdevelopment (hypoplasia) of the second toe. [HPO:probinson]"} {"concept_id": "C4021770", "aliases": ["Clinodactyly of feet"], "types": ["T019"], "definition": "Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). [HPO:probinson]", "canonical_name": "Toe clinodactyly"} {"concept_id": "C4021771", "aliases": ["Hypoplastic distal phalanges of feet", "Short outermost bone of toe"], "types": ["T190"], "canonical_name": "Short distal phalanx of toe", "definition": "Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe. [PMID:19125433]"} {"concept_id": "C4021772", "aliases": ["Bifid terminal phalanx of toe", "Notched outermost bones of toes", "Bifid distal phalanges of toes"], "types": ["T190"], "canonical_name": "Bifid distal phalanx of toe"} {"concept_id": "C4021773", "aliases": ["Abnormalities of the hallux", "Abnormality of the big toe"], "types": ["T190"], "canonical_name": "Abnormality of the hallux", "definition": "This term applies for all abnormalities of the big toe, also called hallux. [HPO:probinson]"} {"concept_id": "C4021774", "aliases": ["Camptodactyly of feet"], "types": ["T190"], "canonical_name": "Camptodactyly of toe", "definition": "Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. [HPO:probinson]"} {"concept_id": "C4021775", "aliases": ["High-tone sensorineural hearing impairment", "High frequency sensorineural hearing impairment", "High-tone sensorineural deafness"], "types": ["T047"], "canonical_name": "High-frequency sensorineural hearing impairment", "definition": "A form of sensorineural hearing impairment that affects primarily the higher frequencies. [HPO:probinson]"} {"concept_id": "C4021776", "aliases": ["Abnormality of the voice", "Voice abnormality"], "types": ["T033"], "canonical_name": "Abnormality of the voice"} {"concept_id": "C4021777", "aliases": ["Laryngeal anomalies", "Laryngeal abnormalities"], "types": ["T190"], "canonical_name": "Abnormality of the larynx", "definition": "An abnormality of the larynx. [HPO:probinson]"} {"concept_id": "C4021778", "aliases": ["Abnormality of shoulder musculature"], "types": ["T190"], "canonical_name": "Abnormality of the shoulder girdle musculature"} {"concept_id": "C4021779", "aliases": ["Abnormal calf muscles", "Abnormality of calf musculature"], "types": ["T190"], "canonical_name": "Abnormality of the calf musculature"} {"concept_id": "C4021780", "aliases": ["Abnormal liver", "Abnormality of the liver"], "types": ["T033"], "definition": "An abnormality of the liver. [HPO:probinson]", "canonical_name": "Liver abnormality"} {"concept_id": "C4021781", "aliases": ["Neurophysiologic abnormalities", "Neurophysiologic abnormality"], "types": ["T046"], "canonical_name": "Abnormal nervous system electrophysiology", "definition": "An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. [HPO:probinson]"} {"concept_id": "C4021782", "aliases": ["Abnormal fingernails", "Abnormality of the fingernails"], "types": ["T190"], "canonical_name": "Abnormal fingernail morphology", "definition": "An abnormality of the fingernails. [HPO:probinson]"} {"concept_id": "C4021783", "aliases": ["Thenar abnormality"], "types": ["T190"], "canonical_name": "Abnormality of the thenar eminence", "definition": "An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb. [HPO:curators]"} {"concept_id": "C4021784", "aliases": ["Interphalangeal joint flexion contractures"], "types": ["T190"], "canonical_name": "Interphalangeal joint contracture of finger", "definition": "Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. [HPO:probinson]"} {"concept_id": "C4021786", "aliases": ["Atypical scarring of skin", "Atypical scarring"], "types": ["T046"], "canonical_name": "Atypical scarring of skin", "definition": "Atypically scarred skin . [HPO:sdoelken]"} {"concept_id": "C4021787", "aliases": ["Abnormality of shaft of long bone of the limbs", "Abnormality of the diaphyses", "Abnormality involving the diaphyses of the limbs", "Anomaly of the limb diaphyses", "Anomaly of the limb diaphyses morphology", "Abnormal shape of shaft of long bone"], "types": ["T190"], "canonical_name": "Abnormal diaphysis morphology", "definition": "An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. [HPO:probinson]"} {"concept_id": "C4021788", "aliases": ["Thinning and bulging of posterior skull bones", "Thinning and bulging of posterior fossa bones"], "types": ["T033"], "canonical_name": "Thinning and bulging of the posterior fossa bones"} {"concept_id": "C4021789", "aliases": ["Abnormal spine", "Abnormal vertebral column", "Abnormality of the spine", "Abnormality of the vertebral column"], "types": ["T190"], "canonical_name": "Abnormality of the vertebral column", "definition": "Any abnormality of the vertebral column. [HPO:probinson]"} {"concept_id": "C4021790", "aliases": ["Skeletal abnormalities", "Skeletal anomalies", "Abnormality of the skeletal system"], "types": ["T190"], "canonical_name": "Abnormality of the skeletal system", "definition": "An abnormality of the skeletal system. [HPO:probinson]"} {"concept_id": "C4021791", "aliases": ["Costochondral juctions abnormal"], "types": ["T190"], "canonical_name": "Abnormality of the costochondral junction", "definition": "Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. [HPO:probinson]"} {"concept_id": "C4021792", "aliases": ["Abnormal clavicles", "Abnormality of the clavicle", "Abnormal collarbone"], "types": ["T190"], "canonical_name": "Abnormal clavicle morphology", "definition": "Any abnormality of the clavicles (collar bones). [HPO:probinson]"} {"concept_id": "C4021793", "aliases": ["Abnormality of the renin-aldosterone axis"], "types": ["T190"], "canonical_name": "Abnormality of renin-angiotensin system", "definition": "An abnormality of the renin-angiotensin system. [HPO:probinson]"} {"concept_id": "C4021794", "aliases": ["Adrenal abnormalities"], "types": ["T190"], "canonical_name": "Abnormality of the adrenal glands", "definition": "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. [HPO:probinson]"} {"concept_id": "C4021795", "aliases": ["Abnormality of the tricarboxylic cycle", "Abnormality of citric acid cycle"], "types": ["T033"], "canonical_name": "Abnormality of Krebs cycle metabolism", "definition": "An abnormality of the tricarboxylic acid cycle. [HPO:probinson]"} {"concept_id": "C4021796", "aliases": ["Fatty kidney"], "types": ["T047"], "canonical_name": "Renal steatosis", "definition": "Abnormal fat accumulation in the kidneys. [HPO:probinson]"} {"concept_id": "C4021797", "aliases": ["Abnormality of the chest", "Abnormality of the thorax", "Structural abnormality of the chest wall"], "types": ["T190"], "canonical_name": "Abnormal thorax morphology", "definition": "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). [HPO:probinson]"} {"concept_id": "C4021798", "aliases": ["Impaired use of nonverbal behaviours", "Impaired use of nonverbal behaviors"], "types": ["T048"], "canonical_name": "Abnormal nonverbal communicative behavior", "definition": "Any abnormal nonverbal communication, such as reduced use of eye-to-eye gaze, atypical facial expressions, body posture, and gestures. [HPO:probinson]"} {"concept_id": "C4021799", "aliases": ["Restricted behavior", "Restricted behaviour", "Restrictive behaviour"], "types": ["T048"], "canonical_name": "Restrictive behavior", "definition": "Behavior characterized by an abnormal limitation to few interests and activities. [HPO:probinson]"} {"concept_id": "C4021800", "aliases": ["Abnormality of dental enamel", "Abnormal tooth enamel", "Enamel abnormalities", "Enamel abnormality", "Malformation of dental enamel", "Malformation of tooth enamel"], "types": ["T190"], "canonical_name": "Abnormal dental enamel morphology", "definition": "An abnormality of the dental enamel. [HPO:probinson]"} {"concept_id": "C4021801", "aliases": ["Abnormality of tear production"], "types": ["T190"], "canonical_name": "Lacrimation abnormality", "definition": "Abnormality of tear production. [HPO:probinson]"} {"concept_id": "C4021802", "aliases": ["Retinal arterial abnormality", "Abnormality of retinal arteries"], "types": ["T190"], "canonical_name": "Abnormal retinal artery morphology"} {"concept_id": "C4021803", "aliases": ["Abnormality of the eyelids", "Abnormality of the eyelid"], "types": ["T190"], "canonical_name": "Abnormal eyelid morphology", "definition": "An abnormality of the eyelids. [HPO:probinson]"} {"concept_id": "C4021804", "aliases": ["Abnormality of the nasal ala"], "types": ["T190"], "canonical_name": "Abnormality of the nasal alae", "definition": "An abnormality of the Ala of nose. [HPO:probinson, PMID:19152422]"} {"concept_id": "C4021805", "aliases": ["Abnormality of the nasal root", "Abnormality of the nasal bridge", "Malformation of the bridge of the nose", "Abnormality of the bridge of the nose", "Deformity of the bridge of the nose", "Deformity of the nasal bridge", "Malformation of the nasal bridge"], "types": ["T190"], "canonical_name": "Abnormal nasal bridge morphology", "definition": "Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. [HPO:probinson, PMID:19152422]"} {"concept_id": "C4021806", "aliases": ["Prelingual sensorineural deafness", "Deafness, sensorineural, prelingual"], "types": ["T047"], "canonical_name": "Prelingual sensorineural hearing impairment", "definition": "A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. [HPO:probinson]"} {"concept_id": "C4021807", "aliases": ["Auditory canal abnormality"], "types": ["T190"], "canonical_name": "Abnormality of the auditory canal", "definition": "An abnormality of the External acoustic tube (also known as the auditory canal). [HPO:probinson]"} {"concept_id": "C4021808", "aliases": ["Abnormality of ear lobe", "Abnormality of lobulus auriculae", "Abnormal lobe of ear", "Abnormality of earlobe", "Abnormality of auricular lobule", "Abnormal earlobe"], "types": ["T190"], "canonical_name": "Abnormal earlobe morphology", "definition": "An abnormality of the lobule of pinna. [HPO:probinson]"} {"concept_id": "C4021809", "aliases": ["Inner ear abnormality", "Abnormality of the inner ear"], "types": ["T190"], "canonical_name": "Abnormality of the inner ear", "definition": "An abnormality of the inner ear. [HPO:probinson]"} {"concept_id": "C4021810", "aliases": ["External ear position defect", "Abnormal location of ears"], "types": ["T190"], "canonical_name": "Abnormal location of ears", "definition": "Abnormal location of the ear. [HPO:probinson]"} {"concept_id": "C4021811", "aliases": ["Malformation of the midface", "Anomaly of the midface", "Abnormality of the midface", "Deformity of the midface"], "types": ["T190"], "canonical_name": "Abnormality of the midface", "definition": "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. [HPO:probinson, PMID:19125436]"} {"concept_id": "C4021812", "aliases": ["Head abnormality", "Abnormal head", "Abnormality of the head"], "types": ["T190"], "canonical_name": "Abnormality of the head", "definition": "An abnormality of the head. [HPO:probinson]"} {"concept_id": "C4021813", "aliases": ["Oral clefting", "Cleft of the mouth"], "types": ["T019"], "canonical_name": "Oral cleft", "definition": "The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. [HPO:probinson, PMID:21331089]"} {"concept_id": "C4021814", "aliases": ["Extra oral frenulum", "Accessory oral frenum", "Supernumerary oral frenulum", "Supernumerary oral frenum", "Multiple oral frenula", "Extra oral frenum"], "types": ["T190"], "canonical_name": "Accessory oral frenulum", "definition": "Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. [PMID:19125428]"} {"concept_id": "C4021815", "aliases": ["Palatal anomaly", "Abnormality of the palate", "Abnormality of the roof of the mouth", "Palate abnormality"], "types": ["T033"], "canonical_name": "Abnormal palate morphology", "definition": "Any abnormality of the palate, i.e., of roof of the mouth. [HPO:probinson]"} {"concept_id": "C4021816", "aliases": ["Abnormality of the gums", "Gingival abnormality"], "types": ["T190"], "canonical_name": "Abnormality of the gingiva", "definition": "Any abnormality of the gingiva (also known as gums). [HPO:probinson]"} {"concept_id": "C4021817", "aliases": ["Abnormality of head or neck", "Head and neck abnormality"], "types": ["T190"], "canonical_name": "Abnormality of head or neck", "definition": "An abnormality of head and neck. [HPO:probinson]"} {"concept_id": "C4021818", "aliases": ["Abnormality of the ovaries", "Abnormality of the ovary"], "types": ["T190"], "canonical_name": "Abnormality of the ovary", "definition": "An abnormality of the ovary. [HPO:probinson]"} {"concept_id": "C4021819", "aliases": ["Organ abnormality"], "types": ["T190"], "canonical_name": "Phenotypic abnormality", "definition": "A phenotypic abnormality. [HPO:probinson]"} {"concept_id": "C4021820", "aliases": ["Genital functional abnormality", "Abnormality of reproductive system physiology"], "types": ["T046"], "canonical_name": "Abnormality of reproductive system physiology", "definition": "An abnormal functionality of the genital system. [HPO:probinson]"} {"concept_id": "C4021821", "aliases": ["Urinary tract abnormality", "Urinary tract anomalies", "Urinary tract abnormalities"], "types": ["T047"], "canonical_name": "Abnormality of the urinary system", "definition": "An abnormality of the urinary system. [HPO:probinson]"} {"concept_id": "C4021822", "aliases": ["Abnormal female external genitalia"], "types": ["T190"], "canonical_name": "Abnormality of female external genitalia", "definition": "An abnormality of the female external genitalia. [HPO:probinson]"} {"concept_id": "C4021823", "aliases": ["Ambiguous genitalia in males"], "types": ["T033"], "canonical_name": "Ambiguous genitalia, male", "definition": "Ambiguous genitalia in an individual with XY genetic gender. [HPO:probinson]"} {"concept_id": "C4021824", "aliases": [], "types": ["T019"], "canonical_name": "Postaxial polysyndactyly of foot", "definition": "Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe). [HPO:probinson]"} {"concept_id": "C4021825", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the phalanges of the 3rd toe"} {"concept_id": "C4021826", "aliases": ["Morphologic abnormality of the renal tubules", "Abnormality of the renal tubule"], "types": ["T190"], "canonical_name": "Abnormal renal tubule morphology", "definition": "An abnormality of the renal tubules. [HPO:probinson]"} {"concept_id": "C4021827", "aliases": ["Sysnostosis of all cranial sutures"], "types": ["T047"], "canonical_name": "Pansynostosis", "definition": "Craniosynostosis of all calvarial sutures. [DDD:awilkie]"} {"concept_id": "C4021828", "aliases": [], "types": ["T033"], "canonical_name": "Advanced pneumatization of the mastoid process", "definition": "An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. [HPO:probinson]"} {"concept_id": "C4021829", "aliases": ["Narrow nail"], "types": ["T190"], "canonical_name": "Narrow nail", "definition": "Decreased width of nail. [PMID:19125433]"} {"concept_id": "C4021830", "aliases": [], "types": ["T019"], "canonical_name": "Bilateral camptodactyly"} {"concept_id": "C4021831", "aliases": ["Lack of sweating or excessive sweating"], "types": ["T047"], "canonical_name": "Hypohidrosis or hyperhidrosis"} {"concept_id": "C4021832", "aliases": ["Abnormality of the calf"], "types": ["T190"], "canonical_name": "Abnormality of the calf", "definition": "An abnormality of the calf, i.e. of the posterior part of the lower leg. [HPO:probinson]"} {"concept_id": "C4021833", "aliases": ["High urine uracil levels"], "types": ["T033"], "canonical_name": "Uraciluria", "definition": "Increased concentration of uracil in the urine. [HPO:probinson]"} {"concept_id": "C4021834", "aliases": ["Abnormality of the parietal bone", "Abnormality of the parietal bone of skull"], "types": ["T190"], "canonical_name": "Abnormal parietal bone morphology", "definition": "Any abnormality of the parietal bone of the skull. [HPO:curators]"} {"concept_id": "C4021835", "aliases": [], "types": ["T191"], "canonical_name": "Sacral lipoma", "definition": "Presence of a lipoma in the region of the sacrum. [HPO:probinson]"} {"concept_id": "C4021836", "aliases": ["Hyperelastic chest skin", "Stretchable chest skin"], "types": ["T033"], "canonical_name": "Hyperextensible skin of chest"} {"concept_id": "C4021837", "aliases": [], "types": ["T033"], "canonical_name": "Atypical nevi in non-sun exposed areas"} {"concept_id": "C4021838", "aliases": [], "types": ["T046"], "canonical_name": "Premature epimetaphyseal fusion in fibula", "definition": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson]"} {"concept_id": "C4021839", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal dense granule content", "definition": "A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated. [DDD:wouwehand]"} {"concept_id": "C4021840", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal surface-connected open canalicular system", "definition": "An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction. [HPO:probinson, PMID:1760557]"} {"concept_id": "C4021841", "aliases": [], "types": ["T033"], "canonical_name": "Lytic defects of the radius"} {"concept_id": "C4021842", "aliases": [], "types": ["T190"], "canonical_name": "Cortical thickening of the forearm bones"} {"concept_id": "C4021843", "aliases": ["Increased serum fT3", "Increased serum free triiodothyronine", "Increased serum free T3", "Increased circulating free triiodothyronine"], "types": ["T033"], "canonical_name": "Increased circulating free T3", "definition": "An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. [HPO:probinson]"} {"concept_id": "C4021844", "aliases": ["Absent/small cerebral white matter", "Absent/underdeveloped cerebral white matter"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the cerebral white matter", "definition": "Absence or underdevelopment of the cerebral white matter. [HPO:probinson]"} {"concept_id": "C4021845", "aliases": [], "types": ["T047"], "canonical_name": "Oromotor apraxia"} {"concept_id": "C4021846", "aliases": ["Functional abnormality of the middle ear"], "types": ["T033"], "canonical_name": "Functional abnormality of the middle ear", "definition": "An abnormality of the function of the middle ear. [HPO:probinson]"} {"concept_id": "C4021847", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal cartilage collagen", "definition": "Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix. [HPO:probinson, PMID:11879535, PMID:7757081, PMID:9468540]"} {"concept_id": "C4021848", "aliases": [], "types": ["T049"], "canonical_name": "Abnormality of DNA repair", "definition": "A defect in the repair of damaged DNA that results from variations or mutations in one or more genes encoding proteins involved in DNA repair pathways."} {"concept_id": "C4021849", "aliases": [], "types": ["T047"], "canonical_name": "Conjunctival hamartoma", "definition": "A hamartoma (disordered proliferation of mature tissues) of the conjunctiva. [HPO:probinson]"} {"concept_id": "C4021850", "aliases": ["Increased sensitivity to ionising radiation"], "types": ["T033"], "canonical_name": "Increased sensitivity to ionizing radiation", "definition": "An abnormally increased sensitivity to the effects of ionizing radiation. [HPO:probinson]"} {"concept_id": "C4021851", "aliases": ["Slender long bone of upper arm"], "types": ["T033"], "canonical_name": "Slender humerus", "definition": "Reduction in diameter of the humerus. [HPO:probinson]"} {"concept_id": "C4021852", "aliases": [], "types": ["T033"], "canonical_name": "Reduction of oligodendroglia"} {"concept_id": "C4021853", "aliases": [], "types": ["T047"], "canonical_name": "Spinal dysplasia", "definition": "The presence of developmental dysplasia of the vertebral column. [HPO:probinson]"} {"concept_id": "C4021856", "aliases": ["Abnormality of the line of Schwalbe"], "types": ["T190"], "canonical_name": "Abnormal line of Schwalbe morphology", "definition": "An abnormality of the line of Schwalbe. [HPO:probinson]"} {"concept_id": "C4021857", "aliases": [], "types": ["T047"], "canonical_name": "Speckled corneal dystrophy"} {"concept_id": "C4021858", "aliases": ["Abnormality of nasal hair", "Abnormality of nose hair"], "types": ["T190"], "canonical_name": "Abnormality of nasal hair"} {"concept_id": "C4021859", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count", "definition": "A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells. [HPO:probinson]"} {"concept_id": "C4021860", "aliases": [], "types": ["T190"], "canonical_name": "Metaphyseal chondromatosis of humerus"} {"concept_id": "C4021861", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the midnasal cavity", "definition": "Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae. [HPO:curators]"} {"concept_id": "C4021862", "aliases": ["Absent end part of bone"], "types": ["T190"], "canonical_name": "Absent epiphyses"} {"concept_id": "C4021863", "aliases": ["Abnormality of vitamin C metabolism"], "types": ["T033"], "canonical_name": "Abnormality of vitamin C metabolism"} {"concept_id": "C4021864", "aliases": ["Increased length of shankbone", "Increased length of shinbone"], "types": ["T190"], "canonical_name": "Increased length of the tibia", "definition": "An abnormal increase in the length of the tibia. [HPO:curators]"} {"concept_id": "C4021865", "aliases": ["Long outermost bone of finger"], "types": ["T190"], "canonical_name": "Long distal phalanx of finger", "definition": "Increased length of the distal phalanx of finger. [HPO:probinson]"} {"concept_id": "C4021867", "aliases": ["Absence of palatine bone calcification", "Absence of palatine bone mineralization", "Absence of palatine bone formation"], "types": ["T033"], "canonical_name": "Absent palatine bone ossification", "definition": "Lack of formation of the palatine bone. [GOC:MG]"} {"concept_id": "C4021868", "aliases": [], "types": ["T190"], "canonical_name": "Defect of palpebral conjunctiva", "definition": "An abnormality of the palpebral conjunctiva. [GOC:MG]"} {"concept_id": "C4021869", "aliases": ["Anomaly of the ethmoid bone", "Deformity of the ethmoid bone", "Abnormality of ethmoid bone", "Malformation of the ethmoid bone"], "types": ["T190"], "canonical_name": "Abnormal ethmoid bone morphology", "definition": "An abnormality of the ethmoid bone [GOC:MG]"} {"concept_id": "C4021870", "aliases": [], "types": ["T190"], "canonical_name": "Frontomalar faciosynostosis"} {"concept_id": "C4021871", "aliases": ["Anomaly of the palatine bone", "Malformation of the palatine bone", "Deformity of the palatine bone", "Abnormality of the palatine bone"], "types": ["T190"], "canonical_name": "Abnormal palatine bone morphology", "definition": "An abnormality of the palatine bone. [GOC:MG]"} {"concept_id": "C4021872", "aliases": ["Deformity of the lacrimal bone", "Malformation of the lacrimal bone"], "types": ["T190"], "canonical_name": "Anomaly of the lacrimal bone"} {"concept_id": "C4021873", "aliases": ["Abnormality of the bone of the forehead", "Abnormality of the frontal bone", "Malformation of the frontal bone", "Anomaly of the frontal bone", "Deformity of the frontal bone"], "types": ["T190"], "canonical_name": "Abnormal frontal bone morphology", "definition": "An abnormality of the frontal bone. [GOC:MG]"} {"concept_id": "C4021874", "aliases": [], "types": ["T190"], "canonical_name": "Focal absence of the external ear", "definition": "Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe). [eom:5b0e213b31288acd, PMID:19152421]"} {"concept_id": "C4021875", "aliases": ["Vertical excess of chin", "Vertical hyperplasia of chin", "Increased height of chin", "Long chin", "Increased height of menton region", "Tall chin"], "types": ["T190"], "canonical_name": "Tall chin", "definition": "Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin. [eom:96d8ca16a3c80216, PMID:19125436]"} {"concept_id": "C4021876", "aliases": ["Agenesis of lower incisor", "Failure of development of mandibular incisor"], "types": ["T190"], "canonical_name": "Agenesis of mandibular incisor"} {"concept_id": "C4021877", "aliases": ["Failure of development of maxillary incisor", "Failure of development of upper incisor"], "types": ["T190"], "canonical_name": "Agenesis of maxillary incisor"} {"concept_id": "C4021878", "aliases": ["Agenesis of deciduous mandibular lateral incisor", "Failure of development of primary mandibular lateral incisor", "Failure of development of deciduous mandibular lateral incisor"], "types": ["T019"], "canonical_name": "Agenesis of primary mandibular lateral incisor"} {"concept_id": "C4021879", "aliases": ["Failure of development of permanent mandibular lateral incisor"], "types": ["T190"], "canonical_name": "Agenesis of permanent mandibular lateral incisor"} {"concept_id": "C4021880", "aliases": ["Failure of development of mandibular lateral incisor"], "types": ["T019"], "canonical_name": "Agenesis of mandibular lateral incisor"} {"concept_id": "C4021881", "aliases": ["Failure of development of lateral incisor"], "types": ["T190"], "canonical_name": "Agenesis of lateral incisor"} {"concept_id": "C4021882", "aliases": [], "types": ["T033"], "canonical_name": "Increased serum bile acid concentration during pregnancy"} {"concept_id": "C4021883", "aliases": ["Abnormal liver function tests during pregnancy"], "types": ["T033"], "canonical_name": "Abnormal liver function tests during pregnancy"} {"concept_id": "C4021884", "aliases": [], "types": ["T019"], "canonical_name": "Bilateral choanal atresia/stenosis"} {"concept_id": "C4021885", "aliases": [], "types": ["T047"], "canonical_name": "Atrial cardiomyopathy", "definition": "Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations. [PMID:27402624]"} {"concept_id": "C4021887", "aliases": ["Aphalangy, hands and feet"], "types": ["T190"], "canonical_name": "Aphalangy of hands and feet"} {"concept_id": "C4021888", "aliases": [], "types": ["T190"], "canonical_name": "Absent stapes head"} {"concept_id": "C4021889", "aliases": [], "types": ["T033"], "canonical_name": "Shortened outer dynein arms"} {"concept_id": "C4021890", "aliases": [], "types": ["T190"], "canonical_name": "Shortened inner dynein arms"} {"concept_id": "C4021891", "aliases": [], "types": ["T033"], "canonical_name": "Absent/shortened dynein arms"} {"concept_id": "C4021892", "aliases": ["Missing fifth toenail", "Absent fifth toenail"], "types": ["T190"], "canonical_name": "Absent fifth toenail"} {"concept_id": "C4021893", "aliases": [], "types": ["T033"], "canonical_name": "Nonprogressive visual loss"} {"concept_id": "C4021894", "aliases": [], "types": ["T033"], "canonical_name": "Ribbonlike corneal degeneration"} {"concept_id": "C4021896", "aliases": [], "types": ["T190"], "canonical_name": "Foot monodactyly"} {"concept_id": "C4021897", "aliases": ["Bracket shaped end part of long bone of hand"], "types": ["T190"], "canonical_name": "Bracket metacarpal epiphyses"} {"concept_id": "C4021898", "aliases": [], "types": ["T190"], "canonical_name": "Upper limb hypertonia", "definition": "Increased muscle tone observed in the arms of the affected person. [ORCID:0000-0002-6670-9157, PMID:21642056]"} {"concept_id": "C4021899", "aliases": [], "types": ["T049"], "canonical_name": "Premature chromatid separation", "definition": "The presence of premature sister chromatid segregation. [HPO:probinson]"} {"concept_id": "C4021900", "aliases": [], "types": ["T190"], "canonical_name": "Symmetric great toe depigmentation"} {"concept_id": "C4021901", "aliases": ["Tumor of fatty tissue", "Tumour of fatty tissue"], "types": ["T191"], "canonical_name": "Neoplasm of fatty tissue", "definition": "A tumor (abnormal growth of tissue) of adipose tissue. [HPO:sdoelken]"} {"concept_id": "C4021902", "aliases": [], "types": ["T190"], "canonical_name": "Short corpus callosum"} {"concept_id": "C4021903", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal length of corpus callosum"} {"concept_id": "C4021904", "aliases": ["Abnormal size of the opening between the eyelids"], "types": ["T190"], "canonical_name": "Abnormal size of the palpebral fissures", "definition": "An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. [HPO:sdoelken]"} {"concept_id": "C4021905", "aliases": ["Abnormal morphology of the palpebral fissure", "Abnormal shape of the opening between the eyelids"], "types": ["T190"], "canonical_name": "Abnormal shape of the palpebral fissure", "definition": "The presence of an abnormal shape of the palpebral fissure. [HPO:probinson]"} {"concept_id": "C4021906", "aliases": ["Splayed end part of bone"], "types": ["T190"], "canonical_name": "Splayed epiphyses", "definition": "Flaring (widening) of the epiphysis. [HPO:probinson]"} {"concept_id": "C4021907", "aliases": [], "types": ["T033"], "canonical_name": "Dysharmonic accelerated bone age", "definition": "A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones. [HPO:probinson]"} {"concept_id": "C4021908", "aliases": [], "types": ["T190"], "canonical_name": "Enlarged hippocampus", "definition": "Increase in size of the hippocampus. [HPO:probinson]"} {"concept_id": "C4021909", "aliases": ["Cerebral lateral ventricular asymmetry", "Asymmetric ventricles", "Asymmetric lateral ventricles"], "types": ["T190"], "canonical_name": "Lateral ventricular asymmetry", "definition": "Abnormal difference in size between the left and right lateral cerebral ventricles. [ORCID:0000-0002-6670-9157, PMID:18253688, PMID:2257506]"} {"concept_id": "C4021910", "aliases": [], "types": ["T190"], "canonical_name": "Narrow foramen obturatorium", "definition": "Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis. [HPO:probinson]"} {"concept_id": "C4021911", "aliases": ["Abnormality of the renal medulla"], "types": ["T190"], "canonical_name": "Abnormal renal medulla morphology", "definition": "Any structural abnormality of the medulla of the kidney. [HPO:probinson, PMID:22343825]"} {"concept_id": "C4021912", "aliases": [], "types": ["T190"], "canonical_name": "Giant cell granuloma of mandible"} {"concept_id": "C4021913", "aliases": ["Increased bone density in the 1st long bone of foot"], "types": ["T047"], "canonical_name": "Sclerosis of the 1st metatarsal"} {"concept_id": "C4021914", "aliases": ["Increased bone density in the outermost bone of the big toe"], "types": ["T190"], "canonical_name": "Sclerosis of the distal phalanx of the hallux"} {"concept_id": "C4021915", "aliases": ["Increased bone density in the innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Sclerosis of the proximal phalanx of the hallux"} {"concept_id": "C4021916", "aliases": ["Increased bone density in the outermost bone of the little toe", "Increased bone density in the outermost bone of the pinky toe", "Increased bone density in the outermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Sclerosis of the distal phalanx of the 5th toe"} {"concept_id": "C4021917", "aliases": ["Increased bone density in the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Sclerosis of the distal phalanx of the 4th toe"} {"concept_id": "C4021918", "aliases": ["Increased bone density in the outermost bone of the 3rd toe"], "types": ["T046"], "canonical_name": "Sclerosis of the distal phalanx of the 3rd toe", "definition": "An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4021919", "aliases": ["Increased bone density in the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Sclerosis of the distal phalanx of the 2nd toe"} {"concept_id": "C4021920", "aliases": ["Increased bone density in the middle bone of the pinky toe", "Increased bone density in the middle bone of the pinkie toe", "Increased bone density in the middle bone of the little toe"], "types": ["T046"], "canonical_name": "Sclerosis of the middle phalanx of the 5th toe"} {"concept_id": "C4021921", "aliases": ["Increased bone density in the middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Sclerosis of the middle phalanx of the 4th toe"} {"concept_id": "C4021922", "aliases": ["Increased bone density in the middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Sclerosis of the middle phalanx of the 3rd toe", "definition": "An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4021923", "aliases": ["Increased bone density in the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Sclerosis of the middle phalanx of the 2nd toe"} {"concept_id": "C4021924", "aliases": ["Increased bone density in the innermost bone of the pinkie toe", "Increased bone density in the innermost bone of the little toe", "Increased bone density in the innermost bone of the pinky toe"], "types": ["T190"], "canonical_name": "Sclerosis of the proximal phalanx of the 5th toe"} {"concept_id": "C4021925", "aliases": ["Increased bone density in the innermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Sclerosis of the proximal phalanx of the 4th toe"} {"concept_id": "C4021926", "aliases": ["Increased bone density in the innermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Sclerosis of the proximal phalanx of the 3rd toe", "definition": "An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4021927", "aliases": ["Increased bone density in the innermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Sclerosis of the proximal phalanx of the 2nd toe", "definition": "An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4021928", "aliases": ["Increased bone density in 1st long bone of hand"], "types": ["T047"], "canonical_name": "Sclerosis of the 1st metacarpal"} {"concept_id": "C4021929", "aliases": ["Increased bone density in the innermost bone of the thumb"], "types": ["T190"], "canonical_name": "Sclerosis of the proximal phalanx of the thumb", "definition": "An elevation of bone density in the proximal phalanx of the thumb. [HPO:probinson]"} {"concept_id": "C4021930", "aliases": ["Increased bone density in the outermost bone of the thumb"], "types": ["T190"], "canonical_name": "Sclerosis of the distal phalanx of the thumb", "definition": "An elevation of bone density in the distal phalanx of the thumb. [HPO:probinson]"} {"concept_id": "C4021931", "aliases": ["Increased bone density in innermost pinky finger bone", "Increased bone density in innermost little finger bone", "Increased bone density in innermost pinkie finger bone"], "types": ["T046"], "canonical_name": "Sclerosis of the proximal phalanx of the 5th finger"} {"concept_id": "C4021932", "aliases": ["Increased bone density in the innermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Sclerosis of the proximal phalanx of the 4th finger"} {"concept_id": "C4021933", "aliases": ["Increased bone density in innermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Sclerosis of the proximal phalanx of the 3rd finger"} {"concept_id": "C4021934", "aliases": ["Increased bone density in the innermost bone of the index finger"], "types": ["T190"], "canonical_name": "Sclerosis of the proximal phalanx of the 2nd finger"} {"concept_id": "C4021935", "aliases": ["Increased bone density in the middle bone of the pinky finger", "Increased bone density in the middle bone of the pinkie finger", "Increased bone density in the middle bone of the little finger"], "types": ["T190"], "canonical_name": "Sclerosis of the middle phalanx of the 5th finger"} {"concept_id": "C4021936", "aliases": ["Increased bone density in the middle bone of the ring finger"], "types": ["T190"], "canonical_name": "Sclerosis of the middle phalanx of the 4th finger"} {"concept_id": "C4021937", "aliases": ["Increased bone density in the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Sclerosis of the middle phalanx of the 3rd finger"} {"concept_id": "C4021938", "aliases": ["Increased bone density in the middle bone of the index finger"], "types": ["T190"], "canonical_name": "Sclerosis of the middle phalanx of the 2nd finger"} {"concept_id": "C4021939", "aliases": ["Increased bone density in the outermost pinky finger bone", "Increased bone density in the outermost pinkie finger bone", "Increased bone density in the outermost little finger bone"], "types": ["T190"], "canonical_name": "Sclerosis of the distal phalanx of the 5th finger"} {"concept_id": "C4021940", "aliases": ["Increased bone density in the outermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Sclerosis of the distal phalanx of the 4th finger"} {"concept_id": "C4021941", "aliases": ["Increased bone density in the outermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Sclerosis of the distal phalanx of the 3rd finger"} {"concept_id": "C4021942", "aliases": ["Increased bone density in the outermost bone of the index finger"], "types": ["T046"], "canonical_name": "Sclerosis of the distal phalanx of the 2nd finger"} {"concept_id": "C4021943", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the xiphoid process", "definition": "An abnormality of the xiphoid process of the sternum. [HPO:sdoelken]"} {"concept_id": "C4021944", "aliases": [], "types": ["T033"], "canonical_name": "Interdigital loops"} {"concept_id": "C4021945", "aliases": ["Abnormality of eyeball size", "Eye size difference"], "types": ["T190"], "canonical_name": "Abnormality of globe size", "definition": "An abnormality in the size of the ocular globe (eyeball). [HPO:sdoelken]"} {"concept_id": "C4021946", "aliases": ["Abnormality of globe position", "Abnormality of eyeball position", "Abnormality of eyeball location"], "types": ["T190"], "canonical_name": "Abnormality of globe location", "definition": "An abnormality in the placement of the ocular globe (eyeball). [HPO:sdoelken]"} {"concept_id": "C4021947", "aliases": ["Hemiglossal hypertrophy", "Hypertrophy of half of the tongue", "Increased size of half of the tongue", "Large half of tongue"], "types": ["T033"], "canonical_name": "Hemimacroglossia", "definition": "Increased length and width of one half of the tounge. [HPO:sdoelken]"} {"concept_id": "C4021948", "aliases": ["Abnormality of the palm"], "types": ["T190"], "canonical_name": "Abnormality of the palm", "definition": "An abnormality of the palm, that is, of the front of the hand. [HPO:probinson]"} {"concept_id": "C4021949", "aliases": ["Absent neck of thighbone"], "types": ["T190"], "canonical_name": "Aplasia of the femoral neck"} {"concept_id": "C4021950", "aliases": ["Absent femoral head"], "types": ["T033"], "canonical_name": "Aplasia of the femoral head"} {"concept_id": "C4021952", "aliases": [], "types": ["T033"], "canonical_name": "Flat sella turcica", "definition": "An abnormally flat sella turcica. [HPO:sdoelken]"} {"concept_id": "C4021953", "aliases": [], "types": ["T033"], "canonical_name": "Poorly ossified vertebrae", "definition": "Decreased ossification of the vertebral bodies. [HPO:sdoelken]"} {"concept_id": "C4021954", "aliases": ["Small triceps", "Underdeveloped triceps"], "types": ["T190"], "canonical_name": "Triceps hypoplasia", "definition": "Hypoplasia of the triceps muscle. [HPO:sdoelken]"} {"concept_id": "C4021955", "aliases": ["Absent musculature"], "types": ["T033"], "canonical_name": "Aplasia of the musculature", "definition": "Absence of the musculature. [HPO:sdoelken]"} {"concept_id": "C4021956", "aliases": ["Agenesis of eyebrow", "Hypotrophic eyebrow"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the eyebrow", "definition": "Absence or underdevelopment of the eyebrow. [HPO:probinson]"} {"concept_id": "C4021957", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent cutaneous abscess formation", "definition": "An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. [HPO:probinson]"} {"concept_id": "C4021958", "aliases": ["Abnormality of vitamin K metabolism"], "types": ["T033"], "canonical_name": "Abnormality of vitamin K metabolism", "definition": "Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. [HPO:probinson]"} {"concept_id": "C4021959", "aliases": ["Round ear"], "types": ["T190"], "canonical_name": "Round ear"} {"concept_id": "C4021960", "aliases": ["Increase in T cell number", "Increase in T cell count"], "types": ["T033"], "canonical_name": "Increased T cell count", "definition": "An abnormal increase in the total number of T cells detected in the blood. []"} {"concept_id": "C4021961", "aliases": ["Nail tumour", "Nail tumor"], "types": ["T191"], "canonical_name": "Neoplasm of the nail", "definition": "A tumor (abnormal growth of tissue) of the nail. [HPO:probinson]"} {"concept_id": "C4021962", "aliases": [], "types": ["T019"], "canonical_name": "Genital hernia"} {"concept_id": "C4021963", "aliases": ["Hyperpigmentation of lip vermillion", "Increased pigmentation on the lips", "Darkening of skin of the lips"], "types": ["T190"], "canonical_name": "Lip hyperpigmentation"} {"concept_id": "C4021964", "aliases": ["Absent/small colon", "Absent/underdeveloped colon"], "types": ["T019"], "canonical_name": "Aplasia/Hypoplasia of the colon", "definition": "Congenital absence or underdevelopment of the colon. [HPO:probinson]"} {"concept_id": "C4021966", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the periungual region", "definition": "An abnormality of the region around the nails of the fingers or toes. [HPO:probinson]"} {"concept_id": "C4021967", "aliases": ["Absent pancreas"], "types": ["T033"], "canonical_name": "Pancreatic aplasia", "definition": "Aplasia of the pancreas. [HPO:sdoelken]"} {"concept_id": "C4021968", "aliases": ["Absent/small pancreas", "Absent/underdeveloped pancreas"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the pancreas", "definition": "A congenital underdevelopment (aplasia or hypoplasia) of the pancreas. [HPO:sdoelken]"} {"concept_id": "C4021969", "aliases": ["Abnormally straight spine"], "types": ["T190"], "canonical_name": "Abnormally straight spine", "definition": "The absence of the normal curvature of the vertebral column. [HPO:sdoelken]"} {"concept_id": "C4021970", "aliases": ["Adhesion of upper and lower lips", "Fusion of upper and lower lips", "Fused lips"], "types": ["T190"], "canonical_name": "Fused lips", "definition": "Lack of separation of the upper and lower lips. [HPO:probinson]"} {"concept_id": "C4021971", "aliases": [], "types": ["T190"], "canonical_name": "Peripheral arteriovenous fistula"} {"concept_id": "C4021972", "aliases": [], "types": ["T190"], "canonical_name": "Urogenital sinus anomaly", "definition": "A rare birth defect in women where the urethra and vagina both open into a common channel. [HPO:curators]"} {"concept_id": "C4021973", "aliases": ["Cartilage destruction"], "types": ["T046"], "canonical_name": "Cartilage destruction"} {"concept_id": "C4021974", "aliases": ["Abnormality of the lymphatic vessels"], "types": ["T190"], "canonical_name": "Abnormal lymphatic vessel morphology", "definition": "A structural anomaly of the vessel that contains or conveys lymph fluid. [https://en.wikipedia.org/wiki/Lymphatic_vessel]"} {"concept_id": "C4021975", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the tonsils", "definition": "An abnormality of the tonsils. [HPO:probinson]"} {"concept_id": "C4021976", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the lymphatic system", "definition": "An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. [HPO:probinson]"} {"concept_id": "C4021977", "aliases": [], "types": ["T047"], "canonical_name": "Visceral angiomatosis"} {"concept_id": "C4021978", "aliases": ["Abnormal spit", "Abnormality of salivation"], "types": ["T033"], "canonical_name": "Abnormality of salivation"} {"concept_id": "C4021979", "aliases": ["Muscular oedema"], "types": ["T190"], "canonical_name": "Muscular edema"} {"concept_id": "C4021980", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the humeroulnar joint", "definition": "An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint. [HPO:probinson]"} {"concept_id": "C4021981", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the humeroradial joint"} {"concept_id": "C4021982", "aliases": ["Abnormal eating behavior", "Abnormal eating behaviour"], "types": ["T048"], "canonical_name": "Abnormal eating behavior", "definition": "Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. []"} {"concept_id": "C4021983", "aliases": ["Abnormality of the hard palate", "Abnormality of the secondary palate"], "types": ["T190"], "canonical_name": "Abnormal hard palate morphology"} {"concept_id": "C4021984", "aliases": ["Abnormality of the muscular palate", "Abnormality of the velum", "Abnormality of the soft palate", "Abnormality of the velum palatinum"], "types": ["T190"], "canonical_name": "Abnormal soft palate morphology", "definition": "An abnormality of the soft palate. [HPO:probinson]"} {"concept_id": "C4021985", "aliases": [], "types": ["T191"], "canonical_name": "Germ cell neoplasia"} {"concept_id": "C4021986", "aliases": ["Underdeveloped ear cartilage"], "types": ["T033"], "canonical_name": "Hypoplasia of the ear cartilage"} {"concept_id": "C4021987", "aliases": ["Abnormality of the cementum"], "types": ["T190"], "canonical_name": "Abnormal cementum morphology", "definition": "Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root). [PMID:31468724]"} {"concept_id": "C4021988", "aliases": ["Abnormality of the lumbar spine"], "types": ["T190"], "canonical_name": "Abnormal lumbar spine morphology", "definition": "Any structural abnormality of the lumbar vertebral column. [HPO:probinson]"} {"concept_id": "C4021989", "aliases": ["Abnormality of the thoracic spine"], "types": ["T190"], "canonical_name": "Abnormal thoracic spine morphology", "definition": "An abnormality of the thoracic vertebral column. [HPO:probinson]"} {"concept_id": "C4021990", "aliases": ["Abnormality of the microglia"], "types": ["T033"], "canonical_name": "Abnormal microglia morphology", "definition": "An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells. [HPO:probinson]"} {"concept_id": "C4021991", "aliases": ["Abnormality of the astrocytes"], "types": ["T033"], "canonical_name": "Abnormal astrocyte morphology", "definition": "An abnormality of astrocytes. [HPO:probinson]"} {"concept_id": "C4021992", "aliases": ["Abnormality of the oligodendroglia"], "types": ["T033"], "canonical_name": "Abnormal oligodendroglia morphology", "definition": "One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers. [HPO:sdoelken]"} {"concept_id": "C4021993", "aliases": ["Abnormality of the glial cells"], "types": ["T033"], "canonical_name": "Abnormal glial cell morphology", "definition": "An abnormality of the glia cell. [HPO:probinson]"} {"concept_id": "C4021994", "aliases": ["Abnormality of the pia mater"], "types": ["T190"], "canonical_name": "Abnormal pia mater", "definition": "An abnormality of the pia mater. [HPO:sdoelken]"} {"concept_id": "C4021995", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the curvature of the cornea"} {"concept_id": "C4021996", "aliases": [], "types": ["T047"], "canonical_name": "Mosaic central corneal dystrophy"} {"concept_id": "C4021997", "aliases": ["Abnormality of Sharpey fibers", "Abnormality of Sharpey fibres", "Abnormal Sharpey fibre morphology"], "types": ["T190"], "canonical_name": "Abnormal Sharpey fiber morphology", "definition": "An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. [HPO:probinson]"} {"concept_id": "C4021998", "aliases": [], "types": ["T033"], "canonical_name": "Lack of skin elasticity"} {"concept_id": "C4021999", "aliases": [], "types": ["T190"], "canonical_name": "Vaginal lymphocele"} {"concept_id": "C4022000", "aliases": [], "types": ["T190"], "canonical_name": "Vaginal pyocele"} {"concept_id": "C4022001", "aliases": ["Abnormality of the cerebral vasculature", "Abnormality of the cerebral blood vessels"], "types": ["T190"], "canonical_name": "Abnormal cerebral vascular morphology", "definition": "An anomaly of the cerebral blood vessels. [PMID:30335330]"} {"concept_id": "C4022002", "aliases": ["Thoracoabdominal schisis"], "types": ["T019"], "canonical_name": "Thoracoabdominal wall defect", "definition": "Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development. []"} {"concept_id": "C4022004", "aliases": [], "types": ["T191"], "canonical_name": "Pulmonary paraglioma", "definition": "A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells. [PMID:26215714]"} {"concept_id": "C4022005", "aliases": [], "types": ["T191"], "canonical_name": "Carotid paraganglioma", "definition": "A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery. [HPO:probinson]"} {"concept_id": "C4022007", "aliases": ["Midline facial cleft"], "types": ["T019"], "canonical_name": "Midline facial cleft", "definition": "A congenital malformation with a cleft (gap or opening) in the midline of the face. [HPO:probinson]"} {"concept_id": "C4022008", "aliases": [], "types": ["T047"], "canonical_name": "Corpus cavernosum sclerosis"} {"concept_id": "C4022009", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of corpus cavernosum"} {"concept_id": "C4022010", "aliases": ["Maternal seizures"], "types": ["T047"], "canonical_name": "Maternal seizure", "definition": "A seizure during pregnancy. [PMID:25746572]"} {"concept_id": "C4022011", "aliases": [], "types": ["T191"], "canonical_name": "Leydig cell neoplasia", "definition": "The presence of a neoplasm of the testis with origin in a Leydig cell. [HPO:probinson]"} {"concept_id": "C4022012", "aliases": ["Death in early adulthood"], "types": ["T033"], "canonical_name": "Death in early adulthood", "definition": "Death between the age of 16 and 40 years. [HPO:probinson]"} {"concept_id": "C4022013", "aliases": [], "types": ["T046"], "canonical_name": "Multiple glomerular cysts", "definition": "The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. [Eurenomics:fschaefer, PMID:20091054, PMID:20367310]"} {"concept_id": "C4022014", "aliases": ["Maternal hyperphenylalaninemia"], "types": ["T033"], "definition": "A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy. [HPO:probinson]", "canonical_name": "High blood phenylalanine level in mother"} {"concept_id": "C4022015", "aliases": [], "types": ["T046"], "canonical_name": "Calcification of cartilage"} {"concept_id": "C4022016", "aliases": ["Abnormality of the preputium"], "types": ["T190"], "canonical_name": "Abnormal preputium morphology", "definition": "An abnormality of the retractable fold of skin that covers the tip of the penis. []"} {"concept_id": "C4022018", "aliases": ["Teleangiectasia of the skin"], "types": ["T033"], "definition": "Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. [HPO:probinson]", "canonical_name": "Telangiectasia of the skin"} {"concept_id": "C4022019", "aliases": [], "types": ["T047"], "canonical_name": "Megacalicosis"} {"concept_id": "C4022020", "aliases": [], "types": ["T190"], "canonical_name": "Mucosal telangiectasiae", "definition": "Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. [HPO:sdoelken]"} {"concept_id": "C4022021", "aliases": [], "types": ["T190"], "canonical_name": "Muscular cardiac diverticulum"} {"concept_id": "C4022022", "aliases": ["Triplication of spinal cord"], "types": ["T047"], "canonical_name": "Triplomyelia", "definition": "Triplication of the spinal cord - extremely rare. [HPO:sdoelken]"} {"concept_id": "C4022023", "aliases": [], "types": ["T190"], "canonical_name": "Diastomatomyelia", "definition": "Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum. [HPO:sdoelken]"} {"concept_id": "C4022024", "aliases": ["Unequal size of arms"], "types": ["T190"], "canonical_name": "Upper limb asymmetry", "definition": "Difference in length or size between the right and left arm. [HPO:probinson]"} {"concept_id": "C4022025", "aliases": ["Uneven or disproportionate growth of one body part compared to another"], "types": ["T033"], "canonical_name": "Asymmetric growth", "definition": "A growth pattern that displays an abnormal difference between the left and the right side. [HPO:probinson]"} {"concept_id": "C4022026", "aliases": [], "types": ["T191"], "canonical_name": "Neoplasm of the tracheobronchial system"} {"concept_id": "C4022027", "aliases": ["Deformity of the supraorbital ridges", "Abnormality of the brow of the face", "Deformity of the supraorbital margins", "Malformation of the supraorbital margins", "Malformation of the supraorbital ridges"], "types": ["T190"], "canonical_name": "Abnormality of the supraorbital ridges", "definition": "An anomaly of the supraorbital portion of the frontal bones. [HPO:probinson]"} {"concept_id": "C4022028", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the fascia", "definition": "An abnormality of fascia. [HPO:probinson]"} {"concept_id": "C4022029", "aliases": [], "types": ["T190"], "canonical_name": "Tibiofibular diastasis"} {"concept_id": "C4022030", "aliases": ["Wind-swept deformity of the knees"], "types": ["T190"], "canonical_name": "Wind-swept deformity of the knees", "definition": "The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. [HPO:sdoelken]"} {"concept_id": "C4022032", "aliases": ["Abnormality of phosphate homeostasis"], "types": ["T033"], "canonical_name": "Abnormal blood phosphate concentration", "definition": "An abnormality of phosphate homeostasis or concentration in the body. [HPO:probinson]"} {"concept_id": "C4022033", "aliases": [], "types": ["T191"], "canonical_name": "Neoplasia of the pleura"} {"concept_id": "C4022034", "aliases": ["Abnormality of vitamin E metabolism"], "types": ["T033"], "canonical_name": "Abnormality of vitamin E metabolism"} {"concept_id": "C4022035", "aliases": ["Abnormality of vitamin D metabolism"], "types": ["T033"], "canonical_name": "Abnormality of vitamin D metabolism"} {"concept_id": "C4022036", "aliases": ["Abnormality of vitamin metabolism"], "types": ["T033"], "canonical_name": "Abnormality of vitamin metabolism", "definition": "An anomaly in the metabolism of a vitamin. [HPO:probinson]"} {"concept_id": "C4022037", "aliases": ["Vitamin B8 deficiency"], "types": ["T033"], "canonical_name": "Low levels of vitamin B8", "definition": "A reduced concentration of vitamin B8. []"} {"concept_id": "C4022038", "aliases": ["Vitamin B5 deficiency"], "types": ["T033"], "canonical_name": "Low levels of vitamin B5", "definition": "A reduced concentration of vitamin B5. []"} {"concept_id": "C4022039", "aliases": [], "types": ["T190"], "canonical_name": "Deviation of toes"} {"concept_id": "C4022040", "aliases": ["Abnormality of the vitamin B3 metabolism"], "types": ["T033"], "canonical_name": "Abnormality of the vitamin B3 metabolism"} {"concept_id": "C4022041", "aliases": [], "types": ["T047"], "canonical_name": "Hypoammonemia", "definition": "A decreased concentration of ammonia in the blood. [HPO:gcarletti]"} {"concept_id": "C4022042", "aliases": [], "types": ["T033"], "canonical_name": "Joint contractures involving the joints of the feet", "definition": "Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue. [HPO:sdoelken]"} {"concept_id": "C4022043", "aliases": ["Fusion of the innermost big toe bone with the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Synostosis of the proximal phalanx of the hallux with the 1st metatarsal"} {"concept_id": "C4022044", "aliases": ["Triangular shaped outermost bone of the pinkie toe", "Triangular shaped outermost bone of the little toe", "Triangular shaped outermost bone of the pinky toe"], "types": ["T190"], "canonical_name": "Triangular shaped distal phalanx of the 5th toe"} {"concept_id": "C4022045", "aliases": ["Fused innermost pinky toe bone with the 5th long bone of foot"], "types": ["T190"], "canonical_name": "Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal"} {"concept_id": "C4022046", "aliases": ["Fused innermost bone of the 4th toe with 4th long bone of foot"], "types": ["T190"], "canonical_name": "Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal"} {"concept_id": "C4022047", "aliases": ["Fused innermost bones of third toe with 3rd long bone of foot"], "types": ["T190"], "canonical_name": "Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal"} {"concept_id": "C4022048", "aliases": ["Fused innermost bone of 2nd toe with the 2nd long bone of foot"], "types": ["T190"], "canonical_name": "Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal"} {"concept_id": "C4022049", "aliases": ["Fused outermost bones of the little toe", "Fused outermost bones of the pinky toe", "Fused outermost bones of the pinkie toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the distal phalanx of the 5th toe"} {"concept_id": "C4022050", "aliases": ["Fused outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the distal phalanx of the 4th toe"} {"concept_id": "C4022051", "aliases": ["Fused outermost bone of 3rd toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the distal phalanx of the 3rd toe"} {"concept_id": "C4022052", "aliases": ["Fused innermost bone of pinky toe", "Fused innermost bone of little toe", "Fused innermost bone of pinkie toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the proximal phalanx of the 5th toe"} {"concept_id": "C4022053", "aliases": ["Fused innermost bones of 4th toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the proximal phalanx of the 4th toe"} {"concept_id": "C4022054", "aliases": ["Fused innermost bone of 3rd toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the proximal phalanx of the 3rd toe"} {"concept_id": "C4022055", "aliases": ["Fused middle bones of 5th toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the middle phalanx of the 5th toe"} {"concept_id": "C4022056", "aliases": ["Fused middle bones of 4th toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the middle phalanx of the 4th toe"} {"concept_id": "C4022057", "aliases": ["Fused middle bones of 3rd toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the middle phalanx of the 3rd toe"} {"concept_id": "C4022058", "aliases": ["Uneven increase in bone density in the outermost pinkie toe bone", "Uneven increase in bone density in the outermost little toe bone", "Uneven increase in bone density in the outermost pinky toe bone"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the distal phalanx of the 5th toe", "definition": "Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4022059", "aliases": ["Uneven increase in bone density in the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the distal phalanx of the 4th toe", "definition": "Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4022060", "aliases": ["Uneven increase in bone density in the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the distal phalanx of the 3rd toe"} {"concept_id": "C4022061", "aliases": ["Uneven increase in bone density in the innermost bone of the pinkie toe", "Uneven increase in bone density in the innermost bone of the little toe", "Uneven increase in bone density in the innermost bone of the pinky toe"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the proximal phalanx of the 5th toe", "definition": "Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4022062", "aliases": ["Uneven increase in bone density in the innermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the proximal phalanx of the 4th toe", "definition": "Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4022063", "aliases": ["Uneven increase in bone density in the innermost bone of the 3rd toe"], "types": ["T033"], "canonical_name": "Patchy sclerosis of the proximal phalanx of the 3rd toe"} {"concept_id": "C4022064", "aliases": ["Uneven increase in bone density in the middle bone of the pinkie toe", "Uneven increase in bone density in the middle bone of the little toe", "Uneven increase in bone density in the middle bone of the pinky toe"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the middle phalanx of the 5th toe", "definition": "Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4022065", "aliases": ["Uneven increase in bone density in middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the middle phalanx of the 4th toe", "definition": "Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]"} {"concept_id": "C4022066", "aliases": ["Uneven increase in bone density in the middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the middle phalanx of the 3rd toe"} {"concept_id": "C4022067", "aliases": ["Osteolytic defects of the outermost bone of the 5th toe"], "types": ["T190"], "canonical_name": "Osteolytic defects of the distal phalanx of the 5th toe"} {"concept_id": "C4022068", "aliases": ["Osteolytic defects of the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Osteolytic defects of the distal phalanx of the 4th toe"} {"concept_id": "C4022069", "aliases": ["Osteolytic defects of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Osteolytic defects of the distal phalanx of the 3rd toe"} {"concept_id": "C4022070", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the proximal phalanx of the 5th toe"} {"concept_id": "C4022071", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the proximal phalanx of the 4th toe"} {"concept_id": "C4022072", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the proximal phalanx of the 3rd toe"} {"concept_id": "C4022073", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the middle phalanx of the 5th toe"} {"concept_id": "C4022074", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the middle phalanx of the 4th toe"} {"concept_id": "C4022075", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the middle phalanx of the 3rd toe"} {"concept_id": "C4022076", "aliases": ["Curved outermost bone of the little toe", "Curved outermost bone of the pinkie toe", "Curved outermost bone of the pinky toe"], "types": ["T190"], "canonical_name": "Curved distal phalanx of the 5th toe", "definition": "A deviation from the normal straight form of the distal phalanx of the fifth toe. [HPO:probinson]"} {"concept_id": "C4022077", "aliases": ["Curved outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Curved distal phalanx of the 4th toe", "definition": "A deviation from the normal straight form of the distal phalanx of the fourth toe. [HPO:probinson]"} {"concept_id": "C4022078", "aliases": ["Curved outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Curved distal phalanx of the 3rd toe", "definition": "A deviation from the normal straight form of the distal phalanx of the third toe. [HPO:probinson]"} {"concept_id": "C4022079", "aliases": ["Curved innermost pinky toe bone", "Curved innermost little toe bone", "Curved innermost pinkie toe bone"], "types": ["T190"], "canonical_name": "Curved proximal phalanx of the 5th toe", "definition": "A deviation from the normal straight form of the proximal phalanx of the fifth toe. [HPO:probinson]"} {"concept_id": "C4022080", "aliases": ["Curved innermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Curved proximal phalanx of the 4th toe", "definition": "A deviation from the normal straight form of the proximal phalanx of the fourth toe. [HPO:probinson]"} {"concept_id": "C4022081", "aliases": ["Curved innermost bone of 3rd toe"], "types": ["T190"], "canonical_name": "Curved proximal phalanx of the 3rd toe", "definition": "A deviation from the normal straight form of the proximal phalanx of the third toe. [HPO:probinson]"} {"concept_id": "C4022082", "aliases": ["Curved middle bone of little toe", "Curved middle bone of pinky toe", "Curved middle bone of pinkie toe"], "types": ["T190"], "canonical_name": "Curved middle phalanx of the 5th toe", "definition": "A deviation from the normal straight form of the middle phalanx of the fifth toe. [HPO:probinson]"} {"concept_id": "C4022083", "aliases": ["Curved middle bone of 4th toe"], "types": ["T190"], "canonical_name": "Curved middle phalanx of the 4th toe", "definition": "A deviation from the normal straight form of the middle phalanx of the fourth toe. [HPO:probinson]"} {"concept_id": "C4022084", "aliases": ["Curved middle bone of 3rd toe"], "types": ["T190"], "canonical_name": "Curved middle phalanx of the 3rd toe", "definition": "A deviation from the normal straight form of the middle phalanx of the third toe. [HPO:probinson]"} {"concept_id": "C4022085", "aliases": ["Bullet-shaped outermost bone of the little toe", "Bullet-shaped outermost bone of the pinky toe", "Bullet-shaped outermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Bullet-shaped distal phalanx of the 5th toe", "definition": "An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4022086", "aliases": ["Bullet-shaped outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Bullet-shaped distal phalanx of the 4th toe", "definition": "An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4022087", "aliases": ["Bullet-shaped outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Bullet-shaped distal phalanx of the 3rd toe", "definition": "An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4022088", "aliases": ["Bullet-shaped innermost bone of pinkie toe", "Bullet-shaped innermost bone of little toe", "Bullet-shaped innermost bone of pinky toe"], "types": ["T190"], "canonical_name": "Bullet-shaped proximal phalanx of the 5th toe", "definition": "An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4022089", "aliases": ["Bullet-shaped proximal bone of the 4th toe"], "types": ["T190"], "canonical_name": "Bullet-shaped proximal phalanx of the 4th toe", "definition": "An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4022090", "aliases": ["Bullet-shaped proximal bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Bullet-shaped proximal phalanx of the 3rd toe", "definition": "An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4022091", "aliases": ["Bullet-shaped middle bone of the pinkie toe", "Bullet-shaped middle bone of the little toe", "Bullet-shaped middle bone of the pinky toe"], "types": ["T190"], "canonical_name": "Bullet-shaped middle phalanx of the 5th toe", "definition": "An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4022092", "aliases": ["Bullet-shaped middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Bullet-shaped middle phalanx of the 4th toe", "definition": "An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4022093", "aliases": ["Bullet-shaped middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Bullet-shaped middle phalanx of the 3rd toe", "definition": "An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4022094", "aliases": ["Wide outermost bone of the pinky toe", "Broad outermost bone of the 5th toe", "Wide outermost bone of the pinkie toe", "Wide outermost bone of the little toe"], "types": ["T190"], "canonical_name": "Broad distal phalanx of the 5th toe"} {"concept_id": "C4022095", "aliases": ["Broad outermost bone of the 4th toe", "Wide outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Broad distal phalanx of the 4th toe"} {"concept_id": "C4022096", "aliases": ["Wide outermost bone of the 3rd toe", "Broad outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Broad distal phalanx of the 3rd toe"} {"concept_id": "C4022097", "aliases": ["Broad innermost bone of the pinky toe", "Broad innermost bone of the pinkie toe", "Broad innermost bone of the little toe"], "types": ["T190"], "canonical_name": "Broad proximal phalanx of the 5th toe"} {"concept_id": "C4022098", "aliases": ["Wide innermost bone of 4th toe"], "types": ["T190"], "canonical_name": "Broad proximal phalanx of the 4th toe"} {"concept_id": "C4022099", "aliases": ["Wide innermost bone of 3rd toe"], "types": ["T190"], "canonical_name": "Broad proximal phalanx of the 3rd toe"} {"concept_id": "C4022100", "aliases": ["Broad middle bone of the little toe", "Broad middle bone of the pinky toe", "Broad middle bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Broad middle phalanx of the 5th toe"} {"concept_id": "C4022101", "aliases": ["Broad middle 4th toe bone"], "types": ["T190"], "canonical_name": "Broad middle phalanx of the 4th toe"} {"concept_id": "C4022102", "aliases": ["Broad middle 3rd toe bone"], "types": ["T190"], "canonical_name": "Broad middle phalanx of the 3rd toe"} {"concept_id": "C4022103", "aliases": ["Partial duplication of the innermost bone of 4th toe"], "types": ["T190"], "canonical_name": "Partial duplication of the proximal phalanx of the 4th toe"} {"concept_id": "C4022104", "aliases": ["Complete duplication of the innermost 4th toe bone"], "types": ["T190"], "canonical_name": "Complete duplication of the proximal phalanx of the 4th toe"} {"concept_id": "C4022105", "aliases": ["Complete duplication of the innermost 3rd toe bone"], "types": ["T190"], "canonical_name": "Complete duplication of the proximal phalanx of the 3rd toe", "definition": "Complete duplication of proximal phalanx of third toe. [HPO:sdoelken]"} {"concept_id": "C4022106", "aliases": ["Absent innermost toe bones"], "types": ["T033"], "canonical_name": "Aplasia of the proximal phalanges of the toes"} {"concept_id": "C4022107", "aliases": ["Absent middle toe bones"], "types": ["T033"], "canonical_name": "Aplasia of the middle phalanges of the toes"} {"concept_id": "C4022108", "aliases": ["Absent innermost bone of the little toe", "Absent innermost bone of the pinky toe", "Absent innermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Aplasia of the proximal phalanx of the 5th toe"} {"concept_id": "C4022109", "aliases": ["Absent innermost bone of the 4th toe"], "types": ["T033"], "canonical_name": "Aplasia of the proximal phalanx of the 4th toe"} {"concept_id": "C4022110", "aliases": ["Absent middle bone of pinky toe", "Absent middle bone of pinkie toe", "Absent middle bone of little toe"], "types": ["T033"], "canonical_name": "Aplasia of the middle phalanx of the 5th toe"} {"concept_id": "C4022111", "aliases": ["Absent middle bone of 4th toe"], "types": ["T190"], "canonical_name": "Aplasia of the middle phalanx of the 4th toe"} {"concept_id": "C4022112", "aliases": ["Absent outermost bone of the pinkie toe", "Absent outermost bone of the little toe", "Absent outermost bone of the pinky toe"], "types": ["T033"], "canonical_name": "Aplasia of the distal phalanx of the 5th toe"} {"concept_id": "C4022113", "aliases": ["Absent distal phalanx of the 4th toe", "Absent outermost bone of the 4th toe"], "types": ["T033"], "canonical_name": "Aplasia of the distal phalanx of the 4th toe"} {"concept_id": "C4022114", "aliases": ["Absent/small innermost little toe bone", "Absent/small innermost pinky toe bone", "Absent/underdeveloped innermost 5th toe bone", "Absent/small innermost pinkie toe bone"], "types": ["T033"], "canonical_name": "Aplasia/hypoplasia of the proximal phalanx of the 5th toe", "definition": "Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe. [HPO:probinson]"} {"concept_id": "C4022115", "aliases": ["Absent/underdeveloped innermost 4th toe bone", "Absent/small innermost 4th toe bone"], "types": ["T190"], "canonical_name": "Aplasia/hypoplasia of the proximal phalanx of the 4th toe", "definition": "Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe. [HPO:probinson]"} {"concept_id": "C4022116", "aliases": ["Absent/small innermost bone of 3rd toe", "Absent/underdeveloped innermost bone of 3rd toe"], "types": ["T033"], "canonical_name": "Aplasia/hypoplasia of the proximal phalanx of the 3rd toe", "definition": "Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe. [HPO:probinson]"} {"concept_id": "C4022117", "aliases": ["Absent/underdeveloped middle bone of little toe", "Absent/small middle 5th toe bone", "Absent/underdeveloped middle bone of pinky toe", "Absent/underdeveloped middle bone of pinkie toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the middle phalanx of the 5th toe"} {"concept_id": "C4022118", "aliases": ["Absent/underdeveloped middle bone of the 4th toe", "Absent/small middle bone of the 4th toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the middle phalanx of the 4th toe"} {"concept_id": "C4022119", "aliases": ["Absent/small middle 3rd toe bone", "Absent/underdeveloped middle 3rd toe bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the middle phalanx of the 3rd toe"} {"concept_id": "C4022120", "aliases": ["Absent/small outermost pinky toe bone", "Absent/underdeveloped outermost pinky toe bone", "Absent/small outermost pinkie toe bone", "Absent/small outermost little toe bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the distal phalanx of the 5th toe"} {"concept_id": "C4022121", "aliases": ["Absent/small outermost bone of 4th toe", "Absent/underdeveloped outermost bone of 4th toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the distal phalanx of the 4th toe"} {"concept_id": "C4022122", "aliases": ["Absent/small outermost 3rd toe bone", "Absent/underdeveloped outermost 3rd toe bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the distal phalanx of the 3rd toe"} {"concept_id": "C4022123", "aliases": ["Absent pinky toe bones", "Absent little toe bones", "Absent pinkie toe bones"], "types": ["T033"], "canonical_name": "Aplasia of the phalanges of the 5th toe"} {"concept_id": "C4022124", "aliases": ["Absent bones of the 4th toe"], "types": ["T190"], "canonical_name": "Aplasia of the phalanges of the 4th toe"} {"concept_id": "C4022125", "aliases": ["Absent digital bone of the 3rd toe"], "types": ["T033"], "canonical_name": "Aplasia of the phalanges of the 3rd toe"} {"concept_id": "C4022126", "aliases": [], "types": ["T190"], "canonical_name": "Contracture of the metatarsophalangeal joint of the 5th toe", "definition": "The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4022127", "aliases": [], "types": ["T190"], "canonical_name": "Contracture of the metatarsophalangeal joint of the 4th toe", "definition": "The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4022128", "aliases": [], "types": ["T190"], "canonical_name": "Contracture of the metatarsophalangeal joint of the 3rd toe", "definition": "The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4022129", "aliases": [], "types": ["T190"], "canonical_name": "Contracture of the metatarsophalangeal joint of the 2nd toe", "definition": "The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4022130", "aliases": ["Contracture of the outermost hinge joint of the 5th toe"], "types": ["T190"], "canonical_name": "Contractures of the distal interphalangeal joint of the 5th toe", "definition": "The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4022131", "aliases": [], "types": ["T190"], "canonical_name": "Contracture of the distal interphalangeal joint of the 4th toe", "definition": "The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4022132", "aliases": [], "types": ["T190"], "canonical_name": "Contracture of the distal interphalangeal joint of the 3rd toe", "definition": "The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4022133", "aliases": [], "types": ["T190"], "canonical_name": "Tibial deviation of the 5th toe"} {"concept_id": "C4022134", "aliases": [], "types": ["T190"], "canonical_name": "Fibular deviation of the 5th toe"} {"concept_id": "C4022135", "aliases": [], "types": ["T190"], "canonical_name": "Tibial deviation of the 2nd toe"} {"concept_id": "C4022136", "aliases": [], "types": ["T190"], "canonical_name": "Fibular deviation of the 2nd toe"} {"concept_id": "C4022137", "aliases": [], "types": ["T190"], "canonical_name": "Tibial deviation of the 3rd toe"} {"concept_id": "C4022138", "aliases": [], "types": ["T190"], "canonical_name": "Fibular deviation of the 3rd toe"} {"concept_id": "C4022139", "aliases": [], "types": ["T190"], "canonical_name": "Tibial deviation of the 4th toe"} {"concept_id": "C4022140", "aliases": [], "types": ["T190"], "canonical_name": "Fibular deviation of the 4th toe"} {"concept_id": "C4022141", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the os naviculare pedis"} {"concept_id": "C4022142", "aliases": ["Paramedian cleft palate"], "types": ["T190"], "canonical_name": "Non-midline cleft palate"} {"concept_id": "C4022143", "aliases": ["One sided cleft palate", "Unilateral palatoschisis"], "types": ["T019"], "canonical_name": "Unilateral cleft palate"} {"concept_id": "C4022144", "aliases": ["Fused bones of the midfoot"], "types": ["T019"], "canonical_name": "Tarsometatarsal synostosis"} {"concept_id": "C4022145", "aliases": ["Fused wrist bones and long bones of hand"], "types": ["T190"], "canonical_name": "Carpometacarpal synostosis", "definition": "Fusion involving carpal and metacarpal bones. [HPO:probinson]"} {"concept_id": "C4022146", "aliases": [], "types": ["T047"], "canonical_name": "Juvenile aseptic necrosis", "definition": "Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers. [HPO:sdoelken]"} {"concept_id": "C4022147", "aliases": ["Absent pyramidal tract"], "types": ["T033"], "canonical_name": "Aplasia of the pyramidal tract"} {"concept_id": "C4022148", "aliases": ["Abnormality of the dentate nucleus"], "types": ["T190"], "canonical_name": "Abnormal dentate nucleus morphology", "definition": "An abnormality of the dentate nucleus. [HPO:probinson]"} {"concept_id": "C4022149", "aliases": [], "types": ["T047"], "canonical_name": "Cerebral inclusion bodies", "definition": "Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. [HPO:probinson]"} {"concept_id": "C4022150", "aliases": [], "types": ["T047"], "canonical_name": "Cerebral granulomatosis", "definition": "Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. [HPO:probinson, PMID:937513]"} {"concept_id": "C4022151", "aliases": [], "types": ["T191"], "canonical_name": "Cerebral germinoma", "definition": "The presence of a germ cell tumor of the cerebrum. [HPO:probinson]"} {"concept_id": "C4022152", "aliases": [], "types": ["T190"], "canonical_name": "Cerebral ventricular adhesions", "definition": "Bands of scar-like tisssue that hve formed within a cerebral ventricle. []"} {"concept_id": "C4022153", "aliases": [], "types": ["T047"], "canonical_name": "Cerebral cortical hemiatrophy", "definition": "Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle. [HPO:probinson]"} {"concept_id": "C4022154", "aliases": [], "types": ["T190"], "canonical_name": "Cerebellar hemisphere hypoplasia"} {"concept_id": "C4022155", "aliases": ["Muscle fibre hyaline bodies"], "types": ["T190"], "canonical_name": "Muscle fiber hyaline bodies"} {"concept_id": "C4022156", "aliases": ["Muscle fibre intranuclear inclusion bodies"], "types": ["T033"], "canonical_name": "Muscle fiber intranuclear inclusion bodies", "definition": "The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. [HPO:probinson]"} {"concept_id": "C4022157", "aliases": ["Muscle fibre cytoplasmatic inclusion bodies", "Muscle fibre cytoplasmic bodies", "Muscle fiber cytoplasmic bodies"], "types": ["T033"], "canonical_name": "Muscle fiber cytoplasmatic inclusion bodies", "definition": "The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. [HPO:probinson]"} {"concept_id": "C4022158", "aliases": [], "types": ["T033"], "canonical_name": "Desmin bodies"} {"concept_id": "C4022159", "aliases": ["Muscle fibre inclusion bodies"], "types": ["T033"], "canonical_name": "Muscle fiber inclusion bodies"} {"concept_id": "C4022160", "aliases": ["Motheaten muscle fibres"], "types": ["T033"], "canonical_name": "Motheaten muscle fibers"} {"concept_id": "C4022161", "aliases": ["Endomysial fibrosis"], "types": ["T033"], "canonical_name": "Increased endomysial connective tissue", "definition": "An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. [PMID:32508678]"} {"concept_id": "C4022162", "aliases": [], "types": ["T047"], "canonical_name": "Amyloidosis of peripheral nerves", "definition": "The presence of amyloid deposition in the nerves of the peripheral nervous system. [HPO:probinson]"} {"concept_id": "C4022163", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of central somatosensory evoked potentials"} {"concept_id": "C4022164", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of peripheral somatosensory evoked potentials"} {"concept_id": "C4022165", "aliases": ["Abnormality of pattern reversal VEP"], "types": ["T190"], "canonical_name": "Abnormality of pattern reversal visual evoked potentials"} {"concept_id": "C4022166", "aliases": [], "types": ["T033"], "canonical_name": "EMG: myokymic discharges", "definition": "The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding. [HPO:probinson]"} {"concept_id": "C4022167", "aliases": [], "types": ["T033"], "canonical_name": "EMG: slow motor conduction", "definition": "The presence of reduced conduction velocity of motor nerves on electromyography. [HPO:probinson]"} {"concept_id": "C4022168", "aliases": [], "types": ["T033"], "canonical_name": "EMG: impaired neuromuscular transmission", "definition": "An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). [HPO:probinson]"} {"concept_id": "C4022169", "aliases": [], "types": ["T033"], "canonical_name": "EMG: myotonic discharges", "definition": "High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound. [HPO:probinson]"} {"concept_id": "C4022170", "aliases": [], "types": ["T033"], "canonical_name": "EMG: continuous motor unit activity at rest", "definition": "Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles. [HPO:probinson]"} {"concept_id": "C4022171", "aliases": ["Periauricular sinus", "Pits around the ear", "Periauricular earpits", "Periauricular pits", "Periauricular fistulas"], "types": ["T019"], "canonical_name": "Periauricular skin pits", "definition": "Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. [HPO:sdoelken]"} {"concept_id": "C4022172", "aliases": ["Skin pit"], "types": ["T190"], "canonical_name": "Skin pit", "definition": "A small, skin-lined tract that leads from the surface to deep within the tissues. []"} {"concept_id": "C4022173", "aliases": [], "types": ["T033"], "canonical_name": "Hyponasal speech", "definition": "Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion. [HPO:sdoelken]"} {"concept_id": "C4022174", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of dorsoventral patterning of the limbs", "definition": "An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs. [HPO:sdoelken]"} {"concept_id": "C4022175", "aliases": ["Paramedian labial pits"], "types": ["T033"], "canonical_name": "Paramedian lip pit", "definition": "Depression located paramedially on the vermilion of a lip. [HPO:sdoelken]"} {"concept_id": "C4022176", "aliases": [], "types": ["T190"], "canonical_name": "Upper lip pit", "definition": "Depression located on the vermilion of the upper lip, usually paramedian. [HPO:sdoelken]"} {"concept_id": "C4022177", "aliases": ["Fusion of long bones of hand/long bones of foot"], "types": ["T190"], "canonical_name": "Synostosis of metacarpals/metatarsals"} {"concept_id": "C4022178", "aliases": ["Fusion involving digits"], "types": ["T190"], "canonical_name": "Synostosis involving digits"} {"concept_id": "C4022179", "aliases": [], "types": ["T047"], "canonical_name": "Stenosis of the medullary cavity of the long bones"} {"concept_id": "C4022180", "aliases": ["Lipomas of the central nervous system"], "types": ["T191"], "canonical_name": "Multiple central nervous system lipomas", "definition": "The presence of mulitple lipomas located in the central nervous system. [PMID:26942290]"} {"concept_id": "C4022181", "aliases": [], "types": ["T033"], "canonical_name": "Meningeal calcification", "definition": "Calcium deposition affecting the Meninges. [HPO:sdoelken]"} {"concept_id": "C4022182", "aliases": [], "types": ["T046"], "canonical_name": "Ectopic respiratory mucosa", "definition": "Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations. [HPO:sdoelken]"} {"concept_id": "C4022184", "aliases": ["Fusion involving bones of the upper limbs"], "types": ["T190"], "canonical_name": "Synostosis involving bones of the upper limbs", "definition": "An abnormal union between bones or parts of bones of the upper limbs. [HPO:sdoelken]"} {"concept_id": "C4022185", "aliases": [], "types": ["T190"], "canonical_name": "Proximal foot symphalangism"} {"concept_id": "C4022186", "aliases": ["Fusion involving bones of the toes"], "types": ["T190"], "canonical_name": "Synostosis involving bones of the toes"} {"concept_id": "C4022187", "aliases": ["Triangular end part of the innermost bone of the little toe", "Triangular end part of the innermost bone of the pinkie toe", "Triangular end part of the innermost bone of the pinky toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the proximal phalanx of the 5th toe"} {"concept_id": "C4022188", "aliases": ["Speckled calcifications in the end part of the innermost bone of the pinky toe", "Speckled calcifications in the end part of the innermost bone of the pinkie toe", "Speckled calcifications in the end part of the innermost bone of the little toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the proximal phalanx of the 5th toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe. [HPO:curators]"} {"concept_id": "C4022189", "aliases": ["Small end part of the innermost bone of the little toe", "Small end part of the innermost bone of the pinkie toe", "Small end part of the innermost bone of the pinky toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the proximal phalanx of the 5th toe"} {"concept_id": "C4022190", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the proximal phalanx of the 5th toe", "definition": "A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe. []"} {"concept_id": "C4022191", "aliases": ["Increased bone density of end part of the innermost bone of the pinky toe", "Increased bone density of end part of the innermost bone of the pinkie toe", "Increased bone density of end part of the innermost bone of the little toe"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the proximal phalanx of the 5th toe"} {"concept_id": "C4022192", "aliases": ["Irregular end part of the innermost bone of the little toe", "Irregular end part of the innermost bone of the pinky toe", "Irregular end part of the innermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the proximal phalanx of the 5th toe"} {"concept_id": "C4022193", "aliases": ["Fragmentation of the end part of the innermost bone of the pinky toe", "Fragmentation of the end part of the innermost bone of the pinkie toe", "Fragmentation of the end part of the innermost bone of the little toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the proximal phalanx of the 5th toe"} {"concept_id": "C4022194", "aliases": ["Enlarged end part of the innermost bone of the pinkie toe", "Enlarged end part of the innermost bone of the pinky toe", "Enlarged end part of the innermost bone of the little toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the proximal phalanx of the 5th toe"} {"concept_id": "C4022195", "aliases": ["Cone-shaped end part of the innermost bone of the pinky toe", "Cone-shaped end part of the innermost bone of the pinkie toe", "Cone-shaped end part of the innermost bone of the little toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the proximal phalanx of the 5th toe"} {"concept_id": "C4022196", "aliases": ["Bracket shaped end part of the innermost bone of the little toe", "Bracket shaped end part of the innermost bone of the pinky toe", "Bracket shaped end part of the innermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the proximal phalanx of the 5th toe"} {"concept_id": "C4022197", "aliases": ["Absent end part of the innermost bone of the pinkie toe", "Absent end part of the innermost bone of the pinky toe", "Absent end part of the innermost bone of the little toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the proximal phalanx of the 5th toe"} {"concept_id": "C4022198", "aliases": ["Triangular end part of the middle bone of the pinky toe", "Triangular end part of the middle bone of the pinkie toe", "Triangular end part of the middle bone of the little toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the middle phalanx of the 5th toe"} {"concept_id": "C4022199", "aliases": ["Speckled calcifications in middle part of the innermost bone of the pinky toe", "Speckled calcifications in end part of the innermost bone of the pinkie toe", "Speckled calcifications in middle part of the innermost bone of the little toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the middle phalanx of the 5th toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe. [HPO:curators]"} {"concept_id": "C4022200", "aliases": ["Small end part of the middle bone of the pinkie toe", "Small end part of the middle bone of the pinky toe", "Small end part of the middle bone of the little toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the middle phalanx of the 5th toe"} {"concept_id": "C4022201", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the middle phalanx of the 5th toe", "definition": "A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe. []"} {"concept_id": "C4022202", "aliases": ["Increased bone density of end part of the middle bone of the pinkie toe", "Increased bone density of end part of the middle bone of the pinky toe", "Increased bone density of end part of the middle bone of the little toe"], "types": ["T033"], "canonical_name": "Ivory epiphysis of the middle phalanx of the 5th toe"} {"concept_id": "C4022203", "aliases": ["Irregular end part of the middle bone of the little toe", "Irregular end part of the middle bone of the pinkie toe", "Irregular end part of the middle bone of the pinky toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the middle phalanx of the 5th toe"} {"concept_id": "C4022204", "aliases": ["Fragmentation of the end part of the middle bone of the little toe", "Fragmentation of the end part of the middle bone of the pinkie toe", "Fragmentation of the end part of the middle bone of the pinky toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the middle phalanx of the 5th toe"} {"concept_id": "C4022205", "aliases": ["Enlarged end part of the middle bone of the pinkie toe", "Enlarged end part of the middle bone of the little toe", "Enlarged end part of the middle bone of the pinky toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the middle phalanx of the 5th toe"} {"concept_id": "C4022206", "aliases": ["Cone-shaped end part of the middle bone of the little toe", "Cone-shaped end part of the middle bone of the pinky toe", "Cone-shaped end part of the middle bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the middle phalanx of the 5th toe"} {"concept_id": "C4022207", "aliases": ["Bracket shaped end part of the middle bone of the pinkie toe", "Bracket shaped end part of the middle bone of the little toe", "Bracket shaped end part of the middle bone of the pinky toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the middle phalanx of the 5th toe"} {"concept_id": "C4022208", "aliases": ["Absent end part of the middle bone of the pinkie toe", "Absent end part of the middle bone of the little toe", "Absent end part of the middle bone of the pinky toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the middle phalanx of the 5th toe"} {"concept_id": "C4022209", "aliases": ["Triangular end part of the outermost bone of the pinkie toe", "Triangular end part of the outermost bone of the pinky toe", "Triangular end part of the outermost bone of the little toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the distal phalanx of the 5th toe"} {"concept_id": "C4022210", "aliases": ["Speckled calcifications in the end part of the outermost bone of the pinky toe", "Speckled calcifications in the end part of the outermost bone of the pinkie toe", "Speckled calcifications in the end part of the outermost bone of the little toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the distal phalanx of the 5th toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe. [HPO:curators]"} {"concept_id": "C4022211", "aliases": ["Small end part of the outermost bone of the little toe", "Small end part of the outermost bone of the pinky toe", "Small end part of the outermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the distal phalanx of the 5th toe"} {"concept_id": "C4022212", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the distal phalanx of the 5th toe"} {"concept_id": "C4022213", "aliases": ["Increased bone density of end part of the outermost bone of the pinky toe", "Increased bone density of end part of the outermost bone of the pinkie toe", "Increased bone density of end part of the outermost bone of the little toe"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the distal phalanx of the 5th toe"} {"concept_id": "C4022214", "aliases": ["Irregular end part of the outermost bone of the pinkie toe", "Irregular end part of the outermost bone of the pinky toe", "Irregular end part of the outermost bone of the little toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the distal phalanx of the 5th toe"} {"concept_id": "C4022215", "aliases": ["Fragmentation of the end part of the outermost bone of the pinky toe", "Fragmentation of the end part of the outermost bone of the little toe", "Fragmentation of the end part of the outermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the distal phalanx of the 5th toe"} {"concept_id": "C4022216", "aliases": ["Enlarged end part of the outermost bone of the little toe", "Enlarged end part of the outermost bone of the pinky toe", "Enlarged end part of the outermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the distal phalanx of the 5th toe"} {"concept_id": "C4022217", "aliases": ["Cone-shaped end part of the outermost bone of the pinky toe", "Cone-shaped end part of the outermost bone of the little toe", "Cone-shaped end part of the outermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the distal phalanx of the 5th toe"} {"concept_id": "C4022218", "aliases": ["Bracket shaped end part of the outermost bone of the pinky toe", "Bracket shaped end part of the outermost bone of the little toe", "Bracket shaped end part of the outermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the distal phalanx of the 5th toe"} {"concept_id": "C4022219", "aliases": ["Absent end part of the outermost bone of the little toe", "Absent end part of the outermost bone of the pinkie toe", "Absent end part of the outermost bone of the pinky toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the distal phalanx of the 5th toe"} {"concept_id": "C4022220", "aliases": ["Triangular end part of the innermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the proximal phalanx of the 4th toe"} {"concept_id": "C4022221", "aliases": ["Speckled calcifications in the end part of the innermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the proximal phalanx of the 4th toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe. [HPO:curators]"} {"concept_id": "C4022222", "aliases": ["Small end part of the innermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the proximal phalanx of the 4th toe"} {"concept_id": "C4022223", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the proximal phalanx of the 4th toe", "definition": "A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe. []"} {"concept_id": "C4022224", "aliases": ["Increased bone density of end part of the innermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the proximal phalanx of the 4th toe"} {"concept_id": "C4022225", "aliases": ["Irregular end part of the innermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the proximal phalanx of the 4th toe"} {"concept_id": "C4022226", "aliases": ["Fragmentation of the end part of the innermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the proximal phalanx of the 4th toe"} {"concept_id": "C4022227", "aliases": ["Enlarged end part of the innermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the proximal phalanx of the 4th toe"} {"concept_id": "C4022228", "aliases": ["Cone-shaped end part of the innermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the proximal phalanx of the 4th toe"} {"concept_id": "C4022229", "aliases": ["Bracket shaped end part of the innermost bone of 4th toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the proximal phalanx of the 4th toe"} {"concept_id": "C4022230", "aliases": ["Absent end part of the innermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the proximal phalanx of the 4th toe"} {"concept_id": "C4022231", "aliases": ["Triangular end part of the middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the middle phalanx of the 4th toe"} {"concept_id": "C4022232", "aliases": ["Speckled calcifications in the end part of the middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the middle phalanx of the 4th toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe. [HPO:curators]"} {"concept_id": "C4022233", "aliases": ["Small end part of middle long bone of 4th toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the middle phalanx of the 4th toe"} {"concept_id": "C4022234", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the middle phalanx of the 4th toe", "definition": "A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe. []"} {"concept_id": "C4022235", "aliases": ["Increased bone density of end part of the middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the middle phalanx of the 4th toe"} {"concept_id": "C4022236", "aliases": ["Irregular end part of the middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the middle phalanx of the 4th toe"} {"concept_id": "C4022237", "aliases": ["Fragmentation of the end part of the middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the middle phalanx of the 4th toe"} {"concept_id": "C4022238", "aliases": ["Enlarged end part of the middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the middle phalanx of the 4th toe"} {"concept_id": "C4022239", "aliases": ["Cone-shaped end part of the middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the middle phalanx of the 4th toe"} {"concept_id": "C4022240", "aliases": ["Bracket shaped end part of the middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the middle phalanx of the 4th toe"} {"concept_id": "C4022241", "aliases": ["Absent end part of the middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the middle phalanx of the 4th toe"} {"concept_id": "C4022242", "aliases": ["Triangular end part of the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the distal phalanx of the 4th toe"} {"concept_id": "C4022243", "aliases": ["Speckled calcifications in the end part of the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the distal phalanx of the 4th toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe. [HPO:curators]"} {"concept_id": "C4022244", "aliases": ["Small end part of the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the distal phalanx of the 4th toe"} {"concept_id": "C4022245", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the distal phalanx of the 4th toe"} {"concept_id": "C4022246", "aliases": ["Increased bone density of end part of the outermost bone of the 4th toe"], "types": ["T033"], "canonical_name": "Ivory epiphysis of the distal phalanx of the 4th toe"} {"concept_id": "C4022247", "aliases": ["Irregular end part of the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the distal phalanx of the 4th toe"} {"concept_id": "C4022248", "aliases": ["Fragmentation of the end part of the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the distal phalanx of the 4th toe"} {"concept_id": "C4022249", "aliases": ["Enlarged end part of the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the distal phalanx of the 4th toe"} {"concept_id": "C4022250", "aliases": ["Cone-shaped end part of the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the distal phalanx of the 4th toe"} {"concept_id": "C4022251", "aliases": ["Bracket shaped end part of the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the distal phalanx of the 4th toe"} {"concept_id": "C4022252", "aliases": ["Absent end part of the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the distal phalanx of the 4th toe"} {"concept_id": "C4022253", "aliases": ["Fragmented end part of bone"], "types": ["T190"], "canonical_name": "Fragmented epiphyses", "definition": "Fragmented appearance of the epiphyses. [HPO:sdoelken]"} {"concept_id": "C4022254", "aliases": ["Triangular end part of the innermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the proximal phalanx of the 3rd toe"} {"concept_id": "C4022255", "aliases": ["Speckled calcifications in of the end part of the innermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the proximal phalanx of the 3rd toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe. [HPO:curators]"} {"concept_id": "C4022256", "aliases": ["Small end part of the innermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the proximal phalanx of the 3rd toe"} {"concept_id": "C4022257", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the proximal phalanx of the 3rd toe", "definition": "A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe. []"} {"concept_id": "C4022258", "aliases": ["Increased bone density of end part of the innermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the proximal phalanx of the 3rd toe"} {"concept_id": "C4022259", "aliases": ["Irregular end part of the innermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the proximal phalanx of the 3rd toe"} {"concept_id": "C4022260", "aliases": ["Fragmentation of the end part of the innermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe"} {"concept_id": "C4022261", "aliases": ["Enlarged end part of the innermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the proximal phalanx of the 3rd toe"} {"concept_id": "C4022262", "aliases": ["Cone-shaped end part of the innermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the proximal phalanx of the 3rd toe"} {"concept_id": "C4022263", "aliases": ["Bracket shaped end part of the innermost bone of 3rd toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the proximal phalanx of the 3rd toe"} {"concept_id": "C4022264", "aliases": ["Absent end part of the innermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the proximal phalanx of the 3rd toe"} {"concept_id": "C4022265", "aliases": ["Triangular end part of the middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the middle phalanx of the 3rd toe"} {"concept_id": "C4022266", "aliases": ["Speckled calcifications in the end part of the middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the middle phalanx of the 3rd toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe. [HPO:curators]"} {"concept_id": "C4022267", "aliases": ["Small end part of the middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the middle phalanx of the 3rd toe"} {"concept_id": "C4022268", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the middle phalanx of the 3rd toe"} {"concept_id": "C4022269", "aliases": ["Increased bone density of end part of the middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the middle phalanx of the 3rd toe"} {"concept_id": "C4022270", "aliases": ["Irregular end part of the middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the middle phalanx of the 3rd toe"} {"concept_id": "C4022271", "aliases": ["Fragmentation of the end part of the middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the middle phalanx of the 3rd toe"} {"concept_id": "C4022272", "aliases": ["Enlarged end part of the middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the middle phalanx of the 3rd toe"} {"concept_id": "C4022273", "aliases": ["Cone-shaped end part of the middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the middle phalanx of the 3rd toe"} {"concept_id": "C4022274", "aliases": ["Bracket shaped end part of the middle bone of 3rd toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the middle phalanx of the 3rd toe"} {"concept_id": "C4022275", "aliases": ["Absent end part of the middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the middle phalanx of the 3rd toe"} {"concept_id": "C4022276", "aliases": ["Triangular end part of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the distal phalanx of the 3rd toe"} {"concept_id": "C4022277", "aliases": ["Speckled calcifications in the end part of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the distal phalanx of the 3rd toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe. [HPO:curators]"} {"concept_id": "C4022278", "aliases": ["Small end part of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the distal phalanx of the 3rd toe"} {"concept_id": "C4022279", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the distal phalanx of the 3rd toe"} {"concept_id": "C4022280", "aliases": ["Increased bone density of end part of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the distal phalanx of the 3rd toe"} {"concept_id": "C4022281", "aliases": ["Irregular end part of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the distal phalanx of the 3rd toe"} {"concept_id": "C4022282", "aliases": ["Fragmentation of the end part of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the distal phalanx of the 3rd toe"} {"concept_id": "C4022283", "aliases": ["Enlarged end part of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the distal phalanx of the 3rd toe"} {"concept_id": "C4022284", "aliases": ["Cone-shaped end part of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the distal phalanx of the 3rd toe"} {"concept_id": "C4022285", "aliases": ["Bracket shaped end part of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the distal phalanx of the 3rd toe"} {"concept_id": "C4022286", "aliases": ["Absent end part of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the distal phalanx of the 3rd toe"} {"concept_id": "C4022287", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the axillary hair", "definition": "Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty. [HPO:sdoelken]"} {"concept_id": "C4022288", "aliases": ["Abnormality of the pubic hair"], "types": ["T190"], "canonical_name": "Abnormality of the pubic hair", "definition": "Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty. [HPO:sdoelken]"} {"concept_id": "C4022289", "aliases": ["Triangular end part of the innermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the proximal phalanx of the 2nd toe"} {"concept_id": "C4022290", "aliases": ["Speckled calcifications in the end part of the innermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the proximal phalanx of the 2nd toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe. [HPO:curators]"} {"concept_id": "C4022291", "aliases": ["Small end part of the innermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the proximal phalanx of the 2nd toe"} {"concept_id": "C4022292", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the proximal phalanx of the 2nd toe", "definition": "A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe. []"} {"concept_id": "C4022293", "aliases": ["Increased bone density of end part of the innermost bone of the 2nd toe"], "types": ["T033"], "canonical_name": "Ivory epiphysis of the proximal phalanx of the 2nd toe"} {"concept_id": "C4022294", "aliases": ["Irregular end part of the innermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the proximal phalanx of the 2nd toe"} {"concept_id": "C4022295", "aliases": ["Fragmentation of the end part of the innermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe"} {"concept_id": "C4022296", "aliases": ["Enlarged end part of the innermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the proximal phalanx of the 2nd toe"} {"concept_id": "C4022297", "aliases": ["Cone-shaped end part of the innermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the proximal phalanx of the 2nd toe"} {"concept_id": "C4022298", "aliases": ["Bracket shaped end part of the innermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the proximal phalanx of the 2nd toe"} {"concept_id": "C4022299", "aliases": ["Absent end part of the innermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the proximal phalanx of the 2nd toe"} {"concept_id": "C4022300", "aliases": ["Triangular end part of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the middle phalanx of the 2nd toe"} {"concept_id": "C4022301", "aliases": ["Speckled calcifications in of the end part of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the middle phalanx of the 2nd toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe. [HPO:curators]"} {"concept_id": "C4022302", "aliases": ["Small end part of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the middle phalanx of the 2nd toe"} {"concept_id": "C4022303", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the middle phalanx of the 2nd toe", "definition": "A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe. []"} {"concept_id": "C4022304", "aliases": ["Increased bone density of end part of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the middle phalanx of the 2nd toe"} {"concept_id": "C4022305", "aliases": ["Irregular end part of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the middle phalanx of the 2nd toe"} {"concept_id": "C4022306", "aliases": ["Fragmentation of the end part of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the middle phalanx of the 2nd toe"} {"concept_id": "C4022307", "aliases": ["Enlarged end part of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the middle phalanx of the 2nd toe"} {"concept_id": "C4022308", "aliases": ["Cone-shaped end part of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the middle phalanx of the 2nd toe"} {"concept_id": "C4022309", "aliases": ["Bracket shaped end part of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the middle phalanx of the 2nd toe"} {"concept_id": "C4022310", "aliases": ["Absent end part of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the middle phalanx of the 2nd toe"} {"concept_id": "C4022311", "aliases": ["Triangular end part of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the distal phalanx of the 2nd toe"} {"concept_id": "C4022312", "aliases": ["Speckled calcifications in the end part of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the distal phalanx of the 2nd toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe. [HPO:curators]"} {"concept_id": "C4022313", "aliases": ["Small end part of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the distal phalanx of the 2nd toe"} {"concept_id": "C4022314", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the distal phalanx of the 2nd toe"} {"concept_id": "C4022315", "aliases": ["Increased bone density of end part of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the distal phalanx of the 2nd toe"} {"concept_id": "C4022316", "aliases": ["Irregular end part of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the distal phalanx of the 2nd toe"} {"concept_id": "C4022317", "aliases": ["Fragmentation of the end part of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the distal phalanx of the 2nd toe"} {"concept_id": "C4022318", "aliases": ["Enlarged end part of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the distal phalanx of the 2nd toe"} {"concept_id": "C4022319", "aliases": ["Cone-shaped end part of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the distal phalanx of the 2nd toe"} {"concept_id": "C4022320", "aliases": ["Bracket shaped end part of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the distal phalanx of the 2nd toe"} {"concept_id": "C4022321", "aliases": ["Absent end part of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the distal phalanx of the 2nd toe"} {"concept_id": "C4022322", "aliases": ["Abnormality of the end part of the innermost bone of the little toe", "Abnormality of the end part of the innermost bone of the pinkie toe", "Abnormality of the end part of the innermost bone of the pinky toe"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the proximal phalanx of the 5th toe"} {"concept_id": "C4022323", "aliases": ["Abnormality of the end part of the middle bone of the pinkie toe", "Abnormality of the end part of the middle bone of the pinky toe", "Abnormality of the end part of the middle bone of the little toe"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the middle phalanx of the 5th toe"} {"concept_id": "C4022324", "aliases": ["Abnormality of the end part of the outermost bone of the pinky toe", "Abnormality of the end part of the outermost bone of the little toe", "Abnormality of the end part of the outermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the distal phalanx of the 5th toe"} {"concept_id": "C4022325", "aliases": ["Abnormality of the end part of the innermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the proximal phalanx of the 4th toe"} {"concept_id": "C4022326", "aliases": ["Abnormality of the end part of the middle bone of the 4th toe"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the middle phalanx of the 4th toe"} {"concept_id": "C4022327", "aliases": ["Abnormality of the end part of the outermost bone of the 4th toe"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the distal phalanx of the 4th toe"} {"concept_id": "C4022328", "aliases": ["Abnormality of the end part of the innermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the proximal phalanx of the 3rd toe"} {"concept_id": "C4022329", "aliases": ["Abnormality of the end part of the middle bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the middle phalanx of the 3rd toe"} {"concept_id": "C4022330", "aliases": ["Abnormality of the end part of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the distal phalanx of the 3rd toe"} {"concept_id": "C4022331", "aliases": ["Abnormality of the end part of the innermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the proximal phalanx of the 2nd toe"} {"concept_id": "C4022332", "aliases": ["Abnormality of the end part of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the middle phalanx of the 2nd toe"} {"concept_id": "C4022333", "aliases": ["Abnormality of the end part of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the distal phalanx of the 2nd toe"} {"concept_id": "C4022334", "aliases": ["Triangular end part of the pinkie toe bone", "Triangular end part of the little toe bone", "Triangular end part of the pinky toe bone"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the 5th toe"} {"concept_id": "C4022335", "aliases": ["Speckled calcifications in the end part of the pinkie toe bone", "Speckled calcifications in the end part of the pinky toe bone", "Speckled calcifications in the end part of the little toe bone"], "types": ["T190"], "canonical_name": "Stippling of the epiphyses of the 5th toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe. [HPO:curators]"} {"concept_id": "C4022336", "aliases": ["Small end part of the pinkie toe bone", "Small end part of the little toe bone", "Small end part of the pinky toe bone"], "types": ["T190"], "canonical_name": "Small epiphyses of the 5th toe"} {"concept_id": "C4022337", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphyses of the 5th toe"} {"concept_id": "C4022338", "aliases": ["Increased bone density of end part of the pinkie toe bone", "Increased bone density of end part of the little toe bone", "Increased bone density of end part of the pinky toe bone"], "types": ["T190"], "canonical_name": "Ivory epiphyses of the 5th toe", "definition": "Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]"} {"concept_id": "C4022339", "aliases": ["Irregular end part of the pinky toe bone", "Irregular end part of the pinkie toe bone", "Irregular end part of the little toe bone"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the 5th toe"} {"concept_id": "C4022340", "aliases": ["Fragmentation of the end part of the pinkie toe bone", "Fragmentation of the end part of the pinky toe bone", "Fragmentation of the end part of the little toe bone"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the 5th toe"} {"concept_id": "C4022341", "aliases": ["Enlarged end part of the pinkie toe bone", "Enlarged end part of the little toe bone", "Enlarged end part of the pinky toe bone"], "types": ["T190"], "canonical_name": "Enlarged epiphyses of the 5th toe"} {"concept_id": "C4022342", "aliases": ["Cone-shaped end part of the pinkie toe bone", "Cone-shaped end part of the pinky toe bone", "Cone-shaped end part of the little toe bone"], "types": ["T190"], "canonical_name": "Cone-shaped epiphyses of the 5th toe"} {"concept_id": "C4022343", "aliases": ["Bracket shaped end part of little toe bone", "Bracket shaped end part of pinky toe bone", "Bracket shaped end part of pinkie toe bone"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the 5th toe"} {"concept_id": "C4022344", "aliases": ["Absent end part of the pinkie toe bone", "Absent end part of the pinky toe bone", "Absent end part of the little toe bone"], "types": ["T190"], "canonical_name": "Absent epiphyses of the 5th toe"} {"concept_id": "C4022345", "aliases": ["Triangular end part of the 4th toe bone"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the 4th toe"} {"concept_id": "C4022346", "aliases": ["Speckled calcifications in the end part of the 4th toe bone"], "types": ["T190"], "canonical_name": "Stippling of the epiphyses of the 4th toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe. [HPO:curators]"} {"concept_id": "C4022347", "aliases": ["Small end part of the 4th toe bone"], "types": ["T190"], "canonical_name": "Small epiphyses of the 4th toe"} {"concept_id": "C4022348", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphyses of the 4th toe"} {"concept_id": "C4022349", "aliases": ["Increased bone density of end part of the 4th toe bone"], "types": ["T190"], "canonical_name": "Ivory epiphyses of the 4th toe", "definition": "Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]"} {"concept_id": "C4022350", "aliases": ["Irregular end part of the 4th toe bone"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the 4th toe"} {"concept_id": "C4022351", "aliases": ["Fragmentation of the end part of the 4th toe bone"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the 4th toe"} {"concept_id": "C4022352", "aliases": ["Enlarged end part of the 4th toe bone"], "types": ["T190"], "canonical_name": "Enlarged epiphyses of the 4th toe"} {"concept_id": "C4022353", "aliases": ["Cone-shaped end part of the 4th toe bone"], "types": ["T190"], "canonical_name": "Cone-shaped epiphyses of the 4th toe"} {"concept_id": "C4022354", "aliases": ["Bracket shaped end part of 4th toe bone"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the 4th toe"} {"concept_id": "C4022355", "aliases": ["Absent end part of the 4th toe bone"], "types": ["T190"], "canonical_name": "Absent epiphyses of the 4th toe"} {"concept_id": "C4022356", "aliases": ["Triangular end part of the 3rd toe bone"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the 3rd toe"} {"concept_id": "C4022357", "aliases": ["Speckled calcifications in the end part of the 3rd toe bone"], "types": ["T190"], "canonical_name": "Stippling of the epiphyses of the 3rd toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe. [HPO:curators]"} {"concept_id": "C4022358", "aliases": ["Small end part of the 3rd toe bone"], "types": ["T190"], "canonical_name": "Small epiphyses of the 3rd toe"} {"concept_id": "C4022359", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphyses of the 3rd toe"} {"concept_id": "C4022360", "aliases": ["Increased bone density of end part of the 3rd toe bone"], "types": ["T190"], "canonical_name": "Ivory epiphyses of the 3rd toe", "definition": "Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]"} {"concept_id": "C4022361", "aliases": ["Irregular end part of the 3rd toe bone"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the 3rd toe"} {"concept_id": "C4022362", "aliases": ["Fragmentation of the end part of the 3rd toe bone"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the 3rd toe"} {"concept_id": "C4022363", "aliases": ["Enlarged end part of the 3rd toe bone"], "types": ["T190"], "canonical_name": "Enlarged epiphyses of the 3rd toe"} {"concept_id": "C4022364", "aliases": ["Cone-shaped end part of the 3rd toe bone"], "types": ["T190"], "canonical_name": "Cone-shaped epiphyses of the 3rd toe"} {"concept_id": "C4022365", "aliases": ["Bracket shaped end part of 3rd toe bone"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the 3rd toe"} {"concept_id": "C4022366", "aliases": ["Absent end part of the 3rd toe"], "types": ["T190"], "canonical_name": "Absent epiphyses of the 3rd toe"} {"concept_id": "C4022367", "aliases": ["Triangular end part of the 2nd toe bone"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the 2nd toe"} {"concept_id": "C4022368", "aliases": ["Speckled calcifications in the end part of the 2nd toe bone"], "types": ["T190"], "canonical_name": "Stippling of the epiphyses of the 2nd toe", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe. [HPO:curators]"} {"concept_id": "C4022369", "aliases": ["Small end part of the 2nd toe bone"], "types": ["T190"], "canonical_name": "Small epiphyses of the 2nd toe"} {"concept_id": "C4022370", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphyses of the 2nd toe"} {"concept_id": "C4022371", "aliases": ["Increased bone density of end part of the 2nd toe"], "types": ["T190"], "canonical_name": "Ivory epiphyses of the 2nd toe", "definition": "Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]"} {"concept_id": "C4022372", "aliases": ["Irregular end part of the 2nd toe bone"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the 2nd toe"} {"concept_id": "C4022373", "aliases": ["Fragmentation of the end part of the 2nd toe bone"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the 2nd toe"} {"concept_id": "C4022374", "aliases": ["Enlarged end part of the 2nd toe bone"], "types": ["T190"], "canonical_name": "Enlarged epiphyses of the 2nd toe"} {"concept_id": "C4022375", "aliases": ["Cone-shaped end part of the 2nd toe bone"], "types": ["T190"], "canonical_name": "Cone-shaped epiphyses of the 2nd toe"} {"concept_id": "C4022376", "aliases": ["Bracket shaped end part of 2nd toe bone"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the 2nd toe"} {"concept_id": "C4022377", "aliases": ["Absent end part of the 2nd toe bone"], "types": ["T190"], "canonical_name": "Absent epiphyses of the 2nd toe"} {"concept_id": "C4022378", "aliases": ["Broad little toe", "Broad pinky toe", "Broad pinkie toe", "Broad 5th toe"], "types": ["T190"], "canonical_name": "Broad 5th toe", "definition": "A broad appearance of the fifth toe. [HPO:sdoelken]"} {"concept_id": "C4022379", "aliases": ["Broad 4th toe", "Wide 4th toe"], "types": ["T033"], "canonical_name": "Broad 4th toe", "definition": "A broad appearance of the fourth toe. [HPO:sdoelken]"} {"concept_id": "C4022380", "aliases": ["Broad 3rd toe", "Wide 3rd toe"], "types": ["T190"], "canonical_name": "Broad 3rd toe", "definition": "A broad appearance of the third toe. [HPO:sdoelken]"} {"concept_id": "C4022381", "aliases": ["Wide 2nd toe"], "types": ["T190"], "canonical_name": "Broad 2nd toe", "definition": "A broad appearance of the second toe. [HPO:sdoelken]"} {"concept_id": "C4022382", "aliases": [], "types": ["T190"], "canonical_name": "Thickened cortex of bones", "definition": "An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones. [HPO:sdoelken]"} {"concept_id": "C4022383", "aliases": ["Slow-growing scalp hair"], "types": ["T033"], "canonical_name": "Slow-growing scalp hair", "definition": "Scalp hair whose growth is slower than normal. [DDD:cmoss]"} {"concept_id": "C4022384", "aliases": ["Abnormality of the scalp hair"], "types": ["T190"], "canonical_name": "Abnormality of the scalp hair", "definition": "An abnormality of the hair of head. [HPO:probinson]"} {"concept_id": "C4022385", "aliases": [], "types": ["T019"], "canonical_name": "Accessory ectopic thyroid tissue", "definition": "Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. [HPO:sdoelken]"} {"concept_id": "C4022386", "aliases": ["Overfriendliness"], "types": ["T048"], "canonical_name": "Overfriendliness", "definition": "A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction. [HPO:sdoelken]"} {"concept_id": "C4022387", "aliases": [], "types": ["T048"], "canonical_name": "Recurrent hand flapping", "definition": "A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down. [HPO:probinson]"} {"concept_id": "C4022388", "aliases": [], "types": ["T033"], "canonical_name": "Posterior capsular cataract", "definition": "A cataract which is found in the back outer layer of the lens. This type often develops more rapidly. [HPO:sdoelken]"} {"concept_id": "C4022389", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the mesentery"} {"concept_id": "C4022390", "aliases": [], "types": ["T191"], "canonical_name": "Scleral schwannoma"} {"concept_id": "C4022391", "aliases": [], "types": ["T191"], "canonical_name": "Testicular mesothelioma", "definition": "A Malignant mesothelioma of the testis. [HPO:probinson]"} {"concept_id": "C4022392", "aliases": ["Early onset of sexual maturation"], "types": ["T033"], "canonical_name": "Early onset of sexual maturation", "definition": "An early onset of puberty, in this case early does not refer to precocious. [HPO:probinson]"} {"concept_id": "C4022393", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary aminoisobutyric acid", "definition": "An increased amount of 3-aminoisobutyric acid in the urine. []"} {"concept_id": "C4022394", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the thoracic cavity"} {"concept_id": "C4022395", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the mediastinum"} {"concept_id": "C4022396", "aliases": ["Partial duplication of eyebrows", "Partial double eyebrow"], "types": ["T190"], "canonical_name": "Partial duplication of eyebrows"} {"concept_id": "C4022397", "aliases": [], "types": ["T019"], "canonical_name": "Congenital malformation of the left heart", "definition": "Defect or defects of the morphogenesis of the left heart identifiable at birth. []"} {"concept_id": "C4022398", "aliases": [], "types": ["T033"], "canonical_name": "Decreased urinary catecholamine concentration"} {"concept_id": "C4022399", "aliases": ["Decreased urine HCO3 concentration"], "types": ["T033"], "canonical_name": "Decreased urine bicarbonate concentration", "definition": "Abnormally decreased concentration of hydrogencarbonate in the urine. []"} {"concept_id": "C4022400", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of peripheral nerves"} {"concept_id": "C4022401", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal morphology of the radius"} {"concept_id": "C4022402", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal shape of the radius"} {"concept_id": "C4022403", "aliases": ["Abnormality of the substantia nigra"], "types": ["T190"], "canonical_name": "Abnormal substantia nigra morphology", "definition": "A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry. []"} {"concept_id": "C4022404", "aliases": ["Absent lymphatic vessels"], "types": ["T033"], "canonical_name": "Aplasia of lymphatic vessels", "definition": "Aplasia (absence) of the lymphatic vessels. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4022406", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ossification of the trapezoid bone"} {"concept_id": "C4022407", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ossification of the scaphoid"} {"concept_id": "C4022408", "aliases": [], "types": ["T033"], "canonical_name": "Absent ossification of the trapezium"} {"concept_id": "C4022409", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ossification of the trapezium"} {"concept_id": "C4022410", "aliases": ["Abnormal spaced incisors", "Abnormality of spacing of incisors", "Abnormality of spacing of front teeth"], "types": ["T190"], "canonical_name": "Abnormal spaced incisors"} {"concept_id": "C4022411", "aliases": [], "types": ["T190"], "canonical_name": "Short intermamillary distance"} {"concept_id": "C4022412", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal intermamillary distance"} {"concept_id": "C4022413", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary carboxylic acid", "definition": "An increased amount of carboxylic acid in the urine. []"} {"concept_id": "C4022414", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary 3-hydroxybutyric acid", "definition": "An increased amount of 3-hydroxybutyric acid in the urine. []"} {"concept_id": "C4022415", "aliases": [], "types": ["T033"], "canonical_name": "D-2-hydroxyglutaric acidemia"} {"concept_id": "C4022416", "aliases": [], "types": ["T033"], "canonical_name": "Dicarboxylic acidemia"} {"concept_id": "C4022417", "aliases": [], "types": ["T047"], "canonical_name": "Degeneration of the striatum"} {"concept_id": "C4022419", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal transferrin saturation", "definition": "Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity. [PMID:15083853]"} {"concept_id": "C4022420", "aliases": ["Abnormal liver iron level", "Abnormal liver iron concentration"], "types": ["T033"], "canonical_name": "Abnormal hepatic iron concentration"} {"concept_id": "C4022421", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal sensory nerve conduction velocity"} {"concept_id": "C4022422", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal sweat electrolytes"} {"concept_id": "C4022423", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal sweat homeostasis", "definition": "An abnormality of the composition of sweat or the levels of its components. []"} {"concept_id": "C4022424", "aliases": [], "types": ["T033"], "canonical_name": "Impairment of the reflex of the tensor tympani muscle"} {"concept_id": "C4022425", "aliases": [], "types": ["T033"], "canonical_name": "Impairment of the the acoustic reflex"} {"concept_id": "C4022426", "aliases": ["Abnormal auditory reflex", "Abnormal middle-ear-muscles (MEM) reflex", "Abnormality of stapedial reflex"], "types": ["T190"], "canonical_name": "Abnormality of the acoustic reflex", "definition": "An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation. []"} {"concept_id": "C4022427", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of the reflex of the tensor tympani muscle"} {"concept_id": "C4022428", "aliases": [], "types": ["T047"], "canonical_name": "Unilateral conductive hearing impairment"} {"concept_id": "C4022430", "aliases": [], "types": ["T033"], "canonical_name": "Absence of the reflex of the tensor tympani muscle"} {"concept_id": "C4022431", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal number of tubercles"} {"concept_id": "C4022433", "aliases": [], "types": ["T190"], "canonical_name": "Morphological abnormality of the saccule"} {"concept_id": "C4022434", "aliases": [], "types": ["T190"], "canonical_name": "Morphological abnormality of the utricle"} {"concept_id": "C4022435", "aliases": [], "types": ["T190"], "canonical_name": "Morphological abnormality of the anterior semicircular canal"} {"concept_id": "C4022436", "aliases": [], "types": ["T190"], "canonical_name": "Morphological abnormality of the posterior semicircular canal"} {"concept_id": "C4022437", "aliases": [], "types": ["T190"], "canonical_name": "Osseous stenosis of the external auditory canal"} {"concept_id": "C4022438", "aliases": [], "types": ["T190"], "canonical_name": "Cutaneous stenosis of the external auditory canal"} {"concept_id": "C4022439", "aliases": [], "types": ["T019"], "canonical_name": "Osseous atresia of the external auditory canal"} {"concept_id": "C4022440", "aliases": [], "types": ["T190"], "canonical_name": "Cutaneous atresia of the external auditory canal"} {"concept_id": "C4022441", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the round window"} {"concept_id": "C4022442", "aliases": [], "types": ["T191"], "canonical_name": "Basalioma of the outer ear"} {"concept_id": "C4022443", "aliases": ["Outer ear tumour", "Outer ear tumor"], "types": ["T191"], "canonical_name": "Neoplasm of the outer ear", "definition": "A tumor (abnormal growth of tissue) of the outer ear. [HPO:probinson]"} {"concept_id": "C4022444", "aliases": ["Uneven ears"], "types": ["T033"], "canonical_name": "Asymmetry of the position of the ears"} {"concept_id": "C4022445", "aliases": ["Asymmetry of the shape of the ears"], "types": ["T190"], "canonical_name": "Asymmetry of the shape of the ears"} {"concept_id": "C4022446", "aliases": ["Asymmetry of the size of ears"], "types": ["T190"], "canonical_name": "Asymmetry of the size of ears"} {"concept_id": "C4022447", "aliases": ["Abnormality of the eardrum"], "types": ["T033"], "canonical_name": "Abnormality of the tympanic membrane", "definition": "An abnormality of the tympanic membrane []"} {"concept_id": "C4022448", "aliases": ["Abnormal prolactin level"], "types": ["T033"], "canonical_name": "Abnormal prolactin level"} {"concept_id": "C4022449", "aliases": ["Abnormal circulating CK concentration", "Abnormal levels of creatine kinase in blood", "Abnormal circulation phospho-CK concentration", "Abnormal circulating CPK concentration"], "types": ["T033"], "canonical_name": "Abnormal circulating creatine kinase concentration", "definition": "Any deviation from the normal circulating creatine kinase concentration. [https://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4022450", "aliases": ["Abnormal blood calcium concentration", "Abnormal blood calcium levels", "Abnormal circulating Ca concentration", "Abnormal circulating Ca2+ concentration"], "types": ["T033"], "canonical_name": "Abnormal circulating calcium concentration", "definition": "Any deviation from the normal concentration of calcium in the blood circulation. [HPO:probinson]"} {"concept_id": "C4022451", "aliases": ["Abnormal shape of of forearm bone"], "types": ["T190"], "canonical_name": "Abnormal forearm bone morphology"} {"concept_id": "C4022452", "aliases": ["Abnormality of forearm bone"], "types": ["T190"], "canonical_name": "Abnormality of forearm bone"} {"concept_id": "C4022453", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal morphology of ulna"} {"concept_id": "C4022456", "aliases": ["Abnormality of limb bone"], "types": ["T190"], "canonical_name": "Abnormality of limb bone"} {"concept_id": "C4022457", "aliases": ["Abnormal shape of bones of the lower limbs", "Abnormal morphology of bones of the lower limbs", "Abnormality of lower limb bone"], "types": ["T190"], "canonical_name": "Abnormal lower limb bone morphology"} {"concept_id": "C4022458", "aliases": ["Abnormality of upper limb bone", "Abnormal shape of bones of the upper limbs", "Abnormal morphology of bones of the upper limbs"], "types": ["T190"], "canonical_name": "Abnormal upper limb bone morphology"} {"concept_id": "C4022459", "aliases": ["Decreased fat tissue"], "types": ["T184"], "canonical_name": "Decreased adipose tissue", "definition": "A decrease in the amount of adipose tissue."} {"concept_id": "C4022460", "aliases": [], "types": ["T047"], "canonical_name": "Osteosclerosis of the radius"} {"concept_id": "C4022461", "aliases": [], "types": ["T046"], "canonical_name": "Calcification of ribs"} {"concept_id": "C4022462", "aliases": ["Failure of development of upper eyelashes", "Absent upper eyelashes", "Atrichia of upper eyelashes"], "types": ["T033"], "canonical_name": "Absent upper eyelashes"} {"concept_id": "C4022463", "aliases": ["Decreased length of lower eyelashes", "Short lower eyelashes"], "types": ["T033"], "canonical_name": "Short lower eyelashes"} {"concept_id": "C4022464", "aliases": ["Short upper eyelashes", "Decreased length of upper eyelashes"], "types": ["T033"], "canonical_name": "Short upper eyelashes"} {"concept_id": "C4022465", "aliases": ["Increased length of lower eyelashes", "Long lower eyelashes", "Ciliary trichomegaly of lower eyelashes"], "types": ["T033"], "canonical_name": "Long lower eyelashes"} {"concept_id": "C4022466", "aliases": ["Abnormality of lower eyelashes"], "types": ["T190"], "canonical_name": "Abnormality of lower eyelashes"} {"concept_id": "C4022467", "aliases": ["Abnormality of upper eyelashes"], "types": ["T190"], "canonical_name": "Abnormality of upper eyelashes"} {"concept_id": "C4022468", "aliases": ["Hypotrichosis of upper eyelashes", "Sparse upper eyelashes", "Partial absence of upper eyelashes"], "types": ["T033"], "canonical_name": "Sparse upper eyelashes"} {"concept_id": "C4022470", "aliases": ["Abnormality of the right hemidiaphragm"], "types": ["T190"], "canonical_name": "Abnormal right hemidiaphragm morphology"} {"concept_id": "C4022471", "aliases": ["Abnormality of the left hemidiaphragm"], "types": ["T190"], "canonical_name": "Abnormal left hemidiaphragm morphology"} {"concept_id": "C4022472", "aliases": ["Abnormality of the hemidiaphragms"], "types": ["T190"], "canonical_name": "Abnormal hemidiaphragm morphology"} {"concept_id": "C4022473", "aliases": ["Underdeveloped diaphragm"], "types": ["T190"], "canonical_name": "Hypoplasia of the diaphragm"} {"concept_id": "C4022474", "aliases": ["Underdeveloped major sweat glands"], "types": ["T033"], "canonical_name": "Hypoplasia of the eccrine sweat glands"} {"concept_id": "C4022475", "aliases": ["Absent eccrine sweat glands"], "types": ["T033"], "canonical_name": "Aplasia of the eccrine sweat glands"} {"concept_id": "C4022476", "aliases": ["Onycholysis of toenails", "Detachment of toenails"], "types": ["T047"], "canonical_name": "Toenail onycholysis", "definition": "Painless and spontaneous separation of a toenail from the nail bed. []"} {"concept_id": "C4022477", "aliases": ["Overgrowth and curving of fingernail"], "types": ["T033"], "canonical_name": "Onychogryposis of fingernail", "definition": "Thickened fingernails. []"} {"concept_id": "C4022478", "aliases": ["Abnormality of the 4th long bone of foot"], "types": ["T190"], "canonical_name": "Abnormality of the fourth metatarsal bone"} {"concept_id": "C4022479", "aliases": ["Abnormality of the 2nd long bone of foot"], "types": ["T190"], "canonical_name": "Abnormality of the second metatarsal bone"} {"concept_id": "C4022480", "aliases": ["Absent/small 5th long bone of foot", "Absent/underdeveloped 5th long bone of foot"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the fifth metatarsal bone"} {"concept_id": "C4022481", "aliases": ["Underdevelopment of upper eyelid", "Small upper eyelid", "Hypotrophic upper eyelid", "Short upper eyelid", "Decreased size of upper eyelid"], "types": ["T033"], "canonical_name": "Hypoplasia of the upper eyelids"} {"concept_id": "C4022482", "aliases": [], "types": ["T033"], "canonical_name": "Chorioretinal hyperpigmentation"} {"concept_id": "C4022483", "aliases": [], "types": ["T033"], "canonical_name": "Chorioretinal hypopigmentation"} {"concept_id": "C4022484", "aliases": [], "types": ["T019"], "canonical_name": "Clinodactyly of the 4th finger"} {"concept_id": "C4022485", "aliases": [], "types": ["T019"], "canonical_name": "Clinodactyly of the 3rd finger"} {"concept_id": "C4022486", "aliases": ["Curvature of index finger", "Second finger clinodactyly"], "types": ["T033"], "canonical_name": "Clinodactyly of the 2nd finger"} {"concept_id": "C4022487", "aliases": [], "types": ["T190"], "canonical_name": "Radial deviation of the 5th finger"} {"concept_id": "C4022488", "aliases": [], "types": ["T019"], "canonical_name": "Clinodactyly of hallux"} {"concept_id": "C4022489", "aliases": ["Protruding tailbone"], "types": ["T033"], "canonical_name": "Protruding coccyx"} {"concept_id": "C4022490", "aliases": ["Prominent tailbone"], "types": ["T033"], "canonical_name": "Prominent coccyx"} {"concept_id": "C4022491", "aliases": [], "types": ["T033"], "canonical_name": "Increased activity of mitochondrial respiratory chain"} {"concept_id": "C4022492", "aliases": [], "types": ["T033"], "canonical_name": "Increased mitochondrial number"} {"concept_id": "C4022493", "aliases": [], "types": ["T033"], "canonical_name": "Decreased mitochondrial number"} {"concept_id": "C4022495", "aliases": [], "types": ["T033"], "canonical_name": "Flat posterior fossa"} {"concept_id": "C4022496", "aliases": [], "types": ["T033"], "canonical_name": "Small posterior fossa"} {"concept_id": "C4022497", "aliases": ["Aplasia of facial skeleton", "Absence of facial bones", "Failure of development of facial bones"], "types": ["T190"], "canonical_name": "Aplasia of facial bones"} {"concept_id": "C4022498", "aliases": ["Lack of skin coloring on chest", "Lack of skin colouring on chest"], "types": ["T033"], "canonical_name": "Absent pigmentation of chest", "definition": "Lack of skin pigmentation (coloring) of the chest. [HPO:skoehler]"} {"concept_id": "C4022499", "aliases": [], "types": ["T070"], "canonical_name": "Mortality/Aging"} {"concept_id": "C4022500", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of corneal shape"} {"concept_id": "C4022501", "aliases": [], "types": ["T033"], "canonical_name": "Elevated CD4-positive, CD25-positive regulatory T cell count", "definition": "An increased number of CD4-positive, CD25-positive regulatory T cells. [HPO:probinson]"} {"concept_id": "C4022502", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology", "definition": "A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells. [HPO:probinson]"} {"concept_id": "C4022503", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal alpha-beta T cell morphology", "definition": "A structuraly anomaly of T cells that express an alpha-beta T cell receptor. []"} {"concept_id": "C4022505", "aliases": [], "types": ["T033"], "canonical_name": "Impaired stimulus-induced skin wrinkling", "definition": "A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth). [PMID:19375384, UToronto:bgallinger]"} {"concept_id": "C4022506", "aliases": [], "types": ["T033"], "canonical_name": "Multinucleated giant chondrocytes in epiphyseal cartilage", "definition": "The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage. [HPO:probinson]"} {"concept_id": "C4022507", "aliases": [], "types": ["T033"], "canonical_name": "Decreased osteoclast count", "definition": "Decreased number of osteoclasts in bone tissue. [HPO:probinson, PMID:3513575]"} {"concept_id": "C4022508", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal osteoclast count", "definition": "An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue. []"} {"concept_id": "C4022509", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal macrophage count", "definition": "An anomaly in the number of macrophages. [HPO:probinson]"} {"concept_id": "C4022510", "aliases": [], "types": ["T190"], "canonical_name": "Cervicomedullary schisis", "definition": "Fissure within the spinal cord of the neck. [HPO:probinson]"} {"concept_id": "C4022511", "aliases": [], "types": ["T033"], "canonical_name": "Bilateral vertebral artery hypoplasia", "definition": "Underdevelopment of the vertebral artery on both sides. [HPO:probinson, PMID:23816871]"} {"concept_id": "C4022512", "aliases": ["Abnormality of the vertebral artery"], "types": ["T190"], "canonical_name": "Abnormal vertebral artery morphology", "definition": "An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system. [HPO:probinson]"} {"concept_id": "C4022513", "aliases": [], "types": ["T033"], "canonical_name": "Increased intervertebral space", "definition": "An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. [HPO:probinson]"} {"concept_id": "C4022515", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal periosteum morphology", "definition": "An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones. [HPO:probinson]"} {"concept_id": "C4022516", "aliases": ["Dislocated leg joints"], "types": ["T033"], "canonical_name": "Lower extremity joint dislocation", "definition": "Displacement or malalignment of one or more joints in the lower extremity (leg). [HPO:probinson]"} {"concept_id": "C4022517", "aliases": ["Dislocated arm joints"], "types": ["T033"], "canonical_name": "Upper extremity joint dislocation", "definition": "Displacement or malalignment of one or more joints in the upper extremity (arm). [HPO:probinson]"} {"concept_id": "C4022518", "aliases": ["Flared outermost wide portion of of calf bone"], "types": ["T190"], "canonical_name": "Flared distal fibular metaphysis", "definition": "The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula. [HPO:probinson]"} {"concept_id": "C4022519", "aliases": ["Flared outermost metaphysis of shankbone", "Flared outermost metaphysis of shinbone"], "types": ["T033"], "canonical_name": "Flared distal tibial metaphysis", "definition": "The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia. [HPO:probinson]"} {"concept_id": "C4022520", "aliases": ["Flared metaphysis of lower limb bone"], "types": ["T190"], "canonical_name": "Flared lower limb metaphysis", "definition": "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg. [HPO:probinson]"} {"concept_id": "C4022521", "aliases": [], "types": ["T033"], "canonical_name": "11 thoracic vertebrae", "definition": "The presence of 11 instead of the normal 12 thoracic vertebrae. [UToronto:bgallinger]"} {"concept_id": "C4022522", "aliases": [], "types": ["T190"], "canonical_name": "Decreased number of vertebrae"} {"concept_id": "C4022523", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal number of vertebrae", "definition": "A deviation from the normal number of vertebrae in the spinal column. [HPO:probinson]"} {"concept_id": "C4022524", "aliases": [], "types": ["T190"], "canonical_name": "Hypoplastic anterior commissure", "definition": "Underdevelopment of the anterior commissure. [UToronto:bgallinger]"} {"concept_id": "C4022525", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the anterior commissure", "definition": "An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. [UToronto:bgallinger]"} {"concept_id": "C4022526", "aliases": ["10 pairs of ribs"], "types": ["T190"], "canonical_name": "10 pairs of ribs", "definition": "Presence of only 10 (instead of the usual 12) pairs of ribs. [UToronto:bgallinger]"} {"concept_id": "C4022527", "aliases": ["Abnormality of wide portion of outermost thighbone"], "types": ["T190"], "canonical_name": "Distal femoral metaphyseal abnormality", "definition": "An anomaly of the metaphysis of the distal femur (close to the knee). [HPO:probinson]"} {"concept_id": "C4022528", "aliases": [], "types": ["T190"], "canonical_name": "Metaphyseal chondromatosis of ulna"} {"concept_id": "C4022529", "aliases": [], "types": ["T190"], "canonical_name": "Metaphyseal chondromatosis of radius"} {"concept_id": "C4022530", "aliases": [], "types": ["T047"], "canonical_name": "Metaphyseal chondromatosis of femur"} {"concept_id": "C4022531", "aliases": [], "types": ["T047"], "canonical_name": "Metaphyseal chondromatosis of tibia"} {"concept_id": "C4022532", "aliases": ["Irregularity of wide portion of calf bone"], "types": ["T190"], "canonical_name": "Fibular metaphyseal irregularity", "definition": "Irregularity of the normally smooth surface of a metaphysis of a fibula. [HPO:probinson]"} {"concept_id": "C4022533", "aliases": [], "types": ["T190"], "canonical_name": "Tibial metaphyseal irregularity", "definition": "Irregularity of the normally smooth surface of a metaphysis of a tibia. [HPO:probinson]"} {"concept_id": "C4022534", "aliases": [], "types": ["T190"], "canonical_name": "Lower-limb metaphyseal irregularity", "definition": "Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg. [HPO:probinson]"} {"concept_id": "C4022535", "aliases": [], "types": ["T033"], "canonical_name": "Atrophic superior cerebellar peduncle", "definition": "Atrophy of the superior cerebellar peduncle. [HPO:probinson]"} {"concept_id": "C4022536", "aliases": [], "types": ["T033"], "canonical_name": "Splayed superior cerebellar peduncle", "definition": "Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle. [HPO:probinson]"} {"concept_id": "C4022537", "aliases": ["Triangle shaped tongue", "Triangular tongue"], "types": ["T047"], "canonical_name": "Triangular tongue", "definition": "A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle. [UToronto:bgallinger]"} {"concept_id": "C4022538", "aliases": [], "types": ["T190"], "canonical_name": "Cervical C3/C4 vertebral fusion", "definition": "Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. []"} {"concept_id": "C4022539", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic L5 vertebral pedicle", "definition": "Underdeveloped pedicle of the fifth lumbar vertebra. [UToronto:bgallinger]"} {"concept_id": "C4022540", "aliases": [], "types": ["T190"], "canonical_name": "Hypoplastic vertebral pedicle", "definition": "Underdeveloped vertebral pedicle. [HPO:probinson]"} {"concept_id": "C4022541", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal vertebral pedicle morphology", "definition": "Abnormal morphology of a vertebral pedical. [UToronto:bgallinger]"} {"concept_id": "C4022542", "aliases": ["Abnormal scrotum position"], "types": ["T190"], "canonical_name": "Ectopic scrotum", "definition": "Scrotum in a position other than the usual position inferior to the base of the penis. [PMID:23650202]"} {"concept_id": "C4022543", "aliases": ["Extra scrotum"], "types": ["T190"], "canonical_name": "Accessory scrotum", "definition": "Additional scrotum, or part of a scrotum in an abnormal location. [PMID:23650202]"} {"concept_id": "C4022544", "aliases": [], "types": ["T033"], "canonical_name": "Reduced red cell adenosine deaminase level", "definition": "Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. [HPO:probinson]"} {"concept_id": "C4022545", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal erythrocyte enzyme level", "definition": "An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. []"} {"concept_id": "C4022546", "aliases": [], "types": ["T033"], "canonical_name": "Reduced erythrocyte 2,3-diphosphoglycerate concentration", "definition": "This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. [HPO:probinson]"} {"concept_id": "C4022547", "aliases": [], "types": ["T033"], "canonical_name": "Elevated red cell adenosine deaminase level", "definition": "Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. [HPO:probinson, PMID:3348976]"} {"concept_id": "C4022548", "aliases": [], "types": ["T190"], "canonical_name": "Hyperplastic callus formation", "definition": "Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. [HPO:probinson, PMID:12913845, PMID:17451374]"} {"concept_id": "C4022549", "aliases": [], "types": ["T033"], "canonical_name": "Calcification of the interosseus membrane of the forearm", "definition": "Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna. [HPO:probinson]"} {"concept_id": "C4022551", "aliases": ["Wide penis"], "types": ["T190"], "canonical_name": "Wide penis", "definition": "Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age. [PMID:23650202]"} {"concept_id": "C4022552", "aliases": ["Narrow penis"], "types": ["T190"], "canonical_name": "Narrow penis", "definition": "Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age. [HPO:probinson, PMID:23650202]"} {"concept_id": "C4022553", "aliases": ["Decreased genital pigmentation"], "types": ["T033"], "canonical_name": "Hypopigmented genitalia", "definition": "Localized or generalized decreased genital pigmentation. [HPO:probinson, PMID:23650202]"} {"concept_id": "C4022554", "aliases": ["Increased genital pigmentation"], "types": ["T033"], "canonical_name": "Hyperpigmented genitalia", "definition": "Localized or generalized increased genital pigmentation. []"} {"concept_id": "C4022555", "aliases": [], "types": ["T033"], "canonical_name": "Small intestinal polyposis", "definition": "The presence of multiple polyps in the small intestine. [HPO:probinson]"} {"concept_id": "C4022556", "aliases": [], "types": ["T047"], "canonical_name": "Large intestinal polyposis", "definition": "The presence of multiple polyps in the large intestine. [HPO:probinson]"} {"concept_id": "C4022557", "aliases": [], "types": ["T049"], "canonical_name": "Defective T cell proliferation", "definition": "A reduced ability of a T cell population to expand by cell division following T cell activation. [HPO:probinson]"} {"concept_id": "C4022558", "aliases": ["Absence of mature B cells"], "types": ["T033"], "canonical_name": "Absent circulating B cells", "definition": "Complete lack of mature B cells, that is, of B cells that have left the bone marrow. [HPO:probinson]"} {"concept_id": "C4022559", "aliases": [], "types": ["T033"], "canonical_name": "Absence of memory B cells", "definition": "Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. [HPO:probinson]"} {"concept_id": "C4022560", "aliases": ["Blood clot in splanchnic vein"], "types": ["T047"], "canonical_name": "Splanchnic vein thrombosis", "definition": "Thrombosis within the hepatic portal system."} {"concept_id": "C4022561", "aliases": [], "types": ["T033"], "canonical_name": "Maternal first trimester fever", "definition": "The occurence of fever in a mother during the first trimester of pregnancy. [HPO:probinson, PMID:24917213]"} {"concept_id": "C4022562", "aliases": ["Underdeveloped upper arm muscles"], "types": ["T190"], "canonical_name": "Hypoplasia of the upper arm musculature", "definition": "Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis. [HPO:probinson]"} {"concept_id": "C4022563", "aliases": ["Abnormality of muscle size"], "types": ["T033"], "canonical_name": "Abnormality of muscle size", "definition": "Abnormalities of the overall muscle bulk based on clinical observation. [Neuromics:vstraub]"} {"concept_id": "C4022564", "aliases": ["Extremely elevated phospho-CK serum level", "Extremely elevated CPK", "Extremely high CPK level", "Extremely elevated creatine phosphokinase", "Extremely elevated serum CK level"], "types": ["T033"], "canonical_name": "Extremely elevated creatine kinase", "definition": "An increased creatine kinase level more than 50X above the upper normal level. [https://orcid.org/0000-0001-7941-2961, Neuromics:vstraub]"} {"concept_id": "C4022565", "aliases": ["Highly elevated serum phosph-CK", "Highly elevated serum CPK", "Highly elevated serum CK", "Highly elevated CPK", "Highly elevated creatine phosphokinase"], "types": ["T033"], "canonical_name": "Highly elevated creatine kinase", "definition": "An increased CPK level between 4X and 50X above the upper normal level. [Neuromics:vstraub]"} {"concept_id": "C4022566", "aliases": [], "types": ["T033"], "canonical_name": "Increased sarcoplasmic glycogen", "definition": "Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers. [HPO:probinson]"} {"concept_id": "C4022567", "aliases": ["Glycogen accumulation in muscle fibre lysosomes"], "types": ["T033"], "canonical_name": "Glycogen accumulation in muscle fiber lysosomes", "definition": "An increased amount of glycogen in muscle tissue found specifically in lysosomes. [Neuromics:vstraub]"} {"concept_id": "C4022568", "aliases": ["Central core regions in muscle fibres"], "types": ["T033"], "canonical_name": "Central core regions in muscle fibers", "definition": "The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. [Neuromics:vstraub, PMID:17504518]"} {"concept_id": "C4022569", "aliases": ["Accumulation of muscle fibre valosin-containing protein"], "types": ["T034"], "canonical_name": "Accumulation of muscle fiber valosin-containing protein", "definition": "Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy. [Neuromics:vstraub]"} {"concept_id": "C4022570", "aliases": ["Abnormal muscle fibre valosin-containing protein"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber valosin-containing protein", "definition": "A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family. [Neuromics:vstraub]"} {"concept_id": "C4022571", "aliases": ["Accumulation of muscle fibre myotilin"], "types": ["T190"], "canonical_name": "Accumulation of muscle fiber myotilin", "definition": "Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy. [Neuromics:vstraub]"} {"concept_id": "C4022572", "aliases": ["Abnormal muscle fibre myotilin"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber myotilin", "definition": "A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein. [Neuromics:vstraub]"} {"concept_id": "C4022573", "aliases": ["Abnormal muscle fibre desmin"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber desmin", "definition": "A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein. [Neuromics:vstraub]"} {"concept_id": "C4022574", "aliases": [], "types": ["T047"], "canonical_name": "Limb apraxia", "definition": "Difficulty in performing the correct execution of limbs movements in absence of motor impairment. [ICM:PCaroppo]"} {"concept_id": "C4022575", "aliases": [], "types": ["T033"], "canonical_name": "Inertia", "definition": "Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example). [ICM:PCaroppo]"} {"concept_id": "C4022576", "aliases": [], "types": ["T033"], "canonical_name": "Slow pupillary light response", "definition": "Reduced velocity and acceleration in the pupillary light response. [PMID:974056, UNCL:tevangelista]"} {"concept_id": "C4022577", "aliases": ["Ca channel antibody positivity", "Ca2+ channel antibody positivity"], "types": ["T033"], "canonical_name": "Calcium channel antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels. [PMID:7739683, UNCL:mbertoli]"} {"concept_id": "C4022578", "aliases": ["Acetylcholine receptor antibody positivity", "Anti-AChR antibody positivity"], "types": ["T033"], "canonical_name": "Anti-acetylcholine receptor antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. [UK:rheller]"} {"concept_id": "C4022579", "aliases": [], "types": ["T033"], "canonical_name": "EMG: incremental response of compound muscle action potential to repetitive nerve stimulation", "definition": "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation. [PMID:23970984, UK:rheller]"} {"concept_id": "C4022580", "aliases": ["Unfavourable response of muscle weakness to acetylcholine esterase inhibitors"], "types": ["T033"], "canonical_name": "Unfavorable response of muscle weakness to acetylcholine esterase inhibitors", "definition": "Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. [UK:rheller]"} {"concept_id": "C4022581", "aliases": ["Favourable response of weakness to acetylcholine esterase inhibitors"], "types": ["T033"], "canonical_name": "Favorable response of weakness to acetylcholine esterase inhibitors", "definition": "Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. [UK:rheller]"} {"concept_id": "C4022582", "aliases": [], "types": ["T033"], "canonical_name": "Response to drugs acting on neuromuscular transmission", "definition": "Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis. [UK:rheller]"} {"concept_id": "C4022583", "aliases": [], "types": ["T033"], "canonical_name": "Fatiguable weakness of proximal limb muscles", "definition": "A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [UK:rheller]"} {"concept_id": "C4022584", "aliases": [], "types": ["T033"], "canonical_name": "Fatigable weakness of neck muscles", "definition": "A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [UK:rheller]"} {"concept_id": "C4022585", "aliases": [], "types": ["T033"], "canonical_name": "Fatigable weakness of distal limb muscles", "definition": "A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [UK:rheller]"} {"concept_id": "C4022586", "aliases": [], "types": ["T033"], "canonical_name": "Fatigable weakness of skeletal muscles", "definition": "A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. []"} {"concept_id": "C4022587", "aliases": [], "types": ["T033"], "canonical_name": "Fatigable weakness of respiratory muscles", "definition": "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [UNCL:mbertoli]"} {"concept_id": "C4022588", "aliases": [], "types": ["T033"], "canonical_name": "Fatigable weakness of swallowing muscles", "definition": "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [PMID:17986328, UK:rheller]"} {"concept_id": "C4022589", "aliases": [], "types": ["T033"], "canonical_name": "Fatigable weakness of speech muscles", "definition": "A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [PMID:17986328, UNCL:hlochmueller]"} {"concept_id": "C4022590", "aliases": [], "types": ["T033"], "canonical_name": "Fatigable weakness of chewing muscles", "definition": "A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [PMID:17986328, UNCL:tevangelista]"} {"concept_id": "C4022591", "aliases": [], "types": ["T033"], "canonical_name": "Fatigable weakness of bulbar muscles", "definition": "A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [HPO:probinson, PMID:17986328, UNCL:mbertoli]"} {"concept_id": "C4022592", "aliases": [], "types": ["T033"], "canonical_name": "Oral motor hypotonia", "definition": "Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior. []"} {"concept_id": "C4022593", "aliases": ["Tremor of a body part"], "types": ["T033"], "canonical_name": "Tremor by anatomical site", "definition": "Tremor classified by the affected body part. [HPO:probinson]"} {"concept_id": "C4022594", "aliases": [], "types": ["T033"], "canonical_name": "Isometric tremor", "definition": "An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist). [HPO:probinson, PMID:21404980]"} {"concept_id": "C4022595", "aliases": [], "types": ["T047"], "canonical_name": "Tetraplegia/tetraparesis", "definition": "Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. []"} {"concept_id": "C4022596", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal peripheral action potential amplitude", "definition": "An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve. []"} {"concept_id": "C4022597", "aliases": ["Abnormality of CNS electrophysiology"], "types": ["T033"], "canonical_name": "Abnormality of central nervous system electrophysiology"} {"concept_id": "C4022598", "aliases": [], "types": ["T033"], "canonical_name": "Asymmetric peripheral demyelination", "definition": "Loss of myelin from peripheral nerves in a pattern that differs between right and left. [HPO:jbaets]"} {"concept_id": "C4022599", "aliases": [], "types": ["T033"], "canonical_name": "Increased peripheral myelin thickness", "definition": "Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion. [HPO:jbeats]"} {"concept_id": "C4022600", "aliases": [], "types": ["T019"], "canonical_name": "Peripheral amyelination", "definition": "Congenital absence of the myelin sheath on a nerve. [HPO:jbeats, PMID:22246888]"} {"concept_id": "C4022601", "aliases": [], "types": ["T047"], "canonical_name": "Cystic artery pseudoaneurysm", "definition": "Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue. [HPO:probinson, PMID:24394852]"} {"concept_id": "C4022602", "aliases": [], "types": ["T190"], "canonical_name": "Temporal artery tortuosity", "definition": "The presence of an increased number of twists and turns of the temporal artery. [HPO:probinson]"} {"concept_id": "C4022603", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal vascular physiology", "definition": "Abnormality of vascular function. [HPO:probinson]"} {"concept_id": "C4022604", "aliases": [], "types": ["T047"], "canonical_name": "Glomerulomegaly", "definition": "Glomerular enlargement greater than the fiftieth percentile."} {"concept_id": "C4022605", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal liver parenchyma morphology", "definition": "A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. [HPO:probinson, PMID:11157536]"} {"concept_id": "C4022606", "aliases": ["Lack of bowel sounds"], "types": ["T033"], "canonical_name": "Lack of bowel sounds", "definition": "Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope. [HPO:probinson]"} {"concept_id": "C4022607", "aliases": ["Abnormality of hairline at back of head"], "types": ["T190"], "canonical_name": "Abnormality of the posterior hairline", "definition": "An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair. [HPO:probinson]"} {"concept_id": "C4022608", "aliases": ["Bleeding from mouth", "Oral cavity bleeding", "Oral cavity hemorrhage"], "types": ["T046"], "definition": "Recurrent or excessive bleeding from the mouth. [HPO:cmiller]", "canonical_name": "Oral cavity haemorrhage"} {"concept_id": "C4022609", "aliases": [], "types": ["T046"], "canonical_name": "Excessive bleeding after a venipuncture", "definition": "An abnormal high amount of bleeding following the procedure of taking a blood sample. [HPO:cmiller]"} {"concept_id": "C4022610", "aliases": ["Excessive bleeding from superficial cuts"], "types": ["T046"], "canonical_name": "Excessive bleeding from superficial cuts", "definition": "An abnormally increased degree of bleeding following a superfical injury to the surface of the skin. [HPO:cmiller]"} {"concept_id": "C4022611", "aliases": ["Prolonged bleeding following circumcision"], "types": ["T046"], "canonical_name": "Prolonged bleeding following circumcision", "definition": "Bleeding that persists for a longer than usual time following circumcision. []"} {"concept_id": "C4022612", "aliases": [], "types": ["T046"], "canonical_name": "Enhanced ristocetin cofactor assay activity", "definition": "Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma. [HPO:cmiller]"} {"concept_id": "C4022613", "aliases": [], "types": ["T033"], "canonical_name": "Absence of intermediate von Willibrand factor multimers", "definition": "Lack of intermediate von Willebrand Factor multimers on gel electrophoresis. [HPO:cmiller]"} {"concept_id": "C4022614", "aliases": [], "types": ["T033"], "canonical_name": "Total absence von Willebrand factor multimers", "definition": "Complete absence of all von Willebrand factor multimers. [HPO:cmiller]"} {"concept_id": "C4022615", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal presence of ultra-large von Willebrand factor multimers", "definition": "Detection of abnormal ultra-large von Willebrand factor multimers. [HPO:cmiller, PMID:11756169, PMID:25983111]"} {"concept_id": "C4022616", "aliases": [], "types": ["T033"], "canonical_name": "Absence of large von Willibrand factor multimers", "definition": "Absence of large von Willebrand Factor multimers on gel electrophoresis. [HPO:cmiller]"} {"concept_id": "C4022617", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal von Willebrand factor multimer distribution", "definition": "Deviation from the normal von Willebrand factor multimer pattern. [HPO:cmiller]"} {"concept_id": "C4022618", "aliases": [], "types": ["T033"], "canonical_name": "Impaired von Willibrand factor collagen binding activity", "definition": "Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers. [HPO:cmiller, PMID:18809794]"} {"concept_id": "C4022619", "aliases": [], "types": ["T033"], "canonical_name": "Impaired ristocetin cofactor assay activity", "definition": "Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma. [HPO:cmiller]"} {"concept_id": "C4022620", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the endometrium", "definition": "An anomaly of the inner mucous membrane of the uterus. [HPO:probinson]"} {"concept_id": "C4022621", "aliases": ["Reduced muscle fibre lamin A/C"], "types": ["T033"], "canonical_name": "Reduced muscle fiber lamin A/C", "definition": "A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue. [HPO:probinson, UToronto:htrang]"} {"concept_id": "C4022622", "aliases": ["Abnormal muscle fibre lamin A/C"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber lamin A/C", "definition": "A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation. [HPO:probinson, PMID:24843229]"} {"concept_id": "C4022623", "aliases": ["Reduced muscle fibre perlecan"], "types": ["T033"], "canonical_name": "Reduced muscle fiber perlecan", "definition": "Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2). [HPO:probinson, UToronto:htrang]"} {"concept_id": "C4022624", "aliases": ["Reduced muscle fibre calpain-3"], "types": ["T033"], "canonical_name": "Reduced muscle fiber calpain-3", "definition": "Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue. [UToronto:htrang]"} {"concept_id": "C4022625", "aliases": ["Absent muscle fibre calpain-3"], "types": ["T033"], "canonical_name": "Absent muscle fiber calpain-3", "definition": "Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue. [UToronto:htrang]"} {"concept_id": "C4022626", "aliases": ["Abnormal muscle fibre calpain-3"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber calpain-3", "definition": "A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates. [HPO:probinson, PMID:24843229]"} {"concept_id": "C4022627", "aliases": ["Reduced muscle fibre emerin"], "types": ["T033"], "canonical_name": "Reduced muscle fiber emerin", "definition": "Immunohistochemistry reveals reduced emerin protein in the muscle biopsy. [UToronto:htrang]"} {"concept_id": "C4022628", "aliases": ["Absent muscle fibre emerin"], "types": ["T033"], "canonical_name": "Absent muscle fiber emerin", "definition": "Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy. [UToronto:htrang]"} {"concept_id": "C4022629", "aliases": ["Abnormal muscle fibre emerin"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber emerin", "definition": "A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue. [HPO:probinson]"} {"concept_id": "C4022630", "aliases": ["Reduced muscle fibre dysferlin"], "types": ["T034"], "canonical_name": "Reduced muscle fiber dysferlin", "definition": "Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy. [UToronto:htrang]"} {"concept_id": "C4022631", "aliases": ["Absent muscle fibre dysferlin"], "types": ["T033"], "canonical_name": "Absent muscle fiber dysferlin", "definition": "Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. [UToronto:htrang]"} {"concept_id": "C4022632", "aliases": ["Abnormal muscle fibre dysferlin"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber dysferlin", "definition": "A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing. [HPO:probinson, PMID:24843229]"} {"concept_id": "C4022633", "aliases": ["Abnormal muscle fibre alpha dystroglycan"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber alpha dystroglycan", "definition": "A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. []"} {"concept_id": "C4022634", "aliases": ["Reduced muscle fibre delta sarcoglycan"], "types": ["T033"], "canonical_name": "Reduced muscle fiber delta sarcoglycan", "definition": "Abnormally reduced amount of delta sarcoglycan in muscle. [PMID:26709803]"} {"concept_id": "C4022635", "aliases": ["Absent muscle fibre delta sarcoglycan"], "types": ["T190"], "canonical_name": "Absent muscle fiber delta sarcoglycan", "definition": "Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy. [PMID:26709803, UToronto:htrang]"} {"concept_id": "C4022636", "aliases": ["Absent muscle fibre gamma sarcoglycan"], "types": ["T033"], "canonical_name": "Absent muscle fiber gamma sarcoglycan", "definition": "Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy. [UToronto:htrang]"} {"concept_id": "C4022637", "aliases": ["Reduced muscle fibre gamma sarcoglycan"], "types": ["T033"], "canonical_name": "Reduced muscle fiber gamma sarcoglycan", "definition": "Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy. [UToronto:htrang]"} {"concept_id": "C4022638", "aliases": ["Reduced muscle fibre beta sarcoglycan"], "types": ["T033"], "canonical_name": "Reduced muscle fiber beta sarcoglycan", "definition": "Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy. [UToronto:htrang]"} {"concept_id": "C4022639", "aliases": ["Absent muscle fibre beta sarcoglycan"], "types": ["T033"], "canonical_name": "Absent muscle fiber beta sarcoglycan", "definition": "Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy. [UToronto:htrang]"} {"concept_id": "C4022640", "aliases": ["Abnormal muscle fibre delta sarcoglycan"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber delta sarcoglycan", "definition": "Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. [HPO:probinson, PMID:24843229, UToronto:htrang]"} {"concept_id": "C4022641", "aliases": ["Abnormal muscle fibre gamma sarcoglycan"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber gamma sarcoglycan", "definition": "Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. [HPO:probinson, PMID:24843229, UToronto:htrang]"} {"concept_id": "C4022642", "aliases": ["Abnormal muscle fibre beta sarcoglycan"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber beta sarcoglycan", "definition": "Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. [HPO:probinson, PMID:24843229, UToronto:htrang]"} {"concept_id": "C4022643", "aliases": ["Reduced muscle fibre alpha sarcoglycan"], "types": ["T033"], "canonical_name": "Reduced muscle fiber alpha sarcoglycan", "definition": "A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy. [UToronto:htrang]"} {"concept_id": "C4022644", "aliases": ["Absent muscle fibre alpha sarcoglycan"], "types": ["T033"], "canonical_name": "Absent muscle fiber alpha sarcoglycan", "definition": "Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy. [UToronto:htrang]"} {"concept_id": "C4022645", "aliases": ["Abnormal muscle fibre alpha sarcoglycan"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber alpha sarcoglycan", "definition": "Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. [HPO:probinson, PMID:24843229, UToronto:htrang]"} {"concept_id": "C4022646", "aliases": ["Reduced muscle fibre alpha dystroglycan"], "types": ["T033"], "canonical_name": "Reduced muscle fiber alpha dystroglycan", "definition": "Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. [HPO:probinson, PMID:11592034, UToronto:htrang]"} {"concept_id": "C4022647", "aliases": [], "types": ["T033"], "canonical_name": "Absent muscle dystrophin expression", "definition": "Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. [PMID:11917091, UToronto:htrang]"} {"concept_id": "C4022648", "aliases": ["Abnormal muscle fibre dystrophin expression"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber dystrophin expression", "definition": "A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina. [PMID:11917091, UToronto:HTrang]"} {"concept_id": "C4022649", "aliases": ["Reduced muscle fibre laminin beta 1"], "types": ["T033"], "canonical_name": "Reduced muscle fiber laminin beta 1", "definition": "A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. []"} {"concept_id": "C4022650", "aliases": ["Abnormal muscle fibre laminin beta 1"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber laminin beta 1", "definition": "A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. [HPO:probinson, PMID:9400354, UToronto:HTrang]"} {"concept_id": "C4022651", "aliases": ["Reduced muscle fibre merosin"], "types": ["T033"], "canonical_name": "Reduced muscle fiber merosin", "definition": "A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue. [HPO:Probinson]"} {"concept_id": "C4022652", "aliases": ["Abnormal muscle fibre merosin expression"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber merosin expression", "definition": "An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve. [HPO:probinson, PMID:2185464]"} {"concept_id": "C4022653", "aliases": ["Abnormal muscle fibre protein expression"], "types": ["T190"], "canonical_name": "Abnormal muscle fiber protein expression", "definition": "An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue. []"} {"concept_id": "C4022654", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal testosterone level"} {"concept_id": "C4022655", "aliases": ["Hypolactatorachia"], "types": ["T033"], "canonical_name": "Reduced CSF lactate", "definition": "Decreased concentration of lactate in the cerebrospinal fluid. []"} {"concept_id": "C4022656", "aliases": ["Abnormal CSF lactate level"], "types": ["T033"], "canonical_name": "Abnormal CSF lactate concentration", "definition": "Abnormal concentration of lactate in the cerebrospinal fluid. [HPO:probinson]"} {"concept_id": "C4022657", "aliases": ["Abnormal drinking behavior", "Abnormal drinking behaviour"], "types": ["T048"], "canonical_name": "Abnormal drinking behavior", "definition": "Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. []"} {"concept_id": "C4022658", "aliases": [], "types": ["T033"], "canonical_name": "Punctate periventricular T2 hyperintense foci", "definition": "Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter. []"} {"concept_id": "C4022659", "aliases": [], "types": ["T033"], "canonical_name": "Mitochondrial depletion", "definition": "An abnormal reduction in mitochondrial DNA content of cells. [PMID:23385875]"} {"concept_id": "C4022660", "aliases": [], "types": ["T033"], "canonical_name": "Autoimmune antibody positivity", "definition": "The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. []"} {"concept_id": "C4022661", "aliases": [], "types": ["T190"], "canonical_name": "Hyperconvex toenail", "definition": "When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity. []"} {"concept_id": "C4022662", "aliases": ["Abnormality of lateral ventricle"], "types": ["T190"], "canonical_name": "Abnormal lateral ventricle morphology", "definition": "A morphological anomaly of the lateral ventricle. []"} {"concept_id": "C4022663", "aliases": [], "types": ["T019"], "canonical_name": "Fused lumbar vertebrae", "definition": "A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another. []"} {"concept_id": "C4022664", "aliases": [], "types": ["T019"], "canonical_name": "Fused thoracic vertebrae", "definition": "A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another. []"} {"concept_id": "C4022665", "aliases": [], "types": ["T047"], "canonical_name": "Isothenuria", "definition": "Inability of the kidneys to produce either concentrated or dilute urine. []"} {"concept_id": "C4022666", "aliases": ["Partial absence of foot"], "types": ["T033"], "canonical_name": "Partial absence of foot", "definition": "An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals. [eom:6a2c173d3d7e3219, PMID:19125433]"} {"concept_id": "C4022667", "aliases": ["Small toe"], "types": ["T033"], "canonical_name": "Small toe", "definition": "Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual. [eom:4d06c726e63758c5, PMID:19125433]"} {"concept_id": "C4022668", "aliases": [], "types": ["T190"], "canonical_name": "Absent ray", "definition": "The absence of all phalanges of a digit and the associated metacarpal /metatarsal. [eom:603438e0616f4f69, PMID:19125433]"} {"concept_id": "C4022669", "aliases": ["Missing nasal cartilage", "Absent nasal cartilage", "Missing cartilage of nose"], "types": ["T033"], "definition": "Lack of a palpable nasal cartilage. [eom:73e4e8bb2eec316d, PMID:19152422]", "canonical_name": "Absent cartilage of nose"} {"concept_id": "C4022670", "aliases": ["Abnormality of cartilage of nose", "Abnormality of the nasal cartilage", "Deformity of nasal cartilage", "Deformity of cartilage of nose", "Anomaly of nasal cartilage", "Malformation of cartilage of nose", "Malformation of nasal cartilage", "Anomaly of cartilage of nose"], "types": ["T190"], "canonical_name": "Abnormality of the nasal cartilage", "definition": "A morphological anomaly of the nasal cartilage. []"} {"concept_id": "C4022671", "aliases": [], "types": ["T033"], "canonical_name": "Squared superior portion of helix", "definition": "Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual. [eom:ddce48fcd9ee46f4, PMID:19152421]"} {"concept_id": "C4022672", "aliases": [], "types": ["T033"], "canonical_name": "Auricular pit", "definition": "Small indentation in the lower part of the ascending helix, concha, or in the crus helix. [eom:1fe5d46deac24493, PMID:19152421]"} {"concept_id": "C4022673", "aliases": [], "types": ["T190"], "canonical_name": "Quelprud nodule", "definition": "Small cartilaginous prominence on the posterior concha. [eom:193d1645eb4eced8, PMID:19152421]"} {"concept_id": "C4022674", "aliases": [], "types": ["T033"], "canonical_name": "Auricular tag", "definition": "Small protrusion within the pinna. [eom:1b6d89bad30b8f18, PMID:19152421]"} {"concept_id": "C4022675", "aliases": ["Increased female sex drive"], "types": ["T033"], "canonical_name": "Increased female libido", "definition": "Elevated sexual desire in female []"} {"concept_id": "C4022676", "aliases": ["Decreased female sex drive"], "types": ["T033"], "canonical_name": "Decreased female libido", "definition": "Dminished sexual desire in female. []"} {"concept_id": "C4022677", "aliases": [], "types": ["T048"], "canonical_name": "Female anorgasmia", "definition": "The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal. [PMID:16391543]"} {"concept_id": "C4022678", "aliases": ["Abnormal female reproductive system physiology"], "types": ["T046"], "canonical_name": "Abnormal female reproductive system physiology"} {"concept_id": "C4022679", "aliases": ["Single fibre EMG abnormality"], "types": ["T190"], "canonical_name": "Single fiber EMG abnormality", "definition": "Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers. [HPO:probinson, PMID:21654930]"} {"concept_id": "C4022680", "aliases": ["Inability to close the eyelids", "Eyelids stay open"], "types": ["T047"], "canonical_name": "Lagopthalmos", "definition": "A condition in which the eyelids do not close to cover the eye completely. [PMID:20590416]"} {"concept_id": "C4022681", "aliases": [], "types": ["T046"], "canonical_name": "EMG: repetitive nerve stimulation abnormality", "definition": "Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz. [UToronto:HTrang]"} {"concept_id": "C4022682", "aliases": [], "types": ["T033"], "canonical_name": "Cold-sensitive myotonia", "definition": "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold. [PMID:14617673, UToronto:htrang]"} {"concept_id": "C4022683", "aliases": [], "types": ["T033"], "canonical_name": "Myotonia of the upper limb", "definition": "Slowed relaxation of muscles in the arm. [UToronto:htrang]"} {"concept_id": "C4022684", "aliases": [], "types": ["T033"], "canonical_name": "Myotonia of the lower limb", "definition": "Slowed relaxation of muscles in the leg. [UToronto:htrang]"} {"concept_id": "C4022685", "aliases": [], "types": ["T033"], "canonical_name": "Myotonia of the jaw", "definition": "Slowed relaxation of muscles in the jaw. [UToronto:htrang]"} {"concept_id": "C4022686", "aliases": [], "types": ["T033"], "canonical_name": "Myotonia of the face", "definition": "Slowed relaxation of muscles in the face. [UToronto:htrang]"} {"concept_id": "C4022687", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal motor evoked potentials", "definition": "An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways. [HPO:probinson, PMID:10402095]"} {"concept_id": "C4022688", "aliases": [], "types": ["T046"], "canonical_name": "Scapular muscle hypertrophy", "definition": "Muscle hypertrophy affecting the scapular muscles. [UToronto:htrang]"} {"concept_id": "C4022689", "aliases": [], "types": ["T046"], "canonical_name": "Paraspinal muscle hypertrophy", "definition": "Muscle hypertrophy affecting the paraspinal muscles. [UToronto:htrang]"} {"concept_id": "C4022690", "aliases": ["Overgrowth of neck muscles", "Increased size of neck muscles", "Large neck muscles", "Hypertrophy of cervical muscles"], "types": ["T033"], "canonical_name": "Neck muscle hypertrophy", "definition": "Muscle hypertrophy affecting the muscles of the neck. [UToronto:htrang]"} {"concept_id": "C4022691", "aliases": ["Large facial muscles", "Increased size of facial muscles"], "types": ["T033"], "canonical_name": "Facial muscle hypertrophy", "definition": "Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve). [UToronto:htrang]"} {"concept_id": "C4022692", "aliases": ["High hairline at back of head"], "types": ["T033"], "canonical_name": "High posterior hairline", "definition": "Hair on the neck extends less inferiorly than usual. [UToronto:htrang]"} {"concept_id": "C4022693", "aliases": [], "types": ["T019"], "canonical_name": "Posteriorly placed anus", "definition": "Posterior malposition of the anus. [UToronto:htrang]"} {"concept_id": "C4022694", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the uterine cervix", "definition": "An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. [HPO:probinson]"} {"concept_id": "C4022695", "aliases": ["Abnormality of vaginal lips", "Abnormality of the labia majora"], "types": ["T190"], "canonical_name": "Abnormal labia majora morphology", "definition": "An anomaly of the outer labia. [HPO:probinson]"} {"concept_id": "C4022696", "aliases": ["Abnormality of the labia minora", "Abnormality of the inner vaginal lips"], "types": ["T190"], "canonical_name": "Abnormal labia minora morphology", "definition": "An anomaly of the labia minora, the folds of skin between the outer labia. [HPO:probinson]"} {"concept_id": "C4022697", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal vas deferens morphology", "definition": "A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct. [HPO:probinson, MP:0002769]"} {"concept_id": "C4022698", "aliases": [], "types": ["T047"], "canonical_name": "Acephalic spermatozoa", "definition": "Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. [HPO:probinson, PMID:10402395]"} {"concept_id": "C4022699", "aliases": ["Sperm tail anomaly"], "types": ["T033"], "canonical_name": "Abnormal sperm tail morphology", "definition": "A structural abnormality of the sperm tail. [HPO:probinson, PMID:22198630]"} {"concept_id": "C4022700", "aliases": ["Sperm mid-piece anomaly"], "types": ["T033"], "canonical_name": "Abnormal sperm mid-piece morphology", "definition": "A structural abnormality of the sperm mid-piece. [HPO:22198630, HPO:probinson]"} {"concept_id": "C4022701", "aliases": ["Sperm neck anomaly"], "types": ["T033"], "canonical_name": "Abnormal sperm neck morphology", "definition": "A structural abnormality of the sperm neck. [HPO:probinson, PMID:22198630]"} {"concept_id": "C4022702", "aliases": ["Sperm head anomaly"], "types": ["T033"], "canonical_name": "Abnormal sperm head morphology", "definition": "A structural abnormality of the sperm head. [HPO:probinson, PMID:22198630]"} {"concept_id": "C4022703", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal male germ cell morphology", "definition": "A structural anomaly of a male reproductive cell. [HPO:probinson]"} {"concept_id": "C4022704", "aliases": ["Abnormal shape of a reproductive cell", "Abnormally shaped germ cell", "Abnormally shaped reproductive cell"], "types": ["T190"], "canonical_name": "Abnormal germ cell morphology", "definition": "Any structural anomaly of a reproductive cell. [HPO:probinson]"} {"concept_id": "C4022705", "aliases": [], "types": ["T190"], "canonical_name": "Decreased scrotal rugation", "definition": "Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum. [HPO:probinson]"} {"concept_id": "C4022706", "aliases": [], "types": ["T033"], "canonical_name": "Increased scrotal rugation", "definition": "Increased number or density of the folded ridges (wrinkles) of skin of the scrotum. [HPO:probinson]"} {"concept_id": "C4022707", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal scrotal rugation", "definition": "Anomaly of the folded ridges (wrinkles) of skin of the scrotum. [HPO:probinson]"} {"concept_id": "C4022708", "aliases": [], "types": ["T190"], "canonical_name": "Midshaft hypospadias", "definition": "Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis. [HPO:probinson, PMID:12371222]"} {"concept_id": "C4022709", "aliases": [], "types": ["T047"], "canonical_name": "Hepatic bridging fibrosis", "definition": "Hepatic fibrosis that reaches from a portal area to another portal area. [HPO:probinson, PMID:14568255]"} {"concept_id": "C4022710", "aliases": [], "types": ["T191"], "canonical_name": "Single trichilemmoma", "definition": "Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle. [HPO:probinson]"} {"concept_id": "C4022711", "aliases": [], "types": ["T082"], "canonical_name": "Spatial pattern", "definition": "The pattern by which a phenotype affects one or more regions of the body. [HPO:probinson]"} {"concept_id": "C4022713", "aliases": [], "types": ["T047"], "canonical_name": "Biventricular noncompaction cardiomyopathy", "definition": "Noncompaction cardiomyopathy that affects both ventricles. [HPO:probinson]"} {"concept_id": "C4022714", "aliases": [], "types": ["T047"], "canonical_name": "Right ventricular noncompaction cardiomyopathy", "definition": "A predominantly right ventricular variant of isolated noncompaction cardiomyopathy. [HPO:probinson, PMID:23921774]"} {"concept_id": "C4022715", "aliases": ["Underdeveloped female external genitalia"], "types": ["T190"], "canonical_name": "Hypoplastic female external genitalia", "definition": "Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris). [HPO:probinson]"} {"concept_id": "C4022716", "aliases": ["Two underdeveloped breasts"], "types": ["T190"], "canonical_name": "Bilateral breast hypoplasia", "definition": "Underdevelopment of the breast on both sides. [HPO:probinson]"} {"concept_id": "C4022717", "aliases": ["Thin base of nose", "Decreased width of nasal base", "Narrow nasal base", "Decreased width of base of nose", "Narrow base of nose", "Thin nasal base"], "types": ["T033"], "canonical_name": "Narrow nasal base", "definition": "Decreased distance between the attachments of the alae nasi to the face. [HPO:probinson, PMID:19152422]"} {"concept_id": "C4022718", "aliases": ["Malformation of nasal base", "Anomaly of base of nose", "Deformity of base of nose", "Abnormality of base of nose", "Malformation of base of nose", "Anomaly of nasal base", "Abnormal nasal base", "Deformity of nasal base"], "types": ["T190"], "canonical_name": "Abnormal nasal base", "definition": "An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face. [HPO:probinson, PMID:19152422]"} {"concept_id": "C4022719", "aliases": ["Paralysis of one side of the face", "Unilateral facial paralysis", "Facial droop", "Unilateral facial palsy"], "types": ["T033"], "definition": "One-sided weakness of the muscles of facial expression and eye closure. [HPO:probinson]", "canonical_name": "Unilateral facial muscle paralysis"} {"concept_id": "C4022720", "aliases": ["Periventricular cerebral white matter hypodensities"], "types": ["T033"], "canonical_name": "Periventricular white matter hypodensities", "definition": "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. [HPO:probinson, PMID:16239634]"} {"concept_id": "C4022721", "aliases": [], "types": ["T190"], "canonical_name": "Absent ossification of thoracic vertebral bodies", "definition": "A lack of bone mineralization of one or more body of thoracic vertebra. [HPO:probinson]"} {"concept_id": "C4022722", "aliases": ["Abnormal maturation of long bone in upper arm"], "types": ["T190"], "canonical_name": "Abnormal humeral ossification", "definition": "An anomaly of the process of formation of bone in the humerus. [HPO:probinson]"} {"concept_id": "C4022723", "aliases": [], "types": ["T033"], "canonical_name": "Mid-frequency hearing loss", "definition": "A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz). [HPO:probinson]"} {"concept_id": "C4022724", "aliases": [], "types": ["T033"], "canonical_name": "Transient hearing impairment", "definition": "Hearing loss that occurs acutely and resolves completely. [PMID:21776317]"} {"concept_id": "C4022726", "aliases": ["Abnormality of the ciliary body"], "types": ["T190"], "canonical_name": "Abnormal ciliary body morphology", "definition": "A structural anomaly of the ciliary body. [CINEAS:asollie]"} {"concept_id": "C4022727", "aliases": [], "types": ["T033"], "canonical_name": "Stellate iris", "definition": "A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel. [CINEAS:asollie]"} {"concept_id": "C4022728", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal upper to lower segment ratio", "definition": "A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. [HPO:probinson]"} {"concept_id": "C4022729", "aliases": ["Increased arm span"], "types": ["T033"], "canonical_name": "Increased arm span", "definition": "Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). [HPO:probinson]"} {"concept_id": "C4022730", "aliases": ["Reduced arm span"], "types": ["T190"], "canonical_name": "Reduced arm span", "definition": "Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). [HPO:probinson]"} {"concept_id": "C4022731", "aliases": ["Abnormal arm span"], "types": ["T190"], "canonical_name": "Abnormal arm span", "definition": "A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) [HPO:probinson]"} {"concept_id": "C4022732", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal placental size", "definition": "A deviation from normal size of the placenta. [HPO:probinson]"} {"concept_id": "C4022733", "aliases": [], "types": ["T190"], "canonical_name": "Widened cerebral subarachnoid space", "definition": "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum. [UToronto:htrang]"} {"concept_id": "C4022734", "aliases": [], "types": ["T190"], "canonical_name": "Widened cerebellar subarachnoid space", "definition": "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum. [UToronto:htrang]"} {"concept_id": "C4022735", "aliases": [], "types": ["T190"], "canonical_name": "Cerebral white matter atrophy", "definition": "The presence of atrophy (wasting) of the cerebral white matter. [UToronto:htrang]"} {"concept_id": "C4022736", "aliases": [], "types": ["T048"], "canonical_name": "Impaired social reciprocity", "definition": "A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first. [KI:phemming]"} {"concept_id": "C4022737", "aliases": [], "types": ["T046"], "canonical_name": "Neurodevelopmental abnormality", "definition": "A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. [KI:phemming]"} {"concept_id": "C4022738", "aliases": ["NDD"], "types": ["T033"], "canonical_name": "Neurodevelopmental delay", "definition": "Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. [ORCID:0000-0002-6670-9157, PMID:31783983]"} {"concept_id": "C4022739", "aliases": ["Abnormal neuron shape", "Abnormal neuronal morphology"], "types": ["T190"], "canonical_name": "Abnormal neuron morphology", "definition": "A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions. [KI:phemming, PMID:28723006]"} {"concept_id": "C4022740", "aliases": [], "types": ["T033"], "canonical_name": "CSF polymorphonuclear pleocytosis", "definition": "An increased polymorphonuclear cell count in the cerebrospinal fluid. [KI:phemming]"} {"concept_id": "C4022741", "aliases": [], "types": ["T033"], "canonical_name": "Enlarged brainstem", "definition": "Abnormal increase in size of the brainstem. [UToronto:htrang]"} {"concept_id": "C4022742", "aliases": [], "types": ["T033"], "canonical_name": "CNS hypermyelination", "definition": "Increased amount of myelin in the central nervous system. [UToronto:htrang]"} {"concept_id": "C4022743", "aliases": [], "types": ["T033"], "canonical_name": "T2 hypointense basal ganglia", "definition": "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia. [HPO:probinson]"} {"concept_id": "C4022744", "aliases": [], "types": ["T033"], "canonical_name": "Focal T2 hypointense basal ganglia lesion", "definition": "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia. [HPO:probinson]"} {"concept_id": "C4022745", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal basal ganglia MRI signal intensity", "definition": "A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. [UToronto:htrang]"} {"concept_id": "C4022746", "aliases": [], "types": ["T033"], "canonical_name": "T2 hypointense brainstem", "definition": "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem. [UToronto:htrang]"} {"concept_id": "C4022747", "aliases": [], "types": ["T033"], "canonical_name": "Focal T2 hypointense brainstem lesion", "definition": "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem. [UToronto:htrang]"} {"concept_id": "C4022748", "aliases": [], "types": ["T033"], "canonical_name": "Focal T2 hyperintense brainstem lesion", "definition": "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem. [UToronto:htrang]"} {"concept_id": "C4022749", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal brainstem MRI signal intensity", "definition": "A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem. [UToronto:htrang]"} {"concept_id": "C4022750", "aliases": ["Thin fingernail"], "types": ["T033"], "canonical_name": "Thin fingernail", "definition": "Fingernail that appears thin when viewed on end. [HPO:probinson, PMID:19125433]"} {"concept_id": "C4022751", "aliases": [], "types": ["T019"], "canonical_name": "Ectopic anterior pituitary gland", "definition": "Abnormal anatomic location of the anterior pituitary gland. [HPO:probinson]"} {"concept_id": "C4022752", "aliases": [], "types": ["T190"], "canonical_name": "Saccular descending thoracic aortic aneurysm", "definition": "An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall [HPO:probinson]"} {"concept_id": "C4022753", "aliases": [], "types": ["T190"], "canonical_name": "Fusiform descending thoracic aortic aneurysm", "definition": "A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall [HPO:probinson]"} {"concept_id": "C4022754", "aliases": ["Recurrent low potassium"], "types": ["T033"], "canonical_name": "Episodic hypokalemia", "definition": "An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes. [HPO:probinson]"} {"concept_id": "C4022755", "aliases": ["Functional abnormality of the GI tract", "GI dysfunction"], "types": ["T046"], "canonical_name": "Functional abnormality of the gastrointestinal tract", "definition": "Abnormal functionality of the gastrointestinal tract. [HPO:probinson]"} {"concept_id": "C4022756", "aliases": ["Profound hearing impairment"], "types": ["T047"], "canonical_name": "Profound hearing impairment", "definition": "A profound (essentially complete) form of hearing impairment. [HPO:probinson]"} {"concept_id": "C4022757", "aliases": ["Moderate hearing impairment"], "types": ["T033"], "canonical_name": "Moderate hearing impairment", "definition": "The presence of a moderate form of hearing impairment. [HPO:probinson]"} {"concept_id": "C4022758", "aliases": ["Mild hearing impairment"], "types": ["T033"], "canonical_name": "Mild hearing impairment", "definition": "The presence of a mild form of hearing impairment. [HPO:probinson]"} {"concept_id": "C4022759", "aliases": [], "types": ["T190"], "canonical_name": "Delayed ossification of vertebral epiphysis", "definition": "A delay in the process of formation and maturation of the epiphysis of one or more vertebrae. [HPO:probinson]"} {"concept_id": "C4022760", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal brain choline/creatine ratio by MRS", "definition": "A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS). [UToronto:htrang]"} {"concept_id": "C4022761", "aliases": ["Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy"], "types": ["T033"], "canonical_name": "Reduced brain N-acetyl aspartate level by MRS", "definition": "A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). [UToronto:htrang]"} {"concept_id": "C4022762", "aliases": [], "types": ["T033"], "canonical_name": "Elevated brain lactate level by MRS", "definition": "An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). [UToronto:htrang]"} {"concept_id": "C4022763", "aliases": [], "types": ["T033"], "canonical_name": "Elevated brain choline level by MRS", "definition": "An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). [UToronto:htrang]"} {"concept_id": "C4022764", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal metabolic brain imaging by MRS", "definition": "An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS). [HPO:probinson]"} {"concept_id": "C4022765", "aliases": ["Abnormality of the subarachnoid space"], "types": ["T190"], "canonical_name": "Abnormal subarachnoid space morphology", "definition": "Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid. [UToronto:htrang]"} {"concept_id": "C4022766", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal large intestine physiology", "definition": "A functional anomaly of the large intestine. [HPO:probinson]"} {"concept_id": "C4022767", "aliases": ["Anomaly of shaft of long bone of lower limb"], "types": ["T190"], "canonical_name": "Anomaly of lower limb diaphyses", "definition": "A structural abnormality of a diaphysis of the leg. [UToronto:htrang]"} {"concept_id": "C4022768", "aliases": [], "types": ["T190"], "canonical_name": "Cerebellar gliosis", "definition": "Focal proliferation of glial cells in the cerebellum. [UToronto:htrang]"} {"concept_id": "C4022769", "aliases": [], "types": ["T033"], "canonical_name": "Small basal ganglia", "definition": "Decreased size of the basal ganglia. [HPO:probinson]"} {"concept_id": "C4022770", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal thalamic MRI signal intensity", "definition": "A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus. [HPO:probinson]"} {"concept_id": "C4022771", "aliases": [], "types": ["T033"], "canonical_name": "Decreased thalamic volume", "definition": "A reduction in the quantity of space occupied by the thalamus. [UToronto:htrang]"} {"concept_id": "C4022772", "aliases": [], "types": ["T033"], "canonical_name": "Enlarged thalamic volume", "definition": "An increase in the quantity of space occupied by the thalamus. [UToronto:htrang]"} {"concept_id": "C4022773", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal thalamic size", "definition": "Deviation from the normal range of size of the thalamus. [UToronto:htrang]"} {"concept_id": "C4022774", "aliases": [], "types": ["T033"], "canonical_name": "Focal T2 hyperintense thalamic lesion", "definition": "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus. [HPO:probinson]"} {"concept_id": "C4022775", "aliases": [], "types": ["T033"], "canonical_name": "Focal T2 hypointense thalamic lesion", "definition": "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus. [HPO:probinson]"} {"concept_id": "C4022776", "aliases": [], "types": ["T033"], "canonical_name": "T2 hypointense thalamus", "definition": "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus. [HPO:probinson]"} {"concept_id": "C4022777", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal pineal melatonin secretion", "definition": "An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland. [PMID:22724080, UToronto:htrang]"} {"concept_id": "C4022778", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of pineal physiology", "definition": "A functional abnormality of the pineal gland. [UToronto:htrang]"} {"concept_id": "C4022779", "aliases": [], "types": ["T033"], "canonical_name": "Increased pineal volume", "definition": "An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland. [UToronto:htrang]"} {"concept_id": "C4022780", "aliases": [], "types": ["T033"], "canonical_name": "Decreased pineal volume", "definition": "An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland. [PMID:24456088, UToronto:htrang]"} {"concept_id": "C4022781", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal pineal volume", "definition": "An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland. [UToronto:htrang]"} {"concept_id": "C4022782", "aliases": ["Abnormality of pineal morphology"], "types": ["T190"], "canonical_name": "Abnormal pineal morphology", "definition": "A structural abnormality of the pineal gland. [UToronto:htrang]"} {"concept_id": "C4022783", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the pineal gland", "definition": "An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin. [HPO:probinson]"} {"concept_id": "C4022784", "aliases": [], "types": ["T033"], "canonical_name": "Widened interpedicular distance", "definition": "An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. [UToronto:htrang]"} {"concept_id": "C4022785", "aliases": [], "types": ["T033"], "canonical_name": "Iron accumulation in substantia nigra", "definition": "An anomalous build up of iron (Fe) in the substantia nigra. [HPO:probinson]"} {"concept_id": "C4022786", "aliases": [], "types": ["T033"], "canonical_name": "Iron accumulation in globus pallidus", "definition": "An abnormal build up of iron (Fe) in the globus pallidus. [HPO:probinson]"} {"concept_id": "C4022787", "aliases": ["Brain copper accumulation", "Copper accumulation in brain"], "types": ["T033"], "canonical_name": "Copper accumulation in brain", "definition": "An anomalous build up of copper (Cu) in the brain. [HPO:probinson]"} {"concept_id": "C4022788", "aliases": ["Absent upper vagina"], "types": ["T190"], "canonical_name": "Aplasia of the upper vagina", "definition": "A failure to develop of the upper vagina. [HPO:probinson]"} {"concept_id": "C4022789", "aliases": [], "types": ["T046"], "canonical_name": "Regional left ventricular wall motion abnormality", "definition": "An abnormal motion of a segment of the left ventricle during the cardiac cycle. [HPO:probinson]"} {"concept_id": "C4022790", "aliases": [], "types": ["T033"], "canonical_name": "Severely reduced ejection fraction", "definition": "A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent. [HPO:probinson, PMID:16376782, PMID:27206819]"} {"concept_id": "C4022791", "aliases": [], "types": ["T033"], "canonical_name": "Moderately reduced ejection fraction", "definition": "A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. [HPO:probinson, PMID:16376782, PMID:27206819]"} {"concept_id": "C4022792", "aliases": [], "types": ["T033"], "canonical_name": "Reduced ejection fraction", "definition": "A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. [HPO:probinson]"} {"concept_id": "C4022793", "aliases": [], "types": ["T033"], "canonical_name": "Mildly reduced ejection fraction", "definition": "A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent. [HPO:probinson, PMID:16376782, PMID:27206819]"} {"concept_id": "C4022794", "aliases": [], "types": ["T033"], "canonical_name": "Parietal hypometabolism in FDG PET", "definition": "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan. [HPO:probinson, PMID:15073255]"} {"concept_id": "C4022795", "aliases": [], "types": ["T033"], "canonical_name": "Hypothalamic hypometabolism in FDG PET", "definition": "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan. [HPO:probinson]"} {"concept_id": "C4022796", "aliases": [], "types": ["T033"], "canonical_name": "Thalamic hypometabolism in FDG PET", "definition": "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan. [HPO:probinson]"} {"concept_id": "C4022797", "aliases": [], "types": ["T033"], "canonical_name": "Prefrontal hypometabolism in FDG PET", "definition": "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan. [HPO:probinson, PMID:23585882]"} {"concept_id": "C4022798", "aliases": ["Abnormal brain FDG PET scan"], "types": ["T033"], "canonical_name": "Abnormal brain FDG positron emission tomography", "definition": "An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity. [HPO:probinson]"} {"concept_id": "C4022799", "aliases": ["Abnormal brain PET scan"], "types": ["T190"], "canonical_name": "Abnormal brain positron emission tomography", "definition": "A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain. [HPO:probinson]"} {"concept_id": "C4022800", "aliases": [], "types": ["T033"], "canonical_name": "Reduced CSF dopamine level", "definition": "Decreased concentration of dopamine in the cerebrospinal fluid (CSF). [Monarch:mhaendel]"} {"concept_id": "C4022801", "aliases": [], "types": ["T033"], "canonical_name": "Elevated CSF dopamine level", "definition": "Increased concentration of dopamine in the cerebrospinal fluid (CSF). [Monarch:mhaendel]"} {"concept_id": "C4022802", "aliases": ["Abnormal CSF dopamine level"], "types": ["T033"], "canonical_name": "Abnormal CSF dopamine concentration", "definition": "Abnormal concentration of dopamine in the cerebrospinal fluid (CSF). [Monarch:mhaendel]"} {"concept_id": "C4022803", "aliases": [], "types": ["T033"], "canonical_name": "Increased inflammatory response", "definition": "A abnormal increase in the inflammatory response to injury or infection. [MONARCH:mhaendel]"} {"concept_id": "C4022804", "aliases": ["Decreased inflammatory response"], "types": ["T046"], "canonical_name": "Decreased inflammatory response", "definition": "An abnormal reduction in the inflammatory response to injury or infection. [MONARCH:mhaendel]"} {"concept_id": "C4022805", "aliases": ["Abnormal inflammatory response"], "types": ["T046"], "canonical_name": "Abnormal inflammatory response", "definition": "Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. [MONARCH:mhaendel]"} {"concept_id": "C4022806", "aliases": [], "types": ["T033"], "canonical_name": "Increased caudate lactate level", "definition": "An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging. [HPO:probinson, PMID:23810640]"} {"concept_id": "C4022807", "aliases": [], "types": ["T033"], "canonical_name": "Foveal hypopigmentation", "definition": "Decreased amount of pigmentation in the fovea centralis. [HPO:probinson]"} {"concept_id": "C4022808", "aliases": [], "types": ["T019"], "canonical_name": "Cerebellar agenesis", "definition": "Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles. [HPO:probinson, PMID:20305277, PMID:26331051]"} {"concept_id": "C4022809", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of intracranial pressure", "definition": "A deviation from the norm of the intracranial pressure. [HPO:probinson]"} {"concept_id": "C4022810", "aliases": ["Abnormal shape of nervous system", "Abnormal nervous system morphology", "Abnormality of nervous system morphology"], "types": ["T190"], "canonical_name": "Abnormal nervous system morphology", "definition": "A structural anomaly of the nervous system. [HPO:probinson]"} {"concept_id": "C4022811", "aliases": ["Abnormality of nervous system physiology"], "types": ["T046"], "canonical_name": "Abnormal nervous system physiology", "definition": "A functional anomaly of the nervous system. [HPO:probinson]"} {"concept_id": "C4022812", "aliases": [], "types": ["T033"], "canonical_name": "Iris hypoperfusion", "definition": "Reduction in the amount of blood flow to the iris. [HPO:probinson]"} {"concept_id": "C4022813", "aliases": [], "types": ["T033"], "canonical_name": "Iris pigment dispersion", "definition": "Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor. [HPO:probinson]"} {"concept_id": "C4022814", "aliases": ["Abnormality of the trabecular meshwork"], "types": ["T190"], "canonical_name": "Abnormal trabecular meshwork morphology", "definition": "An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm. [HPO:probinson]"} {"concept_id": "C4022815", "aliases": [], "types": ["T046"], "canonical_name": "Pseudoexfoliation", "definition": "Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. [HPO:probinson, PMID:23157966]"} {"concept_id": "C4022816", "aliases": [], "types": ["T190"], "canonical_name": "Cloacal abnormality", "definition": "A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate. [HPO:probinson]"} {"concept_id": "C4022817", "aliases": ["Multiple pouches in bladder wall"], "types": ["T190"], "canonical_name": "Multiple bladder diverticula", "definition": "Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder. [Eurenomics:fschaefer]"} {"concept_id": "C4022819", "aliases": ["White blood cell casts"], "types": ["T034"], "canonical_name": "Leukocyte cylindruria", "definition": "Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. [Eurenomics:fschaefer]"} {"concept_id": "C4022820", "aliases": ["Increased urinary sulphate"], "types": ["T033"], "canonical_name": "Increased urinary sulfate", "definition": "Elevated concentration of SO4(2-), i.e., sulfate, in the urine. [HPO:probinson]"} {"concept_id": "C4022821", "aliases": ["Abnormal urinary sulphate concentration"], "types": ["T033"], "canonical_name": "Abnormal urinary sulfate concentration", "definition": "Abnormal concentration of sulfate in the urine. [HPO:probinson]"} {"concept_id": "C4022823", "aliases": ["Abnormal urine magnesium concentration"], "types": ["T033"], "canonical_name": "Abnormal urine magnesium concentration", "definition": "An abnormal concentration of magnesium the urine. [Eurenomics:ewuehl]"} {"concept_id": "C4022824", "aliases": ["Low urine sodium levels"], "types": ["T033"], "canonical_name": "Hyponatriuria", "definition": "An abnormally decreased sodium concentration in the urine. [Eurenomics:ewuehl]"} {"concept_id": "C4022825", "aliases": ["Abnormal urine Na concentration", "Abnormal urine Na+ levels"], "types": ["T033"], "canonical_name": "Abnormal urine sodium concentration", "definition": "An abnormal concentration of sodium in the urine. [Eurenomics:fschaefer]"} {"concept_id": "C4022826", "aliases": ["Renal Cl- wasting", "Kidney chloride wasting", "Renal Cl wasting"], "types": ["T033"], "canonical_name": "Renal chloride wasting", "definition": "High urine chloride in the presence of hypochloridemia. [Eurenomics:ewuehl]"} {"concept_id": "C4022827", "aliases": ["Abnormal urine Cl- concentration", "Abnormal urine Cl concentration"], "types": ["T033"], "canonical_name": "Abnormal urine chloride concentration", "definition": "An abnormal concentration of chloride in the urine. [Eurenomics:fschaefer]"} {"concept_id": "C4022828", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urine phosphate concentration", "definition": "An abnormal phosphate concentration in the urine. [Eurenomics:ewuehl]"} {"concept_id": "C4022829", "aliases": ["Abnormal urine K concentration"], "types": ["T033"], "canonical_name": "Abnormal urine potassium concentration", "definition": "An abnormal concentration of potassium(1+) in the urine. [Eurenomics:fschaefer]"} {"concept_id": "C4022830", "aliases": ["Severly high blood protein levels"], "types": ["T033"], "canonical_name": "Heavy proteinuria", "definition": "Severely increased levels of protein in the urine (1000-3000 mg per day in adults). [Eurenomics:ewuehl]"} {"concept_id": "C4022831", "aliases": [], "types": ["T033"], "canonical_name": "Moderate proteinuria", "definition": "Moderately increased levels of protein in the urine (500-1000 mg per day in adults). [Eurenomics:fschaefer]"} {"concept_id": "C4022832", "aliases": [], "types": ["T033"], "canonical_name": "Mild proteinuria", "definition": "Mildly increased levels of protein in the urine (150-500 mg per day in adults). [Eurenomics:eweuehl]"} {"concept_id": "C4022833", "aliases": ["Urinary electrolyte imbalance"], "types": ["T033"], "canonical_name": "Abnormal urinary electrolyte concentration", "definition": "An abnormality in the concentration of electrolytes in the urine. [PMID:25215103]"} {"concept_id": "C4022834", "aliases": [], "types": ["T047"], "canonical_name": "Multidrug-resistant nephrotic syndrome", "definition": "A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. [Eurenomics:ewuehl]"} {"concept_id": "C4022835", "aliases": ["Bilateral kidney degeneration"], "types": ["T047"], "canonical_name": "Bilateral renal atrophy", "definition": "A two-sided form of atrophy of the kidney. [HPO:probinson]"} {"concept_id": "C4022836", "aliases": [], "types": ["T047"], "canonical_name": "Solitary renal cyst", "definition": "A single cyst located in the kidney."} {"concept_id": "C4022837", "aliases": [], "types": ["T047"], "canonical_name": "C3 nephropathy"} {"concept_id": "C4022838", "aliases": ["Abnormality of the nephron"], "types": ["T190"], "canonical_name": "Abnormal nephron morphology", "definition": "A structural anomaly of the nephron. [Eurenomics:fschaefer]"} {"concept_id": "C4022839", "aliases": [], "types": ["T047"], "canonical_name": "Global proximal tubulopathy", "definition": "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. [HPO:probinson]"} {"concept_id": "C4022840", "aliases": [], "types": ["T046"], "canonical_name": "Premature epimetaphyseal fusion in ulna", "definition": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson]"} {"concept_id": "C4022841", "aliases": [], "types": ["T190"], "canonical_name": "Premature epimetaphyseal fusion in radius", "definition": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson]"} {"concept_id": "C4022842", "aliases": [], "types": ["T046"], "canonical_name": "Premature epimetaphyseal fusion in tibia", "definition": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson]"} {"concept_id": "C4022843", "aliases": [], "types": ["T046"], "canonical_name": "Premature epimetaphyseal fusion in foot", "definition": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson]"} {"concept_id": "C4022844", "aliases": [], "types": ["T046"], "canonical_name": "Premature epimetaphyseal fusion in hand", "definition": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson]"} {"concept_id": "C4022845", "aliases": [], "types": ["T033"], "canonical_name": "Decreased T3/T4 ratio", "definition": "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal. [HPO:probinson]"} {"concept_id": "C4022846", "aliases": [], "types": ["T033"], "canonical_name": "Increased T3/T4 ratio", "definition": "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal. [HPO:probinson]"} {"concept_id": "C4022847", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal T3/T4 ratio", "definition": "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal. [HPO:probinson, PMID:16982586]"} {"concept_id": "C4022848", "aliases": [], "types": ["T033"], "canonical_name": "EEG with centrotemporal focal spike waves", "definition": "EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. [HPO:probinson]"} {"concept_id": "C4022849", "aliases": [], "types": ["T033"], "canonical_name": "Absent thumbnail", "definition": "Absence of thumb nail. [HPO:probinson]"} {"concept_id": "C4022850", "aliases": ["Small thumbnail", "Underdeveloped thumbnail"], "types": ["T190"], "canonical_name": "Hypoplastic thumbnail", "definition": "A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail. [HPO:probinson]"} {"concept_id": "C4022851", "aliases": [], "types": ["T033"], "definition": "Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs. [HPO:probinson]", "canonical_name": "Increased neutrophil nuclear projections"} {"concept_id": "C4022852", "aliases": [], "types": ["T033"], "canonical_name": "Absent neutrophil specific granules", "definition": "Lack of specific granules in neutrophils. [HPO:probinson, PMID:6155073]"} {"concept_id": "C4022853", "aliases": [], "types": ["T047"], "canonical_name": "Colonic varices", "definition": "The presence of varices (enlarged and convoluted blood vessels) in the colon. [HPO:probinson, PMID:16688816]"} {"concept_id": "C4022854", "aliases": [], "types": ["T191"], "canonical_name": "Conjunctival lipoma", "definition": "A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva. [HPO:probinson]"} {"concept_id": "C4022855", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal involuntary eye movements", "definition": "Anomalous movements of the eyes that occur without the subject wanting them to happen. [HPO:probinson]"} {"concept_id": "C4022856", "aliases": [], "types": ["T049"], "canonical_name": "Skewed maternal X inactivation", "definition": "A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells. [HPO:probinson, PMID:18097476]"} {"concept_id": "C4022857", "aliases": [], "types": ["T033"], "canonical_name": "Reduced aldolase level", "definition": "An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4022858", "aliases": [], "types": ["T033"], "canonical_name": "Elevated aldolase level", "definition": "An increased concentration of fructose 1,6-bisphosphate aldolase in the serum. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4022859", "aliases": ["Armpit cyst"], "types": ["T190"], "canonical_name": "Axillary epidermoid cyst", "definition": "An epidermoid cyst in the armpit. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4022860", "aliases": [], "types": ["T033"], "canonical_name": "Maternal anticardiolipin antibody positive", "definition": "The presence of circulating autoantibodies to anticardiolipin in the mother. [ORCID:0000-0001-5208-3432, PMID:1495720, PMID:9722063]"} {"concept_id": "C4022861", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal number of dense granules", "definition": "A deviation from the normal count of dense granules per thrombocyte. [DDD:wouwehand]"} {"concept_id": "C4022862", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal number of alpha granules", "definition": "A deviation from the normal count of alpha granules per thrombocyte. [DDD:wouwehand]"} {"concept_id": "C4022863", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal alpha granule content", "definition": "A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. [HPO:probinson]"} {"concept_id": "C4022864", "aliases": ["Gray platelets", "Grey platelets"], "types": ["T033"], "canonical_name": "Absence of alpha granules", "definition": "A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. [HPO:probinson, PMID:3877532]"} {"concept_id": "C4022865", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal alpha granule distribution", "definition": "An anomalous location and arrangement of platelet alpha granules. [DDD:wouwehand]"} {"concept_id": "C4022866", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal platelet shape", "definition": "A deviation from the normal discoid platelet shape. [DD:WHO]"} {"concept_id": "C4022867", "aliases": [], "types": ["T047"], "canonical_name": "Spider hemangioma", "definition": "A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released. [HPO:probinson, PMID:22356347]"} {"concept_id": "C4022868", "aliases": ["Abnormality of the cerebral arterial circle"], "types": ["T190"], "canonical_name": "Abnormal circle of Willis morphology", "definition": "An anomaly of the circle of Willis, also known as the cerebral arterial circle. [HPO:probinson]"} {"concept_id": "C4022869", "aliases": [], "types": ["T033"], "canonical_name": "Reduced catalase level", "definition": "An abnormally decreased amount of catalase level. [HPO:probinson]"} {"concept_id": "C4022870", "aliases": [], "types": ["T033"], "canonical_name": "Diffuse optic disc pallor", "definition": "A pale yellow discoloration of the entire optic disc. [HPO:probinson, PMID:19668477]"} {"concept_id": "C4022871", "aliases": ["Extra-axial CSF accumulation"], "types": ["T033"], "canonical_name": "Extra-axial cerebrospinal fluid accumulation", "definition": "An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space. [HPO:probinson, PMID:22327705, PMID:23838695]"} {"concept_id": "C4022872", "aliases": [], "types": ["T033"], "canonical_name": "Reduced thyroxin-binding globulin", "definition": "An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. [HPO:probinson]"} {"concept_id": "C4022873", "aliases": [], "types": ["T190"], "canonical_name": "Small pituitary gland", "definition": "An abnormally decreased size of the pituitary gland. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4022874", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal size of pituitary gland", "definition": "A deviation from the normal size of the pituitary gland. [HPO:probinson]"} {"concept_id": "C4022875", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the internal capsule", "definition": "An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus. [HPO:probinson]"} {"concept_id": "C4022876", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the brainstem white matter", "definition": "An anomaly of the white matter of brainstem. [HPO:probinson]"} {"concept_id": "C4022877", "aliases": ["Papillomatous papule"], "types": ["T190"], "canonical_name": "Verrucous papule", "definition": "A wartlike (with multiple small elevated projections) papule. [HPO:probinson]"} {"concept_id": "C4022878", "aliases": [], "types": ["T047"], "canonical_name": "Descending aortic dissection", "definition": "A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. [HPO:probinson]"} {"concept_id": "C4022879", "aliases": [], "types": ["T033"], "canonical_name": "Reduced maximal expiratory pressure", "definition": "A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4022880", "aliases": [], "types": ["T033"], "canonical_name": "Reduced maximal inspiratory pressure", "definition": "A decrease in the maximum amount of negative pressure a person can generate during an inhalation. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4022881", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal dense tubular system", "definition": "An anomaly of the intracellular membrane complexes known as the dense tubular system. [DDD:wouwehand, PMID:1322202]"} {"concept_id": "C4022882", "aliases": [], "types": ["T190"], "canonical_name": "Suprasellar arachnoid cyst", "definition": "An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards. [HPO:probinson, PMID:21586175]"} {"concept_id": "C4022883", "aliases": [], "types": ["T190"], "canonical_name": "Intraventricular arachnoid cyst", "definition": "An arachnoid cyst located within the ventricular system. [HPO:probinson, PMID:8951893]"} {"concept_id": "C4022884", "aliases": [], "types": ["T047"], "canonical_name": "Cerebellopontine angle arachnoid cyst", "definition": "An arachnoid cyst located at the margin of the cerebellum and pons. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4022885", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal dense granules", "definition": "Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin. [DDD:wouwehand]"} {"concept_id": "C4022886", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal alpha granules", "definition": "Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury. [DDD:wouwehand, PMID:8467233]"} {"concept_id": "C4022887", "aliases": [], "types": ["T019"], "canonical_name": "Frontal venous angioma", "definition": "A venous angioma of the frontal lobe of the brain. [HPO:probinson]"} {"concept_id": "C4022888", "aliases": ["Abnormality of cerebral veins"], "types": ["T190"], "canonical_name": "Abnormal cerebral vein morphology", "definition": "An anomaly of cerebral veins. [HPO:probinson]"} {"concept_id": "C4022889", "aliases": ["Shakey voice", "Vocal tremor"], "types": ["T033"], "canonical_name": "Vocal tremor", "definition": "A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability. [HPO:probinson, PMID:22505778]"} {"concept_id": "C4022890", "aliases": ["Low pneumococcal antibody titer", "Specific pneumococcal antibody deficiency"], "types": ["T033"], "canonical_name": "Decreased specific pneumococcal antibody level", "definition": "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci. [HPO:probinson]"} {"concept_id": "C4022891", "aliases": ["Increased liver iron level", "Increased iron concentration in liver"], "types": ["T033"], "canonical_name": "Elevated hepatic iron concentration", "definition": "An increased level of iron in liver tissues. [HPO:probinson, PMID:10922422, PMID:14668426]"} {"concept_id": "C4022892", "aliases": [], "types": ["T033"], "canonical_name": "Elevated transferrin saturation", "definition": "An above normal level of saturation of serum transferrin with iron. [HPO:probinson]"} {"concept_id": "C4022893", "aliases": [], "types": ["T190"], "canonical_name": "Dysmorphic inferior cerebellar vermis", "definition": "A structural anomaly of the inferior portion of the vermis of cerebellum. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4022894", "aliases": [], "types": ["T046"], "canonical_name": "Medial calcification of small arteries", "definition": "Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries. [HPO:probinson]"} {"concept_id": "C4022895", "aliases": [], "types": ["T046"], "canonical_name": "Medial calcification of medium-sized arteries", "definition": "Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries. [HPO:probinson]"} {"concept_id": "C4022896", "aliases": [], "types": ["T046"], "canonical_name": "Medial arterial calcification", "definition": "Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries. [HPO:probinson]"} {"concept_id": "C4022898", "aliases": [], "types": ["T033"], "canonical_name": "Unilateral wrist flexion contracture", "definition": "A chronic loss of wrist joint motion on one side only. [HPO:probinson]"} {"concept_id": "C4022899", "aliases": [], "types": ["T190"], "canonical_name": "Bilateral wrist flexion contracture", "definition": "A chronic loss of wrist joint motion on the right and left sides. [HPO:probinson]"} {"concept_id": "C4022900", "aliases": [], "types": ["T047"], "canonical_name": "Sacroiliac joint synovitis", "definition": "Inflammation of the synovial membrane of the sacroiliac joint. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4022901", "aliases": ["Low CSF 5-methyltetrahydrofolate", "Reduced CSF 5-methyltetrahydrofolate concentration"], "types": ["T033"], "canonical_name": "Decreased CSF 5-methyltetrahydrofolate concentration", "definition": "A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite. [HPO:probinson]"} {"concept_id": "C4022902", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal biliary tract physiology", "definition": "A functional abnormality of the biliary tree. [HPO:probinson]"} {"concept_id": "C4022903", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal gallbladder physiology", "definition": "A functional anomaly of the gallbladder. [HPO:probinson]"} {"concept_id": "C4022904", "aliases": ["Abnormal gallbladder structure", "Abnormal shape of gallbladder"], "types": ["T190"], "canonical_name": "Abnormal gallbladder morphology", "definition": "A structural anomaly of the gallbladder. [HPO:probinson]"} {"concept_id": "C4022905", "aliases": [], "types": ["T033"], "canonical_name": "Ventral shortening of foreskin", "definition": "Reduction in length of the ventral (lower) skin of prepuce of penis. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4022906", "aliases": ["Delayed social development"], "types": ["T033"], "canonical_name": "Delayed social development", "definition": "A failure to meet one or more age-related milestones of social behavior. [HPO:probinson]"} {"concept_id": "C4022907", "aliases": [], "types": ["T047"], "canonical_name": "Episodic fatigue", "definition": "Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation. [HPO:probinson]"} {"concept_id": "C4022908", "aliases": [], "types": ["T033"], "canonical_name": "Cerebral white matter hypoplasia", "definition": "Underdevelopment of the cerebral white matter. [HPO:probinson]"} {"concept_id": "C4022909", "aliases": [], "types": ["T033"], "canonical_name": "Excessive femoral anteversion", "definition": "An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward. [HPO:probinson, ORCID:0000-0001-5208-3432]"} {"concept_id": "C4022910", "aliases": [], "types": ["T046"], "canonical_name": "Hyperoxemia", "definition": "An abnormally high level of blood oxygen. [HPO:probinson]"} {"concept_id": "C4022911", "aliases": [], "types": ["T033"], "canonical_name": "Duodenal atrophy", "definition": "Wasting or decrease in size of all or part of the duodenum. [HPO:probinson]"} {"concept_id": "C4022912", "aliases": ["Notched front deciduous tooth", "Syphilitic primary incisor", "Notched front primary tooth", "Notched front baby tooth"], "types": ["T190"], "canonical_name": "Notched primary central incisor", "definition": "The presence of a V-shaped indentation (notch) in the primary central incisor. [HPO:probinson]"} {"concept_id": "C4022913", "aliases": ["Abnormal urine citric acid concentration", "Abnormal urine citrate concentration"], "types": ["T033"], "canonical_name": "Abnormal urine citrate concentration", "definition": "A deviation from normal of the concentration of citrate(3-) in the urine. [HPO:probinson]"} {"concept_id": "C4022914", "aliases": ["Decreased urinary 2-oxoglutarate"], "types": ["T033"], "canonical_name": "Decreased urine alpha-ketoglutarate concentration", "definition": "A lower than normal concentration of 2-oxoglutaric acid in the urine. [HPO:probinson]"} {"concept_id": "C4022915", "aliases": ["Elevated urinary 2-oxoglutarate", "Increased urine alpha-ketoglutarate concentration"], "types": ["T033"], "canonical_name": "Increased urine alpha-ketoglutarate concentration", "definition": "A greater than normal concentration of 2-oxoglutaric acid in the urine. [HPO:probinson]"} {"concept_id": "C4022916", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal aldolase level", "definition": "An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. [HPO:probinson]"} {"concept_id": "C4022917", "aliases": [], "types": ["T046"], "canonical_name": "Iodine contrast allergy", "definition": "Allergy to iodine contrast media used in radiological studies. [HPO:probinson]"} {"concept_id": "C4022918", "aliases": ["Mandibular hyporeflexia"], "types": ["T033"], "canonical_name": "Jaw hyporeflexia", "definition": "Reduced intensity of muscle tendon reflexes in jaw. [HPO:probinson]"} {"concept_id": "C4022919", "aliases": [], "types": ["T033"], "canonical_name": "Appendicular hypotonia", "definition": "Muscular hypotonia of one or more limbs. [HPO:probinson]"} {"concept_id": "C4022920", "aliases": [], "types": ["T033"], "canonical_name": "Delayed self-feeding during toddler years", "definition": "A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age). [HPO:probinson]"} {"concept_id": "C4022921", "aliases": [], "types": ["T033"], "canonical_name": "Reduced carnitine O-palmitoyltransferase level", "definition": "Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. [HPO:probinson]"} {"concept_id": "C4022922", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal enzyme/coenzyme activity", "definition": "An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. [HPO:probinson, MP:0005584]"} {"concept_id": "C4022924", "aliases": ["Abnormal eye physiology"], "types": ["T046"], "canonical_name": "Abnormal eye physiology", "definition": "A functional anomaly of the eye. [HPO:probinson]"} {"concept_id": "C4022925", "aliases": ["Abnormal eye structure", "Abnormality of the globe", "Abnormally shaped eye"], "types": ["T190"], "canonical_name": "Abnormal eye morphology", "definition": "A structural anomaly of the globe of the eye, or bulbus oculi. [HPO:probinson]"} {"concept_id": "C4022926", "aliases": ["Deformity of the malar bones", "Abnormality of malar bones", "Malformation of the malar bones", "Anomaly of the malar bones", "Malar anomaly"], "types": ["T190"], "canonical_name": "Abnormal malar bone morphology", "definition": "An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla. [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436]"} {"concept_id": "C4022927", "aliases": ["Accessory fontanelle", "Supernumary fontanelle", "Extra fontanelle"], "types": ["T190"], "canonical_name": "Extra fontanelles", "definition": "Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull. [HPO:probinson]"} {"concept_id": "C4022928", "aliases": [], "types": ["T033"], "canonical_name": "Decreased sialylation of O-linked protein glycosylation", "definition": "An reduced addition of sialic acids to O-linked glycans. [HPO:probinson]"} {"concept_id": "C4022929", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal sialylation of O-linked protein glycosylation", "definition": "An anomaly of the addition of sialic acids to O-linked glycans. [HPO:probinson]"} {"concept_id": "C4022930", "aliases": [], "types": ["T033"], "canonical_name": "Increased fucosylation of O-linked protein glycosylation", "definition": "Increased addition of fucose sugar units to O-linked glycans. [HPO:probinson]"} {"concept_id": "C4022931", "aliases": [], "types": ["T033"], "canonical_name": "Decreased fucosylation of O-linked protein glycosylation", "definition": "A reduction of the addition of fucose sugar units to O-linked glycans. [HPO:probinson]"} {"concept_id": "C4022932", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal fucosylation of O-linked protein glycosylation", "definition": "An anomaly of the addition of fucose sugar units to O-linked glycans. [HPO:probinson]"} {"concept_id": "C4022933", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal protein O-linked glycosylation", "definition": "An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue. [HPO:probinson]"} {"concept_id": "C4022934", "aliases": [], "types": ["T033"], "canonical_name": "Increased mannosylation of N-linked protein glycosylation", "definition": "Increased addition of mannose to N-linked glycans. [HPO:probinson]"} {"concept_id": "C4022935", "aliases": [], "types": ["T033"], "canonical_name": "Decreased mannosylation of N-linked protein glycosylation", "definition": "Reduced addition of mannose to N-linked glycans. [HPO:probinson]"} {"concept_id": "C4022936", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal mannosylation of N-linked protein glycosylation", "definition": "An anomaly of the addition of mannose to N-linked glycans. [HPO:probinson]"} {"concept_id": "C4022937", "aliases": [], "types": ["T033"], "canonical_name": "Increased fucosylation of N-linked protein glycosylation", "definition": "Increased addition of fucose sugar units to N-linked glycans. [HPO:probinson]"} {"concept_id": "C4022938", "aliases": [], "types": ["T033"], "canonical_name": "Decreased fucosylation of N-linked protein glycosylation", "definition": "Decreased addition of fucose sugar units to N-linked glycans. [HPO:probinson]"} {"concept_id": "C4022939", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal fucosylation of protein N-linked glycosylation", "definition": "An anomaly of the addition of fucose sugar units to N-linked glycans. [HPO:probinson]"} {"concept_id": "C4022940", "aliases": [], "types": ["T033"], "canonical_name": "Increased sialylation of N-linked protein glycosylation", "definition": "Increased addition of sialic acids to N-linked glycans. [HPO:probinson]"} {"concept_id": "C4022941", "aliases": [], "types": ["T033"], "canonical_name": "Decreased sialylation of N-linked protein glycosylation", "definition": "Decreased addition of sialic acids to N-linked glycans. [HPO:probinson]"} {"concept_id": "C4022942", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal sialylation of N-linked protein glycosylation", "definition": "An anomaly of the addition of sialic acids to N-linked glycans. [HPO:probinson]"} {"concept_id": "C4022943", "aliases": [], "types": ["T033"], "canonical_name": "Decreased galactosylation of N-linked protein glycosylation", "definition": "A reduction in the amount of galactose residues of N-glycans. [HPO:probinson]"} {"concept_id": "C4022944", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal protein N-linked glycosylation", "definition": "An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein. [HPO:probinson, PMID:22516080]"} {"concept_id": "C4022945", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal protein glycosylation", "definition": "An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. [HPO:probinson]"} {"concept_id": "C4022946", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal glycosylation", "definition": "An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. [HPO:probinson]"} {"concept_id": "C4022947", "aliases": [], "types": ["T033"], "canonical_name": "Decreased resting energy expenditure", "definition": "A reduction in the number of calories used per unit time. [HPO:probinson]"} {"concept_id": "C4022948", "aliases": [], "types": ["T033"], "canonical_name": "Increased resting energy expenditure", "definition": "An increase in the number of calories used per unit time. [HPO:probinson]"} {"concept_id": "C4022949", "aliases": ["Abnormal energy expenditure"], "types": ["T033"], "canonical_name": "Abnormal energy expenditure", "definition": "Any anomaly in the utilization of energy (calories). [HPO:probinson]"} {"concept_id": "C4022950", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal homeostasis", "definition": "An anomaly in the processes involved in the maintenance of an internal equilibrium. [HPO:probinson]"} {"concept_id": "C4022951", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of folate metabolism", "definition": "An abnormality of the metabolism of folic acid, which is also known as vitamin B9. [HPO:probinson]"} {"concept_id": "C4022953", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal autonomic nervous system morphology", "definition": "A structural abnormality of the autonomic nervous system. [HPO:probinson]"} {"concept_id": "C4022954", "aliases": ["Abnormal coeliac artery morphology", "Abnormality of the coeliac artery", "Abnormality of the celiac artery"], "types": ["T190"], "canonical_name": "Abnormal celiac artery morphology", "definition": "An anomaly of the celiac artery. [HPO:probinson]"} {"concept_id": "C4022955", "aliases": [], "types": ["T033"], "canonical_name": "Absent pigmentation of the limbs", "definition": "Lack of skin pigmentation (coloring) of the arms and legs. [HPO:probinson]"} {"concept_id": "C4022956", "aliases": [], "types": ["T033"], "canonical_name": "Absent pigmentation of the abdomen", "definition": "Lack of skin pigmentation (coloring) of the abdomen. [HPO:probinson]"} {"concept_id": "C4022957", "aliases": ["Abnormal maturation of rib bones"], "types": ["T033"], "canonical_name": "Abnormal rib ossification", "definition": "An anomaly of the process of rib bone formation. [HPO:probinson]"} {"concept_id": "C4022958", "aliases": [], "types": ["T019"], "canonical_name": "Coarctation of the descending aortic arch", "definition": "Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta. [HPO:probinson]"} {"concept_id": "C4022959", "aliases": [], "types": ["T033"], "canonical_name": "Ureteral agenesis", "definition": "Failure of the ureter to undergo development. [HPO:probinson]"} {"concept_id": "C4022960", "aliases": ["Long middle bone of finger"], "types": ["T190"], "canonical_name": "Long middle phalanx of finger", "definition": "Increased length of the middle phalanx of finger. [HPO:probinson]"} {"concept_id": "C4022961", "aliases": ["Slender innermost bone of finger"], "types": ["T190"], "canonical_name": "Slender proximal phalanx of finger", "definition": "Reduced diameter of the proximal phalanx of finger. [HPO:probinson]"} {"concept_id": "C4022962", "aliases": ["Slender outermost bone of finger"], "types": ["T033"], "canonical_name": "Slender distal phalanx of finger", "definition": "Reduced diameter of the distal phalanx of finger. [HPO:probinson]"} {"concept_id": "C4022963", "aliases": ["Slender middle bone of finger"], "types": ["T190"], "canonical_name": "Slender middle phalanx of finger", "definition": "Reduced diameter of the middle phalanx of finger. [HPO:probinson]"} {"concept_id": "C4022964", "aliases": ["Abnormality of the occipital bone"], "types": ["T190"], "canonical_name": "Abnormal occipital bone morphology", "definition": "Abnormality of the occipital bone of the skull. [HPO:probinson]"} {"concept_id": "C4022965", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal genital pigmentation", "definition": "An abnormal pigmentation pattern of the external genitalia. [HPO:probinson]"} {"concept_id": "C4022966", "aliases": ["Synechia of the gums", "Fusion of the gingiva", "Fusion of gums", "Partial fusion of the gums", "Gingival synechia", "Upper and lower gums fused together"], "types": ["T019"], "canonical_name": "Fusion of gums", "definition": "A congenital defect with an abnormal joining of the gums of the upper and lower jaw. [HPO:probinson, PMID:19858676]"} {"concept_id": "C4022967", "aliases": [], "types": ["T033"], "canonical_name": "Hypothalamic luteinizing hormone-releasing hormone deficiency", "definition": "Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus. [HPO:probinson]"} {"concept_id": "C4022968", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal hypothalamus physiology", "definition": "An abnormal functionality of the hypothalamus. [HPO:probinson]"} {"concept_id": "C4022969", "aliases": ["Small end part of innermost shinbone", "Small end part of innermost shankbone"], "types": ["T190"], "canonical_name": "Small proximal tibial epiphyses", "definition": "Reduced size of the proximal epiphysis of the tibia. [HPO:probinson]"} {"concept_id": "C4022970", "aliases": ["Small end part of outermost thighbone"], "types": ["T033"], "canonical_name": "Small distal femoral epiphysis", "definition": "Reduced size of the Distal epiphysis of femur. [HPO:probinson]"} {"concept_id": "C4022971", "aliases": ["Low blood serine levels"], "types": ["T033"], "canonical_name": "Hyposerinemia", "definition": "Reduced concentration of serine in the blood. [HPO:probinson]"} {"concept_id": "C4022973", "aliases": ["Low blood glycine levels"], "types": ["T033"], "canonical_name": "Hypoglycinemia", "definition": "An abnormally reduced concentration of glycine in the blood. [HPO:probinson]"} {"concept_id": "C4022975", "aliases": [], "types": ["T045"], "canonical_name": "Autosomal dominant inheritance with maternal imprinting", "definition": "A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing. [HPO:probinson]"} {"concept_id": "C4022976", "aliases": [], "types": ["T049"], "canonical_name": "Autosomal dominant inheritance with paternal imprinting", "definition": "A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing. [HPO:probinson, PMID:18678320]"} {"concept_id": "C4022977", "aliases": [], "types": ["T033"], "canonical_name": "Increased carotid artery intimal medial thickness", "definition": "An increase in the combined thickness of the intima and media of the carotid artery. [HPO:probinson, PMID:9878640]"} {"concept_id": "C4022978", "aliases": [], "types": ["T033"], "canonical_name": "Episodic upper airway obstruction", "definition": "Intermittent episodes of increased resistance to the passage of air in the upper airway. [HPO:probinson]"} {"concept_id": "C4022979", "aliases": [], "types": ["T033"], "canonical_name": "Decreased muscle glycogen content", "definition": "A decreased amount of glycogen in muscle tissue. [HPO:probinson]"} {"concept_id": "C4022980", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal muscle glycogen content", "definition": "Any anomaly in the amount of glycogen in muscle tissue. [HPO:probinson]"} {"concept_id": "C4022981", "aliases": [], "types": ["T033"], "canonical_name": "Absent respiratory ciliary axoneme radial spokes", "definition": "Absence of the radial spokes of the axoneme of the respiratory cilium. [HPO:probinson, PMID:19606528]"} {"concept_id": "C4022982", "aliases": [], "types": ["T033"], "canonical_name": "Absent central microtubular pair morphology of respiratory motile cilia", "definition": "Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. [HPO:probinson]"} {"concept_id": "C4022983", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ciliary motility", "definition": "Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions. [HPO:probinson, PMID:19606528, PMID:20301301]"} {"concept_id": "C4022984", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal respiratory motile cilium physiology", "definition": "Any functional anomaly of the respiratory motile cilia. [HPO:probinson, MP:0011055]"} {"concept_id": "C4022985", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal central microtubular pair morphology of respiratory motile cilia", "definition": "A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. [HPO:probinson, PMID:19200523]"} {"concept_id": "C4022986", "aliases": [], "types": ["T033"], "canonical_name": "Absent inner and outer dynein arms", "definition": "Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [HPO:probinson, PMID:19606528]"} {"concept_id": "C4022987", "aliases": ["Abnormal axonemal organisation of respiratory motile cilia"], "types": ["T190"], "canonical_name": "Abnormal axonemal organization of respiratory motile cilia", "definition": "Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms. [HPO:probinson, PMID:19606528]"} {"concept_id": "C4022988", "aliases": [], "types": ["T033"], "canonical_name": "Absent inner dynein arms", "definition": "Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [HPO:skoehler, PMID:19606528]"} {"concept_id": "C4022989", "aliases": [], "types": ["T033"], "canonical_name": "Absent outer dynein arms", "definition": "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [HPO:probinson, PMID:19606528]"} {"concept_id": "C4022990", "aliases": [], "types": ["T033"], "canonical_name": "Dynein arm defect of respiratory motile cilia", "definition": "An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. [HPO:probinson, PMID:19606528]"} {"concept_id": "C4022991", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal respiratory epithelium morphology", "definition": "Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi. [HPO:probinson, MP:0010942]"} {"concept_id": "C4022992", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal respiratory system morphology", "definition": "A structural anomaly of the respiratory system. [HPO:probinson]"} {"concept_id": "C4022993", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ST segment", "definition": "An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment. [HPO:probinson]"} {"concept_id": "C4022994", "aliases": [], "types": ["T033"], "canonical_name": "Specific anosmia", "definition": "Anosmia for one particular odor. [HPO:probinson]"} {"concept_id": "C4022995", "aliases": [], "types": ["T033"], "canonical_name": "Sex reversal", "definition": "Development of the reproductive system is inconsistent with the chromosomal sex. [HPO:probinson, MP:0005652]"} {"concept_id": "C4022996", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal sex determination", "definition": "Anomaly of primary or secondary sexual development or characteristics. [HPO:probinson, MP:0002210]"} {"concept_id": "C4022997", "aliases": ["Failure of development of some primary teeth", "Failure of development of some deciduous teeth", "Partial anodontia of deciduous teeth", "Partial anodontia of primary teeth"], "types": ["T033"], "canonical_name": "Oligodontia of primary teeth", "definition": "Reduced number of primary teeth. [HPO:probinson]"} {"concept_id": "C4022998", "aliases": [], "types": ["T033"], "canonical_name": "Arachnoid hemangiomatosis", "definition": "The presence of multiple hemangiomas in the arachnoid. [HPO:probinson]"} {"concept_id": "C4022999", "aliases": [], "types": ["T033"], "canonical_name": "Non-caseating epithelioid cell granulomatosis", "definition": "The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese). [HPO:probinson]"} {"concept_id": "C4023000", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary porphobilinogen", "definition": "Increased concentration of porphobilinogen in the urine. [HPO:probinson, PMID:11861450]"} {"concept_id": "C4023003", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent vulvovaginal candidiasis", "definition": "Vulvovaginal candidiasis occurring at least three times in one year."} {"concept_id": "C4023004", "aliases": [], "types": ["T033"], "canonical_name": "Increased serum bile acid concentration", "definition": "An increase in the concentration of bile acid in the blood. [HPO:probinson]"} {"concept_id": "C4023005", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of prothrombin", "definition": "An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. [HPO:probinson]"} {"concept_id": "C4023006", "aliases": [], "types": ["T047"], "canonical_name": "Juvenile colonic polyposis", "definition": "The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. [HPO:probinson, PMID:17768394, PMID:25022750]"} {"concept_id": "C4023007", "aliases": [], "types": ["T033"], "canonical_name": "Increased erythrocyte protoporphyrin concentration", "definition": "An increased concentration of protoporphyrins in erythrocytes. [HPO:probinson, PMID:18760763]"} {"concept_id": "C4023008", "aliases": [], "types": ["T190"], "canonical_name": "Entrapment neuropathy of the ulnar nerve at elbow", "definition": "An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand. [HPO:probinson]"} {"concept_id": "C4023009", "aliases": [], "types": ["T190"], "canonical_name": "Constrictive median neuropathy", "definition": "Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. [HPO:probinson]"} {"concept_id": "C4023010", "aliases": [], "types": ["T191"], "canonical_name": "Hyperplastic colonic polyposis", "definition": "Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation. [HPO:probinson]"} {"concept_id": "C4023011", "aliases": ["Abnormal craniofacial muscle tone"], "types": ["T047"], "canonical_name": "Craniofacial dystonia", "definition": "A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. [HPO:probinson]"} {"concept_id": "C4023012", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal natural killer cell physiology", "definition": "A functional anomaly of the natural killer cell. [HPO:probinson]"} {"concept_id": "C4023013", "aliases": [], "types": ["T048"], "canonical_name": "Stereotypical body rocking", "definition": "Habitual repetitive movement of the body. [HPO:probinson]"} {"concept_id": "C4023014", "aliases": [], "types": ["T048"], "canonical_name": "Stereotypical hand wringing", "definition": "Habitual clasping and squeezing of the hands. [HPO:probinson]"} {"concept_id": "C4023015", "aliases": [], "types": ["T047"], "canonical_name": "Common carotid artery dissection", "definition": "A separation (dissection) of the layers of the common carotid artery wall. [HPO:probinson]"} {"concept_id": "C4023016", "aliases": [], "types": ["T047"], "definition": "A separation (dissection) of the layers of the external carotid artery wall. [HPO:probinson]", "canonical_name": "External carotid artery dissection"} {"concept_id": "C4023017", "aliases": [], "types": ["T190"], "canonical_name": "Intracranial internal carotid artery dissection", "definition": "A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall. [HPO:probinson]"} {"concept_id": "C4023018", "aliases": [], "types": ["T047"], "canonical_name": "Subcortical cerebral atrophy", "definition": "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. [HPO:probinson, PMID:20813998]"} {"concept_id": "C4023019", "aliases": [], "types": ["T047"], "canonical_name": "Single lineage myelodysplasia", "definition": "Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic). [DDD:akelly]"} {"concept_id": "C4023020", "aliases": [], "types": ["T047"], "canonical_name": "Bilineage myelodysplasia", "definition": "Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic. [DDD:akelly]"} {"concept_id": "C4023021", "aliases": [], "types": ["T047"], "canonical_name": "Multiple lineage myelodysplasia", "definition": "Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic. [DDD:akelly]"} {"concept_id": "C4023022", "aliases": [], "types": ["T033"], "canonical_name": "Reduced quantity of Von Willebrand factor", "definition": "Decreased quantity of von Willebrand factor. [DDD:akelly]"} {"concept_id": "C4023023", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of von Willebrand factor", "definition": "Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. [DDD:akelly]"} {"concept_id": "C4023024", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of multiple cell lineages in the bone marrow"} {"concept_id": "C4023026", "aliases": ["Abnormality of cells of the megakaryocyte lineage"], "types": ["T033"], "canonical_name": "Abnormal megakaryocyte morphology", "definition": "Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells. []"} {"concept_id": "C4023028", "aliases": [], "types": ["T047"], "canonical_name": "Granulocytic hyperplasia"} {"concept_id": "C4023029", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal number of granulocyte precursors"} {"concept_id": "C4023030", "aliases": [], "types": ["T047"], "canonical_name": "Dysplastic granulopoesis"} {"concept_id": "C4023031", "aliases": ["Abnormality of cells of the granulocytic lineage"], "types": ["T033"], "canonical_name": "Abnormal granulocytopoietic cell morphology", "definition": "An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell. [DDD:akelly]"} {"concept_id": "C4023032", "aliases": [], "types": ["T047"], "canonical_name": "Dysplastic erythropoesis"} {"concept_id": "C4023033", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal number of erythroid precursors", "definition": "A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. [DDD:akelly]"} {"concept_id": "C4023034", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of bone marrow stromal cells"} {"concept_id": "C4023035", "aliases": [], "types": ["T047"], "canonical_name": "Basal ganglia necrosis", "definition": "Death of cells in the basal ganglia. [HPO:probinson]"} {"concept_id": "C4023036", "aliases": ["Abnormal albumin level"], "types": ["T033"], "canonical_name": "Abnormal circulating albumin concentration", "definition": "Deviation from normal concentration of albumin in the blood. [HPO:probinson]"} {"concept_id": "C4023037", "aliases": ["Abnormality of circulating corticosterone level"], "types": ["T033"], "canonical_name": "Abnormal circulating corticosterone level", "definition": "An abnormality of the concentration of corticosterone in the blood. [HPO:probinson]"} {"concept_id": "C4023038", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of circulating glucocorticoid level", "definition": "An abnormality of the concentration of a glucocorticoid in the blood. [HPO:probinson]"} {"concept_id": "C4023039", "aliases": [], "types": ["T190"], "canonical_name": "Rhizomelic leg shortening", "definition": "Disproportionate shortening of the proximal segment of the leg (i.e. the femur). [HPO:probinson]"} {"concept_id": "C4023040", "aliases": [], "types": ["T047"], "canonical_name": "Occipital cortical atrophy", "definition": "Atrophy of the occipital cortex. [HPO:probinson]"} {"concept_id": "C4023041", "aliases": [], "types": ["T190"], "canonical_name": "Parietal cortical atrophy", "definition": "Atrophy of the parietal cortex. [HPO:probinson]"} {"concept_id": "C4023042", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the mitochondrion", "definition": "An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. [HPO:probinson]"} {"concept_id": "C4023043", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal mitochondrial number", "definition": "A deviation from the normal number of mitochondria per cell. [HPO:probinson]"} {"concept_id": "C4023044", "aliases": [], "types": ["T019"], "canonical_name": "Intracranial dermoid cyst", "definition": "A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands. [HPO:probinson, PMID:16714456]"} {"concept_id": "C4023045", "aliases": [], "types": ["T190"], "canonical_name": "Intracranial epidermoid cyst", "definition": "A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development. [HPO:probinson, PMID:16714456]"} {"concept_id": "C4023046", "aliases": ["Abnormal pancreas size"], "types": ["T190"], "canonical_name": "Abnormal pancreas size", "definition": "A deviation from the normal size of the pancreas. [HPO:probinson]"} {"concept_id": "C4023047", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of endocrine pancreas physiology", "definition": "A function abnormality of the endocrine pancreas. [HPO:probinson]"} {"concept_id": "C4023048", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of pancreas physiology", "definition": "An anomaly of the function of the pancreas. [HPO:probinson]"} {"concept_id": "C4023049", "aliases": ["Abnormality of pancreas morphology", "Abnormally shaped pancreas"], "types": ["T190"], "canonical_name": "Abnormal pancreas morphology"} {"concept_id": "C4023050", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal mitochondrial shape", "definition": "An anomaly in the surface contour of mitochondria. [HPO:probinson, MP:0011633]"} {"concept_id": "C4023051", "aliases": ["Abnormality of skeletal muscle fibre size"], "types": ["T190"], "canonical_name": "Abnormality of skeletal muscle fiber size", "definition": "Any abnormality of the size of the skeletal muscle cell. [HPO:probinson]"} {"concept_id": "C4023052", "aliases": [], "types": ["T034"], "canonical_name": "Ubiquitin-positive cerebral inclusion bodies", "definition": "Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain. [HPO:probinson]"} {"concept_id": "C4023053", "aliases": [], "types": ["T190"], "canonical_name": "Cerebellar Purkinje layer atrophy", "definition": "Atrophy of the cerebellum affecting primarily the Purkinje cell layer. [HPO:probinson]"} {"concept_id": "C4023054", "aliases": [], "types": ["T047"], "canonical_name": "Cerebellar granular layer atrophy", "definition": "Atrophy of the cerebellum affecting primarily the granular cell layer. [HPO:probinson]"} {"concept_id": "C4023055", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of central motor conduction", "definition": "Any anomaly of the conduction of motor nerve impulses in the central nervous system. [HPO:probinson, PMID:3572430]"} {"concept_id": "C4023056", "aliases": [], "types": ["T033"], "canonical_name": "Motor conduction block", "definition": "Blockade of impulses at a focal site along the course of a motor axon. [HPO:probinson]"} {"concept_id": "C4023057", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urinary acylglycine profile", "definition": "An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution. [HPO:probinson, PMID:10870848]"} {"concept_id": "C4023059", "aliases": ["Chondroitin sulphate excretion in urine"], "types": ["T033"], "canonical_name": "Chondroitin sulfate excretion in urine", "definition": "An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. [HPO:probinson]"} {"concept_id": "C4023060", "aliases": ["Keratan sulphate excretion in urine"], "types": ["T034"], "canonical_name": "Keratan sulfate excretion in urine", "definition": "An increased concentration of keratan sulfate in the urine. [HPO:probinson]"} {"concept_id": "C4023061", "aliases": ["High urine glycopeptide levels"], "types": ["T033"], "canonical_name": "Glycopeptiduria", "definition": "Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues. [HPO:probinson]"} {"concept_id": "C4023062", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary disaccharide excretion", "definition": "Increased concentration of disaccharide in the urine. [HPO:probinson]"} {"concept_id": "C4023063", "aliases": ["Multiple bony cystic lesions"], "types": ["T190"], "canonical_name": "Multiple bony cystic lesions", "definition": "Presence of multiple cystic changes in multiple areas or multiple bones. [HPO:probinson]"} {"concept_id": "C4023064", "aliases": ["Low serum calcidiol", "Low serum calcifediol", "Decreased 25-hydroxyvitamin D3", "Low serum 25-hydroxycholecalciferol"], "types": ["T033"], "canonical_name": "Decreased circulating calcifediol concentration", "definition": "A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3. [HPO:probinson]"} {"concept_id": "C4023065", "aliases": ["Low serum 1,25-dihydroxyvitamin D3", "Low serum 1,25-dihydroxycholecalciferol"], "types": ["T033"], "canonical_name": "Low serum calcitriol", "definition": "A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. [HPO:probinson]"} {"concept_id": "C4023066", "aliases": ["Wasting of pec muscles"], "types": ["T047"], "canonical_name": "Pectoralis amyotrophy", "definition": "Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. [HPO:probinson]"} {"concept_id": "C4023067", "aliases": [], "types": ["T047"], "canonical_name": "Sternocleidomastoid amyotrophy", "definition": "Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head. [HPO:probinson]"} {"concept_id": "C4023068", "aliases": ["High urine cortisol level"], "types": ["T033"], "canonical_name": "Increased urinary cortisol level", "definition": "Abnormally increased concentration of cortisol in the urine. [HPO:probinson]"} {"concept_id": "C4023069", "aliases": ["Abnormality of urine hormone level"], "types": ["T033"], "canonical_name": "Abnormal urine hormone level", "definition": "An abnormal concentration of a hormone in the urine. [HPO:probinson]"} {"concept_id": "C4023070", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating ornithine concentration", "definition": "Deviation from the normal concentration of ornithine in the blood circulation. [HPO:probinson]"} {"concept_id": "C4023071", "aliases": [], "types": ["T033"], "canonical_name": "Hypergalactosemia", "definition": "Elevated concentration of galactose in the blood. [HPO:probinson]"} {"concept_id": "C4023072", "aliases": [], "types": ["T033"], "canonical_name": "Persistent patent ductus venosus", "definition": "Persistence of blood flow through the ductus venosus for longer than the normal time after birth. [HPO:probinson, PMID:16449256]"} {"concept_id": "C4023073", "aliases": [], "types": ["T033"], "canonical_name": "EEG with temporal focal spikes", "definition": "EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region. [HPO:jalbers]"} {"concept_id": "C4023074", "aliases": [], "types": ["T033"], "canonical_name": "EEG with parietal focal spikes", "definition": "EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region. [HPO:jalbers]"} {"concept_id": "C4023075", "aliases": [], "types": ["T033"], "canonical_name": "EEG with occipital focal spikes", "definition": "EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region. [HPO:jalbers]"} {"concept_id": "C4023076", "aliases": [], "types": ["T033"], "canonical_name": "EEG with frontal focal spikes", "definition": "EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region. [HPO:jalbers]"} {"concept_id": "C4023077", "aliases": [], "types": ["T033"], "canonical_name": "EEG with central focal spikes", "definition": "EEG with focal sharp transient waves of a duration less than 80 msec in the central region. [HPO:jalbers]"} {"concept_id": "C4023078", "aliases": [], "types": ["T033"], "canonical_name": "EEG with temporal focal spike waves", "definition": "EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. [HPO:jalbers]"} {"concept_id": "C4023079", "aliases": [], "types": ["T033"], "canonical_name": "EEG with parietal focal spike waves", "definition": "EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. [HPO:jalbers]"} {"concept_id": "C4023080", "aliases": [], "types": ["T033"], "canonical_name": "EEG with occipital focal spike waves", "definition": "EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. [HPO:jalbers]"} {"concept_id": "C4023081", "aliases": [], "types": ["T033"], "canonical_name": "EEG with frontal focal spike waves", "definition": "EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. [HPO:jalbers]"} {"concept_id": "C4023082", "aliases": [], "types": ["T033"], "canonical_name": "EEG with central focal spike waves", "definition": "EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. [HPO:jalbers]"} {"concept_id": "C4023083", "aliases": ["Illusory auras", "Illusory aura"], "types": ["T047"], "canonical_name": "Focal cognitive seizure with illusion", "definition": "A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation. [HPO:probinson, PMID:28276060]"} {"concept_id": "C4023084", "aliases": ["Hallucinatory auras", "Hallucinatory aura"], "types": ["T047"], "canonical_name": "Focal cognitive seizure with hallucination", "definition": "A focal cognitive seizure characterized by hallucination as the initial semiological manifestation. [HPO:probinson, PMID:28276060]"} {"concept_id": "C4023085", "aliases": ["Mnemonic aura", "Mnemonic auras"], "types": ["T033"], "canonical_name": "Focal cognitive seizure with deja vu/jamais vu", "definition": "A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. [HPO:probinson, PMID:28276060]"} {"concept_id": "C4023087", "aliases": ["Experiential aura", "Experiential auras"], "types": ["T184"], "canonical_name": "Experiential epileptic aura", "definition": "Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. [HPO:probinson]"} {"concept_id": "C4023088", "aliases": ["EEG with generalised polyspikes"], "types": ["T033"], "canonical_name": "EEG with generalized polyspikes", "definition": "EEG with repetitive generalized sharp transient waves of a duration less than 80 msec. [HPO:jalbers]"} {"concept_id": "C4023089", "aliases": [], "types": ["T033"], "canonical_name": "Postprandial hyperlactemia", "definition": "Abnormally increased level of blood lactate following a meal. [HPO:probinson]"} {"concept_id": "C4023090", "aliases": [], "types": ["T033"], "canonical_name": "Impaired neutrophil bactericidal activity", "definition": "A reduction in the ability of neutrophils to kill bacteria. [HPO:probinson]"} {"concept_id": "C4023091", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of neutrophil morphology", "definition": "An abnormal form or size of neutrophils. [HPO:probinson]"} {"concept_id": "C4023093", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of neutrophil physiology", "definition": "A functional abnormality of neutrophils. [HPO:probinson]"} {"concept_id": "C4023094", "aliases": [], "types": ["T190"], "canonical_name": "Ectopic ossification in ligament tissue", "definition": "Formation of abnormal bony tissue within ligament tissue. [HPO:probinson]"} {"concept_id": "C4023095", "aliases": [], "types": ["T046"], "canonical_name": "Ectopic ossification in tendon tissue", "definition": "Formation of abnormal bony tissue within tendon tissue. [HPO:probinson]"} {"concept_id": "C4023096", "aliases": ["Calcification of muscle tissue"], "types": ["T046"], "canonical_name": "Ectopic ossification in muscle tissue", "definition": "Formation of abnormal bony tissue within muscle tissue. [HPO:probinson]"} {"concept_id": "C4023097", "aliases": [], "types": ["T047"], "canonical_name": "Brown pigment gallstones", "definition": "A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones. [HPO:probinson, PMID:12950109]"} {"concept_id": "C4023098", "aliases": [], "types": ["T033"], "canonical_name": "Black pigment gallstones", "definition": "A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates. [HPO:probinson, PMID:12950109]"} {"concept_id": "C4023099", "aliases": ["Elevated urinary dopamine"], "types": ["T033"], "canonical_name": "Elevated urinary dopamine", "definition": "An increased concentration of dopamine in the urine. [HPO:probinson]"} {"concept_id": "C4023100", "aliases": [], "types": ["T037"], "canonical_name": "Aminoglycoside-induced hearing loss", "definition": "Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics. [HPO:probinson, PMID:2669624]"} {"concept_id": "C4023101", "aliases": ["Elevated LH level", "Elevated luteinizing hormone", "Increased circulating luteinizing hormone level"], "types": ["T033"], "canonical_name": "Elevated circulating luteinizing hormone level", "definition": "An elevated concentration of luteinizing hormone in the blood. [HPO:probinson]"} {"concept_id": "C4023102", "aliases": [], "types": ["T033"], "canonical_name": "Elevated plasma citrulline", "definition": "An increased concentration of citrulline in the blood. [HPO:probinson]"} {"concept_id": "C4023104", "aliases": [], "types": ["T033"], "canonical_name": "Intermittent painful muscle spasms", "definition": "History of repeated intermittent involuntary muscle contractions that were painful. [HPO:probinson]"} {"concept_id": "C4023105", "aliases": [], "types": ["T033"], "canonical_name": "Pretesticular azoospermia", "definition": "Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels. [HPO:probinson, PMID:20514278]"} {"concept_id": "C4023106", "aliases": [], "types": ["T047"], "canonical_name": "Obstructive azoospermia", "definition": "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. [HPO:probinson, PMID:20514278]"} {"concept_id": "C4023107", "aliases": ["Small pec muscle on one side", "Underdeveloped pec muscle on one side"], "types": ["T190"], "canonical_name": "Unilateral hypoplasia of pectoralis major muscle", "definition": "Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest. [HPO:probinson]"} {"concept_id": "C4023108", "aliases": ["Abnormal pec muscles"], "types": ["T190"], "canonical_name": "Abnormal pectoral muscle morphology", "definition": "An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major. [HPO:probinson]"} {"concept_id": "C4023109", "aliases": [], "types": ["T033"], "canonical_name": "Intestinal lymphoid nodular hyperplasia", "definition": "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. [HPO:probinson, PMID:21481240]"} {"concept_id": "C4023110", "aliases": [], "types": ["T047"], "canonical_name": "Hepatic granulomatosis", "definition": "The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. [HPO:probinson]"} {"concept_id": "C4023111", "aliases": [], "types": ["T047"], "definition": "An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. [HPO:probinson]", "canonical_name": "Acute aspiration pneumonia"} {"concept_id": "C4023112", "aliases": [], "types": ["T047"], "canonical_name": "Acute infectious pneumonia", "definition": "Acute inflammation of the lung due to an infection. [DDD:tkuijpers]"} {"concept_id": "C4023113", "aliases": [], "types": ["T047"], "definition": "A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries. [HPO:probinson, PMID:9366584]", "canonical_name": "Small vessel vasculitis"} {"concept_id": "C4023114", "aliases": [], "types": ["T033"], "canonical_name": "Anterior wedging of L2", "definition": "An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front). [HPO:probinson]"} {"concept_id": "C4023115", "aliases": [], "types": ["T019"], "canonical_name": "3-4 finger cutaneous syndactyly", "definition": "A soft tissue continuity in the A/P axis between fingers 3 and 4. [HPO:probinson]"} {"concept_id": "C4023116", "aliases": ["Small fifth toenail", "Underdeveloped fifth toenail"], "types": ["T190"], "canonical_name": "Hypoplastic fifth toenail", "definition": "Underdeveloped nails of the fifth toes. [HPO:probinson]"} {"concept_id": "C4023117", "aliases": ["Decreased plasma total carnitine"], "types": ["T033"], "canonical_name": "Decreased plasma total carnitine", "definition": "A decreased concentration of total carnitine in the blood. [HPO:probinson]"} {"concept_id": "C4023118", "aliases": [], "types": ["T033"], "canonical_name": "Decreased urinary urate", "definition": "Decreased concentration of urate in the urine. [HPO:probinson]"} {"concept_id": "C4023119", "aliases": [], "types": ["T047"], "canonical_name": "Mesenteric artery aneurysm"} {"concept_id": "C4023120", "aliases": ["Abnormality of the superior cerebellar peduncle"], "types": ["T190"], "canonical_name": "Abnormal superior cerebellar peduncle morphology", "definition": "An anomaly of the superior cerebellar peduncle. [HPO:probinson]"} {"concept_id": "C4023121", "aliases": ["Abnormality of the cerebellar peduncle"], "types": ["T190"], "canonical_name": "Abnormal cerebellar peduncle morphology", "definition": "An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum. [HPO:probinson]"} {"concept_id": "C4023122", "aliases": [], "types": ["T190"], "canonical_name": "Hypersegmentation of proximal phalanx of third finger", "definition": "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger. [HPO:probinson]"} {"concept_id": "C4023123", "aliases": ["Short innermost toe bone"], "types": ["T190"], "canonical_name": "Short proximal phalanx of toe", "definition": "Developmental hypoplasia (shortening) of proximal phalanx of toe. [HPO:probinson]"} {"concept_id": "C4023124", "aliases": ["Short digit"], "types": ["T033"], "canonical_name": "Short digit", "definition": "One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. [HPO:probinson]"} {"concept_id": "C4023125", "aliases": [], "types": ["T033"], "canonical_name": "Decreased activity of mitochondrial ATP synthase complex", "definition": "A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. [HPO:probinson]"} {"concept_id": "C4023126", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal activity of mitochondrial respiratory chain", "definition": "An increased or decreased activity of the mitochondrial respiratory chain. [HPO:probinson]"} {"concept_id": "C4023127", "aliases": [], "types": ["T047"], "canonical_name": "Toe extensor amyotrophy", "definition": "Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes. [HPO:probinson]"} {"concept_id": "C4023128", "aliases": [], "types": ["T046"], "canonical_name": "Cardiovascular calcification", "definition": "Abnormal calcification in the cardiovascular system. [HPO:probinson]"} {"concept_id": "C4023129", "aliases": [], "types": ["T033"], "canonical_name": "Thoracic hypertrichosis", "definition": "Excessive, increased hair growth located in the thoracic region. [HPO:probinson]"} {"concept_id": "C4023130", "aliases": [], "types": ["T033"], "canonical_name": "Lumbar hypertrichosis", "definition": "Excessive, increased hair growth located in the lumbar region. [HPO:probinson]"} {"concept_id": "C4023131", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the glenoid fossa", "definition": "An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. [HPO:probinson]"} {"concept_id": "C4023132", "aliases": ["Abnormality of the knuckle"], "types": ["T190"], "canonical_name": "Abnormality of metacarpophalangeal joint", "definition": "An anomaly of a metacarpophalangeal joint. [HPO:probinson]"} {"concept_id": "C4023133", "aliases": ["Shortening of all finger bones"], "types": ["T190"], "canonical_name": "Shortening of all phalanges of fingers", "definition": "Abnormal reduction in length affecting all phalanges. [HPO:probinson]"} {"concept_id": "C4023134", "aliases": ["Flattened head of long bone of hand"], "types": ["T190"], "canonical_name": "Flattened metacarpal heads", "definition": "Abnormally flat shape of the heads of the metacarpal bones. [HPO:probinson]"} {"concept_id": "C4023135", "aliases": [], "types": ["T033"], "canonical_name": "Unilateral radial aplasia", "definition": "Missing radius bone on one side only associated with congenital failure of development. [HPO:probinson]"} {"concept_id": "C4023136", "aliases": [], "types": ["T033"], "canonical_name": "Reduced alpha/beta synthesis ratio", "definition": "A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. [HPO:probinson]"} {"concept_id": "C4023137", "aliases": [], "types": ["T033"], "canonical_name": "Reduced beta/alpha synthesis ratio", "definition": "A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia. [HPO:probinson, PMID:1060068]"} {"concept_id": "C4023138", "aliases": ["Reduced haemoglobin A", "Reduced HbA"], "types": ["T033"], "canonical_name": "Reduced hemoglobin A", "definition": "Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia. [HPO:probinson]"} {"concept_id": "C4023139", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of circulating fibrinogen", "definition": "An abnormality of the level of activity of circulating fibrinogen. [DDD:akelly]"} {"concept_id": "C4023141", "aliases": [], "types": ["T033"], "canonical_name": "Impaired thromboxane A2 agonist-induced platelet aggregation", "definition": "Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists. [DDD:wouwehand]"} {"concept_id": "C4023142", "aliases": ["Prolonged bleeding following procedure"], "types": ["T046"], "canonical_name": "Prolonged bleeding following procedure", "definition": "Prolonged or protracted bleeding following an invasive procedure or intervention. [DDD:akelly]"} {"concept_id": "C4023143", "aliases": ["Bleeding with minor or no trauma"], "types": ["T046"], "canonical_name": "Bleeding with minor or no trauma", "definition": "Significant bleeding or hemorrhage without significant precipitating factor. [DDD:kfreson]"} {"concept_id": "C4023144", "aliases": ["Bleeding requiring red cell transfusion"], "types": ["T046"], "canonical_name": "Bleeding requiring red cell transfusion", "definition": "Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4). [DDD:akelly]"} {"concept_id": "C4023145", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal umbilical stump bleeding", "definition": "Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. [DDD:akelly]"} {"concept_id": "C4023146", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal platelet granules", "definition": "An anomaly of alpha or dense granules or platelet lysosomes. [DDD:wouwehand, PMID:18041654]"} {"concept_id": "C4023147", "aliases": [], "types": ["T033"], "canonical_name": "Decreased platelet P2Y12 receptor", "definition": "Decreased cell membrane concentration of P2Y12 receptor. [DDD:wouwehand, PMID:14755328]"} {"concept_id": "C4023148", "aliases": [], "types": ["T033"], "canonical_name": "Decreased platelet glycoprotein VI", "definition": "Decreased cell membrane concentration of glycoprotein VI. [DDD:wouwehand]"} {"concept_id": "C4023149", "aliases": [], "types": ["T047"], "canonical_name": "Acute disseminated intravascular coagulation", "definition": "An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed. [HPO:probinson]"} {"concept_id": "C4023150", "aliases": [], "types": ["T033"], "canonical_name": "Decreased platelet glycoprotein Ib-IX-V", "definition": "Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V. [DDD:wouwehand, PMID:10605725]"} {"concept_id": "C4023151", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal platelet membrane protein expression", "definition": "Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry. [DDD:wouwehand]"} {"concept_id": "C4023152", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal platelet volume", "definition": "Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. [HPO:probinson]"} {"concept_id": "C4023153", "aliases": [], "types": ["T033"], "canonical_name": "Impaired thrombin-induced platelet aggregation", "definition": "Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics). [DDD:wouwehand]"} {"concept_id": "C4023154", "aliases": [], "types": ["T046"], "canonical_name": "Impaired ristocetin-induced platelet aggregation", "definition": "Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. [DDD:wouwehand]"} {"concept_id": "C4023155", "aliases": [], "types": ["T046"], "canonical_name": "Impaired arachidonic acid-induced platelet aggregation", "definition": "Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. [DDD:wouwehand]"} {"concept_id": "C4023156", "aliases": ["Abnormality of the wing of the ilium"], "types": ["T190"], "canonical_name": "Abnormal iliac wing morphology", "definition": "An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. [HPO:probinson]"} {"concept_id": "C4023157", "aliases": [], "types": ["T033"], "canonical_name": "Elevated plasma pyrophosphate", "definition": "An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. [HPO:probinson]"} {"concept_id": "C4023158", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal bone collagen fibril morphology", "definition": "Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. [HPO:probinson, MP:0011642]"} {"concept_id": "C4023159", "aliases": ["Low factor IX activity"], "types": ["T033"], "canonical_name": "Reduced factor IX activity", "definition": "Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. [HPO:probinson]"} {"concept_id": "C4023160", "aliases": [], "types": ["T047"], "canonical_name": "Serous pericardial effusion", "definition": "Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac. [HPO:probinson]"} {"concept_id": "C4023161", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal bone ossification", "definition": "Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. [HPO:probinson, PMID:18157903]"} {"concept_id": "C4023162", "aliases": ["Short 2nd long bone of foot"], "types": ["T190"], "canonical_name": "Short second metatarsal", "definition": "Short (hypoplastic) second metatarsal bone. [HPO:probinson]"} {"concept_id": "C4023163", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal appendicular skeleton morphology", "definition": "An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. [HPO:probinson]"} {"concept_id": "C4023165", "aliases": ["Abnormality of skeletal morphology", "Abnormally shaped skeletal"], "types": ["T190"], "canonical_name": "Abnormal skeletal morphology", "definition": "An abnormality of the form, structure, or size of the skeletal system. [HPO:probinson]"} {"concept_id": "C4023166", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of T cell physiology", "definition": "A functional anomaly of T cells. [HPO:probinson]"} {"concept_id": "C4023167", "aliases": [], "types": ["T033"], "canonical_name": "Partial IgA deficiency", "definition": "Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means. [HPO:probinson]"} {"concept_id": "C4023168", "aliases": [], "types": ["T190"], "canonical_name": "Delayed talus ossification", "definition": "Delayed maturation and calcification of the talus. [HPO:probinson]"} {"concept_id": "C4023169", "aliases": [], "types": ["T047"], "canonical_name": "Moyamoya phenomenon", "definition": "A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. [HPO:probinson]"} {"concept_id": "C4023170", "aliases": ["Abnormality of mucosa of mouth", "Abnormality of oral mucous membrane", "Abnormality of lining of mouth", "Abnormality of oral mucosa"], "types": ["T190"], "canonical_name": "Abnormal oral mucosa morphology", "definition": "Abnormality of the oral mucosa. [HPO:probinson]"} {"concept_id": "C4023171", "aliases": ["Chin with horizontal crease", "Chin with horizontal groove", "Chin with horizontal sulcus", "Horizontal menton crease", "Horizontal chin skin cleft", "Chin with horizontal furrow"], "types": ["T033"], "canonical_name": "Chin with horizontal crease", "definition": "Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. [PMID:19125436]"} {"concept_id": "C4023172", "aliases": ["Increased width of menton region", "Increased width of chin", "Broad chin", "Wide chin"], "types": ["T033"], "canonical_name": "Broad chin", "definition": "Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. [PMID:19125436]"} {"concept_id": "C4023174", "aliases": [], "types": ["T046"], "canonical_name": "Membranous choanal atresia", "definition": "Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike. [DDD:jhurst]"} {"concept_id": "C4023175", "aliases": ["Partial thickness cleft soft palate", "Submucous cleft velum"], "types": ["T019"], "canonical_name": "Submucous cleft soft palate", "definition": "A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. [HPO:probinson]"} {"concept_id": "C4023176", "aliases": [], "types": ["T019"], "definition": "Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares. [HPO:probinson, PMID:4966739]", "canonical_name": "Basal encephalocele"} {"concept_id": "C4023177", "aliases": [], "types": ["T033"], "canonical_name": "Increased cerebral lipofuscin", "definition": "Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. [HPO:probinson, PMID:9531959]"} {"concept_id": "C4023178", "aliases": [], "types": ["T033"], "canonical_name": "Impaired two-point discrimination", "definition": "A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart. [HPO:probinson]"} {"concept_id": "C4023179", "aliases": [], "types": ["T047"], "canonical_name": "Paradoxical myotonia", "definition": "A type of myotonia that worsens with repeated muscle contractions. [HPO:probinson, PMID:7678441]"} {"concept_id": "C4023180", "aliases": ["Type 1 muscle fibre atrophy"], "types": ["T047"], "canonical_name": "Type 1 muscle fiber atrophy", "definition": "Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. [HPO:probinson]"} {"concept_id": "C4023181", "aliases": ["Issue with muscle structure", "Abnormality of muscle morphology", "Abnormally shaped muscle", "Abnormal muscle morphology"], "types": ["T190"], "canonical_name": "Abnormal skeletal muscle morphology", "definition": "A structural abnormality of a skeletal muscle. [HPO:probinson]"} {"concept_id": "C4023182", "aliases": ["Issue with muscle function", "Abnormality of muscle physiology"], "types": ["T046"], "canonical_name": "Abnormal muscle physiology", "definition": "A functional abnormality of a skeletal muscle. [HPO:probinson]"} {"concept_id": "C4023183", "aliases": ["Anomaly of facial soft tissue", "Abnormality of facial soft tissue", "Malformation of facial soft tissue", "Deformity of facial soft tissue"], "types": ["T190"], "canonical_name": "Abnormality of facial soft tissue"} {"concept_id": "C4023184", "aliases": [], "types": ["T191"], "canonical_name": "Embryonal renal neoplasm", "definition": "The presence of an embryonal neoplasm of the kidney that primarily affects children. [DDD:rscott]"} {"concept_id": "C4023185", "aliases": [], "types": ["T191"], "canonical_name": "Neoplasm by anatomical site", "definition": "Neoplasm categorized according to the anatomical site of origin of the neoplasm. [DDD:rscott]"} {"concept_id": "C4023186", "aliases": [], "types": ["T191"], "canonical_name": "Neoplasm by histology", "definition": "Neoplasm categorized according to type of histological abnormality. [DDD:rscott]"} {"concept_id": "C4023187", "aliases": ["Inactivating TSHR defect"], "types": ["T033"], "canonical_name": "Inactivating thyroid-stimulating hormone receptor defect", "definition": "Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect. [DDD:spark]"} {"concept_id": "C4023188", "aliases": ["Activating TSHR defect"], "types": ["T033"], "canonical_name": "Activating thyroid-stimulating hormone receptor defect", "definition": "Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect. [DDD:spark]"} {"concept_id": "C4023189", "aliases": ["TSHR defect", "Thyroid-stimulating hormone receptor defect"], "types": ["T033"], "canonical_name": "Impaired sensitivity to thyroid stimulating hormone", "definition": "Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH). [PMID:28648507]"} {"concept_id": "C4023190", "aliases": [], "types": ["T047"], "definition": "Absence of a lobe of the thyroid gland related to a failure of its embryologic development. [DDD:spark]", "canonical_name": "Thyroid hemiagenesis"} {"concept_id": "C4023191", "aliases": [], "types": ["T191"], "canonical_name": "Thyroid atypical adenoma"} {"concept_id": "C4023192", "aliases": [], "types": ["T191"], "canonical_name": "Thyroid papillary adenoma"} {"concept_id": "C4023193", "aliases": [], "types": ["T191"], "canonical_name": "Thyroid microfollicular adenoma"} {"concept_id": "C4023194", "aliases": [], "types": ["T191"], "canonical_name": "Thyroid macrofollicular adenoma"} {"concept_id": "C4023195", "aliases": ["Abnormality of thyroid morphology", "Abnormal shape of thyroid gland"], "types": ["T190"], "canonical_name": "Abnormal thyroid morphology", "definition": "A structural abnormality of the thyroid gland. [DDD:spark]"} {"concept_id": "C4023196", "aliases": [], "types": ["T190"], "canonical_name": "Ectopic parathyroid", "definition": "An abnormal anatomical location of the parathyroid gland. [DDD:spark]"} {"concept_id": "C4023197", "aliases": [], "types": ["T190"], "canonical_name": "Parathyroid dysgenesis", "definition": "Abnormal embryonic development of the parathyroid gland. [DDD:spark]"} {"concept_id": "C4023198", "aliases": ["Parathyroid dysfunction"], "types": ["T047"], "definition": "A functional abnormality of the parathyroid gland. [DDD:spark, HPO:probinson]", "canonical_name": "Abnormality of the parathyroid physiology"} {"concept_id": "C4023199", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the parathyroid morphology", "definition": "A structural abnormality of the parathyroid gland. [DDD:spark, HPO:probinson]"} {"concept_id": "C4023200", "aliases": [], "types": ["T191"], "canonical_name": "Pituitary spindle cell oncocytoma", "definition": "A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular. [DDD:spark, PMID:21886889]"} {"concept_id": "C4023201", "aliases": [], "types": ["T191"], "canonical_name": "Pituitary acidophilic stem cell adenoma"} {"concept_id": "C4023202", "aliases": ["Neurohypophysis hypoplasia"], "types": ["T190"], "canonical_name": "Posterior pituitary hypoplasia", "definition": "Underdevelopment of the neurohypophysis. [DDD:spark]"} {"concept_id": "C4023203", "aliases": ["Neurohypophysis agenesis"], "types": ["T190"], "canonical_name": "Posterior pituitary agenesis", "definition": "Absence of the neurohypophysis owing to a developmental defect. [DDD:spark]"} {"concept_id": "C4023204", "aliases": ["Abnormality of the neurohypophysis"], "types": ["T190"], "canonical_name": "Abnormality of the posterior pituitary", "definition": "An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis. [DDD:spark, HPO:probinson]"} {"concept_id": "C4023205", "aliases": ["Neoplasm of the adenohypophysis", "Neoplasm of the pars anterior"], "types": ["T191"], "canonical_name": "Neoplasm of the anterior pituitary", "definition": "A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. [DDD:spark]"} {"concept_id": "C4023206", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the anterior pituitary", "definition": "An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. [DDD:spark]"} {"concept_id": "C4023207", "aliases": [], "types": ["T047"], "canonical_name": "Secondary hypercortisolism", "definition": "Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol. [HPO:probinson]"} {"concept_id": "C4023208", "aliases": [], "types": ["T047"], "canonical_name": "Glucocortocoid-insensitive primary hyperaldosteronism", "definition": "A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids. [DDD:spark, HPO:probinson]"} {"concept_id": "C4023209", "aliases": [], "types": ["T047"], "canonical_name": "Dexamethasone-suppressible primary hyperaldosteronism", "definition": "A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone. [DDD:spark, HPO:probinson]"} {"concept_id": "C4023210", "aliases": ["CRHR defect"], "types": ["T033"], "canonical_name": "Corticotropin-releasing hormone receptor defect", "definition": "Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor. [DDD:spark]"} {"concept_id": "C4023211", "aliases": ["ACTH deficient adrenal insufficiency"], "types": ["T047"], "canonical_name": "Adrenocorticotropin deficient adrenal insufficiency", "definition": "Adrenal insufficiency secondary to a defect in ACTH production. [DDD:spark]"} {"concept_id": "C4023212", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of adrenal physiology", "definition": "A functional abnormality of the adrenal glands. [HPO:probinson]"} {"concept_id": "C4023213", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of adrenal morphology", "definition": "Any structural anomaly of the adrenal glands. [HPO:probinson]"} {"concept_id": "C4023214", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of circulating cortisol level", "definition": "An abnormality of the concentration of cortisol in the blood. [HPO:probinson]"} {"concept_id": "C4023215", "aliases": ["Abnormality of central sensory function"], "types": ["T033"], "canonical_name": "Abnormal central sensory function", "definition": "An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. [HPO:probinson]"} {"concept_id": "C4023216", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of joint mobility", "definition": "An abnormality in the range and ease of motion of joints across their normal range. [HPO:probinson]"} {"concept_id": "C4023217", "aliases": [], "types": ["T190"], "canonical_name": "Elbow clonus", "definition": "Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint. [HPO:probinson]"} {"concept_id": "C4023218", "aliases": [], "types": ["T047"], "canonical_name": "Chaotic multifocal atrial tachycardia"} {"concept_id": "C4023219", "aliases": [], "types": ["T019"], "canonical_name": "Congenital malformation of the right heart", "definition": "Defect or defects of the morphogenesis of the right heart identifiable at birth. []"} {"concept_id": "C4023221", "aliases": [], "types": ["T047"], "canonical_name": "Libman-Sacks lesions", "definition": "Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve. [PMID:18421506]"} {"concept_id": "C4023222", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal electrophysiology of sinoatrial node origin", "definition": "An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. [HPO:probinson]"} {"concept_id": "C4023223", "aliases": [], "types": ["T046"], "canonical_name": "Atrial reentry tachycardia"} {"concept_id": "C4023224", "aliases": [], "types": ["T047"], "canonical_name": "Supraventricular tachycardia with a manifest accessory pathway on the septum"} {"concept_id": "C4023225", "aliases": [], "types": ["T047"], "canonical_name": "Supraventricular tachycardia with a manifest accessory pathway on the right free wall"} {"concept_id": "C4023226", "aliases": [], "types": ["T033"], "canonical_name": "Supraventricular tachycardia with a manifest accessory pathway on the left free wall"} {"concept_id": "C4023227", "aliases": [], "types": ["T047"], "canonical_name": "Supraventricular tachycardia with a manifest accessory pathway"} {"concept_id": "C4023228", "aliases": [], "types": ["T033"], "canonical_name": "Supraventricular tachycardia with a concealed accessory pathway on the septum"} {"concept_id": "C4023229", "aliases": [], "types": ["T033"], "canonical_name": "Supraventricular tachycardia with a concealed accessory pathway on the right free wall"} {"concept_id": "C4023230", "aliases": [], "types": ["T033"], "canonical_name": "Supraventricular tachycardia with a concealed accessory pathway on the left free wall"} {"concept_id": "C4023231", "aliases": ["Supraventricular tachycardia with a concealed accessory connexion"], "types": ["T047"], "canonical_name": "Supraventricular tachycardia with a concealed accessory connection", "definition": "Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm. [PMID:22459483]"} {"concept_id": "C4023232", "aliases": [], "types": ["T190"], "canonical_name": "Infra-aortic superior vena cava", "definition": "The superior vena cava passes below the aortic arch. [DDD:dbrown]"} {"concept_id": "C4023233", "aliases": [], "types": ["T019"], "canonical_name": "Single ventricle of indeterminate morphology"} {"concept_id": "C4023234", "aliases": [], "types": ["T019"], "canonical_name": "Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries", "definition": "A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA). [HPO:probinson, PMID:22368654]"} {"concept_id": "C4023235", "aliases": [], "types": ["T019"], "canonical_name": "Tetralogy of Fallot with atrioventricular canal defect"} {"concept_id": "C4023236", "aliases": [], "types": ["T019"], "canonical_name": "Tetralogy of Fallot with absent subarterial conus"} {"concept_id": "C4023237", "aliases": [], "types": ["T019"], "canonical_name": "Interrupted inferior vena cava with azygous continuation", "definition": "Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava. [DDD:dbrown, PMID:10550884]"} {"concept_id": "C4023238", "aliases": [], "types": ["T019"], "canonical_name": "Left superior vena cava draining directly to the left atrium", "definition": "A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt. [PMID:18847480]"} {"concept_id": "C4023239", "aliases": [], "types": ["T019"], "canonical_name": "Bilateral superior vena cava with no bridging vein"} {"concept_id": "C4023240", "aliases": [], "types": ["T019"], "canonical_name": "Bilateral superior vena cava with bridging vein"} {"concept_id": "C4023242", "aliases": ["DORV with subpulmonary VSD and pulmonary stenosis"], "types": ["T019"], "canonical_name": "Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis", "definition": "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:6193702]"} {"concept_id": "C4023243", "aliases": ["DORV with subaortic VSD without pulmonary stenosis"], "types": ["T019"], "definition": "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:6193702]", "canonical_name": "Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis"} {"concept_id": "C4023244", "aliases": ["DORV with subaortic VSD and pulmonary stenosis"], "types": ["T019"], "canonical_name": "Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis", "definition": "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:6193702]"} {"concept_id": "C4023245", "aliases": ["DORV with non-committed VSD without pulmonary stenosis"], "types": ["T019"], "canonical_name": "Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis", "definition": "A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:10431853]"} {"concept_id": "C4023246", "aliases": ["DORV with non-committed VSD and pulmonary stenosis"], "types": ["T019"], "canonical_name": "Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis", "definition": "A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:10431853]"} {"concept_id": "C4023247", "aliases": [], "types": ["T019"], "canonical_name": "Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis", "definition": "A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:6193702]"} {"concept_id": "C4023248", "aliases": [], "types": ["T019"], "canonical_name": "Patent ductus arteriosus after premature birth", "definition": "Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation. [DDD:dbrown]"} {"concept_id": "C4023249", "aliases": [], "types": ["T019"], "canonical_name": "Patent ductus arteriosus after birth at term", "definition": "Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater. [DDD:dbrown]"} {"concept_id": "C4023250", "aliases": [], "types": ["T190"], "canonical_name": "Juxtaductal coarctation of the aorta", "definition": "Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch. [DDD:dbrown, HPO:probinson]"} {"concept_id": "C4023251", "aliases": [], "types": ["T190"], "canonical_name": "Single coronary artery origin", "definition": "The presence of a single coronary artery ostium from which both coronary arteries arise. [DDD:dbrown, HPO:probinson, PMID:4547578]"} {"concept_id": "C4023252", "aliases": [], "types": ["T190"], "canonical_name": "Anomalous origin of coronary artery from the pulmonary artery", "definition": "A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta. [DDD:dbrown, HPO:probinson]"} {"concept_id": "C4023253", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal coronary artery origin", "definition": "Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries. [DDD:dbrown]"} {"concept_id": "C4023254", "aliases": [], "types": ["T019"], "canonical_name": "Partial diaphragmatic absence of pericardium", "definition": "Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. [DDD:dbrown]"} {"concept_id": "C4023255", "aliases": [], "types": ["T019"], "canonical_name": "Partial left sided absence of pericardium", "definition": "A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart. [DDD:dbrown]"} {"concept_id": "C4023256", "aliases": ["Absent lining around of left side of heart"], "types": ["T019"], "canonical_name": "Complete left sided absence of pericardium", "definition": "A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart. [DDD:dbrown]"} {"concept_id": "C4023257", "aliases": [], "types": ["T019"], "canonical_name": "Partial right sided absence of pericardium", "definition": "A congenital anomaly with lack of part of the pericardium on the righthand side of the heart. [DDD:dbrown]"} {"concept_id": "C4023258", "aliases": [], "types": ["T019"], "canonical_name": "Complete right sided absence of pericardium", "definition": "No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy. [DDD:dbrown]"} {"concept_id": "C4023259", "aliases": [], "types": ["T019"], "canonical_name": "Complete diaphragmatic absence of pericardium", "definition": "No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. [DDD:dbrown]"} {"concept_id": "C4023261", "aliases": [], "types": ["T019"], "canonical_name": "Congenital defect of the pericardium", "definition": "A developmental defect of the pericardium with congenital onset. [DDD:dbrown]"} {"concept_id": "C4023262", "aliases": [], "types": ["T019"], "definition": "Congenital anomaly characterized by an extra-cardiac channel connecting the AORTA either to the right or left HEART VENTRICLE.", "canonical_name": "Aorto-ventricular tunnel"} {"concept_id": "C4023263", "aliases": ["Swiss cheese ventricular septal defect"], "types": ["T190"], "canonical_name": "Multiple muscular ventricular septal defects", "definition": "A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum. [PMID:22718060]"} {"concept_id": "C4023264", "aliases": [], "types": ["T190"], "canonical_name": "Apical muscular ventricular septal defect", "definition": "A muscular ventricular septal defect located at the apex of the heart. [DDD:dbrown]"} {"concept_id": "C4023265", "aliases": [], "types": ["T019"], "canonical_name": "Gerbode ventricular septal defect", "definition": "A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve. [DDD:dbrown, PMID:19561249]"} {"concept_id": "C4023266", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of abdominal situs", "definition": "An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs. [DDD:dbrown]"} {"concept_id": "C4023267", "aliases": [], "types": ["T190"], "canonical_name": "Pulmonary situs ambiguus with bilateral morphologic left lungs", "definition": "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung. [DDD:dbrown]"} {"concept_id": "C4023268", "aliases": [], "types": ["T190"], "canonical_name": "Pulmonary situs ambiguus with bilateral morphologic right lungs", "definition": "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung. [DDD:dbrown, HPO:probinson]"} {"concept_id": "C4023269", "aliases": [], "types": ["T190"], "canonical_name": "Pulmonary situs ambiguus", "definition": "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same. [DDD:dbrown]"} {"concept_id": "C4023270", "aliases": [], "types": ["T190"], "canonical_name": "Pulmonary situs inversus", "definition": "Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus. [DDD:dbrown]"} {"concept_id": "C4023271", "aliases": ["Abnormality of pulmonary situs"], "types": ["T190"], "canonical_name": "Abnormal pulmonary situs morphology", "definition": "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi. [DDD:dbrown]"} {"concept_id": "C4023272", "aliases": ["CCTGA", "ccTGA"], "types": ["T019"], "canonical_name": "Congenitally corrected transposition of the great arteries with ventricular septal defect", "definition": "A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum. [PMID:21569592, PMID:27777298, PMID:32274202]"} {"concept_id": "C4023273", "aliases": [], "types": ["T190"], "canonical_name": "Midline direction of ventricular apex", "definition": "Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal. [DDD:dbrown]"} {"concept_id": "C4023274", "aliases": [], "types": ["T190"], "canonical_name": "Rightward direction of ventricular apex", "definition": "Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal. [DDD:dbrown]"} {"concept_id": "C4023275", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal direction of ventricular apex", "definition": "Abnormal plane of direction of the heart from the base to the apex. Left sided is normal. [DDD:dbrown]"} {"concept_id": "C4023276", "aliases": [], "types": ["T190"], "canonical_name": "Right aortic arch with left descending aorta and left ductus arteriosus"} {"concept_id": "C4023277", "aliases": [], "types": ["T190"], "canonical_name": "Left aortic arch with right descending aorta and right ductus arteriosus", "definition": "The ring may be completed by the ductal ligament. [DDD:dbrown]"} {"concept_id": "C4023278", "aliases": [], "types": ["T190"], "canonical_name": "Left aortic arch with retroesophageal right subclavian artery", "definition": "Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body. [DDD:dbrown]"} {"concept_id": "C4023279", "aliases": [], "types": ["T019"], "canonical_name": "Right aortic arch with retroesophageal diverticulum of Kommerell", "definition": "Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch. [DDD:dbrown, PMID:12075866]"} {"concept_id": "C4023280", "aliases": [], "types": ["T190"], "canonical_name": "Left aortic arch with isolated subclavian artery", "definition": "The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis. [DDD:dbrown]"} {"concept_id": "C4023281", "aliases": [], "types": ["T190"], "canonical_name": "Left aortic arch with cervical origin of the right subclavian artery"} {"concept_id": "C4023282", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal branching pattern of the aortic arch", "definition": "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries. [DDD:dbrown]"} {"concept_id": "C4023283", "aliases": [], "types": ["T019"], "canonical_name": "Thoracoabdominal ectopia cordis", "definition": "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity. [DDD:dbrown, HPO:probinson, PMID:19479716]"} {"concept_id": "C4023284", "aliases": [], "types": ["T019"], "canonical_name": "Thoracic ectopia cordis", "definition": "Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum. [DDD:dbrown, HPO:probinson]"} {"concept_id": "C4023285", "aliases": [], "types": ["T019"], "canonical_name": "Thoracocervical ectopia cordis", "definition": "A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum. [DDD:dbrown, HPO:probinson]"} {"concept_id": "C4023286", "aliases": [], "types": ["T190"], "canonical_name": "Cervical ectopia cordis", "definition": "A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum. [DDD:dbrown, HPO:probinson]"} {"concept_id": "C4023287", "aliases": [], "types": ["T019"], "canonical_name": "Abdominal ectopia cordis", "definition": "Displacement of the heart outside the thoracic cavity and into the abdomen. [DDD:dbrown]"} {"concept_id": "C4023288", "aliases": [], "types": ["T190"], "canonical_name": "Short chordae tendineae of the mitral valve", "definition": "Abnormally short chordae tendineae of the mitral valve. [HPO:probinson]"} {"concept_id": "C4023289", "aliases": [], "types": ["T019"], "definition": "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices. [DDD:dbrown]", "canonical_name": "Transitional atrioventricular canal defect"} {"concept_id": "C4023290", "aliases": [], "types": ["T019"], "definition": "A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices. [DDD:dbrown]", "canonical_name": "Partial atrioventricular canal defect"} {"concept_id": "C4023291", "aliases": ["Intermediate atrioventricular septal defect"], "types": ["T019"], "definition": "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices. [DDD:dbrown]", "canonical_name": "Intermediate atrioventricular canal defect"} {"concept_id": "C4023292", "aliases": ["Unopened tricuspid valve"], "types": ["T190"], "canonical_name": "Imperforate tricuspid valve", "definition": "A tricuspid valve that has failed to open. [DDD:dbrown, PMID:7066117]"} {"concept_id": "C4023293", "aliases": ["Unopened atrioventricular valve"], "types": ["T190"], "canonical_name": "Imperforate atrioventricular valve", "definition": "An atrioventricular valve that has failed to open (atretic). [DDD:dbrown]"} {"concept_id": "C4023295", "aliases": [], "types": ["T190"], "canonical_name": "Cleft anterior mitral valve leaflet", "definition": "Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect. [DDD:dbrown, PMID:6829465]"} {"concept_id": "C4023297", "aliases": [], "types": ["T190"], "canonical_name": "Straddling atrioventricular valve", "definition": "Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect. [DDD:dbrown, HPO:probinson, PMID:7295418]"} {"concept_id": "C4023298", "aliases": [], "types": ["T190"], "canonical_name": "Overriding atrioventricular valve", "definition": "An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect. [DDD:dbrown, HPO:probinson, PMID:7295418]"} {"concept_id": "C4023299", "aliases": [], "types": ["T019"], "canonical_name": "Double inlet to single ventricle with two atrioventricular valves"} {"concept_id": "C4023300", "aliases": [], "types": ["T190"], "canonical_name": "Double inlet to single ventricle with common atrioventricular orifice"} {"concept_id": "C4023301", "aliases": [], "types": ["T190"], "canonical_name": "Double inlet to single ventricle of indeterminate morphology", "definition": "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle. [DDD:dbrown, HPO:probinson]"} {"concept_id": "C4023302", "aliases": ["Double inlet atrioventricular connexion"], "types": ["T190"], "definition": "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. [DDD:dbrown, HPO:probinson]", "canonical_name": "Double inlet atrioventricular connection"} {"concept_id": "C4023303", "aliases": ["Right sided atrium to left ventricle and absent left sided atrioventricular connexion"], "types": ["T190"], "canonical_name": "Right sided atrium to left ventricle and absent left sided atrioventricular connection"} {"concept_id": "C4023304", "aliases": [], "types": ["T019"], "canonical_name": "Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection"} {"concept_id": "C4023305", "aliases": ["Univentricular heart with absent left sided atrioventricular connexion"], "types": ["T190"], "canonical_name": "Univentricular heart with absent left sided atrioventricular connection"} {"concept_id": "C4023306", "aliases": ["Discordant connection of the cardiac segments", "Abnormal connexion of the cardiac segments"], "types": ["T190"], "canonical_name": "Abnormal connection of the cardiac segments", "definition": "A deviance in the normal connections between two cardiac segements. [PMID:24876921]"} {"concept_id": "C4023307", "aliases": [], "types": ["T190"], "canonical_name": "L-looping of the right ventricle"} {"concept_id": "C4023308", "aliases": [], "types": ["T190"], "canonical_name": "Superior-inferior ventricles without criss-cross atrioventricular valves"} {"concept_id": "C4023309", "aliases": [], "types": ["T190"], "canonical_name": "Criss-cross atrioventricular valves with superior-inferior ventricles", "definition": "Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side. [PMID:11789809]"} {"concept_id": "C4023310", "aliases": [], "types": ["T033"], "canonical_name": "Criss-cross atrioventricular valves", "definition": "Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis. [DDD:dbrown, HPO:probinson]"} {"concept_id": "C4023312", "aliases": [], "types": ["T019"], "definition": "Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side. [DDD:dbrown]", "canonical_name": "Atrial situs inversus"} {"concept_id": "C4023313", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal spatial orientation of the cardiac segments", "definition": "Abnormality of the spatial relationship of the cardiac segments to other components of the heart. []"} {"concept_id": "C4023314", "aliases": ["Abnormality of lens shape"], "types": ["T190"], "canonical_name": "Abnormality of lens shape", "definition": "An abnormal shape of the lens. [HPO:probinson]"} {"concept_id": "C4023316", "aliases": [], "types": ["T190"], "canonical_name": "Anomalous trichromacy", "definition": "Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones. [HPO:probinson]"} {"concept_id": "C4023317", "aliases": [], "types": ["T047"], "canonical_name": "Dichromacy", "definition": "Individuals affected by dichromacy possess only two types of cones, instead of three. [HPO:probinson]"} {"concept_id": "C4023318", "aliases": [], "types": ["T047"], "canonical_name": "Cone monochromacy", "definition": "The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors. [DDD:ncarter]"} {"concept_id": "C4023319", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal stereopsis", "definition": "Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head. [DDD:gblack]"} {"concept_id": "C4023320", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of binocular vision", "definition": "An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. [DDD:ncarter]"} {"concept_id": "C4023321", "aliases": [], "types": ["T047"], "canonical_name": "Macular schisis", "definition": "Splitting of the retina in the macular region. [DDD:gblack]"} {"concept_id": "C4023322", "aliases": [], "types": ["T033"], "definition": "Pale often indistinct lesions of the macula. [DDD:gblack]", "canonical_name": "Macular flecks"} {"concept_id": "C4023324", "aliases": ["Absent fovea"], "types": ["T033"], "canonical_name": "Aplasia of the fovea", "definition": "Congenital absence of the fovea. [HPO:probinson]"} {"concept_id": "C4023326", "aliases": ["Abnormality of corneal epithelium"], "types": ["T190"], "canonical_name": "Abnormal corneal epithelium morphology", "definition": "Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. [DDD:gblack]"} {"concept_id": "C4023327", "aliases": [], "types": ["T033"], "canonical_name": "Central opacification of the cornea", "definition": "Reduced transparency of the central portion of the corneal stroma. [DDD:ncarter]"} {"concept_id": "C4023328", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of corneal stroma", "definition": "An abnormality of the stroma of cornea, also known as the substantia propria of cornea. [DDD:ncarter, HPO:probinson]"} {"concept_id": "C4023329", "aliases": [], "types": ["T033"], "canonical_name": "Reduced number of corneal endothelial cells", "definition": "A reduction in the number of corneal endothelial cells. [DDD:ncarter]"} {"concept_id": "C4023330", "aliases": ["Abnormality of Descemet's membrane"], "types": ["T190"], "canonical_name": "Abnormal Descemet membrane morphology", "definition": "Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. [DDD:gblack]"} {"concept_id": "C4023331", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal migration of corneal endothelium", "definition": "Abnormal migration of corneal endothelium. [DDD:ncarter]"} {"concept_id": "C4023332", "aliases": ["Abnormality of corneal endothelium"], "types": ["T190"], "canonical_name": "Abnormal corneal endothelium morphology", "definition": "Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. [DDD:gblack]"} {"concept_id": "C4023333", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of corneal thickness", "definition": "An abnormal anteroposterior thickness of the cornea. [DDD:gblack]"} {"concept_id": "C4023334", "aliases": [], "types": ["T019"], "canonical_name": "Corneolenticular adhesion", "definition": "Developmental abnormality in which the lens and cornea are not separated. [DDD:ncarter]"} {"concept_id": "C4023336", "aliases": ["Abnormality of the lacrimal gland"], "types": ["T190"], "canonical_name": "Abnormal lacrimal gland morphology", "definition": "Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye. [HPO:probinson]"} {"concept_id": "C4023337", "aliases": ["Abnormality of the lacrimal punctum"], "types": ["T190"], "canonical_name": "Abnormal lacrimal punctum morphology", "definition": "An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid. [HPO:probinson]"} {"concept_id": "C4023338", "aliases": [], "types": ["T047"], "canonical_name": "Profound sensorineural hearing impairment", "definition": "Complete loss of hearing related to a sensorineural defect. [DDD:dfitzpatrick]"} {"concept_id": "C4023339", "aliases": [], "types": ["T190"], "canonical_name": "Persistent stapedial artery", "definition": "Persistence of the stapedial artery, which normally regresses during embryonic life. [DDD:mbitner-glidicz]"} {"concept_id": "C4023340", "aliases": [], "types": ["T047"], "canonical_name": "Childhood onset sensorineural hearing impairment", "definition": "Sensorineural hearing impairment with childhood onset. [DDD:dfitzpatrick]"} {"concept_id": "C4023341", "aliases": ["Abnormal shape of small intestinal villus"], "types": ["T190"], "canonical_name": "Abnormality of small intestinal villus morphology"} {"concept_id": "C4023342", "aliases": [], "types": ["T033"], "canonical_name": "Gastrostomy tube feeding in infancy", "definition": "Feeding problem necessitating gastrostomy tube feeding. [DDD:ncarter]"} {"concept_id": "C4023343", "aliases": [], "types": ["T033"], "canonical_name": "Nasogastric tube feeding in infancy", "definition": "Feeding problem necessitating nasogastric tube feeding. [DDD:ncarter]"} {"concept_id": "C4023344", "aliases": ["Absent/small gallbladder", "Absent/underdeveloped gallbladder"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the gallbladder", "definition": "Absence or underdevelopment of the gallbladder. [HPO:probinson]"} {"concept_id": "C4023345", "aliases": [], "types": ["T190"], "canonical_name": "Duodenal aganglionosis", "definition": "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum. [DDD:hfirth]"} {"concept_id": "C4023346", "aliases": [], "types": ["T190"], "canonical_name": "Aganglionosis of the small intestine", "definition": "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine. [DDD:hfirth]"} {"concept_id": "C4023347", "aliases": ["Foetal onset"], "types": ["T033"], "canonical_name": "Fetal onset", "definition": "Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). [DDD:whouwehand]"} {"concept_id": "C4023348", "aliases": [], "types": ["T033"], "canonical_name": "Embryonal onset", "definition": "Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation). [DDD:whouwehand]"} {"concept_id": "C4023349", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the malleus", "definition": "An abnormality of the malleus, an ossicle in the middle ear. [DDD:dfitzpatrick]"} {"concept_id": "C4023350", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the incus", "definition": "An abnormality of the incus, an ossicle in the middle ear. [DDD:dfitzpatrick]"} {"concept_id": "C4023351", "aliases": ["Hyposegmentation of neutrophil nuclei in peripheral blood"], "types": ["T049"], "canonical_name": "Hyposegmentation of neutrophil nuclei", "definition": "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. [DDD:probinson]"} {"concept_id": "C4023352", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of higher mental function", "definition": "Cognitive, psychiatric or memory anomaly. [DDD:ajackson]"} {"concept_id": "C4023353", "aliases": ["Abnormality of coordination", "Coordination issue"], "types": ["T033"], "canonical_name": "Abnormality of coordination"} {"concept_id": "C4023354", "aliases": ["Abnormality of central motor function"], "types": ["T046"], "canonical_name": "Abnormal central motor function", "definition": "An anomaly of the control or production of movement in the central nervous system. [HPO:probinson]"} {"concept_id": "C4023355", "aliases": [], "types": ["T033"], "canonical_name": "Alcohol-induced rhabdomyolysis", "definition": "Rhabdomyolysis induced by intake of alcohol. [HPO:probinson]"} {"concept_id": "C4023356", "aliases": [], "types": ["T047"], "canonical_name": "Anesthetic-induced rhabdomylosis", "definition": "Rhabdomyolysis induced by anesthesia. [HPO:probinson]"} {"concept_id": "C4023357", "aliases": [], "types": ["T033"], "canonical_name": "Maternal teratogenic exposure", "definition": "A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy. [DDD:hfirth]"} {"concept_id": "C4023358", "aliases": [], "types": ["T047"], "canonical_name": "Maternal autoimmune disease", "definition": "A medical history of a fetus or child born to a mother with an autoimmune disease. [DDD:hfirth]"} {"concept_id": "C4023359", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal maternal serum screening", "definition": "An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy. [DDD:hfirth, PMID:19038077]"} {"concept_id": "C4023360", "aliases": [], "types": ["T033"], "canonical_name": "Low maternal serum PAPP-A", "definition": "An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age. [DDD:hfirth, PMID:19038077]"} {"concept_id": "C4023361", "aliases": ["Increased maternal serum alpha-fetoprotein level", "High MSAFP MoM", "MSAFP MoM>2.5", "High maternal serum alpha-fetoprotein MoM"], "types": ["T033"], "canonical_name": "High maternal serum alpha-fetoprotein", "definition": "Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy. [PMID:32039804]"} {"concept_id": "C4023362", "aliases": ["Foetal fifth finger clinodactyly"], "types": ["T019"], "canonical_name": "Fetal fifth finger clinodactyly", "definition": "Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637). [HPO:probinson, PMID:16100637]"} {"concept_id": "C4023363", "aliases": ["Hypoplasia of foetal nasal bone", "Underdeveloped foetal nose bone", "Underdeveloped fetal nose bone"], "types": ["T033"], "canonical_name": "Hypoplasia of fetal nasal bone", "definition": "On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637). [HPO:probinson, PMID:16100637]"} {"concept_id": "C4023364", "aliases": ["Short foetal humerus length", "Short foetal long bone in upper arm length", "Short fetal long bone in upper arm length"], "types": ["T019"], "canonical_name": "Short fetal humerus length", "definition": "A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). [HPO:probinson, PMID:16100637]"} {"concept_id": "C4023365", "aliases": ["Enlarged foetal cisterna magna"], "types": ["T033"], "canonical_name": "Enlarged fetal cisterna magna", "definition": "The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637). [DDD:hfirth, PMID:16100637]"} {"concept_id": "C4023366", "aliases": ["Foetal ultrasound soft marker"], "types": ["T033"], "canonical_name": "Fetal ultrasound soft marker", "definition": "An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. [PMID:16100637]"} {"concept_id": "C4023367", "aliases": ["Abnormal blood Cl concentration", "Abnormal blood Cl- concentration", "Abnormality of chloride homeostasis"], "types": ["T033"], "canonical_name": "Abnormal blood chloride concentration", "definition": "An abnormality of chloride homeostasis or concentration in the body. [HPO:probinson]"} {"concept_id": "C4023368", "aliases": ["Death in adolescence"], "types": ["T033"], "canonical_name": "Death in adolescence", "definition": "Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years). [HPO:probinson]"} {"concept_id": "C4023369", "aliases": ["Abnormality of placental membranes"], "types": ["T190"], "canonical_name": "Abnormal placental membrane morphology", "definition": "Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix. [PMID:28939208]"} {"concept_id": "C4023370", "aliases": [], "types": ["T033"], "canonical_name": "Moderate intrauterine growth retardation", "definition": "Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age. [DDD:hfirth]"} {"concept_id": "C4023371", "aliases": [], "types": ["T033"], "canonical_name": "Proportionate tall stature"} {"concept_id": "C4023372", "aliases": ["Abnormal umbilical cord blood vessels"], "types": ["T019"], "canonical_name": "Abnormal umbilical cord blood vessel morphology"} {"concept_id": "C4023373", "aliases": [], "types": ["T047"], "canonical_name": "Demyelinating sensory neuropathy", "definition": "Demyelination of peripheral sensory nerves. [HPO:probinson]"} {"concept_id": "C4023374", "aliases": [], "types": ["T033"], "canonical_name": "Delayed peripheral myelination", "definition": "Delayed myelination in the peripheral nervous system. [HPO:probinson]"} {"concept_id": "C4023375", "aliases": ["Tibialis muscle degeneration"], "types": ["T033"], "canonical_name": "Tibialis atrophy", "definition": "Atrophy of the tibialis muscle. [HPO:probinson]"} {"concept_id": "C4023376", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the dorsal column of the spinal cord", "definition": "An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus. [HPO:probinson]"} {"concept_id": "C4023377", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the cochlear nerve"} {"concept_id": "C4023378", "aliases": ["Absent/underdeveloped cochlea", "Absent/small cochlea"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the cochlea", "definition": "Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. [HPO:probinson]"} {"concept_id": "C4023379", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the vestibular nerve"} {"concept_id": "C4023380", "aliases": [], "types": ["T190"], "canonical_name": "Morphological abnormality of the nerves of the inner ear"} {"concept_id": "C4023381", "aliases": [], "types": ["T190"], "canonical_name": "Morphological abnormality of the inner ear", "definition": "A structural anomaly of the internal part of the ear. [HPO:probinson]"} {"concept_id": "C4023382", "aliases": ["Functional abnormality of the inner ear"], "types": ["T033"], "canonical_name": "Functional abnormality of the inner ear", "definition": "An abnormality of the function of the inner ear. [DDD:dfitzpatrick]"} {"concept_id": "C4023383", "aliases": [], "types": ["T033"], "canonical_name": "Narrow internal auditory canal", "definition": "Reduction in diameter of the internal auditory canal. [DDD:dfitzpatrick]"} {"concept_id": "C4023384", "aliases": [], "types": ["T190"], "canonical_name": "Absent internal auditory canal", "definition": "Aplasia of the internal auditory canal. [DDD:dfitzpatrick]"} {"concept_id": "C4023385", "aliases": ["Absent semicircular canal"], "types": ["T190"], "canonical_name": "Aplasia of the semicircular canal", "definition": "Absence of the semicircular canal. [DDD:dfitzpatrick]"} {"concept_id": "C4023386", "aliases": [], "types": ["T190"], "canonical_name": "Morphological abnormality of the semicircular canal", "definition": "An abnormality of the morphology of the semicircular canal. [DDD:dfitzpatrick]"} {"concept_id": "C4023387", "aliases": [], "types": ["T190"], "canonical_name": "Dilated vestibule of the inner ear", "definition": "Dilatation of the vestibule of the inner ear. [DDD:mbitner-glidicz]"} {"concept_id": "C4023388", "aliases": [], "types": ["T190"], "canonical_name": "Hypoplasia of the vestibule of the inner ear", "definition": "Underdevelopment of the vestibule of the inner ear. [DDD:mbitner-glidicz]"} {"concept_id": "C4023389", "aliases": ["Absent vestibule"], "types": ["T190"], "canonical_name": "Aplasia of the vestibule", "definition": "Complete absence of the vestibule of the inner ear. [DDD:dfitzpatrick]"} {"concept_id": "C4023390", "aliases": ["Absent cochlea"], "types": ["T019"], "canonical_name": "Cochlear aplasia", "definition": "Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. [HPO:dfitzpatrick]"} {"concept_id": "C4023391", "aliases": [], "types": ["T190"], "canonical_name": "Incomplete partition of the cochlea type I", "definition": "Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation. [DDD:mbitner-glidicz, PMID:21849370]"} {"concept_id": "C4023392", "aliases": [], "types": ["T190"], "canonical_name": "Incomplete partition of the cochlea", "definition": "Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema. [HPO:probinson]"} {"concept_id": "C4023393", "aliases": ["Recurrent viral skin infections"], "types": ["T033"], "canonical_name": "Recurrent viral skin infections", "definition": "Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections. []"} {"concept_id": "C4023394", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent cutaneous fungal infections", "definition": "Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections. []"} {"concept_id": "C4023395", "aliases": [], "types": ["T033"], "canonical_name": "Patchy hypopigmentation of hair", "definition": "Reduced pigmentation of hair in patches. [DDD:cmoss]"} {"concept_id": "C4023396", "aliases": ["Abnormality of hair growth rate", "Abnormality of pace of hair growth", "Abnormality of speed of hair growth"], "types": ["T033"], "canonical_name": "Abnormality of hair growth rate", "definition": "Hair whose growth rate deviates from the norm. [DDD:cmoss]"} {"concept_id": "C4023397", "aliases": ["Abnormal hair quantity", "Abnormality of hair density"], "types": ["T190"], "canonical_name": "Abnormal hair quantity", "definition": "An abnormal amount of hair. [DDD:cmoss]"} {"concept_id": "C4023398", "aliases": ["Abnormal hair pattern since birth"], "types": ["T019"], "canonical_name": "Congenital abnormal hair pattern", "definition": "A congenital abnormality of the distribution of hair growth. [DDD:cmoss]"} {"concept_id": "C4023399", "aliases": ["Acquired abnormal hair pattern"], "types": ["T190"], "canonical_name": "Acquired abnormal hair pattern", "definition": "An abnormality of the distribution of hair growth that is acquired during the course of life. [DDD:cmoss]"} {"concept_id": "C4023400", "aliases": ["Generalised hypopigmentation of hair"], "types": ["T047"], "canonical_name": "Generalized hypopigmentation of hair", "definition": "Reduced pigmentation of hair diffusely. [DDD:cmoss]"} {"concept_id": "C4023402", "aliases": [], "types": ["T190"], "canonical_name": "Regional abnormality of skin", "definition": "An abnormality of the skin that is restricted to a particular body region. [DDD:cmoss]"} {"concept_id": "C4023403", "aliases": [], "types": ["T047"], "canonical_name": "Arterial intimal fibrosis", "definition": "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries. [HPO:probinson]"} {"concept_id": "C4023404", "aliases": ["Abnormal abducens nerve morphology", "Abnormality of the sixth cranial nerve"], "types": ["T190"], "canonical_name": "Abnormal sixth cranial nerve morphology", "definition": "Any structural abnormality of the abducens nerve. [HPO:probinson]"} {"concept_id": "C4023405", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of ocular abduction", "definition": "An abnormality involving the movement of the eye outwards. [HPO:probinson]"} {"concept_id": "C4023406", "aliases": ["Malformation of the upper lip vermillion", "Anomaly of the upper lip vermillion", "Deformity of the upper lip vermillion", "Abnormality of the red part of the upper lip"], "types": ["T190"], "canonical_name": "Abnormality of upper lip vermillion", "definition": "An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. [HPO:probinson]"} {"concept_id": "C4023407", "aliases": ["Unusual mouth shape", "Anomaly of mouth shape", "Abnormality of mouth shape"], "types": ["T190"], "canonical_name": "Abnormality of mouth shape", "definition": "An abnormality of the outline, configuration, or contour of the mouth. [DDD:jhurst]"} {"concept_id": "C4023408", "aliases": ["Anomaly of mouth size", "Abnormality of mouth size"], "types": ["T190"], "canonical_name": "Abnormality of mouth size"} {"concept_id": "C4023409", "aliases": ["Bitemporal forceps marks", "Bitemporal aplasia cutis congenita", "Congenital, bilateral, scarlike facial lesions"], "types": ["T033"], "definition": "Bilateral temporal scarlike defects, which are said to resemble forceps marks. [DDD:jclayton-smith, PMID:1401310]", "canonical_name": "Congenital ectodermal dysplasia of the face"} {"concept_id": "C4023411", "aliases": ["Decreased size of one side of the face", "Decreased size of half of the face", "Decrease in size of one side of the face", "Shrinking of one side of the face", "Shrinking of half of face", "Decrease in size of half of face"], "types": ["T047"], "canonical_name": "Hemifacial hypoplasia", "definition": "Unilateral underdevelopment of the facial tissues, including muscles and bones. [DDD:awilkie]"} {"concept_id": "C4023412", "aliases": ["Abnormality of cranial sutures", "Abnormality of the skull suture", "Abnormality of the cranial sutures", "Abnormality of the calvarium sutures", "Abnormality of the bregma sutures"], "types": ["T190"], "canonical_name": "Abnormality of cranial sutures", "definition": "Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. [HPO:probinson]"} {"concept_id": "C4023413", "aliases": ["Frontal plagiocephaly", "Anterior flat head syndrome", "Positional anterior plagiocephaly", "Deformational frontal plagiocephaly"], "types": ["T033"], "canonical_name": "Anterior plagiocephaly", "definition": "Asymmetry of the anterior part of the skull. [DDD:awilkie]"} {"concept_id": "C4023414", "aliases": [], "types": ["T190"], "canonical_name": "Right unilambdoid synostosis", "definition": "Premature synostosis of only the right lambdoid suture. [DDD:awilkie]"} {"concept_id": "C4023415", "aliases": [], "types": ["T190"], "canonical_name": "Left unilambdoid synostosis", "definition": "Premature synostosis of only the left lambdoid suture. [DDD:awilkie]"} {"concept_id": "C4023416", "aliases": [], "types": ["T190"], "canonical_name": "Right unicoronal synostosis", "definition": "Unicoronal synostosis affecting only the right coronal suture. [DDD:awilkie]"} {"concept_id": "C4023417", "aliases": [], "types": ["T190"], "canonical_name": "Left unicoronal synostosis", "definition": "Synostosis affecting only the left coronal suture. [DDD:awilkie]"} {"concept_id": "C4023418", "aliases": ["Unilateral coronal suture craniosynostosis", "Unilateral coronal suture synostosis"], "types": ["T190"], "canonical_name": "Unicoronal synostosis", "definition": "Synostosis affecting only one of the coronal sutures. [DDD:awilkie]"} {"concept_id": "C4023419", "aliases": ["Fused nails"], "types": ["T033"], "canonical_name": "Fused nails", "definition": "A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature. [PMID:19125433]"} {"concept_id": "C4023420", "aliases": [], "types": ["T190"], "canonical_name": "Sydney crease", "definition": "Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm. [PMID:19125433]"} {"concept_id": "C4023421", "aliases": [], "types": ["T033"], "canonical_name": "Convex contour of sole", "definition": "The contour of the foot in lateral profile has a convex shape. [PMID:19125433]"} {"concept_id": "C4023422", "aliases": ["Long palm"], "types": ["T033"], "canonical_name": "Long palm", "definition": "For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length. [PMID:19125433]"} {"concept_id": "C4023423", "aliases": ["Partial absence of finger"], "types": ["T033"], "canonical_name": "Partial absence of finger", "definition": "The absence of a phalangeal segment of a finger. [PMID:19125433]"} {"concept_id": "C4023424", "aliases": ["Prominent digit pad"], "types": ["T190"], "canonical_name": "Prominent digit pad", "definition": "A soft tissue prominence of the ventral aspects of the fingertips or toe tips. [PMID:19125433]"} {"concept_id": "C4023425", "aliases": [], "types": ["T033"], "canonical_name": "EEG with central sharp slow waves", "definition": "EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]"} {"concept_id": "C4023426", "aliases": [], "types": ["T033"], "canonical_name": "EEG with frontal sharp slow waves", "definition": "EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]"} {"concept_id": "C4023427", "aliases": [], "types": ["T033"], "canonical_name": "EEG with temporal sharp slow waves", "definition": "EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]"} {"concept_id": "C4023428", "aliases": [], "types": ["T033"], "canonical_name": "EEG with parietal sharp slow waves", "definition": "EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]"} {"concept_id": "C4023429", "aliases": [], "types": ["T033"], "canonical_name": "EEG with occipital sharp slow waves", "definition": "EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]"} {"concept_id": "C4023430", "aliases": [], "types": ["T019"], "canonical_name": "Long-segment aganglionic megacolon", "definition": "A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid. [HPO:probinson]"} {"concept_id": "C4023431", "aliases": [], "types": ["T019"], "canonical_name": "Short-segment aganglionic megacolon", "definition": "A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid. [HPO:probinson, PMID:17965226]"} {"concept_id": "C4023432", "aliases": ["Abnormality of the metencephalon"], "types": ["T190"], "canonical_name": "Abnormal metencephalon morphology", "definition": "An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. [HPO:probinson]"} {"concept_id": "C4023434", "aliases": ["Abnormality of urine Ca2+ concentration", "Abnormality of urine Ca concentration"], "types": ["T033"], "canonical_name": "Abnormality of urine calcium concentration", "definition": "An abnormality of calcium concentration in the urine. [HPO:probinson]"} {"concept_id": "C4023435", "aliases": ["Abnormality of urine HCO3 concentration"], "types": ["T033"], "canonical_name": "Abnormality of urine bicarbonate level", "definition": "An abnormal amount of hydrogencarbonate in the urine. [HPO:probinson]"} {"concept_id": "C4023436", "aliases": [], "types": ["T019"], "canonical_name": "Intrapulmonary sequestration", "definition": "A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree. [HPO:probinson]"} {"concept_id": "C4023437", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of the urinary system physiology"} {"concept_id": "C4023438", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent mycobacterial infections", "definition": "Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection. [HPO:probinson]"} {"concept_id": "C4023439", "aliases": [], "types": ["T190"], "canonical_name": "Absent tragus", "definition": "Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix. [PMID:19152421]"} {"concept_id": "C4023440", "aliases": ["Cleft earlobe"], "types": ["T190"], "canonical_name": "Cleft earlobe", "definition": "Discontinuity in the convexity of the inferior margin of the lobe. [PMID:19152421]"} {"concept_id": "C4023441", "aliases": ["Type 2 cryptotia"], "types": ["T190"], "canonical_name": "Type II cryptotia", "definition": "A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected. [HPO:probinson]"} {"concept_id": "C4023442", "aliases": ["Type 1 cryptotia"], "types": ["T047"], "canonical_name": "Type I cryptotia", "definition": "A type of cryptotia associated with reduction in size of the antihelix and superior crus. [HPO:probinson]"} {"concept_id": "C4023443", "aliases": [], "types": ["T019"], "canonical_name": "Absent antitragus", "definition": "Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. [PMID:19152421]"} {"concept_id": "C4023444", "aliases": [], "types": ["T190"], "canonical_name": "Everted antitragus", "definition": "Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear). [PMID:19152421]"} {"concept_id": "C4023445", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of stem of antihelix", "definition": "An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura. [HPO:probinson]"} {"concept_id": "C4023446", "aliases": [], "types": ["T190"], "canonical_name": "Angulated antihelix", "definition": "Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc. [PMID:19152421]"} {"concept_id": "C4023447", "aliases": [], "types": ["T190"], "canonical_name": "Additional crus of antihelix", "definition": "Supernumerary ridge or crus of the ear arising from the antihelix. [PMID:19152421]"} {"concept_id": "C4023448", "aliases": [], "types": ["T190"], "canonical_name": "Absent antihelix", "definition": "No discernible ridge between concha and triangular fossa and helix. [HPO:19152421]"} {"concept_id": "C4023449", "aliases": ["Infraorbital fold"], "types": ["T033"], "canonical_name": "Infra-orbital fold", "definition": "Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge. [PMID:19125427]"} {"concept_id": "C4023450", "aliases": ["Prominent eyelashes"], "types": ["T033"], "canonical_name": "Prominent eyelashes", "definition": "Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly. [PMID:19125427]"} {"concept_id": "C4023451", "aliases": ["Laterally extended eyebrows", "Laterally elongated eyebrow", "Increased lateral length of eyebrow"], "types": ["T033"], "canonical_name": "Laterally extended eyebrow", "definition": "An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location. [PMID:19125427]"} {"concept_id": "C4023452", "aliases": ["Elevated C-reactive protein level"], "types": ["T033"], "canonical_name": "Elevated circulating C-reactive protein concentration", "definition": "An abnormal elevation of the C-reactive protein level in the blood circulation. [HPO:probinson, PMID:28722873]"} {"concept_id": "C4023453", "aliases": ["Failure of development of eyelid", "Hypotrophic eyelid"], "types": ["T019"], "canonical_name": "Aplasia/Hypoplasia of the eyelid", "definition": "Absence or underdevelopment of the eyelid. [HPO:probinson]"} {"concept_id": "C4023454", "aliases": ["Depression of frontal cranial suture", "Frontal suture depression", "Depression of metopic cranial suture"], "types": ["T190"], "canonical_name": "Metopic depression", "definition": "Linear vertical groove in the midline of the forehead, extending from hairline to glabella. [PMID:19125436]"} {"concept_id": "C4023455", "aliases": ["Flat area between the eyebrows", "Concave glabella", "Deficient area between the eyebrows", "Deficiency of glabella", "Hypoplasia of glabella", "Flat glabella"], "types": ["T190"], "canonical_name": "Depressed glabella", "definition": "Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges. [HPO:probinson, PMID:19125436]"} {"concept_id": "C4023456", "aliases": ["Vertical forehead wrinkles", "Frontal creases of face", "Vertical forehead rhytids", "Vertical forehead creases"], "types": ["T190"], "canonical_name": "Vertical forehead creases", "definition": "Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest. [PMID:19125436]"} {"concept_id": "C4023457", "aliases": ["Vertical facial insufficiency", "Short face", "Decreased height of face", "Decreased vertical dimension of face", "Decreased length of face", "Vertical deficiency of face", "Vertical hypoplasia of face", "Vertical Facial Deficiency", "Vertical shortening of face", "Vertical insufficiency of face", "Short facies"], "types": ["T190"], "canonical_name": "Short face", "definition": "Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective). [PMID:19125436]"} {"concept_id": "C4023458", "aliases": ["Dysmorphic forehead", "Abnormal shape of the forehead", "Abnormal morphology of the frontal region", "Dysmorphic frontal region"], "types": ["T190"], "canonical_name": "Abnormal shape of the frontal region", "definition": "An abnormal shape of the frontal part of the head. [HPO:probinson]"} {"concept_id": "C4023459", "aliases": ["Abnormal shape of posterior skull", "Abnormal shape of posterior cranium", "Abnormal shape of the back of the head", "Abnormal shape of posterior head", "Abnormal shape of the back of the skull"], "types": ["T190"], "canonical_name": "Abnormal shape of the occiput", "definition": "An abnormal shape of occiput. [HPO:probinson]"} {"concept_id": "C4023460", "aliases": [], "types": ["T033"], "canonical_name": "Hemihypsarrhythmia", "definition": "Hypsarrhythmia occurring in one hemisphere. [HPO:jalbers]"} {"concept_id": "C4023461", "aliases": [], "types": ["T033"], "canonical_name": "EEG with photoparoxysmal response grade IV", "definition": "Occurrence of generalized epileptiform discharges during photic stimulation. [HPO:jalbers]"} {"concept_id": "C4023462", "aliases": [], "types": ["T033"], "canonical_name": "EEG with photoparoxysmal response grade III", "definition": "Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation. [HPO:jalbers]"} {"concept_id": "C4023463", "aliases": [], "types": ["T033"], "canonical_name": "EEG with photoparoxysmal response grade II", "definition": "Occurence of epileptiform discharges in occipital and central regions during photic stimulation. [HPO:jalbers]"} {"concept_id": "C4023464", "aliases": [], "types": ["T033"], "canonical_name": "EEG with photoparoxysmal response grade I", "definition": "Occurrence of epileptiform discharges in occipital regions during photic stimulation. [HPO:jalbers]"} {"concept_id": "C4023465", "aliases": [], "types": ["T033"], "canonical_name": "EEG with occipital slowing", "definition": "Slowing in occipital areas of the scalp EEG. [HPO:jalbers]"} {"concept_id": "C4023466", "aliases": ["EEG with generalised slow activity grade 3"], "types": ["T033"], "canonical_name": "EEG with generalized slow activity grade 3", "definition": "Generalized slowing of EEG activity at frequencies between 0.5-3 Hz. [HPO:jalbers]"} {"concept_id": "C4023467", "aliases": ["EEG with generalised slow activity grade 2"], "types": ["T033"], "canonical_name": "EEG with generalized slow activity grade 2", "definition": "Generalized slowing of EEG activity at frequencies between 4-7 Hz. [HPO:jalbers]"} {"concept_id": "C4023468", "aliases": ["EEG with generalised slow activity grade 1"], "types": ["T033"], "canonical_name": "EEG with generalized slow activity grade 1", "definition": "Slowing at frequencies between 7.5 and 8.5 Hz. [HPO:jalbers]"} {"concept_id": "C4023469", "aliases": [], "types": ["T033"], "canonical_name": "EEG with intermittent slow activity", "definition": "Non-continuous diffuse slowing of electroencephalographic patterns. [HPO:jalbers]"} {"concept_id": "C4023470", "aliases": [], "types": ["T033"], "canonical_name": "EEG with continuous slow activity", "definition": "EEG showing diffuse slowing without interruption. [HPO:jalbers]"} {"concept_id": "C4023471", "aliases": [], "types": ["T046"], "canonical_name": "EEG with abnormally slow frequencies", "definition": "EEG with abnormally slow frequencies. [HPO:jalbers]"} {"concept_id": "C4023472", "aliases": [], "types": ["T033"], "canonical_name": "EEG with diffuse acceleration", "definition": "EEG frequency is abnormally increased. [HPO:probinson]"} {"concept_id": "C4023473", "aliases": [], "types": ["T033"], "canonical_name": "EEG with changes in voltage", "definition": "EEG with abnormal amplitude. [HPO:jalbers]"} {"concept_id": "C4023474", "aliases": ["EEG with generalised polymorphic epileptiform discharges"], "types": ["T033"], "canonical_name": "EEG with generalized polymorphic epileptiform discharges", "definition": "Generalized epileptiform discharges of different shapes and frequencies. [HPO:jalbers]"} {"concept_id": "C4023475", "aliases": ["EEG with generalised sharp slow waves"], "types": ["T033"], "canonical_name": "EEG with generalized sharp slow waves", "definition": "EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]"} {"concept_id": "C4023476", "aliases": ["EEG with generalised epileptiform discharges"], "types": ["T033"], "canonical_name": "EEG with generalized epileptiform discharges", "definition": "EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. [HPO:jalbers]"} {"concept_id": "C4023477", "aliases": [], "types": ["T033"], "canonical_name": "EEG with focal spike waves", "definition": "EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. [HPO:jalbers]"} {"concept_id": "C4023478", "aliases": [], "types": ["T033"], "canonical_name": "EEG with focal sharp waves", "definition": "EEG with focal sharp transient waves of a duration between 80 and 200 msec. [HPO:jalbers]"} {"concept_id": "C4023479", "aliases": [], "types": ["T033"], "canonical_name": "EEG with focal sharp slow waves", "definition": "EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]"} {"concept_id": "C4023480", "aliases": [], "types": ["T033"], "canonical_name": "EEG with series of focal spikes", "definition": "Focal spikes occurring for several seconds. [HPO:jalbers]"} {"concept_id": "C4023481", "aliases": [], "types": ["T033"], "canonical_name": "EEG with focal spikes", "definition": "EEG with focal sharp transient waves of a duration less than 80 msec. [HPO:jalbers]"} {"concept_id": "C4023482", "aliases": [], "types": ["T033"], "canonical_name": "Polymorphic focal epileptiform discharges", "definition": "Focal epileptiform discharges of different shapes and frequencies. [HPO:jalbers]"} {"concept_id": "C4023483", "aliases": [], "types": ["T033"], "canonical_name": "Unilateral multifocal epileptiform discharges", "definition": "Epileptiform discharges being identified at multiple locations in one hemisphere. [HPO:jalbers]"} {"concept_id": "C4023484", "aliases": [], "types": ["T033"], "canonical_name": "Uni- and bilateral multifocal epileptiform discharges", "definition": "Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere. [HPO:jalbers]"} {"concept_id": "C4023485", "aliases": [], "types": ["T033"], "canonical_name": "Bilateral multifocal epileptiform discharges", "definition": "Epileptiform discharges being identified at multiple locations in both hemispheres. [HPO:jalbers]"} {"concept_id": "C4023486", "aliases": ["Focal EEG discharges with secondary generalisation"], "types": ["T033"], "canonical_name": "Focal EEG discharges with secondary generalization", "definition": "Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp. [HPO:jalbers]"} {"concept_id": "C4023487", "aliases": [], "types": ["T033"], "canonical_name": "Focal EEG discharges with propagation to ipsilateral hemisphere", "definition": "Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain. [HPO:jalbers]"} {"concept_id": "C4023488", "aliases": [], "types": ["T033"], "canonical_name": "Focal epileptiform discharges with limited propagation to contralateral hemisphere", "definition": "Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization. [HPO:jalbers]"} {"concept_id": "C4023489", "aliases": ["EEG with hyperventilation-induced generalised epileptiform discharges"], "types": ["T033"], "canonical_name": "EEG with hyperventilation-induced generalized epileptiform discharges", "definition": "Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:jalbers]"} {"concept_id": "C4023490", "aliases": [], "types": ["T033"], "canonical_name": "EEG with hyperventilation-induced focal epileptiform discharges", "definition": "Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:jalbers]"} {"concept_id": "C4023491", "aliases": ["Epileptiform EEG discharges"], "types": ["T033"], "canonical_name": "Interictal epileptiform activity", "definition": "Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. [HPO:probinson]"} {"concept_id": "C4023492", "aliases": [], "types": ["T033"], "canonical_name": "Partial beta-EEG", "definition": "EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz). [HPO:jalbers]"} {"concept_id": "C4023493", "aliases": ["Beta wave electroencephalography"], "types": ["T033"], "canonical_name": "Beta-EEG", "definition": "EEG dominated by diffuse beta-waves (>13 Hz). [HPO:jalbers]"} {"concept_id": "C4023494", "aliases": [], "types": ["T033"], "canonical_name": "Alpha-EEG", "definition": "EEG dominated by diffuse alpha-waves (8-13Hz). [HPO:jalbers]"} {"concept_id": "C4023495", "aliases": [], "types": ["T033"], "canonical_name": "EEG with 4-5/second background activity", "definition": "EEG background activity at 4-5/second. [HPO:jalbers]"} {"concept_id": "C4023496", "aliases": [], "types": ["T033"], "canonical_name": "EEG with constitutional variants", "definition": "An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic. [HPO:jalbers]"} {"concept_id": "C4023497", "aliases": ["Partial hyperkinetic seizure", "Segmental hyperkinetic seizure", "Localised hyperkinetic seizure", "Hyperkinetic seizures", "Localized hyperkinetic seizure"], "types": ["T047"], "canonical_name": "Focal hyperkinetic seizure", "definition": "A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements. [HPO:jalbers, PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C4023498", "aliases": ["Localized seizure with behavioral arrest", "Partial hypokinetic seizure", "Hypokinetic seizures", "Partial seizure with behaviour arrest", "Hypokinetic seizure", "Focal behaviour arrest seizure", "Focal hypokinetic seizure", "Localised seizure with behavioural arrest", "Partial seizure with behavior arrest"], "types": ["T047"], "canonical_name": "Focal behavior arrest seizure", "definition": "A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure. [HPO:jalbers, PMID:28276060]"} {"concept_id": "C4023499", "aliases": ["Generalised onset clonic seizure", "Generalized onset clonic seizure", "Generalised clonic seizure", "Generalised clonic seizures", "Generalised-onset clonic seizure", "Generalized-onset clonic seizure", "Generalized clonic seizures"], "types": ["T047"], "canonical_name": "Generalized clonic seizure", "definition": "Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. [HPO:jalbers, PMID:28276060, PMID:28276064]"} {"concept_id": "C4023501", "aliases": ["Localized myoclonic seizure", "Partial myoclonic seizure", "Partial myoclonic seizures", "Local myoclonic seizures", "Segmental myoclonic seizures", "Segmental myoclonic seizure", "Localised myoclonic seizure", "Focal myoclonic seizures"], "types": ["T047"], "canonical_name": "Focal myoclonic seizure", "definition": "A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C4023502", "aliases": ["Somatosensory auras", "Partial somatosensory seizure", "Somatosensory aura", "Focal somatosensory seizure"], "types": ["T033"], "canonical_name": "Focal sensory seizure with somatosensory features", "definition": "A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation. [HPO:jalbers, PMID:28276060]"} {"concept_id": "C4023506", "aliases": ["Localised seizure with epigastric sensation", "Visceral aura", "Epigastric auras", "Partial seizure with epigastric sensation", "Epigastric aura", "Abdominal aura", "Localized seizure with epigastric sensation"], "types": ["T047"], "canonical_name": "Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena", "definition": "A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. [HPO:jalbers, PMID:28276060]"} {"concept_id": "C4023509", "aliases": ["Focal autonomic seizures"], "types": ["T047"], "canonical_name": "Focal autonomic seizure", "definition": "An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature. [HPO:jalbers, PMID:28276060, PMID:28276064]"} {"concept_id": "C4023510", "aliases": ["Early onset petit mal seizures"], "types": ["T047"], "canonical_name": "Early onset absence seizures", "definition": "Typical absence seizures starting before the age of 4 years. [HPO:ihelbig]"} {"concept_id": "C4023511", "aliases": ["Obtundation status"], "types": ["T047"], "canonical_name": "Atypical absence status epilepticus", "definition": "Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. [HPO:jalbers]"} {"concept_id": "C4023512", "aliases": ["Myoclonic absences", "Myoclonic absence"], "types": ["T047"], "canonical_name": "Myoclonic absence seizure", "definition": "Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. [HPO:ihelbig, PMID:28276060, PMID:28276062, PMID:28276064, PMID:9637609]"} {"concept_id": "C4023515", "aliases": ["Unknown onset behavioral arrest seizure with impairment of awareness", "Behavioral arrest seizure with impairment of awareness irrespective of onset", "Unknown onset behavioural arrest seizure with impairment of awareness", "Behavioural arrest seizure with impairment of awareness irrespective of onset"], "types": ["T047"], "canonical_name": "Dialeptic seizure", "definition": "A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. [PMID:9738682]"} {"concept_id": "C4023516", "aliases": [], "types": ["T184"], "canonical_name": "Symptomatic seizures", "definition": "A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. [PMID:18184148]"} {"concept_id": "C4023517", "aliases": [], "types": ["T033"], "canonical_name": "Age-related posterior subcapsular cataract", "definition": "A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule. [HPO:probinson, PMID:15708105]"} {"concept_id": "C4023518", "aliases": ["Abnormal skin appendage"], "types": ["T190"], "canonical_name": "Abnormality of skin adnexa morphology", "definition": "An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. [HPO:probinson]"} {"concept_id": "C4023519", "aliases": ["Non-itchy hives"], "types": ["T047"], "canonical_name": "Non-pruritic urticaria", "definition": "Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus. [HPO:probinson]"} {"concept_id": "C4023520", "aliases": ["Absent/underdeveloped sweat glands", "Absent/small sweat glands"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the sweat glands", "definition": "Absence or developmental hypoplasia of the sweat glands. [HPO:probinson]"} {"concept_id": "C4023521", "aliases": [], "types": ["T047"], "canonical_name": "Chronic furunculosis", "definition": "A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. [HPO:probinson]"} {"concept_id": "C4023522", "aliases": ["Abnormality of renal calyx morphology"], "types": ["T190"], "canonical_name": "Abnormal renal calyx morphology", "definition": "Any abnormality of the morphology of the major calices or minor calices of the kidney. [HPO:probinson]"} {"concept_id": "C4023523", "aliases": ["Bilateral foetal pyelectasis", "Bilateral fetal pyelectasia", "Bilateral foetal pyelectasia"], "types": ["T047"], "canonical_name": "Bilateral fetal pyelectasis", "definition": "A bilateral form of fetal pyelectasis. [HPO:probinson]"} {"concept_id": "C4023524", "aliases": [], "types": ["T046"], "canonical_name": "Acute esophageal necrosis", "definition": "A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction. [HPO:probinson, PMID:17322991]"} {"concept_id": "C4023525", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of dermal melanosomes", "definition": "An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis). [HPO:probinson]"} {"concept_id": "C4023526", "aliases": ["Abnormality of epidermal morphology"], "types": ["T190"], "canonical_name": "Abnormal epidermal morphology", "definition": "An abnormality of the morphology of the epidermis. [HPO:probinson]"} {"concept_id": "C4023527", "aliases": ["Abnormality of skin physiology"], "types": ["T046"], "canonical_name": "Abnormality of skin physiology", "definition": "Any abnormality of the physiological function of the skin. [HPO:probinson]"} {"concept_id": "C4023528", "aliases": ["Abnormal skin morphology", "Abnormal skin structure"], "types": ["T190"], "canonical_name": "Abnormality of skin morphology", "definition": "Any morphological abnormality of the skin. [HPO:probinson]"} {"concept_id": "C4023529", "aliases": ["Abnormality of tumour necrosis factor secretion", "Abnormality of cachectin secretion", "Abnormality of cachexin secretion"], "types": ["T190"], "canonical_name": "Abnormality of tumor necrosis factor secretion", "definition": "An abnormality in the production or cellular release of tumor necrosis factor. []"} {"concept_id": "C4023530", "aliases": ["Abnormality of IL secretion"], "types": ["T190"], "canonical_name": "Abnormality of interleukin secretion", "definition": "An abnormality in the production or cellular release of interleukins (a class of cytokines). []"} {"concept_id": "C4023531", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of interferon secretion", "definition": "An abnormality in the production or cellular release of interferons (a class of cytokines). []"} {"concept_id": "C4023532", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of chemokine secretion", "definition": "An abnormality in the production or cellular release of a chemokine (a class of cytokines). []"} {"concept_id": "C4023533", "aliases": [], "types": ["T033"], "canonical_name": "Defective production of NFKB1-dependent cytokines", "definition": "An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha. [HPO:probinson]"} {"concept_id": "C4023534", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of cytokine secretion", "definition": "An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells). [HPO:probinson]"} {"concept_id": "C4023535", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of serum cytokine level", "definition": "Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. [HPO:probinson]"} {"concept_id": "C4023536", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of immune serum protein physiology", "definition": "An abnormality of the concentration or function of circulating immune proteins. [HPO:probinson]"} {"concept_id": "C4023537", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of blood volume homeostasis", "definition": "An abnormality in the amount of volume occupied by intravascular blood. [HPO:probinson]"} {"concept_id": "C4023539", "aliases": ["Dentinogenesis imperfecta of both sets of teeth", "Dentinogenesis imperfecta of adult and baby teeth"], "types": ["T019"], "canonical_name": "Dentinogenesis imperfecta of primary and permanent teeth", "definition": "Developmental dysplasia of dentin or both the primary dentition and the permanent dentition. [HPO:ibailleulforestier]"} {"concept_id": "C4023540", "aliases": ["Immature tooth enamel"], "types": ["T033"], "canonical_name": "Hypomature dental enamel", "definition": "A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. [HPO:ibailleulforestier]"} {"concept_id": "C4023541", "aliases": ["Poorly calcified tooth enamel", "Decreased enamel calcification"], "types": ["T047"], "canonical_name": "Hypocalcification of dental enamel", "definition": "A form of hypomineralization of enamel characterized by reduced calcification. [PMID:18499550]"} {"concept_id": "C4023542", "aliases": ["Pointed maxillary incisor", "Cone shaped maxillary incisor", "Cone shaped upper front tooth", "Conoid maxillary incisor", "Pointed upper front tooth", "Peg shaped upper front tooth", "Upper front shark tooth"], "types": ["T033"], "canonical_name": "Conical maxillary incisor", "definition": "An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both. [HPO:ibailleulforestier]"} {"concept_id": "C4023543", "aliases": ["Peg shaped primary incisor", "Conoid primary incisor", "Primary front shark tooth", "Peg shaped front baby tooth", "Conical deciduous incisor", "Pointed front baby tooth", "Pointed primary incisor", "Cone shaped front baby tooth"], "types": ["T033"], "canonical_name": "Conical primary incisor", "definition": "An abnormal conical morphology of the primary incisor. [HPO:ibailleulforestier]"} {"concept_id": "C4023544", "aliases": ["Increased width of incisor", "Hypertrophy of incisor", "Increased size of incisor", "Large incisor"], "types": ["T033"], "canonical_name": "Incisor macrodontia", "definition": "Increased size of the incisor tooth. [HPO:ibailleulforestier]"} {"concept_id": "C4023545", "aliases": ["Abnormality of bicuspid morphology", "Abnormality of shape of bicuspid", "Abnormality of premolar morphology", "Abnormality of shape of premolar"], "types": ["T190"], "canonical_name": "Abnormal premolar morphology", "definition": "An abnormality of morphology of premolar tooth. [HPO:ibailleulforestier]"} {"concept_id": "C4023546", "aliases": ["Abnormality of eye tooth", "Abnormality of canine"], "types": ["T190"], "canonical_name": "Abnormality of canine", "definition": "An abnormality of canine tooth. [HPO:ibailleulforestier]"} {"concept_id": "C4023547", "aliases": ["Abnormality of molar"], "types": ["T190"], "canonical_name": "Abnormality of molar", "definition": "An abnormality of molar tooth. [HPO:ibailleulforestier]"} {"concept_id": "C4023548", "aliases": ["Abnormality of premolar", "Abnormality of bicuspid"], "types": ["T190"], "canonical_name": "Abnormality of premolar", "definition": "An abnormality of premolar tooth. [HPO:ibailleulforestier]"} {"concept_id": "C4023549", "aliases": ["Green coloured teeth", "Green teeth", "Green tooth shade", "Green colored teeth"], "types": ["T033"], "canonical_name": "Green teeth", "definition": "A green staining of teeth. [PMID:12686928]"} {"concept_id": "C4023550", "aliases": ["Localized hypoplasia of tooth enamel", "Localised hypoplasia of tooth enamel", "Localised hypoplasia of dental enamel"], "types": ["T190"], "canonical_name": "Localized hypoplasia of dental enamel", "definition": "A localized form of developmental hypoplasia of the dental enamel. [HPO:ibailleulforestier]"} {"concept_id": "C4023551", "aliases": ["Abnormality of tooth colour", "Abnormality of tooth color", "Abnormality of dental shade", "Abnormality of dental color", "Abnormality of tooth shade", "Abnormality of dental colour"], "types": ["T033"], "canonical_name": "Abnormality of dental color", "definition": "A developmental defect of tooth color. [HPO:ibailleulforestier]"} {"concept_id": "C4023552", "aliases": ["Abnormality of shape of permanent molar", "Abnormality of shape of adult molar"], "types": ["T190"], "canonical_name": "Abnormality of permanent molar morphology", "definition": "An abnormality of morphology of permanent molar. [HPO:ibailleulforestier]"} {"concept_id": "C4023553", "aliases": ["Abnormal shape of molar tooth", "Abnormality of molar morphology"], "types": ["T190"], "canonical_name": "Abnormal molar morphology", "definition": "An abnormality of morphology of molar tooth. [HPO:ibailleulforestier]"} {"concept_id": "C4023554", "aliases": ["Abnormal number of incisors", "Abnormal number of front teeth"], "types": ["T190"], "canonical_name": "Abnormal number of incisors", "definition": "The presence of an altered number of the incisor teeth. [HPO:ibailleulforestier]"} {"concept_id": "C4023555", "aliases": ["Abnormality of shape of incisor", "Abnormality of incisor morphology"], "types": ["T190"], "canonical_name": "Abnormal incisor morphology", "definition": "An abnormality of morphology of the incisor tooth. [HPO:ibailleulforestier]"} {"concept_id": "C4023556", "aliases": ["Crooked front teeth", "Crooked incisors", "Misalignment of incisors", "Abnormality of alignment of incisors"], "types": ["T033"], "canonical_name": "Misalignment of incisors", "definition": "Misaligned incisor. [HPO:ibailleulforestier]"} {"concept_id": "C4023557", "aliases": ["Abnormality of tooth part", "Abnormality of tooth structure"], "types": ["T190"], "canonical_name": "Abnormality of dental structure", "definition": "An abnormality of the structure or composition of the teeth. [HPO:ibailleulforestier]"} {"concept_id": "C4023558", "aliases": ["Dentinogenesis imperfecta of baby teeth"], "types": ["T190"], "canonical_name": "Dentinogenesis imperfecta limited to primary teeth", "definition": "Developmental dysplasia of dentin affecting only the primary dentition. [HPO:ibailleulforestier]"} {"concept_id": "C4023559", "aliases": ["Localized periodontal disease", "Localised periodontal disease", "Localized periodontitis"], "types": ["T047"], "definition": "A localized form of periodontitis. [HPO:ibailleulforestier]", "canonical_name": "Localised periodontitis"} {"concept_id": "C4023560", "aliases": ["Generalised periodontitis", "Generalized periodontitis", "Generalised periodontal disease"], "types": ["T047"], "definition": "A generalized form of periodontitis. [HPO:ibailleulforestier]", "canonical_name": "Generalized periodontal disease"} {"concept_id": "C4023561", "aliases": ["Failure of development of second permanent molar", "Failure of development of twelve year molar", "Agenesis of twelve year molar"], "types": ["T019"], "canonical_name": "Agenesis of second permanent molar", "definition": "Agenesis of either mandibular second permanent molar or maxillary second permanent molar. [HPO:ibailleulforestier]"} {"concept_id": "C4023562", "aliases": ["Failure of development of first permanent molar", "Agenesis of six year molar", "Failure of development of six year molar"], "types": ["T190"], "canonical_name": "Agenesis of first permanent molar tooth", "definition": "Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both. [HPO:ibailleulforestier]"} {"concept_id": "C4023563", "aliases": ["Failure of development of permanent molar", "Agenesis of secondary molar", "Failure of development of secondary molar"], "types": ["T033"], "canonical_name": "Agenesis of permanent molar", "definition": "Agenesis of secondary molar tooth. [HPO:ibailleulforestier]"} {"concept_id": "C4023564", "aliases": ["Failure of development of mandibular premolar"], "types": ["T033"], "canonical_name": "Agenesis of mandibular premolar", "definition": "Agenesis of mandibular premolar. [HPO:ibailleulforestier]"} {"concept_id": "C4023565", "aliases": ["Failure of development of maxillary bicuspid", "Failure of development of maxillary premolar", "Agenesis of maxillary bicuspid"], "types": ["T190"], "canonical_name": "Agenesis of maxillary premolar", "definition": "Agenesis of maxillary premolar. [HPO:ibailleulforestier]"} {"concept_id": "C4023566", "aliases": ["Agenesis of bicuspid", "Failure of development of premolar", "Failure of development of bicuspid"], "types": ["T033"], "canonical_name": "Agenesis of premolar", "definition": "Agenesis of premolar tooth. [HPO:ibailleulforestier]"} {"concept_id": "C4023567", "aliases": ["Failure of development of permanent maxillary lateral incisor", "Agenesis of permanent upper lateral incisor", "Failure of development of permanent upper lateral incisor"], "types": ["T033"], "canonical_name": "Agenesis of permanent maxillary lateral incisor", "definition": "Agenesis of one or more upper lateral secondary incisor. [HPO:ibailleulforestier]"} {"concept_id": "C4023568", "aliases": ["Agenesis of deciduous maxillary lateral incisor", "Failure of development of deciduous maxillary lateral incisor", "Failure of development of primary maxillary lateral incisor"], "types": ["T190"], "canonical_name": "Agenesis of primary maxillary lateral incisor", "definition": "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor. [HPO:ibailleulforestier]"} {"concept_id": "C4023569", "aliases": ["Failure of development of permanent mandibular central incisor", "Agenesis of adult mandibular central incisor"], "types": ["T190"], "canonical_name": "Agenesis of permanent mandibular central incisor", "definition": "Agenesis of lower secondary incisor. [HPO:ibailleulforestier]"} {"concept_id": "C4023570", "aliases": ["Failure of development of deciduous mandibular central incisor", "Failure of development of primary mandibular central incisor", "Agenesis of deciduous lower central incisor", "Agenesis of primary lower central incisor"], "types": ["T190"], "canonical_name": "Agenesis of primary mandibular central incisor", "definition": "Agenesis of lower primary incisor. [HPO:ibailleulforestier]"} {"concept_id": "C4023571", "aliases": ["Failure of development of deciduous maxillary central incisor", "Failure of development of primary maxillary central incisor", "Agenesis of deciduous maxillary central incisor"], "types": ["T033"], "canonical_name": "Agenesis of primary maxillary central incisor", "definition": "Agenesis of upper central primary incisor. [HPO:ibailleulforestier]"} {"concept_id": "C4023572", "aliases": ["Failure of development of permanent maxillary central incisor", "Agenesis of adult maxillary central incisor"], "types": ["T019"], "canonical_name": "Agenesis of permanent maxillary central incisor", "definition": "Agenesis of upper secondary incisor. [HPO:ibailleulforestier]"} {"concept_id": "C4023573", "aliases": ["Abnormal number of permanent teeth", "Abnormal complement of permanent teeth", "Abnormal number of adult teeth", "Abnormal permanent tooth count", "Abnormal number of secondary dentition"], "types": ["T190"], "canonical_name": "Abnormal number of permanent teeth", "definition": "The presence of an altered number of of permanent teeth. [HPO:ibailleulforestier]"} {"concept_id": "C4023574", "aliases": ["Abnormality of circulating adrenocorticotropin level", "Abnormality of circulating ACTH level", "Abnormality of circulating corticotropin level"], "types": ["T033"], "canonical_name": "Abnormality of circulating adrenocorticotropin level", "definition": "An abnormal concentration of corticotropin in the blood. [HPO:probinson]"} {"concept_id": "C4023575", "aliases": ["Abnormal blood K concentration", "Abnormality of potassium homeostasis"], "types": ["T033"], "canonical_name": "Abnormal blood potassium concentration", "definition": "An abnormal concentration of potassium. [HPO:probinson]"} {"concept_id": "C4023576", "aliases": ["Absent/small cervical spine", "Absent/underdeveloped cervical spine"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the cervical spine", "definition": "Aplasia or developmental hypoplasia of the cervical vertebral column. [HPO:probinson]"} {"concept_id": "C4023577", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the intrahepatic bile duct", "definition": "An abnormality of the intrahepatic bile duct. [HPO:probinson]"} {"concept_id": "C4023578", "aliases": ["Abnormality of renal resorption"], "types": ["T046"], "canonical_name": "Abnormal renal resorption", "definition": "An abnormality of renal absorption. [HPO:probinson]"} {"concept_id": "C4023579", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of renal excretion", "definition": "An altered ability of the kidneys to void urine and/or specific substances. [HPO:probinson]"} {"concept_id": "C4023580", "aliases": ["Abnormality of renal cortex morphology"], "types": ["T190"], "canonical_name": "Abnormal renal cortex morphology", "definition": "An abnormality of the cortex of the kidney. [HPO:probinson]"} {"concept_id": "C4023581", "aliases": [], "types": ["T033"], "canonical_name": "Impairment of fructose metabolism", "definition": "An impairment of a fructose metabolic process. [HPO:probinson]"} {"concept_id": "C4023583", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of iron homeostasis", "definition": "An abnormality of the homeostasis (concentration) of iron cation. [HPO:probinson]"} {"concept_id": "C4023584", "aliases": ["Abnormality of transition element cation homeostasis"], "types": ["T033"], "canonical_name": "Abnormal blood transition element cation concentration", "definition": "An abnormality of the homeostasis (concentration) of transition element cation. [HPO:probinson]"} {"concept_id": "C4023585", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of blood circulation", "definition": "An abnormality of blood circulation. [HPO:probinson]"} {"concept_id": "C4023586", "aliases": ["Absent/small vagina", "Absent/underdeveloped vagina"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the vagina", "definition": "Aplasia or developmental hypoplasia of the vagina. [HPO:probinson]"} {"concept_id": "C4023587", "aliases": ["Abnormality of cardiovascular system physiology"], "types": ["T046"], "canonical_name": "Abnormal cardiovascular system physiology", "definition": "Abnormal functionality of the cardiovascular system. [HPO:probinson]"} {"concept_id": "C4023588", "aliases": ["Abnormality of the GI tract", "Abnormality of the gastrointestinal tract"], "types": ["T190"], "canonical_name": "Abnormality of the gastrointestinal tract", "definition": "An abnormality of the gastrointestinal tract. [HPO:probinson]"} {"concept_id": "C4023591", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of circulating enzyme level"} {"concept_id": "C4023592", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of mucopolysaccharide metabolism", "definition": "An abnormality of the metabolism of mucopolysaccharide. [HPO:probinson]"} {"concept_id": "C4023593", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of chromosome condensation", "definition": "An abnormality of chromosome condensation. [HPO:probinson]"} {"concept_id": "C4023594", "aliases": ["Abnormality of the cell cycle"], "types": ["T049"], "canonical_name": "Abnormality of the cell cycle", "definition": "An abnormality of the cell cycle. [HPO:probinson]"} {"concept_id": "C4023595", "aliases": ["Abnormality of cell physiology"], "types": ["T049"], "canonical_name": "Abnormal cellular physiology", "definition": "An abnormality in a cellular process. [HPO:probinson]"} {"concept_id": "C4023597", "aliases": ["Abnormality of blood glucose concentration"], "types": ["T033"], "canonical_name": "Abnormal blood glucose concentration", "definition": "An abnormality of the concentration of glucose in the blood. [HPO:probinson]"} {"concept_id": "C4023598", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal glucose homeostasis", "definition": "Abnormality of glucose homeostasis. [HPO:probinson]"} {"concept_id": "C4023601", "aliases": ["Abnormality of the musculature of the neck", "Neck muscle issue", "Abnormality of cervical musculature"], "types": ["T190"], "canonical_name": "Abnormal morphology of the musculature of the neck", "definition": "An abnormality of the neck musculature. [HPO:probinson]"} {"concept_id": "C4023602", "aliases": ["Absent/small optic tract", "Absent/underdeveloped optic tract"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the optic tract"} {"concept_id": "C4023603", "aliases": ["Absent optic tract"], "types": ["T190"], "canonical_name": "Aplasia of the optic tract"} {"concept_id": "C4023604", "aliases": [], "types": ["T049"], "canonical_name": "Increased susceptibility to spontaneous sister chromatid exchange", "definition": "An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells. [HPO:sdoelken]"} {"concept_id": "C4023607", "aliases": ["Abnormality of the striate nucleus", "Abnormality of the neostriatum", "Abnormality of the striatum"], "types": ["T190"], "canonical_name": "Abnormal corpus striatum morphology", "definition": "Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens. [HPO:probinson, PMID:21469956]"} {"concept_id": "C4023608", "aliases": ["Abnormality of the abdominal musculature"], "types": ["T190"], "canonical_name": "Abnormal morphology of the abdominal musculature", "definition": "An abnormality of the abdominal musculature. [HPO:probinson]"} {"concept_id": "C4023609", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the common coagulation pathway", "definition": "An abnormality of blood coagulation, common pathway. [HPO:probinson]"} {"concept_id": "C4023610", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the intrinsic pathway", "definition": "An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. [HPO:probinson]"} {"concept_id": "C4023611", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the extrinsic pathway", "definition": "An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. [HPO:probinson]"} {"concept_id": "C4023612", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal cellular immune system morphology", "definition": "An abnormality of the morphology or counts of the cells that make up the immune system. [HPO:probinson]"} {"concept_id": "C4023613", "aliases": [], "types": ["T045"], "canonical_name": "Gonosomal inheritance", "definition": "A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. [HPO:probinson]"} {"concept_id": "C4023614", "aliases": [], "types": ["T045"], "canonical_name": "Digenic inheritance", "definition": "A type of multifactorial inheritance governed by the simultaneous action of two gene loci. [HPO:probinson, ISBN:978-0192628961]"} {"concept_id": "C4023615", "aliases": ["Abnormality of the level of lipoprotein cholesterol"], "types": ["T033"], "canonical_name": "Abnormality of lipoprotein cholesterol concentration", "definition": "An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood. [HPO:probinson]"} {"concept_id": "C4023616", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of immune system physiology", "definition": "A functional abnormality of the immune system. [HPO:probinson, MP:0001790]"} {"concept_id": "C4023618", "aliases": ["Abnormality of myeloid leukocytes"], "types": ["T049"], "canonical_name": "Abnormal myeloid leukocyte morphology", "definition": "An abnormality of myeloid leukocytes. [HPO:probinson]"} {"concept_id": "C4023619", "aliases": [], "types": ["T190"], "canonical_name": "Absence of Lutheran antigen on erythrocytes", "definition": "Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. [HPO:probinson]"} {"concept_id": "C4023620", "aliases": [], "types": ["T190"], "canonical_name": "Blood group antigen abnormality", "definition": "An abnormality of an erythrocyte cell surface molecule. [HPO:probinson]"} {"concept_id": "C4023621", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of glycolipid metabolism", "definition": "An abnormality of glycolipid metabolism. [HPO:probinson]"} {"concept_id": "C4023622", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of liposaccharide metabolism", "definition": "An abnormality of liposaccharide metabolism. [HPO:probinson]"} {"concept_id": "C4023625", "aliases": ["Non-visualisation of the fetal stomach", "Absence of stomach bubble on foetal sonography", "Absent stomach bubble"], "types": ["T033"], "canonical_name": "Absence of stomach bubble on fetal sonography", "definition": "By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation. [HPO:probinson, PMID:20538709]"} {"concept_id": "C4023626", "aliases": [], "types": ["T019"], "canonical_name": "Extralobar sequestration", "definition": "A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura. [HPO:probinson, PMID:20610189]"} {"concept_id": "C4023627", "aliases": [], "types": ["T019"], "canonical_name": "Intralobar sequestration", "definition": "A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung. [HPO:probinson, PMID:20610189]"} {"concept_id": "C4023628", "aliases": ["Mild foetal ventriculomegaly"], "types": ["T190"], "canonical_name": "Mild fetal ventriculomegaly", "definition": "A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637). [HPO:probinson, PMID:16100637]"} {"concept_id": "C4023629", "aliases": ["Abnormality of the third ventricle"], "types": ["T190"], "canonical_name": "Abnormal third ventricle morphology", "definition": "An abnormality of the third ventricle. [HPO:probinson]"} {"concept_id": "C4023630", "aliases": ["Abnormality of the fourth ventricle"], "types": ["T190"], "canonical_name": "Abnormal fourth ventricle morphology", "definition": "An abnormality of the fourth ventricle. [HPO:probinson]"} {"concept_id": "C4023631", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of umbilical vein blood flow", "definition": "A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein. [HPO:probinson]"} {"concept_id": "C4023632", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of ductus venosus blood flow", "definition": "A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus. [HPO:probinson, PMID:16449256, PMID:21048453]"} {"concept_id": "C4023633", "aliases": ["Abnormality of the renal pelvis"], "types": ["T190"], "canonical_name": "Abnormal renal pelvis morphology", "definition": "An abnormality of the renal pelvis. [HPO:probinson]"} {"concept_id": "C4023634", "aliases": [], "types": ["T033"], "canonical_name": "Echogenic intracardiac focus", "definition": "A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart. [HPO:probinson, PMID:16100637, PMID:9527573]"} {"concept_id": "C4023635", "aliases": ["Lack of development of the nasal bone", "Failure of development of the nasal bone"], "types": ["T033"], "canonical_name": "Aplasia of the nasal bone", "definition": "Absence of the nasal bone. [HPO:probinson]"} {"concept_id": "C4023636", "aliases": [], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the nasal bone", "definition": "Absence or underdevelopment of the nasal bone. [HPO:probinson]"} {"concept_id": "C4023637", "aliases": ["Abnormality of the nasal bone", "Deformity of the nasal bones", "Malformation of the nasal bones", "Anomaly of the nasal bones"], "types": ["T190"], "canonical_name": "Abnormal nasal bone morphology", "definition": "An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. [HPO:probinson]"} {"concept_id": "C4023638", "aliases": ["Anomaly of the external nose", "Abnormality of the external nose"], "types": ["T190"], "canonical_name": "Abnormality of the external nose", "definition": "An abnormality of the external nose. [HPO:probinson]"} {"concept_id": "C4023639", "aliases": ["Abnormality of the nasal skeleton", "Malformation of the bones of the nose", "Anomaly of the nasal skeleton", "Malformation of the nasal skeleton", "Deformity of the bones of the nose", "Deformity of the nasal skeleton"], "types": ["T190"], "canonical_name": "Abnormality of the nasal skeleton", "definition": "An abnormality of the nasal skeleton. [HPO:probinson]"} {"concept_id": "C4023640", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the lower urinary tract", "definition": "An abnormality of the lower urinary tract. [HPO:probinson]"} {"concept_id": "C4023641", "aliases": ["Abnormality of the upper urinary tract"], "types": ["T190"], "canonical_name": "Abnormality of the upper urinary tract", "definition": "An abnormality of the upper urinary tract. [HPO:probinson]"} {"concept_id": "C4023643", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating nucleobase concentration", "definition": "An abnormality of a nucleobase metabolic process. [HPO:probinson]"} {"concept_id": "C4023644", "aliases": ["Abnormal circulating Na concentration", "Abnormal blood Na+ levels", "Abnormality of sodium homeostasis"], "types": ["T033"], "canonical_name": "Abnormal blood sodium concentration", "definition": "An abnormal concentration of sodium. [HPO:probinson]"} {"concept_id": "C4023645", "aliases": ["Abnormality of monovalent inorganic cation homeostasis"], "types": ["T033"], "canonical_name": "Abnormal blood monovalent inorganic cation concentration", "definition": "An abnormality of monovalent inorganic cation homeostasis. [HPO:probinson]"} {"concept_id": "C4023646", "aliases": ["Abnormality of cation homeostasis"], "types": ["T033"], "canonical_name": "Abnormal blood cation concentration", "definition": "An abnormality of cation homeostasis. [HPO:probinson]"} {"concept_id": "C4023648", "aliases": ["Abnormality of divalent inorganic cation homeostasis"], "types": ["T033"], "canonical_name": "Abnormal blood inorganic cation concentration", "definition": "An abnormality of divalent inorganic cation homeostasis. [HPO:probinson]"} {"concept_id": "C4023649", "aliases": [], "types": ["T047"], "canonical_name": "Nuclear punctate cataract"} {"concept_id": "C4023650", "aliases": [], "types": ["T033"], "canonical_name": "Posterior cortical cataract", "definition": "A cataract that affects the posterior part of the cortex of the lens. [HPO:probinson]"} {"concept_id": "C4023651", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating homocysteine concentration", "definition": "An abnormality of a homocysteine metabolic process. [HPO:probinson]"} {"concept_id": "C4023654", "aliases": ["Abnormality of alanine metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating alanine concentration", "definition": "An abnormality of an alanine metabolic process. [HPO:gcarletti]"} {"concept_id": "C4023655", "aliases": ["Abnormality of pyruvate family amino acid metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating pyruvate family amino acid concentration", "definition": "An abnormality of a pyruvate family amino acid metabolic process. [HPO:probinson]"} {"concept_id": "C4023656", "aliases": ["Abnormality of valine metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating valine concentration", "definition": "Any deviation from the normal circulation of valine in the blood circulation. [HPO:probinson]"} {"concept_id": "C4023657", "aliases": ["High blood isoleucine concentration"], "types": ["T047"], "canonical_name": "Hyperisoleucinemia", "definition": "An increased concentration of isoleucine in the blood. [HPO:gcarletti]"} {"concept_id": "C4023659", "aliases": ["Abnormality of arginine metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating arginine concentration", "definition": "Any deviation from the normal concentration of arginine in the blood circulation. [HPO:probinson]"} {"concept_id": "C4023660", "aliases": ["Abnormality of lysine metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating lysine concentration", "definition": "Any deviation from the normal concentration of lysine in the blood circulation. [HPO:gcarletti]"} {"concept_id": "C4023662", "aliases": ["Abnormality of histidine metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating histidine concentration", "definition": "An abnormality of a histidine metabolic process. [HPO:probinson]"} {"concept_id": "C4023665", "aliases": ["Abnormality of methionine metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating methionine concentration", "definition": "Any deviation from the normal concentration of methionine in the blood circulation. [HPO:probinson]"} {"concept_id": "C4023666", "aliases": ["Abnormality of threonine metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating threonine concentration", "definition": "Any deviation from the normal concentration of threonine in the blood circulation. [HPO:probinson]"} {"concept_id": "C4023669", "aliases": ["High urine sarcosine levels"], "types": ["T033"], "canonical_name": "Hypersarcosinuria", "definition": "An elevated urinary concentration of sarcosine. [HPO:gcarletti]"} {"concept_id": "C4023671", "aliases": ["Abnormality of serine family amino acid metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating serine family amino acid concentration", "definition": "Any deviation from the normal concentration of a serine family amino acid in the blood circulation. [HPO:probinson]"} {"concept_id": "C4023672", "aliases": ["Abnormality of phenylalanine metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating phenylalanine concentration", "definition": "Any deviation from the normal concentration of phenylalanine in the blood circulation. [HPO:probinson]"} {"concept_id": "C4023674", "aliases": [], "types": ["T047"], "canonical_name": "Morbus Koehler", "definition": "Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis. [HPO:sdoelken]"} {"concept_id": "C4023675", "aliases": [], "types": ["T019"], "canonical_name": "Acromelia", "definition": "Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. [HPO:probinson]"} {"concept_id": "C4023676", "aliases": [], "types": ["T033"], "canonical_name": "Increased nuchal translucency", "definition": "Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy). [HPO:probinson, PMID:12751779, PMID:15846173, PMID:28511453]"} {"concept_id": "C4023677", "aliases": [], "types": ["T190"], "canonical_name": "Postnatal cystic hygroma"} {"concept_id": "C4023678", "aliases": ["Unilateral strabismus"], "types": ["T033"], "canonical_name": "Monocular strabismus", "definition": "A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times. [HPO:probinson]"} {"concept_id": "C4023679", "aliases": ["Abnormal circulating protein level", "Abnormality of circulating protein level"], "types": ["T033"], "canonical_name": "Abnormal circulating protein concentration", "definition": "An abnormal level of a circulating protein in the blood. [HPO:probinson]"} {"concept_id": "C4023680", "aliases": [], "types": ["T047"], "canonical_name": "Ocular dyssynergia", "definition": "A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field. [HPO:probinson]"} {"concept_id": "C4023681", "aliases": [], "types": ["T033"], "canonical_name": "Delayed fine motor development", "definition": "A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. [HPO:probinson]"} {"concept_id": "C4023682", "aliases": [], "types": ["T033"], "canonical_name": "EEG with hyperventilation-induced epileptiform discharges", "definition": "Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:probinson]"} {"concept_id": "C4023683", "aliases": [], "types": ["T033"], "canonical_name": "EEG with spike-wave complexes", "definition": "Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:probinson]"} {"concept_id": "C4023684", "aliases": [], "types": ["T033"], "canonical_name": "EEG with spike-wave complexes (>3.5 Hz)", "definition": "The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG). [HPO:probinson]"} {"concept_id": "C4023685", "aliases": [], "types": ["T033"], "canonical_name": "EEG with spike-wave complexes (2.5-3.5 Hz)", "definition": "The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG). [HPO:probinson]"} {"concept_id": "C4023686", "aliases": ["Electroencephalogram demonstrated spike-slow wave discharges"], "types": ["T033"], "canonical_name": "EEG with spike-wave complexes (<2.5 Hz)", "definition": "The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG). [HPO:probinson]"} {"concept_id": "C4023687", "aliases": [], "types": ["T033"], "canonical_name": "EEG with multifocal slow activity", "definition": "Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:jalbers]"} {"concept_id": "C4023688", "aliases": ["Increased urinary copper concentration"], "types": ["T033"], "canonical_name": "Increased urinary copper concentration", "definition": "An increased concentration of copper in the urine. [HPO:probinson]"} {"concept_id": "C4023689", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating copper concentration", "definition": "An abnormal concentration of copper. [HPO:probinson]"} {"concept_id": "C4023690", "aliases": [], "types": ["T184"], "canonical_name": "Spontaneous pain sensation", "definition": "Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. [HPO:probinson]"} {"concept_id": "C4023691", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of pain sensation", "definition": "Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. [HPO:probinson]"} {"concept_id": "C4023692", "aliases": ["Cranial suture ridges"], "types": ["T033"], "canonical_name": "Ridged cranial sutures", "definition": "An overlap of the bony plates of the skull in an infant, with or without early closure. [HPO:probinson]"} {"concept_id": "C4023693", "aliases": ["Dacrystic seizure", "Dacrystic seizures"], "types": ["T047"], "canonical_name": "Focal emotional seizure with crying", "definition": "Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present. [HPO:probinson, PMID:28276060, PMID:993803]"} {"concept_id": "C4023694", "aliases": ["Abnormal position of hair whorl", "Abnormal location of hair swirl"], "types": ["T190"], "canonical_name": "Abnormal position of hair whorl", "definition": "Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull. [PMID:19125436]"} {"concept_id": "C4023695", "aliases": ["Abnormal number of hair whorls", "Double crown (hair whorls)", "Extra hair swirls", "Supernumary hair swirls", "Extra hair whorl", "Supernumary hair whorl", "Abnormal number of hair swirls"], "types": ["T033"], "canonical_name": "Abnormal number of hair whorls", "definition": "More than two clockwise hair whorls. [PMID:19125436]"} {"concept_id": "C4023696", "aliases": ["Thin uvula", "Narrow palatine uvula"], "types": ["T033"], "canonical_name": "Narrow uvula", "definition": "Decreased width of the uvula. [PMID:19125428]"} {"concept_id": "C4023697", "aliases": ["Long palatine uvula", "Elongated uvula"], "types": ["T033"], "canonical_name": "Long uvula", "definition": "Increased length of the uvula. [PMID:19125428]"} {"concept_id": "C4023698", "aliases": ["Everted upper lip", "Outward turned upper lip", "Everted prominent upper lip", "Eclabium of upper lip"], "types": ["T033"], "canonical_name": "Everted upper lip vermilion", "definition": "Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. [HPO:probinson, PMID:19125428]"} {"concept_id": "C4023699", "aliases": ["Increased pigmentation around the mouth", "Darkening of skin around the mouth"], "types": ["T033"], "canonical_name": "Perioral hyperpigmentation", "definition": "Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips. [PMID:19125428]"} {"concept_id": "C4023700", "aliases": [], "types": ["T191"], "canonical_name": "Cerebellar glioma", "definition": "A glioma affecting the cerebellum. [HPO:probinson]"} {"concept_id": "C4023701", "aliases": [], "types": ["T033"], "canonical_name": "Impaired visuospatial constructive cognition", "definition": "Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities). [HPO:sdoelken, PMID:10521286]"} {"concept_id": "C4023702", "aliases": [], "types": ["T033"], "canonical_name": "Hyoplasia of the Leydig cells", "definition": "Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. [HPO:probinson]"} {"concept_id": "C4023703", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the Leydig cells"} {"concept_id": "C4023704", "aliases": ["Shoulder dimples", "Bi-acromial dimples", "Acromial dimple"], "types": ["T033"], "canonical_name": "Shoulder dimple", "definition": "A subtype of skin dimples occurring in the shoulder region. [HPO:probinson, PMID:22679172]"} {"concept_id": "C4023705", "aliases": [], "types": ["T033"], "canonical_name": "Tracheomegaly", "definition": "Marked widening of the trachea. [HPO:probinson]"} {"concept_id": "C4023706", "aliases": [], "types": ["T190"], "canonical_name": "Bronchomegaly", "definition": "Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection. [HPO:probinson]"} {"concept_id": "C4023707", "aliases": [], "types": ["T033"], "canonical_name": "Tracheobronchmegaly", "definition": "Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection. [HPO:probinson]"} {"concept_id": "C4023709", "aliases": [], "types": ["T190"], "canonical_name": "Sacrococcygeal pilonidal abnormality", "definition": "The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds. [HPO:probinson]"} {"concept_id": "C4023710", "aliases": [], "types": ["T047"], "canonical_name": "Palmar hyperkeratosis", "definition": "Abnormal thickening of the skin localized to the palm of the hand. [HPO:probinson]"} {"concept_id": "C4023711", "aliases": ["Abnormality of the intermaxillary bone", "Abnormality of the premaxillary bone", "Abnormality of the primary palate bone", "Abnormality of the intermaxillary segment of the maxilla"], "types": ["T190"], "canonical_name": "Abnormality of the premaxilla", "definition": "An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate. [HPO:sdoelken, ORCID:0000-0001-5889-4463]"} {"concept_id": "C4023712", "aliases": ["Missing primary palate bone", "Absence of the primary palate bone", "Aplasia of the intermaxillary bone", "Failure of development of premaxilla", "Aplasia of the primary palate bone", "Absence of the premaxilla", "Failure of development of the primary palate bone", "Absence of the intermaxillary bone", "Missing premaxilla"], "types": ["T190"], "canonical_name": "Aplasia of the premaxilla", "definition": "Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla. [HPO:probinson]"} {"concept_id": "C4023713", "aliases": ["Aplasia/hypoplasia of the primary palate bone", "Aplasia/hypoplasia of the intermaxillary bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the premaxilla", "definition": "Absence or underdevelopment of the premaxilla. [HPO:probinson]"} {"concept_id": "C4023714", "aliases": ["Midline cleft of mandible"], "types": ["T190"], "canonical_name": "Midline defect of mandible"} {"concept_id": "C4023715", "aliases": ["Small toe bones"], "types": ["T190"], "canonical_name": "Hypoplasia of the phalanges of the toes"} {"concept_id": "C4023716", "aliases": ["Eyelid nodules"], "types": ["T033"], "canonical_name": "Nodular changes affecting the eyelids", "definition": "Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. [HPO:sdoelken]"} {"concept_id": "C4023717", "aliases": ["Extension of eyebrows towards upper eyelid"], "types": ["T033"], "canonical_name": "Extension of eyebrows towards upper eyelid", "definition": "The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid. [HPO:sdoelken]"} {"concept_id": "C4023718", "aliases": ["Absent retina"], "types": ["T033"], "canonical_name": "Aplasia of the retina", "definition": "A developmental defect characterized by absence of the retina. [HPO:probinson]"} {"concept_id": "C4023719", "aliases": [], "types": ["T047"], "canonical_name": "Spontaneous rupture of the globe", "definition": "Rupture of the eyeball not due to trauma. [HPO:probinson]"} {"concept_id": "C4023720", "aliases": [], "types": ["T047"], "canonical_name": "Cystic lesions of the pinnae"} {"concept_id": "C4023721", "aliases": ["Abnormal distribution of hair", "Abnormal hair pattern"], "types": ["T033"], "canonical_name": "Abnormal hair pattern", "definition": "An abnormality of the distribution of hair growth. [HPO:probinson]"} {"concept_id": "C4023722", "aliases": ["Abnormality of hair texture"], "types": ["T033"], "canonical_name": "Abnormality of hair texture", "definition": "An abnormality of the texture of the hair. [HPO:probinson]"} {"concept_id": "C4023723", "aliases": ["Webbed 3rd-5th toes"], "types": ["T190"], "canonical_name": "3-5 toe syndactyly", "definition": "Syndactyly with fusion of toes three to five. [HPO:sdoelken]"} {"concept_id": "C4023724", "aliases": ["Webbed 2nd-5th toes"], "types": ["T019"], "canonical_name": "2-5 toe syndactyly", "definition": "Syndactyly with fusion of toes two to five. [HPO:sdoelken]"} {"concept_id": "C4023725", "aliases": ["Webbed first through fourth toes"], "types": ["T019"], "canonical_name": "1-4 toe syndactyly", "definition": "Syndactyly with fusion of toes one to four. [HPO:sdoelken]"} {"concept_id": "C4023726", "aliases": ["Webbed 1st-2nd toes", "Webbed first and second toes"], "types": ["T019"], "canonical_name": "1-2 toe syndactyly", "definition": "Syndactyly with fusion of toes one and two. [HPO:sdoelken]"} {"concept_id": "C4023727", "aliases": ["Webbed third, fourth and fifth toes"], "types": ["T190"], "canonical_name": "3-5 finger syndactyly", "definition": "Syndactyly with fusion of fingers three to five. [HPO:sdoelken]"} {"concept_id": "C4023728", "aliases": ["Webbed 1-5 fingers", "Webbed 1st-5th fingers"], "types": ["T019"], "canonical_name": "1-5 finger syndactyly", "definition": "Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand). [HPO:sdoelken]"} {"concept_id": "C4023729", "aliases": ["Webbed 1st-4th finger"], "types": ["T019"], "canonical_name": "1-4 finger syndactyly", "definition": "Syndactyly with fusion of fingers one to four. [HPO:sdoelken]"} {"concept_id": "C4023730", "aliases": ["Webbed 1st-3rd finger"], "types": ["T019"], "canonical_name": "1-3 finger syndactyly", "definition": "Syndactyly with fusion of fingers one to three. [HPO:sdoelken]"} {"concept_id": "C4023731", "aliases": ["Webbed 4th-5th finger"], "types": ["T190"], "canonical_name": "4-5 finger syndactyly", "definition": "Syndactyly with fusion of fingers four and five. [HPO:sdoelken]"} {"concept_id": "C4023732", "aliases": ["Webbed thumb and index finger", "Webbed 1st-2nd finger"], "types": ["T190"], "canonical_name": "1-2 finger syndactyly", "definition": "Syndactyly with fusion of fingers one and two. [HPO:sdoelken]"} {"concept_id": "C4023733", "aliases": [], "types": ["T047"], "canonical_name": "Triangular nuclear cataract", "definition": "A nuclear cataract with a triangular form. [HPO:probinson, PMID:18483562]"} {"concept_id": "C4023734", "aliases": [], "types": ["T047"], "canonical_name": "Sutural cataract", "definition": "A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. [HPO:probinson]"} {"concept_id": "C4023735", "aliases": [], "types": ["T047"], "canonical_name": "Lamellar pulverulent cataract", "definition": "A Lamellar cataract with a pulverulent (punctate, dust-like\" opacities) appearance.\" [HPO:probinson]"} {"concept_id": "C4023736", "aliases": ["Webbed index, middle and pinkie finger", "Webbed index, middle and little finger", "Webbed 2nd-5th fingers", "Webbed index, middle and pinky finger"], "types": ["T190"], "canonical_name": "2-5 finger syndactyly", "definition": "Syndactyly with fusion of fingers two to five. [HPO:sdoelken]"} {"concept_id": "C4023737", "aliases": ["Low placental ALP"], "types": ["T033"], "canonical_name": "Low placental alkaline phosphatase", "definition": "An abnormally reduced level of alkaline phosphatase, placental type in the blood. [HPO:probinson]"} {"concept_id": "C4023738", "aliases": ["Low intestinal ALP"], "types": ["T033"], "canonical_name": "Low intestinal alkaline phosphatase", "definition": "An abnormally reduced level of alkaline phosphatase, intestinal type in the blood. [HPO:probinson]"} {"concept_id": "C4023739", "aliases": ["Low ALP of hepatic origin"], "types": ["T033"], "canonical_name": "Low alkaline phosphatase of hepatic origin", "definition": "An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood. [HPO:probinson]"} {"concept_id": "C4023740", "aliases": ["Low ALP of renal origin"], "types": ["T033"], "canonical_name": "Low alkaline phosphatase of renal origin", "definition": "An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. [HPO:probinson]"} {"concept_id": "C4023741", "aliases": ["Low ALP of bone origin"], "types": ["T033"], "canonical_name": "Low alkaline phosphatase of bone origin", "definition": "An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood. [HPO:probinson]"} {"concept_id": "C4023742", "aliases": ["Low tissue non-specific ALP"], "types": ["T033"], "canonical_name": "Low tissue non-specific alkaline phosphatase", "definition": "An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. [HPO:probinson]"} {"concept_id": "C4023743", "aliases": ["Elevated placental ALP"], "types": ["T033"], "canonical_name": "Elevated placental alkaline phosphatase", "definition": "An abnormally increased level of alkaline phosphatase, placental type in the blood. [HPO:probinson]"} {"concept_id": "C4023744", "aliases": ["Elevated intestinal ALP"], "types": ["T033"], "canonical_name": "Elevated intestinal alkaline phosphatase", "definition": "An abnormally increased level of alkaline phosphatase, intestinal type in the blood. [HPO:probinson]"} {"concept_id": "C4023745", "aliases": ["Elevated ALP of renal origin"], "types": ["T033"], "canonical_name": "Elevated alkaline phosphatase of renal origin", "definition": "An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. [HPO:probinson]"} {"concept_id": "C4023746", "aliases": [], "types": ["T047"], "canonical_name": "Enuresis diurna", "definition": "Enuresis occurring during waking hours of the day. [HPO:sdoelken]"} {"concept_id": "C4023747", "aliases": ["Curved spine", "Abnormality of the curvature of the vertebral column", "Curvature of spine", "Abnormal curve of the spine", "Abnormal curve of the backbone"], "types": ["T190"], "definition": "The presence of an abnormal curvature of the vertebral column. [HPO:probinson]", "canonical_name": "Abnormal curving of the spine"} {"concept_id": "C4023748", "aliases": ["Abnormality of the 3rd long bone of foot"], "types": ["T190"], "canonical_name": "Abnormality of the third metatarsal bone", "definition": "An abnormality of the third metatarsal bone. [HPO:probinson]"} {"concept_id": "C4023749", "aliases": ["Deformity of the cheekbone", "Deformity of the zygomatic bone", "Anomaly of the zygomatic bone", "Malformation of the zygomatic bone", "Abnormality of the zygomatic bone", "Abnormality of the cheekbone"], "types": ["T190"], "canonical_name": "Abnormal zygomatic bone morphology", "definition": "An abnormality of the zygomatic bone. [HPO:curators]"} {"concept_id": "C4023751", "aliases": ["Small anterior nasal spine", "Decreased size of anterior nasal spine", "Underdevelopment of anterior nasal spine", "Decreased projection of anterior nasal spine", "Deficiency of anterior nasal spine"], "types": ["T190"], "canonical_name": "Hypoplasia of the anterior nasal spine", "definition": "Underdevelopment of the anterior nasal spine of maxilla. [HPO:probinson]"} {"concept_id": "C4023752", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the diencephalon", "definition": "An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. [HPO:probinson]"} {"concept_id": "C4023753", "aliases": [], "types": ["T190"], "canonical_name": "Absence of the third cerebral ventricle", "definition": "A developmental defect characterized by the absence of the third ventricle. [HPO:probinson]"} {"concept_id": "C4023754", "aliases": [], "types": ["T033"], "canonical_name": "Patchy changes of bone mineral density", "definition": "Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density). [HPO:curators]"} {"concept_id": "C4023755", "aliases": [], "types": ["T033"], "canonical_name": "Patchy reduction of bone mineral density", "definition": "Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:curators]"} {"concept_id": "C4023756", "aliases": ["Absent cerebral falx"], "types": ["T033"], "canonical_name": "Aplasia of the falx cerebri", "definition": "A developmental defect characterized by aplasia of the Falx cerebri. [HPO:probinson]"} {"concept_id": "C4023757", "aliases": ["Abnormality of the dura mater"], "types": ["T190"], "canonical_name": "Abnormal dura mater morphology", "definition": "An abnormality of the Dura mater. [HPO:probinson]"} {"concept_id": "C4023758", "aliases": ["Abnormality of the meninges"], "types": ["T190"], "canonical_name": "Abnormal meningeal morphology", "definition": "An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. [HPO:probinson]"} {"concept_id": "C4023759", "aliases": ["Depressed nasal alae", "Flat nasal alar cartilage"], "types": ["T033"], "canonical_name": "Flat nasal alae", "definition": "An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). [HPO:probinson]"} {"concept_id": "C4023760", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal elasticity of skin", "definition": "Any abnormal increase or reduction in skin elasticity. [DDD:cmoss]"} {"concept_id": "C4023761", "aliases": ["Absent outermost bone of the toes"], "types": ["T033"], "canonical_name": "Aplasia of the distal phalanges of the toes", "definition": "Absence of the distal phalanges of the toes. [HPO:curators]"} {"concept_id": "C4023762", "aliases": [], "types": ["T190"], "canonical_name": "Midnasal atresia", "definition": "Absence or abnormal closure of the midnasal cavity. [HPO:curators]"} {"concept_id": "C4023763", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the nasal cavity", "definition": "Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). [HPO:curators]"} {"concept_id": "C4023764", "aliases": ["Elevated ALP of hepatic origin"], "types": ["T033"], "canonical_name": "Elevated alkaline phosphatase of hepatic origin", "definition": "An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. [HPO:probinson]"} {"concept_id": "C4023765", "aliases": [], "types": ["T033"], "canonical_name": "Partial hyposmia", "definition": "Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). [HPO:probinson]"} {"concept_id": "C4023766", "aliases": [], "types": ["T033"], "canonical_name": "Total hyposmia", "definition": "Reduced ability to detect any qualitative olfactory sensation. [HPO:curators]"} {"concept_id": "C4023767", "aliases": [], "types": ["T047"], "canonical_name": "Partial anosmia", "definition": "Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). [HPO:curators]"} {"concept_id": "C4023768", "aliases": [], "types": ["T033"], "canonical_name": "Total anosmia", "definition": "Inability to detect any qualitative olfactory sensation. [HPO:curators]"} {"concept_id": "C4023769", "aliases": ["Abnormality of the end part of the foot bone"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the feet", "definition": "Any abnormality of the epiphyses of the feet. [HPO:curators]"} {"concept_id": "C4023770", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal morphology of the cortex of the humerus", "definition": "Any abnormality affecting the cortex of the humerus. [HPO:curators]"} {"concept_id": "C4023771", "aliases": [], "types": ["T019"], "canonical_name": "Anterior pituitary dysgenesis", "definition": "Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis. [DDD:spark, HPO:probinson]"} {"concept_id": "C4023772", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the proximal ulnar epiphysis", "definition": "Any abnormality of the proximal epiphysis of the ulna. [HPO:curators]"} {"concept_id": "C4023773", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the distal ulnar epiphysis", "definition": "Any abnormality of the distal epiphysis of the ulna. [HPO:curators]"} {"concept_id": "C4023774", "aliases": ["Abnormality of the end part of the outermost long bone in upper arm"], "types": ["T190"], "canonical_name": "Abnormality of the distal humeral epiphysis", "definition": "Any abnormality of the distal epiphysis of the humerus. [HPO:curators]"} {"concept_id": "C4023775", "aliases": ["Abnormality of the end part of the innermost long bone in upper arm"], "types": ["T190"], "canonical_name": "Abnormality of the proximal humeral epiphysis", "definition": "Any abnormality of the proximal epiphysis of the humerus. [HPO:curators]"} {"concept_id": "C4023776", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the distal radial epiphysis", "definition": "Any abnormality of the distal epiphysis of the radius. [HPO:curators]"} {"concept_id": "C4023777", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the proximal radial epiphysis", "definition": "Any abnormality of the proximal epiphysis of the radius. [HPO:curators]"} {"concept_id": "C4023778", "aliases": ["Abnormality of the outermost end part of calf bone"], "types": ["T190"], "canonical_name": "Abnormality of the distal fibular epiphysis", "definition": "Any abnormality of the distal epiphysis of the fibula. [HPO:curators]"} {"concept_id": "C4023779", "aliases": ["Abnormality of the innermost end part of calf bone"], "types": ["T190"], "canonical_name": "Abnormality of the proximal fibular epiphysis", "definition": "Any abnormality of the proximal epiphysis of the fibula. [HPO:curators]"} {"concept_id": "C4023780", "aliases": ["Abnormality of the end part of the calf bone"], "types": ["T190"], "canonical_name": "Abnormality of fibular epiphyses"} {"concept_id": "C4023781", "aliases": ["Abnormality of the end part of outermost shinbone", "Abnormality of the end part of outermost shankbone"], "types": ["T190"], "canonical_name": "Abnormality of the distal tibial epiphysis"} {"concept_id": "C4023782", "aliases": ["Abnormality of the end part of innermost shinbone", "Abnormality of the end part of innermost shankbone"], "types": ["T190"], "canonical_name": "Abnormality of the proximal tibial epiphysis", "definition": "Any abnormality of the proximal epiphysis of the tibia. [HPO:curators]"} {"concept_id": "C4023783", "aliases": ["Abnormality of the end part of the outermost thighbone"], "types": ["T190"], "canonical_name": "Abnormality of the distal femoral epiphysis", "definition": "Any abnormality of the distal epiphysis of the femur. [HPO:probinson]"} {"concept_id": "C4023784", "aliases": ["Triangular end part of bone"], "types": ["T190"], "canonical_name": "Triangular epiphyses"} {"concept_id": "C4023785", "aliases": ["Bracket shaped end part of long bone"], "types": ["T190"], "canonical_name": "Bracket epiphyses"} {"concept_id": "C4023786", "aliases": ["Elevated levels of phytanic acid"], "types": ["T033"], "canonical_name": "Elevated levels of phytanic acid", "definition": "An abnormal elevation of phytanic acid. [HPO:curators]"} {"concept_id": "C4023787", "aliases": ["Low maternal serum alpha-fetoprotein"], "types": ["T033"], "canonical_name": "Low maternal serum alpha-fetoprotein", "definition": "An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age. [HPO:probinson]"} {"concept_id": "C4023788", "aliases": [], "types": ["T191"], "canonical_name": "Hamartoma of the eye", "definition": "A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye. [HPO:probinson]"} {"concept_id": "C4023789", "aliases": ["Y-shaped long bone of foot"], "types": ["T046"], "canonical_name": "Y-shaped metatarsals", "definition": "Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly. [HPO:curators]"} {"concept_id": "C4023790", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the Epiglottis", "definition": "This term applies if the Epiglottis is absent or hypoplastic. [HPO:curators]"} {"concept_id": "C4023791", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the clivus", "definition": "An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum. [HPO:curators]"} {"concept_id": "C4023792", "aliases": [], "types": ["T047"], "canonical_name": "Paraplegia/paraparesis", "definition": "Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. [HPO:curators]"} {"concept_id": "C4023793", "aliases": [], "types": ["T033"], "canonical_name": "Advanced pneumatization of cranial sinuses", "definition": "A degree of pneumatization that is increased compared to age-related norms. [HPO:probinson]"} {"concept_id": "C4023794", "aliases": ["Hypoplasia of sella turcica"], "types": ["T033"], "canonical_name": "Small sella turcica", "definition": "An abnormally small sella turcica. [HPO:curators]"} {"concept_id": "C4023795", "aliases": ["Abnormal thymus position"], "types": ["T033"], "canonical_name": "Ectopic thymus tissue", "definition": "The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend. [HPO:curators]"} {"concept_id": "C4023796", "aliases": ["Absent/underdeveloped thymus", "Absent/small thymus"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the thymus", "definition": "Absence or underdevelopment of the thymus. [HPO:probinson]"} {"concept_id": "C4023797", "aliases": [], "types": ["T020"], "canonical_name": "Pituitary calcification", "definition": "Deposition of calcium salts in the pituitary gland. [HPO:probinson]"} {"concept_id": "C4023798", "aliases": [], "types": ["T033"], "canonical_name": "Hypermobility of toe joints", "definition": "An ability of the toe joints to move beyond their normal range of motion. [HPO:curators]"} {"concept_id": "C4023799", "aliases": [], "types": ["T019"], "canonical_name": "Foot asymmetry", "definition": "A difference in size or shape between the left and right foot. [HPO:curators]"} {"concept_id": "C4023800", "aliases": [], "types": ["T033"], "canonical_name": "Limitation of movement at ankles", "definition": "An abnormal limitation of the mobility of the ankle joint. [HPO:curators]"} {"concept_id": "C4023801", "aliases": ["Bowed calf bone"], "types": ["T190"], "canonical_name": "Fibular bowing", "definition": "A bending or abnormal curvature of the fibula. [HPO:probinson]"} {"concept_id": "C4023802", "aliases": [], "types": ["T190"], "canonical_name": "Hyperextensibility of the knee", "definition": "The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh). [HPO:probinson]"} {"concept_id": "C4023803", "aliases": [], "types": ["T190"], "canonical_name": "Hypertrophy of the lower limb", "definition": "Abnormal increase in size of the lower limbs (due to an increase of the size of cells). [HPO:curators]"} {"concept_id": "C4023804", "aliases": [], "types": ["T019"], "canonical_name": "Amniotic constriction rings of legs", "definition": "Amniotic constriction rings affecting the legs. [HPO:probinson]"} {"concept_id": "C4023805", "aliases": [], "types": ["T019"], "canonical_name": "Acromelia of the lower limbs", "definition": "Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments. [HPO:probinson]"} {"concept_id": "C4023806", "aliases": ["Absent/small palm crease", "Absent/underdeveloped palm crease"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the palmar creases", "definition": "Absence or underdevelopment of the palmar creases. [HPO:curators]"} {"concept_id": "C4023807", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the hypothenar eminence", "definition": "An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger). [HPO:probinson]"} {"concept_id": "C4023808", "aliases": [], "types": ["T190"], "canonical_name": "Hyperextensibility at elbow", "definition": "The ability of the elbow joint to move beyond its normal range of motion. [HPO:curators]"} {"concept_id": "C4023809", "aliases": [], "types": ["T019"], "canonical_name": "Amniotic constriction rings of arms", "definition": "Amniotic constriction rings affecting the arms. [HPO:curators]"} {"concept_id": "C4023810", "aliases": [], "types": ["T019"], "canonical_name": "Acromelia of the upper limbs", "definition": "Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments. [HPO:curators]"} {"concept_id": "C4023811", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the urachus", "definition": "Abnormality of the urachus. [HPO:probinson]"} {"concept_id": "C4023812", "aliases": ["Absent bladder"], "types": ["T033"], "definition": "Aplasia (absence) of the urinary bladder. [HPO:probinson]", "canonical_name": "Aplasia of the bladder"} {"concept_id": "C4023813", "aliases": ["Absent/underdeveloped bladder", "Absent/small bladder"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the bladder", "definition": "Absence or underdevelopment of the urinary bladder. [HPO:probinson]"} {"concept_id": "C4023814", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating porphyrin concentration", "definition": "An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes. [HPO:curators]"} {"concept_id": "C4023815", "aliases": [], "types": ["T033"], "canonical_name": "Oligosacchariduria", "definition": "Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. [HPO:probinson]"} {"concept_id": "C4023817", "aliases": ["Absent/small testes", "Absent/underdeveloped testes"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the testes", "definition": "Absence or underdevelopment of the testes. [HPO:curators]"} {"concept_id": "C4023818", "aliases": ["Absent/underdeveloped ovary", "Absent/small ovary"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the ovary", "definition": "Aplasia or developmental hypoplasia of the ovary. [HPO:probinson]"} {"concept_id": "C4023819", "aliases": ["Abnormality of the male genitalia", "Abnormal male genitals"], "types": ["T190"], "canonical_name": "Abnormality of the male genitalia", "definition": "Abnormality of the male genital system. [HPO:probinson]"} {"concept_id": "C4023820", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the female genitalia", "definition": "Abnormality of the female genital system. [HPO:probinson]"} {"concept_id": "C4023822", "aliases": ["Abnormality of the sacroiliac notch", "Abnormality of greater sciatic notch", "Abnormality of the greater sacrosciatic notch"], "types": ["T190"], "canonical_name": "Abnormal greater sciatic notch morphology", "definition": "An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. [HPO:curators]"} {"concept_id": "C4023823", "aliases": ["Absent/underdeveloped spleen", "Absent/small spleen"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the spleen", "definition": "Absence or underdevelopment of the spleen. [HPO:curators]"} {"concept_id": "C4023824", "aliases": ["Notched thighbone", "Split thighbone"], "types": ["T190"], "canonical_name": "Bifid femur", "definition": "A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. [HPO:probinson]"} {"concept_id": "C4023825", "aliases": [], "types": ["T019"], "canonical_name": "Ectopic accessory finger-like appendage", "definition": "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). [HPO:probinson]"} {"concept_id": "C4023826", "aliases": [], "types": ["T019"], "canonical_name": "Ectopic accesory toe-like appendage", "definition": "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). [HPO:curators]"} {"concept_id": "C4023827", "aliases": ["Absent innermost 2nd toe bone"], "types": ["T033"], "canonical_name": "Aplasia of the proximal phalanx of the 2nd toe"} {"concept_id": "C4023828", "aliases": ["Absent middle bone of 2nd toe"], "types": ["T190"], "canonical_name": "Aplasia of the middle phalanx of the 2nd toe"} {"concept_id": "C4023829", "aliases": ["Absent 2nd toe bones"], "types": ["T033"], "canonical_name": "Aplasia of the phalanges of the 2nd toe"} {"concept_id": "C4023830", "aliases": ["Complete duplication of the 2nd toe bones"], "types": ["T190"], "canonical_name": "Complete duplication of the phalanges of the 2nd toe", "definition": "Complete duplication of a phalanx of second toe. [HPO:sdoelken]"} {"concept_id": "C4023831", "aliases": ["Partial duplication of 2nd toe bone"], "types": ["T190"], "canonical_name": "Partial duplication of phalanx of the 2nd toe", "definition": "Partial duplication of a phalanx of second toe. [HPO:sdoelken]"} {"concept_id": "C4023832", "aliases": ["Partial duplication of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Partial duplication of the middle phalanx of the 2nd toe", "definition": "Partial duplication of middle phalanx of second toe. [HPO:sdoelken]"} {"concept_id": "C4023833", "aliases": ["Complete duplication of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Complete duplication of the middle phalanx of the 2nd toe", "definition": "Complete duplication of middle phalanx of second toe. [HPO:sdoelken]"} {"concept_id": "C4023834", "aliases": ["Partial duplication of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Partial duplication of the distal phalanx of the 2nd toe", "definition": "Partial duplication of the distal phalanx of second toe. [HPO:probinson]"} {"concept_id": "C4023835", "aliases": ["Complete duplication of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Complete duplication of the distal phalanx of the 2nd toe", "definition": "Complete duplication of the distal phalanx of second toe. [HPO:probinson]"} {"concept_id": "C4023836", "aliases": ["Triangular shaped outermost 2nd toe bone"], "types": ["T190"], "canonical_name": "Triangular shaped distal phalanx of the 2nd toe"} {"concept_id": "C4023837", "aliases": ["Fused outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the distal phalanx of the 2nd toe"} {"concept_id": "C4023838", "aliases": ["Uneven increase in bone density in the outermost bone of the 2nd toe"], "types": ["T033"], "canonical_name": "Patchy sclerosis of the distal phalanx of the 2nd toe"} {"concept_id": "C4023839", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the distal phalanx of the 2nd toe"} {"concept_id": "C4023840", "aliases": ["Curved outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Curved distal phalanx of the 2nd toe", "definition": "A deviation from the normal straight form of the distal phalanx of the 2nd toe. [HPO:probinson]"} {"concept_id": "C4023841", "aliases": ["Bullet-shaped outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Bullet-shaped distal phalanx of the 2nd toe", "definition": "An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4023842", "aliases": ["Broad outermost bone of the 2nd toe", "Wide outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Broad distal phalanx of the 2nd toe"} {"concept_id": "C4023843", "aliases": ["Absent/underdeveloped outermost 2nd toe bone", "Absent/small outermost 2nd toe bone"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the distal phalanx of the 2nd toe"} {"concept_id": "C4023844", "aliases": ["Triangular shaped middle bone of 2nd toe"], "types": ["T190"], "canonical_name": "Triangular shaped middle phalanx of the 2nd toe"} {"concept_id": "C4023845", "aliases": ["Fused middle bone of 2nd toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the middle phalanx of the 2nd toe"} {"concept_id": "C4023846", "aliases": ["Uneven increase in bone density in the middle bone of the 2nd toe"], "types": ["T033"], "canonical_name": "Patchy sclerosis of the middle phalanx of the 2nd toe"} {"concept_id": "C4023847", "aliases": [], "types": ["T033"], "canonical_name": "Osteolytic defects of the middle phalanx of the 2nd toe"} {"concept_id": "C4023848", "aliases": ["Curved middle bone of 2nd toe"], "types": ["T190"], "canonical_name": "Curved middle phalanx of the 2nd toe", "definition": "A deviation from the normal straight form of the middle phalanx of the 2nd toe. [HPO:probinson]"} {"concept_id": "C4023849", "aliases": ["Bullet-shaped middle bone of 2nd toe"], "types": ["T190"], "canonical_name": "Bullet-shaped middle phalanx of the 2nd toe", "definition": "An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4023850", "aliases": ["Broad middle bone of 2nd toe"], "types": ["T190"], "canonical_name": "Broad middle phalanx of the 2nd toe"} {"concept_id": "C4023851", "aliases": ["Absent/small middle bone of 2nd toe", "Absent/underdeveloped middle bone of 2nd toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the middle phalanx of the 2nd toe"} {"concept_id": "C4023852", "aliases": ["Triangular shaped innermost 2nd toe bone"], "types": ["T190"], "canonical_name": "Triangular shaped proximal phalanx of the 2nd toe"} {"concept_id": "C4023853", "aliases": ["Fused innermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the proximal phalanx of the 2nd toe"} {"concept_id": "C4023854", "aliases": ["Uneven increase in bone density in the innermost bone of the 2nd toe"], "types": ["T033"], "canonical_name": "Patchy sclerosis of the proximal phalanx of the 2nd toe"} {"concept_id": "C4023855", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the proximal phalanx of the 2nd toe"} {"concept_id": "C4023856", "aliases": ["Curved innermost bone of 2nd toe"], "types": ["T190"], "canonical_name": "Curved proximal phalanx of the 2nd toe", "definition": "A deviation from the normal straight form of the proximal phalanx of the 2nd toe. [HPO:probinson]"} {"concept_id": "C4023857", "aliases": ["Bullet-shaped innermost bone of 2nd toe"], "types": ["T190"], "canonical_name": "Bullet-shaped proximal phalanx of the 2nd toe", "definition": "An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4023858", "aliases": ["Broad innermost bone of 2nd toe"], "types": ["T190"], "canonical_name": "Broad proximal phalanx of the 2nd toe"} {"concept_id": "C4023859", "aliases": ["Absent/underdeveloped innermost 2nd toe bone", "Absent/small innermost 2nd toe bone"], "types": ["T033"], "canonical_name": "Aplasia/hypoplasia of the proximal phalanx of the 2nd toe", "definition": "Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe. [HPO:probinson]"} {"concept_id": "C4023860", "aliases": ["Abnormality of the innermost bone of the pinkie toe", "Abnormality of the innermost bone of the pinky toe", "Abnormality of the innermost bone of the little toe"], "types": ["T190"], "canonical_name": "Abnormal morphology of the proximal phalanx of the 5th toe"} {"concept_id": "C4023861", "aliases": ["Abnormality of the middle bone of the pinkie toe", "Abnormality of the middle bone of the pinky toe", "Abnormality of the middle bone of the little toe"], "types": ["T190"], "canonical_name": "Abnormality of the middle phalanx of the 5th toe"} {"concept_id": "C4023862", "aliases": ["Abnormality of the outermost bone of the pinky toe", "Abnormality of the outermost bone of the little toe", "Abnormality of the outermost bone of the pinkie toe"], "types": ["T190"], "canonical_name": "Abnormality of the distal phalanx of the 5th toe"} {"concept_id": "C4023863", "aliases": ["Triangular shaped pinkie toe bone", "Triangular shaped pinky toe bone", "Triangular shaped little toe bone"], "types": ["T190"], "canonical_name": "Triangular shaped phalanges of the 5th toe"} {"concept_id": "C4023864", "aliases": ["Fused bones in the little toe", "Fused bones in the pinky toe", "Fused bones in the pinkie toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the phalanges of the 5th toe"} {"concept_id": "C4023865", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the phalanges of the 5th toe"} {"concept_id": "C4023866", "aliases": ["Broad bones of the pinky toe", "Broad bones of the pinkie toe", "Broad bones of the little toe"], "types": ["T190"], "canonical_name": "Broad phalanges of the 5th toe"} {"concept_id": "C4023867", "aliases": ["Absent/small pinkie toe bones", "Absent/underdeveloped pinky toe bones", "Absent/small little toe bones", "Absent/small pinky toe bones"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the phalanges of the 5th toe"} {"concept_id": "C4023868", "aliases": ["Abnormal innermost 4th toe bone"], "types": ["T190"], "canonical_name": "Abnormal morphology of the proximal phalanx of the 4th toe"} {"concept_id": "C4023869", "aliases": ["Abnormality of middle 4th toe bone"], "types": ["T190"], "canonical_name": "Abnormality of the middle phalanx of the 4th toe"} {"concept_id": "C4023870", "aliases": ["Abnormality of the outermost 4th toe bone"], "types": ["T190"], "canonical_name": "Abnormality of the distal phalanx of the 4th toe"} {"concept_id": "C4023871", "aliases": ["Triangular shaped bones of 4th toe"], "types": ["T190"], "canonical_name": "Triangular shaped phalanges of the 4th toe"} {"concept_id": "C4023872", "aliases": ["Fused bones of 4th toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the phalanges of the 4th toe"} {"concept_id": "C4023873", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the phalanges of the 4th toe"} {"concept_id": "C4023874", "aliases": ["Broad bones of the 4th toe"], "types": ["T033"], "canonical_name": "Broad phalanges of the 4th toe"} {"concept_id": "C4023875", "aliases": ["Absent/underdeveloped bones of 4th toe", "Absent/small bones of 4th toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the phalanges of the 4th toe"} {"concept_id": "C4023876", "aliases": ["Abnormality of the innermost bone of 3rd toe"], "types": ["T190"], "canonical_name": "Abnormal morphology of the proximal phalanx of the 3rd toe", "definition": "An anomaly of the proximal phalanx of third toe. [HPO:probinson]"} {"concept_id": "C4023877", "aliases": ["Abnormality of the middle bone of 3rd toe"], "types": ["T190"], "canonical_name": "Abnormality of the middle phalanx of the 3rd toe"} {"concept_id": "C4023878", "aliases": ["Abnormality of the outermost bone of the 3rd toe"], "types": ["T190"], "canonical_name": "Abnormality of the distal phalanx of the 3rd toe"} {"concept_id": "C4023879", "aliases": ["Triangular shaped 3rd toe bones"], "types": ["T190"], "canonical_name": "Triangular shaped phalanges of the 3rd toe"} {"concept_id": "C4023880", "aliases": ["Fused bones of 3rd toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the phalanges of the 3rd toe"} {"concept_id": "C4023881", "aliases": ["Wide bones of 3rd toe"], "types": ["T190"], "canonical_name": "Broad phalanges of the 3rd toe"} {"concept_id": "C4023882", "aliases": ["Absent/underdeveloped bones of 3rd toe", "Absent/small bones of 3rd toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the phalanges of the 3rd toe"} {"concept_id": "C4023883", "aliases": ["Abnormality of the innermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Abnormal morphology of the proximal phalanx of the 2nd toe"} {"concept_id": "C4023884", "aliases": ["Abnormality of the middle bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Abnormality of the middle phalanx of the 2nd toe"} {"concept_id": "C4023885", "aliases": ["Abnormality of the outermost bone of the 2nd toe"], "types": ["T190"], "canonical_name": "Abnormality of the distal phalanx of the 2nd toe"} {"concept_id": "C4023886", "aliases": ["Triangular shaped bone of 2nd toe", "Triangular shaped bone of second toe"], "types": ["T190"], "canonical_name": "Triangular shaped phalanges of the 2nd toe"} {"concept_id": "C4023887", "aliases": ["Fused bones of 2nd toe", "2nd toe symphalangism", "Symphalangism affecting the phalanges of the 2nd toe"], "types": ["T190"], "canonical_name": "Second toe symphalangism", "definition": "Fusion of the interphalangeal joints of the 2nd toe. [HPO:probinson]"} {"concept_id": "C4023888", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the phalanges of the 2nd toe"} {"concept_id": "C4023889", "aliases": ["Broad bones of the 2nd toe"], "types": ["T033"], "canonical_name": "Broad phalanges of the 2nd toe"} {"concept_id": "C4023890", "aliases": ["Absent/underdeveloped bones of 2nd toe", "Absent/small bones of 2nd toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the phalanges of the 2nd toe"} {"concept_id": "C4023891", "aliases": ["Absent/small pinkie toe", "Absent/small pinky toe", "Absent/small little toe", "Absent/underdeveloped pinky toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the 5th toe"} {"concept_id": "C4023892", "aliases": ["Abnormality of the pinky toe bones", "Abnormality of the pinkie toe bones", "Abnormality of the little toe bones"], "types": ["T190"], "canonical_name": "Abnormality of the phalanges of the 5th toe"} {"concept_id": "C4023893", "aliases": ["Abnormality of the end part of the pinkie toe bone", "Abnormality of the end part of the pinky toe bone", "Abnormality of the end part of the little toe bone"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the 5th toe"} {"concept_id": "C4023894", "aliases": [], "types": ["T019"], "canonical_name": "Polydactyly affecting the 4th toe"} {"concept_id": "C4023895", "aliases": ["Absent/underdeveloped 4th toe", "Absent/small 4th toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the 4th toe"} {"concept_id": "C4023896", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the phalanges of the 4th toe"} {"concept_id": "C4023897", "aliases": ["Abnormality of the end part of the 4th toe bone"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the 4th toe"} {"concept_id": "C4023898", "aliases": [], "types": ["T019"], "canonical_name": "Polydactyly affecting the 3rd toe"} {"concept_id": "C4023899", "aliases": ["Abnormality of the bones of the 3rd toe"], "types": ["T190"], "canonical_name": "Abnormality of the phalanges of the 3rd toe"} {"concept_id": "C4023900", "aliases": ["Abnormality of the end part of the 3rd toe bone"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the 3rd toe"} {"concept_id": "C4023901", "aliases": [], "types": ["T019"], "canonical_name": "Polydactyly affecting the 2nd toe"} {"concept_id": "C4023902", "aliases": ["Absent/small 2nd toe", "Absent/underdeveloped 2nd toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the 2nd toe"} {"concept_id": "C4023903", "aliases": ["Abnormality of the 2nd toe bone"], "types": ["T190"], "canonical_name": "Abnormal morphology of phalanx of the 2nd toe", "definition": "An anomaly of a phalanx of second toe. [HPO:sdoelken]"} {"concept_id": "C4023904", "aliases": ["Abnormality of the end part of the 2nd toe bone"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the 2nd toe"} {"concept_id": "C4023905", "aliases": ["Abnormality of the little toe", "Abnormality of the pinky toe", "Abnormality of the pinkie toe"], "types": ["T190"], "canonical_name": "Abnormality of the 5th toe", "definition": "An anomaly of the little toe. [HPO:probinson]"} {"concept_id": "C4023906", "aliases": ["Abnormality of the 4th toe"], "types": ["T190"], "canonical_name": "Abnormality of the 4th toe", "definition": "An anomaly of the fourth toe. [HPO:probinson]"} {"concept_id": "C4023907", "aliases": ["Abnormality of the 3rd toe"], "types": ["T190"], "canonical_name": "Abnormality of the 3rd toe", "definition": "An anomaly of the third toe. [HPO:probinson]"} {"concept_id": "C4023908", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the 2nd toe", "definition": "An anomaly of the second toe. [HPO:probinson]"} {"concept_id": "C4023909", "aliases": ["Absent/small abdominal wall muscles", "Absent/underdeveloped abdominal wall muscles"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the abdominal wall musculature", "definition": "Absence or underdevelopment of the abdominal musculature. [HPO:curators]"} {"concept_id": "C4023910", "aliases": ["Absent/underdeveloped diaprhagm", "Absent/small diaprhagm"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the diaphragm", "definition": "Absence or underdevelopment of the diaphragm. [HPO:curators]"} {"concept_id": "C4023911", "aliases": ["Absent/small breasts", "Absent/underdeveloped breasts"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the breasts", "definition": "Absence or underdevelopment of the breasts. [HPO:curators]"} {"concept_id": "C4023912", "aliases": ["Aplasia of the sternum", "Breast bone aplasia"], "types": ["T019"], "canonical_name": "Asternia", "definition": "The congenital absence of the sternum. [HPO:probinson, PMID:3424262]"} {"concept_id": "C4023913", "aliases": [], "types": ["T047"], "canonical_name": "Spinal meningeal diverticulum", "definition": "An outpouching of the spinal meninges. [HPO:curators]"} {"concept_id": "C4023914", "aliases": ["Abnormality of the spinal meninges"], "types": ["T190"], "canonical_name": "Abnormal spinal meningeal morphology", "definition": "Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord. [HPO:probinson]"} {"concept_id": "C4023915", "aliases": [], "types": ["T190"], "canonical_name": "Abnormally low-pitched voice", "definition": "An abnormally low-pitched voice. [HPO:curators]"} {"concept_id": "C4023916", "aliases": ["Lingual aplasia/hypoplasia"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the tongue", "definition": "Absence or underdevelopment of the tongue. [HPO:curators]"} {"concept_id": "C4023917", "aliases": ["Aplasia/hypoplasia of palatine uvula"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the uvula", "definition": "Underdevelopment or absence of the uvula. [HPO:curators]"} {"concept_id": "C4023918", "aliases": ["Decreased length of hard palate"], "types": ["T190"], "canonical_name": "Short hard palate", "definition": "Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective). [PMID:19125428]"} {"concept_id": "C4023919", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the sublingual glands", "definition": "Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands. [HPO:curators]"} {"concept_id": "C4023920", "aliases": ["Abnormality of the submaxillary glands"], "types": ["T190"], "canonical_name": "Abnormality of the submandibular glands", "definition": "Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles. [HPO:curators]"} {"concept_id": "C4023921", "aliases": ["Synechiae of the mouth", "Oral fibrous bands"], "types": ["T033"], "canonical_name": "Oral synechia", "definition": "Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges. [PMID:19125428]"} {"concept_id": "C4023923", "aliases": ["Triangular end part of the innermost hand bones"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the proximal phalanges of the hand"} {"concept_id": "C4023924", "aliases": ["Speckled calcifications in the end part of the innermost hand bones"], "types": ["T190"], "canonical_name": "Stippling of the epiphyses of the proximal phalanges of the hand"} {"concept_id": "C4023925", "aliases": ["Small end part of the innermost hand bones"], "types": ["T190"], "canonical_name": "Small epiphyses of the proximal phalanges of the hand"} {"concept_id": "C4023926", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphyses of the proximal phalanges of the hand", "definition": "A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4023927", "aliases": ["Increased bone density of end part of the innermost hand bones"], "types": ["T190"], "canonical_name": "Ivory epiphyses of the proximal phalanges of the hand", "definition": "Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]"} {"concept_id": "C4023928", "aliases": ["Irregular end part of the innermost hand bones"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the proximal phalanges of the hand"} {"concept_id": "C4023929", "aliases": ["Fragmentation of the end part of the innermost hand bones"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the proximal phalanges of the hand"} {"concept_id": "C4023930", "aliases": ["Enlarged end part of the innermost hand bones"], "types": ["T190"], "canonical_name": "Enlarged epiphyses of the proximal phalanges of the hand"} {"concept_id": "C4023931", "aliases": ["Cone-shaped end part of the innermost hand bones"], "types": ["T190"], "canonical_name": "Cone-shaped epiphyses of the proximal phalanges of the hand"} {"concept_id": "C4023932", "aliases": ["Bracket shaped end part of the innermost hand bones"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the proximal phalanges of the hand", "definition": "An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [ORCID:0000-0001-7941-2961]"} {"concept_id": "C4023933", "aliases": ["Absent end part of the innermost hand bones"], "types": ["T190"], "canonical_name": "Absent epiphyses of the proximal phalanges of the hand"} {"concept_id": "C4023934", "aliases": ["Triangular end part of the middle hand bones"], "types": ["T033"], "canonical_name": "Triangular epiphyses of the middle phalanges of the hand"} {"concept_id": "C4023935", "aliases": ["Speckled calcifications in the end part of the middle hand bones"], "types": ["T190"], "canonical_name": "Stippling of the epiphyses of the middle phalanges of the hand"} {"concept_id": "C4023936", "aliases": ["Small end part of the middle hand bones"], "types": ["T190"], "canonical_name": "Small epiphyses of the middle phalanges of the hand"} {"concept_id": "C4023937", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphyses of the middle phalanges of the hand", "definition": "A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. []"} {"concept_id": "C4023938", "aliases": ["Increased bone density of end part of the middle hand bones"], "types": ["T190"], "canonical_name": "Ivory epiphyses of the middle phalanges of the hand", "definition": "Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]"} {"concept_id": "C4023939", "aliases": ["Irregular end part of middle hand bones"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the middle phalanges of the hand"} {"concept_id": "C4023940", "aliases": ["Fragmentation of the end part of the middle hand bones"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the middle phalanges of the hand", "definition": "Fragmented appearance of the epiphyses of the middle phalanges of the hand. [HPO:curators]"} {"concept_id": "C4023941", "aliases": ["Enlarged end part of the middle hand bones"], "types": ["T190"], "canonical_name": "Enlarged epiphyses of the middle phalanges of the hand"} {"concept_id": "C4023942", "aliases": ["Bracket shaped end part of the middle hand bones"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the middle phalanges of the hand", "definition": "An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4023943", "aliases": ["Absent end part of the middle hand bones"], "types": ["T190"], "canonical_name": "Absent epiphyses of the middle phalanges of the hand"} {"concept_id": "C4023944", "aliases": ["Triangular end part of the outermost hand bones"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the distal phalanges of the hand"} {"concept_id": "C4023945", "aliases": ["Speckled calcifications in the end part of the outermost hand bones"], "types": ["T190"], "canonical_name": "Stippling of the epiphyses of the distal phalanges of the hand"} {"concept_id": "C4023946", "aliases": ["Small end part of the outermost hand bones"], "types": ["T190"], "canonical_name": "Small epiphyses of the distal phalanges of the hand"} {"concept_id": "C4023947", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphyses of the distal phalanges of the hand", "definition": "A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. []"} {"concept_id": "C4023948", "aliases": ["Irregular end part of the outermost hand bones"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the distal phalanges of the hand"} {"concept_id": "C4023949", "aliases": ["Fragmentation of the end part of the outermost hand bones"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the distal phalanges of the hand"} {"concept_id": "C4023950", "aliases": ["Enlarged end part of the outermost hand bones"], "types": ["T190"], "canonical_name": "Enlarged epiphyses of the distal phalanges of the hand"} {"concept_id": "C4023951", "aliases": ["Cone-shaped end part of the outermost hand bones"], "types": ["T190"], "canonical_name": "Cone-shaped epiphyses of the distal phalanges of the hand"} {"concept_id": "C4023952", "aliases": ["Bracket shaped end part of the outermost hand bones"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the distal phalanges of the hand", "definition": "An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4023953", "aliases": ["Absent end part of the outermost hand bones"], "types": ["T190"], "canonical_name": "Absent epiphyses of the distal phalanges of the hand"} {"concept_id": "C4023954", "aliases": ["Abnormality of the end part of the innermost hand bones"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the proximal phalanges of the hand"} {"concept_id": "C4023955", "aliases": ["Abnormality of the end part of the middle hand bones"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the middle phalanges of the hand"} {"concept_id": "C4023956", "aliases": ["Abnormality of the end part of the outermost bone of finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the distal phalanx of finger", "definition": "Any anomaly of distal epiphysis of phalanx of finger. [HPO:probinson]"} {"concept_id": "C4023957", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the 5th metacarpal", "definition": "The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. [HPO:curators]"} {"concept_id": "C4023958", "aliases": ["Abnormality of the end part of the long bone of little finger", "Abnormality of the end part of the long bone of pinky finger", "Abnormality of the end part of the long bone of pinkie finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the 5th metacarpal", "definition": "Any abnormality of the epiphysis of the fifth metacarpal bone. [HPO:curators]"} {"concept_id": "C4023959", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the 4th metacarpal", "definition": "The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. [HPO:curators]"} {"concept_id": "C4023960", "aliases": ["Abnormality of the end part of the 4th long bone of hand"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the 4th metacarpal", "definition": "Any abnormality of the epiphysis of the 4th metacarpal bone. [HPO:curators]"} {"concept_id": "C4023961", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the 3rd metacarpal", "definition": "The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. [HPO:curators]"} {"concept_id": "C4023962", "aliases": ["Abnormality of the end part of the 3rd long bone of hand"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the 3rd metacarpal", "definition": "Any abnormality of the epiphysis of the third metacarpal bone. [HPO:curators]"} {"concept_id": "C4023964", "aliases": ["Abnormality of the end part of the 2nd long bone of hand"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the 2nd metacarpal", "definition": "Any abnormality of the epiphysis of the second metacarpal bone. [HPO:curators]"} {"concept_id": "C4023965", "aliases": [], "types": ["T190"], "canonical_name": "Structural foot deformity", "definition": "A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies. [HPO:curators]"} {"concept_id": "C4023966", "aliases": [], "types": ["T190"], "canonical_name": "Contractures of the metatarsophalangeal joint of the hallux", "definition": "The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4023967", "aliases": [], "types": ["T190"], "canonical_name": "Contracture of the interphalangeal joint of the hallux", "definition": "The interphalangeal joint of the big toe cannot be straightened actively or passively. [HPO:probinson]"} {"concept_id": "C4023968", "aliases": [], "types": ["T033"], "canonical_name": "Contracture of the tarsometatarsal joint of the hallux", "definition": "Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints. [HPO:probinson]"} {"concept_id": "C4023969", "aliases": ["Triangular shaped innermost toe bones"], "types": ["T190"], "canonical_name": "Triangular shaped proximal phalanges of the toes"} {"concept_id": "C4023970", "aliases": ["Fused innermost bones of toes"], "types": ["T190"], "canonical_name": "Symphalangism affecting the proximal phalanges of the toes"} {"concept_id": "C4023971", "aliases": ["Broad innermost toe bone"], "types": ["T190"], "canonical_name": "Broad proximal phalanx of toe", "definition": "An increase in width of one ore more proximal toe phalanges. [HPO:probinson]"} {"concept_id": "C4023972", "aliases": ["Triangular shaped middle bones of toes"], "types": ["T190"], "canonical_name": "Triangular shaped middle phalanges of the toes"} {"concept_id": "C4023973", "aliases": ["Fused middle bones of toes"], "types": ["T190"], "canonical_name": "Symphalangism affecting the middle phalanges of the toes"} {"concept_id": "C4023974", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the middle phalanges of the toes"} {"concept_id": "C4023975", "aliases": ["Broad middle bones of the toes"], "types": ["T190"], "canonical_name": "Broad middle phalanges of the toes"} {"concept_id": "C4023976", "aliases": ["Absent/underdeveloped middle bones of toe", "Absent/small middle bones of toe"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the middle phalanges of the toes"} {"concept_id": "C4023977", "aliases": ["Triangular shaped outermost bone of the toes"], "types": ["T190"], "canonical_name": "Triangular shaped distal phalanges of the toes"} {"concept_id": "C4023978", "aliases": ["Fused outermost bones of toes"], "types": ["T190"], "canonical_name": "Symphalangism affecting the distal phalanges of the toes"} {"concept_id": "C4023979", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the distal phalanges of the toes"} {"concept_id": "C4023980", "aliases": ["Wide outermost bone of the toe", "Broad outermost bone of the toe"], "types": ["T190"], "canonical_name": "Broad distal phalanx of the toes", "definition": "Increased width of the distal phalanx of toe of one or more toes. [HPO:probinson]"} {"concept_id": "C4023981", "aliases": ["Abnormal middle bones of toe"], "types": ["T190"], "canonical_name": "Abnormality of the middle phalanges of the toes"} {"concept_id": "C4023982", "aliases": ["Abnormality of the outermost bone of the toes"], "types": ["T190"], "canonical_name": "Abnormality of the distal phalanges of the toes"} {"concept_id": "C4023983", "aliases": ["Triangular shaped toe bones"], "types": ["T190"], "canonical_name": "Triangular shaped phalanges of the toes"} {"concept_id": "C4023984", "aliases": ["Fused toe bones"], "types": ["T190"], "canonical_name": "Symphalangism affecting the phalanges of the toes"} {"concept_id": "C4023985", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the phalanges of the toes"} {"concept_id": "C4023986", "aliases": ["Wide toe bones"], "types": ["T190"], "canonical_name": "Broad phalanx of the toes", "definition": "Increased width of phalanx of one or more toes. [HPO:probinson]"} {"concept_id": "C4023987", "aliases": ["Absent/small toe bones", "Absent/underdeveloped toe bones"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the phalanges of the toes"} {"concept_id": "C4023988", "aliases": ["Triangular end part of the toe bones"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the toes"} {"concept_id": "C4023989", "aliases": ["Small end part of the toe bones"], "types": ["T190"], "canonical_name": "Small epiphyses of the toes"} {"concept_id": "C4023990", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphyses of the toes"} {"concept_id": "C4023991", "aliases": ["Increased bone density of end part of the toes"], "types": ["T190"], "canonical_name": "Ivory epiphyses of the toes"} {"concept_id": "C4023992", "aliases": ["Irregular end part of the toe bones"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the toes"} {"concept_id": "C4023993", "aliases": ["Fragmentation of the end part of the toe bones"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the toes"} {"concept_id": "C4023994", "aliases": ["Enlarged end part of the toe bones"], "types": ["T190"], "canonical_name": "Enlarged epiphyses of the toes"} {"concept_id": "C4023995", "aliases": ["Cone-shaped end part of the toe bones"], "types": ["T190"], "canonical_name": "Cone-shaped epiphyses of the toes"} {"concept_id": "C4023996", "aliases": ["Bracket shaped end part of the toe bones"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the toes"} {"concept_id": "C4023997", "aliases": ["Absent end part of the toe bones"], "types": ["T190"], "canonical_name": "Absent epiphyses of the toes", "definition": "Absence of the epiphyses of the phalanges of the toes. [HPO:sdoelken]"} {"concept_id": "C4023998", "aliases": ["Abnormality of the long bones of the toes"], "types": ["T190"], "canonical_name": "Abnormality of the phalanges of the toes"} {"concept_id": "C4023999", "aliases": ["Abnormality of the end part of the toe bones"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the toes"} {"concept_id": "C4024000", "aliases": ["Triangular end part of the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the 1st metatarsal"} {"concept_id": "C4024001", "aliases": ["Speckled calcifications in the end part of the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the 1st metatarsal"} {"concept_id": "C4024002", "aliases": ["Small end part of the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Small epiphysis of the 1st metatarsal"} {"concept_id": "C4024003", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the 1st metatarsal"} {"concept_id": "C4024004", "aliases": ["Increased bone density of end part of the 1st long bone of foot"], "types": ["T033"], "canonical_name": "Ivory epiphysis of the 1st metatarsal", "definition": "The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]"} {"concept_id": "C4024005", "aliases": ["Irregular end part of the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the 1st metatarsal"} {"concept_id": "C4024006", "aliases": ["Fragmentation of the end part of the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the 1st metatarsal"} {"concept_id": "C4024007", "aliases": ["Enlarged end part of the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the 1st metatarsal"} {"concept_id": "C4024008", "aliases": ["Cone-shaped end part of the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the 1st metatarsal", "definition": "A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot. [HPO:curators]"} {"concept_id": "C4024009", "aliases": ["Bracket shaped end part of 1st long bone of foot"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the 1st metatarsal", "definition": "The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form. [HPO:probinson]"} {"concept_id": "C4024010", "aliases": ["Absent end part of the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Absent epiphysis of the 1st metatarsal", "definition": "Failure to form (agenesis) of the epiphysis of the 1st metatarsal. [HPO:probinson]"} {"concept_id": "C4024011", "aliases": ["Triangular end part of the outermost bone of the big toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the distal phalanx of the hallux"} {"concept_id": "C4024012", "aliases": ["Speckled calcifications in the end part of the outermost bone of the big toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the distal phalanx of the hallux", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux. [HPO:curators]"} {"concept_id": "C4024013", "aliases": ["Small end part of the outermost bone of the big toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the distal phalanx of the hallux"} {"concept_id": "C4024014", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the distal phalanx of the hallux"} {"concept_id": "C4024015", "aliases": ["Increased bone density of end part of the outermost bone of the big toe"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the distal phalanx of the hallux"} {"concept_id": "C4024016", "aliases": ["Irregular end part of the outermost bone of the big toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the distal phalanx of the hallux"} {"concept_id": "C4024017", "aliases": ["Fragmentation of the end part of the outermost bone of the big toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the distal phalanx of the hallux"} {"concept_id": "C4024018", "aliases": ["Enlarged end part of the outermost bone of the big toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the distal phalanx of the hallux"} {"concept_id": "C4024019", "aliases": ["Cone-shaped end part of the outermost bone of the big toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the distal phalanx of the hallux"} {"concept_id": "C4024020", "aliases": ["Bracket shaped end part of the outermost bone of big toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the distal phalanx of the hallux", "definition": "The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. [HPO:probinson]"} {"concept_id": "C4024021", "aliases": ["Absent end part of the outermost bone of the big toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the distal phalanx of the hallux", "definition": "Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux. [HPO:probinson]"} {"concept_id": "C4024022", "aliases": ["Triangular end part of the innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the proximal phalanx of the hallux"} {"concept_id": "C4024023", "aliases": ["Speckled calcifications in the end part of the innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the proximal phalanx of the hallux", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux. [HPO:curators]"} {"concept_id": "C4024024", "aliases": ["Small end part of the innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Small epiphysis of the proximal phalanx of the hallux"} {"concept_id": "C4024025", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the proximal phalanx of the hallux", "definition": "A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe. []"} {"concept_id": "C4024026", "aliases": ["Increased bone density of end part of the innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the proximal phalanx of the hallux"} {"concept_id": "C4024027", "aliases": ["Irregular end part of the innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the proximal phalanx of the hallux"} {"concept_id": "C4024028", "aliases": ["Fragmentation of the end part of the innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the proximal phalanx of the hallux"} {"concept_id": "C4024029", "aliases": ["Enlarged end part of the innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the proximal phalanx of the hallux"} {"concept_id": "C4024030", "aliases": ["Cone-shaped end part of the innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the proximal phalanx of the hallux"} {"concept_id": "C4024031", "aliases": ["Bracket shaped end part of the innermost bone of big toe"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the proximal phalanx of the hallux", "definition": "The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. [HPO:probinson]"} {"concept_id": "C4024032", "aliases": ["Absent end part of the innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Absent epiphysis of the proximal phalanx of the hallux", "definition": "Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux. [HPO:probinson]"} {"concept_id": "C4024033", "aliases": ["Abnormality of the end part of the innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the proximal phalanx of the hallux", "definition": "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux. [HPO:curators]"} {"concept_id": "C4024034", "aliases": ["Abnormality of the end part of the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the 1st metatarsal", "definition": "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone. [HPO:curators]"} {"concept_id": "C4024035", "aliases": ["Abnormality of the end part of the outermost bone of the big toe bone"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the distal phalanx of the hallux"} {"concept_id": "C4024036", "aliases": ["Triangular end part of the big toe bone"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the hallux"} {"concept_id": "C4024037", "aliases": ["Speckled calcifications in the end part of the big toe bone"], "types": ["T190"], "canonical_name": "Stippling of the epiphyses of the hallux", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux. [HPO:curators]"} {"concept_id": "C4024038", "aliases": ["Small end part of the big toe bone"], "types": ["T190"], "canonical_name": "Small epiphyses of the hallux"} {"concept_id": "C4024039", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphyses of the hallux"} {"concept_id": "C4024040", "aliases": ["Increased bone density of end part of the big toe bone"], "types": ["T190"], "canonical_name": "Ivory epiphyses of the hallux"} {"concept_id": "C4024041", "aliases": ["Irregular end part of big toe bone"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the hallux"} {"concept_id": "C4024042", "aliases": ["Fragmentation of the end part of the big toe bone"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the hallux"} {"concept_id": "C4024043", "aliases": ["Enlarged end part of the big toe bone"], "types": ["T190"], "canonical_name": "Enlarged epiphyses of the hallux"} {"concept_id": "C4024044", "aliases": ["Cone-shaped end part of the big toe bone"], "types": ["T190"], "canonical_name": "Cone-shaped epiphyses of the hallux"} {"concept_id": "C4024045", "aliases": ["Bracket shaped end part of big toe bone"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the hallux"} {"concept_id": "C4024046", "aliases": ["Absent bone of big toe"], "types": ["T033"], "canonical_name": "Aplasia of the phalanges of the hallux"} {"concept_id": "C4024047", "aliases": ["Absent innermost bone of big toe"], "types": ["T190"], "canonical_name": "Aplasia of the proximal phalanx of the hallux"} {"concept_id": "C4024048", "aliases": ["Absent outermost bone of big toe"], "types": ["T033"], "canonical_name": "Aplasia of the distal phalanx of the hallux"} {"concept_id": "C4024049", "aliases": ["Partial duplication of the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Partial duplication of the 1st metatarsal", "definition": "A developmental defect consisting in the duplication of part of the first metatarsal bone. [HPO:probinson]"} {"concept_id": "C4024050", "aliases": ["Complete duplication of the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Complete duplication of the 1st metatarsal", "definition": "A developmental defect consisting in the complete duplication of the first metatarsal bone. [HPO:probinson]"} {"concept_id": "C4024051", "aliases": ["Complete duplication of the outermost bone of the big toe"], "types": ["T190"], "canonical_name": "Complete duplication of the distal phalanx of the hallux"} {"concept_id": "C4024052", "aliases": ["Partial duplication of the innermost bone of big toe"], "types": ["T190"], "canonical_name": "Partial duplication of the proximal phalanx of the hallux", "definition": "Partial duplication of the proximal phalanx of big toe. [HPO:sdoelken]"} {"concept_id": "C4024053", "aliases": ["Complete duplication of the innermost bone of big toe"], "types": ["T190"], "canonical_name": "Complete duplication of the proximal phalanx of the hallux", "definition": "Complete duplication of the proximal phalanx of big toe. [HPO:sdoelken]"} {"concept_id": "C4024054", "aliases": ["Duplication of the innermost bone of big toe"], "types": ["T190"], "canonical_name": "Duplication of the proximal phalanx of the hallux", "definition": "Partial or complete duplication of the proximal phalanx of big toe. [HPO:sdoelken]"} {"concept_id": "C4024055", "aliases": ["Triangular shaped innermost bone of big toe"], "types": ["T190"], "canonical_name": "Triangular shaped proximal phalanx of the hallux"} {"concept_id": "C4024056", "aliases": ["Fused innermost bone of big toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the proximal phalanx of the hallux"} {"concept_id": "C4024057", "aliases": ["Uneven increase in bone density in the innermost bone of the big toe"], "types": ["T033"], "canonical_name": "Patchy sclerosis of the proximal phalanx of the hallux"} {"concept_id": "C4024058", "aliases": [], "types": ["T033"], "canonical_name": "Osteolytic defects of the proximal phalanx of the hallux"} {"concept_id": "C4024059", "aliases": ["Curved innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Curved proximal phalanx of the hallux", "definition": "A deviation from the normal straight form of the proximal phalanx of the big toe. [HPO:probinson]"} {"concept_id": "C4024060", "aliases": ["Bullet-shaped innermost bone of the big toe"], "types": ["T190"], "canonical_name": "Bullet-shaped proximal phalanx of the hallux", "definition": "An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4024061", "aliases": ["Absent/underdeveloped innermost big toe bone", "Absent/small innermost big toe bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the proximal phalanx of the hallux"} {"concept_id": "C4024062", "aliases": ["Triangular shaped outermost bone of the big toe"], "types": ["T190"], "canonical_name": "Triangular shaped distal phalanx of the hallux"} {"concept_id": "C4024063", "aliases": ["Fused outermost bone of big toe"], "types": ["T190"], "canonical_name": "Symphalangism affecting the distal phalanx of the hallux"} {"concept_id": "C4024064", "aliases": ["Uneven increase in bone density in the outermost bone of big toe"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the distal phalanx of the hallux"} {"concept_id": "C4024065", "aliases": [], "types": ["T033"], "canonical_name": "Osteolytic defects of the distal phalanx of the hallux"} {"concept_id": "C4024066", "aliases": ["Curved outermost bone of big toe"], "types": ["T190"], "canonical_name": "Curved distal phalanx of the hallux", "definition": "A deviation from the normal straight form of the distal phalanx of the big toe. [HPO:probinson]"} {"concept_id": "C4024067", "aliases": ["Bullet-shaped outermost bone of big toe"], "types": ["T190"], "canonical_name": "Bullet-shaped distal phalanx of the hallux", "definition": "An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4024068", "aliases": ["Wide outermost bone of big toe", "Broad outermost bone of big toe"], "types": ["T190"], "canonical_name": "Broad distal phalanx of the hallux", "definition": "An increase in width of the distal phalanx of the big toe. [HPO:probinson]"} {"concept_id": "C4024069", "aliases": ["Absent/small outermost big toe bone", "Absent/underdeveloped outermost big toe bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the distal phalanx of the hallux"} {"concept_id": "C4024070", "aliases": ["Triangular shaped 1st long bone of foot"], "types": ["T190"], "canonical_name": "Triangular shaped 1st metatarsal"} {"concept_id": "C4024071", "aliases": ["Fusion involving the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Synostosis involving the 1st metatarsal"} {"concept_id": "C4024072", "aliases": ["Uneven increase in bone density of the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the 1st metatarsal"} {"concept_id": "C4024073", "aliases": [], "types": ["T047"], "canonical_name": "Osteolytic defects of the 1st metatarsal", "definition": "Dissolution or degeneration of bone tissue of the first metatarsal. [HPO:probinson]"} {"concept_id": "C4024074", "aliases": ["Curved 1st long bone of foot"], "types": ["T190"], "canonical_name": "Curved 1st metatarsal", "definition": "A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone. [HPO:probinson]"} {"concept_id": "C4024075", "aliases": ["Bullet-shaped 1st long bone of foot"], "types": ["T190"], "canonical_name": "Bullet-shaped 1st metatarsal", "definition": "An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4024076", "aliases": ["Absent/underdeveloped 1st long bone of foot", "Absent/small 1st long bone of foot"], "types": ["T033"], "canonical_name": "Aplasia/hypoplasia of the 1st metatarsal", "definition": "Absence or underdevelopment of the first metatarsal bone. [HPO:probinson]"} {"concept_id": "C4024077", "aliases": ["Triangular shaped bones of big toe"], "types": ["T190"], "canonical_name": "Triangular shaped phalanges of the hallux"} {"concept_id": "C4024078", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the phalanges of the hallux"} {"concept_id": "C4024079", "aliases": ["Absent/small big toe bone", "Absent/underdeveloped big toe bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the phalanges of the hallux"} {"concept_id": "C4024080", "aliases": ["Abnormality of the phalanges of the hallux", "Abnormal big toe bones"], "types": ["T190"], "canonical_name": "Abnormal hallux phalanx morphology"} {"concept_id": "C4024081", "aliases": ["Abnormality of the end part of the big toe bone"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the hallux"} {"concept_id": "C4024082", "aliases": ["Abnormality of the 1st long bone of foot"], "types": ["T190"], "canonical_name": "Abnormality of the first metatarsal bone", "definition": "An anomaly of the first metatarsal bone. [HPO:probinson]"} {"concept_id": "C4024083", "aliases": ["Abnormality of the outermost bone of the big toe"], "types": ["T190"], "canonical_name": "Abnormality of the distal phalanx of the hallux"} {"concept_id": "C4024084", "aliases": ["Abnormality of the proximal phalanx of the hallux", "Abnormal innermost big toe bone"], "types": ["T190"], "canonical_name": "Abnormal morphology of the proximal phalanx of the hallux", "definition": "An abnormal shape or form of the proximal phalanx of the big toe. [HPO:probinson]"} {"concept_id": "C4024085", "aliases": ["Absent/underdeveloped 5th long bone of hand", "Absent/small 5th long bone of hand"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the 5th metacarpal", "definition": "Aplasia or Hypoplasia affecting the 5th metacarpal. [HPO:curators]"} {"concept_id": "C4024086", "aliases": ["Absent 4th long bone of hand"], "types": ["T033"], "canonical_name": "Aplasia of the 4th metacarpal", "definition": "Absence of the fourth long bone of the hand. [HPO:curator]"} {"concept_id": "C4024087", "aliases": ["Absent/small 4th long bone of hand", "Absent/underdeveloped 4th long bone of hand"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the 4th metacarpal", "definition": "Aplasia or Hypoplasia affecting the 4th metacarpal. [HPO:curators]"} {"concept_id": "C4024088", "aliases": ["Absent 3rd long bone of hand"], "types": ["T033"], "canonical_name": "Aplasia of the 3rd metacarpal", "definition": "Absence of the third long bone of the hand. [HPO:curators]"} {"concept_id": "C4024089", "aliases": ["Absent/underdeveloped 3rd long bone of hand", "Absent/small 3rd long bone of hand"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the 3rd metacarpal", "definition": "Aplasia or Hypoplasia affecting the 3rd metacarpal. [HPO:curators]"} {"concept_id": "C4024090", "aliases": ["Absent 2nd long bone of hand"], "types": ["T033"], "canonical_name": "Aplasia of the 2nd metacarpal", "definition": "Absence of the second long bone of the hand. [HPO:curators]"} {"concept_id": "C4024091", "aliases": ["Absent/underdeveloped 2nd long bone of hand", "Absent/small 2nd long bone of hand"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the 2nd metacarpal", "definition": "Aplasia or Hypoplasia affecting the 2nd metacarpal. [HPO:curators]"} {"concept_id": "C4024092", "aliases": ["Triangular shaped 1st long bone of hand"], "types": ["T190"], "canonical_name": "Triangular shaped 1st metacarpal", "definition": "This term applies to a triangular shaped 1st metacarpal. [HPO:probinson]"} {"concept_id": "C4024093", "aliases": ["Uneven increase in bone density in 1st long bone of hand"], "types": ["T033"], "canonical_name": "Patchy sclerosis of the 1st metacarpal", "definition": "Uneven increase in bone density within the 1st metacarpal. [HPO:probinson]"} {"concept_id": "C4024094", "aliases": [], "types": ["T047"], "canonical_name": "Osteolytic defects of the 1st metacarpal", "definition": "Dissolution or degeneration of bone tissue of the 1st metacarpal. [HPO:probinson]"} {"concept_id": "C4024095", "aliases": ["Curved 1st long bone of hand"], "types": ["T190"], "canonical_name": "Curved 1st metacarpal", "definition": "A deviation from the normal straight shape of the first metacarpal. [HPO:probinson]"} {"concept_id": "C4024096", "aliases": ["Bullet-shaped 1st long bone of hand"], "types": ["T190"], "canonical_name": "Bullet-shaped 1st metacarpal", "definition": "The presence of short and wide 1st metacarpal which tapers distally (bullet shaped\").\" [HPO:probinson]"} {"concept_id": "C4024097", "aliases": ["Wide 1st long bone of hand"], "types": ["T033"], "canonical_name": "Broad 1st metacarpal", "definition": "Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]"} {"concept_id": "C4024098", "aliases": ["Absent/small 1st long bone of hand", "Absent/underdeveloped 1st long bone of hand"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the 1st metacarpal", "definition": "Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). [HPO:curators]"} {"concept_id": "C4024099", "aliases": ["Triangular end part of the 1st long bone of hand"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the 1st metacarpal"} {"concept_id": "C4024100", "aliases": ["Small end part of the 1st long bone of hand"], "types": ["T190"], "canonical_name": "Small epiphysis of the 1st metacarpal", "definition": "Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms. [HPO:probinson]"} {"concept_id": "C4024101", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the 1st metacarpal", "definition": "The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal. [HPO:probinson]"} {"concept_id": "C4024102", "aliases": ["Increased bone density of end part of the 1st long bone of hand"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the 1st metacarpal", "definition": "The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]"} {"concept_id": "C4024103", "aliases": ["Irregular end part of the 1st long bone of hand"], "types": ["T033"], "canonical_name": "Irregular epiphysis of the 1st metacarpal", "definition": "Uneven radiographic opacity of the epiphysis of the 1st metacarpal. [HPO:probinson]"} {"concept_id": "C4024104", "aliases": ["Fragmentation of the end part of the 1st long bone of hand"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the 1st metacarpal", "definition": "Epiphysis of the 1st metacarpal having multiple bony fragments. [HPO:probinson]"} {"concept_id": "C4024105", "aliases": ["Enlarged end part of the 1st long bone of hand"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the 1st metacarpal", "definition": "Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms. [HPO:probinson]"} {"concept_id": "C4024106", "aliases": ["Cone-shaped end part of the 1st long bone of hand"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the 1st metacarpal", "definition": "A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance. [HPO:probinson]"} {"concept_id": "C4024107", "aliases": ["Bracket shaped end part of 1st long bone of hand"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the 1st metacarpal", "definition": "An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate. [HPO:probinson, PMID:24432108]"} {"concept_id": "C4024108", "aliases": ["Absent end part of the 1st long bone of hand"], "types": ["T190"], "canonical_name": "Absent epiphysis of the 1st metacarpal"} {"concept_id": "C4024109", "aliases": ["Abnormality of the end part of the 1st long bone of hand"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the 1st metacarpal", "definition": "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays. [HPO:curators]"} {"concept_id": "C4024110", "aliases": ["Abnormality of the 5th metacarpal", "Abnormality of the 5th long bone of hand"], "types": ["T190"], "canonical_name": "Abnormal 5th metacarpal morphology", "definition": "Any abnormality of the fifth metacarpal bone. [HPO:curators]"} {"concept_id": "C4024111", "aliases": ["Abnormality of the 4th metacarpal", "Abnormality of the 4th long bone of hand"], "types": ["T190"], "canonical_name": "Abnormal 4th metacarpal morphology", "definition": "Any abnormality of the fourth metacarpal bone. [HPO:curators]"} {"concept_id": "C4024112", "aliases": ["Abnormality of the 3rd long bone of hand", "Abnormality of the 3rd metacarpal"], "types": ["T190"], "canonical_name": "Abnormal 3rd metacarpal morphology", "definition": "Any abnormality of the third metacarpal bone. [HPO:curators]"} {"concept_id": "C4024113", "aliases": ["Abnormality of the 2nd long bone of hand", "Abnormality of the 2nd metacarpal"], "types": ["T190"], "canonical_name": "Abnormal 2nd metacarpal morphology", "definition": "Any abnormality of the second metacarpal bone. [HPO:curators]"} {"concept_id": "C4024114", "aliases": ["Abnormality of the 1st long bone of hand", "Abnormality of the 1st metacarpal"], "types": ["T190"], "canonical_name": "Abnormal 1st metacarpal morphology", "definition": "A structural anomaly of the first metacarpal. [HPO:probinson]"} {"concept_id": "C4024115", "aliases": ["Partial duplication of the middle bones of hand"], "types": ["T190"], "canonical_name": "Partial duplication of the middle phalanges of the hand", "definition": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]"} {"concept_id": "C4024116", "aliases": ["Partial duplication of the innermost bones of the hand"], "types": ["T190"], "canonical_name": "Partial duplication of the proximal phalanges of the hand", "definition": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]"} {"concept_id": "C4024117", "aliases": ["Complete duplication of the middle bones of the hand"], "types": ["T190"], "canonical_name": "Complete duplication of the middle phalanges of the hand", "definition": "A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism. [HPO:sdoelken]"} {"concept_id": "C4024118", "aliases": ["Complete duplication of the outermost bones of the hand"], "types": ["T019"], "canonical_name": "Complete duplication of the distal phalanges of the hand", "definition": "A complete duplication affecting one or more of the distal phalanges of the hand. [HPO:sdoelken]"} {"concept_id": "C4024119", "aliases": ["Complete duplication of the innermost bones of the hand"], "types": ["T190"], "canonical_name": "Complete duplication of the proximal phalanges of the hand", "definition": "A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:curators]"} {"concept_id": "C4024120", "aliases": ["Partial duplication of hand bones"], "types": ["T190"], "canonical_name": "Partial duplication of the phalanx of hand", "definition": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]"} {"concept_id": "C4024121", "aliases": ["Complete duplication of hand bones"], "types": ["T190"], "canonical_name": "Complete duplication of phalanx of hand", "definition": "A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:curators]"} {"concept_id": "C4024122", "aliases": ["Partial duplication of the innermost pinkie finger bone", "Partial duplication of the innermost little finger bone", "Partial duplication of the innermost pinky finger bone"], "types": ["T190"], "canonical_name": "Partial duplication of the proximal phalanx of the 5th finger", "definition": "Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]"} {"concept_id": "C4024123", "aliases": ["Partial duplication of the middle pinky finger bone", "Partial duplication of the middle pinkie finger bone", "Partial duplication of the middle little finger bone"], "types": ["T190"], "canonical_name": "Partial duplication of the middle phalanx of the 5th finger", "definition": "Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]"} {"concept_id": "C4024124", "aliases": ["Complete duplication of the innermost pinkie finger bone", "Complete duplication of the innermost pinky finger bone", "Complete duplication of the innermost little finger bone"], "types": ["T190"], "canonical_name": "Complete duplication of the proximal phalanx of the 5th finger", "definition": "Complete duplication of the fifth proximal phalanx of hand. [HPO:probinson]"} {"concept_id": "C4024125", "aliases": ["Complete duplication of the middle pinky finger bone", "Complete duplication of the middle pinkie finger bone", "Complete duplication of the middle little finger bone"], "types": ["T190"], "canonical_name": "Complete duplication of the middle phalanx of the 5th finger", "definition": "Complete duplication of the fifth middle phalanx of hand. [HPO:probinson]"} {"concept_id": "C4024126", "aliases": ["Complete duplication of the outermost pinkie finger bone", "Complete duplication of the outermost little finger bone", "Complete duplication of the outermost pinky finger bone"], "types": ["T190"], "canonical_name": "Complete duplication of the distal phalanx of the 5th finger", "definition": "Complete duplication of the distal phalanx of little finger. [HPO:probinson]"} {"concept_id": "C4024127", "aliases": ["Partial duplication of the pinky finger bone", "Partial duplication of the little finger bone", "Partial duplication of the pinkie finger bone"], "types": ["T190"], "canonical_name": "Partial duplication of the phalanges of the 5th finger", "definition": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]"} {"concept_id": "C4024128", "aliases": ["Complete duplication of the pinkie finger bone", "Complete duplication of the pinky finger bone", "Complete duplication of the little finger bone"], "types": ["T190"], "canonical_name": "Complete duplication of the phalanges of the 5th finger", "definition": "A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:curators]"} {"concept_id": "C4024129", "aliases": ["Partial duplication of the innermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Partial duplication of the proximal phalanx of the 4th finger", "definition": "Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]"} {"concept_id": "C4024130", "aliases": ["Partial duplication of the middle bone of the ring finger"], "types": ["T019"], "canonical_name": "Partial duplication of the middle phalanx of the 4th finger", "definition": "Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]"} {"concept_id": "C4024131", "aliases": ["Complete duplication of the proximal bone of the ring finger"], "types": ["T190"], "canonical_name": "Complete duplication of the proximal phalanx of the 4th finger", "definition": "Complete duplication of the fourth proximal phalanx of hand. [HPO:probinson]"} {"concept_id": "C4024132", "aliases": ["Complete duplication of the middle bone of the ring finger"], "types": ["T190"], "canonical_name": "Complete duplication of the middle phalanx of the 4th finger", "definition": "Complete duplication of the middle phalanx of ring finger. [HPO:probinson]"} {"concept_id": "C4024133", "aliases": ["Complete duplication of the outermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Complete duplication of the distal phalanx of the 4th finger", "definition": "Complete duplication of the distal phalanx of ring finger. [HPO:probinson]"} {"concept_id": "C4024134", "aliases": ["Partial duplication of the bones of the ring finger"], "types": ["T190"], "canonical_name": "Partial duplication of the phalanges of the 4th finger", "definition": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]"} {"concept_id": "C4024135", "aliases": ["Complete duplication of the bones of the ring finger"], "types": ["T190"], "canonical_name": "Complete duplication of the phalanges of the 4th finger", "definition": "A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:curators]"} {"concept_id": "C4024136", "aliases": ["Extra ring finger"], "types": ["T019"], "canonical_name": "Polydactyly affecting the 4th finger"} {"concept_id": "C4024137", "aliases": ["Partial duplication of the proximal bone of the middle finger"], "types": ["T190"], "canonical_name": "Partial duplication of the proximal phalanx of the 3rd finger", "definition": "Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]"} {"concept_id": "C4024138", "aliases": ["Partial duplication of the middle bone of the 3rd finger"], "types": ["T190"], "canonical_name": "Partial duplication of the middle phalanx of the 3rd finger", "definition": "Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]"} {"concept_id": "C4024139", "aliases": ["Complete duplication of the innermost bone of the 3rd finger"], "types": ["T190"], "canonical_name": "Complete duplication of the proximal phalanx of the 3rd finger", "definition": "Complete duplication of the third proximal phalanx of hand. [HPO:probinson]"} {"concept_id": "C4024140", "aliases": ["Complete duplication of the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Complete duplication of the middle phalanx of the 3rd finger", "definition": "Complete duplication of the middle phalanx of middle finger. [HPO:probinson]"} {"concept_id": "C4024141", "aliases": ["Complete duplication of the outermost bone of the 3rd finger"], "types": ["T190"], "canonical_name": "Complete duplication of the distal phalanx of the 3rd finger", "definition": "Complete duplication of the distal phalanx of middle finger [HPO:probinson]"} {"concept_id": "C4024142", "aliases": ["Partial duplication of middle finger bones"], "types": ["T190"], "canonical_name": "Partial duplication of the phalanges of the 3rd finger", "definition": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]"} {"concept_id": "C4024143", "aliases": ["Complete duplication of middle finger bones"], "types": ["T190"], "canonical_name": "Complete duplication of the phalanges of the 3rd finger", "definition": "A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:curators]"} {"concept_id": "C4024144", "aliases": ["Extra middle finger"], "types": ["T019"], "canonical_name": "Polydactyly affecting the 3rd finger"} {"concept_id": "C4024145", "aliases": ["Complete duplication of the bones of the index finger"], "types": ["T019"], "canonical_name": "Complete duplication of the phalanges of the 2nd finger", "definition": "A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:curators]"} {"concept_id": "C4024146", "aliases": ["Partial duplication of the bones of the index finger"], "types": ["T190"], "canonical_name": "Partial duplication of the phalanges of the 2nd finger", "definition": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]"} {"concept_id": "C4024147", "aliases": ["Partial duplication of the proximal bones of the index finger"], "types": ["T190"], "canonical_name": "Partial duplication of the proximal phalanx of the 2nd finger", "definition": "Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]"} {"concept_id": "C4024148", "aliases": ["Complete duplication of the proximal bone of the index finger"], "types": ["T019"], "canonical_name": "Complete duplication of the proximal phalanx of the 2nd finger", "definition": "Complete duplication of the second proximal phalanx of hand. [HPO:probinson]"} {"concept_id": "C4024149", "aliases": ["Partial duplication of the middle bone of the index finger"], "types": ["T190"], "canonical_name": "Partial duplication of the middle phalanx of the 2nd finger", "definition": "Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]"} {"concept_id": "C4024150", "aliases": ["Complete duplication of the middle bone of the index finger"], "types": ["T190"], "canonical_name": "Complete duplication of the middle phalanx of the 2nd finger", "definition": "Complete duplication of the middle phalanx of index finger. [HPO:probinson]"} {"concept_id": "C4024151", "aliases": ["Complete duplication of the outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Complete duplication of the distal phalanx of the 2nd finger", "definition": "Complete duplication of the distal phalanx of index finger. [HPO:probinson]"} {"concept_id": "C4024152", "aliases": ["Extra index finger"], "types": ["T190"], "canonical_name": "Polydactyly affecting the 2nd finger"} {"concept_id": "C4024153", "aliases": ["Crooked mouth", "Asymmetry of the mouth", "Canted mouth", "Uneven mouth", "Asymmetry of oral cavity", "Tilted mouth"], "types": ["T033"], "canonical_name": "Asymmetry of the mouth", "definition": "The presence of an asymmetric mouth. [HPO:probinson]"} {"concept_id": "C4024154", "aliases": ["Sunken cheeks", "Hollow cheeks", "Depressed cheeks"], "types": ["T033"], "canonical_name": "Sunken cheeks", "definition": "Lack or loss of the soft tissues between the zygomata and mandible. [PMID:19125436]"} {"concept_id": "C4024155", "aliases": ["Narrow nasal septum", "Decreased width of nasal septum", "Thin nasal septum", "Thin septum of nose", "Narrow septum of nose"], "types": ["T190"], "canonical_name": "Narrow nasal septum", "definition": "Abnormally narrow nasal septum. [HPO:probinson]"} {"concept_id": "C4024156", "aliases": ["Underdevelopment of nasal septum", "Ageneis of nasal septum", "Failure of development of nasal septum"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the nasal septum", "definition": "Absence or underdevelopment of the nasal septum. [HPO:curators]"} {"concept_id": "C4024157", "aliases": ["Uneven nostril shape", "Uneven nostril size", "Asymmetry of nostrils", "Unequal nostril size", "Unequal nostril shape", "Crooked nostrils"], "types": ["T190"], "canonical_name": "Asymmetry of the nares", "definition": "Asymmetry or size difference between the left and right nostril. [HPO:probinson]"} {"concept_id": "C4024158", "aliases": ["Deformity of the columella", "Malformation of the columella", "Anomaly of the columella"], "types": ["T190"], "canonical_name": "Abnormality of the columella", "definition": "An abnormality of the columella. [HPO:curators]"} {"concept_id": "C4024159", "aliases": ["Decreased nasal size", "Decreased size of nose"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia involving the nose", "definition": "Underdevelopment or absence of the nose or parts thereof. [HPO:curators]"} {"concept_id": "C4024160", "aliases": ["Persistence of the hyaloid artery", "Persistent hyaloid artery"], "types": ["T190"], "definition": "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. [HPO:probinson, PMID:23772130]", "canonical_name": "Vascular remnant arising from the disc"} {"concept_id": "C4024161", "aliases": ["Absent/underdeveloped tragus", "Absent/small tragus"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the tragus", "definition": "Aplasia or developmental hypoplasia of the tragus. [HPO:probinson]"} {"concept_id": "C4024162", "aliases": ["Abnormality of the tragus"], "types": ["T190"], "canonical_name": "Abnormal tragus morphology", "definition": "An abnormality of the tragus. [HPO:probinson]"} {"concept_id": "C4024163", "aliases": ["Abnormality of the temporal bone"], "types": ["T190"], "canonical_name": "Abnormal temporal bone morphology", "definition": "Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple. [HPO:probinson]"} {"concept_id": "C4024164", "aliases": [], "types": ["T190"], "canonical_name": "Thin ear helix", "definition": "Decreased thickness of the helix of the ear. [HPO:probinson]"} {"concept_id": "C4024165", "aliases": [], "types": ["T033"], "canonical_name": "Prominent ear helix", "definition": "Abnormally prominent ear helix. [HPO:probinson]"} {"concept_id": "C4024166", "aliases": ["Crumpled ear"], "types": ["T033"], "canonical_name": "Crumpled ear", "definition": "Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. [PMID:19152421]"} {"concept_id": "C4024168", "aliases": ["Thickened ears"], "types": ["T190"], "canonical_name": "Thickened ears", "definition": "Increased thickness of the external ear. []"} {"concept_id": "C4024169", "aliases": [], "types": ["T033"], "canonical_name": "Telangiectasia of the ear", "definition": "The presence of telangiectasia of the ear. [HPO:probinson]"} {"concept_id": "C4024170", "aliases": ["Localized abnormal hair growth", "Localised abnormal hair growth", "Localised hirsutism"], "types": ["T033"], "canonical_name": "Localized hirsutism", "definition": "Abnormally increased hair growth with a localized distribution. [HPO:curators]"} {"concept_id": "C4024171", "aliases": ["Abnormality of secondary sexual hair"], "types": ["T033"], "canonical_name": "Abnormality of secondary sexual hair", "definition": "Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. [HPO:curators]"} {"concept_id": "C4024172", "aliases": ["Abnormality of hair colour", "Abnormality of hair pigmentation", "Abnormality of hair color"], "types": ["T033"], "canonical_name": "Abnormality of hair pigmentation", "definition": "An abnormality of hair pigmentation (color). [HPO:curators]"} {"concept_id": "C4024173", "aliases": ["Aplasia of outermost hand bone", "Absent outermost hand bone", "Absent distal phalanges of the hand"], "types": ["T033"], "canonical_name": "Aplasia of the distal phalanges of the hand"} {"concept_id": "C4024174", "aliases": ["Broad outermost hand bones"], "types": ["T190"], "canonical_name": "Broad distal phalanges of all fingers", "definition": "Abnormally wide (broad) distal phalanx of finger of all fingers. [HPO:probinson]"} {"concept_id": "C4024175", "aliases": [], "types": ["T033"], "canonical_name": "Cerebellar ataxia associated with quadrupedal gait", "definition": "The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight). [HPO:curators]"} {"concept_id": "C4024176", "aliases": ["Triangular shaped outermost bone of the hand"], "types": ["T190"], "canonical_name": "Triangular shaped distal phalanges of the hand"} {"concept_id": "C4024177", "aliases": ["Triangular shaped innermost finger bone"], "types": ["T033"], "canonical_name": "Triangular shaped proximal phalanges of the hand"} {"concept_id": "C4024178", "aliases": ["Fused innermost hand bones"], "types": ["T190"], "canonical_name": "Symphalangism affecting the proximal phalanges of the hand"} {"concept_id": "C4024179", "aliases": ["Curved innermost finger bones of the hand"], "types": ["T190"], "canonical_name": "Curved proximal phalanges of the hand"} {"concept_id": "C4024180", "aliases": ["Bullet-shaped innermost finger bones of the hand"], "types": ["T190"], "canonical_name": "Bullet-shaped proximal phalanges of the hand", "definition": "Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:curators]"} {"concept_id": "C4024181", "aliases": ["Broad innermost finger bones of the hand", "Wide innermost finger bones of the hand"], "types": ["T190"], "canonical_name": "Broad proximal phalanges of the hand", "definition": "Increased width of the proximal phalanges of the finger. [HPO:probinson]"} {"concept_id": "C4024182", "aliases": ["Absent/underdeveloped innermost finger bones of the hand", "Absent/small innermost finger bones of the hand"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the proximal phalanges of the hand"} {"concept_id": "C4024183", "aliases": ["Triangular shaped middle finger bones of the hand"], "types": ["T190"], "canonical_name": "Triangular shaped middle phalanges of the hand"} {"concept_id": "C4024184", "aliases": ["Fused middle finger bone"], "types": ["T190"], "canonical_name": "Symphalangism of middle phalanx of finger", "definition": "Fusion of a middle phalanx of a finger with another bone. [HPO:probinson]"} {"concept_id": "C4024185", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the middle phalanges of the hand"} {"concept_id": "C4024186", "aliases": ["Curved middle finger bonds of the hand"], "types": ["T190"], "canonical_name": "Curved middle phalanges of the hand"} {"concept_id": "C4024187", "aliases": [], "types": ["T190"], "canonical_name": "Bullet-shaped middle phalanges of the hand", "definition": "Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4024188", "aliases": ["Curved outermost finger bone of the hand"], "types": ["T190"], "canonical_name": "Curved distal phalanges of the hand"} {"concept_id": "C4024189", "aliases": ["Bullet-shaped outermost finger bone of the hand"], "types": ["T190"], "canonical_name": "Bullet-shaped distal phalanges of the hand", "definition": "Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. []"} {"concept_id": "C4024190", "aliases": ["Abnormality of the proximal phalanges of the hand", "Abnormality of the innermost finger bones of the hand"], "types": ["T190"], "canonical_name": "Abnormal proximal phalanx morphology of the hand"} {"concept_id": "C4024191", "aliases": ["Abnormality of the middle finger bones of the hand", "Abnormality of the middle phalanges of the hand"], "types": ["T190"], "canonical_name": "Abnormal middle phalanx morphology of the hand", "definition": "An anomaly of middle phalanx of finger. [HPO:probinson]"} {"concept_id": "C4024192", "aliases": [], "types": ["T190"], "canonical_name": "Peromelia", "definition": "The distal parts of the limbs are missing leading to a stump formation. [HPO:probinson]"} {"concept_id": "C4024193", "aliases": ["Absent bones of the extremities"], "types": ["T033"], "canonical_name": "Aplasia involving bones of the extremities"} {"concept_id": "C4024194", "aliases": ["Absent bones of the upper limbs"], "types": ["T033"], "canonical_name": "Aplasia involving bones of the upper limbs"} {"concept_id": "C4024195", "aliases": ["Absent forearm bones"], "types": ["T033"], "canonical_name": "Aplasia involving forearm bones"} {"concept_id": "C4024196", "aliases": [], "types": ["T190"], "canonical_name": "Lower limb peromelia", "definition": "Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation. [HPO:sdoelken]"} {"concept_id": "C4024197", "aliases": [], "types": ["T019"], "canonical_name": "Amelia involving the lower limbs", "definition": "Amelia of one or both legs. [HPO:curators]"} {"concept_id": "C4024198", "aliases": ["Absent bones of the lower limbs"], "types": ["T033"], "canonical_name": "Aplasia involving bones of the lower limbs"} {"concept_id": "C4024199", "aliases": [], "types": ["T019"], "canonical_name": "Upper limb peromelia", "definition": "Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation. [HPO:sdoelken]"} {"concept_id": "C4024200", "aliases": [], "types": ["T019"], "canonical_name": "Amelia involving the upper limbs", "definition": "Amelia of one or both upper limbs. [HPO:curators]"} {"concept_id": "C4024201", "aliases": [], "types": ["T047"], "canonical_name": "Low-output congestive heart failure", "definition": "A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes. [HPO:curators]"} {"concept_id": "C4024202", "aliases": ["Reduced number of teeth", "Decreased tooth count", "Fewer teeth than normal", "Failure of development of some teeth", "Missing some teeth", "Teeth, agenesis", "Tooth agenesis", "Decreased number of teeth"], "types": ["T033"], "definition": "The absence of one or more teeth from the normal series by a failurento develop [HPO:sdoelken, PMID:31468724]", "canonical_name": "Dental agenesis"} {"concept_id": "C4024203", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia of the phalanges of the hand", "definition": "Absence of one or more of the phalanges of the hand. [HPO:curators]"} {"concept_id": "C4024204", "aliases": [], "types": ["T019"], "canonical_name": "Bifid sacrum", "definition": "Presence of a bifid sacral bone. [HPO:probinson]"} {"concept_id": "C4024206", "aliases": ["Absent/small quadriceps", "Absent/underdeveloped quadriceps"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the quadriceps", "definition": "Absence or underdevelopment of the quadriceps muscle. [HPO:curators]"} {"concept_id": "C4024207", "aliases": ["Absent/underdeveloped thigh muscles", "Absent/small thigh muscles"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the musculature of the thigh", "definition": "Absence or underdevelopment involving the musculature of the thigh. [HPO:curators]"} {"concept_id": "C4024208", "aliases": ["Absent/small triceps", "Absent/underdeveloped triceps"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the triceps", "definition": "Absence or underdevelopment of the triceps muscle. [HPO:curators]"} {"concept_id": "C4024209", "aliases": ["Absent/small biceps", "Absent/underdeveloped biceps"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the biceps", "definition": "Absence or underdevelopment of the biceps muscle. [HPO:curators]"} {"concept_id": "C4024210", "aliases": [], "types": ["T033"], "canonical_name": "Lester's sign", "definition": "A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. [HPO:probinson]"} {"concept_id": "C4024211", "aliases": ["Curved hand bones"], "types": ["T190"], "canonical_name": "Curved phalanges of the hand"} {"concept_id": "C4024212", "aliases": [], "types": ["T190"], "canonical_name": "Pyramidal skinfold extending from the base to the top of the nails", "definition": "Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome. [HPO:curators]"} {"concept_id": "C4024213", "aliases": ["Absent pectoralis major muscle"], "types": ["T190"], "canonical_name": "Aplasia of the pectoralis major muscle", "definition": "Absence of the pectoralis major muscle. [HPO:curators]"} {"concept_id": "C4024214", "aliases": ["Abnormality of the spinal dura mater"], "types": ["T190"], "canonical_name": "Abnormal spinal dura mater morphology", "definition": "An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord. [HPO:curators]"} {"concept_id": "C4024215", "aliases": ["Underdevelopment of parotid gland", "Abnormally small parotid gland"], "types": ["T190"], "canonical_name": "Aplasia of the parotid gland", "definition": "Absence of the parotid gland. [HPO:curators]"} {"concept_id": "C4024216", "aliases": ["Tibial pseudoarthrosis"], "types": ["T046"], "canonical_name": "Tibial pseudarthrosis", "definition": "Pseudarthrosis, or false joint\" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.\" [HPO:probinson, PMID:30996736]"} {"concept_id": "C4024217", "aliases": [], "types": ["T191"], "canonical_name": "Spinal neurofibromas", "definition": "Neurofibromas originating in the spine. [HPO:probinson]"} {"concept_id": "C4024218", "aliases": ["Cerebral hamartomata"], "types": ["T191"], "canonical_name": "Cerebral hamartoma", "definition": "The presence of a hamartoma of the cerebrum. [HPO:probinson]"} {"concept_id": "C4024219", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the subungual region", "definition": "A lesion located beneath a fingernail or toenail. [HPO:curators]"} {"concept_id": "C4024220", "aliases": ["Hypomelanotic macules"], "types": ["T033"], "canonical_name": "Hypomelanotic macule", "definition": "Hypomelanotic macules (ash leaf spots\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.\" [HPO:probinson, PMID:10695583]"} {"concept_id": "C4024221", "aliases": [], "types": ["T191"], "canonical_name": "Papillary cystadenoma of the epididymis", "definition": "A cystadenoma, an epithelial tumor, that originates within the head of the epididymis. [HPO:probinson, PMID:24441657]"} {"concept_id": "C4024222", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the epididymis", "definition": "An abnormality of the epididymis. [HPO:probinson]"} {"concept_id": "C4024223", "aliases": [], "types": ["T191"], "canonical_name": "Spinal hemangioblastoma", "definition": "A hemangioblastoma that arises from the spinal cord. It may be associated with von Hippel-Lindau disease."} {"concept_id": "C4024225", "aliases": ["Fusion involving the 5th long bone of hand"], "types": ["T190"], "canonical_name": "Synostosis involving the 5th metacarpal"} {"concept_id": "C4024226", "aliases": ["Fusion involving the 4th long bone of hand"], "types": ["T190"], "canonical_name": "Synostosis involving the 4th metacarpal"} {"concept_id": "C4024227", "aliases": ["Fusion involving the 3rd long bone of hand"], "types": ["T190"], "canonical_name": "Synostosis involving the 3rd metacarpal"} {"concept_id": "C4024228", "aliases": ["Fusion involving the 2nd long bone of hand"], "types": ["T190"], "canonical_name": "Synostosis involving the 2nd metacarpal"} {"concept_id": "C4024229", "aliases": ["Chronic cerebrospinal fluid lymphocytosis"], "types": ["T033"], "canonical_name": "Chronic CSF lymphocytosis", "definition": "Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter. [HPO:probinson]"} {"concept_id": "C4024230", "aliases": [], "types": ["T033"], "canonical_name": "Contracture of the distal interphalangeal joint of the fingers", "definition": "Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers. [HPO:probinson]"} {"concept_id": "C4024231", "aliases": ["Triangular end part of the thumb bone"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the thumb"} {"concept_id": "C4024232", "aliases": ["Bracket shaped end part of the thumb bone"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the thumb", "definition": "An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024233", "aliases": [], "types": ["T190"], "canonical_name": "Absent epiphyses of the thumb", "definition": "Absence of one or more epiphyses of the thumb. [HPO:curators]"} {"concept_id": "C4024234", "aliases": ["Triangular end part of thumb outermost bone", "Triangular epiphysis of the outermost bone of the thumb"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the distal phalanx of the thumb", "definition": "A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]"} {"concept_id": "C4024235", "aliases": ["Speckled calcifications in the end part of the outermost thumb bone"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the distal phalanx of the thumb", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb. [HPO:probinson]"} {"concept_id": "C4024236", "aliases": ["Small end part of thumb outermost bone"], "types": ["T190"], "canonical_name": "Small epiphysis of the distal phalanx of the thumb", "definition": "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. [HPO:probinson]"} {"concept_id": "C4024237", "aliases": ["Pseudoepiphysis of the outermost bone of the thumb"], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the distal phalanx of the thumb", "definition": "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb. [HPO:probinson]"} {"concept_id": "C4024238", "aliases": ["Increased bone density of end part of the outermost bone of the thumb"], "types": ["T033"], "canonical_name": "Ivory epiphysis of the distal phalanx of the thumb", "definition": "Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:probinson]"} {"concept_id": "C4024239", "aliases": ["Irregular end part of thumb outermost bone"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the distal phalanx of the thumb", "definition": "Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb. [HPO:probinson]"} {"concept_id": "C4024240", "aliases": ["Fragmentation of end part thumb outermost long bone"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the distal phalanx of the thumb", "definition": "Epiphysis of the distal phalanx of the thumb having multiple bony fragments. [HPO:probinson]"} {"concept_id": "C4024241", "aliases": ["Bracket shaped end part of thumb outermost long bone"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the distal phalanx of the thumb", "definition": "An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:probinson]"} {"concept_id": "C4024242", "aliases": ["Absent end part of thumb outermost long bone"], "types": ["T190"], "canonical_name": "Absent epiphysis of the distal phalanx of the thumb", "definition": "Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb. [HPO:curators]"} {"concept_id": "C4024243", "aliases": ["Triangular end part of thumb innermost long bone"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the proximal phalanx of the thumb", "definition": "A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]"} {"concept_id": "C4024244", "aliases": ["Speckled calcifications in end part of thumb innermost long bone"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the proximal phalanx of the thumb", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:probinson]"} {"concept_id": "C4024245", "aliases": ["Small end part of thumb innermost long bone"], "types": ["T190"], "canonical_name": "Small epiphysis of the proximal phalanx of the thumb", "definition": "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. [HPO:probinson]"} {"concept_id": "C4024246", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the proximal phalanx of the thumb", "definition": "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb. [HPO:probinson]"} {"concept_id": "C4024247", "aliases": ["Increased bone density of end part of the innermost bone of the thumb"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the proximal phalanx of the thumb", "definition": "Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:probinson]"} {"concept_id": "C4024248", "aliases": ["Irregular end part of thumb innermost long bone"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the proximal phalanx of the thumb", "definition": "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]"} {"concept_id": "C4024249", "aliases": ["Fragmentation of end part of thumb innermost long bone"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the proximal phalanx of the thumb", "definition": "Epiphysis of the proximal phalanx of the thumb having multiple bony fragments. [HPO:probinson]"} {"concept_id": "C4024250", "aliases": ["Enlarged end part of thumb innermost long bone"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the proximal phalanx of the thumb", "definition": "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]"} {"concept_id": "C4024251", "aliases": ["Cone-shaped end part of thumb innermost long bone"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the proximal phalanx of the thumb", "definition": "A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:probinson]"} {"concept_id": "C4024252", "aliases": ["Bracket shaped end part of thumb innermost long bone"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the proximal phalanx of the thumb", "definition": "An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:probinson]"} {"concept_id": "C4024253", "aliases": ["Absent end part of thumb innermost long bone"], "types": ["T190"], "canonical_name": "Absent epiphysis of the proximal phalanx of the thumb", "definition": "Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]"} {"concept_id": "C4024254", "aliases": ["Abnormality of end part of thumb innermost long bone"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the proximal phalanx of the thumb", "definition": "This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]"} {"concept_id": "C4024255", "aliases": ["Partial absence of thumb"], "types": ["T190"], "canonical_name": "Partial absence of thumb", "definition": "The absence of a phalangeal segment of a thumb. [PMID:probinson]"} {"concept_id": "C4024256", "aliases": ["Absent/small thumb bones", "Absent/underdeveloped thumb bones"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the phalanges of the thumb"} {"concept_id": "C4024257", "aliases": ["Triangular shaped outermost bone of the thumb"], "types": ["T190"], "canonical_name": "Triangular shaped distal phalanx of the thumb", "definition": "Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:probinson]"} {"concept_id": "C4024258", "aliases": ["Uneven increase in bone density in the outermost bone of the thumb"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the distal phalanx of the thumb", "definition": "An uneven increase in bone density of the distal phalanx of the thumb. [HPO:probinson]"} {"concept_id": "C4024259", "aliases": ["Curved outermost bone of the thumb"], "types": ["T190"], "canonical_name": "Curved distal phalanx of the thumb", "definition": "A deviation from the normal straight shape of the distal phalanx of the thumb. [HPO:probinson]"} {"concept_id": "C4024260", "aliases": ["Bullet-shaped outermost bone of the thumb"], "types": ["T190"], "canonical_name": "Bullet-shaped distal phalanx of the thumb", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected. [HPO:probinson]"} {"concept_id": "C4024261", "aliases": ["Absent/underdeveloped outermost thumb bone", "Absent/small outermost thumb bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the distal phalanx of the thumb"} {"concept_id": "C4024262", "aliases": ["Ankylosis of the metacarpophalangeal joint of the thumb", "Fusion of the innermost bone of the thumb with the 1st long bone of hand"], "types": ["T190"], "canonical_name": "Synostosis of the proximal phalanx of the thumb with the 1st metacarpal", "definition": "Fusion of the proximal phalanx of the thumb with the 1st metacarpal. [HPO:probinson, PMID:26571461]"} {"concept_id": "C4024263", "aliases": ["Fusion of thumb bone"], "types": ["T190"], "canonical_name": "Synostosis of thumb phalanx", "definition": "Fusion of a phalanx of the thumb with another bone. [HPO:probinson]"} {"concept_id": "C4024264", "aliases": ["Uneven increase in bone density in the innermost thumb bone"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the proximal phalanx of the thumb", "definition": "An uneven increase in bone density of the proximal phalanx of the thumb. [HPO:probinson]"} {"concept_id": "C4024265", "aliases": ["Curved innermost thumb bone"], "types": ["T190"], "canonical_name": "Curved proximal phalanx of the thumb", "definition": "A deviation from the normal straight shape of the proximal phalanx of the thumb. [HPO:probinson]"} {"concept_id": "C4024266", "aliases": ["Bullet-shaped innermost thumb bone"], "types": ["T190"], "canonical_name": "Bullet-shaped proximal phalanx of the thumb", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected. [HPO:probinson]"} {"concept_id": "C4024267", "aliases": ["Broad innermost thumb bone"], "types": ["T190"], "canonical_name": "Broad proximal phalanx of the thumb", "definition": "Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]"} {"concept_id": "C4024268", "aliases": ["Absent/underdeveloped innermost thumb bone", "Absent/small innermost thumb bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the proximal phalanx of the thumb", "definition": "This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]"} {"concept_id": "C4024269", "aliases": [], "types": ["T190"], "canonical_name": "Contractures of the carpometacarpal joint of the thumb", "definition": "Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint. [HPO:probinson]"} {"concept_id": "C4024270", "aliases": [], "types": ["T190"], "canonical_name": "Distally placed thumb", "definition": "Insertion of thumb at a more distal location than normal. [HPO:probinson]"} {"concept_id": "C4024271", "aliases": ["Complete duplication of the first long bone of hand"], "types": ["T190"], "canonical_name": "Complete duplication of the first metacarpal", "definition": "Complete duplication of the first metacarpal bone. [HPO:probinson]"} {"concept_id": "C4024272", "aliases": ["Notched thumb bone"], "types": ["T019"], "canonical_name": "Bifid proximal phalanx of the thumb", "definition": "This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:probinson]"} {"concept_id": "C4024273", "aliases": ["Complete duplication of the innermost bone of the thumb"], "types": ["T190"], "canonical_name": "Complete duplication of proximal phalanx of the thumb", "definition": "Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:probinson]"} {"concept_id": "C4024274", "aliases": ["Fused innermost bone of index finger with 2nd long bone of hand"], "types": ["T190"], "canonical_name": "Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal", "definition": "Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal. [HPO:curators]"} {"concept_id": "C4024275", "aliases": ["Absent innermost bone of index finger"], "types": ["T033"], "canonical_name": "Aplasia of the proximal phalanx of the 2nd finger", "definition": "Absence of the proximal phalanx of the 2nd finger. [HPO:curators]"} {"concept_id": "C4024276", "aliases": [], "types": ["T191"], "canonical_name": "Peripheral Schwannoma", "definition": "The presence of a peripheral schwannoma. [HPO:probinson]"} {"concept_id": "C4024277", "aliases": ["Fused innermost bone of index finger"], "types": ["T190"], "canonical_name": "Symphalangism affecting the proximal phalanx of the 2nd finger", "definition": "Fusion of the proximal phalanx of the 2nd finger with another bone. [HPO:curators]"} {"concept_id": "C4024278", "aliases": ["Uneven increase in bone density in innermost index finger bone"], "types": ["T033"], "canonical_name": "Patchy sclerosis of the proximal phalanx of the 2nd finger", "definition": "Uneven (irregular) increase in bone density of the proximal phalanx of the second finger. [HPO:probinson]"} {"concept_id": "C4024279", "aliases": ["Curved innermost bone of index finger"], "types": ["T190"], "canonical_name": "Curved proximal phalanx of the 2nd finger", "definition": "Curved appearance of the proximal phalanx of the 2nd finger. [HPO:curators]"} {"concept_id": "C4024280", "aliases": ["Bullet-shaped innermost bone of index finger"], "types": ["T190"], "canonical_name": "Bullet-shaped proximal phalanx of the 2nd finger", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected. [HPO:curators]"} {"concept_id": "C4024281", "aliases": ["Absent/small innermost index finger bone", "Absent/underdeveloped innermost index finger bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger"} {"concept_id": "C4024282", "aliases": ["Fused innermost and middle index finger bones"], "types": ["T190"], "canonical_name": "Proximal/middle symphalangism of the 2nd finger", "definition": "Fusion of the proximal and middle phalanges of the 2nd finger. [HPO:curators]"} {"concept_id": "C4024283", "aliases": ["Triangular shaped middle bone of index finger"], "types": ["T190"], "canonical_name": "Triangular shaped middle phalanx of the 2nd finger", "definition": "Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024284", "aliases": ["Fused middle bone of index finger"], "types": ["T190"], "canonical_name": "Symphalangism of middle phalanx of 2nd finger", "definition": "Fusion of the middle phalanx of the 2nd finger with another bone. [HPO:curators]"} {"concept_id": "C4024285", "aliases": ["Uneven increase in bone density in the middle bone of the index finger"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the middle phalanx of the 2nd finger", "definition": "Uneven (irregular) increase in bone density of the middle phalanx of the second finger. [HPO:probinson]"} {"concept_id": "C4024286", "aliases": ["Curved middle bone of the index finger"], "types": ["T190"], "canonical_name": "Curved middle phalanx of the 2nd finger", "definition": "Curved appearance of the middle phalanx of the 2nd finger. [HPO:curators]"} {"concept_id": "C4024287", "aliases": ["Bullet-shaped middle bone of index finger"], "types": ["T190"], "canonical_name": "Bullet-shaped middle phalanx of the 2nd finger", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected. [HPO:curators]"} {"concept_id": "C4024288", "aliases": ["Broad middle bone of the index finger"], "types": ["T190"], "canonical_name": "Broad middle phalanx of the 2nd finger", "definition": "Increased width of the middle phalanx of the second finger. [HPO:sdoelken]"} {"concept_id": "C4024289", "aliases": ["Triangular shaped outermost bone of the 2nd finger"], "types": ["T190"], "canonical_name": "Triangular shaped distal phalanx of the 2nd finger", "definition": "Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024290", "aliases": ["Uneven increase in bone density in the outermost bone of the 2nd finger"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the distal phalanx of the 2nd finger", "definition": "Uneven (irregular) increase in bone density of the distal phalanx of the second finger. [HPO:probinson]"} {"concept_id": "C4024291", "aliases": ["Curved outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Curved distal phalanx of the 2nd finger", "definition": "Curved appearance of the distal phalanx of the 2nd finger. [HPO:curators]"} {"concept_id": "C4024292", "aliases": ["Bullet-shaped outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Bullet-shaped distal phalanx of the 2nd finger", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected. [HPO:curators]"} {"concept_id": "C4024293", "aliases": ["Wide outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Broad distal phalanx of the 2nd finger", "definition": "Increased width of the distal phalanx of the 2nd finger. [HPO:curators]"} {"concept_id": "C4024294", "aliases": ["Absent/small outermost index finger bone", "Absent/underdeveloped outermost index finger bone"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the distal phalanx of the 2nd finger"} {"concept_id": "C4024295", "aliases": ["Decreased size of pharynx", "Underdevelopment of pharynx"], "types": ["T033"], "canonical_name": "Hypoplasia of the pharynx", "definition": "Underdevelopment of the pharynx. [HPO:curators]"} {"concept_id": "C4024296", "aliases": ["Hair growing down to cheek", "Hair displacement, preauricular, towards lateral cheekbone", "Projection of scalp hair onto lateral cheek"], "types": ["T033"], "canonical_name": "Preauricular hair displacement", "definition": "An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones. [HPO:probinson]"} {"concept_id": "C4024297", "aliases": ["Abnormality of the hairline"], "types": ["T190"], "canonical_name": "Abnormality of the hairline", "definition": "The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. [HPO:probinson]"} {"concept_id": "C4024298", "aliases": ["Absent/small index finger bone", "Absent/underdeveloped index finger bone"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the phalanges of the 2nd finger"} {"concept_id": "C4024299", "aliases": ["Curved index finger bones"], "types": ["T190"], "canonical_name": "Curved phalanges of the 2nd finger"} {"concept_id": "C4024300", "aliases": ["Bullet-shaped index finger bones"], "types": ["T190"], "canonical_name": "Bullet-shaped phalanges of the 2nd finger", "definition": "A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]"} {"concept_id": "C4024301", "aliases": [], "types": ["T190"], "canonical_name": "Contracture of the metacarpophalangeal joint of the 2nd finger", "definition": "Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue. [HPO:curators]"} {"concept_id": "C4024302", "aliases": [], "types": ["T033"], "canonical_name": "Contracture of the distal interphalangeal joint of the 2nd finger", "definition": "Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. [HPO:probinson]"} {"concept_id": "C4024303", "aliases": ["Speckled calcifications in end part of the innermost long bone of index finger"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the proximal phalanx of the 2nd finger"} {"concept_id": "C4024304", "aliases": ["Small end part of proximal long bond of index finger"], "types": ["T190"], "canonical_name": "Small epiphysis of the proximal phalanx of the 2nd finger"} {"concept_id": "C4024305", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the proximal phalanx of the 2nd finger", "definition": "A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4024306", "aliases": ["Increased bone density of end part of the innermost bone of the index finger"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the proximal phalanx of the 2nd finger"} {"concept_id": "C4024307", "aliases": ["Irregular end part of innermost long bone of index finger"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the proximal phalanx of the 2nd finger"} {"concept_id": "C4024308", "aliases": ["Fragmentation of end part of innermost long bone of index finger"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger"} {"concept_id": "C4024309", "aliases": ["Absent end part of innermost long bone of index finger"], "types": ["T190"], "canonical_name": "Absent epiphysis of the proximal phalanx of the 2nd finger"} {"concept_id": "C4024310", "aliases": ["Triangular end part of the middle bone of the index finger"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the middle phalanx of the 2nd finger"} {"concept_id": "C4024311", "aliases": ["Speckled calcifications in end part of the middle bone of the index finger"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the middle phalanx of the 2nd finger"} {"concept_id": "C4024312", "aliases": ["Small end part of the innermost long bone of index finger"], "types": ["T190"], "canonical_name": "Small epiphysis of the middle phalanx of the 2nd finger"} {"concept_id": "C4024313", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the middle phalanx of the 2nd finger", "definition": "A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4024314", "aliases": ["Increased bone density of end part of the middle bone of the index finger"], "types": ["T033"], "canonical_name": "Ivory epiphysis of the middle phalanx of the 2nd finger"} {"concept_id": "C4024315", "aliases": ["Irregular end part of the middle long bone of the index finger"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the middle phalanx of the 2nd finger"} {"concept_id": "C4024316", "aliases": ["Fragmentation of end part of the middle long bone of the index finger"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the middle phalanx of the 2nd finger"} {"concept_id": "C4024317", "aliases": ["Enlarged end part of the middle bone of the index finger"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the middle phalanx of the 2nd finger"} {"concept_id": "C4024318", "aliases": ["Bracket shaped end part of the middle long bone of the index finger"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the middle phalanx of the 2nd finger", "definition": "An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024319", "aliases": ["Triangular end part of the outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Triangular epiphysis of the distal phalanx of the 2nd finger", "definition": "A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]"} {"concept_id": "C4024320", "aliases": ["Speckled calcifications in end part of the outermost bone of the index finger"], "types": ["T033"], "canonical_name": "Stippling of the epiphysis of the distal phalanx of the 2nd finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger. [HPO:curators]"} {"concept_id": "C4024321", "aliases": ["Small end part of the outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Small epiphysis of the distal phalanx of the 2nd finger", "definition": "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024322", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the distal phalanx of the 2nd finger", "definition": "A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4024323", "aliases": ["Irregular end part of the outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the distal phalanx of the 2nd finger", "definition": "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger. [HPO:curators]"} {"concept_id": "C4024324", "aliases": ["Fragmentation of end part of the outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the distal phalanx of the 2nd finger", "definition": "Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger. [HPO:curators]"} {"concept_id": "C4024325", "aliases": ["Enlarged end part of the outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the distal phalanx of the 2nd finger", "definition": "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024326", "aliases": ["Cone-shaped end part of the outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the distal phalanx of the 2nd finger", "definition": "A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]"} {"concept_id": "C4024327", "aliases": ["Bracket shaped end part of the outermost bone of the index finger"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the distal phalanx of the 2nd finger", "definition": "An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024328", "aliases": ["Triangular end part of the index finger"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the 2nd finger", "definition": "A triangular appearance of the epiphyses of the 2nd finger of the hand. [HPO:curators]"} {"concept_id": "C4024329", "aliases": ["Speckled calcifications in end part of the index finger"], "types": ["T190"], "canonical_name": "Stippling of the epiphyses of the 2nd finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger. [HPO:curators]"} {"concept_id": "C4024330", "aliases": ["Small end part of the index finger"], "types": ["T190"], "canonical_name": "Small epiphyses of the 2nd finger", "definition": "Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024331", "aliases": ["Increased bone density of end part of the index finger bone"], "types": ["T190"], "canonical_name": "Ivory epiphyses of the 2nd finger", "definition": "Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4024332", "aliases": ["Irregular end part of the index finger"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the 2nd finger", "definition": "Irregular radiographic opacity of the epiphyses of the 2nd finger. [HPO:curators]"} {"concept_id": "C4024333", "aliases": ["Fragmentation of end part of the index finger"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the 2nd finger", "definition": "Fragmented appearance of the epiphyses of the 2nd finger. [HPO:curators]"} {"concept_id": "C4024334", "aliases": ["Enlarged end part of the index finger"], "types": ["T190"], "canonical_name": "Enlarged epiphyses of the 2nd finger", "definition": "Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024335", "aliases": ["Cone-shaped end part of the index finger"], "types": ["T190"], "canonical_name": "Cone-shaped epiphyses of the 2nd finger", "definition": "A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. [HPO:curators]"} {"concept_id": "C4024336", "aliases": ["Absent end part of index finger"], "types": ["T190"], "canonical_name": "Absent epiphyses of the 2nd finger", "definition": "Absence of the epiphyses of the 2nd finger. [HPO:curators]"} {"concept_id": "C4024337", "aliases": [], "types": ["T190"], "canonical_name": "Radial deviation of the hand or of fingers of the hand"} {"concept_id": "C4024338", "aliases": ["Displaced hand or fingers of the hand"], "types": ["T190"], "canonical_name": "Deviation of the hand or of fingers of the hand", "definition": "Displacement of the hand or of fingers of the hand from their normal position. [HPO:curators]"} {"concept_id": "C4024339", "aliases": ["Fused innermost bones of middle finger with middle long bone of hand"], "types": ["T190"], "canonical_name": "Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal", "definition": "Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal. [HPO:curators]"} {"concept_id": "C4024340", "aliases": ["Fused of innermost and middle bones of middle finger"], "types": ["T190"], "canonical_name": "Proximal/middle symphalangism of 3rd finger", "definition": "Fusion of the proximal and middle phalanges of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024341", "aliases": ["Fused innermost bone of ring finger with 4th long bone of hand"], "types": ["T190"], "canonical_name": "Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal", "definition": "Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal. [HPO:curators]"} {"concept_id": "C4024342", "aliases": ["Fused innermost and middle bone of fourth finger"], "types": ["T190"], "canonical_name": "Proximal/middle symphalangism of 4th finger", "definition": "Fusion of the proximal and middle phalanges of the 4th finger. [HPO:sdoelken]"} {"concept_id": "C4024343", "aliases": [], "types": ["T033"], "canonical_name": "Contracture of the metacarpophalangeal joint of the 3rd finger", "definition": "Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue. [HPO:curators]"} {"concept_id": "C4024344", "aliases": ["Contracture of the outermost hinge joint of the 3rd finger"], "types": ["T190"], "canonical_name": "Contracture of the distal interphalangeal joint of the 3rd finger", "definition": "Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. [HPO:probinson]"} {"concept_id": "C4024345", "aliases": ["Inward turned middle finger"], "types": ["T190"], "canonical_name": "Radial deviation of the 3rd finger", "definition": "Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). [HPO:sdoelken]"} {"concept_id": "C4024346", "aliases": ["Absent middle finger"], "types": ["T033"], "canonical_name": "Aplasia of the 3rd finger", "definition": "Absent 3rd finger. [HPO:curators]"} {"concept_id": "C4024347", "aliases": ["Absent innermost bone of middle finger"], "types": ["T190"], "canonical_name": "Aplasia of the proximal phalanx of the 3rd finger", "definition": "Absence of the proximal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024348", "aliases": ["Absent/small innermost bone of middle finger", "Absent/underdeveloped innermost bone of middle finger"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger"} {"concept_id": "C4024349", "aliases": ["Triangular shaped innermost bone of middle finger"], "types": ["T190"], "canonical_name": "Triangular shaped proximal phalanx of the 3rd finger", "definition": "Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024350", "aliases": ["Fused innermost bone of middle finger"], "types": ["T190"], "canonical_name": "Symphalangism affecting the proximal phalanx of the 3rd finger", "definition": "Fusion of the proximal phalanx of the 3rd finger with another bone. [HPO:curators]"} {"concept_id": "C4024351", "aliases": ["Uneven increase in bone density in the innermost bone of the middle finger"], "types": ["T033"], "canonical_name": "Patchy sclerosis of the proximal phalanx of the 3rd finger", "definition": "Uneven (irregular) increase in bone density of the proximal phalanx of the third finger. [HPO:probinson]"} {"concept_id": "C4024352", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the proximal phalanx of the 3rd finger", "definition": "Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024353", "aliases": ["Curved innermost bone of middle finger"], "types": ["T190"], "canonical_name": "Curved proximal phalanx of the 3rd finger", "definition": "Curved appearance of the proximal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024354", "aliases": ["Bullet-shaped innermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Bullet-shaped proximal phalanx of the 3rd finger", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected. [HPO:curators]"} {"concept_id": "C4024355", "aliases": ["Broad innermost bone of middle finger"], "types": ["T190"], "canonical_name": "Broad proximal phalanx of the 3rd finger", "definition": "Increased width of the proximal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024356", "aliases": ["Small middle finger phalanges", "Absent/small middle finger bone", "Hypoplastic middle finger phalanges", "Short middle finger phalanges", "Absent/underdeveloped middle finger bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the phalanges of the 3rd finger"} {"concept_id": "C4024357", "aliases": ["Triangular shaped bone of the middle finger"], "types": ["T190"], "canonical_name": "Triangular shaped phalanges of the 3rd finger", "definition": "Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024358", "aliases": ["Fused middle finger"], "types": ["T190"], "canonical_name": "Symphalangism of the 3rd finger", "definition": "Fusion of two or more bones of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024359", "aliases": ["Curved bones of middle finger"], "types": ["T190"], "canonical_name": "Curved phalanges of the 3rd finger", "definition": "Curved appearance of the phalanges of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024360", "aliases": ["Bullet-shaped bones of middle finger"], "types": ["T190"], "canonical_name": "Bullet-shaped phalanges of the 3rd finger", "definition": "A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:curators]"} {"concept_id": "C4024361", "aliases": ["Absent/small middle bone of the middle finger", "Absent/underdeveloped middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the middle phalanx of the 3rd finger"} {"concept_id": "C4024362", "aliases": ["Triangular shaped middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Triangular shaped middle phalanx of the 3rd finger", "definition": "Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024363", "aliases": ["Fused middle bone of middle finger"], "types": ["T190"], "canonical_name": "Symphalangism of middle phalanx of 3rd finger", "definition": "Fusion of the middle phalanx of the 3rd finger with another bone. [HPO:curators]"} {"concept_id": "C4024364", "aliases": ["Uneven increase in bone density in the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the middle phalanx of the 3rd finger", "definition": "Uneven (irregular) increase in bone density of the middle phalanx of the third finger. [HPO:probinson]"} {"concept_id": "C4024365", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the middle phalanx of the 3rd finger", "definition": "Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024366", "aliases": ["Curved middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Curved middle phalanx of the 3rd finger", "definition": "Curved appearance of the middle phalanx of the 3rd (middle) finger. [HPO:curators]"} {"concept_id": "C4024367", "aliases": ["Bullet-shaped middle bone of middle finger"], "types": ["T190"], "canonical_name": "Bullet-shaped middle phalanx of the 3rd finger", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected. [HPO:curators]"} {"concept_id": "C4024368", "aliases": ["Absent of the outermost bone of the middle finger"], "types": ["T033"], "canonical_name": "Aplasia of the distal phalanx of the 3rd finger", "definition": "Absence of the distal phalanx of the middle (3rd) finger. [HPO:curators]"} {"concept_id": "C4024369", "aliases": ["Curved outermost bone of the 3rd finger"], "types": ["T190"], "canonical_name": "Curved distal phalanx of the 3rd finger", "definition": "Curved appearance of the distal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024370", "aliases": ["Triangular shaped outermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Triangular shaped distal phalanx of the 3rd finger", "definition": "Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024371", "aliases": ["Uneven increase in bone density in the outermost bone of the 3rd finger"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the distal phalanx of the 3rd finger", "definition": "Uneven (irregular) increase in bone density of the distal phalanx of the third finger. [HPO:probinson]"} {"concept_id": "C4024372", "aliases": ["Bullet-shaped outermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Bullet-shaped distal phalanx of the 3rd finger", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected. [HPO:curators]"} {"concept_id": "C4024373", "aliases": ["Broad outermost bone of middle finger"], "types": ["T190"], "canonical_name": "Broad distal phalanx of the 3rd finger", "definition": "Increased width of the distal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024374", "aliases": ["Absent/underdeveloped outermost middle finger bone", "Absent/small outermost middle finger bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the distal phalanx of the 3rd finger"} {"concept_id": "C4024375", "aliases": ["Speckled calcifications in end part of middle finger bone"], "types": ["T190"], "canonical_name": "Stippling of the epiphyses of the 3rd finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024376", "aliases": ["Small end part of middle finger bone"], "types": ["T190"], "canonical_name": "Small epiphyses of the 3rd finger", "definition": "Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024377", "aliases": ["Increased bone density of end part of the middle finger bone"], "types": ["T033"], "canonical_name": "Ivory epiphyses of the 3rd finger", "definition": "Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4024378", "aliases": ["Irregular end part of middle finger bone"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the 3rd finger", "definition": "Irregular radiographic opacity of the epiphyses of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024379", "aliases": ["Fragmentation of end part of middle finger bone"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the 3rd finger", "definition": "Fragmented appearance of the epiphyses of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024380", "aliases": ["Enlarged end part of middle finger bone"], "types": ["T190"], "canonical_name": "Enlarged epiphyses of the 3rd finger", "definition": "Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024381", "aliases": ["Cone-shaped end part of middle finger bone"], "types": ["T190"], "canonical_name": "Cone-shaped epiphyses of the 3rd finger", "definition": "A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. [HPO:curators]"} {"concept_id": "C4024382", "aliases": ["Bracket shaped end part of middle finger bone"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the 3rd finger", "definition": "An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024383", "aliases": ["Absent end part of middle finger bone"], "types": ["T190"], "canonical_name": "Absent epiphyses of the 3rd finger", "definition": "Absence of the epiphyses of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024384", "aliases": ["Absent/underdeveloped ring finger bones", "Absent/small ring finger bones"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the phalanges of the 4th finger"} {"concept_id": "C4024385", "aliases": ["Triangular shaped bone of ring finger"], "types": ["T190"], "canonical_name": "Triangular shaped phalanges of the 4th finger", "definition": "Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024386", "aliases": ["Bullet-shaped of bone of ring finger"], "types": ["T190"], "canonical_name": "Bullet-shaped phalanges of the 4th finger", "definition": "A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:curators]"} {"concept_id": "C4024387", "aliases": ["Broad bones of ring finger"], "types": ["T190"], "canonical_name": "Broad phalanges of the 4th finger", "definition": "Increased width of the phalanges of the 4th finger. [HPO:curators]"} {"concept_id": "C4024388", "aliases": ["Speckled calcifications in end part of ring finger bone"], "types": ["T190"], "canonical_name": "Stippling of the epiphyses of the 4th finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger. [HPO:curators]"} {"concept_id": "C4024389", "aliases": ["Small end part of ring finger bone"], "types": ["T190"], "canonical_name": "Small epiphyses of the 4th finger", "definition": "Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024390", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphyses of the 4th finger", "definition": "A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4024391", "aliases": ["Increased bone density of end part of the ring finger bone"], "types": ["T190"], "canonical_name": "Ivory epiphyses of the 4th finger", "definition": "Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4024392", "aliases": ["Irregular end part of the ring finger bones"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the 4th finger", "definition": "Irregular radiographic opacity of the epiphyses of the 4th finger. [HPO:curators]"} {"concept_id": "C4024393", "aliases": ["Fragmentation of the end part of the ring finger bones"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the 4th finger", "definition": "Fragmented appearance of the epiphyses of the 4th finger. [HPO:curators]"} {"concept_id": "C4024394", "aliases": ["Enlarged end part of the ring finger bones"], "types": ["T190"], "canonical_name": "Enlarged epiphyses of the 4th finger", "definition": "Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024395", "aliases": ["Cone-shaped end part of the ring finger bones"], "types": ["T190"], "canonical_name": "Cone-shaped epiphyses of the 4th finger", "definition": "A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. [HPO:curators]"} {"concept_id": "C4024396", "aliases": ["Bracket shaped end part of ring finger bones"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the 4th finger", "definition": "An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024397", "aliases": ["Absent end part of the ring finger bone"], "types": ["T190"], "canonical_name": "Absent epiphyses of the 4th finger", "definition": "Absence of one or more epiphyses of the 4th finger. [HPO:curators]"} {"concept_id": "C4024398", "aliases": ["Speckled calcifications in end part of pinkie finger bone", "Speckled calcifications in end part of little finger bone", "Speckled calcifications in end part of pinky finger bone"], "types": ["T190"], "canonical_name": "Stippling of the epiphyses of the 5th finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger. [HPO:curators]"} {"concept_id": "C4024399", "aliases": ["Small end part of pinky finger bone", "Small end part of pinkie finger bone", "Small end part of little finger bone"], "types": ["T190"], "canonical_name": "Small epiphyses of the 5th finger", "definition": "Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024400", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphyses of the 5th finger", "definition": "A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4024401", "aliases": ["Increased bone density of end part of the little finger", "Increased bone density of end part of the pinky finger", "Increased bone density of end part of the pinkie finger"], "types": ["T190"], "canonical_name": "Ivory epiphyses of the 5th finger", "definition": "Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4024402", "aliases": ["Irregular end part of the little finger bones", "Irregular end part of the pinkie finger bones", "Irregular end part of the pinky finger bones"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the 5th finger", "definition": "Irregular radiographic opacity of the epiphyses of the 5th finger. [HPO:curators]"} {"concept_id": "C4024403", "aliases": ["Fragmentation of the end part of the little finger bones", "Fragmentation of the end part of the pinky finger bones", "Fragmentation of the end part of the pinkie finger bones"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphyses of the 5th finger", "definition": "Fragmented appearance of the epiphyses of the 5th finger. [HPO:curators]"} {"concept_id": "C4024404", "aliases": ["Enlarged end part of the little finger bones", "Enlarged end part of the pinky finger bones", "Enlarged end part of the pinkie finger bones"], "types": ["T190"], "canonical_name": "Enlarged epiphyses of the 5th finger", "definition": "Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024405", "aliases": ["Cone-shaped end part of the little finger bones", "Cone-shaped end part of the pinkie finger bones", "Cone-shaped end part of the pinky finger bones"], "types": ["T190"], "canonical_name": "Cone-shaped epiphyses of the 5th finger", "definition": "A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. [HPO:curators]"} {"concept_id": "C4024406", "aliases": ["Bracket shaped end part of little finger bone", "Bracket shaped end part of pinky finger bone", "Bracket shaped end part of pinkie finger bone"], "types": ["T190"], "canonical_name": "Bracket epiphyses of the 5th finger", "definition": "An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024407", "aliases": ["Absent end part of pinky finger bone", "Absent end part of pinkie finger bone", "Absent end part of little finger bone"], "types": ["T190"], "canonical_name": "Absent epiphyses of the 5th finger", "definition": "Absence of one or more epiphyses of the 5th finger. [HPO:curators]"} {"concept_id": "C4024408", "aliases": ["Rhomboid or triangular shaped pinkie finger bone", "Rhomboid or triangular shaped little finger bone", "Rhomboid or triangular shaped pinky finger bone"], "types": ["T190"], "canonical_name": "Rhomboid or triangular shaped 5th finger distal phalanx", "definition": "Rhomboid or triangular shaped 5th (little) finger distal phalanx. [HPO:curators]"} {"concept_id": "C4024409", "aliases": ["Triangular shaped little finger bones", "Triangular shaped pinky finger bones", "Triangular shaped pinkie finger bones"], "types": ["T190"], "canonical_name": "Triangular shaped phalanges of the 5th finger", "definition": "Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024410", "aliases": ["Absent/small little finger bones", "Absent/small pinkie finger bones", "Absent/underdeveloped pinky finger bones", "Absent/small pinky finger bones"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the phalanges of the 5th finger", "definition": "Aplasia/Hypoplasia of the phalanges of the 5th finger. [HPO:curators]"} {"concept_id": "C4024411", "aliases": ["Bullet-shaped little finger bones", "Bullet-shaped pinky finger bones", "Bullet-shaped pinkie finger bones"], "types": ["T190"], "canonical_name": "Bullet-shaped phalanges of the 5th finger", "definition": "A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:curators]"} {"concept_id": "C4024412", "aliases": ["Broad pinky finger bones", "Broad pinkie finger bones", "Broad little finger bones"], "types": ["T190"], "canonical_name": "Broad phalanges of the 5th finger", "definition": "Increased width of the phalanges of the 5th finger. [HPO:curators]"} {"concept_id": "C4024413", "aliases": [], "types": ["T190"], "canonical_name": "Type A brachydactyly"} {"concept_id": "C4024414", "aliases": ["Speckled calcifications in end part of innermost long bone of the middle finger"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the proximal phalanx of the 3rd finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024415", "aliases": ["Small end part of innermost long bone of the middle finger"], "types": ["T190"], "canonical_name": "Small epiphysis of the proximal phalanx of the 3rd finger", "definition": "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024416", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the proximal phalanx of the 3rd finger", "definition": "A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4024417", "aliases": ["Increased bone density of end part of the innermost middle finger bone"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the proximal phalanx of the 3rd finger", "definition": "Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4024418", "aliases": ["Irregular end part of innermost long bone of the middle finger"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the proximal phalanx of the 3rd finger", "definition": "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024419", "aliases": ["Fragmentation of end part of innermost long bone of the middle finger"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger", "definition": "Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024420", "aliases": ["Cone-shaped end part of the innermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the proximal phalanx of the 3rd finger", "definition": "A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]"} {"concept_id": "C4024421", "aliases": ["Bracket shaped end part of innermost long bone of the middle finger"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the proximal phalanx of the 3rd finger", "definition": "An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024422", "aliases": ["Absent end part of innermost long bone of the middle finger"], "types": ["T190"], "canonical_name": "Absent epiphysis of the proximal phalanx of the 3rd finger", "definition": "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024423", "aliases": ["Speckled calcifications in end part of the outermost long bone of the middle finger"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the distal phalanx of the 3rd finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024424", "aliases": ["Small end part of the outermost long bone of the middle finger"], "types": ["T190"], "canonical_name": "Small epiphysis of the distal phalanx of the 3rd finger", "definition": "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024425", "aliases": ["Pseudoepiphysis of the outermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the distal phalanx of the 3rd finger", "definition": "A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4024426", "aliases": ["Increased bone density of end part of the outermost middle finger bone"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the distal phalanx of the 3rd finger", "definition": "Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4024427", "aliases": ["Irregular end part of the outermost long bone of the middle finger"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the distal phalanx of the 3rd finger", "definition": "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024428", "aliases": ["Fragmentation of end part of the outermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the distal phalanx of the 3rd finger", "definition": "Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024429", "aliases": ["Enlarged end part of the outermost bone of the 3rd finger"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the distal phalanx of the 3rd finger", "definition": "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024430", "aliases": ["Cone-shaped end part of the outermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the distal phalanx of the 3rd finger", "definition": "A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]"} {"concept_id": "C4024431", "aliases": ["Bracket shaped end part of the outermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the distal phalanx of the 3rd finger", "definition": "An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024432", "aliases": ["Absent end part of the outermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Absent epiphysis of the distal phalanx of the 3rd finger", "definition": "Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024433", "aliases": ["Abnormality of the middle part of the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the middle phalanx of the 3rd finger"} {"concept_id": "C4024434", "aliases": ["Abnormality of the end part of the innermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the proximal phalanx of the 3rd finger"} {"concept_id": "C4024435", "aliases": ["Abnormality of the end part of the outermost bone of the middle finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the distal phalanx of the 3rd finger"} {"concept_id": "C4024436", "aliases": ["Speckled calcifications in end part of the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the middle phalanx of the 3rd finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024437", "aliases": ["Small end part of the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Small epiphysis of the middle phalanx of the 3rd finger", "definition": "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024438", "aliases": ["Increased bone density of end part of the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the middle phalanx of the 3rd finger", "definition": "Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4024439", "aliases": ["Irregular end part of the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the middle phalanx of the 3rd finger", "definition": "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024440", "aliases": ["Fragmentation of end part of the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the middle phalanx of the 3rd finger", "definition": "Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024441", "aliases": ["Enlarged end part of the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the middle phalanx of the 3rd finger", "definition": "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024442", "aliases": ["Cone-shaped end part of the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the middle phalanx of the 3rd finger", "definition": "A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]"} {"concept_id": "C4024443", "aliases": ["Bracket shaped end part of the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the middle phalanx of the 3rd finger", "definition": "An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024444", "aliases": ["Absent end part of the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Absent epiphysis of the middle phalanx of the 3rd finger", "definition": "Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024445", "aliases": ["Abnormality of end part of the middle bone of the middle finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the 3rd finger", "definition": "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger. [HPO:curators]"} {"concept_id": "C4024446", "aliases": ["Absent/underdeveloped middle finger", "Absent/small middle finger"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the 3rd finger", "definition": "A small/hypoplastic or absent/aplastic 3rd (middle) finger. [HPO:curators]"} {"concept_id": "C4024447", "aliases": ["Triangular shaped innermost bone of the ring finger", "Triangular shaped innermost bone of the 4th finger"], "types": ["T190"], "canonical_name": "Triangular shaped proximal phalanx of the 4th finger", "definition": "Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024448", "aliases": ["Fused innermost bone of ring finger"], "types": ["T190"], "canonical_name": "Symphalangism affecting the proximal phalanx of the 4th finger", "definition": "Fusion of the proximal phalanx of the 4th finger with another bone. [HPO:curators]"} {"concept_id": "C4024449", "aliases": ["Uneven increase in bone density in the innermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the proximal phalanx of the 4th finger", "definition": "Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger. [HPO:probinson]"} {"concept_id": "C4024450", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the proximal phalanx of the 4th finger", "definition": "Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024451", "aliases": ["Bullet-shaped innermost ring finger bone"], "types": ["T190"], "canonical_name": "Bullet-shaped proximal phalanx of the 4th finger", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected. [HPO:curators]"} {"concept_id": "C4024452", "aliases": ["Triangular shaped middle bone of the ring finger"], "types": ["T190"], "canonical_name": "Triangular shaped middle phalanx of the 4th finger", "definition": "Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024453", "aliases": ["Fused middle bone of ring finger"], "types": ["T190"], "canonical_name": "Symphalangism of middle phalanx of 4th finger", "definition": "Fusion of the middle phalanx of the 4th finger with another bone. [HPO:sdoelken]"} {"concept_id": "C4024454", "aliases": ["Uneven increase in bone density in the middle bone of the ring finger"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the middle phalanx of the 4th finger", "definition": "Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger. [HPO:probinson]"} {"concept_id": "C4024455", "aliases": ["Triangular shaped outermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Triangular shaped distal phalanx of the 4th finger", "definition": "Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024456", "aliases": ["Uneven increase in bone density in the outermost bone of the ring finger"], "types": ["T033"], "canonical_name": "Patchy sclerosis of the distal phalanx of the 4th finger", "definition": "Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger. [HPO:probinson]"} {"concept_id": "C4024457", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the distal phalanx of the 4th finger", "definition": "Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024458", "aliases": ["Bullet-shaped outermost bone of ring finger"], "types": ["T190"], "canonical_name": "Bullet-shaped distal phalanx of the 4th finger", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected. [HPO:curators]"} {"concept_id": "C4024459", "aliases": ["Absent/underdeveloped middle ring finger bone", "Absent/small middle ring finger bone"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the middle phalanx of the 4th finger"} {"concept_id": "C4024460", "aliases": ["Absent innermost ring finger bone"], "types": ["T033"], "canonical_name": "Aplasia of the proximal phalanx of the 4th finger", "definition": "Absence of the proximal phalanx of the ring (4th) finger. [HPO:curators]"} {"concept_id": "C4024461", "aliases": [], "types": ["T033"], "canonical_name": "Osteolytic defects of the middle phalanx of the 4th finger", "definition": "Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024462", "aliases": ["Bullet-shaped middle bone of the 4th finger"], "types": ["T190"], "canonical_name": "Bullet-shaped middle phalanx of the 4th finger", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected. [HPO:curators]"} {"concept_id": "C4024463", "aliases": ["Broad middle bone of the 4th finger"], "types": ["T190"], "canonical_name": "Broad middle phalanx of the 4th finger", "definition": "Increased width of the middle phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024464", "aliases": ["Broad outermost bone of ring finger", "Wide outermost bone of ring finger"], "types": ["T190"], "canonical_name": "Broad distal phalanx of the 4th finger", "definition": "Increased width of the distal phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024465", "aliases": ["Absent outermost bone of ring finger"], "types": ["T033"], "canonical_name": "Aplasia of the distal phalanx of the 4th finger", "definition": "Absence of the distal phalanx of the ring (4th) finger. [HPO:curators]"} {"concept_id": "C4024466", "aliases": ["Absent/small outermost ring finger bone", "Absent/underdeveloped outermost ring finger bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the distal phalanx of the 4th finger"} {"concept_id": "C4024467", "aliases": ["Curved innermost ring finger bone"], "types": ["T190"], "canonical_name": "Curved proximal phalanx of the 4th finger"} {"concept_id": "C4024468", "aliases": ["Curved middle ring finger bone"], "types": ["T190"], "canonical_name": "Curved middle phalanx of the 4th finger", "definition": "Curved appearance of the middle phalanx of the 4th (ring) finger. [HPO:curators]"} {"concept_id": "C4024469", "aliases": ["Curved outermost ring finger bone"], "types": ["T190"], "canonical_name": "Curved distal phalanx of the 4th finger", "definition": "Curved appearance of the distal phalanx of the 4th (ring) finger. [HPO:curators]"} {"concept_id": "C4024470", "aliases": ["Curved ring finger bone"], "types": ["T190"], "canonical_name": "Curved phalanges of the 4th finger", "definition": "Curved appearance of the phalanges of the 4th (ring) finger. [HPO:curators]"} {"concept_id": "C4024471", "aliases": ["Abnormality of the outermost bone of ring finger"], "types": ["T190"], "canonical_name": "Abnormality of the distal phalanx of the 4th finger"} {"concept_id": "C4024472", "aliases": ["Absent ring finger"], "types": ["T033"], "canonical_name": "Aplasia of the 4th finger", "definition": "Absent 4th finger. [HPO:curators]"} {"concept_id": "C4024473", "aliases": ["Radial deviation of the ring finger"], "types": ["T190"], "canonical_name": "Radial deviation of the 4th finger", "definition": "Displacement of the 4th finger towards the radial side (i.e., towards the thumb). [HPO:sdoelken]"} {"concept_id": "C4024474", "aliases": ["Ulnar deviation of the ring finger"], "types": ["T033"], "canonical_name": "Ulnar deviation of the 4th finger", "definition": "Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger). [HPO:sdoelken]"} {"concept_id": "C4024475", "aliases": [], "types": ["T190"], "canonical_name": "Contracture of the metacarpophalangeal joint of the 4th finger", "definition": "Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue. [HPO:curators]"} {"concept_id": "C4024476", "aliases": [], "types": ["T190"], "canonical_name": "Contracture of the distal interphalangeal joint of the 4th finger", "definition": "Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. [HPO:probinson]"} {"concept_id": "C4024477", "aliases": ["Deviation of the ring finger"], "types": ["T033"], "canonical_name": "Deviation of the 4th finger", "definition": "Displacement of the 4th finger from its normal position. [HPO:curators]"} {"concept_id": "C4024478", "aliases": ["Absent/small ring finger bone", "Absent/underdeveloped ring finger bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the 4th finger", "definition": "A small/hypoplastic or absent/aplastic 4th (ring) finger. [HPO:curators]"} {"concept_id": "C4024479", "aliases": ["Speckled calcifications in end part of the innermost bone of ring finger"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the proximal phalanx of the 4th finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024480", "aliases": ["Small end part of the innermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Small epiphysis of the proximal phalanx of the 4th finger", "definition": "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024481", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the proximal phalanx of the 4th finger", "definition": "A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4024482", "aliases": ["Increased bone density of end part of the innermost ring finger bone"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the proximal phalanx of the 4th finger", "definition": "Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4024483", "aliases": ["Irregular end part of the innermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the proximal phalanx of the 4th finger", "definition": "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024484", "aliases": ["Fragmentation of end part of the innermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the proximal phalanx of the 4th finger", "definition": "Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024485", "aliases": ["Enlarged end part of the innermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the proximal phalanx of the 4th finger", "definition": "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024486", "aliases": ["Cone-shaped end part of the innermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the proximal phalanx of the 4th finger", "definition": "A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]"} {"concept_id": "C4024487", "aliases": ["Absent end part of the innermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Absent epiphysis of the proximal phalanx of the 4th finger", "definition": "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024488", "aliases": ["Speckled calcifications in the end part of the outermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the distal phalanx of the 4th finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024489", "aliases": ["Small end part of the outermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Small epiphysis of the distal phalanx of the 4th finger", "definition": "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024490", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the distal phalanx of the 4th finger", "definition": "A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4024491", "aliases": ["Increased bone density of end part of the outermost ring finger bone"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the distal phalanx of the 4th finger", "definition": "Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4024492", "aliases": ["Irregular end part of the outermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the distal phalanx of the 4th finger", "definition": "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024493", "aliases": ["Fragmentation of end part of the outermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the distal phalanx of the 4th finger", "definition": "Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024494", "aliases": ["Enlarged end part of the outermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the distal phalanx of the 4th finger", "definition": "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024495", "aliases": ["Cone-shaped end part of the outermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the distal phalanx of the 4th finger", "definition": "A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]"} {"concept_id": "C4024496", "aliases": ["Bracket shaped end part of the outermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the distal phalanx of the 4th finger", "definition": "An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024497", "aliases": ["Absent end part of the outermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Absent epiphysis of the distal phalanx of the 4th finger", "definition": "Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024498", "aliases": ["Abnormality of the end part of the outermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the distal phalanx of the 4th finger"} {"concept_id": "C4024499", "aliases": ["Abnormality of the end part of the innermost bone of the ring finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the proximal phalanx of the 4th finger"} {"concept_id": "C4024500", "aliases": ["Abnormality of the end part of the middle bone of the ring finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the middle phalanx of the 4th finger"} {"concept_id": "C4024501", "aliases": ["Absent outermost little finger bone", "Absent outermost pinky finger bone", "Absent outermost pinkie finger bone"], "types": ["T190"], "canonical_name": "Aplasia of the distal phalanx of the 5th finger", "definition": "Absence of the distal phalanx of the little (5th) finger. [HPO:curators]"} {"concept_id": "C4024502", "aliases": ["Triangular shaped outermost pinky finger bone", "Triangular shaped outermost pinkie finger bone", "Triangular shaped outermost little finger bone"], "types": ["T190"], "canonical_name": "Triangular shaped distal phalanx of the 5th finger", "definition": "Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024503", "aliases": ["Uneven increase in bone density in the outermost bone of little finger", "Uneven increase in bone density in the outermost bone of pinkie finger", "Uneven increase in bone density in the outermost bone of pinky finger"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the distal phalanx of the 5th finger", "definition": "Patchy increase in bone density of the distal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024504", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the distal phalanx of the 5th finger", "definition": "Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024505", "aliases": ["Bullet-shaped outermost little finger bone", "Bullet-shaped outermost pinky finger bone", "Bullet-shaped outermost pinkie finger bone"], "types": ["T190"], "canonical_name": "Bullet-shaped distal phalanx of the 5th finger", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected. [HPO:curators]"} {"concept_id": "C4024506", "aliases": ["Wide outermost pinky finger bone", "Broad outermost pinkie finger bone", "Broad outermost pinky finger bone", "Broad outermost little finger bone"], "types": ["T033"], "canonical_name": "Broad distal phalanx of the 5th finger", "definition": "Increased width of the distal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024507", "aliases": ["Absent/underdeveloped outermost bone of pinky finger", "Absent/small outermost bone of pinkie finger", "Absent/small outermost bone of little finger", "Absent/small outermost bone of pinky finger"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the distal phalanx of the 5th finger"} {"concept_id": "C4024508", "aliases": ["Absent pinkie finger", "Absent little finger", "Absent pinky finger"], "types": ["T033"], "canonical_name": "Aplasia of the 5th finger", "definition": "Absent 5th (little) finger. [HPO:curators]"} {"concept_id": "C4024509", "aliases": ["Rhomboid or triangular shaped innermost bone of pinky finger", "Rhomboid or triangular shaped innermost bone of little finger", "Rhomboid or triangular shaped innermost bone of pinkie finger"], "types": ["T190"], "canonical_name": "Rhomboid or triangular shaped 5th finger proximal phalanx", "definition": "Rhomboid or triangular shaped 5th (little) finger proximal phalanx. [HPO:curators]"} {"concept_id": "C4024510", "aliases": ["Fused innermost bone of pinkie finger with 5th long bone of hand", "Fused innermost bone of pinky finger with 5th long bone of hand", "Fused innermost bone of little finger with 5th long bone of hand"], "types": ["T190"], "canonical_name": "Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal", "definition": "Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal. [HPO:curators]"} {"concept_id": "C4024511", "aliases": ["Triangular shaped innermost little finger bone", "Triangular shaped innermost pinky finger bone", "Triangular shaped innermost pinkie finger bone"], "types": ["T190"], "canonical_name": "Triangular shaped proximal phalanx of the 5th finger", "definition": "Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024512", "aliases": ["Fused innermost bone of pinkie finger", "Fused innermost bone of pinky finger", "Fused innermost bone of little finger"], "types": ["T190"], "canonical_name": "Symphalangism affecting the proximal phalanx of the 5th finger", "definition": "Fusion of the proximal phalanx of the 5th finger with another bone. [HPO:curators]"} {"concept_id": "C4024513", "aliases": ["Uneven increase in bone density in the innermost bone of pinkie finger", "Uneven increase in bone density in the innermost bone of little finger", "Uneven increase in bone density in the innermost bone of pinky finger"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the proximal phalanx of the 5th finger", "definition": "Patchy increase in bone density of the proximal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024514", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the proximal phalanx of the 5th finger", "definition": "Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024515", "aliases": ["Curved innermost bone of pinkie finger", "Curved innermost bone of little finger", "Curved innermost bone of pinky finger"], "types": ["T190"], "canonical_name": "Curved proximal phalanx of the 5th finger", "definition": "Curved appearance of the proximal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024516", "aliases": ["Bullet-shaped innermost pinky finger bone", "Bullet-shaped innermost little finger bone", "Bullet-shaped innermost pinkie finger bone"], "types": ["T190"], "canonical_name": "Bullet-shaped proximal phalanx of the 5th finger", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected. [HPO:curators]"} {"concept_id": "C4024517", "aliases": ["Absent innermost bone of little finger", "Absent innermost bone of pinky finger", "Absent innermost bone of pinkie finger"], "types": ["T190"], "canonical_name": "Aplasia of the proximal phalanx of the 5th finger", "definition": "Absence of the proximal phalanx of the little (5th) finger. [HPO:curators]"} {"concept_id": "C4024518", "aliases": ["Speckled calcifications in end part of the middle bone of the ring finger"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the middle phalanx of the 4th finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024519", "aliases": ["Small end part of the middle bone of the ring finger"], "types": ["T190"], "canonical_name": "Small epiphysis of the middle phalanx of the 4th finger", "definition": "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024520", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the middle phalanx of the 4th finger", "definition": "A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4024521", "aliases": ["Increased bone density of end part of the middle ring finger bone"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the middle phalanx of the 4th finger", "definition": "Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4024522", "aliases": ["Irregular end part of the middle bone of the ring finger"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the middle phalanx of the 4th finger", "definition": "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024523", "aliases": ["Fragmentation of end part of the middle bone of the ring finger"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the middle phalanx of the 4th finger", "definition": "Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024524", "aliases": ["Enlarged end part of the middle bone of the ring finger"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the middle phalanx of the 4th finger", "definition": "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024525", "aliases": ["Cone-shaped end part of the middle bone of the ring finger"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the middle phalanx of the 4th finger", "definition": "A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]"} {"concept_id": "C4024526", "aliases": ["Bracket shaped end part of the middle bone of the ring finger"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the middle phalanx of the 4th finger", "definition": "An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024527", "aliases": ["Absent end part of the middle bone of the ring finger"], "types": ["T190"], "canonical_name": "Absent epiphysis of the middle phalanx of the 4th finger", "definition": "Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger. [HPO:curators]"} {"concept_id": "C4024528", "aliases": ["Speckled calcifications in end part of the middle bone of the little finger", "Speckled calcifications in end part of the middle bone of the pinky finger", "Speckled calcifications in end part of the middle bone of the pinkie finger"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the middle phalanx of the 5th finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024529", "aliases": ["Small end part of the middle bone of the little finger", "Small end part of the middle bone of the pinky finger", "Small end part of the middle bone of the pinkie finger"], "types": ["T190"], "canonical_name": "Small epiphysis of the middle phalanx of the 5th finger", "definition": "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024530", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the middle phalanx of the 5th finger", "definition": "A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4024531", "aliases": ["Increased bone density of end part of the middle bone of pinkie finger", "Increased bone density of end part of the middle bone of little finger", "Increased bone density of end part of the middle bone of pinky finger"], "types": ["T190"], "canonical_name": "Ivory epiphysis of the middle phalanx of the 5th finger", "definition": "Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4024532", "aliases": ["Irregular end part of the middle bone of the pinky finger", "Irregular end part of the middle bone of the little finger", "Irregular end part of the middle bone of the pinkie finger"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the middle phalanx of the 5th finger", "definition": "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024533", "aliases": ["Fragmentation of end part of the middle bone of the pinky finger", "Fragmentation of end part of the middle bone of the pinkie finger", "Fragmentation of end part of the middle bone of the little finger"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the middle phalanx of the 5th finger", "definition": "Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024534", "aliases": ["Enlarged end part of the middle bone of the pinkie finger", "Enlarged end part of the middle bone of the little finger", "Enlarged end part of the middle bone of the pinky finger"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the middle phalanx of the 5th finger", "definition": "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024535", "aliases": ["Cone-shaped end part of the middle bone of the pinky finger", "Cone-shaped end part of the middle bone of the little finger", "Cone-shaped end part of the middle bone of the pinkie finger"], "types": ["T190"], "canonical_name": "Cone-shaped epiphysis of the middle phalanx of the 5th finger", "definition": "A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]"} {"concept_id": "C4024536", "aliases": ["Bracket shaped end part of the middle bone of the little finger", "Bracket shaped end part of the middle bone of the pinky finger", "Bracket shaped end part of the middle bone of the pinkie finger"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the middle phalanx of the 5th finger", "definition": "An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024537", "aliases": ["Absent end part of the middle bone of the pinkie finger", "Absent end part of the middle bone of the pinky finger", "Absent end part of the middle bone of the little finger"], "types": ["T190"], "canonical_name": "Absent epiphysis of the middle phalanx of the 5th finger", "definition": "Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024538", "aliases": ["Fragmentation of end part of the innermost bone of the pinky finger", "Fragmentation of end part of the innermost bone of the pinkie finger", "Fragmentation of end part of the innermost bone of the little finger"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the proximal phalanx of the 5th finger", "definition": "Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024539", "aliases": ["Speckled calcifications in end part of the innnermost bone of the pinkie finger", "Speckled calcifications in end part of the innnermost bone of the pinky finger", "Speckled calcifications in end part of the innnermost bone of the little finger"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the proximal phalanx of the 5th finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024540", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the proximal phalanx of the 5th finger", "definition": "A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4024541", "aliases": ["Irregular end part of the innermost little finger bone", "Irregular end part of the innermost pinky finger bone", "Irregular end part of the innermost pinkie finger bone"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the proximal phalanx of the 5th finger", "definition": "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024542", "aliases": ["Bracket shaped end part of the innermost bone of the little finger", "Bracket shaped end part of the innermost bone of the pinkie finger", "Bracket shaped end part of the innermost bone of the pinky finger"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the proximal phalanx of the 5th finger", "definition": "An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024543", "aliases": ["Small end part of the long bone of hand"], "types": ["T190"], "canonical_name": "Small epiphyses of the metacarpals", "definition": "Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024544", "aliases": ["Absent/small innermost pinky finger bone", "Absent/small innermost pinkie finger bone", "Absent/underdeveloped innermost pinky finger bone", "Absent/small innermost little finger bone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the proximal phalanx of the 5th finger", "definition": "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger. [HPO:curators]"} {"concept_id": "C4024545", "aliases": ["Increased bone density of end part of the long bone of hands"], "types": ["T190"], "canonical_name": "Ivory epiphyses of the metacarpals", "definition": "Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4024546", "aliases": ["Irregular end part of the long bone of hand"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the metacarpals", "definition": "Irregular radiographic opacity of the epiphyses of the metacarpals. [HPO:curators]"} {"concept_id": "C4024547", "aliases": ["Fragmentation of end part of the long bone of hand"], "types": ["T190"], "canonical_name": "Fragmentation of the metacarpal epiphyses", "definition": "Fragmented appearance of the epiphyses of the metacarpals. [HPO:curators]"} {"concept_id": "C4024548", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphysis of the distal phalanx of the 5th finger", "definition": "A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]"} {"concept_id": "C4024549", "aliases": ["Bracket shaped end part of the outermost pinkie finger bone", "Bracket shaped end part of the outermost little finger bone", "Bracket shaped end part of the outermost pinky finger bone"], "types": ["T190"], "canonical_name": "Bracket epiphysis of the distal phalanx of the 5th finger", "definition": "An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]"} {"concept_id": "C4024550", "aliases": [], "types": ["T190"], "canonical_name": "Contracture of the metacarpophalangeal joint of the 5th finger", "definition": "Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue. [HPO:curator]"} {"concept_id": "C4024551", "aliases": [], "types": ["T190"], "canonical_name": "Contracture of the distal interphalangeal joint of the 5th finger", "definition": "Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue. [HPO:probinson]"} {"concept_id": "C4024552", "aliases": ["Triangular shaped middle pinkie finger bone", "Triangular shaped middle pinky finger bone", "Triangular shaped middle little finger bone"], "types": ["T190"], "canonical_name": "Triangular shaped middle phalanx of the 5th finger", "definition": "Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]"} {"concept_id": "C4024553", "aliases": [], "types": ["T190"], "canonical_name": "Ulnar deviation of the 5th finger", "definition": "Displacement of the 5th finger towards the ulnar side. [HPO:sdoelken]"} {"concept_id": "C4024554", "aliases": ["Fused middle bones of pinkie finger", "Fused middle bones of pinky finger", "Fused middle bones of little finger"], "types": ["T190"], "canonical_name": "Symphalangism of middle phalanx of 5th finger", "definition": "Fusion of the middle phalanx of the 5th finger with another bone. [HPO:curator]"} {"concept_id": "C4024555", "aliases": ["Uneven increase in bone density in the middle bone of the pinkie finger", "Uneven increase in bone density in the middle bone of the little finger", "Uneven increase in bone density in the middle bone of the pinky finger"], "types": ["T190"], "canonical_name": "Patchy sclerosis of the middle phalanx of the 5th finger", "definition": "Patchy increase in bone density of the middle phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024556", "aliases": ["Abnormality of the end part of the ring finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the 4th finger", "definition": "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger. [HPO:curators]"} {"concept_id": "C4024557", "aliases": ["Curved middle bone of pinkie finger", "Curved middle bone of little finger", "Curved middle bone of pinky finger"], "types": ["T190"], "canonical_name": "Curved middle phalanx of the 5th finger", "definition": "Curved appearance of the middle phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024558", "aliases": ["Triangular end part of the long bone of hand"], "types": ["T190"], "canonical_name": "Triangular epiphyses of the metacarpals", "definition": "A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals. [HPO:curators]"} {"concept_id": "C4024559", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the middle phalanx of the 5th finger", "definition": "Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024560", "aliases": ["Bullet-shaped middle pinky finger bone", "Bullet-shaped middle pinkie finger bone", "Bullet-shaped middle little finger bone"], "types": ["T190"], "canonical_name": "Bullet-shaped middle phalanx of the 5th finger", "definition": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected. [HPO:curators]"} {"concept_id": "C4024561", "aliases": ["Irregular end part of the outermost bone of pinky finger", "Irregular end part of the outermost bone of pinkie finger", "Irregular end part of the outermost bone of little finger"], "types": ["T190"], "canonical_name": "Irregular epiphysis of the distal phalanx of the 5th finger", "definition": "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024562", "aliases": ["Fragmentation of end part of the outermost bone of pinkie finger", "Fragmentation of end part of the outermost bone of pinky finger", "Fragmentation of end part of the outermost bone of little finger"], "types": ["T190"], "canonical_name": "Fragmentation of the epiphysis of the distal phalanx of the 5th finger", "definition": "Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024563", "aliases": ["Speckled calcifications in end part of the outermost bone of pinkie finger", "Speckled calcifications in end part of the outermost bone of little finger", "Speckled calcifications in end part of the outermost bone of pinky finger"], "types": ["T190"], "canonical_name": "Stippling of the epiphysis of the distal phalanx of the 5th finger", "definition": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024564", "aliases": ["Absent end part of the innermost bone of pinky finger", "Absent end part of the innermost bone of pinkie finger", "Absent end part of the innermost bone of little finger"], "types": ["T190"], "canonical_name": "Absent epiphysis of the proximal phalanx of the 5th finger", "definition": "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4024565", "aliases": ["Small end part of the innermost bone of pinky finger", "Small end part of the innermost bone of pinkie finger", "Small end part of the innermost bone of little finger"], "types": ["T190"], "canonical_name": "Small epiphysis of the proximal phalanx of the 5th finger", "definition": "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024566", "aliases": ["Enlarged end part of the innermost bone of little finger", "Enlarged end part of the innermost bone of pinky finger", "Enlarged end part of the innermost bone of pinkie finger"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the proximal phalanx of the 5th finger", "definition": "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024567", "aliases": ["Increased bone density of end part of the innermost bone of pinkie finger", "Increased bone density of end part of the innermost bone of pinky finger", "Increased bone density of end part of the innermost bone of little finger"], "types": ["T033"], "canonical_name": "Ivory epiphysis of the proximal phalanx of the 5th finger", "definition": "Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]"} {"concept_id": "C4024568", "aliases": ["Abnormality of end part of the innermost bone of pinky finger", "Abnormality of end part of the innermost bone of pinkie finger", "Abnormality of end part of the innermost bone of little finger"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the proximal phalanx of the 5th finger", "definition": "Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. [HPO:curator]"} {"concept_id": "C4024569", "aliases": ["Abnormality of end part of pinkie finger bone", "Abnormality of end part of pinky finger bone", "Abnormality of end part of little finger bone"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the 5th finger", "definition": "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger. [HPO:sdoelken]"} {"concept_id": "C4024570", "aliases": ["Abnormality of the innermost bone pinky finger", "Abnormality of the innermost bone pinkie finger", "Abnormality of the innermost bone little finger"], "types": ["T190"], "canonical_name": "Abnormality of the proximal phalanx of the 5th finger", "definition": "Abnormality of the proximal phalanx of the little (5th) finger. [HPO:curators]"} {"concept_id": "C4024571", "aliases": ["Small end part of the outermost bone of pinky finger", "Small end part of the outermost bone of pinkie finger", "Small end part of the outermost bone of little finger"], "types": ["T190"], "canonical_name": "Small epiphysis of the distal phalanx of the 5th finger", "definition": "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024572", "aliases": ["Enlarged end part of the outermost bone of little finger", "Enlarged end part of the outermost bone of pinkie finger", "Enlarged end part of the outermost bone of pinky finger"], "types": ["T190"], "canonical_name": "Enlarged epiphysis of the distal phalanx of the 5th finger", "definition": "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. [HPO:curators]"} {"concept_id": "C4024573", "aliases": [], "types": ["T190"], "canonical_name": "Supernumerary bones of the axial skeleton"} {"concept_id": "C4024574", "aliases": ["Duplication of bones involving the upper extremities"], "types": ["T190"], "canonical_name": "Duplication of bones involving the upper extremities"} {"concept_id": "C4024575", "aliases": ["Fusion involving the bones of the feet"], "types": ["T190"], "canonical_name": "Synostosis involving bones of the feet"} {"concept_id": "C4024576", "aliases": [], "types": ["T047"], "canonical_name": "Osteolysis involving bones of the lower limbs"} {"concept_id": "C4024577", "aliases": ["Fusion involving the bones of the lower limbs"], "types": ["T190"], "canonical_name": "Synostosis involving bones of the lower limbs", "definition": "An abnormal union between bones or parts of bones lower limbs. [HPO:sdoelken]"} {"concept_id": "C4024578", "aliases": ["Duplication involving bones of the feet"], "types": ["T190"], "canonical_name": "Duplication involving bones of the feet"} {"concept_id": "C4024579", "aliases": [], "types": ["T047"], "canonical_name": "Osteolysis involving bones of the feet"} {"concept_id": "C4024580", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the musculature of the thorax", "definition": "A disease or lesion affecting the muscles of the thorax. [HPO:curators]"} {"concept_id": "C4024581", "aliases": ["Absent/underdeveloped muscles of extremities", "Absent/small muscles of extremities"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia involving the musculature of the extremities"} {"concept_id": "C4024582", "aliases": ["Muscle issues in the arms and/or legs", "Abnormal limb muscles"], "types": ["T190"], "canonical_name": "Abnormality of the musculature of the limbs"} {"concept_id": "C4024583", "aliases": ["Increased adipose tissue", "Increased fat tissue"], "types": ["T033"], "canonical_name": "Increased adipose tissue", "definition": "An increase in the amount of adipose tissue."} {"concept_id": "C4024584", "aliases": [], "types": ["T033"], "canonical_name": "Mixed hypo- and hyperpigmentation of the skin"} {"concept_id": "C4024585", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia/hypoplasia affecting bones of the axial skeleton", "definition": "Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. [HPO:probinson]"} {"concept_id": "C4024586", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal axial skeleton morphology", "definition": "An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. [HPO:probinson]"} {"concept_id": "C4024587", "aliases": [], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia involving the sinuses", "definition": "Absence or underdevelopment of a cranial sinus or sinuses. [HPO:curators]"} {"concept_id": "C4024588", "aliases": ["Abnormally small frontal sinus"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the frontal sinuses", "definition": "Absence or underdevelopment of frontal sinus. [HPO:probinson]"} {"concept_id": "C4024589", "aliases": [], "types": ["T190"], "definition": "Absence or underdevelopment of the mandible. [HPO:probinson]", "canonical_name": "Aplasia/Hypoplasia of the mandible"} {"concept_id": "C4024590", "aliases": ["Underdevelopment of maxilla", "Underdevelopment of upper jaw bones"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the maxilla", "definition": "Absence or underdevelopment of the maxilla. [HPO:probinson]"} {"concept_id": "C4024591", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia involving bones of the skull"} {"concept_id": "C4024592", "aliases": ["Absent/underdeveloped skeleton", "Absent/small skeleton"], "types": ["T033"], "canonical_name": "Aplasia/hypoplasia involving the skeleton", "definition": "Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. [HPO:probinson]"} {"concept_id": "C4024594", "aliases": ["Absent/small head and neck of thighbone", "Absent/underdeveloped head and neck of thighbone"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia involving the femoral head and neck"} {"concept_id": "C4024595", "aliases": ["Abnormal maturation of thigh bone head and neck"], "types": ["T033"], "canonical_name": "Abnormal ossification involving the femoral head and neck"} {"concept_id": "C4024596", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ossification of the pubic bone", "definition": "Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis. [HPO:probinson]"} {"concept_id": "C4024597", "aliases": ["Absent/underdeveloped pelvis", "Absent/small pelvis"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia involving the pelvis"} {"concept_id": "C4024599", "aliases": ["Chronic oral thrush"], "types": ["T047"], "canonical_name": "Chronic oral candidiasis", "definition": "Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. []"} {"concept_id": "C4024600", "aliases": ["Posteriorly placed tongue"], "types": ["T190"], "canonical_name": "Posteriorly placed tongue"} {"concept_id": "C4024601", "aliases": [], "types": ["T033"], "canonical_name": "Weakness of long finger extensor muscles"} {"concept_id": "C4024602", "aliases": ["Loss of fat tissue below the skin from upper limbs"], "types": ["T033"], "canonical_name": "Loss of subcutaneous adipose tissue from upper limbs"} {"concept_id": "C4024603", "aliases": ["Quadriceps muscle atrophy"], "types": ["T046"], "definition": "Muscular atrophy involving the quadriceps muscle. [HPO:curators]", "canonical_name": "Wasting of quad muscles"} {"concept_id": "C4024604", "aliases": [], "types": ["T033"], "canonical_name": "Amyotrophy of ankle musculature", "definition": "Atrophy of the muscles of the ankle. [HPO:probinson]"} {"concept_id": "C4024605", "aliases": ["Generalised weakness of limb muscles"], "types": ["T033"], "canonical_name": "Generalized weakness of limb muscles", "definition": "Generalized weakness of the muscles of the arms and legs. [HPO:curators]"} {"concept_id": "C4024606", "aliases": ["Loss of fat tissue below the skin in gluts"], "types": ["T033"], "canonical_name": "Loss of gluteal subcutaneous adipose tissue", "definition": "Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region. [HPO:probinson]"} {"concept_id": "C4024607", "aliases": [], "types": ["T184"], "canonical_name": "Exercise-induced leg cramps", "definition": "Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion. [HPO:probinson]"} {"concept_id": "C4024608", "aliases": [], "types": ["T047"], "canonical_name": "Necrotizing myopathy"} {"concept_id": "C4024609", "aliases": [], "types": ["T033"], "canonical_name": "Decreased activity of mitochondrial respiratory chain", "definition": "Decreased activity of the mitochondrial respiratory chain. [HPO:probinson]"} {"concept_id": "C4024610", "aliases": [], "types": ["T184"], "canonical_name": "Leg muscle stiffness"} {"concept_id": "C4024611", "aliases": [], "types": ["T047"], "canonical_name": "Nonprogressive muscular atrophy", "definition": "Muscular atrophy that does not display a progression in severity with time. [HPO:curators]"} {"concept_id": "C4024612", "aliases": [], "types": ["T033"], "canonical_name": "Tibialis muscle weakness", "definition": "Muscle weakness affecting the tibialis anterior muscle. [HPO:probinson]"} {"concept_id": "C4024613", "aliases": [], "types": ["T047"], "canonical_name": "Progressive distal muscular atrophy", "definition": "Progressive muscular atrophy affecting muscles in the distal portions of the extremities. [HPO:curators]"} {"concept_id": "C4024614", "aliases": [], "types": ["T033"], "canonical_name": "Asymmetric short stature"} {"concept_id": "C4024615", "aliases": ["Loss of fat tissue"], "types": ["T033"], "canonical_name": "Adipose tissue loss", "definition": "A loss of adipose tissue. [HPO:probinson]"} {"concept_id": "C4024616", "aliases": ["Moderate growth delay in children"], "types": ["T033"], "canonical_name": "Moderate postnatal growth retardation", "definition": "A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms. [DDD:hfirth]"} {"concept_id": "C4024617", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic ischiopubic rami", "definition": "Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium. [HPO:probinson]"} {"concept_id": "C4024618", "aliases": ["Large iliac wings"], "types": ["T033"], "canonical_name": "Large iliac wing", "definition": "Increased size of the ilium ala. [HPO:probinson]"} {"concept_id": "C4024619", "aliases": ["Wide head of thigh bone"], "types": ["T033"], "canonical_name": "Broad femoral head", "definition": "Increased width of the femoral head. [HPO:probinson]"} {"concept_id": "C4024620", "aliases": ["Widened sacrosciatic notch", "Widening of the sacrosciatic notch"], "types": ["T190"], "canonical_name": "Widened greater sciatic notch", "definition": "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch. [HPO:probinson]"} {"concept_id": "C4024621", "aliases": [], "types": ["T190"], "canonical_name": "Early ossification of capital femoral epiphyses", "definition": "Developmental acceleration of ossification of the proximal epiphysis of the femur. [HPO:probinson]"} {"concept_id": "C4024622", "aliases": ["Wide end part of innermost thighbone"], "types": ["T190"], "canonical_name": "Wide capital femoral epiphyses", "definition": "Abnormally wide morphology of the proximal epiphysis of the femur. [HPO:probinson]"} {"concept_id": "C4024623", "aliases": ["Wide metaphysis of innermost thighbone"], "types": ["T033"], "canonical_name": "Wide proximal femoral metaphysis", "definition": "Increased width of the proximal part of the shaft (metaphysis) of the femur. [HPO:probinson]"} {"concept_id": "C4024624", "aliases": ["Abnormal kidney artery", "Abnormality of the renal artery"], "types": ["T190"], "canonical_name": "Abnormal renal artery morphology", "definition": "Any structural abnormality of the renal artery. [HPO:probinson]"} {"concept_id": "C4024625", "aliases": ["Absent/small inner ear", "Absent/underdeveloped inner ear"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the inner ear", "definition": "Aplasia or developmental hypoplasia of the inner ear. [HPO:probinson]"} {"concept_id": "C4024626", "aliases": ["Absent/underdeveloped external ear", "Absent/small external ear"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the external ear", "definition": "The presence of aplasia or developmental hypoplasia of all or part of the external ear. [HPO:probinson]"} {"concept_id": "C4024627", "aliases": ["Absent/small ear", "Absent/underdeveloped ear"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the ear", "definition": "The presence of aplasia or developmental hypoplasia of the ear. [HPO:probinson]"} {"concept_id": "C4024628", "aliases": ["Absent epiglottis"], "types": ["T019"], "canonical_name": "Aplasia of the epiglottis", "definition": "Absence of the epiglottis. [HPO:probinson]"} {"concept_id": "C4024629", "aliases": [], "types": ["T033"], "canonical_name": "Prominent prostate median bar"} {"concept_id": "C4024630", "aliases": ["Partially duplicated kidney"], "types": ["T190"], "canonical_name": "Partially duplicated kidney", "definition": "The presence of a partially duplicated kidney. [HPO:probinson]"} {"concept_id": "C4024631", "aliases": [], "types": ["T047"], "canonical_name": "Renal hypophosphatemia", "definition": "Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion. [PMID:22392950, PMID:30180816]"} {"concept_id": "C4024632", "aliases": [], "types": ["T019"], "canonical_name": "Gonadal dysgenesis with female appearance, male", "definition": "Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation. [HPO:sdoelken]"} {"concept_id": "C4024633", "aliases": [], "types": ["T190"], "canonical_name": "Ureterovesical stenosis"} {"concept_id": "C4024634", "aliases": [], "types": ["T190"], "canonical_name": "Distal urethral duplication"} {"concept_id": "C4024635", "aliases": [], "types": ["T190"], "canonical_name": "Ureteral triplication"} {"concept_id": "C4024636", "aliases": [], "types": ["T033"], "canonical_name": "Gonadal calcification", "definition": "Deposition of calcium salts in gonadal tissue. [HPO:probinson]"} {"concept_id": "C4024637", "aliases": [], "types": ["T190"], "canonical_name": "Absent internal genitalia"} {"concept_id": "C4024638", "aliases": ["Transient nephrosis"], "types": ["T047"], "canonical_name": "Transient nephrotic syndrome"} {"concept_id": "C4024639", "aliases": [], "types": ["T190"], "canonical_name": "Solitary bladder diverticulum", "definition": "Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder. [Eurenomics:fschaefer]"} {"concept_id": "C4024640", "aliases": ["Absent/small uterus", "Absent/underdeveloped uterus"], "types": ["T033"], "canonical_name": "Aplasia/hypoplasia of the uterus", "definition": "Absence or developmental hypoplasia of the uterus. [HPO:probinson]"} {"concept_id": "C4024641", "aliases": ["Enlarged ovaries with cysts"], "types": ["T047"], "canonical_name": "Enlarged polycystic ovaries"} {"concept_id": "C4024642", "aliases": [], "types": ["T046"], "canonical_name": "Impaired histidine renal tubular absorption"} {"concept_id": "C4024643", "aliases": [], "types": ["T046"], "canonical_name": "Urethral sphincter sclerosis"} {"concept_id": "C4024644", "aliases": [], "types": ["T047"], "canonical_name": "Multiple small medullary renal cysts", "definition": "The presence of many cysts in the medulla of the kidney. [Eurenomics:ewuehl]"} {"concept_id": "C4024645", "aliases": [], "types": ["T019"], "canonical_name": "Incomplete male pseudohermaphroditism"} {"concept_id": "C4024646", "aliases": ["Absent/underdeveloped fallopian tube", "Absent/small fallopian tube"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the fallopian tube", "definition": "Aplasia or developmental hypoplasia of the fallopian tube. [HPO:probinson]"} {"concept_id": "C4024647", "aliases": [], "types": ["T047"], "canonical_name": "Uric acid urolithiasis independent of gout"} {"concept_id": "C4024648", "aliases": [], "types": ["T190"], "canonical_name": "Anteriorly displaced urethral meatus"} {"concept_id": "C4024649", "aliases": [], "types": ["T190"], "canonical_name": "Pubertal developmental failure in females"} {"concept_id": "C4024650", "aliases": [], "types": ["T019"], "canonical_name": "Congenital macroorchidism"} {"concept_id": "C4024651", "aliases": [], "types": ["T047"], "canonical_name": "Lobular glomerulopathy"} {"concept_id": "C4024653", "aliases": [], "types": ["T019"], "canonical_name": "Ureteral dysgenesis", "definition": "A developmental anomaly of the ureter. [HPO:probinson]"} {"concept_id": "C4024654", "aliases": [], "types": ["T046"], "canonical_name": "Postlingual sensorineural hearing impairment", "definition": "A form of sensorineural hearing impairment with onset after the acquisition of speech. [HPO:probinson]"} {"concept_id": "C4024655", "aliases": [], "types": ["T190"], "canonical_name": "Underfolded superior helices", "definition": "A condition in which the superior portion of the helix is folded over to a lesser degree than normal. [HPO:probinson]"} {"concept_id": "C4024656", "aliases": [], "types": ["T033"], "canonical_name": "Absent vestibular function", "definition": "Complete lack of functioning of the vestibular apparatus. [HPO:probinson]"} {"concept_id": "C4024657", "aliases": ["Long hairs growing from helix of ear"], "types": ["T033"], "canonical_name": "Long hairs growing from helix of pinna"} {"concept_id": "C4024658", "aliases": ["Abnormal tailbone", "Abnormality of the coccyx"], "types": ["T190"], "canonical_name": "Abnormal coccyx morphology", "definition": "Any structural abnormality of the coccyx. [HPO:probinson]"} {"concept_id": "C4024659", "aliases": ["Absent/underdeveloped backbone", "Absent/underdeveloped spine", "Absent/small spine", "Absent/small vertebral column", "Absent/underdeveloped vertebral column", "Absent/small backbone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia involving the vertebral column"} {"concept_id": "C4024660", "aliases": ["Absent/small sacrum", "Absent/underdeveloped sacrum"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the sacrum", "definition": "Aplasia or developmental hypoplasia of the sacral bone. [HPO:probinson]"} {"concept_id": "C4024661", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the vertebral spinous processes"} {"concept_id": "C4024662", "aliases": ["Absent/underdeveloped vertebrae", "Absent/small vertebrae"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the vertebrae"} {"concept_id": "C4024663", "aliases": [], "types": ["T047"], "canonical_name": "Static ophthalmoparesis"} {"concept_id": "C4024664", "aliases": [], "types": ["T033"], "canonical_name": "Moderate sensorineural hearing impairment", "definition": "The presence of a moderate form of sensorineural hearing impairment. [HPO:probinson]"} {"concept_id": "C4024666", "aliases": ["Missing adult teeth", "No secondary dentition", "Absence of adult teeth", "No adult dentition", "Absence of secondary dentition"], "types": ["T033"], "canonical_name": "No permanent dentition"} {"concept_id": "C4024667", "aliases": [], "types": ["T019"], "canonical_name": "Congenital craniofacial dysostosis"} {"concept_id": "C4024668", "aliases": [], "types": ["T033"], "canonical_name": "Premature anterior fontanel closure", "definition": "Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. [HPO:probinson]"} {"concept_id": "C4024669", "aliases": [], "types": ["T190"], "canonical_name": "Asymmetry of spinal facet joints"} {"concept_id": "C4024670", "aliases": [], "types": ["T033"], "canonical_name": "Poorly ossified cervical vertebrae", "definition": "Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set. [HPO:probinson]"} {"concept_id": "C4024671", "aliases": [], "types": ["T190"], "canonical_name": "Absent spinous processes of lower thoracic and lumbar vertebrae"} {"concept_id": "C4024672", "aliases": [], "types": ["T190"], "canonical_name": "Central vertebral hypoplasia"} {"concept_id": "C4024673", "aliases": [], "types": ["T190"], "canonical_name": "Cervical vertebral facet hypoplasia"} {"concept_id": "C4024674", "aliases": ["Underdeveloped spinal processes"], "types": ["T190"], "canonical_name": "Hypoplastic spinal processes"} {"concept_id": "C4024675", "aliases": [], "types": ["T190"], "canonical_name": "C1-C2 vertebral abnormality", "definition": "Any abnormality of the atlas and the axis. [HPO:probinson]"} {"concept_id": "C4024676", "aliases": [], "types": ["T190"], "canonical_name": "Reversed usual vertebral column curves"} {"concept_id": "C4024677", "aliases": [], "types": ["T190"], "canonical_name": "Anterior wedging of L1", "definition": "An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front). [HPO:probinson]"} {"concept_id": "C4024678", "aliases": [], "types": ["T190"], "canonical_name": "Punctate vertebral calcifications", "definition": "The presence of punctiform calcification of the bone of the vertebral bodies. [HPO:probinson]"} {"concept_id": "C4024679", "aliases": ["Overgrowth and curving of toenails"], "types": ["T190"], "canonical_name": "Onychogryposis of toenails", "definition": "Thickened toenails. [HPO:probinson]"} {"concept_id": "C4024680", "aliases": ["Detachment of outermost fingernails"], "types": ["T033"], "canonical_name": "Onycholysis of distal fingernails", "definition": "Detachment of the distal fingernails from the nail bed. [HPO:probinson]"} {"concept_id": "C4024681", "aliases": ["Thick skin around nails"], "types": ["T047"], "canonical_name": "Circumungual hyperkeratosis", "definition": "A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails. [HPO:probinson]"} {"concept_id": "C4024682", "aliases": ["Underdeveloped fingernail of pinkie finger", "Underdeveloped fingernail of pinky finger", "Underdeveloped fifth fingernail", "Underdeveloped fingernail of little finger"], "types": ["T190"], "canonical_name": "Hypoplastic fifth fingernail", "definition": "A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. [HPO:probinson]"} {"concept_id": "C4024683", "aliases": [], "types": ["T046"], "canonical_name": "Chronic monilial nail infection", "definition": "Chronic infection of the nails by Candida species. [HPO:probinson]"} {"concept_id": "C4024684", "aliases": [], "types": ["T019"], "canonical_name": "Congenital curved nail of fourth toe"} {"concept_id": "C4024685", "aliases": ["Puberty and gonadal disorders"], "types": ["T047"], "canonical_name": "Puberty and gonadal disorders"} {"concept_id": "C4024686", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of vitamin A metabolism"} {"concept_id": "C4024688", "aliases": ["Abnormal large bone of ankle"], "types": ["T190"], "canonical_name": "Abnormal talus morphology", "definition": "An abnormality of the talus. [HPO:probinson]"} {"concept_id": "C4024689", "aliases": ["Abnormal heel bone"], "types": ["T190"], "canonical_name": "Abnormality of the calcaneus", "definition": "An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel. [HPO:probinson]"} {"concept_id": "C4024690", "aliases": [], "types": ["T033"], "canonical_name": "Corticospinal tract pallor"} {"concept_id": "C4024691", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal hypoproteinemia", "definition": "A neonatal decreased concentration of proteins in the blood. [HPO:gcarletti]"} {"concept_id": "C4024692", "aliases": [], "types": ["T033"], "canonical_name": "Reduced factor XIII activity", "definition": "Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. [HPO:probinson]"} {"concept_id": "C4024693", "aliases": [], "types": ["T033"], "canonical_name": "Factor X activation deficiency", "definition": "Reduced ability to transform factor X into its activated form factor Xa. [HPO:probinson]"} {"concept_id": "C4024694", "aliases": ["Impaired thrombocytes adhesion"], "types": ["T033"], "canonical_name": "Impaired platelet adhesion", "definition": "An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation. [HPO:probinson]"} {"concept_id": "C4024695", "aliases": ["Increased sickling of erythrocytes", "Increased sickling of red cells"], "types": ["T033"], "canonical_name": "Increased red cell sickling tendency"} {"concept_id": "C4024696", "aliases": ["Underdeveloped iris dilator muscle", "Hypoplasia of the pupil dilator muscle", "Underdeveloped pupil dilator muscle"], "types": ["T019"], "canonical_name": "Hypoplasia of the iris dilator muscle", "definition": "Underdevelopment of the dilatator pupillae. [HPO:probinson]"} {"concept_id": "C4024697", "aliases": [], "types": ["T033"], "canonical_name": "Elevated plasma branched chain amino acids", "definition": "An increased concentration of a branched chain amino acid in the blood. [HPO:gcarletti]"} {"concept_id": "C4024698", "aliases": [], "types": ["T047"], "canonical_name": "Diaminoaciduria", "definition": "An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine). []"} {"concept_id": "C4024699", "aliases": ["Partial functional factor d deficiency", "Partial functional adipsin deficiency"], "types": ["T033"], "canonical_name": "Partial functional complement factor D deficiency", "definition": "A partial reduction in level of the complement component Factor D in circulation. []"} {"concept_id": "C4024700", "aliases": ["Elevated creatine phosphokinase after exercise", "Increased phospho-creatine kinase after exercise", "Increased creatine kinase after exercise", "Elevated CK after exercise", "Elevated phospho-creatine kinase after exercise", "Increased phospho-CK after exercise", "Elevated CPK after exercise", "Increased CK after exercise", "Increased creatine phosphokinase after exercise", "Elevated phospho-CK after exercise"], "types": ["T033"], "canonical_name": "Elevated creatine kinase after exercise"} {"concept_id": "C4024701", "aliases": ["Decreased von willebrand factor activity"], "types": ["T033"], "canonical_name": "Reduced von Willebrand factor activity", "definition": "Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. [HPO:probinson, PMID:19694940]"} {"concept_id": "C4024702", "aliases": ["Decreased factor x activity"], "types": ["T033"], "canonical_name": "Reduced factor X activity", "definition": "Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). [HPO:probinson]"} {"concept_id": "C4024703", "aliases": [], "types": ["T033"], "canonical_name": "Impaired collagen-induced platelet aggregation", "definition": "Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. [DDD:kfreson]"} {"concept_id": "C4024704", "aliases": ["Elevated leukocyte ALP"], "types": ["T033"], "canonical_name": "Elevated leukocyte alkaline phosphatase", "definition": "Increased alkaline phosphatase measured within leukocytes. [HPO:probinson]"} {"concept_id": "C4024705", "aliases": [], "types": ["T033"], "canonical_name": "Decreased activity of mitochondrial complex II", "definition": "A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria. [HPO:probinson]"} {"concept_id": "C4024706", "aliases": [], "types": ["T033"], "canonical_name": "Spinal cord posterior columns myelin loss"} {"concept_id": "C4024707", "aliases": [], "types": ["T033"], "canonical_name": "Olivary degeneration", "definition": "Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata. [HPO:probinson]"} {"concept_id": "C4024708", "aliases": [], "types": ["T033"], "canonical_name": "Partial complement factor H deficiency", "definition": "A partial reduction in level of the complement component Factor H in circulation. [https://emedicine.medscape.com/article/135478-overview]"} {"concept_id": "C4024709", "aliases": [], "types": ["T033"], "canonical_name": "Transient hypophosphatemia"} {"concept_id": "C4024710", "aliases": ["Cerebellar cortex degeneration"], "types": ["T047"], "canonical_name": "Cerebellar cortical atrophy", "definition": "Atrophy (wasting) of the cerebellar cortex. [HPO:probinson]"} {"concept_id": "C4024711", "aliases": ["Abnormality of zinc homeostasis"], "types": ["T033"], "canonical_name": "Abnormal blood zinc concentration", "definition": "An abnormality of zinc ion homeostasis. [HPO:probinson]"} {"concept_id": "C4024712", "aliases": ["Abnormal cone-mediated electroretinogram"], "types": ["T033"], "canonical_name": "Abnormal light-adapted electroretinogram"} {"concept_id": "C4024713", "aliases": [], "types": ["T033"], "canonical_name": "Transient aminoaciduria"} {"concept_id": "C4024714", "aliases": [], "types": ["T047"], "canonical_name": "Renal tubular lysine transport defect"} {"concept_id": "C4024715", "aliases": [], "types": ["T033"], "canonical_name": "Mitochondrial lysine transport defect"} {"concept_id": "C4024716", "aliases": [], "types": ["T047"], "canonical_name": "Secondary growth hormone deficiency"} {"concept_id": "C4024717", "aliases": ["Small adrenal medulla"], "types": ["T033"], "canonical_name": "Adrenal medullary hypoplasia", "definition": "Developmental hypoplasia of the adrenal medulla. [HPO:probinson]"} {"concept_id": "C4024718", "aliases": [], "types": ["T191"], "canonical_name": "Multiple pancreatic beta-cell adenomas", "definition": "The presence of multiple pancreatic islet cell adenomas. [HPO:probinsojn]"} {"concept_id": "C4024719", "aliases": ["Small adrenal cortex"], "types": ["T190"], "canonical_name": "Adrenocortical hypoplasia"} {"concept_id": "C4024720", "aliases": ["Decreased Arden ratio of EOG"], "types": ["T033"], "canonical_name": "Decreased Arden ratio of electrooculogram", "definition": "An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. [HPO:probinson]"} {"concept_id": "C4024721", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal cartilage matrix"} {"concept_id": "C4024722", "aliases": [], "types": ["T033"], "canonical_name": "Reduced factor VII activity", "definition": "Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. [HPO:probinson]"} {"concept_id": "C4024723", "aliases": ["Decreased proportion circulating T-helper cells", "Reduced helper T cell proportion"], "types": ["T033"], "canonical_name": "Decreased helper T cell proportion", "definition": "Reduced proportion of helper T cells relative to the total number of T cells. [HPO:probinson]"} {"concept_id": "C4024724", "aliases": ["Absent leukocyte ALP"], "types": ["T033"], "canonical_name": "Absent leukocyte alkaline phosphatase", "definition": "Alkaline phosphatase levels measured within leukocytes is below detectable levels. [HPO:probinson]"} {"concept_id": "C4024725", "aliases": [], "types": ["T033"], "canonical_name": "3-hydroxydicarboxylic aciduria", "definition": "An increase in the level of 3-hydroxydicarboxylic acid in the urine. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4024726", "aliases": [], "types": ["T033"], "canonical_name": "Mucopolysacchariduria", "definition": "Excessive amounts of mucopolysaccharide in the urine. [HPO:probinson]"} {"concept_id": "C4024727", "aliases": [], "types": ["T033"], "canonical_name": "Impaired epinephrine-induced platelet aggregation", "definition": "Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. [DDD:wouwehand]"} {"concept_id": "C4024728", "aliases": [], "types": ["T033"], "canonical_name": "Delayed calcaneal ossification", "definition": "Delayed maturation and calcification of the calcaneus. [HPO:probinson]"} {"concept_id": "C4024729", "aliases": [], "types": ["T190"], "canonical_name": "Distal tapering of metatarsals"} {"concept_id": "C4024730", "aliases": [], "types": ["T033"], "canonical_name": "Calcaneonavicular fusion", "definition": "Synostosis of the calcaneus with the navicular bone. [HPO:probinson]"} {"concept_id": "C4024731", "aliases": [], "types": ["T033"], "canonical_name": "Flexion limitation of toes", "definition": "Limitation of the ability to bend the toes. [HPO:probinson]"} {"concept_id": "C4024732", "aliases": [], "types": ["T047"], "canonical_name": "Ankylosis of feet small joints"} {"concept_id": "C4024733", "aliases": ["Abnormality of the 5th long bone of foot"], "types": ["T190"], "canonical_name": "Abnormality of the fifth metatarsal bone", "definition": "An anomaly of the fifth metatarsal bone. [HPO:probinson]"} {"concept_id": "C4024734", "aliases": ["Low maternal serum estriol"], "types": ["T033"], "canonical_name": "Low maternal serum estriol", "definition": "An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age. [PMID:19038077]"} {"concept_id": "C4024735", "aliases": [], "types": ["T033"], "canonical_name": "Maternal virilization in pregnancy", "definition": "Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum. [HPO:probinson]"} {"concept_id": "C4024736", "aliases": ["Abnormally loose or hyperelastic skin", "Abnormally loose or stretchable skin"], "types": ["T190"], "canonical_name": "Abnormally lax or hyperextensible skin"} {"concept_id": "C4024737", "aliases": ["Absent/underdeveloped skin", "Absent/small skin"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the skin"} {"concept_id": "C4024738", "aliases": ["Absent/small lens", "Absent/underdeveloped lens"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the lens", "definition": "Absence or underdevelopment of the lens. [HPO:probinson]"} {"concept_id": "C4024739", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia affecting the anterior segment of the eye", "definition": "Absence or underdevelopment of the anterior segment of the eye. [HPO:probinson]"} {"concept_id": "C4024740", "aliases": ["Absent/small retina", "Absent/underdeveloped retina"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the retina"} {"concept_id": "C4024741", "aliases": ["Absent/underdeveloped fovea"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the fovea", "definition": "Congenital absence or underdevelopment of the fovea centralis. [HPO:probinson]"} {"concept_id": "C4024742", "aliases": ["Absent/underdeveloped macula"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the macula"} {"concept_id": "C4024743", "aliases": ["Absent/small optic nerve", "Absent/underdeveloped optic nerve"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the optic nerve"} {"concept_id": "C4024744", "aliases": ["Absent/small fundus"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia affecting the fundus"} {"concept_id": "C4024745", "aliases": ["Absent/underdeveloped eye", "Absent/small eye"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia affecting the eye"} {"concept_id": "C4024746", "aliases": ["Absent/underdeveloped uvea"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia affecting the uvea", "definition": "Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. [HPO:probinson]"} {"concept_id": "C4024747", "aliases": ["Abnormal vasculature of the conjunctiva morphology", "Abnormal morphology of the conjunctiva vasculature", "Abnormality of the vasculature of the conjunctiva"], "types": ["T190"], "canonical_name": "Abnormal morphology of the conjunctival vasculature", "definition": "Any abnormality of the blood vessels of the conjunctiva. [HPO:curators]"} {"concept_id": "C4024748", "aliases": ["Absent/small iris", "Absent/underdeveloped iris"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the iris", "definition": "Absence or underdevelopment of the iris. [HPO:probinson]"} {"concept_id": "C4024750", "aliases": ["Abnormality of the palpebral fissures", "Deformity of the palpebral fissures", "Malformation of the palpebral fissures", "Abnormality of the opening between the eyelids"], "types": ["T190"], "canonical_name": "Abnormality of the palpebral fissures", "definition": "An anomaly of the space between the medial and lateral canthi of the two open eyelids. [HPO:probinson]"} {"concept_id": "C4024751", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the extraocular muscles", "definition": "An abnormality of an extraocular muscle. [HPO:probinson]"} {"concept_id": "C4024752", "aliases": ["Abnormality of eye blood vessels"], "types": ["T190"], "canonical_name": "Abnormality of the vasculature of the eye"} {"concept_id": "C4024753", "aliases": ["Abnormality of the retinal vasculature", "Abnormality of retina blood vessels"], "types": ["T190"], "canonical_name": "Abnormal retinal vascular morphology", "definition": "A structural abnormality of retinal vasculature. [HPO:probinson]"} {"concept_id": "C4024754", "aliases": [], "types": ["T047"], "canonical_name": "Horizontal opticokinetic nystagmus"} {"concept_id": "C4024755", "aliases": [], "types": ["T047"], "canonical_name": "Central fundal arteriolar microaneurysms", "definition": "Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc. [HPO:probinson]"} {"concept_id": "C4024756", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of macular pigmentation", "definition": "Abnormality of macular or foveal pigmentation. [DDD:ncarter]"} {"concept_id": "C4024757", "aliases": ["Malformed tear ducts"], "types": ["T190"], "canonical_name": "Malformed lacrimal duct", "definition": "Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies. [HPO:probinson]"} {"concept_id": "C4024758", "aliases": [], "types": ["T033"], "canonical_name": "Intraretinal exudate", "definition": "Retinal exudate within the retinal tissue itself. [HPO:probinson]"} {"concept_id": "C4024759", "aliases": [], "types": ["T033"], "canonical_name": "Macular hypopigmentation", "definition": "Decreased amount of pigmentation in the macula lutea. [DDD:ncarter]"} {"concept_id": "C4024760", "aliases": [], "types": ["T033"], "canonical_name": "Progressive visual field defects"} {"concept_id": "C4024761", "aliases": ["Blocked retinal artery"], "types": ["T033"], "canonical_name": "Retinal arteriolar occlusion", "definition": "Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. [HPO:probinson]"} {"concept_id": "C4024762", "aliases": [], "types": ["T047"], "canonical_name": "Pattern dystrophy of the retina", "definition": "A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation). [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4024763", "aliases": [], "types": ["T046"], "canonical_name": "Optic atrophy from cranial nerve compression"} {"concept_id": "C4024765", "aliases": [], "types": ["T047"], "canonical_name": "Peripapillary chorioretinal atrophy", "definition": "Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head). [HPO:probinson]"} {"concept_id": "C4024767", "aliases": [], "types": ["T033"], "canonical_name": "Dense posterior cortical cataract", "definition": "A type of posterior cortical cataract characterized by dense lenticular opacities. [HPO:probinson]"} {"concept_id": "C4024768", "aliases": [], "types": ["T033"], "canonical_name": "Intermittent microsaccadic pursuits"} {"concept_id": "C4024769", "aliases": ["Fishnet retinal pigmentation", "Honeycomb retinal degeneration"], "types": ["T047"], "canonical_name": "Reticular pigmentary degeneration", "definition": "A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus. [HPO:fprobst, PMID:28114409]"} {"concept_id": "C4024770", "aliases": [], "types": ["T019"], "canonical_name": "Bilateral congenital mydriasis", "definition": "Congenital abnormal dilation of the pupil on both sides. [HPO:probinson]"} {"concept_id": "C4024771", "aliases": [], "types": ["T190"], "canonical_name": "Peripheral retinal detachment", "definition": "Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina. []"} {"concept_id": "C4024772", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal flash visual evoked potentials", "definition": "Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room. [HPO:probinson]"} {"concept_id": "C4024773", "aliases": ["Absent tear duct"], "types": ["T019"], "canonical_name": "Lacrimal duct aplasia", "definition": "A congenital defect resulting in absence of the lacrimal duct. [HPO:probinson]"} {"concept_id": "C4024776", "aliases": [], "types": ["T047"], "canonical_name": "Reticular retinal dystrophy", "definition": "A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation. []"} {"concept_id": "C4024777", "aliases": ["Missing eye muscles"], "types": ["T019"], "canonical_name": "Absent extraocular muscles", "definition": "Congenital absence of the extraocular muscles. [HPO:probinson]"} {"concept_id": "C4024778", "aliases": [], "types": ["T047"], "canonical_name": "Central corneal dystrophy"} {"concept_id": "C4024779", "aliases": [], "types": ["T047"], "canonical_name": "Marginal corneal dystrophy"} {"concept_id": "C4024780", "aliases": ["Almond-shaped opening between the eyelids", "Almond shaped eyes"], "types": ["T033"], "canonical_name": "Almond-shaped palpebral fissure", "definition": "A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. [PMID:19125427]"} {"concept_id": "C4024781", "aliases": [], "types": ["T047"], "canonical_name": "Restrictive partial external ophthalmoplegia", "definition": "Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. [HPO:probinson]"} {"concept_id": "C4024784", "aliases": ["Amyloid deposition in the vitreous humour", "Vitreous amyloid deposits"], "types": ["T033"], "canonical_name": "Amyloid deposition in the vitreous humor", "definition": "Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity. [HPO:probinson]"} {"concept_id": "C4024785", "aliases": ["Increased length of upper eyelashes", "Ciliary trichomegaly of upper eyelashes", "Long upper eyelashes"], "types": ["T033"], "canonical_name": "Long upper eyelashes", "definition": "Increased length of the upper eyelashes. [HPO:probinson]"} {"concept_id": "C4024786", "aliases": [], "types": ["T047"], "canonical_name": "Mosaic corneal dystrophy"} {"concept_id": "C4024787", "aliases": ["S-shaped eyes", "S-shaped opening between the eyelids"], "types": ["T033"], "canonical_name": "S-shaped palpebral fissures"} {"concept_id": "C4024788", "aliases": [], "types": ["T047"], "canonical_name": "Anterior chamber synechiae"} {"concept_id": "C4024789", "aliases": [], "types": ["T047"], "canonical_name": "Nonprogressive restrictive external ophthalmoplegia", "definition": "Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. [HPO:probinson]"} {"concept_id": "C4024790", "aliases": ["Adult-onset night blindness"], "types": ["T047"], "canonical_name": "Adult-onset night blindness", "definition": "Inability to see well at night or in poor light with onset in adulthood. [HPO:probinson]"} {"concept_id": "C4024792", "aliases": [], "types": ["T033"], "canonical_name": "Nodular corneal dystrophy"} {"concept_id": "C4024793", "aliases": [], "types": ["T190"], "canonical_name": "Central retinal exudate"} {"concept_id": "C4024794", "aliases": [], "types": ["T047"], "canonical_name": "Horizontal supranuclear gaze palsy", "definition": "A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. [HPO:probinson]"} {"concept_id": "C4024795", "aliases": [], "types": ["T047"], "canonical_name": "Nongranulomatous uveitis", "definition": "A form of uveitis that is not associated with the formation of granulomas. [HPO:probinson]"} {"concept_id": "C4024796", "aliases": [], "types": ["T190"], "canonical_name": "Punctate corneal dystrophy"} {"concept_id": "C4024799", "aliases": ["Macular retinal pigment epithelial mottling"], "types": ["T033"], "canonical_name": "Granular macular appearance", "definition": "Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea. [HPO:probinson]"} {"concept_id": "C4024800", "aliases": [], "types": ["T033"], "canonical_name": "Patchy atrophy of the retinal pigment epithelium", "definition": "Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas. []"} {"concept_id": "C4024803", "aliases": ["Neovascularization of peripheral and posterior retina", "Posterior retinal neovascularisation"], "types": ["T190"], "canonical_name": "Posterior retinal neovascularization", "definition": "A type of retinal neovascularization that affects the posterior pole of the retina. [HPO:probinson]"} {"concept_id": "C4024807", "aliases": [], "types": ["T019"], "canonical_name": "Monocular horizontal nystagmus"} {"concept_id": "C4024809", "aliases": [], "types": ["T190"], "canonical_name": "Chorioretinal dysplasia", "definition": "Abnormal development of the choroid and retina. [HPO:probinson]"} {"concept_id": "C4024810", "aliases": [], "types": ["T047"], "canonical_name": "Chronic irritative conjunctivitis", "definition": "A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes. [HPO:curators]"} {"concept_id": "C4024811", "aliases": [], "types": ["T033"], "canonical_name": "Peripheral vitreous opacities"} {"concept_id": "C4024812", "aliases": ["Absent inner eyelashes"], "types": ["T033"], "canonical_name": "Absent inner eyelashes"} {"concept_id": "C4024814", "aliases": ["Decreased size of lower eyelid", "Underdevelopment of lower eyelid", "Small lower eyelid"], "types": ["T033"], "canonical_name": "Hypoplasia of the lower eyelids", "definition": "Underdevelopment of the lower eyelid. [HPO:probinson]"} {"concept_id": "C4024816", "aliases": [], "types": ["T033"], "canonical_name": "Depigmented fundus"} {"concept_id": "C4024817", "aliases": ["Vitelliform macular lesions"], "types": ["T033"], "canonical_name": "Vitelliform-like macular lesions", "definition": "Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula. [DDD:gblack, PMID:18289629]"} {"concept_id": "C4024818", "aliases": ["Progressive night blindness"], "types": ["T047"], "canonical_name": "Progressive night blindness"} {"concept_id": "C4024819", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of chorioretinal pigmentation"} {"concept_id": "C4024820", "aliases": [], "types": ["T190"], "canonical_name": "Large hyperpigmented retinal spots"} {"concept_id": "C4024821", "aliases": [], "types": ["T047"], "canonical_name": "Diffuse nuclear cataract", "definition": "Opacity of the entire lens nucleus. [HPO:probinson]"} {"concept_id": "C4024822", "aliases": ["Absent tear gland"], "types": ["T033"], "canonical_name": "Lacrimal gland aplasia", "definition": "A congenital defect of development characterized by absence of the lacrimal gland. [HPO:probinson]"} {"concept_id": "C4024823", "aliases": [], "types": ["T019"], "canonical_name": "Congenital extraocular muscle anomaly", "definition": "Congenital abnormality of the extraocular muscles. [HPO:probinson]"} {"concept_id": "C4024824", "aliases": ["Atrichia of lower eyelashes", "Failure of development of lower eyelashes", "Absent lower eyelashes", "Aplasia of lower eyelashes", "Agenesis of lower eyelashes"], "types": ["T033"], "canonical_name": "Absent lower eyelashes", "definition": "Lack of eyelashes on the lower lid. [HPO:probinson]"} {"concept_id": "C4024825", "aliases": ["Tractional retinal detachment at the periphery of the retina", "Peripheral traction retinal detachment"], "types": ["T033"], "canonical_name": "Peripheral tractional retinal detachment", "definition": "Tractional retinal detachment at the periphery of the retina. []"} {"concept_id": "C4024826", "aliases": ["Abnormal pigmentation in sun-exposed skin"], "types": ["T046"], "canonical_name": "Pigmentation anomalies of sun-exposed skin"} {"concept_id": "C4024827", "aliases": [], "types": ["T033"], "canonical_name": "Telangiectasia of extensor surfaces"} {"concept_id": "C4024828", "aliases": [], "types": ["T033"], "canonical_name": "Fine, reticulate skin pigmentation"} {"concept_id": "C4024829", "aliases": ["Port-wine stain on neck", "Nevus flammeus nuchae"], "types": ["T190"], "definition": "Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. [HPO:sdoelken]", "canonical_name": "Stork bite"} {"concept_id": "C4024830", "aliases": [], "types": ["T047"], "canonical_name": "Spinous keratoses of palms and soles"} {"concept_id": "C4024831", "aliases": [], "types": ["T033"], "canonical_name": "Blotching pigmentation of the skin"} {"concept_id": "C4024832", "aliases": ["Hypoproteinemic oedema"], "types": ["T046"], "canonical_name": "Hypoproteinemic edema", "definition": "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia). [HPO:curators]"} {"concept_id": "C4024833", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal palmar dermal ridges"} {"concept_id": "C4024834", "aliases": [], "types": ["T191"], "canonical_name": "Multiple cutaneous malignancies"} {"concept_id": "C4024835", "aliases": [], "types": ["T190"], "canonical_name": "Complex palmar dermatoglyphic pattern"} {"concept_id": "C4024836", "aliases": ["Generalised reticulate brown pigmentation"], "types": ["T033"], "canonical_name": "Generalized reticulate brown pigmentation"} {"concept_id": "C4024838", "aliases": ["Painful noncancerous fat tissue tumour under the skin", "Painful noncancerous fat tissue tumor under the skin"], "types": ["T191"], "canonical_name": "Painful subcutaneous lipomas", "definition": "The presence of multiple subcutaneous lipoma that cause pain. [HPO:probinson]"} {"concept_id": "C4024839", "aliases": [], "types": ["T033"], "canonical_name": "Telangiectases producing 'marbled' skin"} {"concept_id": "C4024840", "aliases": [], "types": ["T033"], "canonical_name": "Mediosternal, longitudinal streak of hypopigmentation"} {"concept_id": "C4024841", "aliases": [], "types": ["T191"], "canonical_name": "Palmar neurofibromas"} {"concept_id": "C4024842", "aliases": ["Generalised bronze hyperpigmentation"], "types": ["T033"], "canonical_name": "Generalized bronze hyperpigmentation"} {"concept_id": "C4024843", "aliases": [], "types": ["T047"], "canonical_name": "Late onset atopic dermatitis", "definition": "A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis. [PMID:23984225, PMID:27904186]"} {"concept_id": "C4024844", "aliases": ["Generalised seborrheic dermatitis", "Generalized seborrheic eczema", "Generalised seborrheic eczema"], "types": ["T047"], "canonical_name": "Generalized seborrheic dermatitis", "definition": "Seborrheic dermatitis that is not localized to any one particular region. []"} {"concept_id": "C4024845", "aliases": [], "types": ["T047"], "canonical_name": "Index finger dermatoglyphic radial loop"} {"concept_id": "C4024846", "aliases": [], "types": ["T190"], "canonical_name": "Unusual dermatoglyphics"} {"concept_id": "C4024847", "aliases": ["Confetti hypopigmentation pattern of lower leg skin"], "types": ["T033"], "canonical_name": "Confetti hypopigmentation pattern of lower leg skin"} {"concept_id": "C4024848", "aliases": [], "types": ["T047"], "canonical_name": "Absent pigmentation of the ventral chest", "definition": "Lack of skin pigmentation (coloring) of the anterior chest. [HPO:probinson]"} {"concept_id": "C4024849", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia cutis congenita of midline scalp vertex"} {"concept_id": "C4024850", "aliases": [], "types": ["T019"], "canonical_name": "Congenital posterior occipital alopecia", "definition": "Loss of hair in the occipital region of the scalp with congenital onset. [HPO:probinson]"} {"concept_id": "C4024851", "aliases": [], "types": ["T047"], "canonical_name": "Punctate palmoplantar hyperkeratosis"} {"concept_id": "C4024852", "aliases": ["Patchy loss of skin color on arms", "Hypopigmented skin patches on arms", "Patchy loss of skin colour on arms"], "types": ["T033"], "canonical_name": "Hypopigmented skin patches on arms"} {"concept_id": "C4024853", "aliases": ["Increased number of skin folds"], "types": ["T033"], "canonical_name": "Increased number of skin folds"} {"concept_id": "C4024854", "aliases": [], "types": ["T033"], "canonical_name": "Irregular hyperpigmentation of back"} {"concept_id": "C4024856", "aliases": ["Extra skin on fingers"], "types": ["T190"], "canonical_name": "Redundant skin on fingers", "definition": "Loose and sagging skin of the fingers. [HPO:probinson]"} {"concept_id": "C4024857", "aliases": [], "types": ["T047"], "canonical_name": "Punctate palmar hyperkeratosis", "definition": "Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands. []"} {"concept_id": "C4024858", "aliases": ["Missing skin on limbs since birth"], "types": ["T019"], "canonical_name": "Congenital absence of skin of limbs"} {"concept_id": "C4024859", "aliases": [], "types": ["T046"], "canonical_name": "Progressive hyperpigmentation"} {"concept_id": "C4024860", "aliases": [], "types": ["T033"], "canonical_name": "Diffuse slow skin atrophy"} {"concept_id": "C4024861", "aliases": [], "types": ["T033"], "canonical_name": "Streaks of hyperkeratosis along each finger onto the palm"} {"concept_id": "C4024862", "aliases": ["Recurrent staphylococcal infections"], "types": ["T033"], "canonical_name": "Recurrent staphylococcal infections", "definition": "Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections. [ORCID:0000-0001-7941-2961]"} {"concept_id": "C4024863", "aliases": [], "types": ["T047"], "canonical_name": "Diffuse skin atrophy"} {"concept_id": "C4024864", "aliases": [], "types": ["T190"], "canonical_name": "Depigmentation/hyperpigmentation of skin"} {"concept_id": "C4024865", "aliases": ["Generalised papillary lesions"], "types": ["T033"], "canonical_name": "Generalized papillary lesions"} {"concept_id": "C4024866", "aliases": [], "types": ["T033"], "canonical_name": "Axillary and groin hyperpigmentation and hypopigmentation"} {"concept_id": "C4024867", "aliases": [], "types": ["T047"], "canonical_name": "Perifollicular hyperkeratosis", "definition": "Increased amount of keratin (visible as white scales) surrounding hair follicles. [PMID:23044575]"} {"concept_id": "C4024868", "aliases": [], "types": ["T033"], "canonical_name": "Bitot spots of the conjunctiva", "definition": "Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot. [HPO:probinson]"} {"concept_id": "C4024869", "aliases": ["Generalised anhydrosis", "Generalised anhidrosis", "Generalized inability to sweat", "Generalised inability to sweat", "Generalized anhydrosis"], "types": ["T033"], "canonical_name": "Generalized anhidrosis"} {"concept_id": "C4024870", "aliases": [], "types": ["T033"], "canonical_name": "Focal hyperextensible skin"} {"concept_id": "C4024871", "aliases": [], "types": ["T033"], "canonical_name": "Prominent veins on trunk", "definition": "Prominent thoracic and abdominal veins. [HPO:probinson]"} {"concept_id": "C4024872", "aliases": [], "types": ["T047"], "canonical_name": "Progressive reticulate hyperpigmentation"} {"concept_id": "C4024873", "aliases": [], "types": ["T047"], "canonical_name": "Flexural lichenification", "definition": "Lichenification affecting primarily flexural areas of the skin. [HPO:probinson]"} {"concept_id": "C4024874", "aliases": [], "types": ["T033"], "canonical_name": "Ipsilateral lack of facial sweating", "definition": "Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome. [PMID:29763176]"} {"concept_id": "C4024875", "aliases": [], "types": ["T047"], "canonical_name": "Increased groin pigmentation with raindrop depigmentation"} {"concept_id": "C4024876", "aliases": [], "types": ["T033"], "canonical_name": "Palmoplantar blistering", "definition": "A type of blistering that affects the skin of the palms of the hands and the soles of the feet. [HPO:probinson]"} {"concept_id": "C4024877", "aliases": [], "types": ["T033"], "canonical_name": "Hyperpigmented/hypopigmented macules"} {"concept_id": "C4024878", "aliases": ["Generalised hyperpigmentation"], "types": ["T033"], "canonical_name": "Generalized hyperpigmentation"} {"concept_id": "C4024879", "aliases": ["Generalised keratosis follicularis"], "types": ["T047"], "canonical_name": "Generalized keratosis follicularis"} {"concept_id": "C4024880", "aliases": [], "types": ["T190"], "canonical_name": "Hair-nail ectodermal dysplasia"} {"concept_id": "C4024881", "aliases": [], "types": ["T033"], "canonical_name": "Few cafe-au-lait spots", "definition": "The presence of two to five cafe-au-lait macules. [DDD:cmoss]"} {"concept_id": "C4024882", "aliases": ["Angioectasia of the oral mucous membrane", "Angioectasia of the oral mucosa", "Telangiectasia of the oral mucous membrane", "Spider veins of the oral mucosa"], "types": ["T190"], "canonical_name": "Telangiectasia of the oral mucosa", "definition": "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa. [HPO:probinson]"} {"concept_id": "C4024883", "aliases": ["Stretchable face skin", "Hyperelastic face skin"], "types": ["T033"], "canonical_name": "Hyperextensible skin of face"} {"concept_id": "C4024884", "aliases": ["Wrinkled skin of hands and feet in newborn"], "types": ["T033"], "canonical_name": "Neonatal wrinkled skin of hands and feet"} {"concept_id": "C4024885", "aliases": [], "types": ["T190"], "canonical_name": "Macular hyperpigmented dermopathy"} {"concept_id": "C4024886", "aliases": [], "types": ["T033"], "canonical_name": "Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines"} {"concept_id": "C4024888", "aliases": [], "types": ["T033"], "canonical_name": "Asymmetric, linear skin defects"} {"concept_id": "C4024889", "aliases": ["Sun sensitivity occurring early in life"], "types": ["T033"], "canonical_name": "Early cutaneous photosensitivity", "definition": "Photosensitivity of the skin occurring early in life. [HPO:probinson]"} {"concept_id": "C4024890", "aliases": ["Excessive wrinkled skin"], "types": ["T190"], "canonical_name": "Excessive wrinkled skin"} {"concept_id": "C4024891", "aliases": [], "types": ["T047"], "canonical_name": "Hyperkeratosis with erythema"} {"concept_id": "C4024892", "aliases": [], "types": ["T047"], "canonical_name": "Congenital exfoliative erythroderma"} {"concept_id": "C4024894", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the septum pellucidum", "definition": "An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. [HPO:probinson]"} {"concept_id": "C4024895", "aliases": [], "types": ["T190"], "canonical_name": "Atrophy/Degeneration involving the caudate nucleus"} {"concept_id": "C4024896", "aliases": ["Motor neuron degeneration"], "types": ["T047"], "canonical_name": "Motor neuron atrophy", "definition": "Wasting involving the motor neuron. [HPO:probinson]"} {"concept_id": "C4024897", "aliases": [], "types": ["T046"], "canonical_name": "Atrophy/Degeneration involving the corticospinal tracts"} {"concept_id": "C4024898", "aliases": [], "types": ["T046"], "canonical_name": "Atrophy/Degeneration affecting the cerebrum", "definition": "The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. [HPO:probinson]"} {"concept_id": "C4024899", "aliases": ["Atrophy/Degeneration affecting the CNS"], "types": ["T046"], "canonical_name": "Atrophy/Degeneration affecting the central nervous system"} {"concept_id": "C4024900", "aliases": ["Brainstem atrophy"], "types": ["T047"], "canonical_name": "Atrophy/Degeneration affecting the brainstem"} {"concept_id": "C4024901", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia involving the corticospinal tracts"} {"concept_id": "C4024902", "aliases": ["Absent/small cerebrum", "Absent/underdeveloped cerebrum"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the cerebrum"} {"concept_id": "C4024903", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the pyramidal tract"} {"concept_id": "C4024904", "aliases": ["Absent/underdeveloped brainstem", "Absent/small brainstem"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the brainstem"} {"concept_id": "C4024905", "aliases": ["Abnormality of the pons"], "types": ["T190"], "canonical_name": "Abnormal pons morphology", "definition": "A structural abnormality of the pons. [HPO:probinson]"} {"concept_id": "C4024906", "aliases": ["Hemifacial seizures"], "types": ["T047"], "canonical_name": "Focal hemifacial clonic seizure", "definition": "Focal seizure characterized at onset by clonic movements affecting half of the face. [HPO:jalbers, PMID:28276060]"} {"concept_id": "C4024907", "aliases": [], "types": ["T047"], "canonical_name": "Mixed demyelinating and axonal polyneuropathy"} {"concept_id": "C4024908", "aliases": [], "types": ["T033"], "canonical_name": "Rapid neurologic deterioration"} {"concept_id": "C4024909", "aliases": [], "types": ["T033"], "canonical_name": "Chaotic rapid conjugate ocular movements"} {"concept_id": "C4024910", "aliases": [], "types": ["T047"], "canonical_name": "Horizontal jerk nystagmus", "definition": "Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other. [HPO:probinson]"} {"concept_id": "C4024911", "aliases": [], "types": ["T047"], "canonical_name": "Acute infantile spinal muscular atrophy"} {"concept_id": "C4024912", "aliases": [], "types": ["T047"], "canonical_name": "Occipital myelomeningocele"} {"concept_id": "C4024913", "aliases": [], "types": ["T190"], "canonical_name": "Absent mesencephalon", "definition": "Agenesis of the midbrain. [KI:phemming]"} {"concept_id": "C4024914", "aliases": [], "types": ["T190"], "canonical_name": "Symmetric peripheral demyelination", "definition": "A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. [HPO:probinson]"} {"concept_id": "C4024915", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent external ophthalmoplegia", "definition": "Alternating and recurrent weakness of the external ocular muscles. [HPO:probinson]"} {"concept_id": "C4024916", "aliases": ["Decreased number of small peripheral myelinated nerve fibres"], "types": ["T033"], "canonical_name": "Decreased number of small peripheral myelinated nerve fibers"} {"concept_id": "C4024917", "aliases": [], "types": ["T019"], "canonical_name": "Congenital encephalopathy"} {"concept_id": "C4024918", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent subcortical infarcts"} {"concept_id": "C4024919", "aliases": [], "types": ["T047"], "canonical_name": "Spinocerebellar tract disease in lower limbs"} {"concept_id": "C4024920", "aliases": [], "types": ["T033"], "canonical_name": "Decreased distal sensory nerve action potential", "definition": "A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. [HPO:probinson]"} {"concept_id": "C4024921", "aliases": [], "types": ["T047"], "canonical_name": "Lower limb amyotrophy", "definition": "Muscular atrophy affecting the lower limb. [HPO:probinson]"} {"concept_id": "C4024922", "aliases": [], "types": ["T190"], "canonical_name": "Irregular myelin loops", "definition": "Presence of irregular redundant loops of focally folded myelin in a peripheral nerve. [PMID:20301641, PMID:8817346]"} {"concept_id": "C4024923", "aliases": [], "types": ["T190"], "canonical_name": "Diffuse white matter abnormalities"} {"concept_id": "C4024924", "aliases": ["Plaque build-up in cerebral artery"], "types": ["T047"], "canonical_name": "Cerebral artery atherosclerosis", "definition": "Atherosclerosis (HP:0002621) of a cerebral artery. [HPO:probinson]"} {"concept_id": "C4024925", "aliases": [], "types": ["T047"], "canonical_name": "Episodic hypersomnia"} {"concept_id": "C4024926", "aliases": [], "types": ["T033"], "canonical_name": "Focal T2 hyperintense basal ganglia lesion", "definition": "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. [HPO:probinson]"} {"concept_id": "C4024927", "aliases": [], "types": ["T033"], "canonical_name": "Peripheral hypomyelination", "definition": "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. [HPO:probinson]"} {"concept_id": "C4024928", "aliases": [], "types": ["T033"], "canonical_name": "Absent smooth pursuit", "definition": "A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. [HPO:probinson]"} {"concept_id": "C4024929", "aliases": ["Slowed slurred speech"], "types": ["T033"], "canonical_name": "Slowed slurred speech"} {"concept_id": "C4024930", "aliases": [], "types": ["T190"], "canonical_name": "Diffuse demyelination of the cerebral white matter", "definition": "A diffuse loss of myelin from nerve fibers in the central nervous system. [HPO:probinson]"} {"concept_id": "C4024931", "aliases": [], "types": ["T190"], "canonical_name": "Asymmetric limb muscle stiffness", "definition": "Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern. [HPO:probinson]"} {"concept_id": "C4024932", "aliases": [], "types": ["T033"], "canonical_name": "Bilateral basal ganglia lesions"} {"concept_id": "C4024933", "aliases": [], "types": ["T190"], "canonical_name": "Acute demyelinating polyneuropathy", "definition": "Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration. [HPO:probinson]"} {"concept_id": "C4024934", "aliases": [], "types": ["T191"], "canonical_name": "Cerebellar medulloblastoma"} {"concept_id": "C4024935", "aliases": [], "types": ["T047"], "definition": "A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change. [HPO:probinson, PMID:4819905]", "canonical_name": "Subcortical dementia"} {"concept_id": "C4024936", "aliases": [], "types": ["T047"], "canonical_name": "Temporal cortical atrophy", "definition": "Atrophy of the temporal cortex. [HPO:probinson]"} {"concept_id": "C4024937", "aliases": [], "types": ["T047"], "canonical_name": "Chronic hepatic encephalopathy"} {"concept_id": "C4024938", "aliases": [], "types": ["T033"], "canonical_name": "Segmental peripheral demyelination", "definition": "A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system. [HPO:probinson]"} {"concept_id": "C4024939", "aliases": [], "types": ["T033"], "canonical_name": "Prolonged somatosensory evoked potentials"} {"concept_id": "C4024940", "aliases": [], "types": ["T033"], "canonical_name": "Cranial nerve motor loss"} {"concept_id": "C4024941", "aliases": [], "types": ["T033"], "canonical_name": "Dilated third ventricle", "definition": "An increase in size of the third ventricle. [HPO:probinson]"} {"concept_id": "C4024942", "aliases": [], "types": ["T047"], "canonical_name": "Late-onset muscular dystrophy"} {"concept_id": "C4024943", "aliases": [], "types": ["T033"], "canonical_name": "Decreased amplitude of sensory action potentials", "definition": "A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. [HPO:probinson]"} {"concept_id": "C4024944", "aliases": [], "types": ["T047"], "canonical_name": "Profound static encephalopathy"} {"concept_id": "C4024945", "aliases": ["Generalized cerebral degeneration/underdevelopment", "Generalised cerebral atrophy/hypoplasia", "Generalised cerebral degeneration/underdevelopment"], "types": ["T019"], "canonical_name": "Generalized cerebral atrophy/hypoplasia", "definition": "Generalized atrophy or hypoplasia of the cerebrum. [HPO:sdoelken]"} {"concept_id": "C4024946", "aliases": [], "types": ["T033"], "canonical_name": "Focal white matter lesions"} {"concept_id": "C4024947", "aliases": [], "types": ["T047"], "canonical_name": "Symmetric lesions of the basal ganglia"} {"concept_id": "C4024948", "aliases": [], "types": ["T019"], "canonical_name": "Anterior encephalocele"} {"concept_id": "C4024949", "aliases": ["Generalised hyperreflexia"], "types": ["T033"], "canonical_name": "Generalized hyperreflexia"} {"concept_id": "C4024950", "aliases": [], "types": ["T047"], "canonical_name": "Nonprogressive encephalopathy"} {"concept_id": "C4024951", "aliases": [], "types": ["T190"], "canonical_name": "Poorly formed metencephalon", "definition": "A morphological abnormality of the metencephalon. [HPO:probinson]"} {"concept_id": "C4024952", "aliases": [], "types": ["T047"], "canonical_name": "Cavitation of the basal ganglia", "definition": "The formation of small cavities in the tissue of the basal ganglia. [HPO:probinson, PMID:8516046]"} {"concept_id": "C4024953", "aliases": [], "types": ["T046"], "canonical_name": "Dorsal column degeneration"} {"concept_id": "C4024954", "aliases": [], "types": ["T046"], "canonical_name": "Myelin-dependent gliosis", "definition": "A type of gliosis that occurs in the vicinity of injured neurons. [HPO:probinson]"} {"concept_id": "C4024955", "aliases": [], "types": ["T033"], "canonical_name": "Slowly progressive spastic quadriparesis"} {"concept_id": "C4024956", "aliases": ["Grammar-specific speech disorder"], "types": ["T047"], "canonical_name": "Grammar-specific speech disorder"} {"concept_id": "C4024957", "aliases": [], "types": ["T047"], "definition": "Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. [HPO:curators]", "canonical_name": "Proximal spinal muscular atrophy"} {"concept_id": "C4024958", "aliases": [], "types": ["T048"], "canonical_name": "Transient psychotic episodes"} {"concept_id": "C4024959", "aliases": [], "types": ["T019"], "canonical_name": "Frontoparietal cortical dysplasia", "definition": "The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe. [HPO:probinson]"} {"concept_id": "C4024960", "aliases": [], "types": ["T047"], "definition": "Excessive number of small gyri (convolutions) on the surface of one side of the brain. [HPO:probinson]", "canonical_name": "Unilateral polymicrogyria"} {"concept_id": "C4024961", "aliases": [], "types": ["T047"], "canonical_name": "Metachromatic leukodystrophy variant"} {"concept_id": "C4024962", "aliases": [], "types": ["T033"], "canonical_name": "Axial muscle stiffness", "definition": "Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature. [HPO:probinson]"} {"concept_id": "C4024963", "aliases": ["Abnormal aggressive, impulsive or violent behaviour"], "types": ["T046"], "canonical_name": "Abnormal aggressive, impulsive or violent behavior"} {"concept_id": "C4024964", "aliases": [], "types": ["T033"], "canonical_name": "Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material", "definition": "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons. [HPO:probinson]"} {"concept_id": "C4024965", "aliases": ["Frontal cortex degeneration"], "types": ["T190"], "canonical_name": "Frontal cortical atrophy", "definition": "Atrophy of the frontal cortex. [HPO:probinson]"} {"concept_id": "C4024966", "aliases": [], "types": ["T019"], "canonical_name": "Congenital intracerebral calcification", "definition": "The presence of calcium deposition within brain structures that is present already at the time of birth. [HPO:probinson]"} {"concept_id": "C4024967", "aliases": [], "types": ["T047"], "canonical_name": "Congenital peripheral neuropathy"} {"concept_id": "C4024970", "aliases": [], "types": ["T190"], "canonical_name": "Thick cerebral cortex"} {"concept_id": "C4024971", "aliases": [], "types": ["T046"], "canonical_name": "Diffuse peripheral demyelination", "definition": "A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. [HPO:probinson]"} {"concept_id": "C4024972", "aliases": [], "types": ["T047"], "canonical_name": "Symmetrical progressive peripheral demyelination", "definition": "A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. [HPO:probinson]"} {"concept_id": "C4024973", "aliases": ["Midline CNS lipomas"], "types": ["T191"], "canonical_name": "Midline central nervous system lipomas"} {"concept_id": "C4024974", "aliases": [], "types": ["T190"], "canonical_name": "Sensorimotor polyneuropathy affecting arms more than legs"} {"concept_id": "C4024975", "aliases": [], "types": ["T047"], "canonical_name": "Posterior leukoencephalopathy"} {"concept_id": "C4024976", "aliases": ["Episodic generalised hypotonia"], "types": ["T190"], "canonical_name": "Episodic generalized hypotonia", "definition": "The occurrence of repeated episodes of generalized muscular hypotonia. [HPO:curators]"} {"concept_id": "C4024978", "aliases": [], "types": ["T048"], "canonical_name": "Vivid hallucinations"} {"concept_id": "C4024979", "aliases": [], "types": ["T191"], "canonical_name": "Ovarian papillary adenocarcinoma", "definition": "The presence of a papillary adenocarcinoma of the ovary. [HPO:probinson]"} {"concept_id": "C4024980", "aliases": [], "types": ["T191"], "canonical_name": "Cutaneous angiolipomas"} {"concept_id": "C4024981", "aliases": ["Localised neuroblastoma"], "types": ["T191"], "canonical_name": "Localized neuroblastoma"} {"concept_id": "C4024982", "aliases": [], "types": ["T191"], "canonical_name": "Anal canal squamous carcinoma"} {"concept_id": "C4024983", "aliases": [], "types": ["T191"], "canonical_name": "Renal pelvic carcinoma", "definition": "The presence of a carcinoma in the renal pelvis. [HPO:probinson]"} {"concept_id": "C4024984", "aliases": [], "types": ["T191"], "canonical_name": "Diffuse leiomyomatosis"} {"concept_id": "C4024985", "aliases": [], "types": ["T191"], "canonical_name": "Paraspinal neurofibromas"} {"concept_id": "C4024986", "aliases": [], "types": ["T191"], "canonical_name": "Congenital neuroblastoma"} {"concept_id": "C4024987", "aliases": [], "types": ["T191"], "canonical_name": "Retroperitoneal chemodectomas"} {"concept_id": "C4024988", "aliases": [], "types": ["T191"], "canonical_name": "Intestinal carcinoid"} {"concept_id": "C4024989", "aliases": [], "types": ["T191"], "canonical_name": "Hereditary nonpolyposis colorectal carcinoma"} {"concept_id": "C4024990", "aliases": ["Absent/underdeveloped sternum", "Absent/small sternum"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the sternum"} {"concept_id": "C4024991", "aliases": ["Absent/underdeveloped shoulder blade", "Absent/small shoulder blade"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the scapulae"} {"concept_id": "C4024992", "aliases": ["Absent/underdeveloped thorax bone", "Absent/small outermost thorax bone"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia involving bones of the thorax"} {"concept_id": "C4024993", "aliases": ["Absent/small collarbone", "Absent/underdeveloped collarbone"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the clavicles", "definition": "Absence or underdevelopment of the clavicles (collar bones). [HPO:curators]"} {"concept_id": "C4024994", "aliases": ["Abnormality of the liver vasculature", "Abnormality of liver blood vessels"], "types": ["T190"], "canonical_name": "Abnormality of the hepatic vasculature", "definition": "An abnormality of the hepatic vasculature. [HPO:probinson]"} {"concept_id": "C4024995", "aliases": ["Abnormality of the atrioventricular valves"], "types": ["T190"], "canonical_name": "Abnormal atrioventricular valve morphology", "definition": "An abnormality of an atrioventricular valve. [HPO:probinson]"} {"concept_id": "C4024996", "aliases": ["Absent/underdeveloped lungs", "Absent/small lungs"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the lungs"} {"concept_id": "C4024998", "aliases": [], "types": ["T047"], "canonical_name": "Polymorphic and polytopic ventricular extrasystoles"} {"concept_id": "C4024999", "aliases": [], "types": ["T047"], "canonical_name": "Early progressive calcific cardiac valvular disease"} {"concept_id": "C4025000", "aliases": [], "types": ["T033"], "canonical_name": "Myocardial steatosis", "definition": "Steatosis in the myocardium. [HPO:probinson]"} {"concept_id": "C4025001", "aliases": [], "types": ["T190"], "canonical_name": "Short chordae tendineae of the tricuspid valve", "definition": "Abnormally short chordae tendineae of the tricuspid valve. [HPO:probinson]"} {"concept_id": "C4025002", "aliases": [], "types": ["T191"], "canonical_name": "Pulmonic valve myxoma"} {"concept_id": "C4025003", "aliases": [], "types": ["T190"], "canonical_name": "Aortic tortuosity", "definition": "Abnormal tortuous (i.e., twisted) form of the aorta. [HPO:probinson]"} {"concept_id": "C4025004", "aliases": [], "types": ["T033"], "canonical_name": "Ventricular preexcitation with multiple accessory pathways", "definition": "A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction. [HPO:probinson]"} {"concept_id": "C4025005", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ventricular filling", "definition": "An abnormality of filling of a ventricle with blood during diastole. [HPO:probinson]"} {"concept_id": "C4025006", "aliases": [], "types": ["T033"], "canonical_name": "Absent atrioventricular node"} {"concept_id": "C4025007", "aliases": [], "types": ["T047"], "canonical_name": "Granulomatous coronary arteritis", "definition": "Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. [HPO:probinson, PMID:937513]"} {"concept_id": "C4025008", "aliases": [], "types": ["T046"], "canonical_name": "Reduced systolic function"} {"concept_id": "C4025009", "aliases": [], "types": ["T047"], "canonical_name": "Impaired myocardial contractility"} {"concept_id": "C4025010", "aliases": ["Coat hanger sign of ribs"], "types": ["T190"], "canonical_name": "Coat hanger sign of ribs", "definition": "An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger). [HPO:probinson, PMID:12712270, PMID:21607596]"} {"concept_id": "C4025011", "aliases": [], "types": ["T019"], "canonical_name": "Congenital microthorax"} {"concept_id": "C4025012", "aliases": ["Prominent floating ribs"], "types": ["T033"], "canonical_name": "Prominent floating ribs"} {"concept_id": "C4025013", "aliases": ["Increased bone density in ribs"], "types": ["T047"], "canonical_name": "Osteosclerosis of ribs", "definition": "Osteosclerosis of ribs (increased density related to increased bone mass). [HPO:probinson]"} {"concept_id": "C4025014", "aliases": ["Small outermost segments of shoulder blade", "Underdeveloped outermost segments of shoulder blade", "Small distal segments of the shoulder blade"], "types": ["T190"], "canonical_name": "Hypoplastic distal segments of scapulae"} {"concept_id": "C4025015", "aliases": ["Restricted chest movement"], "types": ["T033"], "canonical_name": "Restricted chest movement"} {"concept_id": "C4025016", "aliases": ["Straight collarbone"], "types": ["T190"], "canonical_name": "Straight clavicles", "definition": "An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . [HPO:probinson]"} {"concept_id": "C4025017", "aliases": ["Fatal liver failure in infancy"], "types": ["T033"], "canonical_name": "Fatal liver failure in infancy"} {"concept_id": "C4025018", "aliases": [], "types": ["T033"], "canonical_name": "Depletion of mitochondrial DNA in liver", "definition": "An abnormal reduction in the number of mitochondria in hepatocytes. [HPO:probinson]"} {"concept_id": "C4025019", "aliases": [], "types": ["T047"], "canonical_name": "Intrahepatic cholestasis with episodic jaundice"} {"concept_id": "C4025020", "aliases": ["Acute fatty liver"], "types": ["T047"], "canonical_name": "Acute hepatic steatosis", "definition": "An acute form of hepatic steatosis. [HPO:probinson]"} {"concept_id": "C4025021", "aliases": [], "types": ["T033"], "canonical_name": "Increased hepatocellular lipid droplets", "definition": "An abnormal increase in the amount of intracellular lipid droplets in hepatocytes. [HPO:probinson]"} {"concept_id": "C4025022", "aliases": [], "types": ["T033"], "canonical_name": "Decreased mitochondrial complex III activity in liver tissue", "definition": "Decreased activity of complex III of the mitochondrion in the liver. [HPO:probinson]"} {"concept_id": "C4025023", "aliases": [], "types": ["T019"], "canonical_name": "Extrapulmonary sequestrum", "definition": "A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree. [HPO:probinson]"} {"concept_id": "C4025024", "aliases": ["Underdevelopment of the bronical cartilage"], "types": ["T033"], "canonical_name": "Bronchial cartilage hypoplasia"} {"concept_id": "C4025025", "aliases": [], "types": ["T190"], "canonical_name": "Bronchodysplasia"} {"concept_id": "C4025026", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal pulmonary lymphatics", "definition": "An abnormality of the pulmonary lymphatic chain. [HPO:probinson]"} {"concept_id": "C4025027", "aliases": ["Repeated pneumothorax"], "types": ["T047"], "canonical_name": "Repeated pneumothoraces"} {"concept_id": "C4025028", "aliases": [], "types": ["T033"], "canonical_name": "Intraalveolar nodular calcifications"} {"concept_id": "C4025030", "aliases": ["Abnormality of end part of shinbone"], "types": ["T190"], "canonical_name": "Abnormality of tibial epiphyses"} {"concept_id": "C4025031", "aliases": ["Absent/small long bone in upper arm", "Absent/underdeveloped long bone in upper arm"], "types": ["T033"], "canonical_name": "Aplasia/hypoplasia of the humerus", "definition": "Absence (due to failure to form) or underdevelopment of the humerus. [HPO:probinson]"} {"concept_id": "C4025032", "aliases": ["Absent/small forearm bones", "Absent/underdeveloped forearm bones"], "types": ["T033"], "canonical_name": "Aplasia/hypoplasia involving forearm bones", "definition": "Absence (due to failure to form) or underdevelopment of one or more forearm bones. [HPO:probinson]"} {"concept_id": "C4025033", "aliases": ["Absent/small wrist bones", "Absent/underdeveloped wrist bones"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia involving the carpal bones", "definition": "Absence or underdevelopment of the carpal bones. [HPO:curators]"} {"concept_id": "C4025034", "aliases": ["Abnormality of thighbone end part"], "types": ["T190"], "canonical_name": "Abnormality of femoral epiphysis", "definition": "An anomaly of a growth plate of a femur. [HPO:probinson]"} {"concept_id": "C4025035", "aliases": ["Absent/small bones of the upper limbs", "Absent/underdeveloped bones of the upper limbs"], "types": ["T033"], "canonical_name": "Aplasia/hypoplasia involving bones of the upper limbs", "definition": "Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. [HPO:probinson]"} {"concept_id": "C4025036", "aliases": ["Absent/small foot bones", "Absent/underdeveloped foot bones"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia involving bones of the feet"} {"concept_id": "C4025037", "aliases": ["Absent/small lower limb bones", "Absent/underdeveloped lower limb bones"], "types": ["T033"], "canonical_name": "Aplasia/hypoplasia involving bones of the lower limbs", "definition": "Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. [HPO:probinson]"} {"concept_id": "C4025038", "aliases": ["Abnormality of the wide portion of shinbone", "Abnormality of the wide portion of shankbone"], "types": ["T190"], "canonical_name": "Abnormality of the tibial metaphysis"} {"concept_id": "C4025039", "aliases": ["Abnormality of the wide portion of the lower-limb bone"], "types": ["T190"], "canonical_name": "Abnormality of lower-limb metaphyses"} {"concept_id": "C4025040", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the femoral metaphysis", "definition": "An anomaly of the femoral metaphysis. [HPO:probinson]"} {"concept_id": "C4025042", "aliases": ["Abnormality of the dental pulp", "Endodontic abnormality", "Abnormality of tooth pulp"], "types": ["T033"], "canonical_name": "Abnormal dental pulp morphology", "definition": "An abnormality of the dental pulp. [HPO:ibailleulforestier]"} {"concept_id": "C4025043", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the pancreatic islet cells", "definition": "An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. [HPO:probinson]"} {"concept_id": "C4025044", "aliases": [], "types": ["T033"], "canonical_name": "Fixed elbow flexion"} {"concept_id": "C4025045", "aliases": ["Irregular innermost shankbone end part", "Irregular innermost shinbone end part"], "types": ["T190"], "canonical_name": "Irregular proximal tibial epiphyses", "definition": "Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. [HPO:probinson]"} {"concept_id": "C4025046", "aliases": ["Dysplastic radii", "Radial longitudinal deficiency"], "types": ["T190"], "canonical_name": "Radial dysplasia", "definition": "Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia. [PMID:29257019]"} {"concept_id": "C4025047", "aliases": ["Abnormal wide portion of innermost thighbone"], "types": ["T190"], "canonical_name": "Proximal femoral metaphyseal abnormality", "definition": "An anomaly of the metaphysis of the proximal femur (close to the hip). [HPO:probinson]"} {"concept_id": "C4025048", "aliases": [], "types": ["T190"], "canonical_name": "Elongated radius", "definition": "Increased length of the radius. [HPO:probinson]"} {"concept_id": "C4025049", "aliases": ["Tapering of outermost end of thighbone"], "types": ["T190"], "canonical_name": "Distal tapering femur"} {"concept_id": "C4025050", "aliases": ["Irregular outermost thighbone end part"], "types": ["T190"], "canonical_name": "Irregular distal femoral epiphysis", "definition": "Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. [HPO:probinson]"} {"concept_id": "C4025051", "aliases": [], "types": ["T047"], "canonical_name": "Osteolysis of patellae"} {"concept_id": "C4025052", "aliases": ["Dumbbell-shaped thighbone"], "types": ["T190"], "canonical_name": "Dumbbell-shaped femur", "definition": "The femur is shortened and displays flaring (widening) of the metaphyses. [HPO:probinson]"} {"concept_id": "C4025053", "aliases": ["Broad shaft of long bone", "Wide shaft of long bone"], "types": ["T190"], "canonical_name": "Broad long bone diaphyses", "definition": "Increased width of the diaphysis of long bones. [HPO:probinson]"} {"concept_id": "C4025054", "aliases": ["Failure of development of mandibular central incisor"], "types": ["T190"], "canonical_name": "Agenesis of mandibular central incisor", "definition": "Agenesis of lower secondary incisor or lower primary incisor. [HPO:ibailleulforestier]"} {"concept_id": "C4025055", "aliases": ["Underdevelopment of tooth bud", "Decreased size of tooth germ", "Hypoplastic tooth buds", "Hypotrophic tooth germ", "Small tooth bud", "Small tooth germ", "Decreased size of tooth bud", "Underdevelopment of tooth germ"], "types": ["T033"], "canonical_name": "Hypoplasia of the tooth germ", "definition": "Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth. [HPO:ibailleulforestier]"} {"concept_id": "C4025056", "aliases": ["Failure of eruption of adult teeth"], "types": ["T190"], "canonical_name": "Failure of eruption of permanent teeth", "definition": "Lack of tooth eruption of the secondary dentition. [HPO:ibailleulforestier]"} {"concept_id": "C4025057", "aliases": ["Reduced size of pulp chamber of tooth", "Pulp obliteration", "Obliteration of the pulp chamber", "Small pulp chamber of tooth"], "types": ["T033"], "definition": "Mineralized substance filling the entire dental pulp space. [PMID:162890, PMID:31468724]", "canonical_name": "Pulp canal obliteration"} {"concept_id": "C4025058", "aliases": ["Screwdriver-shaped incisors", "Screwdriver shaped front teeth"], "types": ["T190"], "canonical_name": "Screwdriver-shaped incisors", "definition": "An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape. [HPO:ibailleulforestier]"} {"concept_id": "C4025059", "aliases": ["Abnormality of shape of baby molar", "Abnormality of shape of primary molar", "Abnormality of deciduous molar morphology"], "types": ["T190"], "canonical_name": "Abnormality of primary molar morphology", "definition": "An abnormality of morphology of primary molar. [HPO:ibailleulforestier]"} {"concept_id": "C4025060", "aliases": ["Conical maxillary lateral incisors", "Pointed upper lateral incisors", "Peg laterals", "Peg shaped upper lateral incisors", "Cone shaped upper lateral incisors", "Conoid upper lateral incisors"], "types": ["T033"], "canonical_name": "Peg-shaped maxillary lateral incisors", "definition": "A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter [HPO:ibailleulforestier, PMID:31468724]"} {"concept_id": "C4025061", "aliases": ["Malformation of lower premolar", "Malformation of mandibular bicuspid"], "types": ["T190"], "canonical_name": "Malformation of mandibular premolar", "definition": "An abnormality of the morphology of secondary premolar tooth. [HPO:ibailleulforestier]"} {"concept_id": "C4025062", "aliases": ["Extra upper front tooth"], "types": ["T190"], "canonical_name": "Supernumerary maxillary incisor", "definition": "The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor. [HPO:ibailleulforestier]"} {"concept_id": "C4025063", "aliases": ["Rotated upper front teeth", "Twisted upper front teeth", "Rotated upper central incisors", "Turned upper front teeth"], "types": ["T033"], "canonical_name": "Rotated maxillary central incisors"} {"concept_id": "C4025064", "aliases": ["Unerupted teeth due to mucopolysaccharidoses", "Impacted teeth due to mucopolysaccharidoses", "Failure of dental eruption due to mucopolysaccharidoses", "Unerupted dentition due to mucopolysaccharidoses", "Failure of tooth eruption due to mucopolysaccharidoses"], "types": ["T033"], "canonical_name": "Buried teeth encased in mucopolysaccharide"} {"concept_id": "C4025065", "aliases": ["Hypotrophy of all teeth", "Decreased size of all teeth", "Tooth mass insufficiency", "Decreased tooth mass", "Generalised microdontia", "Decreased width of all teeth"], "types": ["T033"], "canonical_name": "Generalized microdontia", "definition": "A generalized form of microdontia. [HPO:ibailleulforestier]"} {"concept_id": "C4025067", "aliases": ["Dagger shaped pulp stones", "Dagger shaped pulp denticles"], "types": ["T033"], "canonical_name": "Dagger-shaped pulp calcifications", "definition": "Dagger-shaped calcifications in the dental pulp. [HPO:ibailleulforestier]"} {"concept_id": "C4025068", "aliases": ["Failure of development of maxillary central incisor"], "types": ["T033"], "canonical_name": "Agenesis of maxillary central incisor", "definition": "Agenesis of upper secondary incisor or of upper central primary incisor. [HPO:ibailleulforestier]"} {"concept_id": "C4025069", "aliases": ["Multiple non-erupting teeth", "Multiple unerupted teeth", "Failure of eruption of multiple teeth"], "types": ["T033"], "canonical_name": "Multiple unerupted teeth", "definition": "The presence of multiple embedded tooth germs which have failed to erupt. [HPO:ibailleulforestier]"} {"concept_id": "C4025070", "aliases": ["Generalized hypoplasia of tooth enamel", "Generalised hypoplasia of dental enamel", "Generalised hypoplasia of tooth enamel"], "types": ["T190"], "canonical_name": "Generalized hypoplasia of dental enamel", "definition": "A generalized form of developmental hypoplasia of the dental enamel. [HPO:ibailleulforestier]"} {"concept_id": "C4025071", "aliases": ["Absent/underdeveloped fingers", "Absent/small fingers"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of fingers", "definition": "Small/hypoplastic or absent/aplastic fingers. [HPO:curators]"} {"concept_id": "C4025072", "aliases": ["Absent/small index finger", "Absent/underdeveloped index finger"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the 2nd finger", "definition": "A small/hypoplastic or absent/aplastic 2nd finger. [HPO:curators]"} {"concept_id": "C4025073", "aliases": ["Abnormality of the end part of the index finger bone"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the 2nd finger", "definition": "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger. [HPO:curators]"} {"concept_id": "C4025074", "aliases": ["Absent/underdeveloped little finger", "Absent/underdeveloped pinkie finger", "Absent/underdeveloped pinky finger", "Absent/small pinky finger", "Absent/small pinkie finger", "Absent/small little finger"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the 5th finger", "definition": "A small/hypoplastic or absent/aplastic 5th finger. [HPO:sdoelken]"} {"concept_id": "C4025075", "aliases": ["Abnormal wrist bone maturation", "Abnormal maturation of ankle bones"], "types": ["T033"], "canonical_name": "Abnormality of carpal bone ossification"} {"concept_id": "C4025076", "aliases": ["Abnormality of hand joint mobility"], "types": ["T033"], "canonical_name": "Abnormality of hand joint mobility"} {"concept_id": "C4025077", "aliases": ["Slender long bones of hand"], "types": ["T190"], "canonical_name": "Slender metacarpals", "definition": "Decreased width of the metacarpal bones (that is, reduced diameter). [HPO:probinson]"} {"concept_id": "C4025078", "aliases": [], "types": ["T190"], "canonical_name": "Tapering pointed ends of distal finger phalanges", "definition": "A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms). [HPO:probinson, PMID:10662807]"} {"concept_id": "C4025079", "aliases": ["Thin innermost bone with broad end part of the hand bone"], "types": ["T190"], "canonical_name": "Thin proximal phalanges with broad epiphyses of the hand"} {"concept_id": "C4025080", "aliases": [], "types": ["T190"], "canonical_name": "Hypersegmentation of proximal phalanx of second finger", "definition": "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger. [HPO:probinson]"} {"concept_id": "C4025081", "aliases": ["Irregular finger bones"], "types": ["T190"], "canonical_name": "Irregular phalanges", "definition": "Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance. [HPO:probinson]"} {"concept_id": "C4025082", "aliases": [], "types": ["T047"], "canonical_name": "Osteolysis of scaphoids"} {"concept_id": "C4025083", "aliases": ["Thimble-shaped middle bones of hand"], "types": ["T190"], "canonical_name": "Thimble-shaped middle phalanges of hand", "definition": "The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat. [HPO:probinson]"} {"concept_id": "C4025084", "aliases": ["Tapered finger bone"], "types": ["T190"], "canonical_name": "Tapered phalanx of finger", "definition": "Phalanges of the fingers becoming thinner toward the distal end. [HPO:probinson]"} {"concept_id": "C4025085", "aliases": ["Prominent innermost hinge joints"], "types": ["T190"], "canonical_name": "Prominent proximal interphalangeal joints"} {"concept_id": "C4025086", "aliases": ["Irregular long bones of hand"], "types": ["T190"], "canonical_name": "Irregular metacarpals", "definition": "Irregular morphology of one or more metacarpal bones. [HPO:probinson]"} {"concept_id": "C4025087", "aliases": ["Long finger bone"], "types": ["T190"], "canonical_name": "Long phalanx of finger", "definition": "Increased length of multiple or a single phalanx of finger. [HPO:probinson]"} {"concept_id": "C4025088", "aliases": ["Broad end part of long bone of hand"], "types": ["T190"], "canonical_name": "Broad metacarpal epiphyses", "definition": "Increased side-to-side width of the metacarpal epiphyses. [HPO:probinson]"} {"concept_id": "C4025089", "aliases": ["Shortening of all innermost bones of the fingers"], "types": ["T190"], "canonical_name": "Shortening of all proximal phalanges of the fingers", "definition": "Congenital hypoplasia of proximal phalanx of finger or all fingers. [HPO:probinson]"} {"concept_id": "C4025090", "aliases": ["Long innermost finger bone"], "types": ["T190"], "canonical_name": "Long proximal phalanx of finger", "definition": "Increased length of the proximal phalanx of finger. [HPO:probinson]"} {"concept_id": "C4025091", "aliases": ["Tapered long bones of hand"], "types": ["T033"], "canonical_name": "Tapered metacarpals", "definition": "Metacarpal that becomes thinner toward the distal end. [HPO:probinson]"} {"concept_id": "C4025092", "aliases": [], "types": ["T190"], "canonical_name": "Metacarpophalangeal joint hyperextensibility", "definition": "Increased mobility of one ore more metacarpophalangeal joint. [HPO:probinson]"} {"concept_id": "C4025093", "aliases": ["Short, cube shaped long bone of hand"], "types": ["T190"], "canonical_name": "Cuboidal metacarpal", "definition": "Severely shortened metacarpal with a cuboidal appearance. [HPO:probinson]"} {"concept_id": "C4025094", "aliases": [], "types": ["T033"], "canonical_name": "Reduced phenylalanine hydroxylase level", "definition": "A reduction in phenylalanine 4-monooxygenase level. [HPO:probinson]"} {"concept_id": "C4025095", "aliases": ["Low blood arginine levels"], "types": ["T033"], "canonical_name": "Hypoargininemia", "definition": "A decreased concentration of arginine in the blood. [HPO:gcarletti]"} {"concept_id": "C4025096", "aliases": [], "types": ["T033"], "canonical_name": "Progressive inspiratory stridor"} {"concept_id": "C4025097", "aliases": [], "types": ["T033"], "canonical_name": "Ventilator dependence with inability to wean"} {"concept_id": "C4025098", "aliases": [], "types": ["T033"], "canonical_name": "Intermittent hyperpnea at rest"} {"concept_id": "C4025099", "aliases": [], "types": ["T047"], "canonical_name": "Multiple bilateral pneumothoraces"} {"concept_id": "C4025100", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal respiratory motile cilium morphology", "definition": "Abnormal arrangement of the structures of the motile cilium. [HPO:probinson, MP:0011050]"} {"concept_id": "C4025101", "aliases": [], "types": ["T033"], "canonical_name": "Imperfect vocal cord adduction"} {"concept_id": "C4025102", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal renal corticomedullary differentiation", "definition": "An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. [HPO:probinson, PMID:22528889]"} {"concept_id": "C4025103", "aliases": ["Bone fusion involving the shinbone"], "types": ["T190"], "canonical_name": "Synostosis involving the tibia"} {"concept_id": "C4025104", "aliases": ["Bone fusion involving the calf bones"], "types": ["T190"], "canonical_name": "Synostosis involving the fibula"} {"concept_id": "C4025105", "aliases": ["Abnormality of the cortex of hand bones", "Abnormality of hand cortical bone"], "types": ["T190"], "canonical_name": "Abnormal hand cortical bone morphology", "definition": "An anomaly of the outer shell (cortex) of a hand bone. []"} {"concept_id": "C4025106", "aliases": ["Abnormalities of shaft of long bone of the hand", "Abnormalities of the diaphyses of the hand"], "types": ["T190"], "canonical_name": "Abnormal hand diaphysis morphology"} {"concept_id": "C4025107", "aliases": ["Abnormality of the epiphyses of the fingers", "Abnormality of the end part of the hand bone", "Abnormality of the epiphyses of the phalanges of the hand", "Abnormality of the end part of the hand bones", "Abnormality of the epiphyses of the hand"], "types": ["T190"], "canonical_name": "Abnormal hand epiphysis morphology", "definition": "Any abnormality of the epiphyses of the phalanges or metacarpal bones. [HPO:curators]"} {"concept_id": "C4025108", "aliases": ["Abnormalities of the metaphyses of the hand", "Abnormality of the wide portion of the hand bone"], "types": ["T190"], "canonical_name": "Abnormal hand metaphysis morphology"} {"concept_id": "C4025109", "aliases": ["Abnormal shape of hand"], "types": ["T190"], "canonical_name": "Abnormal hand morphology", "definition": "Any structural anomaly of the hand. [HPO:probinson]"} {"concept_id": "C4025110", "aliases": ["Abnormality of end part of long bone of hand"], "types": ["T190"], "canonical_name": "Abnormality of metacarpal epiphyses"} {"concept_id": "C4025111", "aliases": [], "types": ["T190"], "canonical_name": "Radial deviation of thumb terminal phalanx"} {"concept_id": "C4025112", "aliases": ["Double 1st long bones of hand"], "types": ["T190"], "canonical_name": "Double first metacarpals", "definition": "Duplication of the metacarpal I bones. [HPO:curators]"} {"concept_id": "C4025113", "aliases": ["Fusion of innermost shinbone and calf bone"], "types": ["T190"], "canonical_name": "Proximal tibial and fibular fusion"} {"concept_id": "C4025114", "aliases": [], "types": ["T190"], "canonical_name": "Aphalangy of the hands", "definition": "Absence of a digit or of one or more phalanges of a finger. [HPO:probinson]"} {"concept_id": "C4025115", "aliases": [], "types": ["T033"], "canonical_name": "Absent ossification of cervical vertebral bodies", "definition": "A lack of bone mineralization of one or more body of cervical vertebra. [HPO:probinson]"} {"concept_id": "C4025116", "aliases": [], "types": ["T190"], "canonical_name": "Dermatoglyphic variants"} {"concept_id": "C4025117", "aliases": ["Fused long bone of hand with innermost finger bone"], "types": ["T190"], "canonical_name": "Metacarpophalangeal synostosis", "definition": "Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. [HPO:probinson]"} {"concept_id": "C4025118", "aliases": [], "types": ["T033"], "canonical_name": "Enlarged sagittal diameter of the cervical canal"} {"concept_id": "C4025119", "aliases": [], "types": ["T037"], "canonical_name": "Multiple small vertebral fractures"} {"concept_id": "C4025120", "aliases": [], "types": ["T190"], "canonical_name": "Increased dermatoglyphic whorls"} {"concept_id": "C4025121", "aliases": [], "types": ["T190"], "canonical_name": "Metaphyseal enchondromatosis", "definition": "An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. [HPO:probinson, PMID:20661403]"} {"concept_id": "C4025122", "aliases": [], "types": ["T190"], "canonical_name": "Opposable triphalangeal thumb", "definition": "A form of triphalangeal thumb that can be placed opposite the fingers of the same hand. [HPO:probinson]"} {"concept_id": "C4025123", "aliases": [], "types": ["T019"], "canonical_name": "Congenital foot contraction deformities"} {"concept_id": "C4025124", "aliases": [], "types": ["T033"], "canonical_name": "Limited elbow extension and supination"} {"concept_id": "C4025125", "aliases": [], "types": ["T033"], "canonical_name": "Diffuse cerebral calcification", "definition": "Generalized deposition of calcium salts within the brain. [HPO:probinson]"} {"concept_id": "C4025126", "aliases": ["Rounded middle bone of finger"], "types": ["T190"], "canonical_name": "Rounded middle phalanx of finger", "definition": "An abnormally round shape of the middle phalanx of the finger. [HPO:probinson]"} {"concept_id": "C4025128", "aliases": [], "types": ["T033"], "canonical_name": "Mixed sclerosis of humeral metaphyses"} {"concept_id": "C4025129", "aliases": [], "types": ["T190"], "canonical_name": "Superior rib anomalies"} {"concept_id": "C4025130", "aliases": [], "types": ["T190"], "canonical_name": "Coalescence of tarsal bones"} {"concept_id": "C4025132", "aliases": ["Shortening of all outermost bone of the toes"], "types": ["T190"], "canonical_name": "Shortening of all distal phalanges of the toes", "definition": "Abnormally short distal phalanx of toe of all toes. [HPO:probinson]"} {"concept_id": "C4025133", "aliases": [], "types": ["T190"], "canonical_name": "Cortical thickening of long bone diaphyses", "definition": "Abnormal thickening of the cortex of the diaphyseal region of long bones. [HPO:curators]"} {"concept_id": "C4025134", "aliases": ["Decreased length of condylar process of mandible", "Decreased height of condylar process of mandible", "Bilateral hypoplasia of mandibular condylar head", "Bilateral hypoplasia of condylar process of mandible", "Bilateral hypoplasia of mandibular condylar neck", "Short condylar process of mandible"], "types": ["T190"], "canonical_name": "Short mandibular condyles"} {"concept_id": "C4025135", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal cervical myelogram"} {"concept_id": "C4025136", "aliases": [], "types": ["T190"], "canonical_name": "Lumbar platyspondyly", "definition": "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine. [HPO:probinson]"} {"concept_id": "C4025137", "aliases": [], "types": ["T190"], "canonical_name": "Carpal bone malsegmentation"} {"concept_id": "C4025138", "aliases": [], "types": ["T033"], "canonical_name": "Multiple skeletal anomalies"} {"concept_id": "C4025139", "aliases": [], "types": ["T019"], "canonical_name": "Fifth finger distal phalanx clinodactyly", "definition": "Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger). [HPO:probinson]"} {"concept_id": "C4025140", "aliases": [], "types": ["T190"], "canonical_name": "1-2 toe complete cutaneous syndactyly"} {"concept_id": "C4025141", "aliases": ["Small and flat posterior fossa of skull", "Small and flat posterior skull bones"], "types": ["T033"], "canonical_name": "Small flat posterior fossa", "definition": "An abnormally small and flat configuration of the posterior cranial fossa. [HPO:curators]"} {"concept_id": "C4025142", "aliases": [], "types": ["T033"], "canonical_name": "Flattened moderately deformed vertebrae"} {"concept_id": "C4025143", "aliases": [], "types": ["T190"], "canonical_name": "Easily subluxated first metacarpophalangeal joints"} {"concept_id": "C4025144", "aliases": [], "types": ["T019"], "canonical_name": "Congenital foot contractures"} {"concept_id": "C4025145", "aliases": [], "types": ["T190"], "canonical_name": "Cortical irregularity", "definition": "An abnormal irregularity of cortical bone. [HPO:curators]"} {"concept_id": "C4025146", "aliases": ["Short thumbs with bulbous tips"], "types": ["T033"], "canonical_name": "Thumbs hypoplastic with bulbous tips"} {"concept_id": "C4025147", "aliases": [], "types": ["T033"], "canonical_name": "Shoe-shaped sella turcica"} {"concept_id": "C4025148", "aliases": ["Double jointed thumb"], "types": ["T033"], "canonical_name": "Hyperextensible thumb", "definition": "The ability of the thumb joints to move beyond their normal range of motion. [HPO:curators]"} {"concept_id": "C4025149", "aliases": [], "types": ["T190"], "canonical_name": "Shortening of all metacarpals", "definition": "Abnormal reduction in length of all metacarpal bones. [HPO:probinson]"} {"concept_id": "C4025150", "aliases": ["Flattened end part of knee bone"], "types": ["T190"], "canonical_name": "Flattened knee epiphyses"} {"concept_id": "C4025151", "aliases": [], "types": ["T190"], "canonical_name": "Increased bone density with cystic changes"} {"concept_id": "C4025152", "aliases": [], "types": ["T190"], "canonical_name": "Dermatoglyphic ridges abnormal"} {"concept_id": "C4025153", "aliases": [], "types": ["T190"], "canonical_name": "Dysplastic distal thumb phalanges with a central hole"} {"concept_id": "C4025154", "aliases": ["Deformed head of long bone in upper arm"], "types": ["T190"], "canonical_name": "Deformed humeral heads"} {"concept_id": "C4025155", "aliases": ["Fusion of the subtalar joint"], "types": ["T033"], "canonical_name": "Talocalcaneal synostosis"} {"concept_id": "C4025156", "aliases": [], "types": ["T190"], "canonical_name": "Tongue-like lumbar vertebral deformities", "definition": "A tongue-like protusion from the anterior aspect of lumbar vertebral bodies. [PMID:25349664]"} {"concept_id": "C4025157", "aliases": [], "types": ["T033"], "canonical_name": "Anterior atlanto-occipital dislocation"} {"concept_id": "C4025158", "aliases": [], "types": ["T019"], "canonical_name": "Rudimentary postaxial polydactyly of hands"} {"concept_id": "C4025159", "aliases": ["Bilateral intracranial calcifications"], "types": ["T033"], "canonical_name": "Bilateral intracerebral calcifications", "definition": "Deposition of calcium salts on both sides of the brain. [HPO:probinson]"} {"concept_id": "C4025160", "aliases": [], "types": ["T033"], "canonical_name": "Massively thickened long bone cortices", "definition": "Extreme thickening of the cortex of long bones. [HPO:curators]"} {"concept_id": "C4025161", "aliases": [], "types": ["T190"], "canonical_name": "Positional foot deformity", "definition": "A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. [HPO:probinson]"} {"concept_id": "C4025162", "aliases": [], "types": ["T191"], "canonical_name": "Multiple digital exostoses", "definition": "Multiple exostoses originating in the fingers and toes. [HPO:probinson]"} {"concept_id": "C4025163", "aliases": ["Moderate generalised osteoporosis"], "types": ["T047"], "canonical_name": "Moderate generalized osteoporosis", "definition": "Moderate osteoporosis. [HPO:curators]"} {"concept_id": "C4025164", "aliases": [], "types": ["T046"], "canonical_name": "Cortical sclerosis", "definition": "Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. [HPO:probinson]"} {"concept_id": "C4025165", "aliases": ["Cutaneous syndactyly between fingers 2 and 5"], "types": ["T190"], "canonical_name": "2-5 finger cutaneous syndactyly", "definition": "A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. [HPO:probinson]"} {"concept_id": "C4025166", "aliases": [], "types": ["T033"], "canonical_name": "Bilateral ulnar hypoplasia", "definition": "Underdevelopment of the ulna on both sides. [HPO:probinson]"} {"concept_id": "C4025167", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal vertebral segmentation and fusion"} {"concept_id": "C4025168", "aliases": [], "types": ["T033"], "canonical_name": "Decreased anterioposterior diameter of lumbar vertebral bodies"} {"concept_id": "C4025169", "aliases": [], "types": ["T033"], "canonical_name": "Posterior fusion of lumbosacral vertebrae", "definition": "Bony fusion of the posterior part of the L5 vertebral body with the sacrum. [PMID:5443339]"} {"concept_id": "C4025170", "aliases": [], "types": ["T047"], "canonical_name": "Osteoporosis of vertebrae", "definition": "Osteoporosis affecting predominantly the vertebrae. [HPO:curators]"} {"concept_id": "C4025171", "aliases": ["Trapezoidal vertebral bodies", "Trapezoidal shaped vertebral bodies"], "types": ["T190"], "canonical_name": "Trapezoidal vertebral body", "definition": "An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side. [PMID:33247084]"} {"concept_id": "C4025172", "aliases": ["Increased mobility of hinge joints"], "types": ["T190"], "canonical_name": "Hypermobility of interphalangeal joints", "definition": "The ability of the interphalangeal joints to move beyond their normal range of motion. [HPO:curators]"} {"concept_id": "C4025173", "aliases": [], "types": ["T019"], "canonical_name": "Arthrogryposis-like hand anomaly"} {"concept_id": "C4025174", "aliases": [], "types": ["T033"], "canonical_name": "Large cafe-au-lait macules with irregular margins", "definition": "Large hypermelanotic macules with jagged borders. [HPO:probinson]"} {"concept_id": "C4025175", "aliases": [], "types": ["T019"], "canonical_name": "Congenital alopecia totalis", "definition": "Loss of all scalp hair with congenital onset. [HPO:probinson]"} {"concept_id": "C4025176", "aliases": [], "types": ["T047"], "canonical_name": "Non-acidotic proximal tubulopathy", "definition": "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. [HPO:probinson]"} {"concept_id": "C4025177", "aliases": ["Imbalanced Hb synthesis", "Imbalanced haemoglobin synthesis"], "types": ["T033"], "canonical_name": "Imbalanced hemoglobin synthesis", "definition": "Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia. [HPO:probinson]"} {"concept_id": "C4025178", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the kinin-kallikrein system"} {"concept_id": "C4025179", "aliases": ["Malformation of the malar arch", "Anomaly of the zygomatic arch", "Deformity of the malar arch", "Abnormality of the malar arch", "Deformity of the zygomatic arch", "Abnormality of the zygomatic arch", "Anomaly of the malar arch", "Malformation of the zygomatic arch"], "types": ["T190"], "canonical_name": "Abnormal zygomatic arch morphology", "definition": "An abnormality of the zygomatic arch, also known as the cheek bone. [HPO:probinson]"} {"concept_id": "C4025180", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the metopic suture", "definition": "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a metopic suture\".\" [HPO:curators]"} {"concept_id": "C4025181", "aliases": [], "types": ["T191"], "canonical_name": "T cell chronic lymphocytic lymphoma/leukemia", "definition": "A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent. [ISBN:9780721600406]"} {"concept_id": "C4025182", "aliases": [], "types": ["T047"], "canonical_name": "Exercise-induced hemolysis", "definition": "A form of hemolytic anemia that can be triggered by exertion. [HPO:probinson]"} {"concept_id": "C4025183", "aliases": ["Macrocytic dyserythropoietic anaemia"], "types": ["T047"], "canonical_name": "Macrocytic dyserythropoietic anemia"} {"concept_id": "C4025184", "aliases": [], "types": ["T047"], "canonical_name": "Spontaneous hemolytic crises"} {"concept_id": "C4025185", "aliases": [], "types": ["T047"], "canonical_name": "Macrocytic hemolytic disease"} {"concept_id": "C4025186", "aliases": [], "types": ["T191"], "canonical_name": "T-cell lymphoma/leukemia", "definition": "A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas. [HPO:probinson]"} {"concept_id": "C4025187", "aliases": [], "types": ["T033"], "canonical_name": "Increased megakaryocyte count", "definition": "Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. [HPO:probinson]"} {"concept_id": "C4025188", "aliases": [], "types": ["T033"], "canonical_name": "Impaired neutrophil killing of staphylococci", "definition": "A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph. [https://en.wikipedia.org/wiki/Staphylococcus_aureus]"} {"concept_id": "C4025189", "aliases": [], "types": ["T190"], "canonical_name": "Metopic suture patent to nasal root", "definition": "The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root. [HPO:probinson, PMID:11711818]"} {"concept_id": "C4025190", "aliases": ["Abnormality of the epiglottis"], "types": ["T190"], "canonical_name": "Abnormal epiglottis morphology", "definition": "An abnormality of the epiglottis. [HPO:probinson]"} {"concept_id": "C4025191", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the alternative complement pathway", "definition": "A deviation in any aspect of the alternative complement pathway. []"} {"concept_id": "C4025192", "aliases": [], "types": ["T019"], "canonical_name": "Orbital craniosynostosis"} {"concept_id": "C4025193", "aliases": [], "types": ["T190"], "canonical_name": "Craniofacial osteosclerosis", "definition": "Abnormally increased density of craniofacial bone tissue. [HPO:probinson]"} {"concept_id": "C4025194", "aliases": ["Agenesis of ethmoid sinuses", "Failure of development of ethmoid sinuses", "Missing ethmoid sinuses"], "types": ["T033"], "canonical_name": "Absent ethmoidal sinuses", "definition": "Lack (aplasia) of the ethmoidal sinus. [HPO:probinson]"} {"concept_id": "C4025195", "aliases": [], "types": ["T033"], "canonical_name": "Sclerotic cranial sutures", "definition": "An increased density in the cranial sutures following obliteration. [HPO:curators]"} {"concept_id": "C4025196", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent systemic pyogenic infections", "definition": "Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections. [ORCID:0000-0001-7941-2961]"} {"concept_id": "C4025197", "aliases": ["Absence of CD8+ T cells"], "types": ["T033"], "canonical_name": "Absence of CD8-positive T cells", "definition": "Lack of detectible CD8-positive T cells []"} {"concept_id": "C4025198", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent gram-negative bacterial infections", "definition": "Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents. [HPO:probinson]"} {"concept_id": "C4025199", "aliases": [], "types": ["T047"], "canonical_name": "Chronic intestinal candidiasis", "definition": "Persistent overgrowth of Candida albicans in the gastrointestinal tract. [HPO:probinson]"} {"concept_id": "C4025201", "aliases": [], "types": ["T033"], "canonical_name": "Reduction of neutrophil motility", "definition": "An abnormal reduction of the cell motility of neutrophils. [HPO:probinson]"} {"concept_id": "C4025202", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent protozoan infections", "definition": "Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection. [HPO:probinson]"} {"concept_id": "C4025204", "aliases": ["Recurrent H. influenzae infections"], "types": ["T033"], "canonical_name": "Recurrent Haemophilus influenzae infections", "definition": "Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae. [HPO:probinson]"} {"concept_id": "C4025207", "aliases": ["Susceptibility to herpesvirus"], "types": ["T033"], "canonical_name": "Recurrent herpes", "definition": "Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. []"} {"concept_id": "C4025208", "aliases": ["Severe T-cell immunodeficiency"], "types": ["T047"], "canonical_name": "Severe T-cell immunodeficiency", "definition": "A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. [PMID:18755723]"} {"concept_id": "C4025209", "aliases": ["Abnormal facial expression"], "types": ["T033"], "canonical_name": "Abnormal facial expression"} {"concept_id": "C4025210", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the vena cava"} {"concept_id": "C4025211", "aliases": ["Abnormality of the carotid arteries"], "types": ["T190"], "canonical_name": "Abnormal carotid artery morphology", "definition": "Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches. []"} {"concept_id": "C4025212", "aliases": [], "types": ["T047"], "canonical_name": "Autonomic bladder dysfunction", "definition": "Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system. [HPO:probinson]"} {"concept_id": "C4025213", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of complement system", "definition": "An abnormality of the complement system. [HPO:probinson, PMID:19388161]"} {"concept_id": "C4025214", "aliases": ["Somnolent facial expression", "Sleepy facial expression"], "types": ["T033"], "canonical_name": "Sleepy facial expression"} {"concept_id": "C4025215", "aliases": ["Disturbance of facial expression"], "types": ["T033"], "canonical_name": "Disturbance of facial expression", "definition": "An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. [DDD:cwright]"} {"concept_id": "C4025216", "aliases": ["Prominent septum of nose", "Prominent nasal septum"], "types": ["T033"], "canonical_name": "Prominent nasal septum"} {"concept_id": "C4025217", "aliases": [], "types": ["T047"], "canonical_name": "Pulmonary aterial intimal fibrosis", "definition": "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation. [HPO:probinson]"} {"concept_id": "C4025218", "aliases": [], "types": ["T047"], "definition": "A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta. [HPO:probinson, PMID:16088500]", "canonical_name": "Large vessel vasculitis"} {"concept_id": "C4025219", "aliases": [], "types": ["T047"], "canonical_name": "Nodular inflammatory vasculitis"} {"concept_id": "C4025222", "aliases": [], "types": ["T047"], "canonical_name": "Inflammatory arteriopathy"} {"concept_id": "C4025223", "aliases": ["Deformity of the nasolabial region", "Malformation of the nasolabial region", "Anomaly of the nasolabial region"], "types": ["T190"], "canonical_name": "Abnormality of the nasolabial region"} {"concept_id": "C4025224", "aliases": ["Abnormality of the jejunum"], "types": ["T190"], "canonical_name": "Abnormal jejunum morphology", "definition": "An abnormality of the jejunum, i.e., of the middle section of the small intestine. [HPO:probinson]"} {"concept_id": "C4025225", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the synovia"} {"concept_id": "C4025226", "aliases": ["Underdeveloped/absent pec muscle", "Small/absent pec muscle"], "types": ["T190"], "canonical_name": "Pectoral muscle hypoplasia/aplasia"} {"concept_id": "C4025227", "aliases": [], "types": ["T047"], "canonical_name": "High intestinal obstruction"} {"concept_id": "C4025228", "aliases": [], "types": ["T033"], "canonical_name": "Partial abdominal muscle agenesis", "definition": "Failure to form of portions of the abdominal musculature. [HPO:probinson]"} {"concept_id": "C4025229", "aliases": [], "types": ["T047"], "canonical_name": "Discrete intestinal polyps"} {"concept_id": "C4025230", "aliases": [], "types": ["T047"], "canonical_name": "Degenerative liver disease", "definition": "The presence of degenerative changes of the liver. [HPO:probinson]"} {"concept_id": "C4025231", "aliases": [], "types": ["T047"], "canonical_name": "Chronic calcifying pancreatitis", "definition": "A form of chronic pancreatitis that is characterized by calcification. [HPO:probinson]"} {"concept_id": "C4025232", "aliases": [], "types": ["T190"], "canonical_name": "Jejunoileal ulceration"} {"concept_id": "C4025233", "aliases": [], "types": ["T047"], "canonical_name": "Multiple intestinal neurofibromatosis"} {"concept_id": "C4025234", "aliases": [], "types": ["T190"], "canonical_name": "Duplication of internal organs"} {"concept_id": "C4025235", "aliases": [], "types": ["T033"], "canonical_name": "Frequent Giardia lamblia infestation", "definition": "Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection. [HPO:probinson]"} {"concept_id": "C4025236", "aliases": [], "types": ["T190"], "canonical_name": "Anomalous splenoportal venous system"} {"concept_id": "C4025237", "aliases": ["Stiff hinge joints"], "types": ["T190"], "canonical_name": "Stiff interphalangeal joints", "definition": "Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity. [HPO:curators]"} {"concept_id": "C4025238", "aliases": ["Generalised morning stiffness"], "types": ["T033"], "canonical_name": "Generalized morning stiffness", "definition": "A sensation of stiffness in the joints that occurs following waking up in the morning. [HPO:curators]"} {"concept_id": "C4025239", "aliases": [], "types": ["T047"], "canonical_name": "Polyarticular arthropathy"} {"concept_id": "C4025240", "aliases": ["Flattened head of long bone of foot"], "types": ["T190"], "canonical_name": "Flattened metatarsal heads", "definition": "Abnormally flat shape of the heads of the metatarsal bones. [HPO:probinson]"} {"concept_id": "C4025241", "aliases": [], "types": ["T033"], "canonical_name": "Restricted large joint movement"} {"concept_id": "C4025242", "aliases": [], "types": ["T033"], "canonical_name": "Proximal finger joint hyperextensibility"} {"concept_id": "C4025243", "aliases": [], "types": ["T033"], "canonical_name": "Progressive joint destruction"} {"concept_id": "C4025244", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal atrioventricular conduction", "definition": "An impairment of the electrical continuity between the atria and ventricles. [PMID:15372490]"} {"concept_id": "C4025246", "aliases": ["Abnormality of heart atrium", "Abnormality of cardiac atrium morphology"], "types": ["T190"], "canonical_name": "Abnormal cardiac atrium morphology", "definition": "Any structural abnormality of a cardiac atrium. [HPO:probinson]"} {"concept_id": "C4025248", "aliases": [], "types": ["T033"], "canonical_name": "Dilatation of the abdominal aorta"} {"concept_id": "C4025249", "aliases": ["Abnormality of the intervertebral disk", "Abnormality of the intervertebral disc"], "types": ["T190"], "canonical_name": "Abnormal intervertebral disk morphology", "definition": "Any structural abnormality of the intervertebral disk. [HPO:probinson]"} {"concept_id": "C4025250", "aliases": ["Abnormality of the sacrum"], "types": ["T190"], "canonical_name": "Abnormal sacrum morphology", "definition": "An abnormality of the sacral bone. [HPO:probinson]"} {"concept_id": "C4025251", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the vertebral endplates", "definition": "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. [HPO:curators]"} {"concept_id": "C4025252", "aliases": ["Abnormal nose morphology", "Abnormal of nasal shape", "Abnormal of morphology of nose", "Abnormal of shape of nose"], "types": ["T190"], "canonical_name": "Abnormal nasal morphology"} {"concept_id": "C4025253", "aliases": ["Streak increase in bone density in wide portion of wide bone"], "types": ["T033"], "canonical_name": "Streaky metaphyseal sclerosis", "definition": "The presence of streaks (bands) of abnormally increased density of metaphyseal bone. [HPO:probinson]"} {"concept_id": "C4025254", "aliases": [], "types": ["T190"], "canonical_name": "Absent styloid process of ulna"} {"concept_id": "C4025255", "aliases": ["Cone-shaped end part of long bone fused within their wide portion of wide bone"], "types": ["T190"], "canonical_name": "Cone-shaped epiphyses fused within their metaphyses"} {"concept_id": "C4025256", "aliases": ["Joint pain/Joint inflammation"], "types": ["T047"], "canonical_name": "Arthralgia/arthritis"} {"concept_id": "C4025257", "aliases": ["Short toe bones"], "types": ["T190"], "canonical_name": "Shortening of all phalanges of the toes", "definition": "Developmental hypoplasia (shortening) of all phalanges of the foot. [HPO:probinson]"} {"concept_id": "C4025258", "aliases": [], "types": ["T047"], "canonical_name": "Polyarticular chondrocalcinosis"} {"concept_id": "C4025259", "aliases": ["Dumbbell-shaped long bone in upper arm"], "types": ["T190"], "canonical_name": "Dumbbell-shaped humerus", "definition": "The humerus is shortened and displays flaring (widening) of the metaphyses. [HPO:probinson]"} {"concept_id": "C4025260", "aliases": ["Large joint dislocations"], "types": ["T037"], "canonical_name": "Large joint dislocations"} {"concept_id": "C4025261", "aliases": ["Absent/underdeveloped end part of innermost thighbone", "Absent/small end part of innermost thighbone"], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the capital femoral epiphysis", "definition": "Absence or underdevelopment of the proximal epiphysis of the femur. [HPO:probinson]"} {"concept_id": "C4025262", "aliases": [], "types": ["T033"], "canonical_name": "Prominent styloid process of ulna"} {"concept_id": "C4025263", "aliases": [], "types": ["T190"], "canonical_name": "Coarctation of abdominal aorta", "definition": "Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta. [HPO:probinson]"} {"concept_id": "C4025264", "aliases": ["Recurrent hemorrhagic stroke", "Recurrent cerebral haemorrhage"], "types": ["T047"], "canonical_name": "Recurrent cerebral hemorrhage", "definition": "Recurrent bleeding into the parenchyma of the brain. [DDD:dbrown]"} {"concept_id": "C4025265", "aliases": [], "types": ["T046"], "canonical_name": "Medial calcification of large arteries", "definition": "Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries. [HPO:probinson]"} {"concept_id": "C4025266", "aliases": [], "types": ["T190"], "canonical_name": "Dilatation of the descending thoracic aorta"} {"concept_id": "C4025267", "aliases": [], "types": ["T047"], "canonical_name": "Extracranial internal carotid artery dissection", "definition": "A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall. [HPO:probinson]"} {"concept_id": "C4025268", "aliases": [], "types": ["T047"], "canonical_name": "Extrahepatic portal hypertension", "definition": "Increased pressure in the pre-hepatic portal vein. [HPO:probinson]"} {"concept_id": "C4025269", "aliases": ["Generalised arterial calcification"], "types": ["T046"], "canonical_name": "Generalized arterial calcification", "definition": "Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. [HPO:probinson]"} {"concept_id": "C4025270", "aliases": [], "types": ["T047"], "canonical_name": "Arteriosclerosis of small cerebral arteries", "definition": "Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain. [HPO:probinson]"} {"concept_id": "C4025271", "aliases": ["Abnormality of the lung blood vessels"], "types": ["T190"], "canonical_name": "Abnormality of the pulmonary vasculature"} {"concept_id": "C4025272", "aliases": ["Peripheral arterial stenosis"], "types": ["T047"], "definition": "Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication. []", "canonical_name": "Peripheral artery disease"} {"concept_id": "C4025273", "aliases": [], "types": ["T033"], "canonical_name": "Atypical hyperphenylalaninemia"} {"concept_id": "C4025274", "aliases": ["Abnormal Mg concentration", "Abnormality of magnesium homeostasis"], "types": ["T033"], "canonical_name": "Abnormal magnesium concentration", "definition": "An abnormality of magnesium ion homeostasis. [HPO:probinson]"} {"concept_id": "C4025275", "aliases": ["Generalised distal tubular acidosis"], "types": ["T047"], "canonical_name": "Generalized distal tubular acidosis"} {"concept_id": "C4025276", "aliases": [], "types": ["T047"], "canonical_name": "Congenital lactic acidosis", "definition": "A form of lactic acidemia with congenital onset. [HPO:probinson]"} {"concept_id": "C4025277", "aliases": ["Exercise-induced lactic acidosis"], "types": ["T047"], "canonical_name": "Exercise-induced lactic acidemia", "definition": "A form of lactic acidemia that occurs following exercise or exertion. [HPO:probinson, PMID:15308499]"} {"concept_id": "C4025278", "aliases": [], "types": ["T047"], "canonical_name": "Stress/infection-induced lactic acidosis", "definition": "A form of lactic acidemia that occurs in relation to stress or infection. [HPO:probinson]"} {"concept_id": "C4025279", "aliases": ["Respiratory distress requiring mechanical ventilation", "Respiratory distress necessitating mechanical ventilation", "Respiratory distress requiring endotracheal intubation"], "types": ["T033"], "canonical_name": "Respiratory failure requiring assisted ventilation", "definition": "A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. [ORCID:0000-0002-7440-8864, PMID:18710593, PMID:28620428]"} {"concept_id": "C4025280", "aliases": [], "types": ["T033"], "canonical_name": "Respiratory infections in early life", "definition": "Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections. []"} {"concept_id": "C4025281", "aliases": [], "types": ["T033"], "canonical_name": "Neonatal inspiratory stridor"} {"concept_id": "C4025282", "aliases": [], "types": ["T033"], "canonical_name": "Impaired ADP-induced platelet aggregation", "definition": "Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. [HPO:probinson, PMID:11413156]"} {"concept_id": "C4025283", "aliases": ["Compensated hemolytic anaemia"], "types": ["T047"], "canonical_name": "Compensated hemolytic anemia"} {"concept_id": "C4025284", "aliases": [], "types": ["T033"], "canonical_name": "Reduced protein S activity", "definition": "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C. [HPO:probinson]"} {"concept_id": "C4025285", "aliases": [], "types": ["T047"], "canonical_name": "Microspherocytosis", "definition": "The presence of erythrocytes that are sphere-shaped and reduced in size. [HPO:probinson]"} {"concept_id": "C4025286", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent thromboembolism", "definition": "Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream. [HPO:probinson]"} {"concept_id": "C4025287", "aliases": ["Folate-unresponsive megaloblastic anaemia"], "types": ["T047"], "canonical_name": "Folate-unresponsive megaloblastic anemia", "definition": "A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia. [HPO:probinson]"} {"concept_id": "C4025288", "aliases": ["Hypermature neutrophils", "Hypersegmentation of neutrophil nuclei in peripheral blood"], "types": ["T033"], "canonical_name": "Hypersegmentation of neutrophil nuclei", "definition": "An excessive division of the lobes of the nucleus of a neutrophil. [HPO:probinson]"} {"concept_id": "C4025289", "aliases": ["Drug-sensitive hemolytic anaemia"], "types": ["T047"], "canonical_name": "Drug-sensitive hemolytic anemia", "definition": "A form of hemolytic anemia that is triggered by ingestion of certain drugs. [HPO:probinson]"} {"concept_id": "C4025290", "aliases": [], "types": ["T047"], "canonical_name": "Jejunoileal diverticula"} {"concept_id": "C4025291", "aliases": ["Underdeveloped small intestine"], "types": ["T190"], "canonical_name": "Hypoplasia of the small intestine", "definition": "Underdevelopment of the small intestine. [HPO:probinson]"} {"concept_id": "C4025292", "aliases": [], "types": ["T047"], "canonical_name": "Intestinal lymphedema", "definition": "Fluid retention and edema in the intestine caused by a compromised lymphatic system. [HPO:probinson]"} {"concept_id": "C4025293", "aliases": [], "types": ["T047"], "canonical_name": "Jejunal diverticula"} {"concept_id": "C4025295", "aliases": ["Hypertrichosis cubiti", "Elbow hypertrichosis", "Pilosity of elbow", "Hairy elbow syndrome"], "types": ["T047"], "definition": "Excessive, increased hair growth located in the elbow region. [HPO:probinson]", "canonical_name": "Hairy elbow"} {"concept_id": "C4025296", "aliases": ["Brittle scalp hair"], "types": ["T033"], "canonical_name": "Brittle scalp hair", "definition": "Fragile, easily breakable scalp hair. [DDD:cmoss]"} {"concept_id": "C4025298", "aliases": ["Exercise-induced polymorphic ventricular tachycardia", "Catecholaminergic polymorphic ventricular tachycardia"], "types": ["T033"], "definition": "Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration. [PMID:15913575]", "canonical_name": "Effort-induced polymorphic ventricular tachycardia"} {"concept_id": "C4025299", "aliases": [], "types": ["T019"], "canonical_name": "Congenital atrioventricular dissociation", "definition": "A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset. [HPO:probinson]"} {"concept_id": "C4025300", "aliases": [], "types": ["T019"], "canonical_name": "Axial malrotation of the kidney", "definition": "An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. [HPO:probinson]"} {"concept_id": "C4025301", "aliases": [], "types": ["T190"], "canonical_name": "Cervical C5/C6 vertebrae fusion", "definition": "Fusion of the C5 and C6 cervical vertebrae. [HPO:probinson]"} {"concept_id": "C4025302", "aliases": [], "types": ["T190"], "canonical_name": "Anterior beaking of thoracic vertebrae", "definition": "Anterior tongue-like protrusions of thoracic vertebral bodies. [HPO:probinson]"} {"concept_id": "C4025303", "aliases": ["Hyperplastic vertebral pedicles"], "types": ["T190"], "canonical_name": "Enlarged vertebral pedicles", "definition": "Increased size of the vertebral pedicle. [HPO:probinson]"} {"concept_id": "C4025304", "aliases": [], "types": ["T019"], "canonical_name": "Spina bifida occulta at S1", "definition": "The closed form of spina bifida with incomplete closure of S1 with intact overlying skin. [HPO:probinson]"} {"concept_id": "C4025305", "aliases": [], "types": ["T033"], "canonical_name": "Patchy distortion of vertebrae"} {"concept_id": "C4025306", "aliases": [], "types": ["T190"], "canonical_name": "Anterior beaking of lower thoracic vertebrae", "definition": "Anterior tongue-like protrusions of the lower thoracic vertebral bodies. [HPO:probinson]"} {"concept_id": "C4025307", "aliases": [], "types": ["T190"], "canonical_name": "Hyperconvex vertebral body endplates"} {"concept_id": "C4025308", "aliases": [], "types": ["T019"], "canonical_name": "Spina bifida occulta at L5", "definition": "The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin. [HPO:probinson]"} {"concept_id": "C4025309", "aliases": ["Supernumerary vertebral ossification centres"], "types": ["T190"], "canonical_name": "Supernumerary vertebral ossification centers", "definition": "Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine. [HPO:probinson]"} {"concept_id": "C4025310", "aliases": [], "types": ["T190"], "canonical_name": "Dysplasia of second lumbar vertebra"} {"concept_id": "C4025311", "aliases": [], "types": ["T033"], "canonical_name": "Irregularity of vertebral bodies"} {"concept_id": "C4025313", "aliases": [], "types": ["T033"], "canonical_name": "Sacral hypertrichosis", "definition": "Excessive, increased hair growth located in the sacral region. [HPO:probinson]"} {"concept_id": "C4025314", "aliases": [], "types": ["T047"], "canonical_name": "Atrophic, patchy alopecia"} {"concept_id": "C4025315", "aliases": ["Large clumps of pigment irregularly distributed along hair shaft"], "types": ["T033"], "canonical_name": "Large clumps of pigment irregularly distributed along hair shaft"} {"concept_id": "C4025316", "aliases": ["Reduced hair growth in temporal region"], "types": ["T019"], "canonical_name": "Temporal hypotrichosis", "definition": "Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull). [HPO:curators]"} {"concept_id": "C4025317", "aliases": ["Bilateral choanal atresia", "Bilateral blockage of the rear opening of the nasal cavity"], "types": ["T019"], "definition": "Bilateral absence (atresia) of the posterior nasal aperture (choana). [HPO:probinson]", "canonical_name": "Bilateral obstruction of the rear opening of the nasal cavity"} {"concept_id": "C4025318", "aliases": ["Chronic nasal inflammation due to narrow nasal airway"], "types": ["T047"], "canonical_name": "Chronic rhinitis due to narrow nasal airway"} {"concept_id": "C4025319", "aliases": ["Skull stopped growing", "Head stopped growing", "Cranium stopped growing"], "types": ["T190"], "canonical_name": "Cessation of head growth", "definition": "Stagnation of head growth seen as flattening of the head circumference curve. [HPO:probinson]"} {"concept_id": "C4025320", "aliases": ["Malformation of craniofacial shape", "Uneven craniofacial structures", "Abnormality of craniofacial shape"], "types": ["T190"], "canonical_name": "Craniofacial asymmetry", "definition": "Asymmetry of the bones of the skull and the face. [HPO:curators]"} {"concept_id": "C4025321", "aliases": ["Hyperostosis of lower jaw", "Hyperostosis of mandibular bone", "Increased ossification of mandibular bone"], "types": ["T190"], "canonical_name": "Mandibular hyperostosis", "definition": "Hyperostosis (bony overgrowth) of the mandible. [HPO:probinson]"} {"concept_id": "C4025322", "aliases": [], "types": ["T033"], "canonical_name": "Prolonged brainstem auditory evoked potentials"} {"concept_id": "C4025323", "aliases": ["Postauricular fibroepithelial polyp", "Postauricular acrochordon", "Skin tag behind the ear"], "types": ["T033"], "canonical_name": "Postauricular skin tag", "definition": "A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). [HPO:probinson]"} {"concept_id": "C4025324", "aliases": ["Deformity of the cheeks", "Abnormality of the cheeks", "Abnormality of the cheek", "Malformation of the cheeks", "Anomaly of the cheeks"], "types": ["T019"], "canonical_name": "Abnormality of the cheek", "definition": "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. Buccal\" means relating to the cheek. The cheek is part of the midface\" []"} {"concept_id": "C4025325", "aliases": [], "types": ["T190"], "canonical_name": "Proximal esophageal atresia"} {"concept_id": "C4025326", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the pylorus", "definition": "An abnormality of the pylorus. [HPO:probinson]"} {"concept_id": "C4025327", "aliases": [], "types": ["T019"], "canonical_name": "Congenital pyloric atresia", "definition": "Congenital atresia of the pylorus. [HPO:probinson]"} {"concept_id": "C4025328", "aliases": ["Abnormality of alkaline phosphatase activity", "Abnormality of ALP level"], "types": ["T033"], "canonical_name": "Abnormality of alkaline phosphatase level", "definition": "An abnormality of alkaline phosphatase level. [HPO:probinson]"} {"concept_id": "C4025329", "aliases": ["Abnormality of the anus"], "types": ["T190"], "canonical_name": "Abnormality of the anus", "definition": "Abnormality of the anal canal. [HPO:probinson]"} {"concept_id": "C4025330", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of glycosaminoglycan metabolism", "definition": "Abnormality of glycosaminoglycan metabolism. [HPO:probinson]"} {"concept_id": "C4025331", "aliases": ["Decreased purine level", "Decreased purine levels"], "types": ["T033"], "canonical_name": "Decreased circulating purine concentration", "definition": "Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. []"} {"concept_id": "C4025332", "aliases": ["Increased purine levels", "Increased purine level"], "types": ["T033"], "canonical_name": "Increased circulating purine concentration", "definition": "Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. []"} {"concept_id": "C4025334", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of glycolysis", "definition": "An abnormality of glycolysis. [HPO:probinson]"} {"concept_id": "C4025335", "aliases": ["Abnormality of tryptophan metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating tryptophan concentration", "definition": "Any deviation from the normal concentration of tryptophan in the blood circulation. [HPO:probinson]"} {"concept_id": "C4025336", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating nitrogen compound concentration", "definition": "Any deviation from the normal concentration of a nitrogen compound in the blood circulation. [HPO:gcarletti]"} {"concept_id": "C4025338", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the enteric ganglia"} {"concept_id": "C4025339", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of circulating leptin level", "definition": "An abnormal concentration of leptin in the blood. [HPO:probinson]"} {"concept_id": "C4025340", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of superoxide metabolism"} {"concept_id": "C4025342", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of lysosomal metabolism"} {"concept_id": "C4025347", "aliases": [], "types": ["T033"], "canonical_name": "Weakness of muscles of respiration", "definition": "Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. [HPO:probinson]"} {"concept_id": "C4025349", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of cerebrosidase metabolism"} {"concept_id": "C4025350", "aliases": ["Abnormality of glycosphingolipid metabolism"], "types": ["T033"], "canonical_name": "Abnormal glycosphingolipid metabolism", "definition": "An abnormality of glycosphingolipid metabolism. [HPO:probinson]"} {"concept_id": "C4025351", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of galactoside metabolism", "definition": "Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose. [HPO:gcarletti]"} {"concept_id": "C4025352", "aliases": ["Abnormality of aromatic amino acid family metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating aromatic amino acid concentration", "definition": "Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. [HPO:probinson]"} {"concept_id": "C4025354", "aliases": ["Abnormality of the posterior segment of the eyeball", "Abnormal morphology of the posterior segment of the globe", "Abnormality of the posterior segment of the eye", "Abnormality of the posterior segment of the globe"], "types": ["T190"], "canonical_name": "Abnormal posterior eye segment morphology"} {"concept_id": "C4025355", "aliases": ["Abnormality of the anterior segment of the eye", "Abnormality of the anterior segment of the eyeball", "Abnormal anterior segment morphology", "Abnormality of the anterior segment of the globe"], "types": ["T190"], "canonical_name": "Abnormal anterior eye segment morphology", "definition": "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). [HPO:probinson]"} {"concept_id": "C4025356", "aliases": ["Abnormal vitreous humour morphology"], "types": ["T190"], "canonical_name": "Abnormal vitreous humor morphology", "definition": "Any structural anomaly of the vitreous body. [HPO:probinson]"} {"concept_id": "C4025357", "aliases": ["Abnormality of body weight"], "types": ["T033"], "canonical_name": "Abnormality of body weight", "definition": "An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. [HPO:probinson]"} {"concept_id": "C4025358", "aliases": ["Abnormality of reticulocytes"], "types": ["T033"], "canonical_name": "Abnormal reticulocyte morphology", "definition": "A reticulocyte abnormality. [HPO:probinson]"} {"concept_id": "C4025359", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal anatomic location of the heart", "definition": "Developmental defect characterized by an anomalous anatomic location of the heart. []"} {"concept_id": "C4025360", "aliases": ["Functional motor problems"], "types": ["T033"], "canonical_name": "Functional motor deficit"} {"concept_id": "C4025361", "aliases": ["Abnormality of GI vasculature", "Abnormality of GI blood vessels"], "types": ["T190"], "canonical_name": "Abnormality of gastrointestinal vasculature"} {"concept_id": "C4025362", "aliases": ["Abnormality of the mucous membrane layer of stomach", "Abnormality of the gastric mucosa"], "types": ["T190"], "canonical_name": "Abnormal gastric mucosa morphology", "definition": "An abnormality of the gastric mucous membrane. [HPO:probinson]"} {"concept_id": "C4025363", "aliases": ["Partial knuckle dislocation", "Subluxation of metacarpophalangeal joints"], "types": ["T037"], "canonical_name": "Subluxation of metacarpal phalangeal joints", "definition": "A partial dislocation affecting some or all of the metacarpophalangeal joints. [HPO:probinson]"} {"concept_id": "C4025364", "aliases": [], "types": ["T190"], "canonical_name": "Undermodelled hand bones"} {"concept_id": "C4025365", "aliases": [], "types": ["T190"], "canonical_name": "Stippled calcification of hand bones"} {"concept_id": "C4025366", "aliases": [], "types": ["T033"], "canonical_name": "Sclerosis of hand bones with transverse striations"} {"concept_id": "C4025367", "aliases": [], "types": ["T033"], "canonical_name": "Sclerotic foci in hand bones"} {"concept_id": "C4025368", "aliases": [], "types": ["T190"], "canonical_name": "Pseudoepiphyses of hand bones"} {"concept_id": "C4025369", "aliases": ["Pointed hand bones"], "types": ["T190"], "canonical_name": "Pointed hand bones"} {"concept_id": "C4025370", "aliases": ["Uneven increase in bone density in hand bones"], "types": ["T047"], "canonical_name": "Patchy sclerosis of hand bones"} {"concept_id": "C4025371", "aliases": [], "types": ["T190"], "canonical_name": "Overmodelled hand bones"} {"concept_id": "C4025372", "aliases": ["Notched hand bones"], "types": ["T190"], "canonical_name": "Notched hand bones"} {"concept_id": "C4025373", "aliases": [], "types": ["T033"], "canonical_name": "Irregular sclerosis of hand bones"} {"concept_id": "C4025374", "aliases": ["Irregular maturation of hand bones"], "types": ["T033"], "canonical_name": "Irregular ossification of hand bones"} {"concept_id": "C4025375", "aliases": [], "types": ["T190"], "canonical_name": "Exostoses of hand bones", "definition": "Abnormal formation of new bone on the surface of a bone of the hand. [HPO:curators]"} {"concept_id": "C4025376", "aliases": [], "types": ["T033"], "canonical_name": "Deficient ossification of hand bones"} {"concept_id": "C4025377", "aliases": ["Cupped metaphysis of hand bones", "Cupped wide portion of hand bones"], "types": ["T190"], "canonical_name": "Cupped metaphyses of hand bones"} {"concept_id": "C4025378", "aliases": [], "types": ["T190"], "canonical_name": "Cortical thinning of hand bones"} {"concept_id": "C4025379", "aliases": [], "types": ["T033"], "canonical_name": "Cortical thickening of hand bones"} {"concept_id": "C4025380", "aliases": ["Partial dislocation of small joints of hand"], "types": ["T037"], "canonical_name": "Subluxation of the small joints of the hand", "definition": "A partial dislocation of some or all of the small joints of the hand. [HPO:curators]"} {"concept_id": "C4025381", "aliases": [], "types": ["T047"], "canonical_name": "Osteoarthritis of the small joints of the hand"} {"concept_id": "C4025382", "aliases": ["Narrow small joints of the hand"], "types": ["T190"], "canonical_name": "Narrow small joints of the hand"} {"concept_id": "C4025383", "aliases": [], "types": ["T190"], "canonical_name": "Large capitate bone"} {"concept_id": "C4025384", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the capitate bone"} {"concept_id": "C4025385", "aliases": ["Large unciform bone"], "types": ["T190"], "canonical_name": "Large hamate bone"} {"concept_id": "C4025386", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the hamate bone"} {"concept_id": "C4025387", "aliases": [], "types": ["T190"], "canonical_name": "Small trapezoid bone", "definition": "Underdevelopment of the trapezoid. [HPO:probinson]"} {"concept_id": "C4025388", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the trapezoid bone"} {"concept_id": "C4025389", "aliases": [], "types": ["T033"], "canonical_name": "Small trapezium", "definition": "Underdevelopment of the trapezium. [HPO:probinson]"} {"concept_id": "C4025390", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the trapezium", "definition": "An anomaly of trapezium. [HPO:probinson]"} {"concept_id": "C4025391", "aliases": [], "types": ["T190"], "canonical_name": "Proximally placed lunate"} {"concept_id": "C4025392", "aliases": [], "types": ["T190"], "canonical_name": "Accessory lunate"} {"concept_id": "C4025393", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the lunate bone"} {"concept_id": "C4025394", "aliases": [], "types": ["T190"], "canonical_name": "Small scaphoid", "definition": "Underdevelopment of the scaphoid. [HPO:probinson]"} {"concept_id": "C4025395", "aliases": [], "types": ["T190"], "canonical_name": "Comma-shaped scaphoid"} {"concept_id": "C4025396", "aliases": [], "types": ["T190"], "canonical_name": "Accessory scaphoid"} {"concept_id": "C4025397", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the scaphoid"} {"concept_id": "C4025398", "aliases": [], "types": ["T033"], "canonical_name": "Sclerotic foci within carpal bones"} {"concept_id": "C4025399", "aliases": [], "types": ["T190"], "canonical_name": "Proximally placed carpal bones"} {"concept_id": "C4025400", "aliases": [], "types": ["T033"], "canonical_name": "Lytic defects of carpal bones"} {"concept_id": "C4025401", "aliases": ["Irregular wrist bones"], "types": ["T190"], "canonical_name": "Irregular carpal bones", "definition": "Carpal bones with irregular or fragmented margins. [HPO:probinson]"} {"concept_id": "C4025402", "aliases": ["Comma-shaped wrist bones"], "types": ["T033"], "canonical_name": "Comma-shaped carpal bones"} {"concept_id": "C4025403", "aliases": ["Bone-in-a-bone appearance of wrist bones"], "types": ["T033"], "canonical_name": "Bone-in-a-bone appearance of carpal bones", "definition": "The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones. [HPO:curators]"} {"concept_id": "C4025404", "aliases": ["Partially dislocated innermost hinge joint of little finger", "Partially dislocated innermost hinge joint of pinky finger", "Partially dislocated innermost hinge joint of pinkie finger"], "types": ["T190"], "canonical_name": "Subluxation of the proximal interphalangeal joint of the little finger", "definition": "A partial dislocation of the proximal interphalangeal joint of the little finger. [HPO:sdoelken]"} {"concept_id": "C4025405", "aliases": ["Abnormality of the end part of middle pinkie finger bone", "Abnormality of the end part of middle little finger bone", "Abnormality of the end part of middle pinky finger bone"], "types": ["T190"], "canonical_name": "Abnormality of the epiphysis of the middle phalanx of the 5th finger", "definition": "Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. [HPO:curators]"} {"concept_id": "C4025406", "aliases": ["Abnormality of the middle bone of pinky finger", "Abnormality of the middle bone of little finger", "Abnormality of the middle bone of pinkie finger"], "types": ["T190"], "canonical_name": "Abnormality of the middle phalanx of the 5th finger"} {"concept_id": "C4025407", "aliases": ["Curved little finger bone", "Curved pinky finger bone", "Curved pinkie finger bone"], "types": ["T190"], "canonical_name": "Curved phalanges of the 5th finger", "definition": "Curved phalanges of the 5th (little) finger. [HPO:curators]"} {"concept_id": "C4025408", "aliases": ["Abnormality of the phalanges of the 5th finger", "Abnormality of the pinkie finger bone", "Abnormality of the little finger bone", "Abnormality of the pinky finger bone"], "types": ["T190"], "canonical_name": "Abnormal 5th finger phalanx morphology", "definition": "Abnormality of the phalanges of the 5th (little) finger. [HPO:sdoelken]"} {"concept_id": "C4025409", "aliases": [], "types": ["T190"], "canonical_name": "Osteolytic defects of the phalanges of the 4th finger", "definition": "Osteolytic defects of the phalanges of the 4th (ring) finger. [HPO:curators]"} {"concept_id": "C4025410", "aliases": ["Abnormal middle finger bone of the middle finger"], "types": ["T190"], "canonical_name": "Abnormality of the middle phalanx of the 3rd finger"} {"concept_id": "C4025411", "aliases": ["Central nasal defect", "Midline defect of the nose", "Midline nasal defect", "Central defect of nose"], "types": ["T190"], "canonical_name": "Midline defect of the nose", "definition": "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. [HPO:sdoelken]"} {"concept_id": "C4025412", "aliases": ["Midline nasal groove", "Central nasal groove"], "types": ["T190"], "canonical_name": "Midline nasal groove", "definition": "An abnormal groove on the midline of the nose that may extend to the nasal tip. [HPO:sdoelken]"} {"concept_id": "C4025413", "aliases": ["Curved fingers"], "types": ["T190"], "canonical_name": "Curved fingers"} {"concept_id": "C4025414", "aliases": [], "types": ["T019"], "canonical_name": "Radial club hand", "definition": "Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius. [HPO:probinson, PMID:28603568]"} {"concept_id": "C4025415", "aliases": [], "types": ["T019"], "canonical_name": "Hand monodactyly"} {"concept_id": "C4025416", "aliases": [], "types": ["T033"], "canonical_name": "Decreased carpal angles of wrist"} {"concept_id": "C4025417", "aliases": [], "types": ["T190"], "canonical_name": "Narrow joint spaces of wrist"} {"concept_id": "C4025418", "aliases": [], "types": ["T190"], "canonical_name": "Spurred ulnar metaphysis"} {"concept_id": "C4025419", "aliases": [], "types": ["T190"], "canonical_name": "Sloping ulnar metaphysis", "definition": "A sloped configuration of the metaphysis (shaft) of the ulna. [HPO:curators]"} {"concept_id": "C4025420", "aliases": [], "types": ["T190"], "canonical_name": "Pointed ulnar metaphysis"} {"concept_id": "C4025421", "aliases": [], "types": ["T033"], "canonical_name": "Lytic defects of ulnar metaphysis"} {"concept_id": "C4025422", "aliases": [], "types": ["T190"], "canonical_name": "Cupped ulnar metaphysis"} {"concept_id": "C4025423", "aliases": [], "types": ["T033"], "canonical_name": "Corner fragments of ulnar metaphysis"} {"concept_id": "C4025424", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of ulnar metaphysis"} {"concept_id": "C4025426", "aliases": [], "types": ["T033"], "canonical_name": "Long styloid process of ulna"} {"concept_id": "C4025427", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the styloid process of ulna"} {"concept_id": "C4025428", "aliases": [], "types": ["T190"], "canonical_name": "Irregular olecranon"} {"concept_id": "C4025429", "aliases": [], "types": ["T190"], "canonical_name": "Curved olecranon"} {"concept_id": "C4025430", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the olecranon"} {"concept_id": "C4025431", "aliases": [], "types": ["T033"], "canonical_name": "Patchy sclerosis of radial diaphysis"} {"concept_id": "C4025432", "aliases": [], "types": ["T033"], "canonical_name": "Lytic defects of radial diaphysis"} {"concept_id": "C4025433", "aliases": [], "types": ["T190"], "canonical_name": "Spurs of radial diaphysis"} {"concept_id": "C4025434", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of radial diaphysis", "definition": "An anomaly of the radial diaphysis. [HPO:probinson]"} {"concept_id": "C4025435", "aliases": [], "types": ["T190"], "canonical_name": "Spurred radial metaphysis"} {"concept_id": "C4025436", "aliases": [], "types": ["T190"], "canonical_name": "Medially sloping radial metaphysis"} {"concept_id": "C4025437", "aliases": [], "types": ["T190"], "canonical_name": "Sloping radial metaphysis"} {"concept_id": "C4025438", "aliases": [], "types": ["T190"], "canonical_name": "Sclerotic radial metaphysis with longitudinal striations"} {"concept_id": "C4025439", "aliases": [], "types": ["T033"], "canonical_name": "Lytic defects of radial metaphysis"} {"concept_id": "C4025440", "aliases": [], "types": ["T033"], "canonical_name": "Irregular ossification of the radial metaphysis"} {"concept_id": "C4025441", "aliases": [], "types": ["T190"], "canonical_name": "Flared radial metaphysis", "definition": "The presence of a splayed (i.e.,flared) metaphyseal segment of the radius. [HPO:probinson]"} {"concept_id": "C4025442", "aliases": [], "types": ["T190"], "canonical_name": "Exostoses of the radial metaphysis"} {"concept_id": "C4025443", "aliases": [], "types": ["T190"], "canonical_name": "Cupped radial metaphyses"} {"concept_id": "C4025444", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of radial metaphyses"} {"concept_id": "C4025445", "aliases": [], "types": ["T190"], "canonical_name": "Medially fused radial epiphyseal plates"} {"concept_id": "C4025446", "aliases": [], "types": ["T033"], "canonical_name": "Premature fusion of the radial epiphyseal plates", "definition": "A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone. [HPO:sdoelken]"} {"concept_id": "C4025447", "aliases": [], "types": ["T190"], "canonical_name": "Small radial epiphyses"} {"concept_id": "C4025448", "aliases": [], "types": ["T190"], "canonical_name": "Medially sloping radial epiphyses"} {"concept_id": "C4025449", "aliases": [], "types": ["T190"], "canonical_name": "Sloping radial epiphyses"} {"concept_id": "C4025450", "aliases": [], "types": ["T190"], "canonical_name": "Sclerotic radial epiphyses"} {"concept_id": "C4025451", "aliases": [], "types": ["T190"], "canonical_name": "Round radial epiphyses"} {"concept_id": "C4025452", "aliases": [], "types": ["T190"], "canonical_name": "Large radial epiphyses"} {"concept_id": "C4025453", "aliases": [], "types": ["T190"], "canonical_name": "Irregular radial epiphyses"} {"concept_id": "C4025454", "aliases": [], "types": ["T190"], "canonical_name": "Medially flattened radial epiphyses"} {"concept_id": "C4025455", "aliases": [], "types": ["T190"], "canonical_name": "Flattened radial epiphyses"} {"concept_id": "C4025456", "aliases": [], "types": ["T190"], "canonical_name": "Medially deficient radial epiphyses"} {"concept_id": "C4025457", "aliases": ["Chevron-shaped distal radial epiphysis"], "types": ["T190"], "canonical_name": "Cone-shaped distal radial epiphysis", "definition": "The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance. []"} {"concept_id": "C4025458", "aliases": [], "types": ["T190"], "canonical_name": "Constricted radial neck"} {"concept_id": "C4025459", "aliases": [], "types": ["T190"], "canonical_name": "Flattened radial head"} {"concept_id": "C4025460", "aliases": [], "types": ["T190"], "canonical_name": "Broad ulna", "definition": "Increased width of the ulna. [HPO:probinson]"} {"concept_id": "C4025461", "aliases": [], "types": ["T190"], "canonical_name": "Pointed ulna"} {"concept_id": "C4025462", "aliases": [], "types": ["T190"], "canonical_name": "Notched ulna"} {"concept_id": "C4025463", "aliases": [], "types": ["T190"], "canonical_name": "Exostoses of the radius"} {"concept_id": "C4025464", "aliases": [], "types": ["T190"], "canonical_name": "Exostoses of the ulna"} {"concept_id": "C4025465", "aliases": [], "types": ["T033"], "canonical_name": "Posteriorly dislocated ulna"} {"concept_id": "C4025466", "aliases": [], "types": ["T047"], "canonical_name": "Pseudarthrosis of the radius"} {"concept_id": "C4025467", "aliases": [], "types": ["T190"], "canonical_name": "Deformed radius"} {"concept_id": "C4025468", "aliases": [], "types": ["T190"], "canonical_name": "Constricted radius"} {"concept_id": "C4025470", "aliases": [], "types": ["T190"], "canonical_name": "Undermodelled forearm bones"} {"concept_id": "C4025471", "aliases": [], "types": ["T190"], "canonical_name": "Slender forearm bones"} {"concept_id": "C4025472", "aliases": ["Increased bone density of forearm bones"], "types": ["T190"], "canonical_name": "Sclerotic forearm bones"} {"concept_id": "C4025473", "aliases": [], "types": ["T033"], "canonical_name": "Sclerotic foci in forearm bones"} {"concept_id": "C4025474", "aliases": [], "types": ["T047"], "canonical_name": "Pseudarthrosis of the forearm bones"} {"concept_id": "C4025475", "aliases": [], "types": ["T047"], "canonical_name": "Osteoporotic forearm bones"} {"concept_id": "C4025476", "aliases": [], "types": ["T033"], "canonical_name": "Lytic defects of the forearm bones"} {"concept_id": "C4025478", "aliases": [], "types": ["T190"], "canonical_name": "Exostoses of the forearm bones"} {"concept_id": "C4025479", "aliases": ["Deformed forearm bones"], "types": ["T190"], "canonical_name": "Deformed forearm bones"} {"concept_id": "C4025480", "aliases": [], "types": ["T190"], "canonical_name": "Cross-fusion of the forearm bones"} {"concept_id": "C4025481", "aliases": ["Bowed forearm bones"], "types": ["T190"], "canonical_name": "Bowed forearm bones", "definition": "A bending or abnormal curvature affecting either the radius, the ulna, or both. [HPO:probinson]"} {"concept_id": "C4025482", "aliases": ["Bone-in-a-bone appearance of forearm"], "types": ["T033"], "canonical_name": "Bone-in-a-bone appearance of forearm", "definition": "A descriptive term for a forearm bone that appears to have an additional bone within it on radiography. [HPO:probinson]"} {"concept_id": "C4025483", "aliases": ["Angulated forearm bones"], "types": ["T190"], "canonical_name": "Angulated forearm bones"} {"concept_id": "C4025484", "aliases": ["Flared wide portion of elbow bone"], "types": ["T033"], "canonical_name": "Flared elbow metaphyses"} {"concept_id": "C4025485", "aliases": ["Abnormal wide portion of elbow bone"], "types": ["T190"], "canonical_name": "Abnormality of the elbow metaphyses"} {"concept_id": "C4025486", "aliases": ["Irregular end part of the elbow bone"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the elbow"} {"concept_id": "C4025487", "aliases": ["Delayed maturation of the end part of the elbow bone"], "types": ["T033"], "canonical_name": "Delayed elbow epiphyseal ossification", "definition": "A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow. [HPO:probinson]"} {"concept_id": "C4025488", "aliases": ["Abnormality of end part of the elbow bone"], "types": ["T190"], "canonical_name": "Abnormality of the epiphyses of the elbow"} {"concept_id": "C4025489", "aliases": [], "types": ["T190"], "canonical_name": "Irregular articular surfaces of the elbow joints"} {"concept_id": "C4025490", "aliases": ["Narrow joint spaces of the elbow"], "types": ["T190"], "canonical_name": "Narrow joint spaces of the elbow"} {"concept_id": "C4025491", "aliases": ["Abnormality of the joint spaces of the elbow"], "types": ["T190"], "canonical_name": "Abnormality of the joint spaces of the elbow"} {"concept_id": "C4025492", "aliases": [], "types": ["T191"], "canonical_name": "Synovial chondromatosis of the elbow"} {"concept_id": "C4025493", "aliases": [], "types": ["T190"], "canonical_name": "Stippled calcification of the elbow"} {"concept_id": "C4025494", "aliases": ["Bone fusion involving the elbow"], "types": ["T190"], "canonical_name": "Synostosis involving the elbow"} {"concept_id": "C4025495", "aliases": ["Slender shaft of long bone in upper arm"], "types": ["T190"], "canonical_name": "Slender humeral diaphysis"} {"concept_id": "C4025496", "aliases": ["Increased bone density in shaft of long bone in upper arm"], "types": ["T047"], "canonical_name": "Sclerosis of humeral diaphysis"} {"concept_id": "C4025497", "aliases": [], "types": ["T190"], "canonical_name": "Sclerotic foci of humeral diaphysis"} {"concept_id": "C4025498", "aliases": [], "types": ["T033"], "canonical_name": "Periosteal new bone of humeral diaphysis"} {"concept_id": "C4025499", "aliases": [], "types": ["T033"], "canonical_name": "Ground glass opacity of humeral diaphysis"} {"concept_id": "C4025500", "aliases": [], "types": ["T033"], "canonical_name": "Cortical thickening of humeral diaphysis"} {"concept_id": "C4025501", "aliases": [], "types": ["T190"], "canonical_name": "Cortical irregularity of humeral diaphysis", "definition": "An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus. [HPO:curators]"} {"concept_id": "C4025502", "aliases": ["Abnormality of shaft of long bone in upper arm"], "types": ["T190"], "canonical_name": "Abnormality of the humeral diaphysis", "definition": "An anomaly of the humeral diaphysis. [HPO:probinson]"} {"concept_id": "C4025503", "aliases": ["Speckled calcification in metaphysis of long bone of upper arm"], "types": ["T190"], "canonical_name": "Stippled calcification of humeral metaphysis"} {"concept_id": "C4025504", "aliases": ["Square metaphysis of long bone of upper arm"], "types": ["T190"], "canonical_name": "Square humeral metaphysis"} {"concept_id": "C4025505", "aliases": ["Spurred metaphysis of long bone of upper arm"], "types": ["T190"], "canonical_name": "Spurred humeral metaphysis"} {"concept_id": "C4025506", "aliases": ["Laterally sloping metaphysis of long bone of upper arm"], "types": ["T190"], "canonical_name": "Laterally sloping humeral metaphysis"} {"concept_id": "C4025507", "aliases": ["Sloping metaphysis of long bone of upper arm"], "types": ["T190"], "canonical_name": "Sloping humeral metaphysis"} {"concept_id": "C4025508", "aliases": [], "types": ["T190"], "canonical_name": "Sclerotic humeral metaphysis with longitudinal striations"} {"concept_id": "C4025509", "aliases": ["Stiffening of wide portion of long bone of upper arm", "Hardening of wide portion of long bone of upper arm"], "types": ["T047"], "canonical_name": "Sclerotic humeral metaphysis"} {"concept_id": "C4025510", "aliases": ["Pointed wide portion of long bone of upper arm"], "types": ["T190"], "canonical_name": "Pointed humeral metaphysis"} {"concept_id": "C4025511", "aliases": [], "types": ["T033"], "canonical_name": "Normal-density transverse humeral bands"} {"concept_id": "C4025512", "aliases": [], "types": ["T190"], "canonical_name": "Lytic defects of the humeral metaphysis"} {"concept_id": "C4025513", "aliases": ["Irregular bone maturation of the wide portion of the long bone in upper arm"], "types": ["T190"], "canonical_name": "Irregular ossification of humeral metaphyses"} {"concept_id": "C4025514", "aliases": [], "types": ["T190"], "canonical_name": "Frayed humeral metaphyses"} {"concept_id": "C4025515", "aliases": [], "types": ["T033"], "canonical_name": "Cortical subperiosteal resorption of humeral metaphyses"} {"concept_id": "C4025517", "aliases": ["Abnormality of the wide portion of the long bone in upper arm"], "types": ["T190"], "canonical_name": "Abnormality of the humeral metaphyses"} {"concept_id": "C4025518", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the humeral epiphyseal plate"} {"concept_id": "C4025519", "aliases": [], "types": ["T190"], "canonical_name": "Stippled calcification of the humeral epiphyses"} {"concept_id": "C4025520", "aliases": ["Small end part of long bone in upper arm"], "types": ["T190"], "canonical_name": "Small humeral epiphyses"} {"concept_id": "C4025521", "aliases": ["Round end part of long bone in upper arm"], "types": ["T190"], "canonical_name": "Round humeral epiphyses"} {"concept_id": "C4025522", "aliases": ["Large end part of long bone in upper arm"], "types": ["T190"], "canonical_name": "Large humeral epiphyses"} {"concept_id": "C4025523", "aliases": [], "types": ["T190"], "canonical_name": "Irregular ossification of the humeral epiphyses"} {"concept_id": "C4025524", "aliases": ["Irregular end part of long bone in upper arm"], "types": ["T190"], "canonical_name": "Irregular humeral epiphyses"} {"concept_id": "C4025525", "aliases": ["Flattened end part of long bone in upper arm"], "types": ["T190"], "canonical_name": "Flattened humeral epiphyses"} {"concept_id": "C4025526", "aliases": ["Accelerated maturation of end part of long bone in upper arm"], "types": ["T190"], "canonical_name": "Advanced ossification of the humeral epiphysis", "definition": "Ossification of the humeral epiphysis at an earlier age than normal. [HPO:probinson]"} {"concept_id": "C4025527", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the deltoid tuberosities"} {"concept_id": "C4025528", "aliases": ["Abnormal head of long bone in upper arm"], "types": ["T190"], "canonical_name": "Abnormality of the humeral heads"} {"concept_id": "C4025529", "aliases": [], "types": ["T190"], "canonical_name": "Undermodeled humerus"} {"concept_id": "C4025530", "aliases": ["Triangular long bone of upper arm"], "types": ["T190"], "canonical_name": "Triangular humerus"} {"concept_id": "C4025531", "aliases": ["Tapered long bone of upper arm"], "types": ["T190"], "canonical_name": "Tapered humerus"} {"concept_id": "C4025532", "aliases": ["False joint (long bone in upper arm)"], "types": ["T190"], "canonical_name": "Humeral pseudarthrosis"} {"concept_id": "C4025533", "aliases": [], "types": ["T033"], "canonical_name": "Periosteal new bone of humerus"} {"concept_id": "C4025534", "aliases": ["Humeral oval transradiancy"], "types": ["T033"], "canonical_name": "Oval transradiancy of humerus"} {"concept_id": "C4025535", "aliases": [], "types": ["T047"], "canonical_name": "Osteoporotic humerus"} {"concept_id": "C4025536", "aliases": ["Lytic defects of the humerus"], "types": ["T033"], "canonical_name": "Humeral lytic defects", "definition": "Destruction of an area of humerus bone due to a disease process, such as cancer. []"} {"concept_id": "C4025537", "aliases": [], "types": ["T190"], "canonical_name": "Humerus varus"} {"concept_id": "C4025538", "aliases": [], "types": ["T190"], "canonical_name": "Humeral exostoses", "definition": "Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. [HPO:probinson]"} {"concept_id": "C4025539", "aliases": ["Deformed long bone in upper arm"], "types": ["T190"], "canonical_name": "Deformed humerus"} {"concept_id": "C4025540", "aliases": ["Crumpled long bone in upper arm"], "types": ["T190"], "canonical_name": "Crumpled humerus"} {"concept_id": "C4025541", "aliases": [], "types": ["T033"], "canonical_name": "Humeral cortical thinning"} {"concept_id": "C4025542", "aliases": [], "types": ["T033"], "canonical_name": "Humeral cortical thickening"} {"concept_id": "C4025543", "aliases": [], "types": ["T033"], "canonical_name": "Humeral cortical irregularity"} {"concept_id": "C4025544", "aliases": [], "types": ["T033"], "canonical_name": "Coarse humeral trabeculae"} {"concept_id": "C4025545", "aliases": ["Notched long bone in upper arm"], "types": ["T190"], "canonical_name": "Bifid humerus", "definition": "Clefting affecting the humerus. [HPO:curators]"} {"concept_id": "C4025546", "aliases": ["Angulated long bone in upper arm"], "types": ["T033"], "canonical_name": "Angulated humerus"} {"concept_id": "C4025547", "aliases": ["Increased bone density in central part of long bone of upper limbs"], "types": ["T047"], "canonical_name": "Diaphyseal sclerosis of the upper limbs", "definition": "An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]"} {"concept_id": "C4025548", "aliases": [], "types": ["T190"], "canonical_name": "Cortical diaphyseal thickening of the upper limbs"} {"concept_id": "C4025549", "aliases": [], "types": ["T190"], "canonical_name": "Cortical diaphyseal irregularity of the upper limbs"} {"concept_id": "C4025550", "aliases": ["Spurred wide portion of upper limb bone"], "types": ["T190"], "canonical_name": "Spurred metaphyses of the upper limbs"} {"concept_id": "C4025551", "aliases": ["Increased bone density in wide portion of the upper limb bones"], "types": ["T047"], "canonical_name": "Sclerosis of metaphyses of the upper limbs"} {"concept_id": "C4025552", "aliases": [], "types": ["T190"], "canonical_name": "Sclerosis with transverse striations in metaphyses of the upper limbs"} {"concept_id": "C4025553", "aliases": [], "types": ["T033"], "canonical_name": "Normal density transverse bands in metaphyses of the upper limbs"} {"concept_id": "C4025554", "aliases": [], "types": ["T190"], "canonical_name": "Lytic defects in metaphyses of the upper limbs"} {"concept_id": "C4025555", "aliases": ["Cupped wide portion of the upper limb bone"], "types": ["T190"], "canonical_name": "Cupped metaphyses of the upper limbs"} {"concept_id": "C4025556", "aliases": ["Small end part of upper limb bones"], "types": ["T190"], "canonical_name": "Small epiphyses of the upper limbs"} {"concept_id": "C4025557", "aliases": ["Round end part of upper limb bones"], "types": ["T190"], "canonical_name": "Round epiphyses of the upper limbs"} {"concept_id": "C4025558", "aliases": ["Irregular end part of upper limb bones"], "types": ["T190"], "canonical_name": "Irregular epiphyses of the upper limbs"} {"concept_id": "C4025559", "aliases": ["Fragmented end part of upper limb bones"], "types": ["T190"], "canonical_name": "Fragmented epiphyses of the upper limbs"} {"concept_id": "C4025560", "aliases": [], "types": ["T190"], "canonical_name": "Delayed upper limb epiphyseal ossification", "definition": "A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs. [HPO:probinson]"} {"concept_id": "C4025561", "aliases": ["Calcification of the soft-tissue around the shoulders"], "types": ["T033"], "canonical_name": "Soft-tissue ossification around the shoulders", "definition": "Formation of calcified tissue in the soft tissues surrounding the shoulder. [HPO:probinson]"} {"concept_id": "C4025562", "aliases": [], "types": ["T033"], "canonical_name": "Stippled calcification of the shoulder"} {"concept_id": "C4025563", "aliases": [], "types": ["T190"], "canonical_name": "Laterally deficient tibial plateaux"} {"concept_id": "C4025564", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the tibial plateaux"} {"concept_id": "C4025565", "aliases": [], "types": ["T033"], "canonical_name": "Late-onset distal muscle weakness"} {"concept_id": "C4025566", "aliases": [], "types": ["T190"], "canonical_name": "Muscle abnormality related to mitochondrial dysfunction"} {"concept_id": "C4025568", "aliases": ["Type 1 and type 2 muscle fibre minicore regions"], "types": ["T033"], "canonical_name": "Type 1 and type 2 muscle fiber minicore regions", "definition": "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers. [HPO:probinson]"} {"concept_id": "C4025569", "aliases": [], "types": ["T033"], "canonical_name": "Eunuchoid habitus", "definition": "A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more). [HPO:probinson]"} {"concept_id": "C4025570", "aliases": ["Underdeveloped lymphatic vessels"], "types": ["T019"], "canonical_name": "Hypoplasia of lymphatic vessels", "definition": "Congenital underdevelopment of lymph vessels. [HPO:probinson]"} {"concept_id": "C4025571", "aliases": ["Type 1 fibres relatively smaller than type 2 fibres"], "types": ["T033"], "canonical_name": "Type 1 fibers relatively smaller than type 2 fibers", "definition": "The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. [HPO:curators]"} {"concept_id": "C4025572", "aliases": [], "types": ["T033"], "canonical_name": "Episodic flaccid weakness", "definition": "Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. [HPO:probinson]"} {"concept_id": "C4025573", "aliases": [], "types": ["T033"], "canonical_name": "Increased muscle fatiguability", "definition": "An abnormal, increased fatiguability of the musculature. [HPO:curators]"} {"concept_id": "C4025574", "aliases": [], "types": ["T033"], "canonical_name": "Genetic anticipation with paternal anticipation bias", "definition": "A type of genetic anticipation observed predominantly upon transmission from affected males. [HPO:probinson]"} {"concept_id": "C4025575", "aliases": [], "types": ["T047"], "canonical_name": "Myotonia with warm-up phenomenon", "definition": "Myotonia that occurs after a period of rest and decreases with continuing exercise. [HPO:probinson, PMID:7678441]"} {"concept_id": "C4025576", "aliases": [], "types": ["T033"], "canonical_name": "EMG: myotonic runs", "definition": "Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). [HPO:probinson]"} {"concept_id": "C4025577", "aliases": ["Absent end part of the outermost bone of the little finger", "Absent end part of the outermost bone of the pinkie finger", "Absent end part of the outermost bone of the pinky finger"], "types": ["T190"], "canonical_name": "Absent epiphysis of the distal phalanx of the 5th finger", "definition": "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger. [HPO:curators]"} {"concept_id": "C4025578", "aliases": [], "types": ["T033"], "canonical_name": "Late-onset proximal muscle weakness", "definition": "Lack of strength of the proximal musculature occurring late in the clinical course. [HPO:curators]"} {"concept_id": "C4025579", "aliases": ["Large beaked nose"], "types": ["T190"], "canonical_name": "Large beaked nose"} {"concept_id": "C4025580", "aliases": [], "types": ["T033"], "canonical_name": "Pace of progression"} {"concept_id": "C4025581", "aliases": [], "types": ["T033"], "canonical_name": "Amyotrophy of the musculature of the pelvis", "definition": "Muscular atrophy affecting the muscles of the pelvis. [HPO:curators]"} {"concept_id": "C4025582", "aliases": [], "types": ["T033"], "canonical_name": "Reduced dihydropyrimidine dehydrogenase level", "definition": "An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level. [HPO:gcarletti]"} {"concept_id": "C4025583", "aliases": [], "types": ["T033"], "canonical_name": "Cellular metachromasia", "definition": "Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans. [HPO:probinson, PMID:4195824]"} {"concept_id": "C4025584", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of glycoside metabolism", "definition": "Abnormality of glycoside metabolism. [HPO:probinson]"} {"concept_id": "C4025585", "aliases": ["High urine lactic acid levels", "Increased urine lactate"], "types": ["T033"], "canonical_name": "Lacticaciduria", "definition": "An increased concentration of lactic acid in the urine. [HPO:probinson]"} {"concept_id": "C4025586", "aliases": [], "types": ["T033"], "canonical_name": "Electron transfer flavoprotein-ubiquinone oxidoreductase defect", "definition": "A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase. [PMID:2989828]"} {"concept_id": "C4025587", "aliases": ["Reducted HPPD activity"], "types": ["T033"], "canonical_name": "Reduced 4-Hydroxyphenylpyruvate dioxygenase level", "definition": "An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. [HPO:curators]"} {"concept_id": "C4025588", "aliases": ["Signs and symptoms begin before 15 years of age"], "types": ["T079"], "canonical_name": "Juvenile onset", "definition": "Onset of signs or symptoms of disease between the age of 5 and 15 years. [HPO:probinson]"} {"concept_id": "C4025589", "aliases": ["Positive FeCl3 test"], "types": ["T033"], "canonical_name": "Positive ferric chloride test", "definition": "If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood. [HPO:probinson]"} {"concept_id": "C4025590", "aliases": [], "types": ["T033"], "canonical_name": "Foam cells with lamellar inclusion bodies", "definition": "The presence of foam cells that contain lamellar inclusion bodies. [HPO:probinson]"} {"concept_id": "C4025591", "aliases": [], "types": ["T033"], "canonical_name": "Absent urinary urothione", "definition": "Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine. [HPO:probinson, PMID:6960353]"} {"concept_id": "C4025592", "aliases": [], "types": ["T079"], "canonical_name": "Late onset", "definition": "A type of adult onset with onset of symptoms after the age of 60 years. [HPO:probinson]"} {"concept_id": "C4025593", "aliases": ["High intracellular Na", "Increased intracellular Na+ levels"], "types": ["T033"], "canonical_name": "Increased intracellular sodium", "definition": "An abnormally increased sodium concentration in the cytosol. [HPO:gcarletti]"} {"concept_id": "C4025594", "aliases": [], "types": ["T033"], "canonical_name": "Positive regitine blocking test", "definition": "A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension. [HPO:probinson]"} {"concept_id": "C4025595", "aliases": [], "types": ["T047"], "canonical_name": "Viral infection-induced rhabdomyolysis", "definition": "Rhabdomyolysis induced by a viral infection. [HPO:probinson]"} {"concept_id": "C4025596", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of connective tissue", "definition": "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). [HPO:curators]"} {"concept_id": "C4025597", "aliases": [], "types": ["T190"], "canonical_name": "Subsarcolemmal accumulations of abnormally shaped mitochondria", "definition": "An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. [HPO:probinson]"} {"concept_id": "C4025598", "aliases": [], "types": ["T033"], "canonical_name": "Urinary glycosaminoglycan excretion", "definition": "Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit. [HPO:probinson]"} {"concept_id": "C4025599", "aliases": ["Increased serum iduronate sulfatase level"], "types": ["T033"], "canonical_name": "Increased iduronate sulfatase level", "definition": "An increased level of iduronate-2-sulfatase activity in the blood. [HPO:probinson]"} {"concept_id": "C4025600", "aliases": [], "types": ["T033"], "canonical_name": "Reduced xanthine dehydrogenase level", "definition": "An abnormal reduction in xanthine dehydrogenase level. [HPO:probinson]"} {"concept_id": "C4025601", "aliases": ["Delayed oxidation of acetaldehyde"], "types": ["T033"], "canonical_name": "Reduced acetaldehyde dehydrogenase level", "definition": "Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism. [PMID:17718394]"} {"concept_id": "C4025602", "aliases": [], "types": ["T033"], "canonical_name": "Ornithinuria", "definition": "An increased concentration of ornithine in the urine. [HPO:probinson]"} {"concept_id": "C4025603", "aliases": ["Glutaric acidemia", "Glutarate acidemia"], "types": ["T033"], "canonical_name": "Elevated circulating glutaric acid concentration", "definition": "An increased concentration of glutaric acid in the blood. [HPO:gcarletti]"} {"concept_id": "C4025604", "aliases": ["Parathormone-independent increased renal tubular Ca reabsorption", "Parathormone-independent increased renal tubular Ca2+ reabsorption"], "types": ["T033"], "canonical_name": "Parathormone-independent increased renal tubular calcium reabsorption", "definition": "An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. [HPO:probinson, PMID:23802516]"} {"concept_id": "C4025605", "aliases": ["Reduced ration of renal Ca clearance to creatinine clearance", "Reduced ration of renal Ca2+ to creatinine clearance", "Reduced ration of kidney calcium clearance to creatinine clearance"], "types": ["T033"], "canonical_name": "Reduced ratio of renal calcium clearance to creatinine clearance", "definition": "A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01. [HPO:probinson]"} {"concept_id": "C4025606", "aliases": [], "types": ["T033"], "canonical_name": "High urinary gonadotropin level", "definition": "An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism. []"} {"concept_id": "C4025607", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urine pyrophosphate", "definition": "An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. [HPO:probinson]"} {"concept_id": "C4025609", "aliases": [], "types": ["T046"], "canonical_name": "EMG: axonal abnormality", "definition": "Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. [HPO:probinson]"} {"concept_id": "C4025610", "aliases": [], "types": ["T033"], "canonical_name": "Peripheral dysmyelination", "definition": "Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination. [HPO:probinson]"} {"concept_id": "C4025611", "aliases": ["Total immunoglobulin A deficiency", "Decreased total IgA in blood"], "types": ["T033"], "canonical_name": "Decreased circulating total IgA", "definition": "Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L). [HPO:probinson]"} {"concept_id": "C4025612", "aliases": [], "types": ["T033"], "canonical_name": "Polyclonal elevation of IgM", "definition": "A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis. [PMID:11508831]"} {"concept_id": "C4025613", "aliases": [], "types": ["T049"], "canonical_name": "Increased rate of premature chromosome condensation", "definition": "An increased rate of premature chromosome condensation. [HPO:probinson]"} {"concept_id": "C4025614", "aliases": [], "types": ["T033"], "canonical_name": "EMG: chronic denervation signs", "definition": "Evidence of chronic denervation on electromyography. [HPO:probinson]"} {"concept_id": "C4025615", "aliases": [], "types": ["T190"], "canonical_name": "Decreased size of nerve terminals", "definition": "A reduction in the size of nerve terminals. [HPO:probinson]"} {"concept_id": "C4025616", "aliases": [], "types": ["T033"], "canonical_name": "CNS hypomyelination", "definition": "Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. [HPO:probinson]"} {"concept_id": "C4025617", "aliases": [], "types": ["T190"], "canonical_name": "Atlantoaxial abnormality", "definition": "An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. [HPO:probinson]"} {"concept_id": "C4025618", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal synaptic transmission at the neuromuscular junction", "definition": "Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. [HPO:probinson]"} {"concept_id": "C4025619", "aliases": [], "types": ["T047"], "canonical_name": "Peripheral axonal atrophy", "definition": "Atrophic changes of axons of the peripheral nervous system. [HPO:probinson]"} {"concept_id": "C4025620", "aliases": ["Abnormality of the femoral head", "Abnormal head of thigh bone"], "types": ["T190"], "canonical_name": "Abnormal femoral head morphology", "definition": "An abnormality of the femoral head. [HPO:probinson]"} {"concept_id": "C4025621", "aliases": ["Abnormal neck of thigh bone", "Abnormality of the femoral neck"], "types": ["T190"], "canonical_name": "Abnormal femoral neck morphology", "definition": "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). [HPO:probinson]"} {"concept_id": "C4025622", "aliases": ["Abnormality of the femoral neck or head region", "Abnormal neck or head of thigh bone"], "types": ["T190"], "canonical_name": "Abnormal femoral neck/head morphology"} {"concept_id": "C4025623", "aliases": [], "types": ["T033"], "canonical_name": "Elevated intracellular cystine", "definition": "An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells. [HPO:probinson]"} {"concept_id": "C4025624", "aliases": [], "types": ["T033"], "canonical_name": "Endopolyploidy on chromosome studies of bone marrow", "definition": "An increase in the number of chromosome sets per cell in bone marrow cells. [HPO:probinson]"} {"concept_id": "C4025625", "aliases": [], "types": ["T033"], "canonical_name": "Impaired lymphocyte transformation with phytohemagglutinin", "definition": "Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes. [HPO:probinson]"} {"concept_id": "C4025626", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary norepinephrine", "definition": "An increased concentration of noradrenaline in the urine. [HPO:probinson]"} {"concept_id": "C4025627", "aliases": [], "types": ["T046"], "canonical_name": "Focal necrosis of right ventricular muscle cells"} {"concept_id": "C4025628", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal enchondral ossification", "definition": "An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. [HPO:probinson]"} {"concept_id": "C4025629", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating catecholamine level", "definition": "An abnormal increase in catecholamine concentration in the blood. [HPO:probinson]"} {"concept_id": "C4025630", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal bone structure", "definition": "Any anomaly in the composite material or the layered arrangement of the bony skeleton. [HPO:probinson]"} {"concept_id": "C4025631", "aliases": [], "types": ["T190"], "canonical_name": "Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes"} {"concept_id": "C4025632", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal hair laboratory examination"} {"concept_id": "C4025634", "aliases": ["Mitochondrial PCC defect"], "types": ["T033"], "canonical_name": "Mitochondrial propionyl-CoA carboxylase defect"} {"concept_id": "C4025635", "aliases": ["High urine arginine levels"], "types": ["T033"], "canonical_name": "Argininuria", "definition": "A increased concentration of arginine in the urine. [HPO:probinson, PMID:18901181, PMID:20240447]"} {"concept_id": "C4025636", "aliases": [], "types": ["T033"], "canonical_name": "Reduced orotidine 5-prime phosphate decarboxylase level", "definition": "An abnormal decrease in orotidine 5'-phosphate decarboxylase level. [HPO:gcarletti]"} {"concept_id": "C4025637", "aliases": ["Increased phosphoribosyl pyrophosphate synthetase activity", "Increased PRPS1 activity"], "types": ["T033"], "canonical_name": "Increased phosphoribosylpyrophosphate synthetase level", "definition": "Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. [PMID:4200723]"} {"concept_id": "C4025638", "aliases": [], "types": ["T047"], "canonical_name": "Hyperpepsinogenemia I"} {"concept_id": "C4025639", "aliases": [], "types": ["T049"], "canonical_name": "Prolonged G2 phase of cell cycle"} {"concept_id": "C4025640", "aliases": [], "types": ["T033"], "canonical_name": "Deficient excision of UV-induced pyrimidine dimers in DNA"} {"concept_id": "C4025641", "aliases": [], "types": ["T033"], "canonical_name": "Decreased pyruvate carboxylase activity", "definition": "A decreased rate of pyruvate carboxylase activity. [HPO:probinson]"} {"concept_id": "C4025642", "aliases": [], "types": ["T033"], "canonical_name": "Intracellular accumulation of autofluorescent lipopigment storage material", "definition": "The intracellular accumulation of autofluorescent storage material. [HPO:probinson, PMID:16455164]"} {"concept_id": "C4025643", "aliases": [], "types": ["T047"], "canonical_name": "Dibasicaminoaciduria", "definition": "An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His). []"} {"concept_id": "C4025644", "aliases": ["Hypothalamic GNRH deficiency"], "types": ["T033"], "canonical_name": "Hypothalamic gonadotropin-releasing hormone deficiency"} {"concept_id": "C4025645", "aliases": [], "types": ["T033"], "canonical_name": "Excessive purine production"} {"concept_id": "C4025646", "aliases": [], "types": ["T033"], "canonical_name": "T-wave inversion in the right precordial leads"} {"concept_id": "C4025647", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the spinocerebellar tracts", "definition": "An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. [HPO:probinson]"} {"concept_id": "C4025648", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal peripheral myelination", "definition": "An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. [DDD:fmunitoni, HPO:jbaets]"} {"concept_id": "C4025649", "aliases": [], "types": ["T033"], "canonical_name": "Reduced factor VIII activity", "definition": "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. [HPO:probinson]"} {"concept_id": "C4025650", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating lipid concentration", "definition": "Any deviation from the normal concentration of a lipid in the blood circulation. [HPO:probinson]"} {"concept_id": "C4025651", "aliases": ["Increased cortisol production", "Increased circulating cortisol level"], "types": ["T033"], "definition": "Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. [DDD:spark]", "canonical_name": "Hypercortisolism"} {"concept_id": "C4025652", "aliases": ["Abnormality of circulating hormone level", "Abnormal circulating hormone level"], "types": ["T033"], "canonical_name": "Abnormal circulating hormone concentration", "definition": "An abnormal concentration of a hormone in the blood. [HPO:probinson]"} {"concept_id": "C4025653", "aliases": ["Abnormality of serum amino acid levels", "Abnormality of serum amino acid level"], "types": ["T033"], "canonical_name": "Abnormal circulating amino acid concentration", "definition": "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. [HPO:curators]"} {"concept_id": "C4025655", "aliases": ["Pee issues", "Urine issues"], "types": ["T033"], "canonical_name": "Abnormality of urine homeostasis", "definition": "An abnormality of the composition of urine or the levels of its components. [HPO:probinson]"} {"concept_id": "C4025656", "aliases": ["Abnormality of cholesterol metabolism", "Abnormal cholesterol homeostasis"], "types": ["T033"], "definition": "Any deviation from the normal concentration of cholesterol in the blood circulation. []", "canonical_name": "Abnormal circulating cholesterol concentration"} {"concept_id": "C4025657", "aliases": [], "types": ["T190"], "canonical_name": "Trophic limb changes", "definition": "Trophic changes occurring in a limb. [HPO:probinson]"} {"concept_id": "C4025658", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the radioulnar joints"} {"concept_id": "C4025659", "aliases": ["Abnormality of the shoulder"], "types": ["T190"], "canonical_name": "Abnormal shoulder morphology", "definition": "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. [HPO:probinson]"} {"concept_id": "C4025660", "aliases": ["Abnormality of the ankles"], "types": ["T190"], "canonical_name": "Abnormality of the ankles"} {"concept_id": "C4025661", "aliases": [], "types": ["T033"], "canonical_name": "Enhanced neurotoxicity of vincristine"} {"concept_id": "C4025662", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the ulna", "definition": "An abnormality of the ulna bone of the forearm. [HPO:probinson]"} {"concept_id": "C4025663", "aliases": ["Abnormality of the shankbone", "Abnormality of the shinbone"], "types": ["T190"], "canonical_name": "Abnormality of tibia morphology", "definition": "Abnormality of the tibia (shinbone). [HPO:curators]"} {"concept_id": "C4025664", "aliases": ["Abnormality of the calf bone"], "types": ["T190"], "canonical_name": "Abnormality of fibula morphology", "definition": "An anomaly of the calf bone (fibula), one of the two bones of the calf. [HPO:probinson]"} {"concept_id": "C4025665", "aliases": ["Aplasia/Hypoplasia involving the CNS", "Absent/underdeveloped central nervous system tissue"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia involving the central nervous system", "definition": "Absence or underdevelopment of tissue in the central nervous system. [HPO:probinson]"} {"concept_id": "C4025666", "aliases": ["Abnormality of the forearm"], "types": ["T190"], "canonical_name": "Abnormality of the forearm", "definition": "An abnormality of the lower arm. [HPO:probinson]"} {"concept_id": "C4025667", "aliases": [], "types": ["T019"], "canonical_name": "Partial absence of cerebellar vermis", "definition": "Congenital absence of a part of the vermis of cerebellum. [HPO:probinson]"} {"concept_id": "C4025668", "aliases": [], "types": ["T033"], "canonical_name": "Leydig cell insensitivity to gonadotropin"} {"concept_id": "C4025669", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating ACTH level", "definition": "An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. [HPO:probinson]"} {"concept_id": "C4025670", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of chromosome segregation", "definition": "An abnormality of chromosome segregation. [HPO:probinson]"} {"concept_id": "C4025671", "aliases": [], "types": ["T047"], "canonical_name": "Sudden episodic apnea", "definition": "Recurrent bouts of sudden, severe apnea that may be life-threatening. [HPO:probinson]"} {"concept_id": "C4025672", "aliases": [], "types": ["T049"], "canonical_name": "Impaired memory B cell generation", "definition": "Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge. [HPO:probinson]"} {"concept_id": "C4025673", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent Burkholderia cepacia infections", "definition": "Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent. [HPO:probinson]"} {"concept_id": "C4025674", "aliases": ["Flared metaphysis of thigh bone"], "types": ["T190"], "canonical_name": "Flared femoral metaphysis"} {"concept_id": "C4025675", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the radius", "definition": "An abnormality of the radius. [HPO:probinson]"} {"concept_id": "C4025676", "aliases": ["Abnormality of the knee"], "types": ["T190"], "canonical_name": "Abnormality of the knee", "definition": "An abnormality of the knee joint or surrounding structures. [HPO:probinson]"} {"concept_id": "C4025678", "aliases": ["Abnormality of the trachea", "Abnormal trachea morphology"], "types": ["T190"], "canonical_name": "Abnormal tracheal morphology", "definition": "A structural anomaly of the trachea. [HPO:probinson]"} {"concept_id": "C4025679", "aliases": [], "types": ["T033"], "canonical_name": "Stippled chondral calcification", "definition": "Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints). [HPO:probinson, PMID:29246349]"} {"concept_id": "C4025680", "aliases": ["Abnormality of cartilage morphology", "Abnormal shape of cartilage"], "types": ["T190"], "canonical_name": "Abnormal cartilage morphology", "definition": "Any morphological abnormality of cartilage. [HPO:probinson]"} {"concept_id": "C4025681", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent enteroviral infections", "definition": "Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection. [HPO:probinson]"} {"concept_id": "C4025682", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent Serratia marcescens infections", "definition": "Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection. [HPO:probinson]"} {"concept_id": "C4025683", "aliases": [], "types": ["T033"], "canonical_name": "Lymph node hypoplasia", "definition": "Underdevelopment of the lymph nodes. [HPO:probinson]"} {"concept_id": "C4025684", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent abscess formation", "definition": "An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. [HPO:probinson]"} {"concept_id": "C4025685", "aliases": [], "types": ["T033"], "canonical_name": "Adrenal overactivity"} {"concept_id": "C4025686", "aliases": ["Abnormality of bone mineralization of skull", "Abnormality of bone calcification of calvarium", "Abnormality of bone calcification of skull", "Abnormality of bone mineralization of calvarium", "Abnormality of skull bone formation", "Abnormality of ossification of cranium"], "types": ["T033"], "canonical_name": "Abnormality of skull ossification", "definition": "An abnormality of the process of ossification of the skull. [HPO:probinson]"} {"concept_id": "C4025687", "aliases": ["Abnormality of the foramen magnum"], "types": ["T190"], "canonical_name": "Abnormal foramen magnum morphology", "definition": "Any abnormality of the foramen magnum. [HPO:probinson]"} {"concept_id": "C4025688", "aliases": ["Abnormality of cranial base", "Abnormality of the skull base"], "types": ["T190"], "canonical_name": "Abnormality of the skull base", "definition": "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. [HPO:curators]"} {"concept_id": "C4025689", "aliases": ["Abnormality of sinus frontalis", "Abnormality of the forehead sinus"], "types": ["T190"], "canonical_name": "Abnormality of frontal sinus", "definition": "An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4025690", "aliases": [], "types": ["T190"], "canonical_name": "Prenatal maternal abnormality"} {"concept_id": "C4025691", "aliases": ["Abnormality of the skull cap", "Abnormality of cranial vault", "Abnormality of calvarium", "Abnormality of the skullcap"], "types": ["T190"], "canonical_name": "Abnormality of the calvaria", "definition": "Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. [HPO:probinson]"} {"concept_id": "C4025692", "aliases": ["Abnormality of cranial bone morphology", "Abnormally shaped skull", "Abnormality of the shape of calvarium", "Abnormal cranium morphology", "Abnormality of the shape of cranium"], "types": ["T190"], "canonical_name": "Abnormality of calvarial morphology", "definition": "The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. [DDD:awilkie, HPO:probinson]"} {"concept_id": "C4025693", "aliases": [], "types": ["T047"], "canonical_name": "Hypertension associated with pheochromocytoma", "definition": "A type of hypertension associated with pheochromocytoma. [HPO:probinson]"} {"concept_id": "C4025694", "aliases": [], "types": ["T047"], "canonical_name": "Aneurysm of an abdominal artery"} {"concept_id": "C4025695", "aliases": [], "types": ["T190"], "canonical_name": "Right aortic arch with mirror image branching", "definition": "The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery. [DDD:dbrown, HPO:sdoelken]"} {"concept_id": "C4025696", "aliases": [], "types": ["T033"], "canonical_name": "Paresis of extensor muscles of the big toe"} {"concept_id": "C4025697", "aliases": ["GI atresia"], "types": ["T047"], "canonical_name": "Gastrointestinal atresia"} {"concept_id": "C4025698", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the peritoneum", "definition": "An abnormality of the peritoneum. [HPO:probinson]"} {"concept_id": "C4025699", "aliases": ["Abnormality of the stomach"], "types": ["T190"], "canonical_name": "Abnormal stomach morphology", "definition": "An abnormality of the stomach. [HPO:probinson]"} {"concept_id": "C4025700", "aliases": [], "types": ["T047"], "canonical_name": "Trichodysplasia", "definition": "Developmental dysplasia of the hair. [HPO:probinson]"} {"concept_id": "C4025701", "aliases": ["Abnormality of the cerebral cortex"], "types": ["T190"], "canonical_name": "Abnormal cerebral cortex morphology", "definition": "Any structural abnormality of the cerebral cortex. [HPO:probinson, PMID:31373394]"} {"concept_id": "C4025702", "aliases": [], "types": ["T033"], "canonical_name": "Deficit in nonword repetition", "definition": "Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory. [HPO:probinson]"} {"concept_id": "C4025703", "aliases": [], "types": ["T046"], "canonical_name": "Calcification of the small brain vessels", "definition": "Deposition of calcium salts within small blood vessels of the brain. [HPO:probinson]"} {"concept_id": "C4025704", "aliases": ["Abnormality of the corticospinal tract"], "types": ["T190"], "canonical_name": "Morphological abnormality of the corticospinal tract", "definition": "Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. [HPO:probinson]"} {"concept_id": "C4025705", "aliases": [], "types": ["T033"], "canonical_name": "Eye of the tiger anomaly of globus pallidus", "definition": "The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. [HPO:probinson, PMID:11110959, PMID:19881070]"} {"concept_id": "C4025706", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal globus pallidus morphology", "definition": "An abnormality of the globus pallidus. [HPO:probinson]"} {"concept_id": "C4025707", "aliases": ["Abnormal shape of motor neuron"], "types": ["T190"], "canonical_name": "Abnormal motor neuron morphology", "definition": "Any structural anomaly that affects the motor neuron. []"} {"concept_id": "C4025708", "aliases": [], "types": ["T019"], "canonical_name": "Cerebellar malformation"} {"concept_id": "C4025710", "aliases": ["Diminished movement"], "types": ["T033"], "canonical_name": "Diminished movement"} {"concept_id": "C4025711", "aliases": ["Abnormality of the caudate nucleus"], "types": ["T190"], "canonical_name": "Abnormal caudate nucleus morphology", "definition": "Any structural abnormality of the caudate nucleus. [HPO:probinson]"} {"concept_id": "C4025712", "aliases": ["Abnormality of the cerebellar vermis"], "types": ["T190"], "canonical_name": "Abnormal cerebellar vermis morphology", "definition": "An anomaly of the vermis of cerebellum. [HPO:probinson]"} {"concept_id": "C4025713", "aliases": [], "types": ["T047"], "canonical_name": "Paroxysmal drowsiness", "definition": "Attacks of disabling daytime drowsiness and low alertness. [HPO:probinson]"} {"concept_id": "C4025714", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the autonomic nervous system", "definition": "An abnormality of the autonomic nervous system. [HPO:probinson]"} {"concept_id": "C4025715", "aliases": ["Abnormality of the large intestine"], "types": ["T190"], "canonical_name": "Abnormal large intestine morphology", "definition": "Any abnormality of the large intestine. [HPO:probinson]"} {"concept_id": "C4025716", "aliases": ["Abnormality of the duodenum"], "types": ["T190"], "canonical_name": "Abnormal duodenum morphology", "definition": "An abnormality of the duodenum, i.e., the first section of the small intestine. [HPO:probinson]"} {"concept_id": "C4025717", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the small intestine", "definition": "An abnormality of the small intestine. [HPO:probinson]"} {"concept_id": "C4025718", "aliases": ["Early balding"], "types": ["T033"], "canonical_name": "Early balding", "definition": "Loss of scalp hair at an earlier than normal age. [HPO:probinson]"} {"concept_id": "C4025719", "aliases": [], "types": ["T190"], "canonical_name": "Dysgenesis of the cerebellar vermis", "definition": "Defective development of the vermis of cerebellum. [HPO:probinson]"} {"concept_id": "C4025720", "aliases": ["Pseudobulbar behavioural symptoms"], "types": ["T184"], "canonical_name": "Pseudobulbar behavioral symptoms", "definition": "Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. [HPO:sdoelken]"} {"concept_id": "C4025722", "aliases": ["Abnormality of the spinal cord"], "types": ["T033"], "canonical_name": "Abnormality of the spinal cord", "definition": "An abnormality of the spinal cord (myelon). [HPO:probinson]"} {"concept_id": "C4025723", "aliases": ["Abnormal shape of upper motor neuron"], "types": ["T190"], "canonical_name": "Abnormal upper motor neuron morphology", "definition": "Any structural anomaly that affects the upper motor neuron. []"} {"concept_id": "C4025724", "aliases": ["Abnormality of the cerebral ventricles"], "types": ["T190"], "canonical_name": "Abnormal cerebral ventricle morphology", "definition": "Any structural abnormality of the cerebral ventricles. [HPO:probinson]"} {"concept_id": "C4025726", "aliases": ["Abnormality of the pleura"], "types": ["T190"], "canonical_name": "Abnormal pleura morphology", "definition": "An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. [HPO:probinson]"} {"concept_id": "C4025727", "aliases": ["Upper respiratory tract issues", "Abnormality of the upper respiratory tract"], "types": ["T190"], "canonical_name": "Abnormality of the upper respiratory tract", "definition": "An abnormality of the upper respiratory tract. [HPO:probinson]"} {"concept_id": "C4025728", "aliases": [], "types": ["T033"], "canonical_name": "Increased neuronal autofluorescent lipopigment", "definition": "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. [HPO:probinson, PMID:11406682]"} {"concept_id": "C4025729", "aliases": [], "types": ["T047"], "canonical_name": "Neuromuscular dysphagia"} {"concept_id": "C4025730", "aliases": [], "types": ["T047"], "canonical_name": "Renal cortical atrophy", "definition": "Atrophy of the cortex of the kidney. [HPO:probinson]"} {"concept_id": "C4025731", "aliases": ["Abnormal blood clot", "Abnormal blood clotting"], "types": ["T190"], "canonical_name": "Abnormal thrombosis", "definition": "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). [HPO:probinson]"} {"concept_id": "C4025732", "aliases": ["Tubulointerstitial abnormality"], "types": ["T190"], "canonical_name": "Abnormal tubulointerstitial morphology", "definition": "An abnormality that involves the tubules and interstitial tissue of the kidney. [HPO:probinson]"} {"concept_id": "C4025733", "aliases": ["Abnormality of the glomerular mesangium", "Mesangial abnormality", "Abnormality glomerular mesangium morphology"], "types": ["T190"], "canonical_name": "Abnormal glomerular mesangium morphology", "definition": "An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. [HPO:probinson, PMID:19470685, PMID:20828589]"} {"concept_id": "C4025734", "aliases": ["Anomaly of scalp", "Abnormality of the scalp"], "types": ["T190"], "canonical_name": "Abnormal scalp morphology", "definition": "Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. [HPO:probinson]"} {"concept_id": "C4025735", "aliases": ["Nonspherocytic hemolytic anaemia"], "types": ["T047"], "canonical_name": "Nonspherocytic hemolytic anemia"} {"concept_id": "C4025739", "aliases": ["Acroosteolysis of distal phalanges of feet"], "types": ["T190"], "canonical_name": "Acroosteolysis of distal phalanges (feet)"} {"concept_id": "C4025740", "aliases": [], "types": ["T033"], "canonical_name": "Autoamputation of foot", "definition": "Spontaneous detachment of a foot from the body. [HPO:probinson]"} {"concept_id": "C4025741", "aliases": [], "types": ["T190"], "canonical_name": "Clinodactyly of the 5th toe", "definition": "Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). [HPO:probinson]"} {"concept_id": "C4025743", "aliases": [], "types": ["T019"], "canonical_name": "Distal foot symphalangism"} {"concept_id": "C4025744", "aliases": ["Acroosteolysis of feet"], "types": ["T046"], "canonical_name": "Foot acroosteolysis"} {"concept_id": "C4025745", "aliases": ["Abnormality of the long bone of foot"], "types": ["T190"], "canonical_name": "Abnormal metatarsal morphology", "definition": "Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). [HPO:probinson]"} {"concept_id": "C4025746", "aliases": [], "types": ["T190"], "canonical_name": "Genital tract atresia", "definition": "Congenital occlusion of a tube in the genital tract. [HPO:probinson]"} {"concept_id": "C4025747", "aliases": [], "types": ["T190"], "canonical_name": "Bulbous tips of toes", "definition": "An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous. [HPO:probinson]"} {"concept_id": "C4025748", "aliases": [], "types": ["T190"], "canonical_name": "Tarsal osteovalgus"} {"concept_id": "C4025749", "aliases": ["Abnormality of the spleen"], "types": ["T190"], "canonical_name": "Abnormality of the spleen", "definition": "An abnormality of the spleen. [HPO:probinson]"} {"concept_id": "C4025750", "aliases": ["Abnormality of the nasopharynx"], "types": ["T190"], "canonical_name": "Abnormal nasopharynx morphology", "definition": "A structural anomaly of the nasopharynx. []"} {"concept_id": "C4025751", "aliases": ["Abnormality of the pancreas"], "types": ["T190"], "canonical_name": "Abnormality of the pancreas", "definition": "An abnormality of the pancreas. [HPO:probinson]"} {"concept_id": "C4025752", "aliases": ["Abnormality of cardiac ventricle"], "types": ["T190"], "canonical_name": "Abnormal cardiac ventricle morphology", "definition": "An abnormality of a cardiac ventricle. [HPO:probinson]"} {"concept_id": "C4025753", "aliases": ["Abnormality of the tricuspid valve"], "types": ["T190"], "canonical_name": "Abnormal tricuspid valve morphology", "definition": "Any structural anomaly of the tricuspid valve. [HPO:probinson]"} {"concept_id": "C4025754", "aliases": ["Abnormality of the pericardium"], "types": ["T190"], "canonical_name": "Abnormal pericardium morphology", "definition": "An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. [HPO:probinson]"} {"concept_id": "C4025755", "aliases": [], "types": ["T046"], "canonical_name": "Primary atrial arrhythmia"} {"concept_id": "C4025756", "aliases": ["Abnormal aorta morphology", "Abnormality of the aorta"], "types": ["T190"], "canonical_name": "Abnormal aortic morphology", "definition": "An abnormality of the aorta. [HPO:probinson, PMID:24910511]"} {"concept_id": "C4025758", "aliases": ["Abnormality of the myocardium"], "types": ["T190"], "canonical_name": "Abnormal myocardium morphology", "definition": "A structural anomaly of the muscle layer of the heart wall. []"} {"concept_id": "C4025759", "aliases": ["Abnormality of the mitral valve"], "types": ["T190"], "canonical_name": "Abnormal mitral valve morphology", "definition": "Any structural anomaly of the mitral valve. [HPO:probinson]"} {"concept_id": "C4025760", "aliases": [], "types": ["T047"], "canonical_name": "Primary hypercortisolism", "definition": "Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol. [HPO:probinson]"} {"concept_id": "C4025761", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the integument", "definition": "An abnormality of the integument, which consists of the skin and the superficial fascia. [HPO:probinson]"} {"concept_id": "C4025762", "aliases": ["Abnormality of the ileum"], "types": ["T190"], "canonical_name": "Abnormal ileum morphology"} {"concept_id": "C4025763", "aliases": ["Abnormality of the rib cage"], "types": ["T190"], "canonical_name": "Abnormal rib cage morphology", "definition": "A morphological anomaly of the rib cage. [HPO:probinson]"} {"concept_id": "C4025764", "aliases": [], "types": ["T045"], "canonical_name": "Male-limited autosomal dominant"} {"concept_id": "C4025766", "aliases": ["Absent/underdeveloped pelvis muscles", "Absent/small pelvis muscles"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the musculature of the pelvis"} {"concept_id": "C4025767", "aliases": [], "types": ["T045"], "canonical_name": "Sex-limited autosomal dominant"} {"concept_id": "C4025768", "aliases": ["Abnormality of the musculature of the pelvis"], "types": ["T190"], "canonical_name": "Abnormal morphology of the pelvis musculature"} {"concept_id": "C4025769", "aliases": ["Absent/underdeveloped upper arm muscles", "Absent/small upper arm muscles"], "types": ["T019"], "canonical_name": "Aplasia/Hypoplasia involving the musculature of the upper arm", "definition": "Absence or underdevelopment of the muscles of the upper arm. [HPO:curators]"} {"concept_id": "C4025770", "aliases": ["Absent/underdeveloped upper limb muscles", "Absent/small upper limb muscles"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia involving the musculature of the upper limbs", "definition": "Absence or underdevelopment of the musculature of the upper limbs. [HPO:curators]"} {"concept_id": "C4025771", "aliases": ["Wasting of shoulder muscles", "Shoulder muscle degeneration"], "types": ["T047"], "canonical_name": "Amyotrophy involving the shoulder musculature"} {"concept_id": "C4025772", "aliases": ["Absent/small shoulder muscles", "Absent/underdeveloped shoulder muscles"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia involving the shoulder musculature", "definition": "Absence or underdevelopment of the muscles of the shoulder. [HPO:curators]"} {"concept_id": "C4025773", "aliases": ["Absent/underdeveloped skeletal muscles", "Absent/small skeletal muscles"], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia involving the skeletal musculature", "definition": "Absence or underdevelopment of the musculature. [HPO:curators]"} {"concept_id": "C4025774", "aliases": ["Webbed 1st-3rd toes"], "types": ["T019"], "canonical_name": "1-3 toe syndactyly", "definition": "Syndactyly with fusion of toes one to three. [HPO:sdoelken]"} {"concept_id": "C4025775", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the musculature of the upper arm"} {"concept_id": "C4025776", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the upper arm"} {"concept_id": "C4025777", "aliases": [], "types": ["T047"], "canonical_name": "Autosomal dominant contiguous gene syndrome"} {"concept_id": "C4025778", "aliases": ["Duplication of long bones of foot"], "types": ["T019"], "canonical_name": "Duplication of metatarsal bones"} {"concept_id": "C4025779", "aliases": ["Abnormal upper limb muscles"], "types": ["T190"], "canonical_name": "Abnormality of the musculature of the upper limbs"} {"concept_id": "C4025780", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the hip-girdle musculature"} {"concept_id": "C4025781", "aliases": [], "types": ["T045"], "canonical_name": "Autosomal dominant somatic cell mutation", "definition": "Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body. []"} {"concept_id": "C4025782", "aliases": ["Abnormality of glutes"], "types": ["T190"], "canonical_name": "Abnormality of the gluteal musculature"} {"concept_id": "C4025783", "aliases": ["Abnormal thigh muscles"], "types": ["T190"], "canonical_name": "Abnormality of the musculature of the thigh"} {"concept_id": "C4025784", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the musculature of the lower limbs"} {"concept_id": "C4025785", "aliases": ["Abnormal foot muscles"], "types": ["T190"], "canonical_name": "Abnormality of the foot musculature", "definition": "An anomaly of the musculature of foot. [HPO:probinson]"} {"concept_id": "C4025786", "aliases": ["Abnormal hand muscles"], "types": ["T190"], "canonical_name": "Abnormality of the musculature of the hand"} {"concept_id": "C4025787", "aliases": ["Skull defect", "Cranial defect"], "types": ["T190"], "canonical_name": "Calvarial skull defect", "definition": "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. [HPO:probinson]"} {"concept_id": "C4025788", "aliases": [], "types": ["T047"], "canonical_name": "Nystagmus-induced head nodding", "definition": "Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision. [HPO:probinson]"} {"concept_id": "C4025789", "aliases": [], "types": ["T048"], "canonical_name": "Psychotic mentation"} {"concept_id": "C4025790", "aliases": [], "types": ["T048"], "definition": "Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. [HPO:probinson]", "canonical_name": "Specific learning disability"} {"concept_id": "C4025791", "aliases": ["Photically induced myoclonic seizure", "Photomyoclonic seizures", "Photomyoclonic seizure"], "types": ["T047"], "canonical_name": "Photosensitive myoclonic seizure", "definition": "Generalised myoclonic seizure provoked by flashing or flickering light. [PMID:28276060]"} {"concept_id": "C4025792", "aliases": ["EEG with irregular generalised spike and wave complexes"], "types": ["T033"], "canonical_name": "EEG with irregular generalized spike and wave complexes", "definition": "EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency. [HPO:jalbers]"} {"concept_id": "C4025794", "aliases": [], "types": ["T047"], "canonical_name": "Chronic sensorineural polyneuropathy"} {"concept_id": "C4025795", "aliases": ["Shortened short tubular bones of the hand"], "types": ["T190"], "canonical_name": "Short tubular bones of the hand", "definition": "Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. [HPO:probinson]"} {"concept_id": "C4025796", "aliases": ["Abnormality of the fingertips"], "types": ["T190"], "canonical_name": "Abnormal fingertip morphology", "definition": "An abnormal structure of the tip (end) of a finger. []"} {"concept_id": "C4025797", "aliases": ["Abnormality of prenatal development or birth"], "types": ["T033"], "canonical_name": "Abnormality of prenatal development or birth", "definition": "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. [HPO:probinson]"} {"concept_id": "C4025798", "aliases": ["Abnormalities of placenta or umbilical cord"], "types": ["T190"], "canonical_name": "Abnormalities of placenta or umbilical cord", "definition": "An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta). [HPO:curators]"} {"concept_id": "C4025799", "aliases": [], "types": ["T019"], "canonical_name": "Ulnar claw", "definition": "An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm. [HPO:probinson]"} {"concept_id": "C4025800", "aliases": ["Large central loss of field of vision"], "types": ["T033"], "canonical_name": "Large central visual field defect"} {"concept_id": "C4025802", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of corneal size", "definition": "Any abnormality of the size or morphology of the cornea. [HPO:curators]"} {"concept_id": "C4025803", "aliases": [], "types": ["T033"], "canonical_name": "Sudden central visual loss"} {"concept_id": "C4025804", "aliases": ["Abnormality of the fundus"], "types": ["T190"], "canonical_name": "Abnormal fundus morphology", "definition": "Any structural abnormality of the fundus of the eye. []"} {"concept_id": "C4025805", "aliases": ["Intermittent icterus", "Intermittent yellowing of skin", "Intermittent yellow skin"], "types": ["T046"], "canonical_name": "Intermittent jaundice", "definition": "Jaundice that is sometimes present, sometimes not. [HPO:curators]"} {"concept_id": "C4025806", "aliases": [], "types": ["T190"], "canonical_name": "High axial triradius"} {"concept_id": "C4025807", "aliases": [], "types": ["T047"], "canonical_name": "Atheroeruptive xanthoma"} {"concept_id": "C4025808", "aliases": ["Facial flushing after alcohol intake"], "types": ["T033"], "canonical_name": "Facial flushing after alcohol intake"} {"concept_id": "C4025809", "aliases": ["Penetrating foot ulcers"], "types": ["T047"], "canonical_name": "Penetrating foot ulcers"} {"concept_id": "C4025810", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal palmar dermatoglyphics", "definition": "An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. [HPO:probinson]"} {"concept_id": "C4025811", "aliases": ["Anaemic pallor"], "types": ["T184"], "canonical_name": "Anemic pallor", "definition": "A type of pallor that is secondary to the presence of anemia. [HPO:probinson]"} {"concept_id": "C4025812", "aliases": [], "types": ["T033"], "canonical_name": "Dermatological manifestations of systemic disorders"} {"concept_id": "C4025813", "aliases": ["Abnormality of fatty tissue below the skin"], "types": ["T190"], "canonical_name": "Abnormality of subcutaneous fat tissue"} {"concept_id": "C4025814", "aliases": ["Abnormality of the wide portion of a long bone"], "types": ["T190"], "canonical_name": "Abnormality of the metaphysis", "definition": "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. [HPO:probinson]"} {"concept_id": "C4025815", "aliases": ["Short shaft of long bone"], "types": ["T190"], "canonical_name": "Short diaphyses"} {"concept_id": "C4025816", "aliases": [], "types": ["T033"], "canonical_name": "Posterior fossa cyst at the fourth ventricle"} {"concept_id": "C4025817", "aliases": ["Elevated imprint of occipital bone over the transverse sinuses", "Thinning and bulging of posterior skull bones over the transverse sinuses", "Elevated imprint of posterior skull bones over the transverse sinuses", "Thinning and bulging of occipital bone over the transverse sinuses"], "types": ["T033"], "canonical_name": "Elevated imprint of the transverse sinuses"} {"concept_id": "C4025818", "aliases": ["Abnormality of skeletal maturation"], "types": ["T190"], "canonical_name": "Abnormality of skeletal maturation", "definition": "The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. [HPO:probinson]"} {"concept_id": "C4025819", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the hypothalamus-pituitary axis", "definition": "Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. [DDD:spark]"} {"concept_id": "C4025820", "aliases": [], "types": ["T190"], "canonical_name": "Adrenocortical abnormality"} {"concept_id": "C4025821", "aliases": [], "types": ["T047"], "canonical_name": "Anterior hypopituitarism", "definition": "A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. [HPO:probinson]"} {"concept_id": "C4025822", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the parathyroid gland", "definition": "An abnormality of the parathyroid gland. [HPO:curators]"} {"concept_id": "C4025823", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the endocrine system", "definition": "An abnormality of the endocrine system. [HPO:probinson]"} {"concept_id": "C4025824", "aliases": ["Abnormal internal genitalia"], "types": ["T190"], "canonical_name": "Abnormal internal genitalia", "definition": "An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). [HPO:probinson]"} {"concept_id": "C4025825", "aliases": ["Abnormal external genitalia"], "types": ["T190"], "canonical_name": "Abnormal external genitalia"} {"concept_id": "C4025826", "aliases": ["Urethra issue"], "types": ["T190"], "canonical_name": "Abnormality of the urethra", "definition": "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. [HPO:probinson]"} {"concept_id": "C4025827", "aliases": [], "types": ["T033"], "canonical_name": "IgA deposition in the glomerulus", "definition": "The presence of immunoglobulin A deposits in the glomerulus. [Eurenomics:ewuehl]"} {"concept_id": "C4025828", "aliases": ["Abnormality of the shoulder blade"], "types": ["T190"], "canonical_name": "Abnormal scapula morphology", "definition": "Any abnormality of the scapula, also known as the shoulder blade. [HPO:probinson]"} {"concept_id": "C4025829", "aliases": ["Abnormality of the breast"], "types": ["T190"], "canonical_name": "Abnormality of the breast", "definition": "An abnormality of the breast. [HPO:probinson]"} {"concept_id": "C4025830", "aliases": [], "types": ["T033"], "canonical_name": "Peripheral axonal degeneration", "definition": "Progressive deterioration of peripheral axons. [HPO:probinson]"} {"concept_id": "C4025831", "aliases": ["Abnormal peripheral nervous system structure"], "types": ["T190"], "canonical_name": "Abnormal peripheral nervous system morphology", "definition": "A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). [HPO:probinson]"} {"concept_id": "C4025832", "aliases": [], "types": ["T048"], "canonical_name": "Autism with high cognitive abilities"} {"concept_id": "C4025833", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the incisor", "definition": "An abnormality of the Incisor tooth. [HPO:probinson]"} {"concept_id": "C4025834", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal amplitude of pattern reversal visual evoked potentials"} {"concept_id": "C4025835", "aliases": ["Abnormality of the nasolacrimal system"], "types": ["T190"], "canonical_name": "Abnormal nasolacrimal system morphology", "definition": "An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity. [DDD:ncarter]"} {"concept_id": "C4025836", "aliases": ["Abnormality of the choroid"], "types": ["T190"], "canonical_name": "Abnormal choroid morphology", "definition": "Any structural abnormality of the choroid. [HPO:probinson]"} {"concept_id": "C4025837", "aliases": ["Abnormality of the region around the eye", "Malformation of the periorbital region", "Deformity of the periorbital region", "Abnormality of the region around the eye socket", "Anomaly of the periorbital region"], "types": ["T190"], "canonical_name": "Abnormality of the periorbital region", "definition": "An abnormality of the region situated around the orbit of the eye. [HPO:probinson]"} {"concept_id": "C4025838", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the pharynx", "definition": "An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. [HPO:probinson]"} {"concept_id": "C4025839", "aliases": ["Abnormality of hairline at front of head", "Abnormality of the frontal hairline"], "types": ["T190"], "canonical_name": "Abnormality of the frontal hairline", "definition": "An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. [HPO:probinson]"} {"concept_id": "C4025840", "aliases": ["Abnormality of the outer white part of eyeball", "Abnormality of the sclera"], "types": ["T190"], "canonical_name": "Abnormal sclera morphology", "definition": "An abnormality of the sclera. [HPO:probinson]"} {"concept_id": "C4025842", "aliases": ["Abnormality of the uvea"], "types": ["T190"], "canonical_name": "Abnormal uvea morphology", "definition": "An abnormality of the uvea, the vascular layer of the eyeball. [HPO:probinson]"} {"concept_id": "C4025843", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of refraction", "definition": "An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. [HPO:probinson]"} {"concept_id": "C4025844", "aliases": ["Chorioretinal abnormality"], "types": ["T190"], "canonical_name": "Abnormal chorioretinal morphology", "definition": "An abnormality of the choroid and retina. [HPO:probinson]"} {"concept_id": "C4025845", "aliases": ["Abnormality of the iris"], "types": ["T190"], "canonical_name": "Abnormality iris morphology", "definition": "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. [HPO:probinson]"} {"concept_id": "C4025846", "aliases": ["Vision issue", "Abnormality of vision", "Abnormality of sight"], "types": ["T033"], "canonical_name": "Abnormality of vision", "definition": "Abnormality of eyesight (visual perception). [HPO:probinson]"} {"concept_id": "C4025847", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal conjunctiva morphology", "definition": "An abnormality of the conjunctiva. [HPO:curators]"} {"concept_id": "C4025848", "aliases": [], "types": ["T033"], "canonical_name": "Globe retraction and deviation on abduction"} {"concept_id": "C4025849", "aliases": ["Abnormality of the fovea"], "types": ["T190"], "canonical_name": "Abnormal foveal morphology", "definition": "An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina. [HPO:probinson]"} {"concept_id": "C4025850", "aliases": ["Increased fat around the neck"], "types": ["T033"], "canonical_name": "Increased adipose tissue around the neck", "definition": "An increased amount of subcutaneous fat tissue around the neck. [HPO:probinson]"} {"concept_id": "C4025852", "aliases": ["Malformation of the nasal tip", "Deformity of the nasal tip", "Abnormality of tip of nose", "Abnormality of the nasal tip", "Deformity of tip of nose", "Malformation of tip of nose"], "types": ["T190"], "canonical_name": "Abnormality of the nasal tip", "definition": "An abnormality of the nasal tip. [HPO:probinson, PMID:19152422]"} {"concept_id": "C4025853", "aliases": ["Angioectasia of nasal mucous membrane", "Spider veins of nasal mucous membrane", "Spider veins of mucous membrane of nose", "Telangiectasia of mucous membrane of nose", "Telangiectasia of nasal mucous membrane", "Angioectasia of mucosa of nose", "Angioectasia of mucous membrane of nose", "Nasal mucous membrane telangiectasia", "Telangiectasia of mucosa of nose", "Spider veins of mucosa of nose"], "types": ["T033"], "canonical_name": "Nasal mucosa telangiectasia", "definition": "Telangiectasia of the nasal mucosa. [HPO:probinson]"} {"concept_id": "C4025854", "aliases": ["Abnormality of mucous membrane of nose", "Abnormality of the nasal mucosa", "Abnormality of nasal mucous membrane", "Abnormality of mucosa of nose"], "types": ["T190"], "canonical_name": "Abnormal nasal mucosa morphology"} {"concept_id": "C4025855", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the choanae", "definition": "Abnormality of the choanae (the posterior nasal apertures). [HPO:probinson]"} {"concept_id": "C4025856", "aliases": ["Deformity of the periauricular region", "Anomaly of the periauricular region", "Malformation of the periauricular region", "Abnormality of the region around the ear"], "types": ["T190"], "canonical_name": "Abnormality of periauricular region"} {"concept_id": "C4025857", "aliases": [], "types": ["T033"], "canonical_name": "Incomplete partition of the cochlea type II", "definition": "IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation. [HPO:probinson, PMID:21849370]"} {"concept_id": "C4025858", "aliases": ["Abnormality of cochlea"], "types": ["T190"], "canonical_name": "Abnormal cochlea morphology", "definition": "An abnormality of the cochlea. [HPO:probinson]"} {"concept_id": "C4025860", "aliases": ["Hearing abnormality", "Abnormal hearing"], "types": ["T033"], "canonical_name": "Hearing abnormality", "definition": "An abnormality of the sensory perception of sound. [HPO:probinson]"} {"concept_id": "C4025862", "aliases": ["Malformation of the upper jaw bones", "Anomaly of the maxilla", "Deformity of the upper jaw bones", "Deformity of the maxilla", "Abnormality of the upper jaw bone", "Abnormality of the upper jaw bones", "Malformation of the maxilla"], "types": ["T190"], "canonical_name": "Abnormality of the maxilla", "definition": "An abnormality of the Maxilla (upper jaw bone). [HPO:probinson]"} {"concept_id": "C4025863", "aliases": ["Malformation of the orbital region of the face", "Anomaly of the orbital region of the face", "Abnormality of the region around the eyes", "Deformity of the orbital region of the face", "Abnormality of the eye region"], "types": ["T190"], "canonical_name": "Abnormality of the orbital region"} {"concept_id": "C4025864", "aliases": ["Malformation of the chin", "Anomaly of the chin", "Abnormality of the chin", "Abnormality of the menton", "Deformity of the chin"], "types": ["T190"], "canonical_name": "Abnormality of the chin", "definition": "An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. [HPO:probinson, PMID:19125436]"} {"concept_id": "C4025865", "aliases": ["Abnormality of facial muscles", "Facial muscle issue"], "types": ["T190"], "canonical_name": "Abnormality of facial musculature", "definition": "An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). [HPO:probinson]"} {"concept_id": "C4025866", "aliases": ["Abnormality of facial fat", "Deformity of facial adipose tissue", "Malformation of facial adipose tissue"], "types": ["T190"], "canonical_name": "Abnormality of facial adipose tissue"} {"concept_id": "C4025867", "aliases": ["Malformation of the forehead", "Abnormality of the forehead", "Anomaly of the forehead", "Abnormality of the frontal region of the face", "Deformity of the forehead"], "types": ["T190"], "canonical_name": "Abnormality of the forehead", "definition": "An anomaly of the forehead. [HPO:probinson]"} {"concept_id": "C4025868", "aliases": ["Increased amount of facial fat", "Increased volume of facial adipose tissue", "Increased amount of facial adipose tissue"], "types": ["T033"], "canonical_name": "Increased facial adipose tissue", "definition": "An increased amount of subcutaneous fat tissue in the face. [HPO:probinson]"} {"concept_id": "C4025870", "aliases": ["Malformation of the mandible", "Deformity of the mandible", "Abnormality of the mandible", "Malformation of the lower jaw bone", "Deformity of the lower jaw bone", "Abnormality of the lower jaw bone", "Anomaly of the mandible"], "types": ["T190"], "canonical_name": "Abnormal mandible morphology", "definition": "Any abnormality of the mandible, the bone of the lower jaw. [HPO:probinson]"} {"concept_id": "C4025871", "aliases": ["Abnormality of the face", "Abnormality of the physiognomy", "Abnormality of the countenance", "Facial abnormality", "Anomaly of face", "Abnormality of the visage", "Facial anomaly", "Abnormal face"], "types": ["T190"], "canonical_name": "Abnormality of the face", "definition": "An abnormality of the face. [HPO:probinson]"} {"concept_id": "C4025872", "aliases": ["Abnormality of mastoid process of temporal bone"], "types": ["T190"], "canonical_name": "Abnormality of the mastoid", "definition": "An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. [HPO:pnrobinson]"} {"concept_id": "C4025873", "aliases": ["Abnormality of the sinuses of the head", "Abnormality of the paranasal sinuses", "Abnormality of the sinuses"], "types": ["T190"], "canonical_name": "Abnormal paranasal sinus morphology", "definition": "Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. [HPO:probinson]"} {"concept_id": "C4025874", "aliases": ["Abnormality of cranium size", "Abnormality of head size", "Abnormality of skull size"], "types": ["T190"], "canonical_name": "Abnormality of skull size", "definition": "Any abnormality of the size of the skull. [HPO:curators]"} {"concept_id": "C4025875", "aliases": ["Abnormality of the forehead soft spot"], "types": ["T190"], "canonical_name": "Abnormality of the anterior fontanelle", "definition": "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. [HPO:curators]"} {"concept_id": "C4025876", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the fontanelles or cranial sutures", "definition": "Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). [HPO:probinson, PMID:12825844]"} {"concept_id": "C4025877", "aliases": ["Oral cavity teleangiectasia", "Angioectasias of the mouth", "Angioectasias of the oral cavity"], "types": ["T033"], "canonical_name": "Oral cavity telangiectasia", "definition": "Presence of telangiectases in the oral cavity. [HPO:probinson]"} {"concept_id": "C4025878", "aliases": ["Lingual telangiectasia"], "types": ["T190"], "canonical_name": "Tongue telangiectasia", "definition": "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. [HPO:probinson]"} {"concept_id": "C4025879", "aliases": ["Abnormality of taste sensation"], "types": ["T033"], "canonical_name": "Abnormality of taste sensation"} {"concept_id": "C4025880", "aliases": ["Abnormality of parotid gland", "Anomaly of the parotid gland"], "types": ["T190"], "canonical_name": "Abnormal parotid gland morphology", "definition": "Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. [HPO:curators]"} {"concept_id": "C4025881", "aliases": ["Abnormality of lingual frenum", "Abnormality of oral frenula", "Abnormality of frenum of tongue", "Abnormality of oral frenum"], "types": ["T190"], "canonical_name": "Abnormal oral frenulum morphology", "definition": "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. [HPO:probinson, PMID:23633765]"} {"concept_id": "C4025882", "aliases": ["Abnormality of lingual movement", "Movement abnormality of the tongue"], "types": ["T033"], "canonical_name": "Movement abnormality of the tongue"} {"concept_id": "C4025883", "aliases": ["Deformity of the lower lip", "Malformation of the lower lip", "Anomaly of the lower lip", "Abnormality of lower lip"], "types": ["T190"], "canonical_name": "Abnormality of lower lip", "definition": "An abnormality of the lower lip. [HPO:probinson]"} {"concept_id": "C4025884", "aliases": ["Anomaly of the upper lip", "Malformation of the upper lip", "Deformity of the upper lip", "Abnormality of upper lip"], "types": ["T190"], "canonical_name": "Abnormality of upper lip", "definition": "An abnormality of the upper lip. [HPO:probinson]"} {"concept_id": "C4025885", "aliases": ["Abnormality of the uvula", "Abnormality of palatine uvula"], "types": ["T190"], "canonical_name": "Abnormal uvula morphology", "definition": "Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. [HPO:probinson]"} {"concept_id": "C4025886", "aliases": ["Severe gum disease", "Severe pyorrhea", "Severe periodontal disease"], "types": ["T047"], "canonical_name": "Severe periodontitis", "definition": "A severe form of periodontitis. [HPO:probinson]"} {"concept_id": "C4025887", "aliases": ["Abnormality of the oral cavity"], "types": ["T190"], "canonical_name": "Abnormal oral cavity morphology", "definition": "Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. [HPO:probinson]"} {"concept_id": "C4025888", "aliases": ["Abnormality of the menstrual cycle"], "types": ["T033"], "canonical_name": "Abnormality of the menstrual cycle", "definition": "An abnormality of the ovulation cycle. [HPO:probinson, PMID:23281358]"} {"concept_id": "C4025889", "aliases": ["Morphologic abnormality of the renal glomerulus", "Abnormality of renal glomerulus morphology"], "types": ["T190"], "canonical_name": "Abnormal renal glomerulus morphology", "definition": "A structural anomaly of the glomerulus. [Eurenomics:ewuehl, PMID:18184729]"} {"concept_id": "C4025890", "aliases": [], "types": ["T019"], "canonical_name": "Urethral atresia, female", "definition": "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females. [HPO:probinson]"} {"concept_id": "C4025891", "aliases": ["Atypical appearance of female genitals"], "types": ["T019"], "canonical_name": "Ambiguous genitalia, female", "definition": "Ambiguous genitalia in an individual with XX genetic gender. [HPO:probinson]"} {"concept_id": "C4025892", "aliases": ["Abnormality of the labia"], "types": ["T190"], "canonical_name": "Abnormal labia morphology", "definition": "An anomaly of the labia, the externally visible portions of the vulva. [HPO:probinson]"} {"concept_id": "C4025893", "aliases": ["Abnormality of the clit"], "types": ["T190"], "canonical_name": "Abnormality of the clitoris", "definition": "An abnormality of the clitoris. [HPO:probinson]"} {"concept_id": "C4025894", "aliases": [], "types": ["T019"], "canonical_name": "Urethral atresia, male", "definition": "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males. [HPO:probinson]"} {"concept_id": "C4025895", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the scrotum"} {"concept_id": "C4025896", "aliases": ["Abnormality of the penis"], "types": ["T190"], "canonical_name": "Abnormal penis morphology", "definition": "Abnormality of the male external sex organ. []"} {"concept_id": "C4025897", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of male external genitalia", "definition": "An abnormality of male external genitalia. [HPO:probinson]"} {"concept_id": "C4025898", "aliases": [], "types": ["T190"], "canonical_name": "Functional abnormality of male internal genitalia"} {"concept_id": "C4025899", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of male internal genitalia", "definition": "An abnormality of the male internal genitalia. [HPO:probinson]"} {"concept_id": "C4025900", "aliases": ["Abnormality of female internal genitalia"], "types": ["T190"], "canonical_name": "Abnormal morphology of female internal genitalia", "definition": "An abnormality of the female internal genitalia. [HPO:probinson]"} {"concept_id": "C4025901", "aliases": ["Abnormality of body height"], "types": ["T033"], "canonical_name": "Abnormality of body height", "definition": "Deviation from the norm of height with respect to that which is expected according to age and gender norms. [HPO:probinson]"} {"concept_id": "C4029280", "aliases": [], "types": ["T033"], "canonical_name": "Hypotonic facies"} {"concept_id": "C4038738", "aliases": ["Obtuse angle of mandible", "High mandibular plane angle"], "types": ["T033"], "definition": "Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal. [HPO:probinson]", "canonical_name": "Steep mandibular plane angle"} {"concept_id": "C4039246", "aliases": ["Status post hematopoietic stem cell transplantation", "History of bone marrow transplant"], "types": ["T033"], "definition": "A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor. [PMID:24198516]", "canonical_name": "Status post haematopoietic stem cell transplantation"} {"concept_id": "C4048199", "aliases": [], "types": ["T033"], "canonical_name": "Ulnar deviation of the hand or of fingers of the hand"} {"concept_id": "C4048268", "aliases": ["Cerebral visual impairment", "Cortical blindness"], "types": ["T046"], "definition": "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. [HPO:probinson, PMID:28082927]", "canonical_name": "Cortical visual impairment"} {"concept_id": "C4048270", "aliases": ["Immunoglobulin deficiency", "Decreased antibody level in blood", "Reduced immunoglobulin levels", "Decreased immunoglobulin level", "Decreased serum immunoglobulin"], "types": ["T033"], "definition": "An abnormally decreased level of immunoglobulin in blood. [HPO:probinson]", "canonical_name": "Decreased circulating antibody level"} {"concept_id": "C4048273", "aliases": ["Chorioretinal thinning"], "types": ["T047"], "definition": "Atrophy of the choroid and retinal layers of the fundus. [HPO:probinson, PMID:20224472]", "canonical_name": "Chorioretinal atrophy"} {"concept_id": "C4048328", "aliases": [], "types": ["T191"], "definition": "The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cervical cancer is caused by a virus called HPV. The virus spreads through sexual contact. Most women's bodies are able to fight HPV infection. But sometimes the virus leads to cancer. You're at higher risk if you smoke, have had many children, use birth control pills for a long time, or have HIV infection.
Cervical cancer may not cause any symptoms at first. Later, you may have pelvic pain or bleeding from the vagina. It usually takes several years for normal cells in the cervix to turn into cancer cells. Your health care provider can find abnormal cells by doing a Pap test to examine cells from the cervix. You may also have an HPV test. If your results are abnormal, you may need a biopsy or other tests. By getting regular screenings, you can find and treat any problems before they turn into cancer.
Treatment may include surgery, radiation therapy, chemotherapy, or a combination. The choice of treatment depends on the size of the tumor, whether the cancer has spread and whether you would like to become pregnant someday.
Vaccines can protect against several types of HPV, including some that can cause cancer.
NIH: National Cancer Institute
", "canonical_name": "Cervix cancer"} {"concept_id": "C4048705", "aliases": ["Increased methionine in blood", "Methioninemia"], "types": ["T047"], "definition": "An increased concentration of methionine in the blood. [HPO:gcarletti]", "canonical_name": "Hypermethioninemia"} {"concept_id": "C4048750", "aliases": [], "types": ["T047"], "definition": "Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum. [HPO:probinson]", "canonical_name": "Sphincter of Oddi dyskinesia"} {"concept_id": "C4048798", "aliases": ["Night blindness, congenital stationary, complete"], "types": ["T019"], "canonical_name": "Complete congenital stationary night blindness"} {"concept_id": "C4048801", "aliases": ["Defect of scalp"], "types": ["T019"], "canonical_name": "Scalp defect"} {"concept_id": "C4048833", "aliases": ["Devil ear"], "types": ["T190"], "canonical_name": "Satyr ear", "definition": "Sharp pointed superior portion of the ear, with variable overfolding of the helix. [PMID:19152421]"} {"concept_id": "C4049066", "aliases": [], "types": ["T047"], "canonical_name": "Retinal dystrophy with early macular involvement"} {"concept_id": "C4049276", "aliases": [], "types": ["T033"], "definition": "Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole. [PMID:22847594]", "canonical_name": "Systolic anterior motion of the mitral valve"} {"concept_id": "C4049282", "aliases": ["Pseudocroup", "Spasmodic croup", "Viral croup", "Croup", "Laryngitis"], "types": ["T047"], "definition": "Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure. [LMU:mgriese, PMID:31680234]", "canonical_name": "Subglottic laryngitis"} {"concept_id": "C4049312", "aliases": [], "types": ["T047"], "definition": "Ulceration of the AORTA by an ATHEROSCLEROTIC PLAQUE by penetrating through and disrupting the internal elastic lamina of the TUNICA INTIMA.", "canonical_name": "Penetrating aortic ulcer"} {"concept_id": "C4049342", "aliases": ["Foot bone infection"], "types": ["T047"], "canonical_name": "Foot osteomyelitis", "definition": "An infection of bone of the foot. []"} {"concept_id": "C4049592", "aliases": [], "types": ["T047"], "canonical_name": "Saccular abdominal aortic aneurysm", "definition": "An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall. []"} {"concept_id": "C4049796", "aliases": ["Abnormality of cardiovascular system morphology"], "types": ["T019"], "definition": "Any structural anomaly of the heart and great vessels. []", "canonical_name": "Cardiovascular malformations"} {"concept_id": "C4053870", "aliases": [], "types": ["T033"], "canonical_name": "Very preterm birth", "definition": "Birth when a fetus is between 28 weeks and less than 32 weeks gestational age."} {"concept_id": "C4053953", "aliases": ["Class VI lupus nephritis"], "types": ["T047"], "canonical_name": "Advanced sclerotic lupus nephritis", "definition": "Systemic lupus erythematosus nephritis, with 90% or more of glomeruli globally sclerosed without residual activity. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)"} {"concept_id": "C4053954", "aliases": ["Class I lupus nephritis"], "types": ["T047"], "canonical_name": "Minimal mesangial lupus nephritis", "definition": "Systemic lupus erythematosus nephritis that appears normal under light microscopy, but with evidence of immune deposits by immunofluorescence. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)"} {"concept_id": "C4053955", "aliases": ["Class IV lupus nephritis"], "types": ["T047"], "canonical_name": "Diffuse lupus nephritis", "definition": "Systemic lupus erythematosus nephritis, with active or inactive diffuse, segmental or global endo- or extracapillary glomerulonephritis involving greater than or equal to 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)"} {"concept_id": "C4053958", "aliases": ["Class II lupus nephritis"], "types": ["T047"], "canonical_name": "Mesangial proliferative lupus nephritis", "definition": "Systemic lupus erythematosus nephritis exhibiting mesangial hypercellularity or mesangial expansion by light microscopy, with mesangial immune deposits. Isolated subepithelial or subendothelial deposits may be visible by immunofluorescence or electron microscopy, but not by light microscopy. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)"} {"concept_id": "C4053959", "aliases": ["Class III lupus nephritis"], "types": ["T047"], "canonical_name": "Focal lupus nephritis", "definition": "Systemic lupus erythematosus nephritis with active of inactive focal, segmental or global endo- or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)"} {"concept_id": "C4054482", "aliases": [], "types": ["T033"], "canonical_name": "Moderate to late preterm birth", "definition": "Birth when a fetus is between 32 weeks and less than 37 weeks gestational age."} {"concept_id": "C4054531", "aliases": [], "types": ["T046"], "canonical_name": "Mesangiolysis", "definition": "A process characterized by the degeneration of mesangial cells and the dissolution of the mesangial matrix in the glomerulus of the kidney, in response to injury or disease."} {"concept_id": "C4054543", "aliases": ["Class V lupus nephritis"], "types": ["T047"], "canonical_name": "Membranous lupus nephritis", "definition": "Membranous nephritis associated with systemic lupus erythematosus."} {"concept_id": "C4064341", "aliases": [], "types": ["T048"], "canonical_name": "Persistent preoccupation with parts of objects", "definition": "A type of abnormal interest characterized by a persistent and intense focus in parts of a toy/object. For examples, affected individuals may spin the wheels on a toy car rather than driving the toy car. [ORCID:0000-0002-4422-1708, PMID:25030967]"} {"concept_id": "C4064943", "aliases": [], "types": ["T033"], "canonical_name": "Idiosyncratic language", "definition": "Inappropriate use of words that have no phonological or semantic similarity to the intended word. [ORCID:0000-0002-4422-1708, PMID:1864825]"} {"concept_id": "C4068931", "aliases": [], "types": ["T033"], "canonical_name": "Hypodeviation", "definition": "A type of strabismus in which the visual axis of one eye is lower than that of the other. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4068932", "aliases": [], "types": ["T047"], "canonical_name": "Hyperdeviation", "definition": "A type of strabismus in which the visual axis of one eye is higher than that of the other. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4072820", "aliases": [], "types": ["T033"], "canonical_name": "Large bregma sutures"} {"concept_id": "C4072821", "aliases": [], "types": ["T033"], "canonical_name": "Large, late-closing fontanelle"} {"concept_id": "C4072822", "aliases": [], "types": ["T033"], "canonical_name": "Wide bregma sutures"} {"concept_id": "C4072823", "aliases": ["Broad head shape", "Broad skull shape", "Wide head shape", "Wide cranium shape"], "types": ["T033"], "canonical_name": "Broad cranium shape"} {"concept_id": "C4072824", "aliases": [], "types": ["T033"], "canonical_name": "Wide skull shape"} {"concept_id": "C4072825", "aliases": [], "types": ["T033"], "canonical_name": "Thickened facial skin with coarse facial features"} {"concept_id": "C4072826", "aliases": [], "types": ["T033"], "canonical_name": "Skin tag on the posterior cheek"} {"concept_id": "C4072828", "aliases": [], "types": ["T033"], "canonical_name": "Sudden loss of visual acuity", "definition": "Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. [HPO:probinson]"} {"concept_id": "C4072830", "aliases": ["Asymmetry of the posterior skull", "Asymmetry of the posterior head"], "types": ["T033"], "canonical_name": "Asymmetry of the posterior cranium"} {"concept_id": "C4072831", "aliases": ["Late closure of soft spot on the skull"], "types": ["T033"], "canonical_name": "Delayed closure of the soft spot on the skull"} {"concept_id": "C4072832", "aliases": [], "types": ["T033"], "canonical_name": "Distortion of face"} {"concept_id": "C4072833", "aliases": [], "types": ["T033"], "canonical_name": "Funny looking face"} {"concept_id": "C4072834", "aliases": [], "types": ["T033"], "canonical_name": "Rough hair texture"} {"concept_id": "C4072835", "aliases": [], "types": ["T033"], "canonical_name": "Kinky hair texture"} {"concept_id": "C4072836", "aliases": [], "types": ["T033"], "canonical_name": "Nappy hair texture"} {"concept_id": "C4072837", "aliases": [], "types": ["T033"], "canonical_name": "Fractured hair"} {"concept_id": "C4072838", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplasia of foramen magnum"} {"concept_id": "C4072839", "aliases": ["Anomaly of the hypophysial fossa", "Anomaly of the pituitary fossa", "Abnormality of the pituitary fossa"], "types": ["T190"], "canonical_name": "Abnormality of the hypophysial fossa"} {"concept_id": "C4072841", "aliases": ["J-shaped pituitary fossa"], "types": ["T033"], "canonical_name": "J-shaped hypophysial fossa"} {"concept_id": "C4072842", "aliases": ["Omega shaped pituitary fossa"], "types": ["T190"], "canonical_name": "Omega shaped hypophysial fossa"} {"concept_id": "C4072844", "aliases": [], "types": ["T033"], "canonical_name": "Missing sinuses"} {"concept_id": "C4072845", "aliases": ["Hyperplasia of pituitary fossa"], "types": ["T033"], "canonical_name": "Hyperplasia of hypophysial fossa"} {"concept_id": "C4072846", "aliases": ["Large pituitary fossa"], "types": ["T033"], "canonical_name": "Large hypophysial fossa"} {"concept_id": "C4072847", "aliases": [], "types": ["T033"], "canonical_name": "HyperCalcification of skull base"} {"concept_id": "C4072848", "aliases": [], "types": ["T033"], "canonical_name": "HyperMineralization of skull base"} {"concept_id": "C4072849", "aliases": [], "types": ["T033"], "canonical_name": "Scapular weakness"} {"concept_id": "C4072850", "aliases": [], "types": ["T033"], "canonical_name": "Increased calcification of skull"} {"concept_id": "C4072851", "aliases": [], "types": ["T033"], "canonical_name": "Increased Mineralization of skull"} {"concept_id": "C4072853", "aliases": ["Premature closure of the bregma sutures"], "types": ["T033"], "canonical_name": "Early closure of the bregma sutures"} {"concept_id": "C4072854", "aliases": ["Small cranial sutures"], "types": ["T033"], "canonical_name": "Little cranial sutures"} {"concept_id": "C4072855", "aliases": [], "types": ["T033"], "canonical_name": "Small bregma sutures"} {"concept_id": "C4072857", "aliases": [], "types": ["T019"], "canonical_name": "Focal absence of scalp tissue"} {"concept_id": "C4072858", "aliases": [], "types": ["T019"], "canonical_name": "Solitary scalp defect"} {"concept_id": "C4072863", "aliases": [], "types": ["T033"], "canonical_name": "Dull foveal reflex"} {"concept_id": "C4072866", "aliases": [], "types": ["T033"], "canonical_name": "Lacunar retinal depigmentation"} {"concept_id": "C4072868", "aliases": [], "types": ["T047"], "canonical_name": "Paravenous chorioretinal atrophy", "definition": "Chorioretinal atrophy along the retinal veins. [HPO:probinson, PMID:15623792]"} {"concept_id": "C4072873", "aliases": ["Limited eye movement from Duane anomaly"], "types": ["T033"], "canonical_name": "Limited eye motility from Duane anomaly"} {"concept_id": "C4072875", "aliases": ["Hypoplasia of pituitary fossa"], "types": ["T033"], "canonical_name": "Hypoplasia of hypophseal fossa"} {"concept_id": "C4072876", "aliases": ["Small pituitary fossa"], "types": ["T033"], "canonical_name": "Small hypophyseal fossa"} {"concept_id": "C4072877", "aliases": ["Scalp furrows"], "types": ["T047"], "canonical_name": "Scalp folds"} {"concept_id": "C4072878", "aliases": ["Premaxillary bone retrusion", "Primary palate bone retrusion"], "types": ["T033"], "canonical_name": "Premaxillary retrusion"} {"concept_id": "C4072879", "aliases": ["Small zygomatic bone", "Small malar bone"], "types": ["T190"], "canonical_name": "Small cheekbone"} {"concept_id": "C4072880", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of hair consistency"} {"concept_id": "C4072881", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of hair curl pattern"} {"concept_id": "C4072882", "aliases": ["Large pelvis bone"], "types": ["T190"], "canonical_name": "Large pelvis bone", "definition": "The presence of an abnormally large pelvis. [HPO:probinson]"} {"concept_id": "C4072883", "aliases": ["Distorted craniofacial posture"], "types": ["T047"], "canonical_name": "Abnormal craniofacial posture"} {"concept_id": "C4072884", "aliases": [], "types": ["T019"], "canonical_name": "Ciliary body coloboma", "definition": "A coloboma of the ciliary body. []"} {"concept_id": "C4072885", "aliases": ["Increased serum testosterone levels", "High serum testosterone level", "High serum testosterone levels"], "types": ["T033"], "canonical_name": "Increased serum testosterone level", "definition": "An elevated circulating testosterone level in the blood. []"} {"concept_id": "C4072886", "aliases": ["Abnormal circulating gonadotropin level"], "types": ["T033"], "canonical_name": "Abnormal circulating gonadotropin concentration", "definition": "An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). [HPO:probinson]"} {"concept_id": "C4072887", "aliases": ["Decreased circulating gonadotropin level"], "types": ["T033"], "canonical_name": "Decreased circulating gonadotropin concentration", "definition": "A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). [HPO:probinson]"} {"concept_id": "C4072889", "aliases": ["Decreased circulating follicle stimulating hormone level"], "types": ["T033"], "canonical_name": "Decreased circulating follicle stimulating hormone concentration", "definition": "A reduction of the circulating level of follicle-stimulating hormone (FSH). [HPO:probinson]"} {"concept_id": "C4072890", "aliases": ["Decreased circulating luteinising hormone level"], "types": ["T033"], "canonical_name": "Decreased circulating luteinizing hormone level", "definition": "A reduction in the circulating level of luteinizing hormone (LH). [HPO:probinson]"} {"concept_id": "C4072891", "aliases": ["Abnormal circulating follicle-stimulating hormone level"], "types": ["T033"], "canonical_name": "Abnormal circulating follicle-stimulating hormone concentration", "definition": "An anomaly of the circulating level of follicle-stimulating hormone (FSH). [HPO:probinson]"} {"concept_id": "C4072892", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating androgen level", "definition": "An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. [HPO:probinson]"} {"concept_id": "C4072893", "aliases": ["Increased circulating androgen level"], "types": ["T033"], "canonical_name": "Increased circulating androgen concentration", "definition": "An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. [HPO:probinson]"} {"concept_id": "C4072894", "aliases": ["Decreased circulating androgen level"], "types": ["T033"], "canonical_name": "Decreased circulating androgen concentration", "definition": "A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. [HPO:probinson]"} {"concept_id": "C4072895", "aliases": [], "types": ["T033"], "canonical_name": "Urticarial plaque", "definition": "A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter. []"} {"concept_id": "C4072896", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal serum insulin-like growth factor 1 level", "definition": "An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. [HPO:probinson]"} {"concept_id": "C4072897", "aliases": [], "types": ["T033"], "canonical_name": "Decreased serum insulin-like growth factor 1", "definition": "A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation. [HPO:probinson]"} {"concept_id": "C4072898", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal serum interferon level", "definition": "Abnormal levels of interferon in the blood. [PMID:28487810]"} {"concept_id": "C4072899", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal serum interferon-gamma level", "definition": "Abnormal levels of interferon gamma measured in the blood circulation. [PMID:11335769]"} {"concept_id": "C4072900", "aliases": [], "types": ["T033"], "canonical_name": "Increased serum interferon-gamma level", "definition": "An elevation in the concentration of interferon gamma measured in the blood circulation. [HPO:probinson, PMID:11335769]"} {"concept_id": "C4072901", "aliases": ["Abnormality of icosanoid metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating eicosanoid concentration", "definition": "Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid). [HPO:probinson]"} {"concept_id": "C4072902", "aliases": [], "types": ["T033"], "canonical_name": "Reduced muscle carnitine level", "definition": "A reduction in the level of carnitine in muscle tissue. [HPO:probinson, PMID:8174281, PMID:8472351]"} {"concept_id": "C4072903", "aliases": [], "types": ["T033"], "canonical_name": "Primary Caesarian section", "definition": "Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section. [HPO:probinson]"} {"concept_id": "C4072904", "aliases": [], "types": ["T033"], "canonical_name": "Secondary Caesarian section", "definition": "Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth. [HPO:probinson]"} {"concept_id": "C4072905", "aliases": [], "types": ["T061"], "canonical_name": "Delivery by Odon device", "definition": "The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process. [HPO:probinson, PMID:23962177]"} {"concept_id": "C4072906", "aliases": [], "types": ["T190"], "canonical_name": "Finger hyperphalangy", "definition": "Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges. []"} {"concept_id": "C4072907", "aliases": ["Hyperphalangy of index finger"], "types": ["T190"], "canonical_name": "Hyperphalangy of the 2nd finger", "definition": "An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy. [HPO:probinson, PMID:25480037, PMID:6540680]"} {"concept_id": "C4072908", "aliases": [], "types": ["T046"], "canonical_name": "Induced vaginal delivery", "definition": "Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own. [HPO:probinson]"} {"concept_id": "C4072909", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal proportion of naive B cells", "definition": "A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. [HPO:probinson]"} {"concept_id": "C4072910", "aliases": [], "types": ["T033"], "canonical_name": "Increased proportion of naive B cells", "definition": "An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. [HPO:probinson]"} {"concept_id": "C4072911", "aliases": [], "types": ["T033"], "canonical_name": "Decreased proportion of naive B cells", "definition": "A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. [HPO:probinson]"} {"concept_id": "C4072912", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal proportion of memory B cells", "definition": "A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). [HPO:probinson, PMID:15771579]"} {"concept_id": "C4072913", "aliases": [], "types": ["T033"], "canonical_name": "Decreased proportion of memory B cells", "definition": "A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). [HPO:probinson]"} {"concept_id": "C4072914", "aliases": [], "types": ["T033"], "canonical_name": "Increased proportion of memory B cells", "definition": "An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). [HPO:probinson]"} {"concept_id": "C4072915", "aliases": ["Abnormal proportion of CD19+/CD21low B cells"], "types": ["T033"], "canonical_name": "Abnormal proportion of immature B cells", "definition": "A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). [HPO:probinson]"} {"concept_id": "C4072916", "aliases": ["Increased proportion of CD19+/CD21low B cells"], "types": ["T033"], "canonical_name": "Increased proportion of immature B cells", "definition": "An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). [HPO:probinson]"} {"concept_id": "C4072917", "aliases": ["Decreased proportion of CD19+/CD21low B cells"], "types": ["T033"], "canonical_name": "Decreased proportion of immature B cells", "definition": "A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). [HPO:probinson]"} {"concept_id": "C4072918", "aliases": ["Abnormal proportion of CD19+CD38+IgM+ cells"], "types": ["T033"], "canonical_name": "Abnormal proportion of transitional B cells", "definition": "A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. [HPO:probinson, PMID:23731328]"} {"concept_id": "C4072919", "aliases": ["Decreased proportion of CD19+CD38+IgM+ cells"], "types": ["T033"], "canonical_name": "Decreased proportion of transitional B cells", "definition": "A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. [HPO:probinson]"} {"concept_id": "C4072920", "aliases": ["Increased proportion of CD19+CD38+IgM+ cells"], "types": ["T033"], "canonical_name": "Increased proportion of transitional B cells", "definition": "An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. [HPO:probinson]"} {"concept_id": "C4072921", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal proportion of marginal zone B cells", "definition": "A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. [HPO:probinson, PMID:9802980]"} {"concept_id": "C4072922", "aliases": [], "types": ["T033"], "canonical_name": "Decreased proportion of marginal zone B cells", "definition": "A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. [PMID:9802980]"} {"concept_id": "C4072923", "aliases": [], "types": ["T033"], "canonical_name": "Increased proportion of marginal zone B cells", "definition": "An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. [HPO:probinson, PMID:9802980]"} {"concept_id": "C4072924", "aliases": ["Abnormal proportion of CD19+CD27+IgD- cells"], "types": ["T033"], "canonical_name": "Abnormal proportion of class-switched memory B cells", "definition": "A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. [HPO:probinson, PMID:19342988]"} {"concept_id": "C4072925", "aliases": ["Decreased proportion of CD19+CD27+IgD- cells"], "types": ["T033"], "canonical_name": "Decreased proportion of class-switched memory B cells", "definition": "A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. [HPO:probinson]"} {"concept_id": "C4072928", "aliases": [], "types": ["T048"], "canonical_name": "Spoken word recognition deficit", "definition": "Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus. [HPO:probinson]"} {"concept_id": "C4072929", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal platelet granule secretion", "definition": "Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion. [HPO:probinson, PMID:19450911]"} {"concept_id": "C4072930", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal platelet dense granule secretion", "definition": "Abnormal release of dense granules from platelets. [HPO:probinson]"} {"concept_id": "C4072931", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal platelet ATP dense granule secretion", "definition": "Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP). []"} {"concept_id": "C4072932", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal platelet alpha granule secretion", "definition": "Abnormal release of alpha granule contents from platelets. [HPO:probinson]"} {"concept_id": "C4072933", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal platelet lysosome secretion", "definition": "Abnormal release of lysosome contents from platelets. [HPO:probinson]"} {"concept_id": "C4072934", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal platelet dense granule ATP/ADP ratio", "definition": "Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets. [HPO:probinson]"} {"concept_id": "C4072935", "aliases": [], "types": ["T191"], "canonical_name": "Jejunal adenocarcinoma", "definition": "An adenocarcinoma that arises from the jejunum."} {"concept_id": "C4072936", "aliases": [], "types": ["T191"], "canonical_name": "Ileal adenocarcinoma", "definition": "A malignant epithelial tumor with a glandular organization that originates in the ileum. [HPO:probinson]"} {"concept_id": "C4072937", "aliases": [], "types": ["T191"], "canonical_name": "Verrucous cell carcinoma of the tongue", "definition": "A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance. []"} {"concept_id": "C4072939", "aliases": [], "types": ["T047"], "canonical_name": "Calcified ovarian cyst", "definition": "A cyst of the ovary that exhibits deposition of calcium salts. [HPO:probinson]"} {"concept_id": "C4072940", "aliases": [], "types": ["T191"], "canonical_name": "Ossifying fibroma of the jaw", "definition": "A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed. [HPO:probinson]"} {"concept_id": "C4072941", "aliases": [], "types": ["T191"], "canonical_name": "Anal margin melanoma", "definition": "A melanoma that originates in the anal margin. [HPO:probinson]"} {"concept_id": "C4072942", "aliases": ["Atypical pulmonary carcinoid tumour"], "types": ["T191"], "canonical_name": "Atypical pulmonary carcinoid tumor"} {"concept_id": "C4072944", "aliases": [], "types": ["T190"], "canonical_name": "Chylolymphatic mesenteric cyst", "definition": "A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid. [HPO:probinson, PMID:19946589]"} {"concept_id": "C4072945", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal visual electrophysiology"} {"concept_id": "C4072946", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of pattern visual evoked potentials"} {"concept_id": "C4072947", "aliases": ["Abnormality of pattern onset/offset VEP"], "types": ["T033"], "canonical_name": "Abnormality of pattern onset/offset visual evoked potentials"} {"concept_id": "C4072948", "aliases": ["Abnormal amplitude of pattern onset/offset VEP"], "types": ["T033"], "canonical_name": "Abnormal amplitude of pattern onset/offset visual evoked potentials"} {"concept_id": "C4072949", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal timing of pattern onset/offset visual evoked potentials"} {"concept_id": "C4072950", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal timing of pattern reversal visual evoked potentials"} {"concept_id": "C4072951", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal timing of flash visual evoked potentials"} {"concept_id": "C4072952", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal amplitude of flash visual evoked potentials"} {"concept_id": "C4072953", "aliases": ["Crossed asymmetry of flash visual evoked potentials"], "types": ["T033"], "canonical_name": "Asymmetrical distribution of flash visual evoked potentials"} {"concept_id": "C4072954", "aliases": ["Crossed asymmetry of pattern reversal visual evoked potentials"], "types": ["T033"], "canonical_name": "Asymmetrical distribution of pattern reversal visual evoked potentials"} {"concept_id": "C4072955", "aliases": ["non-detectable photopic ERG", "Absent photopic (cone) responses on ERG"], "types": ["T033"], "canonical_name": "Undetectable light-adapted electroretinogram", "definition": "No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells. [PMID:25502644]"} {"concept_id": "C4072956", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal full-field electroretinogram"} {"concept_id": "C4072957", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal pattern electroretinogram", "definition": "An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light. [HPO:probinson, PMID:17522779, PMID:3076152]"} {"concept_id": "C4072958", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal multifocal electroretinogram"} {"concept_id": "C4072959", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal dark-adapted electroretinogram"} {"concept_id": "C4072960", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal dark-adapted bright flash electroretinogram"} {"concept_id": "C4072961", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal dark-adapted dim flash electroretinogram"} {"concept_id": "C4072962", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal light-adapted single flash electroretinogram"} {"concept_id": "C4072963", "aliases": ["Abnormal light-adapted 30Hz flicker ERG", "Abnormal light-adapted 30Hz flicker electroretinogram", "Abnormal light-adapted flicker ERG", "Abnormal light-adapted flicker electroretinogram"], "types": ["T033"], "canonical_name": "Abnormal light-adapted flicker electroretinogram"} {"concept_id": "C4072964", "aliases": [], "types": ["T033"], "canonical_name": "Undetectable dark-adapted electroretinogram"} {"concept_id": "C4072965", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal timing of dark-adapted dim flash electroretinogram"} {"concept_id": "C4072966", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal amplitude of dark-adapted dim flash electroretinogram"} {"concept_id": "C4072967", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal timing of dark-adapted bright flash electroretinogram"} {"concept_id": "C4072968", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal amplitude of dark-adapted bright flash electroretinogram"} {"concept_id": "C4072969", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal amplitude of light-adapted flicker electroretinogram"} {"concept_id": "C4072970", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal timing of light-adapted flicker electroretinogram"} {"concept_id": "C4072971", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal amplitude of light-adapted single flash electroretinogram"} {"concept_id": "C4072972", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal timing of light-adapted single flash electroretinogram"} {"concept_id": "C4072973", "aliases": [], "types": ["T033"], "canonical_name": "Reduced amplitude of dark-adapted bright flash electroretinogram a-wave", "definition": "An abnormal reduction in the amplitude of the a-wave. []"} {"concept_id": "C4072974", "aliases": [], "types": ["T033"], "canonical_name": "Supernormal dark-adapted bright flash electroretinogram b-wave"} {"concept_id": "C4072975", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal amplitude of pattern electroretinogram"} {"concept_id": "C4072976", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal timing of pattern electroretinogram"} {"concept_id": "C4072977", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal P50/N95 ratio of pattern electroretinogram"} {"concept_id": "C4072978", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal central response of multifocal electroretinogram"} {"concept_id": "C4072979", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal paracentral response of multifocal electroretinogram"} {"concept_id": "C4072980", "aliases": [], "types": ["T047"], "canonical_name": "Exudative vitreoretinopathy"} {"concept_id": "C4072981", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of foveal pigmentation", "definition": "An anomaly of the pigmentation in the fovea centralis. []"} {"concept_id": "C4072982", "aliases": [], "types": ["T047"], "canonical_name": "Macular microaneurysm/hemorrhage", "definition": "Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms). []"} {"concept_id": "C4072983", "aliases": ["Abnormality of macular vasculature"], "types": ["T190"], "canonical_name": "Abnormality morphology of the macular vasculature", "definition": "Any structural anomaly of the blood vessels of the macula. []"} {"concept_id": "C4072985", "aliases": [], "types": ["T033"], "canonical_name": "Macular cotton wool spot", "definition": "Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. [PMID:6169833]"} {"concept_id": "C4072986", "aliases": [], "types": ["T033"], "canonical_name": "Macular thickening", "definition": "Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4072987", "aliases": [], "types": ["T033"], "canonical_name": "Yellow/white lesions of the macula"} {"concept_id": "C4072988", "aliases": [], "types": ["T033"], "canonical_name": "Macular crystals", "definition": "Crystalline deposits in the macula. []"} {"concept_id": "C4072989", "aliases": ["Bear track congenital hypertrophy of retinal pigment epithelium"], "types": ["T019"], "canonical_name": "Grouped congenital hypertrophy of retinal pigment epithelium"} {"concept_id": "C4072990", "aliases": ["Nummular pigmentation of the retina"], "types": ["T033"], "canonical_name": "Nummular pigmentation of the fundus", "definition": "Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium. [PMID:21763485]"} {"concept_id": "C4072991", "aliases": [], "types": ["T033"], "canonical_name": "Yellow/white lesions of the retina"} {"concept_id": "C4072992", "aliases": [], "types": ["T033"], "canonical_name": "Retinal crystals", "definition": "Crystalline deposits in the retina. [PMID:12498506]"} {"concept_id": "C4072993", "aliases": ["Retinal racemose haemangioma"], "types": ["T191"], "canonical_name": "Retinal racemose hemangioma"} {"concept_id": "C4072994", "aliases": [], "types": ["T033"], "canonical_name": "Difficulty adjusting to changes in luminance"} {"concept_id": "C4072995", "aliases": [], "types": ["T190"], "canonical_name": "Difficulty adjusting from light to dark"} {"concept_id": "C4072996", "aliases": [], "types": ["T190"], "canonical_name": "Difficulty adjusting from dark to light"} {"concept_id": "C4072997", "aliases": ["Congruous hemianopsia"], "types": ["T033"], "canonical_name": "Congruous homonymous hemianopia"} {"concept_id": "C4072998", "aliases": [], "types": ["T047"], "canonical_name": "Congruous heteronymous hemianopia"} {"concept_id": "C4072999", "aliases": ["Mild peripheral visual field loss"], "types": ["T033"], "canonical_name": "Mild constriction of peripheral visual field", "definition": "A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians. [UManchester:psergouniotis]"} {"concept_id": "C4073004", "aliases": ["Very severe peripheral visual field loss"], "types": ["T033"], "canonical_name": "Very severe constriction of peripheral visual field", "definition": "Peripheral visual field constriction with <10 degrees central field preserved. []"} {"concept_id": "C4073005", "aliases": [], "types": ["T033"], "canonical_name": "Altitudinal visual field defect"} {"concept_id": "C4073006", "aliases": [], "types": ["T033"], "canonical_name": "Visual acuity test abnormality"} {"concept_id": "C4073007", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal unaided visual acuity test"} {"concept_id": "C4073008", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal best corrected visual acuity test"} {"concept_id": "C4073009", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal pinhole visual acuity test"} {"concept_id": "C4073010", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 0.1 LogMAR"} {"concept_id": "C4073011", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 0.2 LogMAR"} {"concept_id": "C4073012", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 0.3 LogMAR"} {"concept_id": "C4073013", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 0.4 LogMAR"} {"concept_id": "C4073014", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 0.5 LogMAR"} {"concept_id": "C4073015", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 0.6 LogMAR"} {"concept_id": "C4073016", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 0.7 LogMAR"} {"concept_id": "C4073017", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 0.8 LogMAR"} {"concept_id": "C4073018", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 0.9 LogMAR"} {"concept_id": "C4073019", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 1.0 LogMAR"} {"concept_id": "C4073020", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 1.1 LogMAR"} {"concept_id": "C4073021", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 1.2 LogMAR"} {"concept_id": "C4073022", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 1.3 LogMAR"} {"concept_id": "C4073023", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 2.0 LogMAR"} {"concept_id": "C4073024", "aliases": [], "types": ["T033"], "canonical_name": "Unaided visual acuity 3.0 LogMAR"} {"concept_id": "C4073025", "aliases": [], "types": ["T033"], "canonical_name": "Visual acuity light perception with projection"} {"concept_id": "C4073026", "aliases": [], "types": ["T033"], "canonical_name": "Visual acuity light perception without projection"} {"concept_id": "C4073027", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 0.1 LogMAR"} {"concept_id": "C4073028", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 0.2 LogMAR"} {"concept_id": "C4073029", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 0.3 LogMAR"} {"concept_id": "C4073030", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 0.4 LogMAR"} {"concept_id": "C4073031", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 0.5 LogMAR"} {"concept_id": "C4073032", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 0.7 LogMAR"} {"concept_id": "C4073033", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 0.6 LogMAR"} {"concept_id": "C4073034", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 0.8 LogMAR"} {"concept_id": "C4073035", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 0.9 LogMAR"} {"concept_id": "C4073036", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 1.0 LogMAR"} {"concept_id": "C4073037", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 1.1 LogMAR"} {"concept_id": "C4073038", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 1.2 LogMAR"} {"concept_id": "C4073039", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 1.3 LogMAR"} {"concept_id": "C4073040", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 2.0 LogMAR"} {"concept_id": "C4073041", "aliases": [], "types": ["T033"], "canonical_name": "Best corrected visual acuity 3.0 LogMAR"} {"concept_id": "C4073042", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 0.1 LogMAR"} {"concept_id": "C4073043", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 0.2 LogMAR"} {"concept_id": "C4073044", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 0.3 LogMAR"} {"concept_id": "C4073045", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 0.4 LogMAR"} {"concept_id": "C4073046", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 0.5 LogMAR"} {"concept_id": "C4073047", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 0.6 LogMAR"} {"concept_id": "C4073048", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 0.7 LogMAR"} {"concept_id": "C4073049", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 0.8 LogMAR"} {"concept_id": "C4073050", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 0.9 LogMAR"} {"concept_id": "C4073051", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 1.0 LogMAR"} {"concept_id": "C4073052", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 1.1 LogMAR"} {"concept_id": "C4073053", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 1.2 LogMAR"} {"concept_id": "C4073054", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 1.3 LogMAR"} {"concept_id": "C4073055", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 2.0 LogMAR"} {"concept_id": "C4073056", "aliases": [], "types": ["T033"], "canonical_name": "Pinhole visual acuity 3.0 LogMAR"} {"concept_id": "C4073057", "aliases": ["Colour vision test abnormality"], "types": ["T033"], "canonical_name": "Color vision test abnormality"} {"concept_id": "C4073058", "aliases": [], "types": ["T033"], "canonical_name": "Red desaturation"} {"concept_id": "C4073059", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal Ishihara plate test"} {"concept_id": "C4073060", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal Hardy-Rand-Rittler plate test"} {"concept_id": "C4073061", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal confrontational visual field test"} {"concept_id": "C4073062", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal Amsler grid test"} {"concept_id": "C4073063", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal kinetic perimetry test"} {"concept_id": "C4073064", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal static perimetry test"} {"concept_id": "C4073065", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal manual kinetic perimetry test"} {"concept_id": "C4073066", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal automated kinetic perimetry test"} {"concept_id": "C4073067", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal static automated perimetry test"} {"concept_id": "C4073068", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal Humphrey SITA 30-2 perimetry test"} {"concept_id": "C4073069", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal Humphrey SITA 24-2 perimetry test"} {"concept_id": "C4073070", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal Humphrey SITA 10-2 perimetry test"} {"concept_id": "C4073071", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal Estermann grid perimetry test"} {"concept_id": "C4073072", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal posterior segment imaging"} {"concept_id": "C4073073", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal fundus autofluorescence imaging", "definition": "Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference. [PMID:27847630]"} {"concept_id": "C4073074", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal fundus fluorescein angiography", "definition": "An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation. []"} {"concept_id": "C4073075", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal indocyanine green angiography"} {"concept_id": "C4073076", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal OCT-measured macular thickness"} {"concept_id": "C4073077", "aliases": [], "types": ["T033"], "canonical_name": "Reduced OCT-measured macular thickness"} {"concept_id": "C4073078", "aliases": [], "types": ["T033"], "canonical_name": "Increased OCT-measured macular thickness"} {"concept_id": "C4073079", "aliases": [], "types": ["T033"], "canonical_name": "Photoreceptor layer loss on macular OCT", "definition": "Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. [HPO:probinson]"} {"concept_id": "C4073080", "aliases": [], "types": ["T033"], "canonical_name": "Photoreceptor outer segment loss on macular OCT"} {"concept_id": "C4073081", "aliases": [], "types": ["T033"], "canonical_name": "Retinal pigment epithelial loss on macular OCT"} {"concept_id": "C4073082", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal retinal morphology on macular OCT"} {"concept_id": "C4073083", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal foveal morphology on macular OCT"} {"concept_id": "C4073084", "aliases": [], "types": ["T033"], "canonical_name": "Foveal photoreceptor layer loss on macular OCT"} {"concept_id": "C4073085", "aliases": [], "types": ["T033"], "canonical_name": "Foveal photoreceptor outer segment loss on macular OCT"} {"concept_id": "C4073086", "aliases": [], "types": ["T033"], "canonical_name": "Foveal retinal pigment epithelial loss on macular OCT"} {"concept_id": "C4073087", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal OCT-measured foveal thickness"} {"concept_id": "C4073088", "aliases": [], "types": ["T033"], "canonical_name": "Increased OCT-measured foveal thickness"} {"concept_id": "C4073089", "aliases": [], "types": ["T033"], "canonical_name": "Reduced OCT-measured foveal thickness"} {"concept_id": "C4073090", "aliases": [], "types": ["T033"], "canonical_name": "Inner retinal layer loss on macular OCT"} {"concept_id": "C4073091", "aliases": [], "types": ["T033"], "canonical_name": "Foveal inner retinal layer loss on macular OCT"} {"concept_id": "C4073092", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal foveal pit on macular OCT"} {"concept_id": "C4073093", "aliases": [], "types": ["T033"], "canonical_name": "Intraretinal hyporeflective spaces on macular OCT"} {"concept_id": "C4073094", "aliases": [], "types": ["T033"], "canonical_name": "Subretinal hyporeflective spaces on macular OCT"} {"concept_id": "C4073095", "aliases": [], "types": ["T033"], "canonical_name": "Hyporeflective spaces on macular OCT"} {"concept_id": "C4073096", "aliases": [], "types": ["T033"], "canonical_name": "Foveal intraretinal hyporeflective spaces on macular OCT"} {"concept_id": "C4073097", "aliases": [], "types": ["T033"], "canonical_name": "Foveal hyporeflective spaces on macular OCT"} {"concept_id": "C4073098", "aliases": [], "types": ["T033"], "canonical_name": "Foveal subretinal hyporeflective spaces on macular OCT"} {"concept_id": "C4073099", "aliases": [], "types": ["T033"], "canonical_name": "Perifoveal ring of hyperautofluorescence"} {"concept_id": "C4073100", "aliases": [], "types": ["T033"], "canonical_name": "Irregular central macular autofluorescence"} {"concept_id": "C4073101", "aliases": [], "types": ["T033"], "canonical_name": "Hyperautofluorescent macular lesion", "definition": "Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. [PMID:27847630]"} {"concept_id": "C4073102", "aliases": ["Hypo-autofluorescent macular lesion"], "types": ["T033"], "canonical_name": "Hypoautofluorescent macular lesion", "definition": "Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. [PMID:27847630]"} {"concept_id": "C4073103", "aliases": [], "types": ["T033"], "canonical_name": "Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence"} {"concept_id": "C4073104", "aliases": [], "types": ["T033"], "canonical_name": "Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence"} {"concept_id": "C4073105", "aliases": [], "types": ["T047"], "canonical_name": "Congenital stationary night blindness with normal fundus"} {"concept_id": "C4073106", "aliases": [], "types": ["T019"], "canonical_name": "Congenital stationary night blindness with abnormal fundus"} {"concept_id": "C4073107", "aliases": [], "types": ["T047"], "canonical_name": "Incomplete congenital stationary night blindness"} {"concept_id": "C4073108", "aliases": [], "types": ["T033"], "canonical_name": "Vitelliform-like retinal lesions"} {"concept_id": "C4073109", "aliases": ["Blind spot enlargment"], "types": ["T033"], "canonical_name": "Blind-spot enlargment"} {"concept_id": "C4073110", "aliases": [], "types": ["T082"], "canonical_name": "Paracentral"} {"concept_id": "C4073111", "aliases": ["Mid-peripheral"], "types": ["T082"], "canonical_name": "Midperipheral"} {"concept_id": "C4073112", "aliases": [], "types": ["T082"], "canonical_name": "Pericentral"} {"concept_id": "C4073113", "aliases": [], "types": ["T033"], "canonical_name": "Vitreous haze", "definition": "Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation. [HPO:probinson, PMID:20719302]"} {"concept_id": "C4073114", "aliases": [], "types": ["T190"], "canonical_name": "Umbilical cord cyst", "definition": "Any cystic lesion associated with the umbilical cord. [PMID:10206815, PMID:12666213]"} {"concept_id": "C4073115", "aliases": [], "types": ["T190"], "definition": "Focal dilation of the umbilical vein. []", "canonical_name": "Umbilical vein varix"} {"concept_id": "C4073116", "aliases": [], "types": ["T190"], "canonical_name": "Furcate cord insertion", "definition": "Branching of the umbilical cord before its insertion into the placenta. []"} {"concept_id": "C4073117", "aliases": [], "types": ["T033"], "canonical_name": "Vitreous inflammatory cells", "definition": "The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous. []"} {"concept_id": "C4073118", "aliases": [], "types": ["T190"], "canonical_name": "Optically empty vitreous", "definition": "Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. [PMID:15557460, PMID:7867814]"} {"concept_id": "C4073119", "aliases": [], "types": ["T047"], "canonical_name": "Periorbital dermoid cyst", "definition": "A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts. []"} {"concept_id": "C4073120", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ocular adnexa morphology", "definition": "A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. []"} {"concept_id": "C4073121", "aliases": [], "types": ["T191"], "canonical_name": "Hamartoma of the orbital region", "definition": "A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region. []"} {"concept_id": "C4073122", "aliases": ["Abnormality of the common tendinous ring"], "types": ["T190"], "canonical_name": "Abnormal common tendinous ring morphology", "definition": "Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles. [HPO:probinson]"} {"concept_id": "C4073123", "aliases": [], "types": ["T033"], "canonical_name": "Contracture of proximal interphalangeal joints of 2nd-5th fingers", "definition": "Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue. []"} {"concept_id": "C4073124", "aliases": [], "types": ["T019"], "canonical_name": "Mozart ear", "definition": "A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus. [PMID:21587051]"} {"concept_id": "C4073125", "aliases": [], "types": ["T033"], "canonical_name": "Ash-leaf spot", "definition": "A hypopigmented spot in the shape of a leaf from the mountain ash tree. [HPO:probinson, PMID:23761491, PMID:9637809]"} {"concept_id": "C4073126", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal adiponectin level", "definition": "A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism. [HPO:probinson, PMID:26221520]"} {"concept_id": "C4073127", "aliases": [], "types": ["T033"], "canonical_name": "Decreased adiponectin level", "definition": "A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. [HPO:probinson]"} {"concept_id": "C4073128", "aliases": [], "types": ["T033"], "canonical_name": "Increased adiponectin level", "definition": "An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. []"} {"concept_id": "C4073129", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal glucagon level", "definition": "A deviation from the normal concentration of glucagon in the blood circulation. [HPO:probinson]"} {"concept_id": "C4073130", "aliases": [], "types": ["T033"], "canonical_name": "Divergence nystagmus", "definition": "A condition in which both eyes beat outward simultaneously. []"} {"concept_id": "C4073131", "aliases": [], "types": ["T019"], "canonical_name": "Dysmelia"} {"concept_id": "C4073132", "aliases": ["Abnormal shape of pelvis bone"], "types": ["T190"], "canonical_name": "Abnormal pelvis bone morphology"} {"concept_id": "C4073134", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the periosteum"} {"concept_id": "C4073136", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of hair growth"} {"concept_id": "C4073137", "aliases": ["Decreased serum testosterone levels", "Low serum testosterone levels", "Low serum testosterone level", "Decreased serum testosterone level"], "types": ["T033"], "canonical_name": "Decreased serum testosterone concentration"} {"concept_id": "C4073138", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of occipitofrontalis muscle"} {"concept_id": "C4073139", "aliases": ["Abnormality of the tongue muscle", "Abnormality of lingual muscle"], "types": ["T190"], "canonical_name": "Abnormality of the tongue muscle"} {"concept_id": "C4073140", "aliases": ["Abnormality of extrinsic lingual muscle"], "types": ["T190"], "canonical_name": "Abnormality of extrinsic muscle of tongue"} {"concept_id": "C4073141", "aliases": ["Abnormal level of phospholipids"], "types": ["T033"], "canonical_name": "Abnormal circulating phospholipid concentration", "definition": "Any deviation from the normal concentration of a phospholipid in the blood circulation. []"} {"concept_id": "C4073142", "aliases": ["Abnormal level of PAF"], "types": ["T033"], "canonical_name": "Abnormal level of platelet-activating factor"} {"concept_id": "C4073143", "aliases": ["Increased level of PAF"], "types": ["T033"], "canonical_name": "Increased level of platelet-activating factor"} {"concept_id": "C4073144", "aliases": ["Decreased level of PAF"], "types": ["T033"], "canonical_name": "Decreased level of platelet-activating factor"} {"concept_id": "C4073146", "aliases": ["White scaling skin", "White scaly skin"], "types": ["T033"], "canonical_name": "White scaling skin"} {"concept_id": "C4073148", "aliases": ["Negative chorea"], "types": ["T033"], "canonical_name": "Motor impersistence", "definition": "The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts. [DOI:10.1007/978-0-387-79948-3_2046, PhenoTips:CHum]"} {"concept_id": "C4073149", "aliases": [], "types": ["T033"], "canonical_name": "Simultanapraxia", "definition": "A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue. [DOI:10.1007/978-0-387-79948-3_2046, PhenoTips:CHum]"} {"concept_id": "C4073150", "aliases": ["Abnormal consumption behaviour"], "types": ["T048"], "canonical_name": "Abnormal consumption behavior"} {"concept_id": "C4073151", "aliases": ["Abnormal CSF neopterin level"], "types": ["T033"], "canonical_name": "Abnormal CSF neopterin concentration", "definition": "Abnormal concentration of neopterin in the cerebrospinal fluid (CSF). []"} {"concept_id": "C4073152", "aliases": [], "types": ["T033"], "canonical_name": "Elevated CSF neopterin level", "definition": "Increased concentration of neopterin in the cerebrospinal fluid (CSF). []"} {"concept_id": "C4073153", "aliases": [], "types": ["T033"], "canonical_name": "Decreased CSF neopterin level", "definition": "Decreased concentration of neopterin in the cerebrospinal fluid (CSF). []"} {"concept_id": "C4073154", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating neopterin concentration", "definition": "Any deviation from the normal concentration of neopterin in the blood circulation. []"} {"concept_id": "C4073155", "aliases": ["Abnormal CSF biopterin level", "Abnormal cerebrospinal fluid biopterin level"], "types": ["T033"], "canonical_name": "Abnormal CSF biopterin concentration", "definition": "Abnormal concentration of biopterin in the cerebrospinal fluid (CSF). []"} {"concept_id": "C4073156", "aliases": [], "types": ["T033"], "canonical_name": "Elevated CSF biopterin level", "definition": "Increased concentration of biopterin in the cerebrospinal fluid (CSF). []"} {"concept_id": "C4073157", "aliases": ["Low CSF BH4 (tetrahydrobiopterin)"], "types": ["T033"], "canonical_name": "Decreased CSF biopterin level", "definition": "Decreased concentration of biopterin in the cerebrospinal fluid (CSF). []"} {"concept_id": "C4073158", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating biopterin concentration", "definition": "A deviation from the normal concentration of biopterin in the blood circulation. []"} {"concept_id": "C4073159", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal skin morphology of the palm", "definition": "An abnormality of the skin of the palm, that is, the skin of the front of the hand. []"} {"concept_id": "C4073160", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal insulin level", "definition": "An abnormal concentration of insulin in the body. []"} {"concept_id": "C4073161", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating insulin level", "definition": "An abnormal concentration of insulin in the blood. []"} {"concept_id": "C4073162", "aliases": ["Elevated glycated haemoglobin", "Elevated haemoglobin A1c", "Elevated glycated hemoglobin", "Elevated glycosylated hemoglobin", "Elevated glycosylated haemoglobin", "Increased HbA1c levels", "Elevated HbA1c"], "types": ["T033"], "canonical_name": "Elevated hemoglobin A1c", "definition": "A laboratory test result demonstrating an increase in the glycosylated hemoglobin in a blood sample."} {"concept_id": "C4073163", "aliases": ["Absent NK cells"], "types": ["T033"], "canonical_name": "Absent natural killer cells", "definition": "Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis. [HPO:probinson]"} {"concept_id": "C4073164", "aliases": ["Decreased urinary copper concentration"], "types": ["T033"], "canonical_name": "Decreased urinary copper concentration"} {"concept_id": "C4073165", "aliases": ["Abnormal urinary copper concentration"], "types": ["T033"], "canonical_name": "Abnormal urinary copper concentration"} {"concept_id": "C4073166", "aliases": ["Abnormality of jaw muscles"], "types": ["T190"], "canonical_name": "Abnormality of jaw muscles"} {"concept_id": "C4073167", "aliases": [], "types": ["T046"], "canonical_name": "Osteolysis involving bones of the upper limbs"} {"concept_id": "C4073168", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal lactate dehydrogenase level", "definition": "A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. [PMID:25984930]"} {"concept_id": "C4073169", "aliases": ["Decreased serum complement C4 level"], "types": ["T033"], "canonical_name": "Decreased serum complement C4", "definition": "A reduced level of the complement component C4 in the circulation. [https://emedicine.medscape.com/article/135478-overview]"} {"concept_id": "C4073171", "aliases": ["Elevated plasma acylcarnitine levels"], "types": ["T033"], "canonical_name": "Elevated circulating acylcarnitine concentration", "definition": "An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. []"} {"concept_id": "C4073172", "aliases": ["Increased HbA2 haemoglobin", "Increased hemoglobin A2", "Increased haemoglobin A2"], "types": ["T033"], "canonical_name": "Increased HbA2 hemoglobin", "definition": "An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia. [HPO:probinson, PMID:26372049]"} {"concept_id": "C4073173", "aliases": ["Abnormal transfer factor of the lung for carbon monoxide", "Abnormal TLCO", "Abnormal diffusing capacity"], "types": ["T033"], "canonical_name": "Abnormal DLCO", "definition": "An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs. [PMID:32310609]"} {"concept_id": "C4073174", "aliases": ["Increased diffusing capacity"], "types": ["T033"], "canonical_name": "Increased DLCO", "definition": "Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. [PMID:32310609]"} {"concept_id": "C4073175", "aliases": ["Decreased diffusing capacity"], "types": ["T033"], "canonical_name": "Decreased DLCO", "definition": "Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. [PMID:32310609]"} {"concept_id": "C4073176", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the brachial nerve plexus", "definition": "Any abnormality of the brachial nerve plexus. []"} {"concept_id": "C4073177", "aliases": [], "types": ["T019"], "canonical_name": "Abnormality of the lumbosacral nerve plexus", "definition": "Any abnormality of the lumbosacral nerve plexus. []"} {"concept_id": "C4073178", "aliases": ["Tiger-tail banding", "Tiger tail banding"], "types": ["T033"], "canonical_name": "Tiger tail banding", "definition": "An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding. [PMID:15692466]"} {"concept_id": "C4073179", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal levels of alpha-fetoprotein"} {"concept_id": "C4073180", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the testis size", "definition": "An anomaly of the size of the testicle (the male gonad). []"} {"concept_id": "C4073181", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia/hypoplasia involving bones of the extremities"} {"concept_id": "C4073182", "aliases": [], "types": ["T033"], "canonical_name": "Decreased carnitine level in liver"} {"concept_id": "C4073183", "aliases": [], "types": ["T033"], "canonical_name": "Allodynia of scalp"} {"concept_id": "C4073184", "aliases": ["Increased follicular density", "Thick hair"], "types": ["T033"], "definition": "Increased density of hairs, i.e., and elevated number of hairs per unit area. [HPO:probinson]", "canonical_name": "Increased hair density"} {"concept_id": "C4073185", "aliases": ["Ophthalmic artery anomaly"], "types": ["T190"], "canonical_name": "Abnormality of ophthalmic artery", "definition": "Abnormality of the first branch of the internal carotid artery. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073187", "aliases": ["Abnormality of the peripheral nervous system"], "types": ["T033"], "canonical_name": "Abnormality of the peripheral nervous system", "definition": "Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073188", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the somatic nervous system", "definition": "Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073189", "aliases": [], "types": ["T019"], "canonical_name": "Abnormality of somatic nerve plexus", "definition": "Any abnormality of the somatic nerve plexus. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073190", "aliases": ["Abnormality of muscles of mastication"], "types": ["T190"], "canonical_name": "Abnormality of masticatory muscle", "definition": "Any abnormality of the masticatory muscle. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4073191", "aliases": ["Abnormality of the mouth floor", "Abnormality of the floor of mouth"], "types": ["T190"], "canonical_name": "Abnormal mouth floor morphology", "definition": "Any abnormality of the mouth floor. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4073192", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the submandibular region", "definition": "Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery. [https://www.dartmouth.edu/~humananatomy/part_8/chapter_49.html, ORCID:0000-0001-5208-3432]"} {"concept_id": "C4073193", "aliases": [], "types": ["T019"], "canonical_name": "Abnormality of ganglion", "definition": "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system. [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073194", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of ganglion of peripheral nervous system", "definition": "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system. [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073195", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of cranial ganglion", "definition": "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium. [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073196", "aliases": ["Abnormality of soft palate muscles"], "types": ["T190"], "canonical_name": "Abnormality of musculature of soft palate", "definition": "An abnormality of one or more of the five muscles of the soft palate. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073197", "aliases": ["Abnormality of pharyngeal musculature", "Abnormality of pharynx musculature", "Abnormality of musculature of pharynx", "Abnormality of muscles of the pharynx"], "types": ["T190"], "canonical_name": "Abnormal morphology of musculature of pharynx", "definition": "An abnormality of any of the muscles of the pharynx. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073198", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of tensor veli palatini muscle", "definition": "An abnormality of the tensor veli palatini muscle [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073199", "aliases": ["Abnormality of musculus uvulae"], "types": ["T190"], "canonical_name": "Abnormality of uvular muscle", "definition": "An abnormality of the uvular muscle [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073200", "aliases": ["Abnormality of musculature of the nose", "Abnormality of nasal musculature", "Abnormality of muscle of nose"], "types": ["T190"], "canonical_name": "Abnormality of nasal musculature", "definition": "An abnormality of the muscles of the structure of the nose. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073201", "aliases": ["Abnormality of musculature of facial expression", "Abnormality of muscle of facial expression"], "types": ["T033"], "canonical_name": "Abnormality of muscle of facial expression", "definition": "An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073202", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of levator labii superioris alaeque nasi muscle", "definition": "An abnormality of the levator labii superioris alaeque nasi muscle. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073203", "aliases": ["Abnormality of the common carotid artery"], "types": ["T190"], "canonical_name": "Abnormal common carotid artery morphology", "definition": "An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073204", "aliases": ["Abnormality of the sphenoidal sinus"], "types": ["T190"], "canonical_name": "Abnormality of the sphenoid sinus", "definition": "An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073205", "aliases": ["Abnormality of the maxillary antrum", "Abnormality of the antrum of Highmore", "Abnormality of the upper jaw sinus"], "types": ["T190"], "canonical_name": "Abnormality of the maxillary sinus", "definition": "An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073206", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of external jugular vein", "definition": "An abnormality of an external jugular vein of the neck. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073207", "aliases": ["Bilateral facial palsy", "Bilateral facial muscle weakness", "Paralysis of both sides of the face", "Bilateral facial paralysis", "Bilateral facial muscle paralysis"], "types": ["T033"], "definition": "Two-sided or bilateral weakness of the muscles of facial expression and eye closure. [ORCID:0000-0001-5889-4463]", "canonical_name": "Weakness of both sides of the face"} {"concept_id": "C4073208", "aliases": ["Abnormal morphology of the midface", "Dysmorphic midface", "Abnormality of the shape of the midface"], "types": ["T190"], "canonical_name": "Abnormality of the shape of the midface", "definition": "An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073209", "aliases": ["Prognathia of the upper jaw"], "types": ["T033"], "canonical_name": "Maxillary prognathia"} {"concept_id": "C4073210", "aliases": ["Increased size of premaxilla", "Primary palate bone excess", "Hyperplasia of the primary palate bone", "Large premaxilla", "Premaxillary excess", "Hyperplasia of the intermaxillary bone", "Large primary palate bone", "Increased size of the primary palate bone"], "types": ["T190"], "canonical_name": "Hyperplasia of the premaxilla", "definition": "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073211", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal inner ear epithelium morphology", "definition": "Any structural anomaly of an inner ear epithelium. [GOC:TermGenie]"} {"concept_id": "C4073212", "aliases": ["Abnormality of mandibular ramus"], "types": ["T190"], "canonical_name": "Abnormal mandibular ramus morphology", "definition": "An abnormality of a mandibular ramus. [GOC:TermGenie]"} {"concept_id": "C4073213", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of frontalis muscle belly", "definition": "An abnormality of a frontalis muscle belly. [GOC:TermGenie]"} {"concept_id": "C4073214", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of masseter muscle", "definition": "An abnormality of a masseter muscle. [GOC:TermGenie]"} {"concept_id": "C4073215", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of medial pterygoid muscle", "definition": "An abnormality of a medial pterygoid muscle. [GOC:TermGenie]"} {"concept_id": "C4073216", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of mentalis muscle", "definition": "An abnormality of a mentalis muscle. [GOC:TermGenie]"} {"concept_id": "C4073217", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of mylohyoid muscle", "definition": "An abnormality of a mylohyoid muscle. [GOC:TermGenie]"} {"concept_id": "C4073218", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of nasalis muscle", "definition": "An abnormality of a nasalis muscle. [GOC:TermGenie]"} {"concept_id": "C4073219", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of orbicularis oris muscle", "definition": "An abnormality of an orbicularis oris muscle. [GOC:TermGenie]"} {"concept_id": "C4073220", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of palatoglossus muscle", "definition": "An abnormality of a palatoglossus muscle. [GOC:TermGenie]"} {"concept_id": "C4073221", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of palatopharyngeus muscle", "definition": "An abnormality of a palatopharyngeus muscle. [GOC:TermGenie]"} {"concept_id": "C4073222", "aliases": ["Abnormality of the platysma muscle"], "types": ["T190"], "canonical_name": "Abnormality of platysma", "definition": "An abnormality of the platysma muscle. [GOC:TermGenie, ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073223", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of procerus muscle", "definition": "An abnormality of a procerus. [GOC:TermGenie]"} {"concept_id": "C4073224", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of risorius muscle", "definition": "An abnormality of a risorius muscle. [GOC:TermGenie]"} {"concept_id": "C4073225", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of styloglossus muscle", "definition": "An abnormality of the styloglossus muscle. [GOC:TermGenie, ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073226", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of temporalis muscle", "definition": "An abnormality of a temporalis muscle. [GOC:TermGenie]"} {"concept_id": "C4073227", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of zygomaticus major muscle", "definition": "An abnormality of a zygomaticus major muscle. [GOC:TermGenie]"} {"concept_id": "C4073228", "aliases": ["Abnormality of inside lining of cheek", "Abnormality of cheek mucosa"], "types": ["T190"], "canonical_name": "Abnormality of buccal mucosa", "definition": "An abnormality of a buccal mucosa. [GOC:TermGenie]"} {"concept_id": "C4073229", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of zygomaticus minor muscle", "definition": "An abnormality of a zygomaticus minor muscle. [GOC:TermGenie]"} {"concept_id": "C4073230", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of buccal fat pad", "definition": "An abnormality of a buccal fat pad. [GOC:TermGenie]"} {"concept_id": "C4073231", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of cartilage of external ear", "definition": "An abnormality of a cartilage of external ear. [GOC:TermGenie]"} {"concept_id": "C4073232", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of angular artery", "definition": "An abnormality of the angular artery, the terminal branch of the facial artery. [GOC:TermGenie, ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073233", "aliases": ["Abnormality of facial artery"], "types": ["T190"], "canonical_name": "Abnormal facial artery morphology", "definition": "Any structural abnormality of a facial artery, one of the branches of the external carotid artery. [GOC:TermGenie, ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073234", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of ciliary ganglion", "definition": "An abnormality of a ciliary ganglion. [GOC:TermGenie]"} {"concept_id": "C4073236", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of buccinator muscle", "definition": "An abnormality of a buccinator muscle. [GOC:TermGenie]"} {"concept_id": "C4073237", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of depressor anguli oris muscle", "definition": "An abnormality of a depressor anguli oris muscle. [GOC:TermGenie]"} {"concept_id": "C4073238", "aliases": ["Abnormality of depressor labii inferioris muscle"], "types": ["T190"], "canonical_name": "Abnormality of depressor labii inferioris", "definition": "An abnormality of a depressor labii inferioris. [GOC:TermGenie]"} {"concept_id": "C4073239", "aliases": ["Abnormality of bony orbit of skull", "Abnormality of the bony eye socket", "Abnormality of bones of the orbit of the skull", "Abnormality of the orbital bones of skull"], "types": ["T190"], "canonical_name": "Abnormal morphology of bony orbit of skull", "definition": "An abnormality of an orbit of skull. [GOC:TermGenie]"} {"concept_id": "C4073240", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of central retinal artery", "definition": "An abnormality of a central retinal artery. [GOC:TermGenie]"} {"concept_id": "C4073241", "aliases": ["Abnormality of adenoids", "Abnormality of nasopharyngeal tonsil", "Abnormality of pharyngeal tonsil", "Abnormality of nasopharyngeal adenoids"], "types": ["T190"], "canonical_name": "Abnormal nasopharyngeal adenoid morphology", "definition": "Any abnormality of nasopharyngeal adenoids. []"} {"concept_id": "C4073242", "aliases": ["Abnormality of cartilage of septum of nose", "Malformation of cartilage of nasal septum", "Abnormality of cartilage of nasal septum", "Anomaly of cartilage of nasal septum", "Deformity of cartilage of nasal septum"], "types": ["T190"], "canonical_name": "Abnormality nasal septum cartilage morphology", "definition": "An abnormality of a cartilage of nasal septum. [GOC:TermGenie]"} {"concept_id": "C4073243", "aliases": [], "types": ["T019"], "canonical_name": "Abnormality of cervical plexus", "definition": "Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck. [ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073244", "aliases": ["Abnormality of blood vessel of head", "Abnormality of vasculature of head", "Abnormality of head blood vessel"], "types": ["T190"], "canonical_name": "Abnormality of head blood vessel", "definition": "An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head. [GOC:TermGenie, ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073245", "aliases": ["Abnormality of the vasculature of the neck", "Abnormality of neck blood vessel", "Abnormality of the cervical blood vessels", "Abnormality of the cervical vasculature", "Abnormality of blood vessel of neck"], "types": ["T190"], "canonical_name": "Abnormal neck blood vessel morphology", "definition": "An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck. [GOC:TermGenie, ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073246", "aliases": ["Abnormality of cricoid cartilage"], "types": ["T190"], "canonical_name": "Abnormal cricoid cartilage morphology", "definition": "Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx. [GOC:TermGenie]"} {"concept_id": "C4073247", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of dorsal nasal artery", "definition": "An abnormality of a dorsal nasal artery. [GOC:TermGenie]"} {"concept_id": "C4073248", "aliases": ["Abnormality of ethmoidal air cells"], "types": ["T190"], "canonical_name": "Abnormality of ethmoid sinus", "definition": "An abnormality of an ethmoid sinus. [GOC:TermGenie]"} {"concept_id": "C4073249", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of external carotid artery", "definition": "An abnormality of an external carotid artery. [GOC:TermGenie]"} {"concept_id": "C4073250", "aliases": ["Abnormality of jugular vein"], "types": ["T190"], "canonical_name": "Abnormal jugular vein morphology", "definition": "Any structural abnormality of a jugular vein. [GOC:TermGenie]"} {"concept_id": "C4073251", "aliases": ["Abnormality of facial vein", "Abnormal vein of face"], "types": ["T190"], "canonical_name": "Abnormal facial vein morphology", "definition": "An abnormality of a facial vein. [GOC:TermGenie]"} {"concept_id": "C4073252", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of frontal process of maxilla", "definition": "An abnormality of a frontal process of the maxilla bone. [GOC:TermGenie, ORCID:0000-0001-5889-4463]"} {"concept_id": "C4073253", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of genioglossus muscle", "definition": "An abnormality of a genioglossus muscle. [GOC:TermGenie]"} {"concept_id": "C4073254", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of geniohyoid muscle", "definition": "An abnormality of a geniohyoid muscle. [GOC:TermGenie]"} {"concept_id": "C4073255", "aliases": ["Abnormality of glossopharyngeal nerve"], "types": ["T190"], "canonical_name": "Abnormal glossopharyngeal nerve morphology", "definition": "Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX). [GOC:TermGenie]"} {"concept_id": "C4073256", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal great auricular nerve morphology", "definition": "Any structural anomaly of a great auricular nerve. [GOC:TermGenie, PMID:26504711]"} {"concept_id": "C4073257", "aliases": ["Abnormality of greater palatine artery"], "types": ["T190"], "canonical_name": "Abnormal greater palatine artery morphology", "definition": "An abnormality of a greater palatine artery. [GOC:TermGenie]"} {"concept_id": "C4073258", "aliases": ["Abnormality of hard tissues of teeth", "Abnormality of tooth hard tissue", "Abnormality of odontoid tissue"], "types": ["T190"], "canonical_name": "Abnormal odontoid tissue morphology", "definition": "An abnormality of an odontoid tissue. [GOC:TermGenie]"} {"concept_id": "C4073259", "aliases": ["Abnormality of hyoglossus muscle"], "types": ["T190"], "canonical_name": "Abnormal hyoglossus muscle morphology", "definition": "An abnormality of a hyoglossus muscle. [GOC:TermGenie]"} {"concept_id": "C4073260", "aliases": ["Abnormality of hyoid bone"], "types": ["T190"], "canonical_name": "Abnormal hyoid bone morphology", "definition": "Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra. [PMID:30969548]"} {"concept_id": "C4073261", "aliases": ["Abnormality of lower pharynx", "Abnormality of hypopharynx"], "types": ["T190"], "canonical_name": "Abnormal hypopharynx morphology", "definition": "A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus. [GOC:TermGenie, HPO:probinson]"} {"concept_id": "C4073262", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of inferior alveolar artery", "definition": "An abnormality of an inferior alveolar artery. [GOC:TermGenie]"} {"concept_id": "C4073263", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of inferior alveolar nerve", "definition": "An abnormality of an inferior alveolar nerve. [GOC:TermGenie]"} {"concept_id": "C4073264", "aliases": ["Abnormality of the inferior labial artery"], "types": ["T190"], "canonical_name": "Abnormality of artery of lower lip", "definition": "An abnormality of an artery of lower lip. [GOC:TermGenie]"} {"concept_id": "C4073265", "aliases": ["Abnormality of the inferior oblique muscle"], "types": ["T190"], "canonical_name": "Abnormality of inferior oblique extraocular muscle", "definition": "An abnormality of an inferior oblique extraocular muscle. [GOC:TermGenie]"} {"concept_id": "C4073266", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of inferior rectus extraocular muscle", "definition": "An abnormality of an inferior rectus extraocular muscle. [GOC:TermGenie]"} {"concept_id": "C4073267", "aliases": ["Abnormality of inferior thyroid vein"], "types": ["T190"], "canonical_name": "Abnormal inferior thyroid vein morphology", "definition": "An abnormality of an inferior thyroid vein. [GOC:TermGenie]"} {"concept_id": "C4073268", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of infraorbital artery", "definition": "An abnormality of an infraorbital artery. [GOC:TermGenie]"} {"concept_id": "C4073269", "aliases": ["Abnormality of the infraorbital nerve"], "types": ["T190"], "canonical_name": "Abnormality of infra-orbital nerve", "definition": "A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal. [GOC:TermGenie, PMID:26564432]"} {"concept_id": "C4073270", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of internal jugular vein", "definition": "An abnormality of an internal jugular vein. [GOC:TermGenie]"} {"concept_id": "C4073271", "aliases": ["Abnormality of intrinsic lingual muscle"], "types": ["T190"], "canonical_name": "Abnormality of intrinsic muscle of tongue", "definition": "An abnormality of an intrinsic muscle of tongue. [GOC:TermGenie]"} {"concept_id": "C4073272", "aliases": ["Abnormality of lacrimal artery"], "types": ["T190"], "canonical_name": "Abnormal lacrimal artery morphology", "definition": "An abnormality of a lacrimal artery. [GOC:TermGenie]"} {"concept_id": "C4073273", "aliases": ["Abnormality of lacrimal sac"], "types": ["T190"], "canonical_name": "Abnormal lacrimal sac morphology", "definition": "An abnormality of a lacrimal sac. [GOC:TermGenie]"} {"concept_id": "C4073274", "aliases": ["Abnormal anterior cricoarytenoid muscle morphology", "Abnormality of lateral cricoarytenoid muscle", "Abnormality of lateral crico-arytenoid"], "types": ["T190"], "canonical_name": "Abnormal lateral cricoarytenoid muscle morphology", "definition": "Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway. [GOC:TermGenie]"} {"concept_id": "C4073275", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of lateral pterygoid muscle", "definition": "An abnormality of a lateral pterygoid muscle. [GOC:TermGenie]"} {"concept_id": "C4073276", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of lateral rectus extra-ocular muscle", "definition": "An abnormality of a lateral rectus extra-ocular muscle. [GOC:TermGenie]"} {"concept_id": "C4073277", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of levator anguli oris", "definition": "An abnormality of a levator anguli oris. [GOC:TermGenie]"} {"concept_id": "C4073278", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of levator labii superioris", "definition": "An abnormality of a levator labii superioris. [GOC:TermGenie]"} {"concept_id": "C4073279", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal levator palpebrae superioris morphology", "definition": "An abnormality of a levator palpebrae superioris. [GOC:TermGenie]"} {"concept_id": "C4073280", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of levator veli palatini muscle", "definition": "An abnormality of a levator veli palatini. [GOC:TermGenie]"} {"concept_id": "C4073281", "aliases": ["Abnormality of lingual artery"], "types": ["T190"], "canonical_name": "Abnormal lingual artery morphology", "definition": "Any structural abnormality of a lingual artery. [GOC:TermGenie]"} {"concept_id": "C4073282", "aliases": ["Abnormality of lingual nerve"], "types": ["T190"], "canonical_name": "Abnormal lingual nerve morphology", "definition": "Any structural anomaly of a lingual nerve. [GOC:TermGenie, PMID:27662622]"} {"concept_id": "C4073283", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of lingual tonsil", "definition": "An abnormality of a lingual tonsil. [GOC:TermGenie]"} {"concept_id": "C4073284", "aliases": ["Abnormality of mandible condylar process"], "types": ["T190"], "canonical_name": "Abnormal mandible condylar process morphology", "definition": "An abnormality of a mandible condylar process. [GOC:TermGenie]"} {"concept_id": "C4073285", "aliases": ["Abnormality of mandible coronoid process"], "types": ["T190"], "canonical_name": "Abnormal mandible coronoid process morphology", "definition": "An abnormality of a mandible coronoid process. [GOC:TermGenie]"} {"concept_id": "C4073286", "aliases": ["Abnormality of mandible symphysis"], "types": ["T190"], "canonical_name": "Abnormal mandibular symphysis morphology", "definition": "A structural abnormality of a mandibular symphysis. [GOC:TermGenie]"} {"concept_id": "C4073287", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of anterior ethmoidal artery", "definition": "An abnormality of an anterior ethmoidal artery. [GOC:TermGenie]"} {"concept_id": "C4073288", "aliases": ["Increased proportion of CD19+CD27+IgD- cells"], "types": ["T033"], "canonical_name": "Increased proportion of class-switched memory B cells", "definition": "An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. [HPO:probinson]"} {"concept_id": "C4073289", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal morphology of myocardial trabeculae", "definition": "Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). []"} {"concept_id": "C4073290", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of hair volume"} {"concept_id": "C4073292", "aliases": [], "types": ["T033"], "canonical_name": "Afro-textured hair"} {"concept_id": "C4073295", "aliases": [], "types": ["T033"], "canonical_name": "Decreased levels of alpha-fetoprotein", "definition": "A decrease in the concentration of alpha-fetoprotein in the blood circulation. []"} {"concept_id": "C4082144", "aliases": [], "types": ["T190"], "definition": "A foot anomaly in which the forefoot is angled outward relative to the hindfoot.", "canonical_name": "Metatarsus valgus"} {"concept_id": "C4082168", "aliases": ["Partial duplication of the thumb bones", "Partial duplication of thumb phalanx", "Notching of thumb phalanges", "Bifid thumb"], "types": ["T190"], "definition": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:probinson]", "canonical_name": "Partial duplication of the phalanges of the thumb"} {"concept_id": "C4082169", "aliases": ["Metatarsus adductus", "Metatarsus varus", "Metatarsus adductovarsus", "Forefoot varus"], "types": ["T190"], "definition": "A foot anomaly in which the forefoot (METATARSUS) is angled inward relative to the heel.", "canonical_name": "Front half of foot turns inward"} {"concept_id": "C4082172", "aliases": ["Cavity within brain"], "types": ["T047"], "definition": "A congenital or acquired cystic cavity within the cerebral hemisphere.", "canonical_name": "Porencephalic cyst"} {"concept_id": "C4082185", "aliases": [], "types": ["T190"], "definition": "A benign fluid filled simple cyst of bone filled with serous fluid. [HPO:probinson]", "canonical_name": "Unicameral bone cyst"} {"concept_id": "C4082198", "aliases": ["Agenesis of cartilage of nose", "Failure of development of cartilage of nose", "Absent nasal cartilage", "Agenesis of nasal cartilage"], "types": ["T019"], "canonical_name": "Failure of development of nasal cartilage"} {"concept_id": "C4082199", "aliases": ["Transient decrease in blood erythrocyte number"], "types": ["T033"], "canonical_name": "Transient erythroblastopenia", "definition": "A transient reduction in the number of erythroblasts in the circulation. [HPO:probinson]"} {"concept_id": "C4082200", "aliases": ["Rootless teeth", "Absence of tooth root", "Agenesis of tooth root", "Aplasia of tooth root", "Missing tooth root"], "types": ["T033"], "canonical_name": "Teeth without roots"} {"concept_id": "C4082201", "aliases": ["Deviation of the mandible", "Deviation of mandible", "Canted mandible", "Tilted lower jaw", "Deviation of the lower jaw", "Tilted mandible", "Crooked lower jaw", "Canted lower jaw"], "types": ["T190"], "canonical_name": "Deviation of lower jaw"} {"concept_id": "C4082243", "aliases": ["Retrognathia of upper jaw"], "types": ["T033"], "canonical_name": "Maxillary retrognathia"} {"concept_id": "C4082245", "aliases": ["Cheekbone excess", "Zygomatic bone excess"], "types": ["T033"], "canonical_name": "Zygomatic hypertrophy"} {"concept_id": "C4082299", "aliases": ["Bulbar palsy"], "types": ["T047"], "definition": "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. [HPO:curators]", "canonical_name": "Bulbar palsies"} {"concept_id": "C4082304", "aliases": ["Oligodontia", "Failure of development of more than six teeth"], "types": ["T019"], "definition": "The absence of six or more teeth from the normal series by a failurento develop. [PMID:19125428, PMID:31468724]", "canonical_name": "Partial anodontia"} {"concept_id": "C4082761", "aliases": ["Arm and/or leg bone differences", "Limb abnormality", "Abnormal shape of limb bone"], "types": ["T190"], "canonical_name": "Abnormality of limb bone morphology", "definition": "Any abnormality of bones of the arms or legs. [HPO:probinson]"} {"concept_id": "C4082764", "aliases": [], "types": ["T047"], "definition": "invasion and growth of microorganisms in the gastrointestinal system; may be clinically inapparent or result in local cellular injury.", "canonical_name": "Gastrointestinal infections"} {"concept_id": "C4082933", "aliases": ["Allergy to animal proteins"], "types": ["T046"], "definition": "An allergic reaction triggered by exposure to animal-associated allergens, includes allergenic factors in venom, saliva and dander.", "canonical_name": "Animal protein allergy"} {"concept_id": "C4082951", "aliases": ["Progressive spinal muscle wasting", "Progressive spinal muscle degeneration"], "types": ["T047"], "canonical_name": "Progressive spinal muscular atrophy", "definition": "group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts."} {"concept_id": "C4082952", "aliases": ["Unilateral pulmonary agenesis"], "types": ["T019"], "canonical_name": "Unilateral lung agenesis", "definition": "Lack of development of one lung. []"} {"concept_id": "C4082954", "aliases": ["Underdeveloped right heart chamber", "Heart right ventricle hypoplasia", "Small right heart chamber"], "types": ["T190"], "definition": "Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells. [MP:0010422]", "canonical_name": "Hypoplasia of right ventricle"} {"concept_id": "C4083046", "aliases": ["Missing upper lateral incisor", "Absence of maxillary lateral incisor", "Absence of upper lateral incisor", "Missing maxillary lateral incisor"], "types": ["T033"], "canonical_name": "Absent upper lateral incisors"} {"concept_id": "C4083076", "aliases": [], "types": ["T033"], "definition": "An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. []", "canonical_name": "Increased head circumference"} {"concept_id": "C4083212", "aliases": [], "types": ["T047"], "canonical_name": "Male pattern baldness"} {"concept_id": "C4083290", "aliases": ["Missing front tooth", "Absence of front tooth"], "types": ["T033"], "canonical_name": "Missing incisors"} {"concept_id": "C4084859", "aliases": ["Peribronchial cuffing", "Peribronchial thickening"], "types": ["T033"], "definition": "A radiologic finding that describes haziness around a bronchus or large bronchiole seen end on. It may either represent bronchial wall thickening or fluid around the bronchi.", "canonical_name": "Bronchial wall thickening"} {"concept_id": "C4085590", "aliases": ["Cone rod dystrophy", "Cone-rod retinal dystrophy"], "types": ["T047"], "definition": "Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness.", "canonical_name": "Cone/cone-rod dystrophy"} {"concept_id": "C4087488", "aliases": ["Non-alcoholic fatty pancreatic disease", "Pancreatic fatty infiltration", "Pancreatic steatosis", "Pancreatic lipomatosis", "Fatty pancreas", "Pancreatic lipomatous pseudohypertrophy"], "types": ["T047"], "definition": "Fat infiltration in the pancreas. [PMID:32490903]", "canonical_name": "Pancreatic fatty replacement"} {"concept_id": "C4227331", "aliases": ["Myocyte cellular hypertrophy"], "types": ["T033"], "canonical_name": "Cardiomyocyte hypertrophy", "definition": "An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. [PMID:15066961, PMID:7626345]"} {"concept_id": "C4227503", "aliases": [], "types": ["T033"], "canonical_name": "Early sleep onset"} {"concept_id": "C4227831", "aliases": ["Missing lateral incisor"], "types": ["T033"], "canonical_name": "Absence of lateral incisor"} {"concept_id": "C4227845", "aliases": ["Metaphase I oocyte meiotic arrest", "Oocyte meiotic arrest at metaphase I"], "types": ["T049"], "canonical_name": "Oocyte arrest at metaphase I", "definition": "Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. [PMID:27273344, PMID:32473092]"} {"concept_id": "C4228227", "aliases": [], "types": ["T033"], "canonical_name": "Small thymus"} {"concept_id": "C4228778", "aliases": ["Radial ray abnormality", "Radial ray deformity", "Radial ray anomaly", "Deformity of radial ray"], "types": ["T190"], "canonical_name": "Abnormality of radial ray"} {"concept_id": "C4228933", "aliases": ["Limited mandibular mobility", "Limited jaw movement", "Decrease in jaw movement", "Decrease in jaw mobility", "Decrease in mandibular mobility", "Decrease in mandibular movement"], "types": ["T033"], "canonical_name": "Limited jaw mobility"} {"concept_id": "C4229071", "aliases": ["Dilatation of intrahepatic biliary ducts"], "types": ["T190"], "canonical_name": "Intrahepatic bile duct dilatation", "definition": "Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). [PMID:32386558]"} {"concept_id": "C4229090", "aliases": ["Small facial bones", "Decreased size of facial skeleton", "Small facial skeleton"], "types": ["T033"], "canonical_name": "Decreased size of facial bones"} {"concept_id": "C4229297", "aliases": ["Bilateral fifth digit clinodactyly"], "types": ["T019"], "canonical_name": "Bilateral fifth finger clinodactyly"} {"concept_id": "C4229565", "aliases": ["Loss in colour vision"], "types": ["T033"], "canonical_name": "Loss in color vision"} {"concept_id": "C4230397", "aliases": [], "types": ["T033"], "canonical_name": "Spindle-shaped finger", "definition": "Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base). []"} {"concept_id": "C4230625", "aliases": ["Decreased CMAP amplitude"], "types": ["T033"], "canonical_name": "Decreased compound muscle action potential amplitude", "definition": "Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve. [PMID:15961865]"} {"concept_id": "C4230640", "aliases": ["Convex bridge of nose"], "types": ["T033"], "canonical_name": "Convex nasal bridge"} {"concept_id": "C4230697", "aliases": ["Pectus excavatum or pectus carinatum", "Pectus excavatum or carinatum", "Pectus excavatum/carinatum"], "types": ["T019"], "canonical_name": "Pectus carinatum or pectus excavatum"} {"concept_id": "C4231308", "aliases": ["5th finger camptodactyly"], "types": ["T190"], "canonical_name": "Fifth finger camptodactyly"} {"concept_id": "C4255098", "aliases": ["Snake tongue", "Cleft tongue"], "types": ["T190"], "canonical_name": "Forked tongue"} {"concept_id": "C4255213", "aliases": ["Megacephaly", "Big skull", "Large skull"], "types": ["T033"], "canonical_name": "Increased size of skull"} {"concept_id": "C4255214", "aliases": [], "types": ["T190"], "canonical_name": "Fusion of foot joint"} {"concept_id": "C4255215", "aliases": ["Dysplastic tricuspid valve"], "types": ["T019"], "definition": "A congenital malformation of the tricuspid valve characterized by leaflet deformation. [HPO:probinson, PMID:2007717, PMID:26059011, UToronto:chum]", "canonical_name": "Tricuspid valve dysplasia"} {"concept_id": "C4255334", "aliases": ["Decreased level of thrombomodulin"], "types": ["T033"], "definition": "Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot []", "canonical_name": "BDCA-3"} {"concept_id": "C4272579", "aliases": ["Albers-Schoenberg disease", "Albers-Schonberg disease"], "types": ["T047"], "definition": "An autosomal dominant form of osteopetrosis due to mutation(s) in the CLCN7 gene, encoding H(+)/Cl(-) exchange transporter 7. Clinical features include sclerosis involving the spine, the pelvis, and the base of the skull. Complications can include optic nerve compression, dental abscesses, anemia, and bone fragility. One third of individuals who carry a CLCN7 mutation have a normal skeletal phenotype.", "canonical_name": "Albers-Sch\u00f6nberg disease"} {"concept_id": "C4273756", "aliases": [], "types": ["T047"], "definition": "A rare disorder with characteristics of sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding. Most commonly, the condition is detected in investigating a fortuitous finding of hypersplenism or splenomegaly. Main histopathologic findings are periportal fibrosis, occlusion of small portal veins, sclerosis of the portal venous system, and proliferation of small vascular channels within/around portal tracts. The disease is slowly progressive. Exposure to toxic substances or drugs, autoimmune and connective tissue diseases, systemic or intraabdominal infections, and clotting abnormalities have been incriminated. A genetic background has been suggested.", "canonical_name": "Obliterative portal venopathy"} {"concept_id": "C4274331", "aliases": [], "types": ["T047"], "definition": "The most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis. Clinical characteristics are yellowish waxy-crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia. Histological characteristics are the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis.", "canonical_name": "Cutaneous nodular amyloidosis"} {"concept_id": "C4280251", "aliases": ["Missing a tooth"], "types": ["T033"], "canonical_name": "Absence of a tooth"} {"concept_id": "C4280252", "aliases": ["Diastema between upper incisors", "Diastema between upper front teeth"], "types": ["T033"], "canonical_name": "Diastema between maxillary central incisors"} {"concept_id": "C4280253", "aliases": [], "types": ["T190"], "canonical_name": "Increased porosity of tooth enamel"} {"concept_id": "C4280254", "aliases": [], "types": ["T033"], "canonical_name": "Sclerosis of spinal bone"} {"concept_id": "C4280255", "aliases": [], "types": ["T033"], "canonical_name": "Agenesis of upper eyelashes"} {"concept_id": "C4280256", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic paranasal sinus"} {"concept_id": "C4280257", "aliases": ["Absence of twelve year molar", "Missing twelve year molar", "Missing second permanent molar"], "types": ["T033"], "canonical_name": "Absence of second permanent molar"} {"concept_id": "C4280258", "aliases": ["Uneven head shape"], "types": ["T033"], "canonical_name": "Asymmetry of head"} {"concept_id": "C4280259", "aliases": ["True pulp stones"], "types": ["T033"], "canonical_name": "True denticles"} {"concept_id": "C4280260", "aliases": ["Abnormality of the shape of skull bones"], "types": ["T190"], "canonical_name": "Abnormality of skull bone morphology"} {"concept_id": "C4280262", "aliases": [], "types": ["T190"], "canonical_name": "Dystrophic tooth enamel"} {"concept_id": "C4280263", "aliases": ["Increased size of permanent upper central incisor", "Large permanent maxillary central incisor", "Large permanent upper central incisor"], "types": ["T033"], "canonical_name": "Increased size of permanent maxillary central incisor"} {"concept_id": "C4280264", "aliases": [], "types": ["T046"], "canonical_name": "Premature plaque build-up in arteries"} {"concept_id": "C4280265", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of frontal sinus"} {"concept_id": "C4280266", "aliases": [], "types": ["T033"], "canonical_name": "Soft teeth"} {"concept_id": "C4280267", "aliases": ["Spider veins of the roof of the mouth"], "types": ["T033"], "canonical_name": "Palatal spider veins"} {"concept_id": "C4280268", "aliases": ["Underdevelopment of facial skeleton"], "types": ["T033"], "canonical_name": "Underdevelopment of facial bones"} {"concept_id": "C4280269", "aliases": [], "types": ["T191"], "canonical_name": "Noncancerous mole"} {"concept_id": "C4280270", "aliases": [], "types": ["T033"], "canonical_name": "Short lower eyelid"} {"concept_id": "C4280271", "aliases": [], "types": ["T190"], "canonical_name": "Distortion of the nasal tip"} {"concept_id": "C4280272", "aliases": ["Increased projection of upper jaw"], "types": ["T033"], "canonical_name": "Increased projection of maxilla"} {"concept_id": "C4280273", "aliases": ["Hypertrophy of upper jaw"], "types": ["T033"], "canonical_name": "Hypertrophy of maxilla"} {"concept_id": "C4280274", "aliases": ["Small eyelid", "Short eyelid"], "types": ["T190"], "canonical_name": "Decreased size of eyelid"} {"concept_id": "C4280275", "aliases": [], "types": ["T190"], "canonical_name": "Double eyelid"} {"concept_id": "C4280276", "aliases": [], "types": ["T033"], "canonical_name": "Cleft alveolar process of maxilla"} {"concept_id": "C4280277", "aliases": ["Missing lower front tooth"], "types": ["T033"], "canonical_name": "Absence of lower front tooth"} {"concept_id": "C4280278", "aliases": ["Missing upper incisor"], "types": ["T033"], "canonical_name": "Absence of maxillary incisor"} {"concept_id": "C4280279", "aliases": ["Missing upper front tooth"], "types": ["T033"], "canonical_name": "Absence of upper front tooth"} {"concept_id": "C4280280", "aliases": ["Missing deciduous mandibular lateral incisor", "Missing primary mandibular lateral incisor", "Absence of primary mandibular lateral incisor"], "types": ["T033"], "canonical_name": "Absence of deciduous mandibular lateral incisor"} {"concept_id": "C4280281", "aliases": [], "types": ["T033"], "canonical_name": "Absence of lower front baby tooth"} {"concept_id": "C4280282", "aliases": ["Absence of permanent mandibular lateral incisor", "Missing permanent mandibular lateral incisor", "Missing adult lower lateral incisor"], "types": ["T033"], "canonical_name": "Absence of adult mandibular lateral incisor"} {"concept_id": "C4280283", "aliases": ["Missing mandibular lateral incisor", "Missing lower lateral incisor", "Absence of mandibular lateral incisor"], "types": ["T033"], "canonical_name": "Absence of lower lateral incisor"} {"concept_id": "C4280284", "aliases": [], "types": ["T033"], "canonical_name": "Small, pointed teeth"} {"concept_id": "C4280285", "aliases": [], "types": ["T190"], "canonical_name": "Small, peg shaped teeth"} {"concept_id": "C4280286", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal size of the eyes"} {"concept_id": "C4280287", "aliases": ["Hyperplasia of half of the tongue"], "types": ["T033"], "canonical_name": "Hemiglossal hyperplasia"} {"concept_id": "C4280288", "aliases": [], "types": ["T033"], "canonical_name": "Red and sore lips"} {"concept_id": "C4280289", "aliases": [], "types": ["T033"], "canonical_name": "Lesion of oral cavity"} {"concept_id": "C4280290", "aliases": ["Adenoids small or absent"], "types": ["T033"], "canonical_name": "Aplastic/Hypoplastic nasopharyngeal adenoids", "definition": "Absence or underdevelopment of the nasopharyngeal adenoids. []"} {"concept_id": "C4280291", "aliases": [], "types": ["T033"], "canonical_name": "Nappy scalp hair texture"} {"concept_id": "C4280292", "aliases": [], "types": ["T033"], "canonical_name": "Kinky scalp hair texture"} {"concept_id": "C4280293", "aliases": [], "types": ["T033"], "canonical_name": "Afro-textured scalp hair"} {"concept_id": "C4280294", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia of upper eyelashes"} {"concept_id": "C4280295", "aliases": [], "types": ["T033"], "canonical_name": "Curvature of ring finger"} {"concept_id": "C4280296", "aliases": [], "types": ["T033"], "canonical_name": "Curvature of middle finger"} {"concept_id": "C4280297", "aliases": [], "types": ["T033"], "canonical_name": "Curvature of thumb"} {"concept_id": "C4280298", "aliases": [], "types": ["T033"], "canonical_name": "Curvature of finger"} {"concept_id": "C4280299", "aliases": [], "types": ["T033"], "canonical_name": "Curvature of big toe"} {"concept_id": "C4280300", "aliases": [], "types": ["T033"], "canonical_name": "Missing facial bones"} {"concept_id": "C4280301", "aliases": [], "types": ["T033"], "canonical_name": "Failure of development of facial skeleton"} {"concept_id": "C4280302", "aliases": [], "types": ["T033"], "canonical_name": "Arc-shaped blind spot"} {"concept_id": "C4280303", "aliases": [], "types": ["T033"], "canonical_name": "Dystonia tremor"} {"concept_id": "C4280304", "aliases": [], "types": ["T033"], "canonical_name": "Curvature of digit"} {"concept_id": "C4280305", "aliases": [], "types": ["T033"], "canonical_name": "Kabuki syndrome eyelids"} {"concept_id": "C4280306", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of neck muscles"} {"concept_id": "C4280307", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of facial muscles"} {"concept_id": "C4280308", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophy of paranasal tissue"} {"concept_id": "C4280309", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of paranasal tissue"} {"concept_id": "C4280310", "aliases": [], "types": ["T033"], "canonical_name": "Thin lower face"} {"concept_id": "C4280311", "aliases": ["Missing canine", "Absence of eye tooth", "Missing eye tooth"], "types": ["T033"], "canonical_name": "Absence of canine"} {"concept_id": "C4280313", "aliases": ["Temporomandibular joint popping sound"], "types": ["T033"], "canonical_name": "Jaw joint popping sound"} {"concept_id": "C4280314", "aliases": ["Temporomandibular joint grating sound"], "types": ["T033"], "canonical_name": "Jaw joint grating sound"} {"concept_id": "C4280315", "aliases": ["Temporomandibular joint clicking sound"], "types": ["T033"], "canonical_name": "Jaw joint clicking sound"} {"concept_id": "C4280316", "aliases": ["Missing some primary teeth", "Missing some milk teeth", "Fewer deciduous teeth than normal", "Decreased number of deciduous teeth", "Fewer baby teeth than normal", "Missing some baby teeth", "Decreased number of primary teeth", "Decreased number of milk teeth", "Fewer primary teeth than normal"], "types": ["T033"], "canonical_name": "Decreased number of baby teeth"} {"concept_id": "C4280317", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal bone maturation"} {"concept_id": "C4280318", "aliases": [], "types": ["T033"], "canonical_name": "Indented bridge of nose"} {"concept_id": "C4280319", "aliases": [], "types": ["T190"], "canonical_name": "Cleft nasal bridge"} {"concept_id": "C4280320", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic midface"} {"concept_id": "C4280321", "aliases": [], "types": ["T033"], "canonical_name": "Decreased projection of midface"} {"concept_id": "C4280322", "aliases": [], "types": ["T190"], "canonical_name": "Bulging of eye lens"} {"concept_id": "C4280323", "aliases": [], "types": ["T019"], "canonical_name": "Unilateral nanophthalmos"} {"concept_id": "C4280324", "aliases": [], "types": ["T033"], "canonical_name": "Myoclonus of facial muscles"} {"concept_id": "C4280325", "aliases": ["Muscle spasm of face"], "types": ["T033"], "canonical_name": "Involuntary facial muscle spasms"} {"concept_id": "C4280326", "aliases": ["Foetal pinky finger curvature", "Fetal pinkie finger curvature", "Fetal pinky finger curvature", "Foetal little finger curvature", "Foetal pinkie finger curvature"], "types": ["T019"], "canonical_name": "Fetal little finger curvature"} {"concept_id": "C4280327", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplasia of depressor angula oris muscle"} {"concept_id": "C4280328", "aliases": [], "types": ["T033"], "canonical_name": "Positional frontal plagiocephaly"} {"concept_id": "C4280329", "aliases": [], "types": ["T033"], "canonical_name": "Deformational anterior plagiocephaly"} {"concept_id": "C4280330", "aliases": [], "types": ["T033"], "canonical_name": "Coronal synostosis"} {"concept_id": "C4280331", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal shape/structure of ear"} {"concept_id": "C4280332", "aliases": ["Crooked nasal dorsum", "Crooked nasal ridge"], "types": ["T033"], "canonical_name": "Crooked dorsum of nose"} {"concept_id": "C4280333", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent sinus disease"} {"concept_id": "C4280334", "aliases": ["Increased size of premolar"], "types": ["T033"], "canonical_name": "Enlarged premolar"} {"concept_id": "C4280335", "aliases": [], "types": ["T033"], "canonical_name": "Extra cusp on inside of front tooth"} {"concept_id": "C4280336", "aliases": [], "types": ["T033"], "canonical_name": "Soft tooth enamel"} {"concept_id": "C4280337", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of incisor"} {"concept_id": "C4280338", "aliases": [], "types": ["T190"], "canonical_name": "Buried tooth"} {"concept_id": "C4280339", "aliases": ["Localised dysplasia of tooth enamel"], "types": ["T033"], "canonical_name": "Localized dysplasia of tooth enamel"} {"concept_id": "C4280340", "aliases": ["Midline supernumary tooth", "Extra tooth in the midline"], "types": ["T190"], "canonical_name": "Median supernumary tooth"} {"concept_id": "C4280341", "aliases": [], "types": ["T033"], "canonical_name": "Pointed front tooth"} {"concept_id": "C4280342", "aliases": [], "types": ["T033"], "canonical_name": "Peg shaped front tooth"} {"concept_id": "C4280343", "aliases": ["Malposition of incisors"], "types": ["T033"], "canonical_name": "Abnormality of position of incisors"} {"concept_id": "C4280344", "aliases": ["Localised gum disease", "Localized gum disease"], "types": ["T047"], "canonical_name": "Limited area of gum disease"} {"concept_id": "C4280345", "aliases": ["Generalised gum disease", "Widespread gum disease"], "types": ["T047"], "canonical_name": "Generalized gum disease"} {"concept_id": "C4280346", "aliases": ["Missing six year molar", "Missing first permanent molar", "Absence of six year molar"], "types": ["T033"], "canonical_name": "Absence of first permanent molar"} {"concept_id": "C4280347", "aliases": ["Absence of permanent molar", "Missing permanent molar", "Missing adult molar"], "types": ["T033"], "canonical_name": "Absence of adult molar"} {"concept_id": "C4280348", "aliases": ["Missing molar"], "types": ["T033"], "canonical_name": "Absence of molar"} {"concept_id": "C4280349", "aliases": ["Missing mandibular premolar", "Missing lower premolar", "Absence of mandibular premolar"], "types": ["T033"], "canonical_name": "Absence of lower premolar"} {"concept_id": "C4280350", "aliases": ["Missing upper bicuspid", "Absence of maxillary premolar", "Absence of upper premolar", "Missing upper premolar", "Missing maxillary premolar"], "types": ["T033"], "canonical_name": "Absence of maxillary bicuspid"} {"concept_id": "C4280351", "aliases": ["Missing premolar", "Absence of premolar", "Missing bicuspid"], "types": ["T033"], "canonical_name": "Absence of bicuspid"} {"concept_id": "C4280352", "aliases": ["Missing permanent upper lateral incisor", "Missing permanent maxillary lateral incisor"], "types": ["T033"], "canonical_name": "Absence of permanent maxillary lateral incisor"} {"concept_id": "C4280353", "aliases": ["Missing primary maxillary lateral incisor", "Absence of primary maxillary lateral incisor", "Missing deciduous maxillary lateral incisor"], "types": ["T033"], "canonical_name": "Absence of deciduous maxillary lateral incisor"} {"concept_id": "C4280354", "aliases": ["Missing permanent lower front tooth", "Missing adult lower central incisor", "Absence of permanent lower front tooth", "Absence of permanent mandibular central incisor", "Missing permanent lower central incisor", "Missing permanent mandibular central incisor"], "types": ["T033"], "canonical_name": "Absence of permanent lower central incisor"} {"concept_id": "C4280355", "aliases": ["Missing lower central incisor milk tooth", "Missing primary mandibular central incisor", "Missing deciduous mandibular central incisor", "Absence of primary mandibular central incisor"], "types": ["T033"], "canonical_name": "Absence of deciduous mandibular central incisor"} {"concept_id": "C4280356", "aliases": ["Missing lower front milk tooth", "Missing lower front primary tooth"], "types": ["T033"], "canonical_name": "Missing lower front baby tooth"} {"concept_id": "C4280357", "aliases": ["Missing upper front baby tooth", "Absence of primary maxillary central incisor", "Missing primary maxillary central incisor", "Absence of upper front baby tooth", "Missing upper front milk tooth", "Missing deciduous maxillary central incisor"], "types": ["T033"], "canonical_name": "Absence of deciduous maxillary central incisor"} {"concept_id": "C4280358", "aliases": ["Missing permanent upper front tooth"], "types": ["T033"], "canonical_name": "Absence of permanent upper front tooth"} {"concept_id": "C4280359", "aliases": ["Missing adult upper central incisor", "Missing permanent upper central incisor", "Absence of permanent upper central incisor", "Missing permanent maxillary central incisor"], "types": ["T033"], "canonical_name": "Absence of permanent maxillary central incisor"} {"concept_id": "C4280360", "aliases": [], "types": ["T033"], "canonical_name": "Malformation of the external nose"} {"concept_id": "C4280361", "aliases": ["Distortion of the nasal skeleton"], "types": ["T190"], "canonical_name": "Distortion of the bones of the nose"} {"concept_id": "C4280362", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of uvula"} {"concept_id": "C4280363", "aliases": [], "types": ["T033"], "canonical_name": "Drooping upper lip"} {"concept_id": "C4280364", "aliases": [], "types": ["T033"], "canonical_name": "Ala higher than columella"} {"concept_id": "C4280365", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of columella"} {"concept_id": "C4280366", "aliases": [], "types": ["T033"], "canonical_name": "Malformation of the temporomandibular joint"} {"concept_id": "C4280367", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal maturation of foot bones"} {"concept_id": "C4280368", "aliases": ["Hypotrophic zygomatic bone"], "types": ["T033"], "canonical_name": "Hypotrophic cheekbone"} {"concept_id": "C4280369", "aliases": [], "types": ["T033"], "canonical_name": "Flattening of the zygomatic bone"} {"concept_id": "C4280370", "aliases": ["Depressed zygomatic bone"], "types": ["T033"], "canonical_name": "Depressed cheekbone"} {"concept_id": "C4280371", "aliases": ["Missing upper jaw bones", "Absence of upper jaw bones"], "types": ["T033"], "canonical_name": "Absence of the maxilla"} {"concept_id": "C4280372", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic anterior nasal spine"} {"concept_id": "C4280373", "aliases": [], "types": ["T033"], "canonical_name": "Decreased length of anterior nasal spine"} {"concept_id": "C4280374", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of malar bones"} {"concept_id": "C4280375", "aliases": [], "types": ["T033"], "canonical_name": "Red bump on inner eyelid"} {"concept_id": "C4280376", "aliases": [], "types": ["T033"], "canonical_name": "Red bump on eyelid"} {"concept_id": "C4280377", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of femoral head development"} {"concept_id": "C4280378", "aliases": [], "types": ["T033"], "canonical_name": "Thickening of the scalp"} {"concept_id": "C4280379", "aliases": [], "types": ["T033"], "canonical_name": "Thin skull bone"} {"concept_id": "C4280380", "aliases": [], "types": ["T033"], "canonical_name": "Repeated speech"} {"concept_id": "C4280381", "aliases": [], "types": ["T033"], "canonical_name": "Smooth dorsum of tongue"} {"concept_id": "C4280382", "aliases": ["Atrophy of tongue surface"], "types": ["T033"], "canonical_name": "Atrophy of lingual surface"} {"concept_id": "C4280383", "aliases": [], "types": ["T033"], "canonical_name": "Atrophy of dorsum of tongue"} {"concept_id": "C4280385", "aliases": ["Palatal perforation", "Palatal hole"], "types": ["T033"], "canonical_name": "Hole in roof of mouth"} {"concept_id": "C4280386", "aliases": [], "types": ["T033"], "canonical_name": "Notch of alveolar process"} {"concept_id": "C4280387", "aliases": [], "types": ["T033"], "canonical_name": "Pigmented gums"} {"concept_id": "C4280388", "aliases": [], "types": ["T033"], "canonical_name": "Gingival melanin pigmentation"} {"concept_id": "C4280389", "aliases": ["Dark colour of gums"], "types": ["T033"], "canonical_name": "Dark color of gums"} {"concept_id": "C4280390", "aliases": [], "types": ["T033"], "canonical_name": "Collapsed nostrils"} {"concept_id": "C4280391", "aliases": [], "types": ["T033"], "canonical_name": "Missing nose"} {"concept_id": "C4280392", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic nose"} {"concept_id": "C4280393", "aliases": [], "types": ["T033"], "canonical_name": "Absent finger bone of the hand"} {"concept_id": "C4280394", "aliases": [], "types": ["T033"], "canonical_name": "Absent fingers or toes"} {"concept_id": "C4280395", "aliases": [], "types": ["T033"], "canonical_name": "Rounded columella"} {"concept_id": "C4280396", "aliases": [], "types": ["T033"], "canonical_name": "Small pharynx"} {"concept_id": "C4280397", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic pharynx"} {"concept_id": "C4280398", "aliases": ["Decreased width of pharynx"], "types": ["T033"], "canonical_name": "Decreased diameter of pharynx"} {"concept_id": "C4280399", "aliases": [], "types": ["T033"], "canonical_name": "Decreased volume of pharynx"} {"concept_id": "C4280400", "aliases": [], "types": ["T033"], "canonical_name": "Decreased length of pharynx"} {"concept_id": "C4280402", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal maturation of the pelvis bone"} {"concept_id": "C4280403", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal maturation of the pubic bone"} {"concept_id": "C4280404", "aliases": ["Notch of mandibular alveolar process"], "types": ["T033"], "canonical_name": "Notch of lower alveolar process"} {"concept_id": "C4280405", "aliases": ["Cleft of mandibular gingiva"], "types": ["T033"], "canonical_name": "Cleft of lower gingiva"} {"concept_id": "C4280406", "aliases": ["Cleft of mandibular alveolar process"], "types": ["T033"], "canonical_name": "Cleft of lower alveolar process"} {"concept_id": "C4280407", "aliases": [], "types": ["T033"], "canonical_name": "Increasing overgrowth of gum ridge"} {"concept_id": "C4280408", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic neck muscle"} {"concept_id": "C4280409", "aliases": [], "types": ["T033"], "canonical_name": "Deficiency of neck muscle"} {"concept_id": "C4280410", "aliases": [], "types": ["T033"], "canonical_name": "Delayed maturation of the head of the thigh bone"} {"concept_id": "C4280411", "aliases": [], "types": ["T033"], "canonical_name": "Delayed maturation fo pubic bone"} {"concept_id": "C4280412", "aliases": [], "types": ["T033"], "canonical_name": "Large tailbone"} {"concept_id": "C4280413", "aliases": [], "types": ["T019"], "canonical_name": "Congenital malformed nails"} {"concept_id": "C4280414", "aliases": [], "types": ["T033"], "canonical_name": "Delayed heel bone maturation"} {"concept_id": "C4280415", "aliases": [], "types": ["T033"], "canonical_name": "Irregular ankle bone maturation"} {"concept_id": "C4280416", "aliases": [], "types": ["T033"], "canonical_name": "Curvature of 3rd toe"} {"concept_id": "C4280417", "aliases": [], "types": ["T033"], "canonical_name": "Accelerated ankle bone maturation"} {"concept_id": "C4280418", "aliases": [], "types": ["T033"], "canonical_name": "Delayed ankle bone maturation"} {"concept_id": "C4280419", "aliases": [], "types": ["T033"], "canonical_name": "Unequal size of opening between the eyelids"} {"concept_id": "C4280420", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic lower eyelid"} {"concept_id": "C4280421", "aliases": ["Decreased size of eyeballs", "Decreased size of globes of eyes"], "types": ["T033"], "canonical_name": "Abnormally small eyeball on both sides"} {"concept_id": "C4280422", "aliases": [], "types": ["T019"], "canonical_name": "Bilateral nanophthalmos"} {"concept_id": "C4280423", "aliases": [], "types": ["T033"], "canonical_name": "Small condylar neck of mandible"} {"concept_id": "C4280424", "aliases": [], "types": ["T033"], "canonical_name": "Small condylar head of mandible"} {"concept_id": "C4280425", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic mandibular condyle"} {"concept_id": "C4280426", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic condylar process of mandible"} {"concept_id": "C4280427", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplasia of condylar neck of mandible"} {"concept_id": "C4280428", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplasia of condylar head of mandible"} {"concept_id": "C4280429", "aliases": [], "types": ["T033"], "canonical_name": "Underdevelopment of condylar neck of mandible"} {"concept_id": "C4280430", "aliases": ["Underdevelopment of condylar head of mandible"], "types": ["T033"], "canonical_name": "Failure of development of the condylar process of mandible"} {"concept_id": "C4280431", "aliases": [], "types": ["T019"], "canonical_name": "Failure of development of condylar neck of mandible"} {"concept_id": "C4280432", "aliases": [], "types": ["T019"], "canonical_name": "Failure of development of condylar head of mandible"} {"concept_id": "C4280433", "aliases": [], "types": ["T033"], "canonical_name": "Agenesis of condylar neck of mandible"} {"concept_id": "C4280434", "aliases": [], "types": ["T033"], "canonical_name": "Agenesis of condylar head of mandible"} {"concept_id": "C4280435", "aliases": [], "types": ["T033"], "canonical_name": "Absence of the condylar process of mandible"} {"concept_id": "C4280436", "aliases": [], "types": ["T033"], "canonical_name": "Absence of the condylar neck of mandible"} {"concept_id": "C4280437", "aliases": [], "types": ["T033"], "canonical_name": "Absence of the condylar head of mandible"} {"concept_id": "C4280438", "aliases": [], "types": ["T033"], "canonical_name": "Angel's kiss"} {"concept_id": "C4280439", "aliases": [], "types": ["T047"], "canonical_name": "Late onset baby eczema"} {"concept_id": "C4280440", "aliases": [], "types": ["T033"], "canonical_name": "Brown eyelids"} {"concept_id": "C4280441", "aliases": [], "types": ["T033"], "canonical_name": "Decreased pneumatization of paranasal sinus"} {"concept_id": "C4280442", "aliases": [], "types": ["T046"], "canonical_name": "Atelectasis of paranasal sinus"} {"concept_id": "C4280443", "aliases": [], "types": ["T033"], "canonical_name": "Absent bone maturation in sternum"} {"concept_id": "C4280444", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of the wide portion of the femoral bone"} {"concept_id": "C4280445", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of alveolar processes of jaw"} {"concept_id": "C4280446", "aliases": [], "types": ["T033"], "canonical_name": "Delayed bone maturation of the knee cap"} {"concept_id": "C4280447", "aliases": ["Unerupted permanent dentition", "Unerupted adult teeth", "Unerupted permanent teeth"], "types": ["T033"], "canonical_name": "Unerupted adult dentition"} {"concept_id": "C4280448", "aliases": [], "types": ["T033"], "canonical_name": "Narrowing of pulp chamber of tooth"} {"concept_id": "C4280449", "aliases": [], "types": ["T033"], "canonical_name": "Pointed mandibular incisor"} {"concept_id": "C4280450", "aliases": [], "types": ["T033"], "canonical_name": "Peg shaped mandibular incisor"} {"concept_id": "C4280451", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic alveolar ridge"} {"concept_id": "C4280452", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic alveolar process of jaw"} {"concept_id": "C4280453", "aliases": [], "types": ["T033"], "canonical_name": "Deficiency of alveolar process of jaw"} {"concept_id": "C4280454", "aliases": ["Flattening of gum ridges", "Flattening of alveolar ridges"], "types": ["T033"], "canonical_name": "Flattening of alveolar margin"} {"concept_id": "C4280455", "aliases": [], "types": ["T033"], "canonical_name": "Flattening of alveolar processes of jaw"} {"concept_id": "C4280456", "aliases": [], "types": ["T033"], "canonical_name": "Dysplasia of tooth enamel"} {"concept_id": "C4280457", "aliases": [], "types": ["T033"], "canonical_name": "Defective enamel matrix"} {"concept_id": "C4280458", "aliases": ["Missing upper central incisor", "Missing maxillary central incisor"], "types": ["T033"], "canonical_name": "Absence of maxillary central incisor"} {"concept_id": "C4280459", "aliases": ["Abnormality of colour of front teeth", "Discoloured front teeth", "Discolored front teeth"], "types": ["T033"], "canonical_name": "Abnormality of color of front teeth"} {"concept_id": "C4280460", "aliases": [], "types": ["T033"], "canonical_name": "White spot lesions of tooth enamel"} {"concept_id": "C4280461", "aliases": [], "types": ["T046"], "canonical_name": "Fluorosis of tooth enamel"} {"concept_id": "C4280462", "aliases": ["Generalised dysplasia of tooth enamel"], "types": ["T190"], "canonical_name": "Generalized dysplasia of tooth enamel"} {"concept_id": "C4280463", "aliases": [], "types": ["T033"], "canonical_name": "Thickening of connective tissue of innermost finger bone"} {"concept_id": "C4280464", "aliases": [], "types": ["T033"], "canonical_name": "Prominent life line"} {"concept_id": "C4280465", "aliases": [], "types": ["T033"], "canonical_name": "Curved thumb deviated towards palm"} {"concept_id": "C4280467", "aliases": [], "types": ["T033"], "canonical_name": "Short digits on one side"} {"concept_id": "C4280468", "aliases": ["Thick internal surface of the cranial bones"], "types": ["T033"], "canonical_name": "Enlargement of the inner surface of the skull bones"} {"concept_id": "C4280469", "aliases": [], "types": ["T033"], "canonical_name": "Thick inner surface of the skull bones"} {"concept_id": "C4280470", "aliases": [], "types": ["T033"], "canonical_name": "Overgrowth of the inside of the skull"} {"concept_id": "C4280471", "aliases": [], "types": ["T033"], "canonical_name": "Increased ossification of the internal surface of the cranial bones"} {"concept_id": "C4280472", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophy of the internal surface of the cranial bones"} {"concept_id": "C4280473", "aliases": [], "types": ["T033"], "canonical_name": "Curvature of 2nd toe"} {"concept_id": "C4280474", "aliases": [], "types": ["T033"], "canonical_name": "Short condylar neck of mandible"} {"concept_id": "C4280475", "aliases": [], "types": ["T033"], "canonical_name": "Short condylar head of mandible"} {"concept_id": "C4280476", "aliases": [], "types": ["T033"], "canonical_name": "Increased bone density in skeletal bones"} {"concept_id": "C4280477", "aliases": ["Curvature of outermost bone of pinkie finger", "Curvature of outermost bone of pinky finger"], "types": ["T033"], "canonical_name": "Curvature of outermost bone of little finger"} {"concept_id": "C4280478", "aliases": [], "types": ["T191"], "canonical_name": "Chronic blood cancer"} {"concept_id": "C4280479", "aliases": [], "types": ["T033"], "canonical_name": "Increased volume of frontal sinus"} {"concept_id": "C4280480", "aliases": [], "types": ["T033"], "canonical_name": "Increased size of frontal sinus"} {"concept_id": "C4280481", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophy of frontal sinus"} {"concept_id": "C4280482", "aliases": ["Flat posterior head", "Flat back of skull", "Flat back of the skull"], "types": ["T033"], "canonical_name": "Flat back of the head"} {"concept_id": "C4280483", "aliases": [], "types": ["T033"], "canonical_name": "Thin bone of forehead"} {"concept_id": "C4280484", "aliases": ["Hypotrophic frontal bone"], "types": ["T033"], "canonical_name": "Hypotrophic frontal bones"} {"concept_id": "C4280485", "aliases": ["Increased ossification of facial skeleton"], "types": ["T033"], "canonical_name": "Increased ossification of facial bones"} {"concept_id": "C4280486", "aliases": ["Hypertrophy of facial skeleton"], "types": ["T033"], "canonical_name": "Hypertrophy of facial bones"} {"concept_id": "C4280487", "aliases": ["Enlargement of facial skeleton"], "types": ["T033"], "canonical_name": "Enlargement of facial bones"} {"concept_id": "C4280488", "aliases": [], "types": ["T033"], "canonical_name": "Decreased projection of zygomaticomaxillary bone complex"} {"concept_id": "C4280489", "aliases": ["Visible septum of nose"], "types": ["T033"], "canonical_name": "Visible nasal septum"} {"concept_id": "C4280490", "aliases": ["Low hanging septum of nose"], "types": ["T033"], "canonical_name": "Low hanging nasal septum"} {"concept_id": "C4280491", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic internal carotid artery"} {"concept_id": "C4280492", "aliases": ["Small internal carotid artery", "Deficiency of internal carotid artery"], "types": ["T033"], "canonical_name": "Decreased size of internal carotid artery"} {"concept_id": "C4280493", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia of internal carotid artery"} {"concept_id": "C4280494", "aliases": ["Hypotrophic nasal bridge"], "types": ["T033"], "canonical_name": "Hypotrophic bridge of nose"} {"concept_id": "C4280495", "aliases": ["Concave nasal bridge"], "types": ["T033"], "canonical_name": "Concave bridge of nose"} {"concept_id": "C4280496", "aliases": ["Hypotrophic tip of nose"], "types": ["T033"], "canonical_name": "Hypotrophic nasal tip"} {"concept_id": "C4280497", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia of nasal tip"} {"concept_id": "C4280498", "aliases": ["Hypertrophy of tip of nose"], "types": ["T033"], "canonical_name": "Hypertrophy of nasal tip"} {"concept_id": "C4280499", "aliases": ["Hyperplasia of tip of nose"], "types": ["T033"], "canonical_name": "Hyperplasia of nasal tip"} {"concept_id": "C4280500", "aliases": [], "types": ["T033"], "canonical_name": "Bulbous tip of nose"} {"concept_id": "C4280501", "aliases": [], "types": ["T033"], "canonical_name": "Failure of development of nasal septal cartilage"} {"concept_id": "C4280503", "aliases": [], "types": ["T047"], "canonical_name": "Premature hardening of arteries"} {"concept_id": "C4280504", "aliases": [], "types": ["T033"], "canonical_name": "Accelerated plaque build-up in arteries"} {"concept_id": "C4280505", "aliases": [], "types": ["T190"], "canonical_name": "Hardened artery wall in small cerebral arteries"} {"concept_id": "C4280507", "aliases": [], "types": ["T033"], "canonical_name": "Episodic rapid heart beat"} {"concept_id": "C4280508", "aliases": [], "types": ["T033"], "canonical_name": "Foot crease"} {"concept_id": "C4280509", "aliases": [], "types": ["T033"], "canonical_name": "Small facial muscles"} {"concept_id": "C4280510", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic facial musculature"} {"concept_id": "C4280511", "aliases": [], "types": ["T033"], "canonical_name": "Atrophy of facial musculature"} {"concept_id": "C4280512", "aliases": [], "types": ["T033"], "canonical_name": "Inability to touch chin to chest"} {"concept_id": "C4280513", "aliases": [], "types": ["T033"], "canonical_name": "Eburnation of spinal bone"} {"concept_id": "C4280514", "aliases": [], "types": ["T033"], "canonical_name": "Concrete spinal bone"} {"concept_id": "C4280515", "aliases": [], "types": ["T033"], "canonical_name": "Compact spinal bone"} {"concept_id": "C4280516", "aliases": [], "types": ["T033"], "canonical_name": "Thick craniofacial bones"} {"concept_id": "C4280517", "aliases": ["Overgrowth of craniofacial bones", "Excessive growth of craniofacial bones"], "types": ["T033"], "canonical_name": "Enlargement of craniofacial bones"} {"concept_id": "C4280518", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophy of craniofacial bones"} {"concept_id": "C4280519", "aliases": ["Hypertrophy of calvarial bones", "Excessive growth of calvarial bones", "Overgrowth of calvarial bones", "Overgrowth of skullcap"], "types": ["T033"], "canonical_name": "Increased ossification of calvarial bones"} {"concept_id": "C4280520", "aliases": [], "types": ["T033"], "canonical_name": "Enlargement of calvarial bones"} {"concept_id": "C4280521", "aliases": ["Thick mandibular bone"], "types": ["T033"], "canonical_name": "Thick lower jaw bone"} {"concept_id": "C4280522", "aliases": ["Overgrowth of mandibular bone"], "types": ["T033"], "canonical_name": "Excessive growth of mandibular bone"} {"concept_id": "C4280523", "aliases": ["Increased ossification of mandible"], "types": ["T033"], "canonical_name": "Increased ossification of lower jaw"} {"concept_id": "C4280524", "aliases": ["Thick internal surface of the frontal bone"], "types": ["T033"], "canonical_name": "Thick inner surface of the frontal bone"} {"concept_id": "C4280525", "aliases": ["Overgrowth of the inside of the frontal bone"], "types": ["T033"], "canonical_name": "Enlargement of the inner surface of the frontal bone"} {"concept_id": "C4280526", "aliases": [], "types": ["T033"], "canonical_name": "Increased ossification of the internal surface of the frontal bone"} {"concept_id": "C4280527", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophy of the internal surface of the frontal bone"} {"concept_id": "C4280528", "aliases": [], "types": ["T033"], "canonical_name": "Thick skull bones"} {"concept_id": "C4280529", "aliases": ["Overgrowth of skull bones"], "types": ["T033"], "canonical_name": "Excessive growth of skull bones"} {"concept_id": "C4280530", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophy of cranial bones"} {"concept_id": "C4280531", "aliases": [], "types": ["T033"], "canonical_name": "Enlargement of skull bones"} {"concept_id": "C4280532", "aliases": [], "types": ["T033"], "canonical_name": "Decreased width of the skull"} {"concept_id": "C4280533", "aliases": ["Decreased mineralization of skull"], "types": ["T033"], "canonical_name": "Decreased calcification of skull"} {"concept_id": "C4280534", "aliases": [], "types": ["T033"], "canonical_name": "Deficient maturation of hand bones"} {"concept_id": "C4280535", "aliases": ["Stiffened spots within wrist bones"], "types": ["T033"], "canonical_name": "Hardened spots within wrist bones"} {"concept_id": "C4280536", "aliases": [], "types": ["T033"], "canonical_name": "Accelerated wrist bone maturation"} {"concept_id": "C4280537", "aliases": ["Missing wrist bone"], "types": ["T033"], "canonical_name": "Absent wrist bone"} {"concept_id": "C4280538", "aliases": ["Curvature of pinky finger", "Curvature of pinkie finger"], "types": ["T033"], "canonical_name": "Curvature of little finger"} {"concept_id": "C4280539", "aliases": ["Midline cleft of nose"], "types": ["T033"], "canonical_name": "Central cleft of nose"} {"concept_id": "C4280540", "aliases": [], "types": ["T033"], "canonical_name": "Wide long bone of arm growth plate"} {"concept_id": "C4280541", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of arm long bone growth plate"} {"concept_id": "C4280542", "aliases": [], "types": ["T033"], "canonical_name": "Irregular maturation of the end part of the long bone in upper arm"} {"concept_id": "C4280543", "aliases": [], "types": ["T033"], "canonical_name": "Delayed maturation of the end part of the long bone in upper arm"} {"concept_id": "C4280544", "aliases": [], "types": ["T033"], "canonical_name": "Delayed maturation fo the end part of the upper limb bone"} {"concept_id": "C4280545", "aliases": [], "types": ["T033"], "canonical_name": "Decreased size of mandibular ramus"} {"concept_id": "C4280546", "aliases": ["False pulp stones"], "types": ["T033"], "canonical_name": "False denticles"} {"concept_id": "C4280547", "aliases": [], "types": ["T047"], "canonical_name": "Infected joint"} {"concept_id": "C4280548", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic frontal sinus"} {"concept_id": "C4280549", "aliases": [], "types": ["T033"], "canonical_name": "Decreased pneumatization of frontal sinus"} {"concept_id": "C4280550", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of ossification of calvarium"} {"concept_id": "C4280551", "aliases": ["Abnormality of bone mineralization of cranium"], "types": ["T033"], "canonical_name": "Abnormality of bone calcification of cranium"} {"concept_id": "C4280552", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of bone formation of cranium"} {"concept_id": "C4280553", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of bone formation of calvarium"} {"concept_id": "C4280554", "aliases": [], "types": ["T033"], "canonical_name": "Increased diameter of foramen magnum"} {"concept_id": "C4280555", "aliases": [], "types": ["T033"], "canonical_name": "Increased circumference of foramen magnum"} {"concept_id": "C4280556", "aliases": ["Openings in parietal bones"], "types": ["T030"], "canonical_name": "Holes in parietal bones"} {"concept_id": "C4280557", "aliases": ["Hypotrophic facial skeleton"], "types": ["T033"], "canonical_name": "Hypotrophic facial bones"} {"concept_id": "C4280558", "aliases": ["Flattening of facial skeleton"], "types": ["T033"], "canonical_name": "Flattening of facial bones"} {"concept_id": "C4280559", "aliases": ["Aplasia sinus frontalis"], "types": ["T033"], "canonical_name": "Aplasia of frontal sinus"} {"concept_id": "C4280560", "aliases": [], "types": ["T033"], "canonical_name": "Increased thickness of cranium"} {"concept_id": "C4280561", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of cranium"} {"concept_id": "C4280562", "aliases": [], "types": ["T190"], "canonical_name": "Malformation of skull shape"} {"concept_id": "C4280563", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of skull shape"} {"concept_id": "C4280564", "aliases": ["Trilobar cranium shape"], "types": ["T033"], "canonical_name": "Cloverleaf cranium shape"} {"concept_id": "C4280565", "aliases": [], "types": ["T033"], "canonical_name": "Delayed maturation of end part of long bone"} {"concept_id": "C4280566", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal development of end part of bone"} {"concept_id": "C4280567", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal skeletal development"} {"concept_id": "C4280568", "aliases": [], "types": ["T033"], "canonical_name": "Hardened artery wall"} {"concept_id": "C4280569", "aliases": [], "types": ["T033"], "canonical_name": "Plaque build-up in arteries"} {"concept_id": "C4280570", "aliases": [], "types": ["T033"], "canonical_name": "Increased tone of facial muscles"} {"concept_id": "C4280571", "aliases": [], "types": ["T033"], "canonical_name": "Increased stiffness of facial muscles"} {"concept_id": "C4280572", "aliases": [], "types": ["T191"], "canonical_name": "Acute blood cancer"} {"concept_id": "C4280573", "aliases": [], "types": ["T033"], "canonical_name": "Communication delay"} {"concept_id": "C4280574", "aliases": [], "types": ["T033"], "canonical_name": "Problems speaking"} {"concept_id": "C4280575", "aliases": [], "types": ["T047"], "canonical_name": "Progressive brain disease"} {"concept_id": "C4280576", "aliases": [], "types": ["T033"], "canonical_name": "Difficulty making arithmetical calculations"} {"concept_id": "C4280577", "aliases": [], "types": ["T033"], "canonical_name": "Uncoordinated limb movement"} {"concept_id": "C4280578", "aliases": [], "types": ["T033"], "canonical_name": "Grey eyelashes"} {"concept_id": "C4280579", "aliases": [], "types": ["T033"], "canonical_name": "Grey eyebrow"} {"concept_id": "C4280580", "aliases": [], "types": ["T033"], "canonical_name": "Blonde eyebrow"} {"concept_id": "C4280581", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia of eyebrows"} {"concept_id": "C4280582", "aliases": [], "types": ["T033"], "canonical_name": "Agenesis of eyebrows"} {"concept_id": "C4280583", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophy of forehead"} {"concept_id": "C4280584", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of forehead"} {"concept_id": "C4280585", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplasia of columella"} {"concept_id": "C4280586", "aliases": ["Curvature of the pinkie toe", "Curvature of the pinky toe"], "types": ["T033"], "canonical_name": "Curvature of the little toe"} {"concept_id": "C4280587", "aliases": [], "types": ["T033"], "canonical_name": "Toe curvature"} {"concept_id": "C4280588", "aliases": ["Small maxillary lateral incisor", "Small upper lateral incisor", "Decreased size of upper lateral incisor"], "types": ["T033"], "canonical_name": "Decreased size of maxillary lateral incisor"} {"concept_id": "C4280589", "aliases": ["Hypotrophic upper lateral incisor"], "types": ["T033"], "canonical_name": "Hypotrophic maxillary lateral incisor"} {"concept_id": "C4280591", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophy of tooth"} {"concept_id": "C4280592", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of tooth"} {"concept_id": "C4280593", "aliases": ["Multiple retained teeth"], "types": ["T033"], "canonical_name": "Multiple buried teeth"} {"concept_id": "C4280594", "aliases": [], "types": ["T033"], "canonical_name": "Small wrist bones"} {"concept_id": "C4280596", "aliases": [], "types": ["T033"], "canonical_name": "Calvarial defect"} {"concept_id": "C4280597", "aliases": [], "types": ["T190"], "canonical_name": "Rhomboid shaped head"} {"concept_id": "C4280598", "aliases": [], "types": ["T190"], "canonical_name": "Flattening of head"} {"concept_id": "C4280599", "aliases": [], "types": ["T033"], "canonical_name": "Delayed maturation of wrist bone"} {"concept_id": "C4280600", "aliases": [], "types": ["T033"], "canonical_name": "Sudden decrease in vision"} {"concept_id": "C4280601", "aliases": [], "types": ["T033"], "canonical_name": "Xanthoma of periocular region"} {"concept_id": "C4280602", "aliases": [], "types": ["T047"], "canonical_name": "Xanthelasma of periocular region"} {"concept_id": "C4280603", "aliases": ["Large of palpebral fissures"], "types": ["T033"], "canonical_name": "Increased size of palpebral fissures"} {"concept_id": "C4280604", "aliases": [], "types": ["T033"], "canonical_name": "Speckled iris"} {"concept_id": "C4280605", "aliases": [], "types": ["T046"], "canonical_name": "Baby eczema"} {"concept_id": "C4280606", "aliases": [], "types": ["T033"], "canonical_name": "Hanging skin"} {"concept_id": "C4280607", "aliases": [], "types": ["T033"], "canonical_name": "Small wings of the pelvic girdle"} {"concept_id": "C4280608", "aliases": [], "types": ["T033"], "canonical_name": "Thinning and bulging of occipital bone of skull"} {"concept_id": "C4280609", "aliases": [], "types": ["T033"], "canonical_name": "Bone loss around tooth root"} {"concept_id": "C4280610", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of position of teeth"} {"concept_id": "C4280611", "aliases": ["Small tooth", "Underdeveloped tooth", "Tooth hypotrophy", "Decreased size of tooth"], "types": ["T033"], "canonical_name": "Decreased size of teeth"} {"concept_id": "C4280612", "aliases": ["Hypotrophic tooth"], "types": ["T033"], "canonical_name": "Decreased width of tooth"} {"concept_id": "C4280613", "aliases": [], "types": ["T033"], "canonical_name": "Angle class 3 malocclusion"} {"concept_id": "C4280614", "aliases": [], "types": ["T047"], "canonical_name": "Angle class 2 malocclusion"} {"concept_id": "C4280615", "aliases": [], "types": ["T033"], "canonical_name": "Defective tooth enamel"} {"concept_id": "C4280616", "aliases": [], "types": ["T033"], "canonical_name": "Large elongated pulp chamber"} {"concept_id": "C4280617", "aliases": [], "types": ["T033"], "canonical_name": "Tooth mass arch size discrepancy"} {"concept_id": "C4280618", "aliases": [], "types": ["T033"], "canonical_name": "Inadequate arch length for tooth size"} {"concept_id": "C4280619", "aliases": ["Number of teeth decreased by more than six"], "types": ["T033"], "canonical_name": "Missing more than six teeth"} {"concept_id": "C4280620", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophy of permanent maxillary central incisor"} {"concept_id": "C4280621", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of permanent maxillary central incisor"} {"concept_id": "C4280622", "aliases": ["Total absence of all teeth"], "types": ["T033"], "canonical_name": "Missing all teeth"} {"concept_id": "C4280623", "aliases": [], "types": ["T033"], "canonical_name": "Rotting teeth"} {"concept_id": "C4280624", "aliases": [], "types": ["T033"], "canonical_name": "Blind spot located at fixation point"} {"concept_id": "C4280625", "aliases": ["Decreased size of globe of eye"], "types": ["T033"], "canonical_name": "Decreased size of eyeball"} {"concept_id": "C4280626", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia of eyelashes"} {"concept_id": "C4280627", "aliases": ["Agenesis of eyelashes"], "types": ["T033"], "canonical_name": "Failure of development of eyelashes"} {"concept_id": "C4280628", "aliases": [], "types": ["T190"], "canonical_name": "Malformation of the neck"} {"concept_id": "C4280629", "aliases": ["Nasal hyperplasia"], "types": ["T033"], "canonical_name": "Hyperplasia of nose"} {"concept_id": "C4280630", "aliases": [], "types": ["T033"], "canonical_name": "Pinched bridge of nose"} {"concept_id": "C4280631", "aliases": ["Malformation of the nasal ala"], "types": ["T190"], "canonical_name": "Malformation of the nasal alar cartilage"} {"concept_id": "C4280632", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the nasal alar cartilage"} {"concept_id": "C4280633", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic forehead"} {"concept_id": "C4280634", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplasia of forehead"} {"concept_id": "C4280635", "aliases": [], "types": ["T033"], "canonical_name": "Decreased facial muscle movement"} {"concept_id": "C4280636", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophy of supraorbital ridge"} {"concept_id": "C4280637", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophy of supraorbital margins"} {"concept_id": "C4280638", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of supraorbital ridge"} {"concept_id": "C4280639", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of supraorbital margins"} {"concept_id": "C4280640", "aliases": [], "types": ["T033"], "canonical_name": "Retrusion of upper jaw bones"} {"concept_id": "C4280641", "aliases": ["Hypotrophic upper jaw bones"], "types": ["T033"], "canonical_name": "Hypotrophic maxilla"} {"concept_id": "C4280642", "aliases": [], "types": ["T033"], "canonical_name": "Deficiency of upper jaw bones"} {"concept_id": "C4280643", "aliases": ["Decreased projection of upper jaw"], "types": ["T033"], "canonical_name": "Decreased projection of maxilla"} {"concept_id": "C4280644", "aliases": ["Increased size of mandible", "Large jaw"], "types": ["T033"], "canonical_name": "Increased size of the mandible"} {"concept_id": "C4280645", "aliases": ["Hypertrophy of mandible"], "types": ["T033"], "canonical_name": "Hypertrophy of lower jaw"} {"concept_id": "C4280646", "aliases": [], "types": ["T033"], "canonical_name": "Atony of facial musculature"} {"concept_id": "C4280647", "aliases": [], "types": ["T033"], "canonical_name": "Hypertrophy of cheeks"} {"concept_id": "C4280648", "aliases": [], "types": ["T033"], "canonical_name": "Hyperplasia of cheeks"} {"concept_id": "C4280649", "aliases": ["Hypertrophy of facial adipose tissue"], "types": ["T033"], "canonical_name": "Facial fat hypertrophy"} {"concept_id": "C4280650", "aliases": ["Hyperplasia of facial adipose tissue"], "types": ["T033"], "canonical_name": "Facial fat hyperplasia"} {"concept_id": "C4280651", "aliases": [], "types": ["T033"], "canonical_name": "Hypotrophic malar bone"} {"concept_id": "C4280652", "aliases": ["Protruding back of the head", "Prominent posterior head"], "types": ["T033"], "canonical_name": "Prominent back of the head"} {"concept_id": "C4280653", "aliases": [], "types": ["T019"], "canonical_name": "Turridolichocephaly"} {"concept_id": "C4280654", "aliases": [], "types": ["T019"], "canonical_name": "Narrow skull shape"} {"concept_id": "C4280655", "aliases": [], "types": ["T019"], "canonical_name": "Narrow head shape"} {"concept_id": "C4280656", "aliases": [], "types": ["T019"], "canonical_name": "Narrow cranium shape"} {"concept_id": "C4280657", "aliases": [], "types": ["T033"], "canonical_name": "Malformation of head shape"} {"concept_id": "C4280658", "aliases": [], "types": ["T033"], "canonical_name": "Malformation of cranium shape"} {"concept_id": "C4280659", "aliases": [], "types": ["T033"], "canonical_name": "Malformation of cranial vault shape"} {"concept_id": "C4280660", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of head shape"} {"concept_id": "C4280661", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of cranium shape"} {"concept_id": "C4280662", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of cranial vault shape"} {"concept_id": "C4280664", "aliases": ["Large calvaria"], "types": ["T033"], "canonical_name": "Big calvaria"} {"concept_id": "C4280665", "aliases": [], "types": ["T019"], "canonical_name": "Wedge shaped head"} {"concept_id": "C4280666", "aliases": [], "types": ["T019"], "canonical_name": "Triangular head shape"} {"concept_id": "C4280667", "aliases": ["Spider veins of the oral cavity"], "types": ["T033"], "canonical_name": "Spider veins of the mouth"} {"concept_id": "C4280668", "aliases": ["Lingual angioectasias", "Spider veins of the tongue"], "types": ["T033"], "canonical_name": "Angioectasias of the tongue"} {"concept_id": "C4280669", "aliases": [], "types": ["T033"], "canonical_name": "Velopharyngeal dysfunction"} {"concept_id": "C4280670", "aliases": [], "types": ["T033"], "canonical_name": "Spider veins of the lip"} {"concept_id": "C4280671", "aliases": ["Labial angioectasias"], "types": ["T033"], "canonical_name": "Angioectasias of the lip"} {"concept_id": "C4280672", "aliases": ["Decrease in mandibular opening"], "types": ["T033"], "canonical_name": "Decrease in jaw opening"} {"concept_id": "C4280673", "aliases": ["Hypoplasia of tongue frenum", "Hypoplasia of tongue frenulum", "Hypoplasia of lingual frenum"], "types": ["T033"], "canonical_name": "Hypoplasia of lingual frenulum"} {"concept_id": "C4280674", "aliases": ["Agenesis of stensen duct"], "types": ["T033"], "canonical_name": "Agenesis of parotid duct"} {"concept_id": "C4280675", "aliases": ["Wide alveolar processes of jaw"], "types": ["T033"], "canonical_name": "Broad alveolar processes of jaw"} {"concept_id": "C4280676", "aliases": ["Lingual hypokinesia"], "types": ["T033"], "canonical_name": "Hypokinesia of the tongue"} {"concept_id": "C4280677", "aliases": [], "types": ["T033"], "canonical_name": "Idiopathic gingival hyperplasia"} {"concept_id": "C4280678", "aliases": [], "types": ["T033"], "canonical_name": "Posterior displacement of the tongue"} {"concept_id": "C4280679", "aliases": [], "types": ["T033"], "canonical_name": "Increased calcium level in kidney"} {"concept_id": "C4280680", "aliases": [], "types": ["T019"], "canonical_name": "Intracranial neurenteric cyst", "definition": "A neurenteric cyst located within the skull. [UToronto:chum]"} {"concept_id": "C4280681", "aliases": ["Gastro-jejunal tube feeding in infancy"], "types": ["T033"], "canonical_name": "Gastrojejunal tube feeding in infancy", "definition": "Feeding problem necessitating gastrojejunal tube feeding. [PMID:11827911]"} {"concept_id": "C4280682", "aliases": ["Muscle twitches in eyelid", "Fasciculation of the eyelid", "Eyelid fluttering", "Twitching around eyes", "Muscle twitches in eye lid"], "types": ["T033"], "canonical_name": "Eyelid fasciculation", "definition": "Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching. [HPO:probinson]"} {"concept_id": "C4280683", "aliases": [], "types": ["T191"], "canonical_name": "Adenocarcinoma of the intestines", "definition": "A malignant epithelial tumor with a glandular organization that originates in the intestines. []"} {"concept_id": "C4280684", "aliases": [], "types": ["T033"], "canonical_name": "Hyperintensity of MRI T2 signal of the spinal cord", "definition": "A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. [HPO:probinson]"} {"concept_id": "C4280685", "aliases": [], "types": ["T033"], "canonical_name": "Distal upper limb muscle hypertrophy"} {"concept_id": "C4280686", "aliases": [], "types": ["T033"], "canonical_name": "Proximal upper limb muscle hypertrophy"} {"concept_id": "C4280687", "aliases": [], "types": ["T033"], "canonical_name": "Upper limb muscle hypertrophy"} {"concept_id": "C4280688", "aliases": [], "types": ["T033"], "canonical_name": "Jaw ankylosis"} {"concept_id": "C4280689", "aliases": [], "types": ["T033"], "canonical_name": "Decreased size of nasopharyngeal adenoids", "definition": "An abnormal decrease in the size of nasopharyngeal adenoids. [ORCID:0000-0001-7941-2961]"} {"concept_id": "C4280690", "aliases": [], "types": ["T033"], "canonical_name": "Aplastic nasopharyngeal adenoids", "definition": "Absence of the nasopharyngeal adenoids as a developmental defect. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4280691", "aliases": ["Underdeveloped nasopharyngeal adenoids"], "types": ["T190"], "canonical_name": "Hypoplastic nasopharyngeal adenoids", "definition": "Underdevelopment of the nasopharyngeal adenoids. []"} {"concept_id": "C4280692", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal size of nasopharyngeal adenoids", "definition": "A deviation in the size of nasopharyngeal adenoids. [ORCID:0000-0001-7941-2961]"} {"concept_id": "C4280693", "aliases": [], "types": ["T033"], "canonical_name": "Aplasia/Hypoplasia of the clitoris"} {"concept_id": "C4280694", "aliases": [], "types": ["T033"], "canonical_name": "Decreased size of the clitoris"} {"concept_id": "C4280695", "aliases": [], "types": ["T033"], "canonical_name": "Increased size of the clitoris"} {"concept_id": "C4280696", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal size of the clitoris"} {"concept_id": "C4280697", "aliases": ["Hand dimples"], "types": ["T033"], "canonical_name": "Hand dimple", "definition": "A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand. [HPO:skoehler]"} {"concept_id": "C4280698", "aliases": [], "types": ["T033"], "canonical_name": "Reduced prothrombin antigen", "definition": "Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin. []"} {"concept_id": "C4280699", "aliases": [], "types": ["T033"], "canonical_name": "Reduced plasminogen activator inhibitor 1 antigen", "definition": "Reduced level of plasminogen activator inhibitor 1 antigen. []"} {"concept_id": "C4280700", "aliases": [], "types": ["T033"], "canonical_name": "Reduced plasminogen activator inhibitor 1 activity", "definition": "Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator. []"} {"concept_id": "C4280701", "aliases": [], "types": ["T033"], "canonical_name": "Reduced euglobulin clot lysis time", "definition": "Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. []"} {"concept_id": "C4280702", "aliases": [], "types": ["T033"], "canonical_name": "Reduced antithrombin antigen", "definition": "Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation. []"} {"concept_id": "C4280703", "aliases": [], "types": ["T033"], "canonical_name": "Reduced alpha-2-antiplasmin activity", "definition": "Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis. []"} {"concept_id": "C4280704", "aliases": [], "types": ["T033"], "canonical_name": "Prolonged Russell's viper venom time", "definition": "Increased time to coagulation in the Russell's viper venom assay []"} {"concept_id": "C4280705", "aliases": [], "types": ["T033"], "canonical_name": "Prolonged euglobulin clot lysis time", "definition": "Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. []"} {"concept_id": "C4280706", "aliases": [], "types": ["T033"], "canonical_name": "Increased RIPA", "definition": "Increased platelet agglutination in response to low-dose ristocetin []"} {"concept_id": "C4280707", "aliases": [], "types": ["T033"], "canonical_name": "Increased ratio of VWF propeptide to VWF antigen", "definition": "An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA. []"} {"concept_id": "C4280708", "aliases": [], "types": ["T033"], "canonical_name": "Increased plasma vitamin K epoxide after vitamin K supplementation", "definition": "Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1. []"} {"concept_id": "C4280709", "aliases": ["Neutrophil migratory defect"], "types": ["T049"], "canonical_name": "Impaired neutrophil chemotaxis", "definition": "An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response []"} {"concept_id": "C4280710", "aliases": ["von Willebrand Disease Type II Normandy"], "types": ["T033"], "canonical_name": "Impaired binding of factor VIII to VWF", "definition": "Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay. []"} {"concept_id": "C4280711", "aliases": ["Inclusion bodies in leukocytes", "Dohle-like leukocyte inclusion bodies"], "types": ["T033"], "canonical_name": "Leukocyte inclusion bodies", "definition": "The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes. []"} {"concept_id": "C4280712", "aliases": [], "types": ["T046"], "canonical_name": "Delayed onset bleeding", "definition": "Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours. []"} {"concept_id": "C4280713", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal onset of bleeding"} {"concept_id": "C4280714", "aliases": ["Decreased level of tPA"], "types": ["T033"], "canonical_name": "Decreased level of tissue plasminogen activator", "definition": "The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis []"} {"concept_id": "C4280715", "aliases": ["Decreased level of plasminogen"], "types": ["T033"], "definition": "A decreased level of Plasminogen []", "canonical_name": "Hypoplasminogenemia"} {"concept_id": "C4280716", "aliases": [], "types": ["T033"], "canonical_name": "Decreased level of histidine-rich glycoprotein", "definition": "Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation []"} {"concept_id": "C4280717", "aliases": ["Heparin co-factor II deficiency"], "types": ["T033"], "canonical_name": "Decreased level of heparin co-factor II", "definition": "An abnormality of coagulation related to a decreased concentration of heparin co-factor II []"} {"concept_id": "C4280718", "aliases": ["Decrease in HMW VWF multimers"], "types": ["T033"], "canonical_name": "Decrease in high molecular weight von Willebrand factor Multimers", "definition": "A decrease in high molecular weight von Willebrand factor multimers. []"} {"concept_id": "C4280719", "aliases": ["Abnormality of the fibrinolytic system"], "types": ["T033"], "canonical_name": "Abnormality of fibrinolysis", "definition": "Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis) []"} {"concept_id": "C4280721", "aliases": [], "types": ["T033"], "canonical_name": "Maternal thrombophilia", "definition": "An increased tendency towards thrombosis in the mother during a pregnancy. [HPO:probinson, PMID:25401392]"} {"concept_id": "C4280722", "aliases": [], "types": ["T190"], "canonical_name": "Hypoplasia of the dental root"} {"concept_id": "C4280723", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal size of the dental root"} {"concept_id": "C4280724", "aliases": [], "types": ["T033"], "canonical_name": "Increased lymphocyte apoptosis", "definition": "A elevation in the rate of apoptosis in lymphocytes. []"} {"concept_id": "C4280725", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal lymphocyte apoptosis", "definition": "A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes. [HPO:probinson, PMID:17562483]"} {"concept_id": "C4280726", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent parasitic infections", "definition": "Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection. [HPO:probinson]"} {"concept_id": "C4280727", "aliases": [], "types": ["T033"], "canonical_name": "Interlobular septal thickening on pulmonary HRCT"} {"concept_id": "C4280729", "aliases": ["Obstructive deficit on pulmonary function testing", "Obstructive deficit on pulmonary function test"], "types": ["T033"], "canonical_name": "Reduced FEV1/FVC ratio", "definition": "Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). [NIHR:ldaugherty, PMID:22347750, PMID:24695507]"} {"concept_id": "C4280730", "aliases": ["Abnormal pulmonary circulation", "Abnormality of respiratory circulation"], "types": ["T033"], "canonical_name": "Abnormality of pulmonary circulation", "definition": "A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart. [HPO:probinson]"} {"concept_id": "C4280731", "aliases": ["O2 desaturation on exertion"], "types": ["T033"], "canonical_name": "Oxygen desaturation on exertion", "definition": "Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. [NIHR:ldaugherty, PMID:24121092]"} {"concept_id": "C4280732", "aliases": ["ACA positivity", "Anti-centromere antibody positivity", "Anticentromere antibody positivity"], "types": ["T034"], "canonical_name": "Anti-centromere antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components. [LMU:mgriese, PMID:17444587, PMID:31858335]"} {"concept_id": "C4280733", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal cardiac ventricular function", "definition": "An abnormality of the cardiac ventricular function. [NIHR:ldaugherty]"} {"concept_id": "C4280734", "aliases": ["Facet arthritis"], "types": ["T047"], "canonical_name": "Facet joint arthrosis", "definition": "Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray. [HPO:probinson]"} {"concept_id": "C4280735", "aliases": ["Abnormality of apophyseal joint", "Abnormality of zygapophyseal joint", "Abnormality of Z-joint", "Abnormality of zygapophysial joint"], "types": ["T033"], "canonical_name": "Abnormality of spinal facet joint", "definition": "An anomaly of the small joints located between and behind adjacent vertebrae. [HPO:probinson]"} {"concept_id": "C4280736", "aliases": [], "types": ["T033"], "canonical_name": "Large knee", "definition": "Abnormally increased size of the knee joint. [HPO:probinson]"} {"concept_id": "C4280737", "aliases": ["Prominent elbow"], "types": ["T033"], "canonical_name": "Large elbow", "definition": "Abnormal increased size of the elbow joint. [HPO:probinson]"} {"concept_id": "C4280738", "aliases": [], "types": ["T033"], "canonical_name": "Elevated CSF amyloid level", "definition": "Increased concentration of amyloid in the cerebrospinal fluid (CSF). []"} {"concept_id": "C4280739", "aliases": [], "types": ["T033"], "canonical_name": "Decreased CSF amyloid level", "definition": "Reduced concentration of amyloid in the cerebrospinal fluid (CSF). []"} {"concept_id": "C4280740", "aliases": ["Abnormal CSF A[beta]42 level"], "types": ["T033"], "canonical_name": "Abnormal CSF amyloid level", "definition": "Abnormal concentration of amyloid in the cerebrospinal fluid (CSF). []"} {"concept_id": "C4280741", "aliases": ["Anti-Scl-70 antibody positivity", "Top1 antibody positivity", "Topoisomerase (DNA) I antibody positivity"], "types": ["T034"], "canonical_name": "Anti-topoisomerase I antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I. [LMU:mgriese, PMID:16112028, PMID:31858335]"} {"concept_id": "C4280742", "aliases": [], "types": ["T184"], "canonical_name": "Eye movement-induced pain", "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. [HPO:probinson, PMID:12928305]"} {"concept_id": "C4280743", "aliases": [], "types": ["T033"], "canonical_name": "Low pulse pressure", "definition": "Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). [HPO:probinson]"} {"concept_id": "C4280744", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of venous physiology", "definition": "An anomaly of venous function. [HPO:probinson]"} {"concept_id": "C4280745", "aliases": [], "types": ["T033"], "canonical_name": "Heliotrope rash of eyelid", "definition": "Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema. [HPO:probinson, PMID:12786876, PMID:25587479]"} {"concept_id": "C4280746", "aliases": [], "types": ["T033"], "canonical_name": "Undetectable pattern electroretinogram", "definition": "Absent response to a pattern electroretinogram (PERG). [HPO:probinson]"} {"concept_id": "C4280747", "aliases": [], "types": ["T046"], "canonical_name": "Choking episodes", "definition": "Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing. [HPO:probinson]"} {"concept_id": "C4280748", "aliases": ["Mizuo-Nakamura phenomenon"], "types": ["T033"], "canonical_name": "Mizuo phenomenon", "definition": "Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. [HPO:probinson]"} {"concept_id": "C4280749", "aliases": [], "types": ["T033"], "canonical_name": "Hooded upper eyelid", "definition": "Upper eyelid partly covered by skin when eyes are open. []"} {"concept_id": "C4280750", "aliases": [], "types": ["T033"], "canonical_name": "Hooded lower eyelid", "definition": "Lower eyelid partly covered by skin when eyes are open. []"} {"concept_id": "C4280751", "aliases": ["Upslanting nail", "Upward angulation of nail"], "types": ["T033"], "canonical_name": "Ski jump nail", "definition": "Nails that slope upward at the free edge. [HPO:probinson]"} {"concept_id": "C4280752", "aliases": [], "types": ["T033"], "canonical_name": "Beaked nails", "definition": "Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit. [HPO:probinson]"} {"concept_id": "C4280753", "aliases": ["Orange colored tonsils", "Orange discoloured tonsils", "Tonsils with orange deposits", "Orange coloured tonsils", "Orange tonsils"], "types": ["T033"], "canonical_name": "Orange discolored tonsils", "definition": "A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903. [HPO:probinson, PMID:19470903]"} {"concept_id": "C4280754", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal tongue physiology", "definition": "Any functional anomaly of the tongue. []"} {"concept_id": "C4280755", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal tongue morphology", "definition": "Any structural anomaly of the tongue. []"} {"concept_id": "C4280756", "aliases": [], "types": ["T033"], "canonical_name": "Ragged cuticle", "definition": "The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle. [HPO:probinson]"} {"concept_id": "C4280757", "aliases": [], "types": ["T033"], "canonical_name": "Fast-growing nails", "definition": "Nails whose growth is quicker than normal. [HPO:probinson]"} {"concept_id": "C4280758", "aliases": ["Absent lunulae", "Lunulae absent", "Lunula absent"], "types": ["T033"], "canonical_name": "Absent lunula", "definition": "Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail. [HPO:probinson]"} {"concept_id": "C4280759", "aliases": [], "types": ["T033"], "canonical_name": "Reduced visual accommodation", "definition": "A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances. [HPO:probinson]"} {"concept_id": "C4280760", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal visual accommodation", "definition": "An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power. [HPO:probinson]"} {"concept_id": "C4280761", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the bed nucleus of stria terminalis", "definition": "The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus. [HPO:probinson, PMID:12600711]"} {"concept_id": "C4280762", "aliases": [], "types": ["T033"], "canonical_name": "Reduced volume of central subdivision of bed nucleus of stria terminalis", "definition": "A diminished volume of the central part of the bed nucleus of the stria terminalis. [HPO:probinson, PMID:7477289]"} {"concept_id": "C4280763", "aliases": ["Increased C peptide level"], "types": ["T033"], "canonical_name": "Increased C-peptide level", "definition": "An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion. [HPO:probinson]"} {"concept_id": "C4280764", "aliases": ["Reduced C peptide level"], "types": ["T033"], "canonical_name": "Reduced C-peptide level", "definition": "A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion. [HPO:probinson]"} {"concept_id": "C4280765", "aliases": ["Abnormal C peptide level"], "types": ["T033"], "canonical_name": "Abnormal C-peptide level", "definition": "An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. [HPO:probinson, PMID:15198367]"} {"concept_id": "C4280766", "aliases": [], "types": ["T033"], "canonical_name": "Jaw swelling", "definition": "Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible). [HPO:probinson]"} {"concept_id": "C4280767", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal jaw morphology", "definition": "A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. [HPO:probinson]"} {"concept_id": "C4280768", "aliases": ["Abnormal cerumen pigmentation", "Abnormal cerumen colour"], "types": ["T033"], "canonical_name": "Abnormal cerumen color", "definition": "An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color. [HPO:probinson]"} {"concept_id": "C4280769", "aliases": [], "types": ["T033"], "canonical_name": "Cerumen abnormality", "definition": "Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal. [HPO:probinson]"} {"concept_id": "C4280770", "aliases": ["Thoracic cystic lymphangioma", "Intrathoracic cystic hygroma"], "types": ["T191"], "canonical_name": "Mediastinal cystic lymphangioma", "definition": "A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors. [PMID:25821300, UToronto:chum]"} {"concept_id": "C4280771", "aliases": ["Increased serum interleukin-6", "Increased serum IL-6"], "types": ["T033"], "canonical_name": "Increased circulating interleukin 6 concentration", "definition": "An increased concentration of interleukin-6 in the blood circulation. [HPO:probinson, PMID:9883970]"} {"concept_id": "C4280772", "aliases": ["Abnormal serum IL level", "Abnormal serum interleukin level"], "types": ["T033"], "canonical_name": "Abnormal circulating interleukin concentration", "definition": "An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. [HPO:probinson, PMID:28487810]"} {"concept_id": "C4280773", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating free fatty acid level", "definition": "A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. [HPO:probinson]"} {"concept_id": "C4280774", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of the protein C anticoagulant pathway", "definition": "An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC. [HPO:probinson, PMID:12970121, PMID:15943976]"} {"concept_id": "C4280775", "aliases": ["Modic type 3 vertebral endplate changes"], "types": ["T033"], "canonical_name": "Modic type III vertebral endplate changes", "definition": "An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs. [HPO:probinson, PMID:24162519]"} {"concept_id": "C4280776", "aliases": ["Modic type 2 vertebral endplate changes"], "types": ["T033"], "canonical_name": "Modic type II vertebral endplate changes", "definition": "An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow. [HPO:probinson, PMID:24162519]"} {"concept_id": "C4280777", "aliases": ["Modic type 1 vertebral endplate changes"], "types": ["T033"], "canonical_name": "Modic type I vertebral endplate changes", "definition": "An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation. [HPO:probinson, PMID:24162519]"} {"concept_id": "C4280778", "aliases": [], "types": ["T033"], "canonical_name": "Modic type vertebral endplate changes", "definition": "An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic. [HPO:probinson, PMID:24162519]"} {"concept_id": "C4280779", "aliases": ["Amniotic shelf"], "types": ["T190"], "canonical_name": "Amniotic Sheet", "definition": "A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion. [UToronto:chum]"} {"concept_id": "C4280781", "aliases": ["Fat cell hypertrophy"], "types": ["T033"], "canonical_name": "Adipocyte hypertrophy", "definition": "An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy. [HPO:probinson, PMID:25148116]"} {"concept_id": "C4280782", "aliases": [], "types": ["T047"], "canonical_name": "Periapical tooth abscess", "definition": "A tooth abscess that occurs at the tip of the root (apex) of a tooth. []"} {"concept_id": "C4280783", "aliases": ["Red teeth"], "types": ["T033"], "canonical_name": "Erythrodontia", "definition": "Reddish, brown opalescent discoloration of teeth in normal light. [PMID:21731282]"} {"concept_id": "C4280784", "aliases": [], "types": ["T191"], "canonical_name": "Craniofacial teratoma", "definition": "A teratoma located in the craniofacial region. [UToronto:chum]"} {"concept_id": "C4280785", "aliases": ["Intrauterine foetal demise of one twin after midgestation"], "types": ["T033"], "canonical_name": "Intrauterine fetal demise of one twin after midgestation", "definition": "Loss of one twin occurring after midgestation (17 weeks gestation). [HPO:jdavis, PMID:10732306, PMID:2187353, PMID:24361180, PMID:2704493, PMID:9699754]"} {"concept_id": "C4280786", "aliases": ["Grade IV preterm intraventricular haemorrhage"], "types": ["T046"], "canonical_name": "Grade IV preterm intraventricular hemorrhage", "definition": "Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension. [UToronto:chum]"} {"concept_id": "C4280787", "aliases": ["Grade III preterm intraventricular haemorrhage"], "types": ["T046"], "canonical_name": "Grade III preterm intraventricular hemorrhage", "definition": "Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles. [UToronto:chum]"} {"concept_id": "C4280788", "aliases": ["Grade II preterm intraventricular haemorrhage"], "types": ["T046"], "canonical_name": "Grade II preterm intraventricular hemorrhage", "definition": "Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle. [UToronto:chum]"} {"concept_id": "C4280789", "aliases": ["Preterm intraventricular haemorrhage"], "types": ["T046"], "canonical_name": "Preterm intraventricular hemorrhage", "definition": "Intraventricular hemorrhage that occurs in a premature infant. [HPO:probinson]"} {"concept_id": "C4280790", "aliases": [], "types": ["T033"], "canonical_name": "Hyaloid vascular remnant and retrolental mass", "definition": "A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. [HPO:probinson]"} {"concept_id": "C4280791", "aliases": ["Bergmeister papilla"], "types": ["T019"], "canonical_name": "Glial remnants anterior to the optic disc", "definition": "Persistance of a posterior remnant of the hyaloid artery located at the optic disc. [HPO:probinson]"} {"concept_id": "C4280792", "aliases": ["Right ventricular anomalous muscle bundle"], "types": ["T019"], "canonical_name": "Anomalous muscle bundle of the right ventricle", "definition": "An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract. [UToronto:chum]"} {"concept_id": "C4280793", "aliases": [], "types": ["T191"], "canonical_name": "Altman type III sacrococcygeal teratoma", "definition": "A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass. [HPO:probinson]"} {"concept_id": "C4280794", "aliases": [], "types": ["T191"], "canonical_name": "Altman type II sacrococcygeal teratoma", "definition": "A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component. [HPO:probinson]"} {"concept_id": "C4280795", "aliases": [], "types": ["T191"], "canonical_name": "Altman type I sacrococcygeal teratoma", "definition": "A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks. [HPO:probinson]"} {"concept_id": "C4280796", "aliases": [], "types": ["T190"], "canonical_name": "Vesicoallantoic abdominal wall defect", "definition": "An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst. [HPO:probinson, PMID:2521673, UToronto:chum]"} {"concept_id": "C4280797", "aliases": [], "types": ["T190"], "canonical_name": "Parietal meningocele", "definition": "A herniation of meninges through a congenital bone defect in the skull in the parietal region. [HPO:probinson]"} {"concept_id": "C4280798", "aliases": ["Frontoethmoid meningocele"], "types": ["T047"], "canonical_name": "Frontoethmoidal meningocele", "definition": "A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones. [HPO:probinson]"} {"concept_id": "C4280799", "aliases": [], "types": ["T019"], "canonical_name": "Spinal neurenteric cyst", "definition": "A neurenteric cyst located in the spine. [UToronto:chum]"} {"concept_id": "C4280800", "aliases": [], "types": ["T019"], "canonical_name": "Congenital megalourethra", "definition": "Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. [PMID:20981865, UToronto:chum]"} {"concept_id": "C4280801", "aliases": [], "types": ["T047"], "canonical_name": "Subchorionic septal cyst", "definition": "Cyst on the surface of the placenta consisting of amnion and chorion. [UToronto:chum]"} {"concept_id": "C4280802", "aliases": ["Pulmonary venous stenosis", "Pulmonary venous occlusion"], "types": ["T033"], "canonical_name": "Pulmonary venous occlusion", "definition": "Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition. [HPO:probinson, NIHR:ldaugherty, PMID:20456932, PMID:27009171]"} {"concept_id": "C4280804", "aliases": [], "types": ["T033"], "canonical_name": "Percussion-induced rapid rolling muscle contractions", "definition": "Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle. [HPO:probinson]"} {"concept_id": "C4280805", "aliases": ["Negative nitroblue tetrazolium reduction test", "Negative NBT reduction test"], "types": ["T034"], "canonical_name": "Impaired oxidative burst", "definition": "In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria. [HPO:probinson]"} {"concept_id": "C4280806", "aliases": [], "types": ["T190"], "canonical_name": "Calcium oxalate kidney stones"} {"concept_id": "C4280807", "aliases": ["Flattening of cranium", "Flattening of skull", "Rhomboid shaped cranium", "Rhomboid shaped skull"], "types": ["T190"], "canonical_name": "Flattening of cranial vault"} {"concept_id": "C4280808", "aliases": ["Abnormally small globe of eye"], "types": ["T190"], "canonical_name": "Abnormally small eyeball"} {"concept_id": "C4281601", "aliases": ["Oligodactyly of feet", "Missing toes"], "types": ["T190"], "canonical_name": "Foot oligodactyly", "definition": "A developmental defect resulting in the presence of fewer than the normal number of toes. [HPO:probinson]"} {"concept_id": "C4281741", "aliases": ["Mesangial proliferation"], "types": ["T049"], "definition": "Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. [Eurenomics:fschaefer, KPMP:arosenberg, PMID:32866505]", "canonical_name": "Mesangial hypercellularity"} {"concept_id": "C4281771", "aliases": ["Thin eyebrow", "Thin eyebrows"], "types": ["T033"], "canonical_name": "Thin eyebrow", "definition": "Decreased diameter of eyebrow hairs. []"} {"concept_id": "C4281786", "aliases": ["Lipid-laden histiocytes", "Presence of foam cells", "Foam cells", "Foamy histiocytes"], "types": ["T033"], "definition": "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. [HPO:probinson]", "canonical_name": "Foamy macrophages"} {"concept_id": "C4281993", "aliases": ["Infantile respiratory distress", "Respiratory distress, neonatal", "Neonatal respiratory distress"], "types": ["T033"], "definition": "Respiratory difficulty as newborn. [HPO:probinson]", "canonical_name": "Newborn respiratory distress"} {"concept_id": "C4282032", "aliases": [], "types": ["T191"], "canonical_name": "Senile wart"} {"concept_id": "C4282073", "aliases": ["HbS haemoglobin"], "types": ["T033"], "canonical_name": "HbS hemoglobin", "definition": "Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. [HPO:probinson, PMID:34406727, PMID:3953566]"} {"concept_id": "C4282165", "aliases": [], "types": ["T184"], "definition": "The presence of an enlarged lymph node.", "canonical_name": "Swollen lymph nodes"} {"concept_id": "C4282399", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal maturation of the hand bones"} {"concept_id": "C4285597", "aliases": [], "types": ["T033"], "canonical_name": "Myoglobin casts", "definition": "A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. [PMID:28398539]"} {"concept_id": "C4285782", "aliases": [], "types": ["T048"], "definition": "Anxiety disorder of persistent and irrational fear of movement following an injury. It is related to perceived disability due to injury and CATASTROPHIZING in fear of (anticipated) PAIN and possibility of REINJURY.", "canonical_name": "Kinesiophobia"} {"concept_id": "C4285890", "aliases": [], "types": ["T047"], "canonical_name": "Carotid artery calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery. []"} {"concept_id": "C4293666", "aliases": [], "types": ["T033"], "canonical_name": "Myerson's sign"} {"concept_id": "C4293667", "aliases": [], "types": ["T033"], "canonical_name": "Single-twin demise"} {"concept_id": "C4293668", "aliases": ["Degenerative enteric neuropathy"], "types": ["T046"], "canonical_name": "Enteric neuronal degeneration", "definition": "Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons. []"} {"concept_id": "C4293669", "aliases": [], "types": ["T190"], "canonical_name": "Ectopic macula"} {"concept_id": "C4293670", "aliases": [], "types": ["T049"], "canonical_name": "Abnormality of enteric neuron morphology"} {"concept_id": "C4293671", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of enteric ganglion morphology", "definition": "An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow. [HPO:probinson]"} {"concept_id": "C4293672", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of mesentery morphology", "definition": "Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium). [HPO:sdoelken]"} {"concept_id": "C4293674", "aliases": ["Scrotum-like labia majora"], "types": ["T190"], "canonical_name": "Exaggerated rugosity of the labia majora", "definition": "Marked rugae formation of the skin of the labia majora. [PMID:23650202]"} {"concept_id": "C4293675", "aliases": [], "types": ["T019"], "canonical_name": "Duplicated clitoris", "definition": "Supernumerary clitoris. []"} {"concept_id": "C4293676", "aliases": ["Anti-liver cytosol antibody-1 positivity"], "types": ["T034"], "canonical_name": "Anti-liver cytosolic antigen type 1 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction. [PMID:7806169]"} {"concept_id": "C4293677", "aliases": ["Anti-LKM-1 positive"], "types": ["T034"], "canonical_name": "Liver kidney microsome type 1 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2). []"} {"concept_id": "C4293678", "aliases": [], "types": ["T033"], "canonical_name": "Glabellar reflex", "definition": "A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign. [HPO:probinson]"} {"concept_id": "C4293679", "aliases": [], "types": ["T184"], "canonical_name": "Pruritis on breast", "definition": "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast. []"} {"concept_id": "C4293680", "aliases": [], "types": ["T184"], "canonical_name": "Pruritis on hand", "definition": "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand. []"} {"concept_id": "C4293681", "aliases": [], "types": ["T184"], "canonical_name": "Pruritis on abdomen", "definition": "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen. []"} {"concept_id": "C4293682", "aliases": ["Abnormal GI transit time"], "types": ["T033"], "canonical_name": "Abnormal gastrointestinal transit time", "definition": "A deviation from the normal amount of time required for food to pass through the intestines. [PMID:22206545]"} {"concept_id": "C4293683", "aliases": [], "types": ["T033"], "canonical_name": "Insufficient response to short acting pulmonary vasodilator", "definition": "No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. [NIHR:ldaugherty]"} {"concept_id": "C4293684", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal response to short acting pulmonary vasodilator", "definition": "Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg. [NIHR:ldaugherty, PMID:20004088]"} {"concept_id": "C4293685", "aliases": ["DWMH"], "types": ["T033"], "canonical_name": "Deep cerebral white matter hyperintensities", "definition": "Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system. [PMID:15576652]"} {"concept_id": "C4293686", "aliases": ["PVWMH"], "types": ["T033"], "canonical_name": "Periventricular white matter hyperintensities", "definition": "Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. [PMID:15576652]"} {"concept_id": "C4293687", "aliases": [], "types": ["T019"], "canonical_name": "Congenital shortened small intestine", "definition": "Substantially shortened length of the small intestine as a result of a developmental defect. [PMID:18209785]"} {"concept_id": "C4293688", "aliases": [], "types": ["T034"], "canonical_name": "C3 nephritic factor positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb). []"} {"concept_id": "C4293689", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal proerythroblast morphology", "definition": "Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. []"} {"concept_id": "C4293690", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal morphology of erythroid progenitor cell", "definition": "Abnormal form of the progenitor cells committed to the erythroid lineage. []"} {"concept_id": "C4293691", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of digestive system morphology", "definition": "A structural anomaly of the digestive system. []"} {"concept_id": "C4293692", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of digestive system physiology", "definition": "A functional anomaly of the digestive system. []"} {"concept_id": "C4293693", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of enteric nervous system morphology", "definition": "A structural anomaly of nerves of the enteric nervous system. []"} {"concept_id": "C4293694", "aliases": [], "types": ["T019"], "canonical_name": "H-type rectovestibular fistula", "definition": "Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract. [PMID:20223314]"} {"concept_id": "C4293695", "aliases": ["Vestibular fistula"], "types": ["T019"], "canonical_name": "Rectovestibular fistula", "definition": "A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening. [HPO:probinson]"} {"concept_id": "C4293696", "aliases": [], "types": ["T033"], "canonical_name": "Elevated prostate-specific antigen level", "definition": "An increased concentration of prostate specific antigen (PSA) in the circulation. [PMID:26366236]"} {"concept_id": "C4293697", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal capillary physiology", "definition": "A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. []"} {"concept_id": "C4293698", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal capillary morphology", "definition": "A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. []"} {"concept_id": "C4293699", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal vascular morphology"} {"concept_id": "C4293700", "aliases": [], "types": ["T046"], "canonical_name": "Subcutaneous spheroids", "definition": "Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray. [PMID:20847697]"} {"concept_id": "C4293701", "aliases": [], "types": ["T047"], "canonical_name": "Status cribrosum", "definition": "Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations. [HPO:probinson]"} {"concept_id": "C4293702", "aliases": [], "types": ["T046"], "canonical_name": "Foveal atrophy", "definition": "Partial or complete loss of foveal tissue that was once present. [HPO:probinson]"} {"concept_id": "C4293703", "aliases": ["Protruding upper incisors", "Proclination of the upper incisors", "Forward directed upper incisors"], "types": ["T033"], "canonical_name": "Forward slanting upper incisors", "definition": "The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards. []"} {"concept_id": "C4293704", "aliases": [], "types": ["T033"], "canonical_name": "Tracheal tug on inspiration", "definition": "Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree. [UToronto:chum]"} {"concept_id": "C4293705", "aliases": [], "types": ["T190"], "canonical_name": "Ectopic fovea", "definition": "An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina. []"} {"concept_id": "C4293706", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal glomerular capillary morphology", "definition": "A structural anomaly of the capillary blood vessels in the renal glomerulus. []"} {"concept_id": "C4293707", "aliases": [], "types": ["T033"], "canonical_name": "Thickening of glomerular capillary wall", "definition": "Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. [HPO:probinson, PMID:6879730]"} {"concept_id": "C4293708", "aliases": [], "types": ["T184"], "canonical_name": "Recurrent paroxysmal headache", "definition": "Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. [HPO:probinson]"} {"concept_id": "C4296896", "aliases": [], "types": ["T191"], "definition": "The presence of multiple serrated polyps in the colon and/or rectum. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps.", "canonical_name": "Serrated polyposis"} {"concept_id": "C4303697", "aliases": [], "types": ["T046"], "canonical_name": "Dilatation of the thoracic aorta"} {"concept_id": "C4303992", "aliases": [], "types": ["T019"], "definition": "A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families.", "canonical_name": "Type A5 brachydactyly"} {"concept_id": "C4304293", "aliases": [], "types": ["T033"], "definition": "An abnormal dark-yellow color of the urine. []", "canonical_name": "Dark yellow urine"} {"concept_id": "C4304727", "aliases": ["Sudden unexpected death in epilepsy"], "types": ["T033"], "definition": "Sudden death in a patient with EPILEPSY associated with SEIZURES and seizure-related symptoms (e.g., APNEA; HYPOXEMIA) without other identifiable accidental causes (e.g., DROWNING; WOUNDS AND INJURIES).", "canonical_name": "SUDEP"} {"concept_id": "C4305511", "aliases": [], "types": ["T190"], "definition": "A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors. [PMID:31468724]", "canonical_name": "Tapered tooth"} {"concept_id": "C4305545", "aliases": [], "types": ["T047"], "definition": "An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis. [PMID:35136187]", "canonical_name": "Fetal lower urinary tract obstruction"} {"concept_id": "C4313432", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary sedoheptulose", "definition": "An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group. []"} {"concept_id": "C4315108", "aliases": [], "types": ["T033"], "canonical_name": "Jaw contracture", "definition": "Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement. [PMID:12453260]"} {"concept_id": "C4315130", "aliases": ["Atrophy of the hippocampus", "Degeneration of the hippocampus"], "types": ["T047"], "canonical_name": "Hippocampal atrophy", "definition": "Partial or complete wasting (loss) of hippocampus tissue that was once present. []"} {"concept_id": "C4315392", "aliases": [], "types": ["T019"], "definition": "In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. [HPO:probinson]", "canonical_name": "Type E brachydactyly"} {"concept_id": "C4315867", "aliases": [], "types": ["T047"], "canonical_name": "Moderate myopia", "definition": "A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters. []"} {"concept_id": "C4315963", "aliases": ["Bone loss around teeth"], "types": ["T033"], "canonical_name": "Alveolar bone loss around teeth", "definition": "A decrease in the amount of alveolar bone around the root of a tooth. []"} {"concept_id": "C4316788", "aliases": ["Abnormal intestine morphology", "Abnormality of the intestine"], "types": ["T033"], "definition": "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. [HPO:probinson]", "canonical_name": "Enteropathy"} {"concept_id": "C4316799", "aliases": ["Von Meyenburg complexes", "Multiple biliary hamartomas"], "types": ["T191"], "definition": "Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver. [PMID:22110302]", "canonical_name": "Multiple bile duct hamartomas"} {"concept_id": "C4316811", "aliases": ["Abnormality of septum of nose", "Anomaly of nasal septum", "Anomaly of septum of nose", "Abnormality of the nasal septum"], "types": ["T190"], "canonical_name": "Abnormality of the nasal septum", "definition": "An abnormality of the nasal septum. [HPO:probinson]"} {"concept_id": "C4316870", "aliases": ["Abnormal eye", "Abnormality of the eye"], "types": ["T190"], "canonical_name": "Abnormality of the eye", "definition": "Any abnormality of the eye, including location, spacing, and intraocular abnormalities. [HPO:probinson]"} {"concept_id": "C4316878", "aliases": ["Eyelashes fell out", "Loss of eyelashes", "Milphosis", "Missing eyelashes"], "types": ["T033"], "definition": "This term refers to the loss of eyelashes that were previously present. [HPO:probinson]", "canonical_name": "Ciliary Madarosis"} {"concept_id": "C4316879", "aliases": ["Preretinal hemorrhage", "Preretinal heme"], "types": ["T047"], "definition": "An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. [UManchester:psergouniotis]", "canonical_name": "Preretinal haemorrhage"} {"concept_id": "C4316895", "aliases": [], "types": ["T046"], "definition": "Progression of anaphylaxis into systemic shock, which is characterized by significant reduction in tissue perfusion which leads to hypoxia and hypotension, and can lead to death if untreated.", "canonical_name": "Anaphylactic shock"} {"concept_id": "C4316903", "aliases": ["Petit mal seizure", "Petit mal", "Generalised non-motor seizure", "Absence seizure", "Generalised non-motor (absence) seizure", "Absence seizures", "Generalized non-motor (absence) seizure", "Brief seizures with staring spells"], "types": ["T047"], "definition": "Generalized seizure that manifests in a form of a brief episode of impairment of consciousness with or without accompanying motor phenomena such as clonic-tonic components, automatisms, or autonomic components.", "canonical_name": "Petit mal seizures"} {"concept_id": "C4316985", "aliases": ["Cerebellar oedema", "Oedema of the cerebellum", "Edema of the cerebellum"], "types": ["T047"], "canonical_name": "Cerebellar edema", "definition": "Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum. []"} {"concept_id": "C4316995", "aliases": [], "types": ["T047"], "definition": "Abnormally low levels of thyroid hormones due to a disorder originating within the thyroid gland.", "canonical_name": "Primary hypothyroidism"} {"concept_id": "C4317045", "aliases": ["Gluten sensitivity"], "types": ["T047"], "definition": "A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease. [HPO:probinson]", "canonical_name": "Gluten intolerance"} {"concept_id": "C4317093", "aliases": ["Low factor XI activity"], "types": ["T033"], "canonical_name": "Reduced factor XI activity", "definition": "Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. [HPO:probinson]"} {"concept_id": "C4317107", "aliases": ["Thyroid abnormality", "Abnormality of the thyroid gland"], "types": ["T033"], "canonical_name": "Abnormality of the thyroid gland", "definition": "An abnormality of the thyroid gland. [HPO:probinson]"} {"concept_id": "C4317112", "aliases": ["Generalised lipodystrophy", "Lipodystrophy, generalized", "Lipodystrophy, generalised"], "types": ["T047"], "definition": "Almost complete absence of subcutaneous and/or visceral adipose tissue.", "canonical_name": "Generalized lipodystrophy"} {"concept_id": "C4317123", "aliases": [], "types": ["T184"], "definition": "A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. [PMID:11580774]", "canonical_name": "Myoclonic seizure"} {"concept_id": "C4317126", "aliases": [], "types": ["T047"], "canonical_name": "Vitamin B3 deficiency"} {"concept_id": "C4317146", "aliases": ["Gastro-esophageal reflux", "Gastro-oesophageal reflux", "Acid reflux"], "types": ["T033"], "definition": "The backward flow of stomach acid contents into the esophagus (the tube that connects the mouth to the stomach).", "canonical_name": "Gastroesophageal reflux"} {"concept_id": "C4317152", "aliases": ["Chin skin dimple", "Chin dimples", "Gelasin of chin", "Chin dimple", "Chin butt", "Dimple chin", "Indentation of chin"], "types": ["T190"], "definition": "A persistent midline depression of the skin over the fat pad of the chin. [PMID:19125436]", "canonical_name": "Chin dent"} {"concept_id": "C4317153", "aliases": [], "types": ["T047"], "canonical_name": "Simple partial occipital seizures"} {"concept_id": "C4317320", "aliases": ["Reduced factor V activity", "Reduced coagulation factor V activity"], "types": ["T047"], "definition": "A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.", "canonical_name": "Factor V deficiency"} {"concept_id": "C4321245", "aliases": ["Cleft lip"], "types": ["T190"], "definition": "A gap in the lip or lips. []", "canonical_name": "Cleft of the lip"} {"concept_id": "C4321325", "aliases": [], "types": ["T033"], "definition": "Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. [PMID:27331311]", "canonical_name": "Lupus anticoagulant"} {"concept_id": "C4321352", "aliases": [], "types": ["T170"], "definition": "Class to represent frequency of phenotypic abnormalities within a patient cohort. []", "canonical_name": "Frequency"} {"concept_id": "C4321359", "aliases": ["Decreased levels of acid labile subunit", "Reduced insulin like growth factor binding protein acid labile subunit level", "Acid-labile subunit deficiency"], "types": ["T033"], "definition": "An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation. []", "canonical_name": "Reduced insulin like growth factor binding protein acid labile subunit concentration"} {"concept_id": "C4324277", "aliases": ["Myokymia orbicularis", "Orbicularis myokymia"], "types": ["T047"], "definition": "Involuntary, fine, continuous, undulating contractions of the eyelid. []", "canonical_name": "Eyelid myokymia"} {"concept_id": "C4324346", "aliases": ["Membranous tracheobronchomalacia"], "types": ["T047"], "canonical_name": "Excessive dynamic airway collapse", "definition": "Excessive anterior displacement of the tracheal and/or bronchial membranous wall. [ORCID:0000-0002-4095-8489]"} {"concept_id": "C4324557", "aliases": ["Increased immunoreactive trypsinogen"], "types": ["T033"], "canonical_name": "Increased circulating trypsinogen", "definition": "An abnormally high concentration of trypsinogen in the blood circulation. [PMID:27131402]"} {"concept_id": "C4324623", "aliases": [], "types": ["T048"], "definition": "An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound. []", "canonical_name": "Misophonia"} {"concept_id": "C4331262", "aliases": ["Rosette-forming glioneuronal tumour", "Rosette-forming glioneuronal tumor"], "types": ["T191"], "definition": "A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.", "canonical_name": "Rosette-forming glioneuronal neoplasm"} {"concept_id": "C4476521", "aliases": [], "types": ["T047"], "canonical_name": "Renal glomerular fibrosis"} {"concept_id": "C4476522", "aliases": [], "types": ["T033"], "canonical_name": "Oral soft tissue hyperplasia"} {"concept_id": "C4476523", "aliases": [], "types": ["T190"], "canonical_name": "Decreased projection of lower jaw"} {"concept_id": "C4476524", "aliases": [], "types": ["T190"], "canonical_name": "Decreased projection of mandible"} {"concept_id": "C4476525", "aliases": [], "types": ["T190"], "canonical_name": "Retrusion of lower jaw"} {"concept_id": "C4476526", "aliases": [], "types": ["T033"], "canonical_name": "High urine occult blood"} {"concept_id": "C4476527", "aliases": [], "types": ["T190"], "canonical_name": "Flat head"} {"concept_id": "C4476532", "aliases": [], "types": ["T190"], "canonical_name": "Dilatation of an abdominal artery", "definition": "Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta. [HPO:probinson]"} {"concept_id": "C4476534", "aliases": ["Subperiosteal erosions"], "types": ["T190"], "canonical_name": "Subperiosteal bone resorption", "definition": "Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone. [PMID:24849102]"} {"concept_id": "C4476535", "aliases": [], "types": ["T019"], "canonical_name": "Nostril coloboma"} {"concept_id": "C4476537", "aliases": [], "types": ["T033"], "canonical_name": "Reduced intrathoracic adipose tissue", "definition": "An abnormally reduced amount of adipose tissue in the thoracic cavity. []"} {"concept_id": "C4476538", "aliases": [], "types": ["T190"], "canonical_name": "Broadening of the distal radius"} {"concept_id": "C4476539", "aliases": [], "types": ["T190"], "canonical_name": "Glomerular subendothelial electron-dense deposits", "definition": "Electron dense deposits at the glomerular basement membrane, [Eurenomics:ewuehl, PMID:20301598, PMID:30085237]"} {"concept_id": "C4476540", "aliases": [], "types": ["T190"], "canonical_name": "Dilatation of the cerebral artery", "definition": "The presence of a localized dilatation or ballooning of a cerebral artery. [HPO:probinson]"} {"concept_id": "C4476543", "aliases": [], "types": ["T047"], "canonical_name": "Complete heart block with broad QRS complexes", "definition": "A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex. []"} {"concept_id": "C4476544", "aliases": [], "types": ["T033"], "canonical_name": "Tubulointerstitial scarring"} {"concept_id": "C4476545", "aliases": [], "types": ["T190"], "canonical_name": "Dilatation of the ventricular cavity", "definition": "A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. [HPO:probinson]"} {"concept_id": "C4476546", "aliases": [], "types": ["T033"], "canonical_name": "Forgetfullness"} {"concept_id": "C4476547", "aliases": [], "types": ["T190"], "canonical_name": "Saccular conjunctival dilatations", "definition": "Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva. [HPO:probinson]"} {"concept_id": "C4476549", "aliases": [], "types": ["T019"], "canonical_name": "Sacrococcygeal agenesis"} {"concept_id": "C4476550", "aliases": [], "types": ["T033"], "canonical_name": "Sudden loss of muscle tone"} {"concept_id": "C4476551", "aliases": [], "types": ["T190"], "canonical_name": "Dilatation of the sinus of Valsalva", "definition": "Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. [UBERON_0003707]"} {"concept_id": "C4476552", "aliases": [], "types": ["T190"], "canonical_name": "Dilatation of mesenteric artery", "definition": "Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery . [HPO:probinson]"} {"concept_id": "C4476553", "aliases": [], "types": ["T190"], "canonical_name": "Atrial septal dilatation", "definition": "A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. [HPO:probinson, PMID:7758185]"} {"concept_id": "C4476554", "aliases": [], "types": ["T190"], "canonical_name": "Carotid artery dilatation", "definition": "A dilatation (balooning or bulging out of the vessel wall) of a carotid artery. [HPO:probinson]"} {"concept_id": "C4476555", "aliases": ["Renal C3 deposition"], "types": ["T033"], "canonical_name": "Glomerular C3 deposition", "definition": "The presence of complement 3 deposits in the glomerulus. [Eurenomics:ewuehl]"} {"concept_id": "C4476556", "aliases": [], "types": ["T190"], "canonical_name": "Dilatation of the fusiform descending thoracic aorta"} {"concept_id": "C4476557", "aliases": [], "types": ["T190"], "canonical_name": "Dilatation of the saccular descending thoracic aorta"} {"concept_id": "C4476558", "aliases": [], "types": ["T033"], "canonical_name": "Hypothalamic gliosis", "definition": "Focal proliferation of glial cells in the hypothalamus. [HPO:probinson, PMID:26530930]"} {"concept_id": "C4476559", "aliases": ["Oedema of the basal ganglia", "Edema of the basal ganglia", "Basal ganglia oedema"], "types": ["T047"], "canonical_name": "Basal ganglia edema", "definition": "Swelling within the basal ganglia due to the accumulation of fluid. []"} {"concept_id": "C4476560", "aliases": ["Edema of the thalamus", "Oedema of the thalamus", "Thalamic oedema"], "types": ["T184"], "canonical_name": "Thalamic edema", "definition": "Swelling within the thalamus due to the accumulation of fluid. []"} {"concept_id": "C4476561", "aliases": [], "types": ["T033"], "canonical_name": "Thalamic calcification", "definition": "Calcium deposition in the thalamus. []"} {"concept_id": "C4476562", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of mesenteric lymph nodes", "definition": "A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery. []"} {"concept_id": "C4476563", "aliases": [], "types": ["T033"], "canonical_name": "Enlarged mesenteric lymph node", "definition": "Increase in size of one or more mesenteric lymph nodes. []"} {"concept_id": "C4476564", "aliases": ["Abnormal lactate level by magnetic resonance spectroscopy"], "types": ["T033"], "canonical_name": "Abnormal brain lactate level by MRS", "definition": "A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). []"} {"concept_id": "C4476565", "aliases": ["Reduced brain lactate level by magnetic resonance spectroscopy"], "types": ["T033"], "canonical_name": "Reduced brain lactate level by MRS", "definition": "A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). []"} {"concept_id": "C4476566", "aliases": ["Abnormal brain choline level by magnetic resonance spectroscopy"], "types": ["T033"], "canonical_name": "Abnormal brain choline level by MRS", "definition": "A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). []"} {"concept_id": "C4476567", "aliases": ["Reduced brain choline level by magnetic resonance spectroscopy"], "types": ["T033"], "canonical_name": "Reduced brain choline level by MRS", "definition": "An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). []"} {"concept_id": "C4476568", "aliases": ["Abnormal brain creatine level by magnetic resonance spectroscopy"], "types": ["T033"], "canonical_name": "Abnormal brain creatine level by MRS"} {"concept_id": "C4476569", "aliases": ["Elevated brain creatine level by magnetic resonance spectroscopy"], "types": ["T033"], "canonical_name": "Elevated brain creatine level by MRS", "definition": "An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). []"} {"concept_id": "C4476570", "aliases": ["Reduced brain creatine level by magnetic resonance spectroscopy", "Low brain creatine phosphate"], "types": ["T033"], "canonical_name": "Reduced brain creatine level by MRS", "definition": "A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). [PMID:12557293, PMID:15625559]"} {"concept_id": "C4476571", "aliases": ["Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy"], "types": ["T033"], "canonical_name": "Abnormal brain N-acetyl aspartate level by MRS", "definition": "A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). []"} {"concept_id": "C4476572", "aliases": ["Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy"], "types": ["T033"], "canonical_name": "Elevated brain N-acetyl aspartate level by MRS", "definition": "An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). []"} {"concept_id": "C4476573", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of olfactory lobe morphology", "definition": "A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell. []"} {"concept_id": "C4476574", "aliases": ["Atrophy of the hypothalamus"], "types": ["T033"], "canonical_name": "Hypothalamic atrophy", "definition": "Partial or complete wasting (loss) of hypothalamus tissue that was once present. []"} {"concept_id": "C4476575", "aliases": ["Multilocular splenic abscess"], "types": ["T047"], "canonical_name": "Multifocal splenic abscess", "definition": "Multiple abscess lesions in the spleen. []"} {"concept_id": "C4476576", "aliases": ["Solitary splenic abscess", "Unilocular splenic abscess"], "types": ["T047"], "canonical_name": "Unifocal splenic abscess", "definition": "Single (solitary) abscess in the spleen. []"} {"concept_id": "C4476577", "aliases": [], "types": ["T047"], "canonical_name": "Incomitant strabismus", "definition": "Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4476578", "aliases": [], "types": ["T033"], "canonical_name": "U wave inversion", "definition": "Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves. []"} {"concept_id": "C4476579", "aliases": [], "types": ["T033"], "canonical_name": "Exercise-induced U wave inversion", "definition": "U wave inversion that is induced by exercise stress testing. [PMID:22665396]"} {"concept_id": "C4476580", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal QRS complex", "definition": "An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram. []"} {"concept_id": "C4476581", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal QRS voltage", "definition": "Abnormal amplitude of the QRS complex of the electrocardiogram (EKG). []"} {"concept_id": "C4476582", "aliases": ["Abnormal cutaneous elastic fibre morphology"], "types": ["T190"], "canonical_name": "Abnormal cutaneous elastic fiber morphology", "definition": "Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils. [PMID:12082143, PMID:21738362]"} {"concept_id": "C4476583", "aliases": ["Bloody mucoid diarrhoea"], "types": ["T033"], "canonical_name": "Bloody mucoid diarrhea", "definition": "Passage of many stools containing blood and mucus. []"} {"concept_id": "C4476584", "aliases": [], "types": ["T033"], "canonical_name": "Delayed recoil upon stretching of skin", "definition": "Area of skin requiring an increased amount of time to return to its original shape after being stretched. []"} {"concept_id": "C4476585", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal large intestinal mucosa morphology", "definition": "A structural anomaly of the mucous lining of the large intestine. []"} {"concept_id": "C4476586", "aliases": ["Peripapillary exudation"], "types": ["T033"], "canonical_name": "Peripapillary exudate", "definition": "A retinal exudate in the area surrounding the optic nerve head. []"} {"concept_id": "C4476587", "aliases": [], "types": ["T033"], "canonical_name": "Disciform macular scar", "definition": "A subretinal scar with a disc-like shape in the region of the macula. []"} {"concept_id": "C4476588", "aliases": ["Hypothalamic dysgenesis"], "types": ["T019"], "canonical_name": "Dysgenesis of the hypothalamus", "definition": "Structural abnormality of the hypothalamus related to defective development. []"} {"concept_id": "C4476589", "aliases": ["Thalamic dysgenesis"], "types": ["T190"], "canonical_name": "Dysgenesis of the thalamus", "definition": "Structural abnormality of the thalamus related to defective development. []"} {"concept_id": "C4476590", "aliases": ["Abnormality of hippocampus morphology", "Abnormal morphology of the hippocampus"], "types": ["T190"], "canonical_name": "Abnormal hippocampus morphology", "definition": "Any structural anomaly of the hippocampus, []"} {"concept_id": "C4476591", "aliases": ["Hippocampal dysgenesis"], "types": ["T019"], "canonical_name": "Dysgenesis of the hippocampus", "definition": "Structural abnormality of the hippocampus related to defective development. []"} {"concept_id": "C4476592", "aliases": ["Basal ganglia dysgenesis"], "types": ["T019"], "canonical_name": "Dysgenesis of the basal ganglia", "definition": "Structural abnormality of the basal ganglia related to defective development. []"} {"concept_id": "C4476593", "aliases": [], "types": ["T020"], "canonical_name": "Umbilicated nodule", "definition": "A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated). [PMID:24050295]"} {"concept_id": "C4476594", "aliases": [], "types": ["T019"], "canonical_name": "Nevus roseus", "definition": "A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life. [PMID:22483320, PMID:25864701]"} {"concept_id": "C4476595", "aliases": ["Reduced erythrocyte pyruvate kinase activity"], "types": ["T033"], "canonical_name": "Reduced red cell pyruvate kinase level", "definition": "Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate. [PMID:7949104]"} {"concept_id": "C4476596", "aliases": [], "types": ["T033"], "canonical_name": "Placoid macular lesion", "definition": "Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula. []"} {"concept_id": "C4476597", "aliases": ["Flattened rete pegs", "Flattened rete ridges"], "types": ["T190"], "canonical_name": "Rete ridge flattening", "definition": "Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance. [PMID:20548894]"} {"concept_id": "C4476598", "aliases": [], "types": ["T033"], "canonical_name": "Violet lip discoloration", "definition": "An alteration of the color of the lip to take on a violet color. This term does not include cyanosis. [PMID:24346922]"} {"concept_id": "C4476599", "aliases": ["Sawtoothed acanthosis"], "types": ["T190"], "canonical_name": "Sawtooth acanthosis", "definition": "A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis. [PMID:19061615]"} {"concept_id": "C4476600", "aliases": [], "types": ["T033"], "canonical_name": "White streaks/specks on enamel.", "definition": "Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks. []"} {"concept_id": "C4476601", "aliases": [], "types": ["T033"], "canonical_name": "White lesion of the oral mucosa", "definition": "White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white. []"} {"concept_id": "C4476602", "aliases": [], "types": ["T033"], "canonical_name": "Reduced intraabdominal adipose tissue", "definition": "An abnormally reduced amount of adipose tissue in the abdominal cavity. []"} {"concept_id": "C4476603", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal small intestinal mucosa morphology", "definition": "A structural anomaly of the mucous lining of the small intestine. []"} {"concept_id": "C4476604", "aliases": ["Lactase deficiency"], "types": ["T033"], "definition": "Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges. []", "canonical_name": "Decreased small intestinal mucosa lactase level"} {"concept_id": "C4476605", "aliases": ["Abnormal circulating oestrogen level", "Abnormal estrogen level", "Abnormal oestrogen level"], "types": ["T033"], "canonical_name": "Abnormal circulating estrogen level", "definition": "A deviation from normal concentration of the hormone estrogen in the blood circulation. []"} {"concept_id": "C4476606", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal serum estriol", "definition": "A deviation from normal concentration of estriol in the circulation. []"} {"concept_id": "C4476607", "aliases": [], "types": ["T033"], "canonical_name": "Increased serum estriol", "definition": "An elevation above normal limits of estriol concentration in the circulation. []"} {"concept_id": "C4476608", "aliases": [], "types": ["T033"], "canonical_name": "Decreased serum estriol", "definition": "A reduction below normal limits of estriol in the circulation. []"} {"concept_id": "C4476609", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal serum estrone", "definition": "A deviation from the normal concentration of circulating estrone. []"} {"concept_id": "C4476610", "aliases": [], "types": ["T033"], "canonical_name": "Increased serum estrone", "definition": "An elevation above normal limits of the concentration of estrone in the circulation. []"} {"concept_id": "C4476611", "aliases": [], "types": ["T033"], "canonical_name": "Decreased serum estrone", "definition": "A reduction below normal limits of the concentration of estrone in the circulation. []"} {"concept_id": "C4476612", "aliases": ["Gingival calcifications"], "types": ["T033"], "canonical_name": "Gingival calcification", "definition": "Ectopic deposition of calcium salts found in the gingiva. [PMID:25928877]"} {"concept_id": "C4476613", "aliases": [], "types": ["T047"], "canonical_name": "Foveal degeneration", "definition": "Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina. []"} {"concept_id": "C4476614", "aliases": ["Beaten metal macular appearance", "Beaten-bronze macular sheen", "Beaten-bronze macular appearance"], "types": ["T033"], "canonical_name": "Beaten bronze macular sheen", "definition": "A shiny appearance of the macula, which is often called a beaten bronze appearance. []"} {"concept_id": "C4476615", "aliases": [], "types": ["T033"], "canonical_name": "Dark choroid", "definition": "A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid). [PMID:27739528, PMID:7248243]"} {"concept_id": "C4476616", "aliases": [], "types": ["T046"], "canonical_name": "Atrophic muscularis propria", "definition": "Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis. [PMID:18329691]"} {"concept_id": "C4476617", "aliases": [], "types": ["T047"], "canonical_name": "Autonomic visceral myopathy"} {"concept_id": "C4476618", "aliases": [], "types": ["T047"], "canonical_name": "Degenerative enteric myopathy"} {"concept_id": "C4476619", "aliases": ["Poor visual behaviour for age", "Abnormal visual behavior for age", "Abnormal visual behaviour for age"], "types": ["T033"], "canonical_name": "Poor visual behavior for age", "definition": "Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones. []"} {"concept_id": "C4476620", "aliases": ["Collateral biliary veins", "Collateral biliary circulation"], "types": ["T190"], "canonical_name": "Portosystemic collateral veins", "definition": "Presence of biliary veins that serve as a collateral channel to the systemic circulation []"} {"concept_id": "C4476621", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of hepatobiliary system physiology", "definition": "A functional anomaly of the hepatobiliary system []"} {"concept_id": "C4476622", "aliases": ["Dependency on IV nutrition"], "types": ["T033"], "canonical_name": "Dependency on intravenous nutrition", "definition": "Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status. [PMID:16770168]"} {"concept_id": "C4476623", "aliases": [], "types": ["T033"], "canonical_name": "Hyperautofluorescent retinal lesion", "definition": "Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. []"} {"concept_id": "C4476624", "aliases": ["Hypo-autofluorescent retinal lesion"], "types": ["T033"], "canonical_name": "Hypoautofluorescent retinal lesion", "definition": "Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. []"} {"concept_id": "C4476625", "aliases": [], "types": ["T048"], "canonical_name": "Abnormal temper tantrums", "definition": "A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual. []"} {"concept_id": "C4476626", "aliases": [], "types": ["T048"], "canonical_name": "Frequent temper tantrums", "definition": "Temper tantrums that occur more frequently than usual. []"} {"concept_id": "C4476627", "aliases": [], "types": ["T048"], "canonical_name": "Severe temper tantrums", "definition": "Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes. []"} {"concept_id": "C4476628", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of optic chiasm morphology", "definition": "A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves. []"} {"concept_id": "C4476629", "aliases": ["Increased number of elastic fibres in the dermis"], "types": ["T033"], "canonical_name": "Increased number of elastic fibers in the dermis", "definition": "An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods. [PMID:25072684]"} {"concept_id": "C4476630", "aliases": ["Clumping of elastic fibres in the dermis"], "types": ["T033"], "canonical_name": "Clumping of elastic fibers in the dermis", "definition": "Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis). [PMID:25072684]"} {"concept_id": "C4476631", "aliases": ["Thickened elastic fibres in the dermis"], "types": ["T033"], "canonical_name": "Thickened elastic fibers in the dermis", "definition": "An increase of the diameter of elastic fibers in the dermis. []"} {"concept_id": "C4476632", "aliases": ["Fragmented elastic fibres in the dermis"], "types": ["T033"], "canonical_name": "Fragmented elastic fibers in the dermis", "definition": "Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers. []"} {"concept_id": "C4476633", "aliases": [], "types": ["T033"], "canonical_name": "Smooth septal thickening on pulmonary HRCT", "definition": "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa. []"} {"concept_id": "C4476634", "aliases": [], "types": ["T033"], "canonical_name": "Nodular septal thickening on pulmonary HRCT", "definition": "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa. []"} {"concept_id": "C4476635", "aliases": [], "types": ["T033"], "canonical_name": "Irregular septal thickening on pulmonary HRCT", "definition": "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture. []"} {"concept_id": "C4476636", "aliases": [], "types": ["T033"], "canonical_name": "Intralobular interstitial thickening", "definition": "A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance. []"} {"concept_id": "C4476637", "aliases": [], "types": ["T033"], "canonical_name": "Peribronchovascular interstitial thickening", "definition": "Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography. []"} {"concept_id": "C4476638", "aliases": ["Subpleural scarring"], "types": ["T033"], "canonical_name": "Subpleural interstitial thickening", "definition": "Increase in thickness of the subpleural interstitium. []"} {"concept_id": "C4476639", "aliases": [], "types": ["T033"], "canonical_name": "Ground-glass opacification on pulmonary HRCT"} {"concept_id": "C4476640", "aliases": ["Centrilobular groundglass opacification", "Centrilobular groundglass opacity"], "types": ["T033"], "canonical_name": "Centrilobular ground-glass opacification on pulmonary HRCT", "definition": "A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules. []"} {"concept_id": "C4476641", "aliases": [], "types": ["T047"], "canonical_name": "Abdominal aseptic abscess", "definition": "An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently. [PMID:22526827]"} {"concept_id": "C4476642", "aliases": ["Localised area of pendulous skin"], "types": ["T190"], "canonical_name": "Localized area of pendulous skin", "definition": "A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region. []"} {"concept_id": "C4476643", "aliases": ["Primarily generalized tonic-clonic seizures", "Generalized tonic-clonic seizure without focal onset", "Generalized tonic-clonic seizures without focal onset", "Generalized tonic-clonic seizure without partial onset", "Primary generalized tonic-clonic seizure", "Primarily generalised tonic-clonic seizures", "Generalized-onset tonic-clonic seizure", "Primary generalised tonic-clonic seizures", "Generalised-onset tonic-clonic seizure", "Primary generalised tonic-clonic seizure", "Generalised tonic-clonic seizure without partial onset", "Generalised tonic-clonic seizure without focal onset", "Bilateral tonic-clonic seizure with generalised onset", "Primary generalized tonic-clonic seizures", "Generalised tonic-clonic seizures without focal onset"], "types": ["T184"], "canonical_name": "Bilateral tonic-clonic seizure with generalized onset", "definition": "A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. [PMID:20196795, PMID:28276060, PMID:28276064, PMID:6790275]"} {"concept_id": "C4476645", "aliases": [], "types": ["T033"], "canonical_name": "Subtentorial periventricular white matter hyperdensity", "definition": "Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum). []"} {"concept_id": "C4476646", "aliases": ["Central hernia"], "types": ["T019"], "canonical_name": "Central diaphragmatic hernia", "definition": "A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present. []"} {"concept_id": "C4476647", "aliases": [], "types": ["T047"], "canonical_name": "Inflammatory cap polyp", "definition": "A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp. []"} {"concept_id": "C4476648", "aliases": ["Muscle fibre actin filament accumulation"], "types": ["T033"], "canonical_name": "Muscle fiber actin filament accumulation", "definition": "Accumulation in muscle cells of filaments composed of actin. []"} {"concept_id": "C4476649", "aliases": ["Abnormal apolipoprotein level"], "types": ["T033"], "canonical_name": "Abnormal circulating apolipoprotein concentration", "definition": "A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation. []"} {"concept_id": "C4476650", "aliases": ["Elevated apolipoprotein A-IV level"], "types": ["T033"], "canonical_name": "Elevated circulating apolipoprotein A-IV concentration", "definition": "An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II. []"} {"concept_id": "C4476651", "aliases": ["Triggered by breastfeeding", "Breastfeeding triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by breast feeding", "definition": "Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant. []"} {"concept_id": "C4476652", "aliases": ["Cold triggered symptoms", "Triggered by cold temperature"], "types": ["T033"], "canonical_name": "Triggered by cold", "definition": "Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings. []"} {"concept_id": "C4476653", "aliases": ["Triggered by dehydration", "Dehydration triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by dehydration", "definition": "Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water. []"} {"concept_id": "C4476654", "aliases": ["Carbohydrate ingestion triggered symptoms", "Triggered by carbohydrate ingestion"], "types": ["T033"], "canonical_name": "Triggered by carbohydrate ingestion", "definition": "Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates. []"} {"concept_id": "C4476655", "aliases": ["Trigged by fruit sugar"], "types": ["T033"], "canonical_name": "Triggered by fructose ingestion", "definition": "Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose. []"} {"concept_id": "C4476656", "aliases": [], "types": ["T033"], "canonical_name": "Triggered by glucose ingestion", "definition": "Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose. []"} {"concept_id": "C4476657", "aliases": ["Ethanol ingestion triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by ethanol ingestion", "definition": "Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol. []"} {"concept_id": "C4476658", "aliases": [], "types": ["T033"], "canonical_name": "Triggered by alcohol ingestion"} {"concept_id": "C4476659", "aliases": ["Fasting triggered symptoms", "Fasting triggered attacks", "Triggered by fasting"], "types": ["T033"], "canonical_name": "Triggered by fasting", "definition": "Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting). []"} {"concept_id": "C4476660", "aliases": ["Triggered by ingestion of lactose-containing milk"], "types": ["T033"], "canonical_name": "Triggered by galactose ingestion", "definition": "Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose. []"} {"concept_id": "C4476661", "aliases": ["Heat triggered symptoms", "Triggered by heat"], "types": ["T033"], "canonical_name": "Triggered by heat", "definition": "Applies to a sign or symptom that is provoked or brought about by exposure to heat. []"} {"concept_id": "C4476662", "aliases": ["Triggered by fever", "Febrile illness triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by febrile illness", "definition": "Applies to a sign or symptom that is provoked or brought about by febrile illness. []"} {"concept_id": "C4476663", "aliases": ["Heavy meal triggered symptoms", "Triggered by overeating"], "types": ["T033"], "canonical_name": "Triggered by heavy meal", "definition": "Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal. []"} {"concept_id": "C4476664", "aliases": ["Triggered by high-fat diet", "High-fat diet triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by high-fat diet", "definition": "Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids. []"} {"concept_id": "C4476665", "aliases": ["Hyperventilation triggered symptoms", "Triggered by hyperventilation"], "types": ["T033"], "canonical_name": "Triggered by hyperventilation", "definition": "Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing. []"} {"concept_id": "C4476666", "aliases": ["Triggered by immunization", "Triggered by vaccination", "Triggered by immunisation", "Vaccination triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by vaccination", "definition": "Applies to a sign or symptom that is provoked or brought about by a vaccination. [PMID:26633955]"} {"concept_id": "C4476667", "aliases": ["Triggered by period", "Menstruation triggered symptoms", "Triggered by monthly period"], "types": ["T033"], "canonical_name": "Triggered by menstruation", "definition": "Applies to a sign or symptom that is provoked or brought about by menstruation in a female. []"} {"concept_id": "C4476668", "aliases": ["Pregnancy triggered symptoms", "Triggered by pregnancy"], "types": ["T033"], "canonical_name": "Triggered by pregnancy", "definition": "Applies to a sign or symptom that is provoked or brought about by pregnancy in a female. []"} {"concept_id": "C4476669", "aliases": ["Sleep deprivation triggered symptoms", "Triggered by sleep deprivation"], "types": ["T033"], "canonical_name": "Triggered by sleep deprivation", "definition": "Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep. []"} {"concept_id": "C4476670", "aliases": ["Triggered by tobacco use", "Triggered by smoking", "Triggered by cigarette consumption", "Smoking triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by smoking", "definition": "Applies to a sign or symptom that is provoked or brought about by smoking. []"} {"concept_id": "C4476671", "aliases": ["Triggered by Na ingestion", "Triggered by sodium intake", "Sodium intake triggered attacks", "Triggered by Na+ ingestion", "Sodium ingestion triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by sodium ingestion", "definition": "Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium. []"} {"concept_id": "C4476672", "aliases": [], "types": ["T033"], "canonical_name": "Triggered by salt ingestion"} {"concept_id": "C4476673", "aliases": ["Sound triggered symptoms", "Triggered by sound"], "types": ["T033"], "canonical_name": "Triggered by sound", "definition": "Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise. []"} {"concept_id": "C4476674", "aliases": ["Triggered by stress", "Stress triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by stress", "definition": "Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension. []"} {"concept_id": "C4476675", "aliases": ["Triggered by excitement", "Excitement triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by excitement", "definition": "Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled. []"} {"concept_id": "C4476676", "aliases": [], "types": ["T033"], "canonical_name": "Triggered by startle"} {"concept_id": "C4476677", "aliases": ["Kinesigenic", "Triggered by sudden movement", "Sudden movement triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by sudden movement", "definition": "Applies to a sign or symptom that is provoked or brought about by a sudden movement. []"} {"concept_id": "C4476678", "aliases": ["Vestibular stimulation triggered attacks", "Vestibular stimulation triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by vestibular stimulation", "definition": "Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair. []"} {"concept_id": "C4476679", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of synovial bursa morphology", "definition": "A structural anomaly of a synovial bursa. []"} {"concept_id": "C4476680", "aliases": ["NREM parasomnia"], "types": ["T047"], "canonical_name": "Non-rapid eye movement parasomnia", "definition": "A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep). [PMID:27647645]"} {"concept_id": "C4476681", "aliases": ["Pregnancy relieves symptoms"], "types": ["T033"], "canonical_name": "Ameliorated by pregnancy", "definition": "Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female. []"} {"concept_id": "C4476682", "aliases": ["Heat improves condition", "Heat improves symptom"], "types": ["T033"], "canonical_name": "Ameliorated by heat", "definition": "Applies to a sign or symptom that is improved or made more bearable by heat (including fever). []"} {"concept_id": "C4476683", "aliases": [], "types": ["T033"], "canonical_name": "Ameliorated by carbohydrate ingestion", "definition": "Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar). []"} {"concept_id": "C4476684", "aliases": ["Functional abnormality of the oesophagus", "Abnormality of esophagus physiology", "Abnormality of oesophagus physiology", "Functional abnormality of the esophagus"], "types": ["T033"], "canonical_name": "Abnormal esophagus physiology", "definition": "Any physiological abnormality of the esophagus. []"} {"concept_id": "C4476685", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of skin adnexa physiology", "definition": "Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. []"} {"concept_id": "C4476686", "aliases": [], "types": ["T033"], "canonical_name": "Cold-induced sweating", "definition": "Sweating provoked by cold temperature rather than by heat. []"} {"concept_id": "C4476687", "aliases": [], "types": ["T201"], "canonical_name": "Sleep-interrupting", "definition": "Applied to pain that wakes the affecting individual from sleep. []"} {"concept_id": "C4476688", "aliases": ["Worsened by activity", "Aggravated by exertion", "Aggravated by exercise", "Worse with activity"], "types": ["T033"], "canonical_name": "Aggravated by activity", "definition": "Applied to a sign or symptom that is aggravated by activity, exertion, or exercise. []"} {"concept_id": "C4476689", "aliases": [], "types": ["T082"], "canonical_name": "Upper-body predominance", "definition": "Applies to an abnormality that affects the arms, trunk, head more than the legs. []"} {"concept_id": "C4476690", "aliases": [], "types": ["T082"], "canonical_name": "Lower-body predominance", "definition": "Applies to an abnormality that affects the legs more than the arms, trunk, head. []"} {"concept_id": "C4476691", "aliases": [], "types": ["T082"], "canonical_name": "Distributed along Blaschko lines", "definition": "Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body. [PMID:17061271]"} {"concept_id": "C4476692", "aliases": ["Radicular"], "types": ["T082"], "canonical_name": "Dermatomal", "definition": "Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution. [PMID:19772560]"} {"concept_id": "C4476693", "aliases": [], "types": ["T082"], "canonical_name": "Herpetiform", "definition": "Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections. []"} {"concept_id": "C4476694", "aliases": [], "types": ["T079"], "canonical_name": "Quotidian", "definition": "Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours). []"} {"concept_id": "C4476695", "aliases": [], "types": ["T079"], "canonical_name": "Acute emergence over minutes", "definition": "Acute appearance of disease manifestations in a period of minutes. []"} {"concept_id": "C4476696", "aliases": [], "types": ["T079"], "canonical_name": "Acute emergence over hours", "definition": "Acute appearance of disease manifestations in a period of hours. []"} {"concept_id": "C4476697", "aliases": [], "types": ["T079"], "canonical_name": "Acute emergence over days", "definition": "Acute appearance of disease manifestations in a period of days. []"} {"concept_id": "C4476698", "aliases": [], "types": ["T190"], "canonical_name": "Oval pupil", "definition": "An abnormal pupil shape that is elliptical, i.e., egg-like. []"} {"concept_id": "C4476699", "aliases": [], "types": ["T033"], "canonical_name": "Exacerbated by head trauma", "definition": "Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma. []"} {"concept_id": "C4476700", "aliases": ["Fluorescein leakage"], "types": ["T033"], "canonical_name": "Leakage of dye on fundus fluorescein angiography", "definition": "Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins. []"} {"concept_id": "C4476701", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal arterial physiology", "definition": "An anomaly of arterial function. []"} {"concept_id": "C4476702", "aliases": [], "types": ["T033"], "canonical_name": "Decreased renal parenchymal thickness", "definition": "Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. [PMID:19254392, PMID:2117353]"} {"concept_id": "C4476703", "aliases": ["Anti-GAD antibody positivity"], "types": ["T034"], "canonical_name": "Anti-glutamic acid decarboxylase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. [PMID:27356651]"} {"concept_id": "C4476704", "aliases": ["Downgaze paresis", "Supranuclear downgaze palsy"], "types": ["T047"], "canonical_name": "Downgaze palsy", "definition": "A limitation of the ability to direct one's gaze below the horizontal meridian. [PMID:8913186]"} {"concept_id": "C4476705", "aliases": ["Upgaze paresis", "Supranuclear upgaze palsy"], "types": ["T047"], "canonical_name": "Upgaze palsy", "definition": "A limitation of the ability to direct one's gaze above the horizontal meridian. []"} {"concept_id": "C4476706", "aliases": ["Abnormality of the cortex of foot bones"], "types": ["T190"], "canonical_name": "Abnormality of foot cortical bone", "definition": "An anomaly of the outer shell (cortex) of a foot bone. []"} {"concept_id": "C4476707", "aliases": [], "types": ["T190"], "canonical_name": "Cortical thinning of foot bones", "definition": "A reduction in the thickness of the outer shell (cortex) of foot bones. [PMID:24055421]"} {"concept_id": "C4476708", "aliases": ["Emotion triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by emotion", "definition": "Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion). []"} {"concept_id": "C4476709", "aliases": [], "types": ["T033"], "canonical_name": "Delayed ability to stand", "definition": "A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. [PMID:23321410, PMID:27354457]"} {"concept_id": "C4476710", "aliases": [], "types": ["T033"], "canonical_name": "Delayed ability to sit", "definition": "A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. [PMID:23321410, PMID:27354457]"} {"concept_id": "C4476711", "aliases": ["Ciliary limbus", "Circumlimbal hyperaemia"], "types": ["T033"], "canonical_name": "Circumlimbal hyperemia", "definition": "A ring of redness at the limbus of the eye, the border between the cornea and the sclera. []"} {"concept_id": "C4476712", "aliases": ["Superficial episcleral hypaeremia"], "types": ["T033"], "canonical_name": "Superficial episcleral hyperemia", "definition": "Prominence of blood vessels of the superficial episcleral tissues. []"} {"concept_id": "C4476713", "aliases": ["Deep episcleral hyperaemia"], "types": ["T033"], "canonical_name": "Deep episcleral hyperemia", "definition": "Prominence of blood vessels of the deep episcleral tissues. []"} {"concept_id": "C4476714", "aliases": [], "types": ["T047"], "canonical_name": "Interlobular bile duct destruction", "definition": "Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). [PMID:16177252]"} {"concept_id": "C4476715", "aliases": ["Abnormality of circulating B2M level", "Abnormality of circulating beta2-m level", "Abnormality of circulating beta2m level", "Abnormality of circulating beta2 microglobulin level"], "types": ["T033"], "canonical_name": "Abnormality of circulating beta-2-microglobulin level", "definition": "A deviation from the normal concentration of beta-2-microglobulin in the blood. [PMID:16166103]"} {"concept_id": "C4476716", "aliases": ["Elevated circulating beta-2-microglobulin level"], "types": ["T033"], "canonical_name": "Increased circulating beta-2-microglobulin level", "definition": "Elevated concentration of beta-2-microglobulin in the blood. []"} {"concept_id": "C4476717", "aliases": ["Reduced circulating beta-2-microglobulin level"], "types": ["T033"], "canonical_name": "Decreased circulating beta-2-microglobulin level", "definition": "Reduced concentration of beta-2-microglobulin in the blood. []"} {"concept_id": "C4476718", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the corneal limbus", "definition": "An anomaly of the margin of the cornea overlapped by the sclera. []"} {"concept_id": "C4476719", "aliases": ["Limbal oedema"], "types": ["T046"], "canonical_name": "Limbal edema", "definition": "Swelling of the margin of the cornea overlapped by the sclera. []"} {"concept_id": "C4476720", "aliases": [], "types": ["T190"], "canonical_name": "Giant conjunctival papillae", "definition": "Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein. [PMID:26278858]"} {"concept_id": "C4476721", "aliases": ["Recurrent interdigital tinea"], "types": ["T033"], "canonical_name": "Recurrent interdigital mycosis", "definition": "A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers. []"} {"concept_id": "C4476722", "aliases": [], "types": ["T045"], "canonical_name": "Autosomal dominant germline de novo mutation", "definition": "Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation. []"} {"concept_id": "C4476723", "aliases": ["Anti-MND antibodies"], "types": ["T034"], "canonical_name": "Anti-multiple nuclear dots antibody positivity", "definition": "A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells. [PMID:11882049, PMID:12848948]"} {"concept_id": "C4476724", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal cellular phenotype", "definition": "An anomaly of cellular morphology or physiology. []"} {"concept_id": "C4476727", "aliases": ["Fragmentary myoclonus"], "types": ["T184"], "canonical_name": "Erratic myoclonus", "definition": "A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous. []"} {"concept_id": "C4476728", "aliases": ["Polygonal calices", "Polygonal-shaped calices"], "types": ["T190"], "canonical_name": "Polygonal renal calices", "definition": "An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). []"} {"concept_id": "C4476729", "aliases": [], "types": ["T033"], "canonical_name": "Polycalycosis", "definition": "Increased number of calices of the kidney. [PMID:19002724]"} {"concept_id": "C4476730", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of medullary pyramid morphology", "definition": "A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. []"} {"concept_id": "C4476731", "aliases": ["Hypoplasia of the medullary pyramids"], "types": ["T019"], "canonical_name": "Renal medullary pyramid hypoplasia", "definition": "Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. [PMID:16293636]"} {"concept_id": "C4476732", "aliases": ["Endocapillary hypercellularity"], "types": ["T190"], "canonical_name": "Glomerular endocapillary hypercellularity", "definition": "Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. [PMID:19571790, PMID:32866505]"} {"concept_id": "C4476733", "aliases": ["Extracapillary hypercellularity", "Extracapillary glomerular hypercellularity"], "types": ["T033"], "canonical_name": "Glomerular extracapillary hypercellularity", "definition": "Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. []"} {"concept_id": "C4476734", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of growth plate morphology", "definition": "A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone). []"} {"concept_id": "C4476735", "aliases": [], "types": ["T033"], "canonical_name": "Thick growth plates", "definition": "Increased thickness (dimension along the axis of the bone) of the growth plate. []"} {"concept_id": "C4476736", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal ossification of the sacrum", "definition": "Abnormal bone tissue formation (ossification) affecting the sacrum. []"} {"concept_id": "C4476737", "aliases": [], "types": ["T033"], "canonical_name": "Delayed ossification of the sacrum", "definition": "Formation of the sacrum bone tissue occurs later than age-adjusted norms. []"} {"concept_id": "C4476738", "aliases": [], "types": ["T033"], "canonical_name": "Interictal EEG abnormality", "definition": "Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. [PMID:15961864, PMID:25012363]"} {"concept_id": "C4476739", "aliases": [], "types": ["T019"], "canonical_name": "Duplicated odontoid process", "definition": "The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates. []"} {"concept_id": "C4476740", "aliases": [], "types": ["T190"], "canonical_name": "Orthotopic os odontoideum", "definition": "Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus. []"} {"concept_id": "C4476741", "aliases": ["Glutaminuria"], "types": ["T033"], "canonical_name": "Hyperglutaminuria", "definition": "An increased concentration of glutamine in the urine. [PMID:11283793]"} {"concept_id": "C4476742", "aliases": ["Triggered by physical exercise", "Exertion triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by exertion", "definition": "Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise. []"} {"concept_id": "C4476743", "aliases": ["TPOAbs", "Anti-TPO antibody positivity"], "types": ["T034"], "canonical_name": "Anti-thyroid peroxidase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. [ORCID:0000-0002-3387-1836, PMID:33144894, PMID:33796145]"} {"concept_id": "C4476744", "aliases": [], "types": ["T034"], "canonical_name": "Anti-pituitary antibody positivity", "definition": "Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function. [PMID:17341554]"} {"concept_id": "C4476745", "aliases": [], "types": ["T033"], "canonical_name": "Diet-resistant subcutaneous adipose tissue", "definition": "Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. [PMID:22301856]"} {"concept_id": "C4476746", "aliases": [], "types": ["T033"], "canonical_name": "Diet-resistant subcutaneous adipose tissue below waist", "definition": "Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. []"} {"concept_id": "C4476747", "aliases": ["Pulmonary interstitiatial HRCT abnormality"], "types": ["T033"], "canonical_name": "Pulmonary interstitial high-resolution computed tomography abnormality", "definition": "High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. [PMID:23247773]"} {"concept_id": "C4476748", "aliases": [], "types": ["T033"], "canonical_name": "Reticular pattern on pulmonary HRCT", "definition": "On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. [PMID:23247773]"} {"concept_id": "C4476749", "aliases": ["Crazy paving pattern on pulmonary HRCT", "Crazy paving pattern"], "types": ["T033"], "definition": "The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia. [PMID:18195376, PMID:23247773]", "canonical_name": "Crazy-paving pattern"} {"concept_id": "C4476750", "aliases": [], "types": ["T033"], "canonical_name": "Nodular pattern on pulmonary HRCT", "definition": "A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. [PMID:23247773]"} {"concept_id": "C4476751", "aliases": [], "types": ["T033"], "canonical_name": "Reticulonodular pattern on pulmonary HRCT", "definition": "Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography. [PMID:23247773]"} {"concept_id": "C4476752", "aliases": [], "types": ["T033"], "canonical_name": "Cystic pattern on pulmonary HRCT", "definition": "On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. [PMID:23247773]"} {"concept_id": "C4476753", "aliases": [], "types": ["T033"], "canonical_name": "Combined cystic and ground-glass pattern on pulmonary HRCT", "definition": "Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, [PMID:23247773]"} {"concept_id": "C4476754", "aliases": ["Black lung pattern on pulmonary HRCT"], "types": ["T033"], "canonical_name": "Decreased attenuation pattern on pulmonary HRCT", "definition": "Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography. [PMID:23247773]"} {"concept_id": "C4476755", "aliases": [], "types": ["T033"], "canonical_name": "Mosaic attenuation pattern on pulmonary HRCT", "definition": "A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography. [PMID:23247773]"} {"concept_id": "C4476756", "aliases": [], "types": ["T033"], "canonical_name": "Nodular-perilymphatic pattern on pulmonary HRCT", "definition": "A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution. [PMID:23247773]"} {"concept_id": "C4476757", "aliases": [], "types": ["T033"], "canonical_name": "Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT", "definition": "A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree. [PMID:23247773]"} {"concept_id": "C4476758", "aliases": [], "types": ["T033"], "canonical_name": "Nodular-random pattern on pulmonary HRCT", "definition": "A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern. [PMID:23247773]"} {"concept_id": "C4476759", "aliases": [], "types": ["T033"], "canonical_name": "Stooped posture", "definition": "A habitual positioning of the body with the head and upper back bent forward. []"} {"concept_id": "C4476760", "aliases": ["Instability of ocular fixation"], "types": ["T033"], "canonical_name": "Visual fixation instability", "definition": "A deficit in the ability to fixate eye movements in order to stabilize images on the retina [PMID:28242738]"} {"concept_id": "C4476761", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal spleen morphology", "definition": "Any anomaly of the structure of the spleen. []"} {"concept_id": "C4476762", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal spleen physiology", "definition": "Any anomaly of the function of the spleen. []"} {"concept_id": "C4476763", "aliases": [], "types": ["T190"], "canonical_name": "Fossa navicularis urethral stricture", "definition": "A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis. [PMID:22022062]"} {"concept_id": "C4476764", "aliases": [], "types": ["T046"], "canonical_name": "Pendulous urethral stricture", "definition": "A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa. [PMID:22022062]"} {"concept_id": "C4476765", "aliases": [], "types": ["T046"], "canonical_name": "Bulbar urethral stricture", "definition": "A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis. []"} {"concept_id": "C4476766", "aliases": [], "types": ["T190"], "canonical_name": "Patulous urethra", "definition": "Urethra more open or expanded than normal. []"} {"concept_id": "C4476767", "aliases": ["Diffuse alveolar haemorrhage"], "types": ["T047"], "definition": "A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. [PMID:23678356]", "canonical_name": "Diffuse alveolar hemorrhage"} {"concept_id": "C4476768", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal larynx morphology", "definition": "Any anomaly of the structure of the larynx. []"} {"concept_id": "C4476769", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal larynx physiology", "definition": "Any anomaly of the function of the larynx. []"} {"concept_id": "C4476770", "aliases": ["Abnormality of the bronchi"], "types": ["T190"], "canonical_name": "Abnormal bronchus morphology", "definition": "Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. []"} {"concept_id": "C4476771", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal bronchus physiology", "definition": "Any anomaly of the function of the bronchi. []"} {"concept_id": "C4476772", "aliases": [], "types": ["T033"], "canonical_name": "Staccato cry", "definition": "A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations. []"} {"concept_id": "C4476773", "aliases": [], "types": ["T033"], "canonical_name": "Decreased lecithin cholesterol acyl transferase level", "definition": "Reduced level of the enzyme lecithin cholesterol acyl transferase. [PMID:25172171]"} {"concept_id": "C4476774", "aliases": ["Reduced CH50"], "types": ["T033"], "canonical_name": "Reduced hemolytic complement activity", "definition": "A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum. [PMID:20351687]"} {"concept_id": "C4476775", "aliases": ["Elevated serum deoxycorticosterone", "Elevated serum 21-hydroxyprogesterone"], "types": ["T033"], "canonical_name": "Elevated serum 11-deoxycortisol", "definition": "Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone. []"} {"concept_id": "C4476776", "aliases": [], "types": ["T033"], "canonical_name": "Macrocephalic sperm head", "definition": "Increased size of the head of sperm. [PMID:16500351]"} {"concept_id": "C4476777", "aliases": [], "types": ["T034"], "canonical_name": "Warm reactive autoantibody positivity", "definition": "Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C. [PMID:15491963]"} {"concept_id": "C4476778", "aliases": ["Calcification of the Achilles tendon"], "types": ["T190"], "canonical_name": "Achilles tendon calcification", "definition": "Ectopic deposition of calcium salts in the Achilles tendon. []"} {"concept_id": "C4476779", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal cardiac atrial physiology", "definition": "An abnormality of the function of the cardiac atria. []"} {"concept_id": "C4476780", "aliases": ["Decrease in amygdala volume"], "types": ["T190"], "canonical_name": "Reduced amygdala volume", "definition": "A decrease in the volume (size) of the amygdyla. []"} {"concept_id": "C4476781", "aliases": [], "types": ["T190"], "canonical_name": "Morphological abnormality of the papillary muscles", "definition": "Any structural anomaly of the papillary muscles of the left ventricle. [PMID:9034636]"} {"concept_id": "C4476782", "aliases": [], "types": ["T019"], "canonical_name": "Anomalous insertion of papillary muscle directly into anterior mitral leaflet", "definition": "A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet. [PMID:1884449]"} {"concept_id": "C4476783", "aliases": [], "types": ["T190"], "canonical_name": "Displacement of the papillary muscles", "definition": "Abnormal location of the insertion of a papillary muscle into the left ventricular wall. []"} {"concept_id": "C4476784", "aliases": ["Anteriorly displaced papillary muscles"], "types": ["T190"], "canonical_name": "Anterior displacement of the papillary muscles", "definition": "Abnormally anterior location of the papillary muscles of the left ventricle. [PMID:7850958]"} {"concept_id": "C4476785", "aliases": ["Apically displaced papillary muscles"], "types": ["T190"], "canonical_name": "Apically displaced anterolateral papillary muscle", "definition": "Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view, []"} {"concept_id": "C4476786", "aliases": ["Testicular adrenal rest tumour"], "types": ["T191"], "canonical_name": "Testicular adrenal rest tumor", "definition": "Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. [PMID:19956703]"} {"concept_id": "C4476787", "aliases": ["Abnormal cerebrospinal fluid metabolite concentration", "Abnormal CSF metabolite level"], "types": ["T033"], "canonical_name": "Abnormal CSF metabolite concentration", "definition": "Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid. []"} {"concept_id": "C4476788", "aliases": ["Low CSF 5-hydroxyindolacetic acid", "Low CSF 5-HIAA", "Decreased CSF 5-HIAA"], "types": ["T033"], "canonical_name": "Decreased CSF 5-hydroxyindolacetic acid", "definition": "CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal. [ORCID:0000-0003-0169-8159, PMID:27388694]"} {"concept_id": "C4476789", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal CSF protein level", "definition": "Any deviation from the normal range of a protein concentration in the cerebrospinal fluid. []"} {"concept_id": "C4476790", "aliases": ["Low CSF total protein", "Decreased cerebrospinal fluid total protein", "Hypoproteinorrhachia"], "types": ["T033"], "canonical_name": "Decreased CSF protein", "definition": "CSF total protein level is below the lower limit of normal. [ORCID:0000-0003-0169-8159, PMID:27388694]"} {"concept_id": "C4476791", "aliases": [], "types": ["T033"], "canonical_name": "Increased CSF/serum albumin ratio", "definition": "An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. []"} {"concept_id": "C4476792", "aliases": ["High myo-inositol in brain by MRS"], "types": ["T033"], "canonical_name": "High myoinositol in brain by MRS", "definition": "An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS). [ORCID:0000-0003-0169-8159, PMID:20951217]"} {"concept_id": "C4476793", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal cell morphology", "definition": "Any anomaly of cell structure. []"} {"concept_id": "C4476795", "aliases": [], "types": ["T049"], "canonical_name": "Abnormality of redox activity", "definition": "An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions. []"} {"concept_id": "C4476796", "aliases": ["Increased ROS production"], "types": ["T049"], "canonical_name": "Increased reactive oxygen species production", "definition": "An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage. [PMID:26950655]"} {"concept_id": "C4476797", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating beta globulin level", "definition": "A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood. []"} {"concept_id": "C4476798", "aliases": [], "types": ["T033"], "canonical_name": "Beta 2-microglobulinuria", "definition": "Increased level of beta 2-microglobulins in the urine. []"} {"concept_id": "C4476799", "aliases": [], "types": ["T019"], "definition": "A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation. [PMID:26822169]", "canonical_name": "Congenital panfollicular nevus"} {"concept_id": "C4476800", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent plantar mycosis", "definition": "A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching. []"} {"concept_id": "C4476801", "aliases": [], "types": ["T033"], "canonical_name": "Violaceous plaque"} {"concept_id": "C4476803", "aliases": [], "types": ["T033"], "canonical_name": "Positive perchlorate discharge test", "definition": "An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid. [PMID:25394566]"} {"concept_id": "C4476804", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating thyroglobulin level", "definition": "A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. []"} {"concept_id": "C4476805", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating thyroglobulin level", "definition": "An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. []"} {"concept_id": "C4476806", "aliases": [], "types": ["T190"], "canonical_name": "Fused labia majora", "definition": "The outer labia are sealed together. []"} {"concept_id": "C4476807", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of bladder morphology", "definition": "Any structural anomaly of the bladder. []"} {"concept_id": "C4476808", "aliases": [], "types": ["T190"], "canonical_name": "Microcoria", "definition": "A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. [PMID:25772937]"} {"concept_id": "C4476809", "aliases": [], "types": ["T033"], "canonical_name": "Palmoplantar erythema", "definition": "Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin. []"} {"concept_id": "C4476810", "aliases": [], "types": ["T047"], "canonical_name": "Coated aorta", "definition": "Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans [PMID:25017251]"} {"concept_id": "C4476811", "aliases": [], "types": ["T019"], "canonical_name": "Descending aorta hypoplasia", "definition": "Significant luminal narrowing of a long segment of the descending aorta. [PMID:12368748, PMID:24516866]"} {"concept_id": "C4476812", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal coronary artery physiology", "definition": "Any anomaly of the function of a coronary artery. []"} {"concept_id": "C4476813", "aliases": ["Obesity grade 1"], "types": ["T047"], "canonical_name": "Class I obesity", "definition": "Obesity with a body mass index of 30 to 34.9 kg per square meter. []"} {"concept_id": "C4476814", "aliases": [], "types": ["T190"], "canonical_name": "Anomalous coronary artery arising from the opposite sinus", "definition": "Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva. [PMID:27358682, PMID:28374180]"} {"concept_id": "C4476815", "aliases": [], "types": ["T190"], "canonical_name": "Anomalous origin of the circumflex artery from the right sinus of Valsalva", "definition": "The circumflex coronary artery originates from the right aortic sinus of Valsalva. [PMID:25104986]"} {"concept_id": "C4476816", "aliases": ["Anomalous coronary artery with aortic origin and course between the great arteries"], "types": ["T190"], "canonical_name": "Coronary artery sandwich anomaly", "definition": "Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels, [PMID:24424336]"} {"concept_id": "C4476817", "aliases": [], "types": ["T033"], "canonical_name": "Yellow-orange papule"} {"concept_id": "C4476818", "aliases": [], "types": ["T191"], "canonical_name": "Nevus sebaceus", "definition": "A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood. []"} {"concept_id": "C4476819", "aliases": ["Flesh-colored papule"], "types": ["T033"], "canonical_name": "Skin-colored papule", "definition": "A papule with the same color as the surrounding skin. [PMID:15686304]"} {"concept_id": "C4476820", "aliases": [], "types": ["T033"], "canonical_name": "Delayed thelarche", "definition": "Later than normal development of the breasts. []"} {"concept_id": "C4476821", "aliases": [], "types": ["T019"], "canonical_name": "Coronary-pulmonary artery fistula", "definition": "A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery. [PMID:24605242]"} {"concept_id": "C4476822", "aliases": ["Small hippocampus", "Underdeveloped hippocampus"], "types": ["T019"], "canonical_name": "Hypoplastic hippocampus", "definition": "Underdevelopment of the hippocampus. []"} {"concept_id": "C4476823", "aliases": [], "types": ["T033"], "canonical_name": "Visual gaze preference", "definition": "An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion. []"} {"concept_id": "C4476824", "aliases": [], "types": ["T033"], "canonical_name": "Increased body fat percentage", "definition": "The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males. []"} {"concept_id": "C4476825", "aliases": [], "types": ["T190"], "canonical_name": "Elongated chordae tendinae of the mitral valve", "definition": "Abnormal increased in length of the chordae tendinae of the mitral valve. []"} {"concept_id": "C4476826", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal morphology of the chordae tendinae of the mitral valve", "definition": "A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve. [PMID:23304176]"} {"concept_id": "C4476827", "aliases": [], "types": ["T033"], "canonical_name": "Palmoplantar scaling skin", "definition": "Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot. []"} {"concept_id": "C4476828", "aliases": [], "types": ["T047"], "canonical_name": "Palmoplantar psoriasis"} {"concept_id": "C4476829", "aliases": [], "types": ["T033"], "canonical_name": "Scaling skin on fingertip", "definition": "Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips. []"} {"concept_id": "C4476830", "aliases": ["Psoriatic-like lesion"], "types": ["T033"], "canonical_name": "Psoriasiform lesion", "definition": "A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus. []"} {"concept_id": "C4476831", "aliases": ["Erythematosquamous plaque"], "types": ["T033"], "canonical_name": "Erythemato-squamous plaque"} {"concept_id": "C4476832", "aliases": ["Serpiginous eruption"], "types": ["T033"], "canonical_name": "Serpiginous cutaneous lesion", "definition": "A skin lesion with a snake- or serpent-like distribution. []"} {"concept_id": "C4476833", "aliases": [], "types": ["T033"], "canonical_name": "Annular cutaneous lesion", "definition": "A lesion of the skin with a ring-like distribution. []"} {"concept_id": "C4476834", "aliases": ["Xanthoma palmare striatum", "Xanthoma striatum palmare"], "types": ["T033"], "canonical_name": "Xanthomas of the palmar creases", "definition": "The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. []"} {"concept_id": "C4476835", "aliases": [], "types": ["T047"], "canonical_name": "Harlequin phenomenon", "definition": "The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. [PMID:21575077]"} {"concept_id": "C4476836", "aliases": [], "types": ["T033"], "canonical_name": "Positive pathergy test", "definition": "With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result. []"} {"concept_id": "C4476837", "aliases": [], "types": ["T033"], "canonical_name": "Shawl sign", "definition": "Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back. [PMID:11730311]"} {"concept_id": "C4476838", "aliases": [], "types": ["T033"], "canonical_name": "V-sign", "definition": "Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest. [PMID:11730311]"} {"concept_id": "C4476839", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal B cell subset distribution"} {"concept_id": "C4476840", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal T cell subset distribution", "definition": "Any abnormality in the proportion T cells subsets relative to the total number of T cells. []"} {"concept_id": "C4476841", "aliases": [], "types": ["T048"], "canonical_name": "Trouble remembering words"} {"concept_id": "C4476842", "aliases": [], "types": ["T033"], "canonical_name": "Red-blue papule"} {"concept_id": "C4476843", "aliases": [], "types": ["T033"], "canonical_name": "Lipid accumulation in macula"} {"concept_id": "C4476845", "aliases": [], "types": ["T019"], "canonical_name": "Congenital ductus arteriosus aneurysm"} {"concept_id": "C4476846", "aliases": [], "types": ["T184"], "canonical_name": "Pain under knee cap"} {"concept_id": "C4476847", "aliases": [], "types": ["T019"], "canonical_name": "Short bowel"} {"concept_id": "C4476848", "aliases": ["Low one-minute APGAR score"], "types": ["T033"], "canonical_name": "Low 1-minute APGAR score"} {"concept_id": "C4476849", "aliases": ["Low five-minute APGAR score"], "types": ["T033"], "canonical_name": "Low 5-minute APGAR score"} {"concept_id": "C4476850", "aliases": [], "types": ["T033"], "canonical_name": "5-minute APGAR score of 0"} {"concept_id": "C4476851", "aliases": [], "types": ["T033"], "canonical_name": "5-minute APGAR score of 1"} {"concept_id": "C4476852", "aliases": [], "types": ["T033"], "canonical_name": "5-minute APGAR score of 2"} {"concept_id": "C4476853", "aliases": [], "types": ["T033"], "canonical_name": "5-minute APGAR score of 3"} {"concept_id": "C4476854", "aliases": [], "types": ["T033"], "canonical_name": "5-minute APGAR score of 4"} {"concept_id": "C4476855", "aliases": [], "types": ["T033"], "canonical_name": "5-minute APGAR score of 5"} {"concept_id": "C4476856", "aliases": [], "types": ["T033"], "canonical_name": "5-minute APGAR score of 6"} {"concept_id": "C4476857", "aliases": [], "types": ["T033"], "canonical_name": "1-minute APGAR score of 0"} {"concept_id": "C4476858", "aliases": [], "types": ["T033"], "canonical_name": "1-minute APGAR score of 1"} {"concept_id": "C4476859", "aliases": [], "types": ["T033"], "canonical_name": "1-minute APGAR score of 2"} {"concept_id": "C4476860", "aliases": [], "types": ["T033"], "canonical_name": "1-minute APGAR score of 3"} {"concept_id": "C4476861", "aliases": [], "types": ["T033"], "canonical_name": "1-minute APGAR score of 4"} {"concept_id": "C4476862", "aliases": [], "types": ["T033"], "canonical_name": "1-minute APGAR score of 5"} {"concept_id": "C4476863", "aliases": [], "types": ["T033"], "canonical_name": "1-minute APGAR score of 6"} {"concept_id": "C4476864", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of intestinal smooth muscle morphology", "definition": "A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine. []"} {"concept_id": "C4476865", "aliases": ["Muscularis propria malformation", "Segmental additional circular muscle coat"], "types": ["T190"], "canonical_name": "Abnormal layering of muscularis propria", "definition": "Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer. [PMID:18788889, PMID:26078585]"} {"concept_id": "C4476866", "aliases": [], "types": ["T190"], "canonical_name": "Fibrotic muscularis propria", "definition": "The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process. []"} {"concept_id": "C4476867", "aliases": [], "types": ["T190"], "canonical_name": "Enteric intraneuronal nuclear inclusion bodies", "definition": "Aggregates of stainable substances (proteins) in the nuclei of enteric neurons. []"} {"concept_id": "C4476868", "aliases": ["Thick eyelids", "Thickened but nonswollen eyelids", "Eyelid thickening", "Thickened eyelid"], "types": ["T033"], "canonical_name": "Palpebral thickening", "definition": "An increased thickness of the eyelid not related to acute inflammation. []"} {"concept_id": "C4476869", "aliases": ["Elevated serum GGT"], "types": ["T033"], "canonical_name": "Elevated gamma-glutamyltransferase level", "definition": "Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. [PMID:26543300]"} {"concept_id": "C4476870", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular deposits", "definition": "An abnormal accumulation of protein in the glomerulus. []"} {"concept_id": "C4476871", "aliases": [], "types": ["T190"], "canonical_name": "Birdshot choroidal lesions", "definition": "Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot. []"} {"concept_id": "C4476872", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of cardiovascular system electrophysiology", "definition": "An anomaly of the electrical conduction physiology of the heart. []"} {"concept_id": "C4476873", "aliases": [], "types": ["T033"], "canonical_name": "Ventricular septal dilatation"} {"concept_id": "C4476874", "aliases": ["Interventricular septum membranous part aneurysm"], "types": ["T047"], "canonical_name": "Membranous ventricular septal aneurysm", "definition": "Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). [PMID:5846101, PMID:6018320]"} {"concept_id": "C4476875", "aliases": [], "types": ["T047"], "canonical_name": "Aneurysm of the membranous ventricular septum"} {"concept_id": "C4476876", "aliases": ["Aneurysm of the muscular ventricular septum"], "types": ["T047"], "canonical_name": "Muscular ventricular septal aneurysm", "definition": "Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). [PMID:5846101]"} {"concept_id": "C4476878", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal morphology of the great vessels", "definition": "A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. []"} {"concept_id": "C4476880", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal aortic physiology"} {"concept_id": "C4476881", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal pulmonary artery morphology", "definition": "An abnormality of the structure of the pulmonary artery. []"} {"concept_id": "C4476882", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal pulmonary artery physiology", "definition": "An abnormality of the function of the pulmonary artery. []"} {"concept_id": "C4476883", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal pulmonary vein morphology", "definition": "An abnormality of the structure of the pulmonary veins. []"} {"concept_id": "C4476884", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal pulmonary vein physiology", "definition": "An abnormality of the function of the pulmonary veins. []"} {"concept_id": "C4476885", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal vena cava physiology", "definition": "An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. []"} {"concept_id": "C4476886", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal vena cava morphology", "definition": "An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. []"} {"concept_id": "C4476887", "aliases": ["Abnormal systemic BP"], "types": ["T033"], "canonical_name": "Abnormal systemic blood pressure", "definition": "A chronic deviation from normal pressure in the systemic arterial system. []"} {"concept_id": "C4476888", "aliases": ["Vaulted pontine tegmentum"], "types": ["T190"], "canonical_name": "Pontine tegmental cap", "definition": "An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle. [PMID:17690130, PMID:18842761, PMID:25691269]"} {"concept_id": "C4476889", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal factor VIII activity", "definition": "A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. []"} {"concept_id": "C4476890", "aliases": ["Elevated factor VIII level"], "types": ["T033"], "canonical_name": "Increased factor VIII activity", "definition": "Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. [ORCID:0000-0002-2826-3879]"} {"concept_id": "C4476891", "aliases": [], "types": ["T033"], "canonical_name": "Decreased CSF/serum albumin ratio", "definition": "A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. [ORCID:0000-0003-0169-8159, PMID:27388694]"} {"concept_id": "C4476892", "aliases": ["Dilated choroidal vessels"], "types": ["T033"], "canonical_name": "Dilatation of large choroidal vessels", "definition": "Enlargement of the large blood vessels in the choroid. [PMID:26026923]"} {"concept_id": "C4476893", "aliases": [], "types": ["T033"], "canonical_name": "Reduced brain glutamine level by MRS", "definition": "An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). [ORCID:0000-0003-0169-8159, PMID:24123328]"} {"concept_id": "C4476894", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal CSF/serum albumin ratio", "definition": "A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF. [PMID:27388694]"} {"concept_id": "C4476896", "aliases": [], "types": ["T019"], "canonical_name": "Biliary epithelial hyperplasia", "definition": "Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen. [PMID:21994886]"} {"concept_id": "C4476897", "aliases": [], "types": ["T047"], "canonical_name": "Granulomatous cholangitis", "definition": "Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts. [PMID:22333006]"} {"concept_id": "C4476898", "aliases": [], "types": ["T047"], "canonical_name": "Lymphoid cholangitis", "definition": "Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement. [PMID:21994886]"} {"concept_id": "C4476899", "aliases": [], "types": ["T047"], "canonical_name": "Pleomorphic cholangitis", "definition": "Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree. []"} {"concept_id": "C4476900", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal pancreatic duct morphology", "definition": "Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum. [PMID:24265565]"} {"concept_id": "C4476901", "aliases": ["Duplicated pancreatic duct"], "types": ["T019"], "canonical_name": "Duplication of pancreatic duct", "definition": "A congenital anomaly characterized by the presence of two separate pancreatic ducts. []"} {"concept_id": "C4476902", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal vestibular saccule morphology", "definition": "Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement). []"} {"concept_id": "C4476903", "aliases": [], "types": ["T047"], "canonical_name": "Vestibular saccular degeneration", "definition": "Deterioration or loss of the tissues of the saccule of the vestibule. []"} {"concept_id": "C4476904", "aliases": [], "types": ["T190"], "canonical_name": "Minifascicle formation", "definition": "A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle. []"} {"concept_id": "C4476905", "aliases": [], "types": ["T033"], "canonical_name": "Hemiareflexia", "definition": "Areflexia that is limited to one side of the body. [PMID:6722516]"} {"concept_id": "C4476906", "aliases": [], "types": ["T047"], "canonical_name": "Orofacial action-specific dystonia induced by speech"} {"concept_id": "C4476907", "aliases": [], "types": ["T047"], "canonical_name": "Jaw dystonia induced by speaking"} {"concept_id": "C4476908", "aliases": ["Hyperphalangy of third finger"], "types": ["T019"], "canonical_name": "Hyperphalangy of the 3rd finger", "definition": "An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint. [PMID:27738187, PMID:30728880]"} {"concept_id": "C4476909", "aliases": [], "types": ["T033"], "canonical_name": "Sudanophilic lesion"} {"concept_id": "C4476910", "aliases": ["TCFA"], "types": ["T020"], "canonical_name": "Thin-cap fibroatheroma", "definition": "Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis. [PMID:27500096]"} {"concept_id": "C4476911", "aliases": [], "types": ["T047"], "canonical_name": "Intrahepatic portal vein sclerosis", "definition": "Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices. [PMID:25796481]"} {"concept_id": "C4476913", "aliases": [], "types": ["T033"], "canonical_name": "Alternating radiolucent and radiodense metaphyseal lines", "definition": "Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra. [PMID:28384951]"} {"concept_id": "C4476914", "aliases": [], "types": ["T033"], "canonical_name": "Zebra stripe sign"} {"concept_id": "C4476915", "aliases": [], "types": ["T019"], "canonical_name": "Swiss cheese atrial septal defect", "definition": "Multiple defects in the atrial septum. [PMID:18559707]"} {"concept_id": "C4476916", "aliases": [], "types": ["T033"], "canonical_name": "Pyknotic bone marrow neutrophils", "definition": "Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments. []"} {"concept_id": "C4476917", "aliases": ["Increased plasma CEA"], "types": ["T033"], "canonical_name": "Elevated carcinoembryonic antigen level", "definition": "An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker. [PMID:11274010]"} {"concept_id": "C4476918", "aliases": ["Increased plasma CA125"], "types": ["T033"], "canonical_name": "Elevated carcinoma antigen 125 level", "definition": "An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer. [PMID:16343244]"} {"concept_id": "C4476919", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal retinol-binding protein level", "definition": "A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol. [PMID:14749226]"} {"concept_id": "C4476920", "aliases": [], "types": ["T033"], "canonical_name": "Decreased retinol-binding protein level", "definition": "A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity. [PMID:14749226]"} {"concept_id": "C4476921", "aliases": ["Renal acidification defect"], "types": ["T033"], "canonical_name": "Impaired urinary acidification", "definition": "The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. [PMID:6876936]"} {"concept_id": "C4476922", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal insulin like growth factor binding protein acid labile subunit level", "definition": "A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier. [PMID:20142246]"} {"concept_id": "C4476923", "aliases": ["Decreased plasma GH-binding protein"], "types": ["T033"], "canonical_name": "Reduced growth-hormone binding protein level", "definition": "A decreased blood concentration of growth hormone binding protein. []"} {"concept_id": "C4476924", "aliases": ["Reduced plasma INSL3 level"], "types": ["T033"], "canonical_name": "Reduced insulin-like factor 3 level", "definition": "Blood concentration of insulin-like factor 3 (ILF3) is below normal limits. [PMID:24640568]"} {"concept_id": "C4476925", "aliases": ["Spermatocytic arrest"], "types": ["T033"], "canonical_name": "Early spermatogenesis maturation arrest", "definition": "A type of maturation arrest in which only spermatogonia or spermatocytes are found. [PMID:21684558]"} {"concept_id": "C4476926", "aliases": ["Maturation arrest of spermatogenesis at spermatid stage"], "types": ["T033"], "canonical_name": "Late spermatogenesis maturation arrest", "definition": "A type of maturation arrest in which spermatids are detected without spermatozoa. [PMID:21684558]"} {"concept_id": "C4476927", "aliases": [], "types": ["T033"], "canonical_name": "Acral blistering", "definition": "Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet). []"} {"concept_id": "C4476928", "aliases": ["Agenesis of the soft palate"], "types": ["T019"], "canonical_name": "Absent soft palate", "definition": "A developmental defect characterized by lack of a soft palate. [PMID:11420024]"} {"concept_id": "C4476929", "aliases": [], "types": ["T033"], "canonical_name": "Light-chain paraproteinemia", "definition": "An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. []"} {"concept_id": "C4476930", "aliases": [], "types": ["T033"], "canonical_name": "Heavy-chain paraproteinemia", "definition": "An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. [PMID:12057070]"} {"concept_id": "C4476931", "aliases": [], "types": ["T033"], "canonical_name": "Whole-immunoglobulin paraproteinemia", "definition": "An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells. []"} {"concept_id": "C4476932", "aliases": [], "types": ["T047"], "canonical_name": "Tarsal sclerosis", "definition": "An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity. []"} {"concept_id": "C4476933", "aliases": [], "types": ["T033"], "canonical_name": "Elevated vascular endothelial growth factor level", "definition": "Increased blood concentration of vascular endothelial growth factor (VEGF). []"} {"concept_id": "C4476934", "aliases": [], "types": ["T019"], "canonical_name": "Coarctation in the transverse aortic arch", "definition": "Narrowing or constriction of the aorta localized to the region of the transverse aortic arch. []"} {"concept_id": "C4476935", "aliases": [], "types": ["T019"], "canonical_name": "Long segment coarctation of the aorta", "definition": "Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta. [PMID:23909637]"} {"concept_id": "C4476936", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal branching pattern of left aortic arch", "definition": "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch). []"} {"concept_id": "C4476937", "aliases": ["Intracranial fusiform aneurysm"], "types": ["T047"], "canonical_name": "Fusiform cerebral aneurysm", "definition": "A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery. []"} {"concept_id": "C4476938", "aliases": [], "types": ["T033"], "canonical_name": "Impairment of activities of daily living", "definition": "Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. []"} {"concept_id": "C4476939", "aliases": [], "types": ["T033"], "canonical_name": "Impaired ability to bathe oneself", "definition": "This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing. [PMID:10362969]"} {"concept_id": "C4476940", "aliases": [], "types": ["T033"], "canonical_name": "Impaired ability to dress oneself", "definition": "This applies to an individual who needs help with dressing or needs to be completely dressed. [PMID:10362969]"} {"concept_id": "C4476941", "aliases": [], "types": ["T033"], "canonical_name": "Impaired toileting ability", "definition": "This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode. []"} {"concept_id": "C4476942", "aliases": [], "types": ["T033"], "canonical_name": "Impaired feeding ability", "definition": "Applies to an individual who needs partial or total help with feeding or requires parenteral feeding. []"} {"concept_id": "C4476943", "aliases": [], "types": ["T033"], "canonical_name": "Impaired continence", "definition": "Partial or total incontinence of bowel or bladder. []"} {"concept_id": "C4476944", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ovarian morphology"} {"concept_id": "C4476945", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal ovarian physiology", "definition": "Any anomaly of ovarian function. []"} {"concept_id": "C4476946", "aliases": [], "types": ["T190"], "canonical_name": "Empty ovarian follicle", "definition": "A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization. [PMID:19562053]"} {"concept_id": "C4476947", "aliases": [], "types": ["T033"], "canonical_name": "Increased femoral torsion", "definition": "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range. []"} {"concept_id": "C4476948", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal femoral torsion", "definition": "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range. []"} {"concept_id": "C4476949", "aliases": [], "types": ["T033"], "canonical_name": "Decreased femoral torsion", "definition": "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range. []"} {"concept_id": "C4476950", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal endocrine morphology", "definition": "Any anomaly of the structure of an organ ofthe endocrine system. []"} {"concept_id": "C4476951", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal endocrine physiology", "definition": "Any anomaly of the function of the endocrine system. []"} {"concept_id": "C4476952", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal response to endocrine stimulation test", "definition": "An anomalous response to a test that is designed to probe the function of the endocrine system. []"} {"concept_id": "C4476953", "aliases": ["Abnormal response to corticotropin stimulation test", "Abnormal response to adrenocorticotropic-hormone stimulation test"], "types": ["T033"], "canonical_name": "Abnormal response to ACTH stimulation test", "definition": "An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline. []"} {"concept_id": "C4476954", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal response to insulin tolerance test", "definition": "An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level. []"} {"concept_id": "C4476955", "aliases": [], "types": ["T033"], "canonical_name": "Impaired cortisol response to insulin stimulation test", "definition": "Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT). []"} {"concept_id": "C4476956", "aliases": ["Abnormal response to CRH stimulation test"], "types": ["T033"], "canonical_name": "Abnormal response to corticotropin releasing hormone stimulation test", "definition": "An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals. []"} {"concept_id": "C4476957", "aliases": [], "types": ["T033"], "canonical_name": "Impaired cortisol response to corticotropin releasing hormone stimulation test", "definition": "Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test. []"} {"concept_id": "C4476958", "aliases": [], "types": ["T033"], "canonical_name": "Impaired growth-hormone response to insulin stimulation test", "definition": "Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT). []"} {"concept_id": "C4476959", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal response to glucagon stimulation test", "definition": "An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH). []"} {"concept_id": "C4476960", "aliases": [], "types": ["T033"], "canonical_name": "Impaired cortisol response to glucagon stimulation test", "definition": "Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test. []"} {"concept_id": "C4476961", "aliases": [], "types": ["T033"], "canonical_name": "Impaired growth-hormone response to glucagon stimulation test", "definition": "Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test. []"} {"concept_id": "C4476962", "aliases": ["Abnormal response to hCG stimulation test"], "types": ["T033"], "canonical_name": "Abnormal response to human chorionic gonadotrophin stimulation test", "definition": "An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors. []"} {"concept_id": "C4476963", "aliases": [], "types": ["T033"], "canonical_name": "Excessive insulin response to glucagon test", "definition": "An abnormally high increase in insulin levels following a glucagon stimulation test. [PMID:21791970]"} {"concept_id": "C4476964", "aliases": [], "types": ["T033"], "canonical_name": "Decreased prealbumin level", "definition": "A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status. [PMID:17138848]"} {"concept_id": "C4476965", "aliases": ["Absent adolescent growth spurt"], "types": ["T033"], "canonical_name": "Absent pubertal growth spurt", "definition": "The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur. []"} {"concept_id": "C4476966", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal humerus morphology", "definition": "Any anomaly of the structure of the humerus. []"} {"concept_id": "C4476967", "aliases": [], "types": ["T033"], "canonical_name": "Delayed vertebral ossification", "definition": "A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age. []"} {"concept_id": "C4476968", "aliases": ["Abnormal TSH level", "Abnormal circulating thyrotropin concentration", "Abnormal thyrotropin level"], "types": ["T033"], "canonical_name": "Abnormal thyroid-stimulating hormone level", "definition": "Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. []"} {"concept_id": "C4476969", "aliases": [], "types": ["T033"], "canonical_name": "Decreased inhibin B level", "definition": "A reduced concentration of inhibin B in the blood. [PMID:11720872]"} {"concept_id": "C4476970", "aliases": ["Abnormal antimullerian hormone level"], "types": ["T033"], "canonical_name": "Abnormal circulating antimullerian hormone concentration", "definition": "Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. [PMID:22693172]"} {"concept_id": "C4476971", "aliases": ["Increased plasma AMH"], "types": ["T033"], "canonical_name": "Increased antimullerian hormone level", "definition": "An elevation above the normal range of the antimullerian hormone in the circulation. []"} {"concept_id": "C4476972", "aliases": ["Decreased plasma AMH"], "types": ["T033"], "canonical_name": "Decreased antimullerian hormone level", "definition": "A reduction below the normal range of the antimullerian hormone in the circulation. []"} {"concept_id": "C4476973", "aliases": [], "types": ["T034"], "canonical_name": "Insulin receptor antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor. [PMID:3280181]"} {"concept_id": "C4476974", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal uterus morphology", "definition": "Any anomaly of the structure of the uterus []"} {"concept_id": "C4476975", "aliases": [], "types": ["T190"], "canonical_name": "T-shaped uterus", "definition": "An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging. [PMID:23771171]"} {"concept_id": "C4476976", "aliases": ["Thin fibula"], "types": ["T033"], "canonical_name": "Decreased fibular diameter", "definition": "Reduced width of the cross sectional diameter of the fibula. []"} {"concept_id": "C4476977", "aliases": [], "types": ["T019"], "definition": "A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis. [PMID:17467434]", "canonical_name": "Purely bicuspid aortic valve"} {"concept_id": "C4476978", "aliases": [], "types": ["T019"], "definition": "A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size. [PMID:17467434, PMID:24827036]", "canonical_name": "Single raphe bicuspid aortic valve"} {"concept_id": "C4476979", "aliases": [], "types": ["T019"], "canonical_name": "Bicuspid aortic valve with right-left cusp fusion", "definition": "A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure. [PMID:17467434, PMID:24827036]"} {"concept_id": "C4476980", "aliases": [], "types": ["T019"], "canonical_name": "Bicuspid aortic valve with right-noncoronary cusp fusion", "definition": "A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure. []"} {"concept_id": "C4476981", "aliases": [], "types": ["T019"], "canonical_name": "Bicuspid aortic valve with left-noncoronary cusp fusion", "definition": "A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure. []"} {"concept_id": "C4476982", "aliases": [], "types": ["T019"], "definition": "A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis. [PMID:17467434]", "canonical_name": "Two-raphe bicuspid aortic valve"} {"concept_id": "C4476983", "aliases": [], "types": ["T033"], "canonical_name": "Decreased platelet thromboxane A2 receptor", "definition": "Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2). []"} {"concept_id": "C4476984", "aliases": [], "types": ["T033"], "canonical_name": "Decreased platelet alpha-2A-adrenergic receptor", "definition": "Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine. []"} {"concept_id": "C4476985", "aliases": [], "types": ["T033"], "canonical_name": "Impaired clot retraction", "definition": "Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration. []"} {"concept_id": "C4476986", "aliases": [], "types": ["T049"], "canonical_name": "Impaired convulxin-induced platelet aggregation", "definition": "Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin. []"} {"concept_id": "C4476987", "aliases": [], "types": ["T049"], "canonical_name": "Impaired collagen-related peptide-induced platelet aggregation", "definition": "Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP. []"} {"concept_id": "C4476988", "aliases": [], "types": ["T049"], "canonical_name": "Impaired phorbol myristate acetate-induced platelet aggregation", "definition": "Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA. []"} {"concept_id": "C4476989", "aliases": ["Impaired Ca ionophore-induced platelet aggregation", "Impaired Ca2+ ionophore-induced platelet aggregation"], "types": ["T049"], "canonical_name": "Impaired calcium ionophore-induced platelet aggregation", "definition": "Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore. []"} {"concept_id": "C4476990", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal platelet phosphatidylserine exposure", "definition": "An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement. [PMID:12814644]"} {"concept_id": "C4476991", "aliases": [], "types": ["T049"], "canonical_name": "Impaired annexin V binding to platelet phosphatidylserine", "definition": "Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. []"} {"concept_id": "C4476992", "aliases": [], "types": ["T049"], "canonical_name": "Increased annexin V binding to platelet phosphatidylserine", "definition": "Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. []"} {"concept_id": "C4476993", "aliases": [], "types": ["T019"], "canonical_name": "Cor triatrium sinister", "definition": "A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum. [PMID:22379596]"} {"concept_id": "C4476994", "aliases": ["Physical trauma triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by physical trauma", "definition": "Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue). []"} {"concept_id": "C4476995", "aliases": [], "types": ["T033"], "canonical_name": "Decreased acrosin in sperm head", "definition": "A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process. []"} {"concept_id": "C4476996", "aliases": [], "types": ["T033"], "canonical_name": "Storage in hepatocytes", "definition": "Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. []"} {"concept_id": "C4476997", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal B-type natriuretic peptide level", "definition": "A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). [PMID:22145138]"} {"concept_id": "C4476998", "aliases": [], "types": ["T033"], "canonical_name": "Frog-leg posture", "definition": "A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. []"} {"concept_id": "C4476999", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal liver sonography", "definition": "An abnormal appearance of the liver or any of its components on sonography (ultrasound). []"} {"concept_id": "C4477000", "aliases": ["Hyperechogenic liver"], "types": ["T033"], "canonical_name": "Increased hepatic echogenicity", "definition": "Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device. [PMID:21472065]"} {"concept_id": "C4477001", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal hepatic echogenicity", "definition": "Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen). [PMID:21472065]"} {"concept_id": "C4477002", "aliases": ["Hypoechogenic liver"], "types": ["T033"], "canonical_name": "Decreased hepatic echogenicity", "definition": "Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device. [PMID:21472065]"} {"concept_id": "C4477003", "aliases": [], "types": ["T033"], "canonical_name": "Coarsened hepatic echotexture", "definition": "The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography. []"} {"concept_id": "C4477004", "aliases": [], "types": ["T033"], "canonical_name": "Starry sky appearance on hepatic sonography", "definition": "An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background). [PMID:26157918]"} {"concept_id": "C4477005", "aliases": [], "types": ["T033"], "canonical_name": "Impaired oral bolus formation", "definition": "An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed. [PMID:16776766]"} {"concept_id": "C4477006", "aliases": ["Membranous anomaly", "Membranous vitreous", "Membranous vitreous phenotype"], "types": ["T190"], "canonical_name": "Membranous vitreous appearance", "definition": "Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane. [PMID:20513134, PMID:21921955]"} {"concept_id": "C4477007", "aliases": [], "types": ["T190"], "canonical_name": "Beaded vitreous appearance", "definition": "Vitreous humor of the eye displaying beaded bundles of irregular diameters. [PMID:20513134, PMID:21921955]"} {"concept_id": "C4477008", "aliases": ["Increased Arden ratio of EOG"], "types": ["T033"], "canonical_name": "Increased Arden ratio of electrooculogram", "definition": "An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. []"} {"concept_id": "C4477009", "aliases": [], "types": ["T033"], "canonical_name": "Decreased platelet glycoprotein Ib", "definition": "Decreased platelet cell membrane concentration of glycoprotein Ib. [PMID:11157507]"} {"concept_id": "C4477010", "aliases": [], "types": ["T033"], "canonical_name": "Widened atrophic scar", "definition": "An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility. [PMID:22353005]"} {"concept_id": "C4477011", "aliases": [], "types": ["T033"], "canonical_name": "Thinning of Descemet membrane", "definition": "A reduction in the thickness of Descemet's membrane. []"} {"concept_id": "C4477012", "aliases": [], "types": ["T033"], "canonical_name": "Reduced brain glutamate level by MRS", "definition": "An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS). [PMID:24123328]"} {"concept_id": "C4477013", "aliases": [], "types": ["T033"], "canonical_name": "Impaired oropharyngeal swallow response", "definition": "Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. [PMID:27785002]"} {"concept_id": "C4477014", "aliases": ["Low femur bone density"], "types": ["T033"], "canonical_name": "Low femoral bone density", "definition": "Reduced bone mineral density of the femur. [PMID:19580459]"} {"concept_id": "C4477015", "aliases": ["Triggered by ingestion of K-rich food", "Potassium-rich food triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by ingestion of potassium-rich food", "definition": "Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium. [PMID:19472919]"} {"concept_id": "C4477016", "aliases": [], "types": ["T033"], "canonical_name": "Postterm pregnancy", "definition": "A pregnancy that extends to 42 weeks of gestation or beyond. [PMID:24753906]"} {"concept_id": "C4477017", "aliases": ["Spurring of femur"], "types": ["T190"], "canonical_name": "Femoral spur", "definition": "A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck. []"} {"concept_id": "C4477018", "aliases": [], "types": ["T047"], "canonical_name": "Sectoral retinitis pigmentosa", "definition": "A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration. []"} {"concept_id": "C4477019", "aliases": ["Spurring of tibiae"], "types": ["T190"], "canonical_name": "Tibial spur", "definition": "A bony projection (spur, osteophyte) originating from the tibia. []"} {"concept_id": "C4477020", "aliases": [], "types": ["T019"], "canonical_name": "Absent cervical vertebra", "definition": "A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine. []"} {"concept_id": "C4477021", "aliases": [], "types": ["T019"], "canonical_name": "Absent thoracic vertebra", "definition": "A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine. []"} {"concept_id": "C4477022", "aliases": [], "types": ["T033"], "canonical_name": "Finger flexor weakness", "definition": "Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. [PMID:15668452]"} {"concept_id": "C4477023", "aliases": [], "types": ["T190"], "canonical_name": "Fixed head retroflexion", "definition": "Head is bent in the posterior direction in a permanent fashion. [PMID:25288843]"} {"concept_id": "C4477024", "aliases": ["Increased NT-proBNP level"], "types": ["T033"], "canonical_name": "Increased circulating NT-proBNP concentration", "definition": "An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP). []"} {"concept_id": "C4477025", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating deoxycorticosterone level", "definition": "An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone. []"} {"concept_id": "C4477026", "aliases": ["Abnormality of circulating pregnenolone level"], "types": ["T033"], "canonical_name": "Abnormal circulating pregnenolone concentration", "definition": "An abnormality of the concentration of pregnenolone in the blood. [PMID:24849255]"} {"concept_id": "C4477027", "aliases": [], "types": ["T047"], "canonical_name": "Comedogenic acne"} {"concept_id": "C4477028", "aliases": ["Obligate (100%)"], "types": ["T080"], "canonical_name": "Obligate", "definition": "Always present, i.e. in 100% of the cases. []"} {"concept_id": "C4477029", "aliases": ["Very frequent (99-80%)"], "types": ["T080"], "canonical_name": "Very frequent", "definition": "Present in 80% to 99% of the cases. []"} {"concept_id": "C4477030", "aliases": ["Abnormality of axial muscles"], "types": ["T190"], "canonical_name": "Abnormal axial muscle morphology", "definition": "A structural anomaly of the muscles of the trunk and head. []"} {"concept_id": "C4477031", "aliases": [], "types": ["T033"], "canonical_name": "Axial muscle atrophy"} {"concept_id": "C4477033", "aliases": ["Steatosis of skeletal muscles", "Steatosis of skeletal muscle"], "types": ["T047"], "canonical_name": "Skeletal muscle steatosis"} {"concept_id": "C4477034", "aliases": ["Duplication of tongue", "Tongue duplication", "Tongue duplicated"], "types": ["T019"], "canonical_name": "Duplicated tongue"} {"concept_id": "C4477035", "aliases": ["Double upper lip"], "types": ["T019"], "canonical_name": "Duplication of the upper lip"} {"concept_id": "C4477036", "aliases": ["Abnormally placed eyebrows", "Abnormal location of eyebrows"], "types": ["T190"], "canonical_name": "Abnormal location of the eyebrow", "definition": "Anomalous anatomical placement of the eyebrow. []"} {"concept_id": "C4477037", "aliases": ["Low fatty acids level"], "types": ["T033"], "canonical_name": "Decreased circulating free fatty acid level"} {"concept_id": "C4477038", "aliases": ["Abnormal circulating free fatty acid level"], "types": ["T033"], "canonical_name": "Abnormal circulating free fatty acid concentration", "definition": "Any deviation from the normal concentration of a free fatty acid in the blood circulation. []"} {"concept_id": "C4477039", "aliases": [], "types": ["T033"], "canonical_name": "Pseudohypertriglyceridemia"} {"concept_id": "C4477040", "aliases": ["Duplicated sella turcica", "Duplicate sella turcica"], "types": ["T019"], "canonical_name": "Duplication of the sella turcica"} {"concept_id": "C4477041", "aliases": [], "types": ["T033"], "canonical_name": "Increased male libido", "definition": "Increased desire for sexual activity on the part of a male. []"} {"concept_id": "C4477042", "aliases": [], "types": ["T190"], "canonical_name": "Decreased male libido", "definition": "Reduced desire for sexual activity on the part of a male. []"} {"concept_id": "C4477043", "aliases": [], "types": ["T048"], "canonical_name": "Male anorgasmia", "definition": "Inability of a male to reach orgasm. []"} {"concept_id": "C4477044", "aliases": [], "types": ["T047"], "canonical_name": "Sterile arthritis", "definition": "An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures. []"} {"concept_id": "C4477046", "aliases": ["red brown urine"], "types": ["T033"], "canonical_name": "Red-brown urine", "definition": "An abnormal red-brown color of the urine. []"} {"concept_id": "C4477047", "aliases": [], "types": ["T033"], "canonical_name": "Purple urine", "definition": "An abnormal purple color of the urine. []"} {"concept_id": "C4477048", "aliases": ["Heliotrope erythema"], "types": ["T184"], "canonical_name": "Heliotrope rash", "definition": "In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower. []"} {"concept_id": "C4477049", "aliases": ["Hypoplastic olfactory bulb", "Hypoplasia of olfactory bulb"], "types": ["T019"], "canonical_name": "Hypoplasia of the olfactory bulb", "definition": "Underdevelopment of the olfactory bulb. [HPO:skoehler]"} {"concept_id": "C4477050", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal morphology of the olfactory bulb", "definition": "An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell. [HPO:skoehler]"} {"concept_id": "C4477051", "aliases": [], "types": ["T033"], "canonical_name": "Reduced lactate dehydrogenase B level", "definition": "A decreased or reduced level of the enzyme lactate dehydrogenase in serum. []"} {"concept_id": "C4477052", "aliases": ["Irregular distal femoral metaphyses"], "types": ["T190"], "canonical_name": "Distal femoral metaphyseal irregularity", "definition": "Irregularity of the normally smooth surface of the distal metaphysis of the femur. []"} {"concept_id": "C4477053", "aliases": ["Decreased proportion of CD3+ T cells"], "types": ["T033"], "canonical_name": "Decreased proportion of CD3-positive T cells", "definition": "Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells. []"} {"concept_id": "C4477055", "aliases": ["Myoclonus of limbs"], "types": ["T184"], "canonical_name": "Limb myoclonus"} {"concept_id": "C4477056", "aliases": [], "types": ["T033"], "canonical_name": "Constant urination"} {"concept_id": "C4477057", "aliases": [], "types": ["T116", "T129"], "canonical_name": "Cryoprecipitable immune complexes"} {"concept_id": "C4477058", "aliases": [], "types": ["T184"], "canonical_name": "Fragmented sleep"} {"concept_id": "C4477059", "aliases": ["Dilatation of coeliac artery"], "types": ["T190"], "canonical_name": "Dilatation of celiac artery", "definition": "Abnormal outpouching or sac-like dilatation in the wall of the celiac artery. [HPO:probinson]"} {"concept_id": "C4477060", "aliases": [], "types": ["T047"], "canonical_name": "Dilatation of superior mesenteric artery", "definition": "Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery . [HPO:probinson]"} {"concept_id": "C4477061", "aliases": [], "types": ["T190"], "canonical_name": "Dilatation of Inferior mesenteric artery", "definition": "Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery . [HPO:probinson]"} {"concept_id": "C4477062", "aliases": [], "types": ["T033"], "canonical_name": "Decreased 3-hydroxyacyl-CoA dehydrogenase level"} {"concept_id": "C4477063", "aliases": [], "types": ["T033"], "canonical_name": "Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency"} {"concept_id": "C4477064", "aliases": ["Fish odour", "Fishy odour", "Fishy odor", "Fishy body odour", "Fishy body odor"], "types": ["T184"], "canonical_name": "Fish odor", "definition": "Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals. [http://www.medicinenet.com/fish_odor_syndrome_trimethylaminuria/article.htm]"} {"concept_id": "C4477065", "aliases": ["Musty odor", "Musty odour"], "types": ["T033"], "canonical_name": "Musty odor", "definition": "Pungent body odor. []"} {"concept_id": "C4477066", "aliases": ["Vaginal fish odour", "Vaginal fish odor"], "types": ["T033"], "canonical_name": "Vaginal fish odor", "definition": "A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA). [PMID:16086821]"} {"concept_id": "C4477067", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal distribution of cell junction proteins in buccal mucosal cells", "definition": "An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43. [PMCID:PMC4785796]"} {"concept_id": "C4477068", "aliases": ["Abnormality of the periodontium"], "types": ["T190"], "canonical_name": "Abnormal periodontium morphology", "definition": "Any abnormality of the periodontium. []"} {"concept_id": "C4477069", "aliases": [], "types": ["T019"], "canonical_name": "Submucous cleft of soft and hard palate", "definition": "Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth. [http://www.cleftline.org/who-we-are/what-we-do/publications/submucous-clefts/]"} {"concept_id": "C4477070", "aliases": [], "types": ["T019"], "canonical_name": "Unilateral alveolar cleft of maxilla", "definition": "One sided alveolar cleft of the maxilla. []"} {"concept_id": "C4477071", "aliases": [], "types": ["T019"], "canonical_name": "Bilateral alveolar cleft of maxilla", "definition": "Nonmidline alveolar cleft of the maxilla. []"} {"concept_id": "C4477072", "aliases": [], "types": ["T190"], "definition": "Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. [PMID:27843899, PMID:7575269]", "canonical_name": "Iris flocculi"} {"concept_id": "C4477073", "aliases": ["Abnormality of GnRH level", "Abnormality of gonadotropin-releasing hormone level"], "types": ["T033"], "canonical_name": "Abnormal gonadotropin-releasing hormone concentration", "definition": "A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH). [HPO:probinson]"} {"concept_id": "C4477074", "aliases": ["Absence of GnRH pulsatility"], "types": ["T033"], "canonical_name": "Lack of gonadotropin-releasing hormone pulsatility", "definition": "Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion. [HPO:probinson]"} {"concept_id": "C4477075", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal cardiac test", "definition": "Abnormal test result of cardiovascular physiology. []"} {"concept_id": "C4477076", "aliases": ["Abnormal cardiac magnetic resonance imaging", "Abnormal heart MRI"], "types": ["T033"], "canonical_name": "Abnormal cardiac MRI", "definition": "Abnormal results of a MRI for the heart. []"} {"concept_id": "C4477077", "aliases": ["Abnormal cardiac exercise test", "Abnormal treadmill test"], "types": ["T033"], "canonical_name": "Abnormal cardiac exercise stress test", "definition": "Abnormal results of exercise on heart function. []"} {"concept_id": "C4477078", "aliases": ["Abnormal metabolic cart test"], "types": ["T033"], "canonical_name": "Abnormal resting energy expenditure from metabolic cart test", "definition": "Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2). [http://emedicine.medscape.com/article/2009552-overview]"} {"concept_id": "C4477079", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal cardiac biomarker test", "definition": "Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes. [https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=cardiac_biomarkers]"} {"concept_id": "C4477080", "aliases": [], "types": ["T033"], "canonical_name": "Reduced brain gamma-aminobutyric acid level by MRS", "definition": "An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS). [ORCID:0000-0003-0169-8159, PMID:27388694]"} {"concept_id": "C4477081", "aliases": ["Abnormal serum DHEA", "Abnormal serum dehydroepiandrosterone level", "Abnormal serum androstenolone level"], "types": ["T033"], "canonical_name": "Abnormal circulating dehydroepiandrosterone concentration", "definition": "A deviation from the normal concentration of dehydroepiandrosterone in the circulation. [PMID:27979632]"} {"concept_id": "C4477082", "aliases": ["Absent shoulder muscle"], "types": ["T019"], "canonical_name": "Shoulder muscle aplasia", "definition": "Absence of shoulder muscles. []"} {"concept_id": "C4477083", "aliases": [], "types": ["T019"], "canonical_name": "Aplasia of the musculature of the pelvis", "definition": "Absence of the musculature of the pelvis. []"} {"concept_id": "C4477084", "aliases": [], "types": ["T019"], "canonical_name": "Hypoplasia of the musculature of the pelvis", "definition": "Underdevelopment of the musculature of the pelvis. []"} {"concept_id": "C4477085", "aliases": ["Absence of the colon", "Aplasia of the colon"], "types": ["T019"], "canonical_name": "Aplastic colon", "definition": "Congenital absence of the colon []"} {"concept_id": "C4477086", "aliases": ["CWPs"], "types": ["T020"], "canonical_name": "Cotton wool plaques", "definition": "Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes. [PMID:20460383]"} {"concept_id": "C4477087", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal hepatic glycogen storage", "definition": "Change in normal glycogen storage content. [PMID:26835382]"} {"concept_id": "C4477088", "aliases": [], "types": ["T033"], "canonical_name": "Sclerosis of the carpal bones", "definition": "An elevation in bone density in one or more carpal bones of the hand. [PMID:21120491]"} {"concept_id": "C4477089", "aliases": ["Aberrant neuronal branching", "Abnormal neuronal branching"], "types": ["T190"], "canonical_name": "Abnormal neuron branching", "definition": "Abnormality of the structure and branching of the dendrites of a neuron. [PMID:20404840]"} {"concept_id": "C4477091", "aliases": [], "types": ["T191"], "canonical_name": "Monoclonal immunoglobulin M proteinemia", "definition": "Presence of a monoclonal immunoglobulin M protein in the serum. [HPO:probinson, PMID:25815903]"} {"concept_id": "C4477092", "aliases": [], "types": ["T033"], "canonical_name": "Elevated dermal desmosine content", "definition": "An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin. [PMID:2307214]"} {"concept_id": "C4477093", "aliases": [], "types": ["T019"], "canonical_name": "Angioma serpentinum", "definition": "Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis. [PMID:25864701]"} {"concept_id": "C4477094", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal visual fixation", "definition": "Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location. []"} {"concept_id": "C4477095", "aliases": ["Increased lactate dehydrogenase level"], "types": ["T033"], "canonical_name": "Increased circulating lactate dehydrogenase concentration", "definition": "An elevated level of the enzyme lactate dehydrogenase in the blood circulation. []"} {"concept_id": "C4477096", "aliases": [], "types": ["T190"], "canonical_name": "Testicular lipomatosis", "definition": "Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm. []"} {"concept_id": "C4477098", "aliases": [], "types": ["T046"], "canonical_name": "Pulmonary venous hypertension", "definition": "An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension. []"} {"concept_id": "C4477099", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal serum bile acid concentration", "definition": "A deviation from the normal concentration of serum bile acid concentration. []"} {"concept_id": "C4477100", "aliases": ["Meiotic maturation arrest of spermatogenesis"], "types": ["T033"], "canonical_name": "Spermatogenesis maturation arrest", "definition": "Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. [PMID:21684558]"} {"concept_id": "C4477101", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating inhibin level", "definition": "Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone. [PMID:12790766]"} {"concept_id": "C4477102", "aliases": ["Female foetal virilization"], "types": ["T033"], "canonical_name": "Female fetal virilization", "definition": "Fetal masculinization of female external genitalia. []"} {"concept_id": "C4477103", "aliases": [], "types": ["T033"], "canonical_name": "Blue urine", "definition": "An abnormal blue color of the urine. []"} {"concept_id": "C4477104", "aliases": [], "types": ["T033"], "canonical_name": "Spinal cord pathology"} {"concept_id": "C4478700", "aliases": [], "types": ["T047"], "definition": "A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins. [COST:neuromig, PMID:21219302]", "canonical_name": "Focal cortical dysplasia type IIa"} {"concept_id": "C4478701", "aliases": [], "types": ["T047"], "definition": "A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells. [COST:neuromig, PMID:21219302]", "canonical_name": "Focal cortical dysplasia type IIb"} {"concept_id": "C4479459", "aliases": [], "types": ["T049"], "canonical_name": "Oligoclonal T cell expansion", "definition": "The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones. []"} {"concept_id": "C4479643", "aliases": ["Agenesis of the hippocampal commissure"], "types": ["T033"], "canonical_name": "Absent hippocampal commissure", "definition": "Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum. [PMID:28250456]"} {"concept_id": "C4479645", "aliases": [], "types": ["T019"], "definition": "A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons. [PMID:19933510, PMID:32779696]", "canonical_name": "Midline brainstem cleft"} {"concept_id": "C4510560", "aliases": ["Allergy to venom"], "types": ["T046"], "definition": "Allergic reaction to venoms in insect bites and stings that is triggered by the immune system (i.e., HISTAMINE RELEASE).", "canonical_name": "Venom allergy"} {"concept_id": "C4518604", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal intestinal obstruction"} {"concept_id": "C4520679", "aliases": ["Abnormal macular morphology", "Macular abnormality", "Macula abnormality"], "types": ["T190"], "definition": "A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. [HPO:probinson, PMID:16255686]", "canonical_name": "Abnormality of the macula"} {"concept_id": "C4520843", "aliases": [], "types": ["T047"], "definition": "An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)", "canonical_name": "Surfer's eye"} {"concept_id": "C4520847", "aliases": ["Reduced IgG levels", "Decreased gamma-globin expression", "Decreased IgG level", "Decreased immunoglobulin G"], "types": ["T033"], "canonical_name": "IgG deficiency"} {"concept_id": "C4520976", "aliases": [], "types": ["T047"], "canonical_name": "Partial nodular transformation of liver"} {"concept_id": "C4520981", "aliases": ["Anomaly of the basal ganglia", "Abnormality of the basal ganglia"], "types": ["T190"], "definition": "Abnormality of the basal ganglia. [HPO:probinson]", "canonical_name": "Basal ganglia disease"} {"concept_id": "C4520983", "aliases": ["Biliary atresia, extrahepatic"], "types": ["T019"], "definition": "A congenital disorder characterized by blockage or absence of the extrahepatic bile ducts.", "canonical_name": "Extrahepatic biliary duct atresia"} {"concept_id": "C4521096", "aliases": ["High blood tryptophan concentration", "Hypertryptophanemia"], "types": ["T033"], "definition": "An increased amount of tryptophan in the blood. [https://orcid.org/0000-0001-7941-2961]", "canonical_name": "Increased tryptophan in blood"} {"concept_id": "C4521440", "aliases": [], "types": ["T190"], "definition": "An increase in the diameter of the ring (annulus) of the mitral valve. []", "canonical_name": "Dilatation of the mitral annulus"} {"concept_id": "C4522127", "aliases": ["Elevated serum copper", "Increased circulating copper concentration"], "types": ["T033"], "definition": "An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration. []", "canonical_name": "Hypercupremia"} {"concept_id": "C4523940", "aliases": ["Frothy urine"], "types": ["T033"], "canonical_name": "Foamy urine", "definition": "Urine has an increased amount of frothy fine bubbles. []"} {"concept_id": "C4527400", "aliases": [], "types": ["T033"], "canonical_name": "Solid pulmonary nodule", "definition": "A pulmonary nodule with well-defined margins and homogenous soft-tissue attenuation on CT scan examination."} {"concept_id": "C4527401", "aliases": [], "types": ["T033"], "definition": "A term that refers to a pure ground-glass pulmonary nodule or a part-solid pulmonary nodule on CT scan examination.", "canonical_name": "Subsolid pulmonary nodule"} {"concept_id": "C4527402", "aliases": [], "types": ["T033"], "definition": "A term that refers to a pulmonary nodule in which there are no completely obscured parenchymal areas by the ground-glass opacity on CT scan examination.", "canonical_name": "Pure ground-glass pulmonary nodule"} {"concept_id": "C4531012", "aliases": [], "types": ["T184"], "canonical_name": "Dull burning sensation with urination"} {"concept_id": "C4531013", "aliases": [], "types": ["T047"], "canonical_name": "Light induced retinopathy"} {"concept_id": "C4531014", "aliases": [], "types": ["T037"], "canonical_name": "Laser pointer-induced maculopathy"} {"concept_id": "C4531015", "aliases": [], "types": ["T033"], "canonical_name": "Impaired cellular adaptive immune response"} {"concept_id": "C4531016", "aliases": [], "types": ["T033"], "canonical_name": "Parathyroid issue"} {"concept_id": "C4531017", "aliases": [], "types": ["T033"], "canonical_name": "Missed heartbeat"} {"concept_id": "C4531018", "aliases": ["Lack of thymic shadow"], "types": ["T033"], "canonical_name": "Absent thymic shadow"} {"concept_id": "C4531019", "aliases": [], "types": ["T047"], "canonical_name": "Arterial disease of legs"} {"concept_id": "C4531020", "aliases": [], "types": ["T033"], "canonical_name": "Maternal health problem"} {"concept_id": "C4531021", "aliases": [], "types": ["T033"], "canonical_name": "Undergrowth"} {"concept_id": "C4531022", "aliases": [], "types": ["T033"], "canonical_name": "Breaking out"} {"concept_id": "C4531023", "aliases": [], "types": ["T033"], "canonical_name": "Brain and/or spinal cord issue"} {"concept_id": "C4531024", "aliases": [], "types": ["T033"], "canonical_name": "Subretinal deposits", "definition": "Deposits accumulating between the outer retina and the retinal pigment epithelium. []"} {"concept_id": "C4531025", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal MHC II surface expression", "definition": "A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. []"} {"concept_id": "C4531026", "aliases": ["Increased level of ribitol in serum"], "types": ["T033"], "canonical_name": "Elevated circulating ribitol concentration", "definition": "An increase above the normal concentration of ribitol in the blood. []"} {"concept_id": "C4531027", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal sex hormone-binding globulin level", "definition": "A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood. [PMID:26761949]"} {"concept_id": "C4531028", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal nasal mucus secretion", "definition": "Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose. []"} {"concept_id": "C4531029", "aliases": [], "types": ["T033"], "canonical_name": "Proximal scleroderma", "definition": "Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk. [PMID:3954464, RGD:gthayman]"} {"concept_id": "C4531030", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal neural tube morphology", "definition": "Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). [MP:0002151]"} {"concept_id": "C4531031", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal liver morphology", "definition": "Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. [MP:0000598]"} {"concept_id": "C4531032", "aliases": ["Abnormal T-cell activation", "Abnormal T-lymphocyte activation", "Abnormal T lymphocyte activation"], "types": ["T049"], "canonical_name": "Abnormal T cell activation", "definition": "Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. []"} {"concept_id": "C4531033", "aliases": [], "types": ["T190"], "canonical_name": "Thickened aortic valve cusp", "definition": "An abnormally increased thickness of a leaflet of the aortic valve. [Fyler:1486, PMID:9360334]"} {"concept_id": "C4531034", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal aortic valve cusp morphology", "definition": "Any structural anomaly of the aortic valve leaflets. [Fyler:1480]"} {"concept_id": "C4531035", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal pulmonary valve cusp morphology", "definition": "Any structural anomaly of the pulmonary valve leaflets. [Fyler:1652]"} {"concept_id": "C4531036", "aliases": [], "types": ["T190"], "canonical_name": "Abdominal situs ambiguus", "definition": "An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. [Fyler:3817]"} {"concept_id": "C4531037", "aliases": [], "types": ["T190"], "canonical_name": "Bronchial isomerism", "definition": "An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism). [PMID:21731561]"} {"concept_id": "C4531038", "aliases": [], "types": ["T019"], "canonical_name": "Balanced double aortic arch", "definition": "A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch. [PMID:22073330]"} {"concept_id": "C4531039", "aliases": [], "types": ["T190"], "canonical_name": "Coronary cameral fistula to right ventricle", "definition": "An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle. [MP:0011684]"} {"concept_id": "C4531040", "aliases": [], "types": ["T190"], "canonical_name": "Coronary cameral fistula", "definition": "An abnormal communication between coronary artery and a cardiac chamber. [PMID:26240737]"} {"concept_id": "C4531041", "aliases": [], "types": ["T033"], "canonical_name": "Reduced fibroblast CD16 level", "definition": "Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry. []"} {"concept_id": "C4531042", "aliases": [], "types": ["T033"], "canonical_name": "Reduced fibroblast CD59 level", "definition": "Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry. []"} {"concept_id": "C4531043", "aliases": [], "types": ["T033"], "canonical_name": "Reduced fibroblast CD55 level", "definition": "Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry. []"} {"concept_id": "C4531044", "aliases": [], "types": ["T033"], "canonical_name": "Reduced granulocyte CD16 level", "definition": "Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry. []"} {"concept_id": "C4531045", "aliases": [], "types": ["T033"], "canonical_name": "Reduced granulocyte CD59 level", "definition": "Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry. []"} {"concept_id": "C4531046", "aliases": [], "types": ["T033"], "canonical_name": "Reduced granulocyte CD55 level", "definition": "Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry. []"} {"concept_id": "C4531047", "aliases": [], "types": ["T033"], "canonical_name": "Reduced granulocyte surface marker level", "definition": "Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry. []"} {"concept_id": "C4531048", "aliases": [], "types": ["T033"], "canonical_name": "Reduced fibroblast surface marker level", "definition": "Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry. []"} {"concept_id": "C4531049", "aliases": [], "types": ["T033"], "canonical_name": "Reduced cell surface marker level", "definition": "Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry. []"} {"concept_id": "C4531050", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal flow cytometry test result", "definition": "Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules. []"} {"concept_id": "C4531051", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal QT interval", "definition": "Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). []"} {"concept_id": "C4531052", "aliases": [], "types": ["T033"], "canonical_name": "Abnormally low T cell receptor excision circle level", "definition": "Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-na\u00efve thymic emigrant T cells. [PMID:22001765]"} {"concept_id": "C4531053", "aliases": ["Elevated plasma palmitoleylcarnitine, C16:1", "Elevated plasma propionylcarnitine, C3:0", "Elevated circulating O-propionylcarnitine concentration", "Elevated propionylcarnitine level"], "types": ["T033"], "canonical_name": "Elevated circulating palmitoleylcarnitine concentration", "definition": "An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency. []"} {"concept_id": "C4531054", "aliases": ["Myelin-like whorls in vacuolated fibres"], "types": ["T190"], "canonical_name": "Myelin-like whorls in vacuolated fibers", "definition": "Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner. [PMID:18974994]"} {"concept_id": "C4531055", "aliases": [], "types": ["T190"], "canonical_name": "Linear C3 deposits along the epidermal basement membrane zone", "definition": "Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. [PMID:24160488]"} {"concept_id": "C4531056", "aliases": [], "types": ["T033"], "canonical_name": "Linear IgG deposits along the epidermal basement membrane zone", "definition": "Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. [PMID:24160488]"} {"concept_id": "C4531057", "aliases": [], "types": ["T190"], "canonical_name": "Linear IgA deposits along the epidermal basement membrane zone", "definition": "Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. [PMID:24160488]"} {"concept_id": "C4531058", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal dermoepidermal junction morphology", "definition": "Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments. [PMID:1097542]"} {"concept_id": "C4531059", "aliases": [], "types": ["T190"], "canonical_name": "Separate origin of the left anterior descending and left circumflex artery", "definition": "Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA). [PMID:27358682]"} {"concept_id": "C4531060", "aliases": [], "types": ["T033"], "canonical_name": "Increased theta frequency activity in EEG", "definition": "Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution. []"} {"concept_id": "C4531061", "aliases": [], "types": ["T190"], "canonical_name": "Passive dorsiflexion of the 5th finger more than 90 degrees", "definition": "An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal. [PMID:24358988]"} {"concept_id": "C4531062", "aliases": [], "types": ["T033"], "canonical_name": "Multifocal sub-RPE deposits", "definition": "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci. []"} {"concept_id": "C4531063", "aliases": [], "types": ["T033"], "canonical_name": "Focal sub-RPE deposits", "definition": "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus. []"} {"concept_id": "C4531064", "aliases": [], "types": ["T033"], "canonical_name": "Sub-RPE deposits", "definition": "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane. []"} {"concept_id": "C4531065", "aliases": [], "types": ["T033"], "canonical_name": "Multifocal subretinal deposits", "definition": "Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci. []"} {"concept_id": "C4531066", "aliases": [], "types": ["T033"], "canonical_name": "Focal subretinal deposits", "definition": "Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution. []"} {"concept_id": "C4531067", "aliases": ["Intraretinal fluid"], "types": ["T033"], "definition": "Edema/fluid accumulating within the retinal layers. []", "canonical_name": "Intra-retinal fluid"} {"concept_id": "C4531068", "aliases": [], "types": ["T190"], "canonical_name": "Cauliflower deformity of dermal collagen fibrils", "definition": "An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy. [PMID:3224502]"} {"concept_id": "C4531069", "aliases": [], "types": ["T033"], "canonical_name": "Absent posterior alpha rhythm", "definition": "Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above. [PMID:24574560]"} {"concept_id": "C4531070", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal meiosis", "definition": "Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells. []"} {"concept_id": "C4531071", "aliases": [], "types": ["T033"], "canonical_name": "Increased proportion of exhausted T cells", "definition": "An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells. [PMID:26544946]"} {"concept_id": "C4531072", "aliases": [], "types": ["T190"], "canonical_name": "Luse bodies", "definition": "Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands. []"} {"concept_id": "C4531073", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal cutaneous collagen fibril morphology"} {"concept_id": "C4531074", "aliases": [], "types": ["T190"], "canonical_name": "Diagonal earlobe crease", "definition": "Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees. [PMID:2713193]"} {"concept_id": "C4531075", "aliases": [], "types": ["T190"], "canonical_name": "Linear earlobe crease", "definition": "A transverse linear fissure (crease) in the lobule of the ear. []"} {"concept_id": "C4531076", "aliases": [], "types": ["T033"], "canonical_name": "Dry nipple", "definition": "Abnormally dry skin in the area of the nipple of the breast. []"} {"concept_id": "C4531077", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal thyroid hormone level", "definition": "Any deviation from the normal range of the hormones produced by the thyroid gland. [PMID:28932413]"} {"concept_id": "C4531078", "aliases": ["Decreased circulating thyroxine level", "Reduced T4 plasma level"], "types": ["T033"], "canonical_name": "Decreased circulating T4 level", "definition": "A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). []"} {"concept_id": "C4531079", "aliases": ["Increased circulating thyroxine level"], "types": ["T033"], "canonical_name": "Increased circulating T4 level", "definition": "An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). []"} {"concept_id": "C4531080", "aliases": ["Abnormal circulating thyroxine level"], "types": ["T033"], "canonical_name": "Abnormal circulating T4 level", "definition": "A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). []"} {"concept_id": "C4531081", "aliases": [], "types": ["T033"], "canonical_name": "Night gasping", "definition": "Waking up at night gasping for breath. []"} {"concept_id": "C4531082", "aliases": [], "types": ["T191"], "canonical_name": "Appendiceal mucinous neoplasm", "definition": "An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles. [PMID:23439060]"} {"concept_id": "C4531083", "aliases": [], "types": ["T191"], "canonical_name": "Mucinous gastric carcinoma", "definition": "A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor. [PMID:28501848]"} {"concept_id": "C4531084", "aliases": [], "types": ["T191"], "canonical_name": "Mucinous colorectal carcinoma", "definition": "A subtype of colorectal carcinoma with mucin lakes. []"} {"concept_id": "C4531085", "aliases": [], "types": ["T191"], "canonical_name": "Mucinous cystic neoplasm of the pancreas", "definition": "Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma. [NCIT:C41247, PMID:21128317]"} {"concept_id": "C4531086", "aliases": [], "types": ["T019"], "canonical_name": "Hemangioma of the lip", "definition": "A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia. [PMID:26618117]"} {"concept_id": "C4531087", "aliases": [], "types": ["T190"], "canonical_name": "Venous malformation of the lip", "definition": "A vascular malformation located in the lip that is related to abnormal vascular morphogenesis. [PMID:26618117]"} {"concept_id": "C4531088", "aliases": ["Atypical connection between arteries and veins"], "types": ["T190"], "canonical_name": "Arteriovenous malformation of the lip", "definition": "A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus. [PMID:26618117]"} {"concept_id": "C4531089", "aliases": [], "types": ["T190"], "canonical_name": "Capillary malformation of the lip", "definition": "A vascular malformation located in the lip that is characterized bynectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis. []"} {"concept_id": "C4531090", "aliases": [], "types": ["T190"], "canonical_name": "Vascular malformation of the lip", "definition": "An anomaly of blood vessels located in the lip. []"} {"concept_id": "C4531091", "aliases": [], "types": ["T047"], "canonical_name": "Cold-induced hemolysis", "definition": "A form of hemolytic anemia that can be triggered by cold temperatures. []"} {"concept_id": "C4531092", "aliases": [], "types": ["T033"], "canonical_name": "Reduced contraction of the left ventricular apex", "definition": "Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography. [PMID:8077532]"} {"concept_id": "C4531093", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal regional left ventricular contraction", "definition": "A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle. []"} {"concept_id": "C4531094", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal mitral valve physiology", "definition": "Any functional anomaly of the mitral valve. []"} {"concept_id": "C4531095", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal mitral valve leaflet morphology", "definition": "Any structural anomaly of the leaflets (also known as cusps) of the mitral valve. []"} {"concept_id": "C4531096", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal mitral valve annulus morphology", "definition": "Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. []"} {"concept_id": "C4531098", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal buccal mucosa cell morphology", "definition": "Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells). []"} {"concept_id": "C4531099", "aliases": [], "types": ["T048"], "canonical_name": "Separation insecurity", "definition": "Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy. [PMID:23902698]"} {"concept_id": "C4531100", "aliases": [], "types": ["T048"], "canonical_name": "Negative affectivity", "definition": "A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. [PMID:23902698]"} {"concept_id": "C4531101", "aliases": [], "types": ["T048"], "canonical_name": "Impairment in personality functioning", "definition": "A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. [PMID:23902698]"} {"concept_id": "C4531102", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal vasa vasorum morphology", "definition": "A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products. [PMID:26006236]"} {"concept_id": "C4531103", "aliases": [], "types": ["T190"], "canonical_name": "Musculotendinous retraction", "definition": "Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue. []"} {"concept_id": "C4531104", "aliases": [], "types": ["T033"], "canonical_name": "Pulmonary opacity", "definition": "Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality. [PMID:18195376]"} {"concept_id": "C4531105", "aliases": [], "types": ["T191"], "canonical_name": "Presacral ganglioneuroma", "definition": "A gangioleneuroma originating from sympathetic ganglion cells in the abdomen. []"} {"concept_id": "C4531106", "aliases": [], "types": ["T190"], "canonical_name": "Oral lichenoid lesion", "definition": "Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions. [PMID:22356325]"} {"concept_id": "C4531107", "aliases": [], "types": ["T190"], "canonical_name": "Lichenoid skin lesion", "definition": "Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques. [PMID:22356325]"} {"concept_id": "C4531108", "aliases": [], "types": ["T033"], "canonical_name": "Lower extremity subcutanous fat hypertrophy", "definition": "An abnormal increase in the amount of subcutaneous fat in the legs. [PMID:24788242]"} {"concept_id": "C4531109", "aliases": [], "types": ["T082"], "canonical_name": "Polycyclic", "definition": "A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge. []"} {"concept_id": "C4531110", "aliases": [], "types": ["T191"], "canonical_name": "Perineal hemangioma", "definition": "Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals. []"} {"concept_id": "C4531111", "aliases": [], "types": ["T190"], "canonical_name": "Herpetiform vesicles", "definition": "Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles. []"} {"concept_id": "C4531112", "aliases": [], "types": ["T190"], "canonical_name": "Penile freckling", "definition": "Multiple pigmented macules located on the skin of the penis. []"} {"concept_id": "C4531113", "aliases": [], "types": ["T190"], "canonical_name": "Oral mucosa nodule", "definition": "A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth. []"} {"concept_id": "C4531114", "aliases": [], "types": ["T190"], "canonical_name": "Dilatation of the tricuspid annulus", "definition": "An increase in the diameter of the ring (annulus) of the tricuspid valve. [PMID:3958362]"} {"concept_id": "C4531115", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal tricuspid valve leaflet morphology", "definition": "Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve. []"} {"concept_id": "C4531116", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal tricuspid chordae tendinae morphology", "definition": "Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve. []"} {"concept_id": "C4531117", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal tricuspid valve annulus morphology", "definition": "Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. []"} {"concept_id": "C4531119", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal angiostatin level", "definition": "A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels. [PMID:12855585, PMID:23555012]"} {"concept_id": "C4531120", "aliases": [], "types": ["T033"], "canonical_name": "Increased pitch variability of speech", "definition": "A speech pattern characterized by abnormally elevated variability of the pitch of the voice. []"} {"concept_id": "C4531121", "aliases": [], "types": ["T033"], "canonical_name": "Monotonic speech", "definition": "A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice. []"} {"concept_id": "C4531122", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal speech prosody", "definition": "An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm. []"} {"concept_id": "C4531123", "aliases": [], "types": ["T048"], "canonical_name": "Persistent repetition of actions", "definition": "Repeated and inappropriate mechanical repetition of actions. []"} {"concept_id": "C4531124", "aliases": [], "types": ["T048"], "canonical_name": "Persistent repetition of words", "definition": "Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others. []"} {"concept_id": "C4531125", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating osteocalcin level", "definition": "A reduced level of osteocalcin in the blood. [RGD:sjwang]"} {"concept_id": "C4531126", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating osteocalcin level", "definition": "An elevated level of osteocalcin in the blood. [RGD:sjwang]"} {"concept_id": "C4531127", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating osteocalcin level", "definition": "A deviation from the normal concentration of osteocalcin in the blood circulation. [PMID:23737779, PMID:25577163, RGD:sjwang]"} {"concept_id": "C4531128", "aliases": ["Decreased circulating beta-CTx level", "Decreased circulating beta-CrossLaps level"], "types": ["T033"], "canonical_name": "Decreased circulating beta-C-terminal telopeptide level", "definition": "A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. [RGD:sjwang]"} {"concept_id": "C4531129", "aliases": ["Increased circulating beta-CrossLaps level", "Increased circulating beta-CTx level"], "types": ["T033"], "canonical_name": "Increased circulating beta-C-terminal telopeptide level", "definition": "A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. [RGD:sjwang]"} {"concept_id": "C4531130", "aliases": ["Abnormal circulating beta-CTx level", "Abnormal circulating beta-CrossLaps level"], "types": ["T033"], "canonical_name": "Abnormal circulating beta-C-terminal telopeptide level", "definition": "A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover. [PMID:15309383, RGD:sjwang]"} {"concept_id": "C4531131", "aliases": [], "types": ["T033"], "canonical_name": "Small cerebellar cortex", "definition": "Reduced size of the cerebellar cortex. [RGD:gth]"} {"concept_id": "C4531132", "aliases": ["Abnormal morphology of the cerebellar cortex"], "types": ["T190"], "canonical_name": "Abnormal cerebellar cortex morphology", "definition": "Any structural anomaly of the cortex of the cerebellum. []"} {"concept_id": "C4531133", "aliases": [], "types": ["T190"], "canonical_name": "Small superior frontal cortex", "definition": "Reduced size of the superior frontal portion of the cerebral cortex. [RGD:gth]"} {"concept_id": "C4531134", "aliases": ["Small yellow foveal lesion with surrounding grey zone"], "types": ["T033"], "canonical_name": "Small yellow foveal lesion with surrounding gray zone", "definition": "A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity. [ORCiD:0000-0002-2244-7917, PMID:25323644, PMID:28611647]"} {"concept_id": "C4531135", "aliases": ["Reduced androgen-binding protein level"], "types": ["T033"], "canonical_name": "Reduced sex -hormone binding protein level", "definition": "A decreased concentration of sex-hormone binding protein in the circulation. [RGD:sjwang]"} {"concept_id": "C4531136", "aliases": ["High serum 1,25-dihydroxyvitamin D3", "High serum 1,25-dihydroxycholecalciferol", "Increased serum 1,25-dihydroxyvitamin D3", "Increased serum calcitriol"], "types": ["T033"], "canonical_name": "High serum calcitriol", "definition": "An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. [PMID:24246681, RGD:sjwang]"} {"concept_id": "C4531137", "aliases": ["High serum calcidiol", "High serum 25-hydroxycholecalciferol"], "types": ["T033"], "canonical_name": "High serum calcifediol", "definition": "An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3. [RGD:sjwang]"} {"concept_id": "C4531138", "aliases": [], "types": ["T190"], "canonical_name": "Short telomere length", "definition": "An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur. []"} {"concept_id": "C4531139", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal telomere morphology"} {"concept_id": "C4531140", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal chromosome morphology", "definition": "Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order. []"} {"concept_id": "C4531141", "aliases": ["Abnormal distribution of CD56 bright/dim NK cells"], "types": ["T033"], "canonical_name": "Abnormal distribution of CD56 bright/dim natural killer cells", "definition": "An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells. [PMID:19278419]"} {"concept_id": "C4531142", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal lymphocyte physiology", "definition": "Any anomaly of lymphocyte function. []"} {"concept_id": "C4531143", "aliases": [], "types": ["T033"], "canonical_name": "Increased proportion of CD25+ mast cells", "definition": "An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). [PMID:15371947, PMID:18684881, PMID:22222639]"} {"concept_id": "C4531144", "aliases": ["Impaired cytokine signalling", "Cytokine signalling defect", "Cytokine signaling defect"], "types": ["T033"], "canonical_name": "Impaired cytokine signaling", "definition": "A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. []"} {"concept_id": "C4531145", "aliases": ["Abnormal cytokine signalling"], "types": ["T049"], "canonical_name": "Abnormal cytokine signaling", "definition": "Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. []"} {"concept_id": "C4531146", "aliases": ["Impaired adaptive immune response"], "types": ["T049"], "canonical_name": "Impaired antigen-specific response", "definition": "An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). []"} {"concept_id": "C4531147", "aliases": ["Pathogen-specific CD8 cytoxicity defect"], "types": ["T033"], "canonical_name": "Impaired pathogen-specific CD8 cytoxicity", "definition": "Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors. [PMID:11911826]"} {"concept_id": "C4531148", "aliases": ["Impaired activated T cell proliferation", "Impaired Ag-specific T cell proliferation", "Antigen-specific T cell proliferation defect"], "types": ["T033"], "canonical_name": "Reduced antigen-specific T cell proliferation", "definition": "Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus. []"} {"concept_id": "C4531149", "aliases": [], "types": ["T033"], "canonical_name": "Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells", "definition": "An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. []"} {"concept_id": "C4531150", "aliases": ["Abnormal Double negative Treg distribution", "Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution", "Abnormal double-negative alpha-beta regulatory T cell distribution", "Abnormal DN Treg distribution"], "types": ["T033"], "canonical_name": "Abnormal proportion of double-negative alpha-beta regulatory T cell", "definition": "An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. [PMID:16285891, PMID:22294241]"} {"concept_id": "C4531151", "aliases": ["Increased proportion of naive thymus-derived, alpha-beta T cells", "Elevated proportion of naive T cells"], "types": ["T033"], "canonical_name": "Increased proportion of naive T cells", "definition": "An abnormally increased proportion of naive T cells relative to the total number of T cells. [PMID:12133935]"} {"concept_id": "C4531152", "aliases": ["Reduced proportion of naive T cells", "Decreased proportion of naive thymus-derived, alpha-beta T cells"], "types": ["T033"], "canonical_name": "Decreased proportion of naive T cells", "definition": "An abnormally decreased proportion of naive T cells relative to the total number of T cells. [HPO:probinson, PMID:12133935]"} {"concept_id": "C4531153", "aliases": ["Abnormal naive T cell proportion", "Abnormal proportion of naive thymus-derived, alpha-beta T cells"], "types": ["T033"], "canonical_name": "Abnormal proportion of naive T cells", "definition": "Any abnormality in the proportion of naive T cells relative to the total number of T cells. [PMID:12133935]"} {"concept_id": "C4531154", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal CD4:CD8 ratio", "definition": "Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes. [PMID:29095912]"} {"concept_id": "C4531155", "aliases": ["Abnormal proportion of CD8+ T cells", "Abnormal proportion of CD8-positive, alpha-beta T cells"], "types": ["T033"], "canonical_name": "Abnormal proportion of CD8-positive T cells", "definition": "Any abnormality in the proportion of CD8 T cells relative to the total number of T cells. []"} {"concept_id": "C4531156", "aliases": ["Abnormal proportion of CD4-positive, alpha-beta T cells", "Abnormal proportion of CD4+ T cells"], "types": ["T033"], "canonical_name": "Abnormal proportion of CD4-positive T cells", "definition": "Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells. []"} {"concept_id": "C4531157", "aliases": [], "types": ["T033"], "canonical_name": "Elevated MHC II surface expression", "definition": "An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface. []"} {"concept_id": "C4531158", "aliases": [], "types": ["T049"], "canonical_name": "Reduced MHC II surface expression", "definition": "A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. []"} {"concept_id": "C4531159", "aliases": [], "types": ["T033"], "canonical_name": "Megakaryocyte nucleus hyperlobulation", "definition": "The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus. [PMID:27107657]"} {"concept_id": "C4531160", "aliases": [], "types": ["T033"], "canonical_name": "Increased multinucleated megakaryocyte count", "definition": "The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow. [PMID:27107657]"} {"concept_id": "C4531161", "aliases": [], "types": ["T033"], "canonical_name": "Increased micromegakaryocyte count", "definition": "The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter. [PMID:27107657]"} {"concept_id": "C4531162", "aliases": [], "types": ["T033"], "canonical_name": "Megakaryocyte nucleus hypolobulation", "definition": "The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus. [PMID:27107657]"} {"concept_id": "C4531163", "aliases": [], "types": ["T033"], "canonical_name": "Reduced T cell CD40 expression", "definition": "A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes. []"} {"concept_id": "C4531164", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal lymphocyte surface marker expression", "definition": "Abnormal amount of a protein that is normally present on the cell surface of lymphocytes. []"} {"concept_id": "C4531165", "aliases": ["Defective lymphocyte proliferation to anti-CD3", "Defective proliferation of lymphocytes following anti-CD3 stimulation"], "types": ["T033"], "canonical_name": "Decreased lymphocyte proliferation in response to anti-CD3", "definition": "A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3. []"} {"concept_id": "C4531166", "aliases": ["Reduced lymphocyte proliferation to mitogen"], "types": ["T049"], "canonical_name": "Decreased lymphocyte proliferation in response to mitogen", "definition": "A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA). []"} {"concept_id": "C4531167", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal B cell proliferation", "definition": "Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population. []"} {"concept_id": "C4531168", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal T cell proliferation", "definition": "Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population. []"} {"concept_id": "C4531169", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal lymphocyte proliferation", "definition": "Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population. []"} {"concept_id": "C4531170", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal cell proliferation", "definition": "Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population. []"} {"concept_id": "C4531171", "aliases": ["Tongue stiffness"], "types": ["T190"], "canonical_name": "Stiff tongue", "definition": "Increased rigidity and reduced mobility of the tongue. []"} {"concept_id": "C4531172", "aliases": [], "types": ["T184"], "canonical_name": "Cold paresis", "definition": "Increased muscle weakness upon exposure to cold temperatures. [PMID:20803025]"} {"concept_id": "C4531173", "aliases": ["Flat purpura"], "types": ["T190"], "canonical_name": "Macular purpura", "definition": "Purpura that is flat (non-palpable, not raised). []"} {"concept_id": "C4531174", "aliases": [], "types": ["T045"], "canonical_name": "Sex-limited autosomal recessive inheritance", "definition": "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes in a sex-specific manner (i.e. only in males or only in females). []"} {"concept_id": "C4531175", "aliases": [], "types": ["T033"], "canonical_name": "Cutaneous sclerotic plaque", "definition": "A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening). []"} {"concept_id": "C4531176", "aliases": ["Waking up several times during the night"], "types": ["T184"], "canonical_name": "Maintenance insomnia", "definition": "Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep. []"} {"concept_id": "C4531178", "aliases": ["Calcified amorphous tumour of the heart"], "types": ["T191"], "canonical_name": "Calcified amorphous tumor of the heart", "definition": "A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue. [PMID:24932362]"} {"concept_id": "C4531179", "aliases": [], "types": ["T019"], "definition": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus. []", "canonical_name": "Uterine arteriovenous malformation"} {"concept_id": "C4531180", "aliases": [], "types": ["T190"], "canonical_name": "Rectal arteriovenous malformation", "definition": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum. []"} {"concept_id": "C4531181", "aliases": [], "types": ["T019"], "canonical_name": "Pelvic arteriovenous malformation", "definition": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis. [PMID:11292918]"} {"concept_id": "C4531182", "aliases": [], "types": ["T190"], "canonical_name": "Jejunal arteriovenous malformation", "definition": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum. []"} {"concept_id": "C4531183", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal lysosomal morphology", "definition": "A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids. []"} {"concept_id": "C4531184", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal cadiomyocyte dystrophin staining", "definition": "Anomalous staining of dystrophin in cardiomyocytes. [PMID:23330010]"} {"concept_id": "C4531185", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal cardiomyocyte plakoglobin staining", "definition": "Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes. [PMID:25196244]"} {"concept_id": "C4531186", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal cardiomyocyte connexin43 staining", "definition": "Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases. [PMID:20167932]"} {"concept_id": "C4531187", "aliases": [], "types": ["T190"], "canonical_name": "Intranuclear cardiomyocyte mitochondria", "definition": "Abnormal localization of mitochondria within the nuclei of cardiomyocytes. [PMID:22948484]"} {"concept_id": "C4531188", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal cardiomyocyte mitochondrial morphology", "definition": "An anomaly of the structure of mitochondria within cardiomyocytes. []"} {"concept_id": "C4531189", "aliases": [], "types": ["T033"], "canonical_name": "Cardiomyocyte inclusion bodies", "definition": "Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes. []"} {"concept_id": "C4531190", "aliases": ["Myocardial sarcomere disarray"], "types": ["T190"], "canonical_name": "Myocardial sarcomeric disarray", "definition": "A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes. [PMID:22311886, PMID:7788887]"} {"concept_id": "C4531191", "aliases": [], "types": ["T033"], "canonical_name": "Cardiomyocyte degeneration", "definition": "Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris. []"} {"concept_id": "C4531192", "aliases": ["Abnormal cardiac muscle cell morphology"], "types": ["T190"], "canonical_name": "Abnormal cardiomyocyte morphology", "definition": "Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue. []"} {"concept_id": "C4531193", "aliases": [], "types": ["T033"], "canonical_name": "Perivascular myocardial immune cell infiltration", "definition": "An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels. []"} {"concept_id": "C4531194", "aliases": [], "types": ["T033"], "canonical_name": "Interstitial cardiac fibrosis", "definition": "A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. [PMID:10435025]"} {"concept_id": "C4531195", "aliases": [], "types": ["T033"], "canonical_name": "Perivascular cardiac fibrosis", "definition": "A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces. [PMID:10435025]"} {"concept_id": "C4531196", "aliases": ["TTR cardiac amyloidosis"], "types": ["T047"], "canonical_name": "Transthyretin cardiac amyloidosis", "definition": "A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining. [PMID:22949539]"} {"concept_id": "C4531197", "aliases": [], "types": ["T047"], "canonical_name": "Monoclonal light chain cardiac amyloidosis", "definition": "A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry. [PMID:28456755]"} {"concept_id": "C4531198", "aliases": [], "types": ["T033"], "canonical_name": "Myocardial granulomatous infiltrates", "definition": "The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium. []"} {"concept_id": "C4531199", "aliases": [], "types": ["T033"], "canonical_name": "Myocardial multinucleated giant cells", "definition": "The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin. [PMID:26140040]"} {"concept_id": "C4531200", "aliases": [], "types": ["T033"], "canonical_name": "Myocardial eosinophilic infiltration", "definition": "An increase in the number of eosinophils in myocardial tissue. []"} {"concept_id": "C4531201", "aliases": [], "types": ["T033"], "canonical_name": "Myocardial lymphocytic infiltration", "definition": "An increase in the number of lymphocytes in myocardial tissue. []"} {"concept_id": "C4531202", "aliases": [], "types": ["T033"], "canonical_name": "Myocardial immune cell infiltration", "definition": "An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium). []"} {"concept_id": "C4531203", "aliases": [], "types": ["T033"], "canonical_name": "Cardiomyocyte mitochondrial proliferation", "definition": "An abnormal increase in the number of mitochondria per cardiac myocyte. []"} {"concept_id": "C4531204", "aliases": ["Intramyocardial fat infiltration", "Fatty infiltration of cardiac ventricle"], "types": ["T046"], "canonical_name": "Fatty replacement of ventricular myocardial tissue", "definition": "Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue. []"} {"concept_id": "C4531205", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ventricular myocardium morphology", "definition": "A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle. []"} {"concept_id": "C4531206", "aliases": [], "types": ["T047"], "canonical_name": "External carotid artery calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery. []"} {"concept_id": "C4531207", "aliases": [], "types": ["T033"], "canonical_name": "Abdominal aortic calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta. []"} {"concept_id": "C4531208", "aliases": [], "types": ["T047"], "canonical_name": "Middle cerebral artery calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery. []"} {"concept_id": "C4531209", "aliases": [], "types": ["T033"], "canonical_name": "Basilar artery calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery. []"} {"concept_id": "C4531210", "aliases": [], "types": ["T033"], "canonical_name": "Vertebral artery calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery. []"} {"concept_id": "C4531211", "aliases": [], "types": ["T047"], "canonical_name": "Internal carotid artery calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery. []"} {"concept_id": "C4531212", "aliases": [], "types": ["T047"], "canonical_name": "Intracranial arterial calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial). []"} {"concept_id": "C4531213", "aliases": [], "types": ["T047"], "canonical_name": "Tibial arterial calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery. []"} {"concept_id": "C4531214", "aliases": [], "types": ["T033"], "canonical_name": "Iliac arterial calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery. []"} {"concept_id": "C4531215", "aliases": [], "types": ["T047"], "canonical_name": "Femoral arterial calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery. []"} {"concept_id": "C4531216", "aliases": ["Lower extremity peripheral artery calcification"], "types": ["T033"], "canonical_name": "Lower extremity peripheral arterial calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg. []"} {"concept_id": "C4531217", "aliases": ["Peripheral artery calcification"], "types": ["T047"], "canonical_name": "Peripheral arterial calcification", "definition": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall. [PMID:24402839, PMID:26811161]"} {"concept_id": "C4531218", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating properdin level", "definition": "A deviation from the normal concentration of properdin in the blood. [PMID:16301317]"} {"concept_id": "C4531219", "aliases": [], "types": ["T033"], "canonical_name": "Elevated left atrial pressure", "definition": "An abnormal increase in magnitude of the pressure in the left atrium. []"} {"concept_id": "C4531220", "aliases": ["Enlarged coronary sinus", "Coronary sinus dilatation"], "types": ["T190"], "canonical_name": "Coronary sinus enlargement", "definition": "Abnormal increase in size of the coronary sinus. []"} {"concept_id": "C4531221", "aliases": [], "types": ["T190"], "canonical_name": "Atrial septal hypertrophy", "definition": "An abnormal increase in the thickness of the atrial septum. [PMID:12664819]"} {"concept_id": "C4531222", "aliases": [], "types": ["T019"], "canonical_name": "Hypoplastic right atrium", "definition": "Underdeveloped, small right heart atrium. []"} {"concept_id": "C4531223", "aliases": [], "types": ["T047"], "canonical_name": "Ichthyosis follicularis", "definition": "Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed. [PMID:14708109, PMID:21600032]"} {"concept_id": "C4531224", "aliases": [], "types": ["T047"], "canonical_name": "Cobblestone-like hyperkeratosis", "definition": "The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones. [PMID:18809899]"} {"concept_id": "C4531225", "aliases": [], "types": ["T033"], "canonical_name": "Perifollicular erythema", "definition": "Redness surrounding the hair follicles. [PMID:24574696]"} {"concept_id": "C4531226", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal perifollicular morphology", "definition": "Any structural anomaly in the areas surrounding the hair follicles. []"} {"concept_id": "C4531227", "aliases": [], "types": ["T190"], "canonical_name": "Tufted hairs", "definition": "The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice. []"} {"concept_id": "C4531228", "aliases": [], "types": ["T190"], "canonical_name": "Malalignment of the great toenail", "definition": "A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges. [PMID:27171597]"} {"concept_id": "C4531229", "aliases": [], "types": ["T033"], "canonical_name": "Increased LH response to gonadotropin-releasing hormone stimulation test", "definition": "An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test. [PMID:22016677]"} {"concept_id": "C4531230", "aliases": ["Abnormal response to GnRH stimulation test"], "types": ["T033"], "canonical_name": "Abnormal response to gonadotropin-releasing hormone stimulation test", "definition": "An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH). [PMID:22016677]"} {"concept_id": "C4531231", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal thoracic duct morphology", "definition": "Any structural anomaly of the thoracic duct. []"} {"concept_id": "C4531232", "aliases": [], "types": ["T047"], "canonical_name": "Pulmonary arterial atherosclerosis", "definition": "Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery. []"} {"concept_id": "C4531233", "aliases": [], "types": ["T033"], "canonical_name": "Absent ankle pulse", "definition": "The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination. []"} {"concept_id": "C4531234", "aliases": ["Reduced IL2RA upregulation upon TCR activation", "Poor CD25 upregulation upon TCR activation"], "types": ["T049"], "canonical_name": "Decreased CD25 upregulation upon TCR activation", "definition": "Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR). [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4531235", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal CD25 upregulation upon TCR activation", "definition": "Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression. [ORCID:0000-0001-5208-3432, PMID:12121224]"} {"concept_id": "C4531236", "aliases": [], "types": ["T049"], "canonical_name": "Decreased CD69 upregulation upon TCR activation", "definition": "Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR). [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4531237", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal CD69 upregulation upon TCR activation", "definition": "Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus. [ORCID:0000-0001-5208-3432]"} {"concept_id": "C4531238", "aliases": ["Abnormal podocyte morphology", "Abnormal visceral epithelial cell morphology"], "types": ["T033"], "canonical_name": "Abnormal glomerular visceral epithelial cell morphology", "definition": "Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary. [PMID:10662721, PMID:26918173]"} {"concept_id": "C4531239", "aliases": ["Abnormal morphology of Bowman's capsule", "Abnormal renal glomerular capsule morphology", "Abnormal morphology of Bowman capsule"], "types": ["T190"], "canonical_name": "Abnormal Bowman capsule morphology", "definition": "A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. []"} {"concept_id": "C4531240", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal renal corpuscle morphology", "definition": "Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. []"} {"concept_id": "C4531241", "aliases": [], "types": ["T190"], "canonical_name": "Triangular tibia", "definition": "A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally. [PMID:18616733]"} {"concept_id": "C4531242", "aliases": [], "types": ["T190"], "canonical_name": "Arteriovenous malformation of the maxilla", "definition": "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla. [PMID:17082338, PMID:23125071]"} {"concept_id": "C4531243", "aliases": [], "types": ["T190"], "canonical_name": "Optic nerve arteriovenous malformation", "definition": "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve. [PMID:23125071]"} {"concept_id": "C4531244", "aliases": [], "types": ["T190"], "canonical_name": "Hypothalamic arteriovenous malformation", "definition": "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus. [PMID:23125071]"} {"concept_id": "C4531245", "aliases": [], "types": ["T190"], "canonical_name": "Thalamic arteriovenous malformation", "definition": "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus. [PMID:23125071]"} {"concept_id": "C4531246", "aliases": [], "types": ["T019"], "canonical_name": "Anomalous origin of left subclavian artery", "definition": "Origin of the left subclavian artery from an anomalous anatomical location. []"} {"concept_id": "C4531247", "aliases": [], "types": ["T190"], "canonical_name": "Dilated left subclavian artery", "definition": "Abnormally increased caliber of the left subclavian artery. []"} {"concept_id": "C4531248", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal subclavian artery morphology", "definition": "Any anomaly of a subclavian artery. []"} {"concept_id": "C4531249", "aliases": ["Decreased circulating very-low-density lipoprotein levels"], "types": ["T033"], "canonical_name": "Decreased VLDL cholesterol concentration", "definition": "A reduction in the amount of very-low-density lipoprotein cholesterol in the blood. []"} {"concept_id": "C4531250", "aliases": ["Hypochylomicronemia", "Decreased circulating chylomicron levels"], "types": ["T033"], "canonical_name": "Decreased circulating chylomicron concentration", "definition": "Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. []"} {"concept_id": "C4531251", "aliases": [], "types": ["T033"], "canonical_name": "Subfoveal choroidal neovascularization", "definition": "A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea. []"} {"concept_id": "C4531252", "aliases": [], "types": ["T046"], "definition": "A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea. []", "canonical_name": "Juxtafoveal choroidal neovascularization"} {"concept_id": "C4531253", "aliases": [], "types": ["T046"], "definition": "A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea. []", "canonical_name": "Extrafoveal choroidal neovascularization"} {"concept_id": "C4531254", "aliases": ["Necklace skeletal muscle fibres"], "types": ["T033"], "canonical_name": "Necklace skeletal muscle fibers", "definition": "A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules. [PMID:19084976]"} {"concept_id": "C4531255", "aliases": ["Internally nucleated skeletal muscle fibres"], "types": ["T190"], "canonical_name": "Internally nucleated skeletal muscle fibers", "definition": "An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. [PMID:22938878]"} {"concept_id": "C4531256", "aliases": [], "types": ["T047"], "canonical_name": "Predominantly dermal neutrophilic infiltrate", "definition": "Collection of neutrophils in the dermis. [PMID:17675728]"} {"concept_id": "C4531257", "aliases": [], "types": ["T033"], "canonical_name": "Predominantly epidermal neutrophilic infiltrate", "definition": "Collection of neutrophils in the epidermis. [PMID:17675728]"} {"concept_id": "C4531258", "aliases": [], "types": ["T190"], "canonical_name": "Neutrophilic infiltration of the skin", "definition": "A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin). []"} {"concept_id": "C4531259", "aliases": [], "types": ["T033"], "canonical_name": "Increased incisura width", "definition": "Breadth of the incisura from the anterior to posterior border greater than that observed in the average population. [PMID:20082456]"} {"concept_id": "C4531260", "aliases": [], "types": ["T190"], "canonical_name": "Narrow incisura width", "definition": "Width of the incisura from the anterior to posterior border less than that observed in the average population. [PMID:20082456]"} {"concept_id": "C4531261", "aliases": [], "types": ["T033"], "canonical_name": "Decreased incisura length", "definition": "The length of the incisura from the upper to lower border is less than that observed in the average population. [PMID:20082456]"} {"concept_id": "C4531262", "aliases": [], "types": ["T033"], "canonical_name": "Increased incisura length", "definition": "The length of the incisura from the upper to lower border is greater than that observed in the average population. [PMID:20082456]"} {"concept_id": "C4531263", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal incisura morphology", "definition": "An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus. [PMID:20082456]"} {"concept_id": "C4531264", "aliases": [], "types": ["T191"], "canonical_name": "Nasopharyngeal teratoma", "definition": "A teratoma arising in the nasopharyngeal region. [PMID:23056797]"} {"concept_id": "C4531265", "aliases": [], "types": ["T019"], "canonical_name": "Diffuse pancreatic islet hyperplasia", "definition": "Hyperplasia of the islets of Langerhans with a generalized distribution. []"} {"concept_id": "C4531266", "aliases": [], "types": ["T019"], "canonical_name": "Focal pancreatic islet hyperplasia", "definition": "Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others. []"} {"concept_id": "C4531267", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating thyroxine-binding globulin level", "definition": "An elevated concentration of thyroxine-binding globulin (TBG) in the blood. []"} {"concept_id": "C4531268", "aliases": [], "types": ["T034"], "canonical_name": "Abnormal radioactive iodine uptake test result", "definition": "Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. []"} {"concept_id": "C4531269", "aliases": [], "types": ["T033"], "canonical_name": "Reduced radioactive iodine uptake", "definition": "A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. []"} {"concept_id": "C4531270", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating progesterone", "definition": "An elevated concentration of progesterone in the blood. []"} {"concept_id": "C4531271", "aliases": ["Decreased circulating dehydroepiandrosterone-sulfate level"], "types": ["T033"], "canonical_name": "Decreased circulating dehydroepiandrosterone-sulfate concentration", "definition": "A reduced concentration of dehydroepiandrosterone-sulfate in the blood. []"} {"concept_id": "C4531272", "aliases": ["Decreased circulating dehydroepiandrosterone level"], "types": ["T033"], "canonical_name": "Decreased circulating dehydroepiandrosterone concentration"} {"concept_id": "C4531273", "aliases": ["Elevated circulating 17-OHP"], "types": ["T033"], "canonical_name": "Elevated circulating 17-hydroxyprogesterone", "definition": "An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase. []"} {"concept_id": "C4531274", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating progesterone level"} {"concept_id": "C4531276", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating hyaluronic acid concentration", "definition": "A deviation from the normal concentration of hyaluronic acid in the blood. [PMID:11861239]"} {"concept_id": "C4531277", "aliases": ["Decreased lipoprotein lipase level"], "types": ["T033"], "canonical_name": "Decreased circulating lipoprotein lipase concentration", "definition": "Reduction in the level of lipoprotein lipase in the blood. [PMID:18194851, PMID:30725725]"} {"concept_id": "C4531278", "aliases": ["Increased pituitary glycoprotein polypeptide alpha subunit level", "Increased pituitary glycoprotein alpha subunit level"], "types": ["T033"], "canonical_name": "Increased pituitary glycoprotein hormone alpha subunit level", "definition": "An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. []"} {"concept_id": "C4531279", "aliases": [], "types": ["T033"], "canonical_name": "Striatal T2 hyperintensity", "definition": "Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging. [PMID:27058447]"} {"concept_id": "C4531280", "aliases": ["Reduced leukocyte acid lipase activity"], "types": ["T033"], "canonical_name": "Reduced lysosomal acid lipase activity", "definition": "Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. [PMID:22227072]"} {"concept_id": "C4531281", "aliases": [], "types": ["T033"], "canonical_name": "Bacterial cell casts", "definition": "A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection. [PMID:26079824]"} {"concept_id": "C4531282", "aliases": ["Acellular casts"], "types": ["T033"], "canonical_name": "Acellular urinary casts", "definition": "A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells. []"} {"concept_id": "C4531283", "aliases": [], "types": ["T033"], "canonical_name": "Renal tubular epithelial cell casts", "definition": "A type of cellular urinary cast composed of renal tubular epithelial cells. []"} {"concept_id": "C4531284", "aliases": [], "types": ["T190"], "canonical_name": "Thin myocardium compact layer", "definition": "Reduced thickness of the outer, dense layer of the myocardium. []"} {"concept_id": "C4531285", "aliases": [], "types": ["T190"], "canonical_name": "Apical hypertrabeculation of the left ventricle", "definition": "An increased number and density of the trabeculae in the apex (tip) of the left ventricle. []"} {"concept_id": "C4531286", "aliases": [], "types": ["T033"], "canonical_name": "Increased density of left ventricular trabeculae", "definition": "An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae). []"} {"concept_id": "C4531287", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal morphology of right ventricular trabeculae", "definition": "Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae). []"} {"concept_id": "C4531288", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal morphology of left ventricular trabeculae", "definition": "Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae). []"} {"concept_id": "C4531289", "aliases": ["Deep perivascular inflammatory infiltrate"], "types": ["T033"], "canonical_name": "Deep dermal perivascular inflammatory infiltrate", "definition": "Numerous lymphocytes surrounding blood vessels in the deep part of the dermis. []"} {"concept_id": "C4531290", "aliases": ["Superficial perivascular inflammatory infiltrate"], "types": ["T190"], "canonical_name": "Superficial dermal perivascular inflammatory infiltrate", "definition": "Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis. []"} {"concept_id": "C4531291", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal breast physiology", "definition": "Any anomaly of the function of the breast. []"} {"concept_id": "C4531292", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal breast morphology", "definition": "Any anomaly of the structure of the breast. []"} {"concept_id": "C4531293", "aliases": [], "types": ["T033"], "canonical_name": "Periungual teleangiectasia", "definition": "Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails. []"} {"concept_id": "C4531294", "aliases": ["Periorbital ecchymosis with tarsal plate sparing"], "types": ["T033"], "definition": "Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate. [PMID:20411091]", "canonical_name": "Raccoon eyes"} {"concept_id": "C4531295", "aliases": [], "types": ["T033"], "canonical_name": "Periorbital purpura", "definition": "Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding. []"} {"concept_id": "C4531296", "aliases": ["Optic pathway misrouting", "Visual pathway misrouting"], "types": ["T190"], "canonical_name": "Optic nerve misrouting", "definition": "Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp). []"} {"concept_id": "C4531298", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal coronary artery morphology", "definition": "Any structural abnormality of the coronary arteries. [HPO:probinson]"} {"concept_id": "C4531299", "aliases": [], "types": ["T047"], "canonical_name": "Premature occlusive vascular stenosis", "definition": "Peripheral arterial stenosis with onset before the age of 50 years. []"} {"concept_id": "C4531300", "aliases": [], "types": ["T033"], "canonical_name": "Frequent nosebleeds"} {"concept_id": "C4538849", "aliases": ["Multi-lobulated spleen"], "types": ["T019"], "canonical_name": "Multilobulated spleen", "definition": "The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen. [PMID:23710135]"} {"concept_id": "C4539078", "aliases": ["Midline supraumbilical raphe"], "types": ["T190"], "canonical_name": "Supraumbilical raphe", "definition": "An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button). [https://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/phace-syndrome-handbook/ventral-or-midline-abnormalities, PMID:24075092]"} {"concept_id": "C4539786", "aliases": [], "types": ["T033"], "canonical_name": "Absent sperm flagella", "definition": "Sperm cells lacking flagella. [PMID:30867909]"} {"concept_id": "C4539787", "aliases": [], "types": ["T033"], "canonical_name": "Short sperm flagella", "definition": "Sperm cells with abnormally short flagella. [PMID:30867909]"} {"concept_id": "C4539789", "aliases": [], "types": ["T033"], "canonical_name": "Coiled sperm flagella", "definition": "Sperm cells whose flagella are twisted (coiled). [PMID:28552195]"} {"concept_id": "C4539938", "aliases": [], "types": ["T190"], "canonical_name": "Dysplasia of the superior cerebellar vermis"} {"concept_id": "C4540467", "aliases": ["Dysmegakaryopoiesis"], "types": ["T033"], "canonical_name": "Megakaryocyte dysplasia", "definition": "The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. [PMID:27127725]"} {"concept_id": "C4544271", "aliases": [], "types": ["T048"], "definition": "A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia. [PMID:28631987]", "canonical_name": "Impaired executive functioning"} {"concept_id": "C4551442", "aliases": ["Retinal holes"], "types": ["T047"], "definition": "A small break in the retina. [HPO:probinson]", "canonical_name": "Retinal hole"} {"concept_id": "C4551446", "aliases": [], "types": ["T033"], "canonical_name": "Swollen lymph nodes in the neck"} {"concept_id": "C4551464", "aliases": ["Aplasia/hypoplasia of the extremities", "Absent/underdeveloped extremities", "Short or absent limbs", "Shortened limbs"], "types": ["T019"], "definition": "Absence (due to failure to form) or underdevelopment of the extremities. [HPO:probinson]", "canonical_name": "Absent/small extremities"} {"concept_id": "C4551473", "aliases": ["Cystic medial necrosis"], "types": ["T047"], "definition": "A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells. [HPO:probinson]", "canonical_name": "Arterial cystic medial necrosis"} {"concept_id": "C4551485", "aliases": ["Permanent curving of the finger"], "types": ["T019"], "definition": "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). [PMID:16252026]", "canonical_name": "Clinodactyly"} {"concept_id": "C4551488", "aliases": ["Forked uvula", "Split uvula", "Bifid palatine uvula", "Cleft of uvula", "Bifid uvula", "Uvula bifida"], "types": ["T019"], "definition": "Uvula separated into two parts most easily seen at the tip. [PMID:19125428]", "canonical_name": "Cleft uvula"} {"concept_id": "C4551489", "aliases": [], "types": ["T019"], "canonical_name": "Ureter duplex", "definition": "A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder. [Eurenomics:fschaefer]"} {"concept_id": "C4551490", "aliases": [], "types": ["T019"], "definition": "A gonad that contains both ovarian follicles and testicular tubular elements. [HPO:probinson]", "canonical_name": "Ovotestis"} {"concept_id": "C4551491", "aliases": ["Absent penis"], "types": ["T019"], "definition": "An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.", "canonical_name": "Aphallia"} {"concept_id": "C4551492", "aliases": ["Small penis", "Short penis"], "types": ["T019"], "definition": "Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. [HPO:probinson, PMID:15102623]", "canonical_name": "Micropenis"} {"concept_id": "C4551493", "aliases": ["Situs inversus totalis", "situs oppositus", "All organs on wrong side of body"], "types": ["T019"], "definition": "A left-right reversal (or mirror reflection\") of the anatomical location of the major thoracic and abdominal organs.\" [DDD:dbrown, HPO:probinson]", "canonical_name": "situs transversus"} {"concept_id": "C4551507", "aliases": [], "types": ["T019"], "definition": "Diffusely large eye (with megalocornea) associated with glaucoma. []", "canonical_name": "Buphthalmos"} {"concept_id": "C4551516", "aliases": [], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. [UToronto:chum]", "canonical_name": "Hip pain"} {"concept_id": "C4551517", "aliases": [], "types": ["T033"], "canonical_name": "Flared nostrils"} {"concept_id": "C4551519", "aliases": ["Sixth nerve palsy", "Abducens palsy", "Lateral rectus muscle denervation paresis", "Abducens nerve paralysis", "Cranial nerve VI palsy", "Abducens nerve palsy"], "types": ["T047"], "definition": "Paralysis of the abducens nerve.", "canonical_name": "Abducens nerve paresis"} {"concept_id": "C4551520", "aliases": ["Cerebellar tremor"], "types": ["T184"], "definition": "A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). [HPO:probinson, PMID:16344298]", "canonical_name": "Intention tremor"} {"concept_id": "C4551521", "aliases": [], "types": ["T184"], "definition": "Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. []", "canonical_name": "Kinetic tremor"} {"concept_id": "C4551555", "aliases": [], "types": ["T019"], "definition": "Congenital onset of a marked decrease in the number of granulocytes. [HPO:probinson]", "canonical_name": "Congenital agranulocytosis"} {"concept_id": "C4551560", "aliases": ["Centripetal obesity"], "types": ["T033"], "definition": "Obesity in which excess fat is accumulated primarily in the area of the abdomen.", "canonical_name": "Truncal obesity"} {"concept_id": "C4551563", "aliases": ["Small head circumference", "Decreased size of skull", "Decreased size of cranium", "Small skull", "Reduced head circumference", "Decreased circumference of cranium", "Decreased size of head", "Abnormally small skull", "Abnormally small head", "small calvarium", "Abnormally small cranium", "Small head", "Microcephaly"], "types": ["T033"], "definition": "Head circumference below 2 standard deviations below the mean for age and gender. [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597]", "canonical_name": "small cranium"} {"concept_id": "C4551564", "aliases": ["Narrow nasal root", "Narrow bridge of nose", "Nasal bridge, thin", "Narrow nasal bridge", "Nasal Bridge, Narrow"], "types": ["T033"], "canonical_name": "Narrow nasal bridge", "definition": "Decreased width of the bony bridge of the nose. [PMID:19152422]"} {"concept_id": "C4551565", "aliases": [], "types": ["T047"], "definition": "A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. [HPO:probinson, PMID:26745253]", "canonical_name": "Rachitic rosary"} {"concept_id": "C4551566", "aliases": [], "types": ["T190"], "canonical_name": "Equinovarus deformity"} {"concept_id": "C4551567", "aliases": ["Abnormality of granulocytes"], "types": ["T033"], "canonical_name": "Abnormal granulocyte morphology", "definition": "Any structural abnormality or abnormal count of granulocytes. [HPO:probinson]"} {"concept_id": "C4551570", "aliases": ["Webbed 2nd and 3rd toes", "partial or complete syndactyly 2nd-3rd toes", "Syndactyly of second and third toes", "2-3 toes syndactyly", "2-3 toe soft tissue syndactyly", "Toe syndactyly, 2-3", "2-3 syndactyly of feet"], "types": ["T019"], "canonical_name": "2-3 toe syndactyly", "definition": "Syndactyly with fusion of toes two and three. [HPO:sdoelken]"} {"concept_id": "C4551583", "aliases": ["Cerebral cortical atrophy", "Decrease in size of the outer layer of the brain due to loss of brain cells", "Cortical atrophy"], "types": ["T047"], "definition": "Atrophy of the cortex of the cerebrum. [HPO:probinson]", "canonical_name": "Cerebral cortex atrophy"} {"concept_id": "C4551584", "aliases": ["Brain atrophy"], "types": ["T047"], "definition": "Partial or complete wasting (loss) of brain tissue that was once present. [HPO:probinson]", "canonical_name": "Brain wasting"} {"concept_id": "C4551591", "aliases": ["Increased circulating high-density lipoprotein levels", "High blood HDL level"], "types": ["T033"], "canonical_name": "Increased HDL cholesterol concentration", "definition": "An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. [HPO:probinson]"} {"concept_id": "C4551596", "aliases": ["Kidney malformation", "Abnormally shaped kidney", "Structural renal anomalies", "Structural anomalies of the renal tract", "Abnormal renal morphology", "Structural kidney abnormalities", "Abnormal kidney morphology", "Renal malformation"], "types": ["T190"], "definition": "Any structural anomaly of the kidney. [HPO:probinson]", "canonical_name": "Kidney structure issue"} {"concept_id": "C4551626", "aliases": [], "types": ["T019"], "definition": "Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion. [PMID:19398672]", "canonical_name": "Unroofed coronary sinus"} {"concept_id": "C4551627", "aliases": [], "types": ["T047"], "definition": "A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood.", "canonical_name": "Granulocytopenia"} {"concept_id": "C4551629", "aliases": [], "types": ["T019"], "canonical_name": "Congenital talipes calcaneovalgus"} {"concept_id": "C4551631", "aliases": [], "types": ["T047"], "canonical_name": "Cystic liver disease"} {"concept_id": "C4551632", "aliases": ["Recurring pancreas inflammation", "Recurring pancreatitis"], "types": ["T047"], "definition": "A recurrent form of pancreatitis. [HPO:probinson]", "canonical_name": "Recurrent pancreatitis"} {"concept_id": "C4551635", "aliases": ["Green-blind"], "types": ["T047"], "definition": "Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green. [DDD:gblack]", "canonical_name": "Deuteranopia"} {"concept_id": "C4551646", "aliases": [], "types": ["T019"], "definition": "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull. [HPO:curators]", "canonical_name": "Oxycephaly"} {"concept_id": "C4551649", "aliases": ["Hip dysplasia"], "types": ["T019"], "definition": "Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males.", "canonical_name": "Congenital hip dysplasia"} {"concept_id": "C4551650", "aliases": ["Narrowing of esophagus due to inflammation and scar tissue", "Narrowing of oesophagus due to inflammation and scar tissue"], "types": ["T047"], "definition": "Narrowing of the lumen of the esophagus.", "canonical_name": "Esophageal stricture"} {"concept_id": "C4551651", "aliases": [], "types": ["T047"], "canonical_name": "Pilonidal fistula"} {"concept_id": "C4551654", "aliases": ["Altman type IV sacrococcygeal teratoma", "Retrorectal teratoma"], "types": ["T191"], "definition": "A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV). [HPO:probinson]", "canonical_name": "Presacral teratoma"} {"concept_id": "C4551659", "aliases": ["Intraretinal haemorrhage"], "types": ["T047"], "definition": "A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. [UManchester:psergouniotis]", "canonical_name": "Intraretinal hemorrhage"} {"concept_id": "C4551661", "aliases": ["Refractory sideroblastic anemia"], "types": ["T047"], "definition": "A type of sideroblastic anemia that is not responsive to treatment. [HPO:probinson]", "canonical_name": "Refractory sideroblastic anaemia"} {"concept_id": "C4551670", "aliases": ["Exodeviation"], "types": ["T047"], "definition": "A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. [ORCID:0000-0003-0986-4123]", "canonical_name": "Divergent strabismus"} {"concept_id": "C4551675", "aliases": ["Palmar and plantar keratoderma", "Palmoplantar keratoderma"], "types": ["T047"], "definition": "Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).", "canonical_name": "Thickening of palms and soles"} {"concept_id": "C4551676", "aliases": ["Laryngeal stridor"], "types": ["T033"], "definition": "An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat. [HPO:probinson]", "canonical_name": "Laryngeal stidor"} {"concept_id": "C4551677", "aliases": [], "types": ["T019"], "definition": "Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst. [PMID:9514174, UToronto:chum]", "canonical_name": "Myelocystocele"} {"concept_id": "C4551680", "aliases": ["Generalised osteoporosis"], "types": ["T047"], "canonical_name": "Generalized osteoporosis"} {"concept_id": "C4551683", "aliases": ["Pheochromocytomas, adrenal", "Adrenal pheochromocytoma"], "types": ["T191"], "definition": "A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.", "canonical_name": "Pheochromocytoma, adrenal"} {"concept_id": "C4551685", "aliases": ["Paralysed diaphragm", "Diaphragmatic paralysis"], "types": ["T033"], "definition": "The presence of a paralyzed diaphragm. [HPO:probinson, PMID:3612666]", "canonical_name": "Paralyzed diaphragm"} {"concept_id": "C4551687", "aliases": ["Soft tissue sarcomas"], "types": ["T191"], "definition": "A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.", "canonical_name": "Soft tissue sarcoma"} {"concept_id": "C4551690", "aliases": [], "types": ["T019"], "definition": "An umbilical cyst that arises from allantoic tissue that did not regress during gestational development. Most cases involve a patent urachus that allows for communication to the urinary bladder.", "canonical_name": "Allantoic cyst"} {"concept_id": "C4551691", "aliases": [], "types": ["T047"], "definition": "Narrowing of the lumen of the urethra.", "canonical_name": "Urethral stricture"} {"concept_id": "C4551694", "aliases": [], "types": ["T184"], "canonical_name": "Bull's eye rash", "definition": "A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings. []"} {"concept_id": "C4551695", "aliases": [], "types": ["T033"], "canonical_name": "Retinal vascular proliferation"} {"concept_id": "C4551705", "aliases": [], "types": ["T049"], "canonical_name": "Abnormality of chromosome stability", "definition": "A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. [HPO:probinson]"} {"concept_id": "C4551714", "aliases": ["Rod-cone dystrophy"], "types": ["T047"], "definition": "An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. [HPO:probinson, PMID:20212494]", "canonical_name": "Rod cone dystrophy"} {"concept_id": "C4551715", "aliases": [], "types": ["T047"], "definition": "An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. [ORCID:0000-0003-0986-4123]", "canonical_name": "Pigmentary retinopathy"} {"concept_id": "C4551722", "aliases": ["Encephalocele", "Bifid skull"], "types": ["T019"], "definition": "A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.", "canonical_name": "Cranium bifidum"} {"concept_id": "C4551734", "aliases": ["Convergent strabismus", "Esodeviation"], "types": ["T047"], "definition": "A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. [ORCID:0000-0003-0986-4123]", "canonical_name": "Convergent squint"} {"concept_id": "C4551761", "aliases": ["Excessive daytime somnolence", "Excessive daytime sleepiness"], "types": ["T184"], "definition": "A state of abnormally strong desire for sleep during the daytime. []", "canonical_name": "More than typical sleepiness during day"} {"concept_id": "C4551766", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent infections of the middle ear", "definition": "Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections [ORCID:0000-0001-7941-2961]"} {"concept_id": "C4551767", "aliases": ["Red-blind"], "types": ["T047"], "definition": "Blue and green cones only; no functional red cones. [DDD:gblack]", "canonical_name": "Protanopia"} {"concept_id": "C4551802", "aliases": [], "types": ["T019"], "definition": "Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. [HPO:probinson, PMID:10084535]", "canonical_name": "Basilar impression"} {"concept_id": "C4551831", "aliases": [], "types": ["T047"], "definition": "Urticaria caused by physical agents, such as heat, cold, light, friction. [PMID:11702618]", "canonical_name": "Physical urticaria"} {"concept_id": "C4551835", "aliases": [], "types": ["T191"], "canonical_name": "Intralobar nephroblastomatosis", "definition": "Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). [DDD:rscott]"} {"concept_id": "C4551836", "aliases": [], "types": ["T191"], "canonical_name": "Perilobar nephroblastomatosis", "definition": "Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). [DDD:rscott]"} {"concept_id": "C4551850", "aliases": ["Eyelid myoclonias"], "types": ["T047"], "canonical_name": "Focal seizure with eyelid myoclonia", "definition": "Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures. [HPO:ihelbig]"} {"concept_id": "C4551853", "aliases": ["Diaphyseal sclerosis", "Diaphyseal osteosclerosis", "Craniodiaphyseal osteosclerosis"], "types": ["T033"], "definition": "An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]", "canonical_name": "Increased bone density in shaft of long bone"} {"concept_id": "C4551877", "aliases": [], "types": ["T033"], "definition": "An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase. [HPO:probinson]", "canonical_name": "Propionyl-CoA carboxylase deficiency"} {"concept_id": "C4551893", "aliases": ["Hypertensive disorder of pregnancy", "Toxemia of pregnancy"], "types": ["T047"], "definition": "A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.", "canonical_name": "Toxaemia of pregnancy"} {"concept_id": "C4551900", "aliases": ["Teeth, double", "Twinning tooth", "Double tooth"], "types": ["T190"], "definition": "Fusion of two adjacent teeth. [HPO:ibailleulforestier, PMID:31468724]", "canonical_name": "Conjoined teeth"} {"concept_id": "C4551903", "aliases": ["Total anomalous pulmonary venous drainage", "Total anomalous pulmonary venous return"], "types": ["T047"], "definition": "A rare congenital heart disorder in which all four pulmonary veins are not connected to the left atrium and drain into the systemic veins or the right atrium instead. Infants present with cyanosis, lethargy, tachypnea, respiratory infections, and poor growth.", "canonical_name": "Total anomalous pulmonary venous connection"} {"concept_id": "C4551905", "aliases": ["Anomalous pulmonary venous return"], "types": ["T019"], "definition": "A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. [HPO:probinson]", "canonical_name": "Pulmonary venolobar syndrome"} {"concept_id": "C4551956", "aliases": [], "types": ["T033"], "definition": "Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present. [HPO:probinson]", "canonical_name": "Reduced upper to lower segment ratio"} {"concept_id": "C4551970", "aliases": ["Endplate sclerosis"], "types": ["T033"], "canonical_name": "Sclerotic vertebral endplates", "definition": "Sclerosis (increased density) affecting vertebral end plates. [HPO:curators]"} {"concept_id": "C4551978", "aliases": [], "types": ["T190"], "definition": "Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm. [HPO:probinson]", "canonical_name": "Short forearm"} {"concept_id": "C4551997", "aliases": ["Nystagmus, congenital horizontal"], "types": ["T047"], "canonical_name": "Congenital horizontal nystagmus", "definition": "Horizontal nystagmus dating from or present at birth. [HPO:curators]"} {"concept_id": "C4552011", "aliases": ["Pituitary gonadotropin deficiency"], "types": ["T047"], "definition": "A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). [DDD:spark]", "canonical_name": "Gonadotropin deficiency"} {"concept_id": "C4552061", "aliases": ["Mandibular pain"], "types": ["T184"], "definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. []", "canonical_name": "Lower jaw pain"} {"concept_id": "C4552097", "aliases": [], "types": ["T047"], "definition": "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.", "canonical_name": "Linear nevus sebaceous"} {"concept_id": "C4552108", "aliases": [], "types": ["T033"], "canonical_name": "Short hands"} {"concept_id": "C4552109", "aliases": ["Tessier facial cleft number 0"], "types": ["T019"], "canonical_name": "Tessier number 0 facial cleft", "definition": "A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension. [PMID:2503273]"} {"concept_id": "C4552110", "aliases": ["Tessier facial cleft number 14"], "types": ["T019"], "canonical_name": "Tessier number 14 facial cleft", "definition": "This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan. [PMID:2503273]"} {"concept_id": "C4552111", "aliases": ["Tessier facial cleft number 7", "Tessier number 7 facial cleft"], "types": ["T019"], "definition": "The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate. [PMID:2503273]", "canonical_name": "Tessier cleft number 7"} {"concept_id": "C4552113", "aliases": ["Tessier facial cleft number 8"], "types": ["T019"], "canonical_name": "Tessier number 8 facial cleft", "definition": "The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae. [PMID:2503273]"} {"concept_id": "C4552766", "aliases": ["Miscarriage", "Spontaneous abortion"], "types": ["T046"], "definition": "A loss of PREGNANCY from natural causes before the 20th week of pregnancy. (2017/18 ICD-10-CM)", "canonical_name": "Early fetal demise"} {"concept_id": "C4553254", "aliases": ["PTa depression", "PR interval depression"], "types": ["T033"], "definition": "A reduction in voltage of the PR segment below baseline. []", "canonical_name": "PR segment depression"} {"concept_id": "C4554010", "aliases": [], "types": ["T019"], "definition": "Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other. [PMID:21731561]", "canonical_name": "Isomerism"} {"concept_id": "C4554343", "aliases": ["Eyelid twitch", "Lid twitch", "Cogan eyelid twitch"], "types": ["T033"], "definition": "Transient eyelid retraction during refixation from down to straight ahead. [ORCID:0000-0003-0986-4123]", "canonical_name": "Cogan lid twitch"} {"concept_id": "C4554344", "aliases": ["Food allergy", "Immunoglobulin E-mediated food allergy"], "types": ["T047"], "definition": "Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods. [PMID:27069254, PMID:27069841]", "canonical_name": "IgE-mediated food allergy"} {"concept_id": "C4555202", "aliases": [], "types": ["T033"], "canonical_name": "Narrow eyelid opening"} {"concept_id": "C4693760", "aliases": ["Small-head sperm"], "types": ["T033"], "canonical_name": "Microcephalic sperm head", "definition": "Decreased size of the head of sperm. []"} {"concept_id": "C4700166", "aliases": [], "types": ["T184"], "canonical_name": "Lemon sign", "definition": "The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles. [ORCID:0000-0001-8612-1062, PMID:12832584, PMID:29089832]"} {"concept_id": "C4703369", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal finger chase test"} {"concept_id": "C4703370", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal finger-nose-finger test"} {"concept_id": "C4703371", "aliases": [], "types": ["T033"], "canonical_name": "Less than 10 fetal movements in 12 hours"} {"concept_id": "C4703372", "aliases": [], "types": ["T033"], "canonical_name": "Low number of red blood cells or hemoglobin"} {"concept_id": "C4703373", "aliases": [], "types": ["T184"], "canonical_name": "Coughing up blood or blood-stained mucus"} {"concept_id": "C4703374", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal retropulsion test"} {"concept_id": "C4703375", "aliases": [], "types": ["T047"], "canonical_name": "Type IV atherosclerotic lesion", "definition": "In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion. [PMID:7648691]"} {"concept_id": "C4703376", "aliases": [], "types": ["T033"], "canonical_name": "Increased proportion of HLA DR+ T cells", "definition": "An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation. [PMID:11531958]"} {"concept_id": "C4703377", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic hands"} {"concept_id": "C4703378", "aliases": [], "types": ["T033"], "canonical_name": "Lower limb dysmetria", "definition": "A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg. [HPO:mtaboada, PMID:25573808]"} {"concept_id": "C4703379", "aliases": [], "types": ["T047"], "canonical_name": "Vertical incomitant strabismus", "definition": "A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703380", "aliases": [], "types": ["T047"], "canonical_name": "Horizontal incomitant strabismus"} {"concept_id": "C4703381", "aliases": [], "types": ["T033"], "canonical_name": "Reduced bone-marrow pro-B cell count", "definition": "A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19. []"} {"concept_id": "C4703382", "aliases": ["Anti-GM-CSF antibody positivity"], "types": ["T033"], "canonical_name": "Anti-granulocyte-macrophage colony stimulating factor antibody positivity", "definition": "The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor. [PMID:23509356]"} {"concept_id": "C4703383", "aliases": [], "types": ["T019"], "canonical_name": "Lamellar cataract with riders", "definition": "Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703384", "aliases": [], "types": ["T033"], "canonical_name": "Anterior chamber cells grade 1+", "definition": "Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. [PMID:16196117]"} {"concept_id": "C4703385", "aliases": [], "types": ["T033"], "canonical_name": "Anterior chamber cells grade 0.5+", "definition": "Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. [PMID:16196117]"} {"concept_id": "C4703386", "aliases": [], "types": ["T033"], "canonical_name": "Anterior chamber cells grade 0", "definition": "Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. [PMID:16196117]"} {"concept_id": "C4703387", "aliases": [], "types": ["T033"], "canonical_name": "Anterior chamber cells grade 2+", "definition": "Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. [PMID:16196117]"} {"concept_id": "C4703388", "aliases": [], "types": ["T033"], "canonical_name": "Anterior chamber cells grade 3+", "definition": "Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. []"} {"concept_id": "C4703389", "aliases": [], "types": ["T033"], "canonical_name": "Anterior chamber cells grade 4+", "definition": "Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. [PMID:16196117]"} {"concept_id": "C4703390", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal morphology of the choroidal vasculature"} {"concept_id": "C4703391", "aliases": ["Choroidal hyperpermeability"], "types": ["T190"], "canonical_name": "Choroidal vascular hyperpermeability", "definition": "Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA). [PMID:25709392]"} {"concept_id": "C4703392", "aliases": [], "types": ["T020"], "canonical_name": "Christmas tree cataract", "definition": "A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. [PMID:27190856]"} {"concept_id": "C4703393", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal superior vena cava morphology", "definition": "Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart. [MP:0006064]"} {"concept_id": "C4703394", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal inferior vena cava morphology", "definition": "Any structural anomaly of the principal vein draining blood from the lower portion of the body. [MP:0006063]"} {"concept_id": "C4703395", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal left atrium morphology", "definition": "Any structural abnormality of the left atrium. []"} {"concept_id": "C4703396", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal right atrium morphology", "definition": "Any structural abnormality of the right atrium. []"} {"concept_id": "C4703397", "aliases": ["Foveal haemorrhage"], "types": ["T047"], "canonical_name": "Foveal hemorrhage", "definition": "Bleeding occurring within the fovea. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703398", "aliases": ["Sub-macular hemorrhage", "Submacular haemorrhage", "Sub-macular haemorrhage"], "types": ["T046"], "canonical_name": "Submacular hemorrhage", "definition": "Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. [ORCID:0000-0003-0986-4123, PMID:23202390]"} {"concept_id": "C4703399", "aliases": [], "types": ["T033"], "canonical_name": "Tapetal-like fundal reflex", "definition": "Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals. []"} {"concept_id": "C4703400", "aliases": [], "types": ["T047"], "canonical_name": "Cyclodeviation", "definition": "Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes. [ORCID:0000-0003-0986-4123, PMID:15731772]"} {"concept_id": "C4703401", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal extraocular muscle physiology", "definition": "A functional anomaly of the muscles of the eye. []"} {"concept_id": "C4703402", "aliases": [], "types": ["T047"], "canonical_name": "Abnormal superior oblique muscle physiology", "definition": "A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703403", "aliases": [], "types": ["T033"], "canonical_name": "Superior oblique muscle weakness", "definition": "Decreased strength of the superior oblique muscle. []"} {"concept_id": "C4703404", "aliases": [], "types": ["T033"], "canonical_name": "Superior oblique muscle restriction", "definition": "Mechanical limitation of the range of movement of the superior oblique muscle. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703405", "aliases": ["Under-depression in adduction"], "types": ["T033"], "canonical_name": "Superior oblique muscle underaction", "definition": "Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703406", "aliases": [], "types": ["T047"], "canonical_name": "Abnormal inferior oblique muscle physiology", "definition": "A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703407", "aliases": [], "types": ["T046"], "canonical_name": "Inferior oblique muscle restriction", "definition": "Mechanical limitation of the range of movement of the inferior oblique muscle. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703408", "aliases": ["Inferior oblique palsy"], "types": ["T033"], "canonical_name": "Inferior oblique muscle weakness", "definition": "Decreased strength of the inferior oblique muscle. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703409", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal inferior rectus muscle physiology", "definition": "A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703410", "aliases": [], "types": ["T033"], "canonical_name": "Inferior rectus muscle weakness", "definition": "Decreased strength of the inferior rectus muscle. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703411", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal superior rectus muscle physiology", "definition": "A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703412", "aliases": [], "types": ["T191"], "canonical_name": "Orbital schwannoma", "definition": "A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit. []"} {"concept_id": "C4703413", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal medial rectus muscle physiology", "definition": "A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703414", "aliases": [], "types": ["T047"], "canonical_name": "Anterior blepharitis", "definition": "A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703415", "aliases": [], "types": ["T019"], "canonical_name": "Epicanthus superciliaris", "definition": "A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye). [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703416", "aliases": [], "types": ["T019"], "canonical_name": "Paramedian facial cleft", "definition": "A type of facial cleft located near to but not directly on the midline of the face. []"} {"concept_id": "C4703417", "aliases": [], "types": ["T019"], "canonical_name": "Tessier number 1 facial cleft", "definition": "As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly. [PMID:2503273]"} {"concept_id": "C4703418", "aliases": [], "types": ["T019"], "canonical_name": "Tessier number 2 facial cleft", "definition": "As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening. [PMID:2503273]"} {"concept_id": "C4703419", "aliases": [], "types": ["T019"], "canonical_name": "Tessier number 3 facial cleft", "definition": "As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced. [PMID:2503273]"} {"concept_id": "C4703420", "aliases": [], "types": ["T019"], "canonical_name": "Tessier number 4 facial cleft", "definition": "The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly. [PMID:2503273]"} {"concept_id": "C4703422", "aliases": [], "types": ["T019"], "canonical_name": "Tessier number 9 facial cleft", "definition": "This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa. [PMID:2503273]"} {"concept_id": "C4703423", "aliases": [], "types": ["T019"], "canonical_name": "Tessier number 10 facial cleft", "definition": "In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric. [PMID:2503273]"} {"concept_id": "C4703424", "aliases": [], "types": ["T019"], "canonical_name": "Tessier number 11 facial cleft", "definition": "An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal. [PMID:2503273]"} {"concept_id": "C4703425", "aliases": [], "types": ["T019"], "canonical_name": "Tessier number 12 facial cleft", "definition": "There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate. [PMID:2503273]"} {"concept_id": "C4703426", "aliases": [], "types": ["T019"], "canonical_name": "Tessier number 13 facial cleft", "definition": "There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above. [PMID:2503273]"} {"concept_id": "C4703427", "aliases": [], "types": ["T019"], "canonical_name": "Tessier number 30 facial cleft", "definition": "A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis. [PMID:22529554]"} {"concept_id": "C4703428", "aliases": ["Unhappy demeanour"], "types": ["T033"], "canonical_name": "Unhappy demeanor", "definition": "A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events. []"} {"concept_id": "C4703429", "aliases": ["Enlarged inferior vena cava valve"], "types": ["T190"], "canonical_name": "Enlarged Eustachian valve", "definition": "An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava. [PMID:12484622]"} {"concept_id": "C4703430", "aliases": [], "types": ["T190"], "canonical_name": "Giant Eustachian valve"} {"concept_id": "C4703431", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal PR interval", "definition": "An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds. [PMID:23677846]"} {"concept_id": "C4703432", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal P wave", "definition": "Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria. []"} {"concept_id": "C4703433", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal PR segment", "definition": "An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric. []"} {"concept_id": "C4703434", "aliases": [], "types": ["T033"], "canonical_name": "P wave inversion", "definition": "P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves. []"} {"concept_id": "C4703435", "aliases": ["Abnormal mucociliary transport"], "types": ["T033"], "canonical_name": "Abnormal mucociliary clearance", "definition": "An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating. []"} {"concept_id": "C4703436", "aliases": [], "types": ["T033"], "canonical_name": "Impaired nasal mucociliary clearance", "definition": "An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes. []"} {"concept_id": "C4703437", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal saccharine test"} {"concept_id": "C4703438", "aliases": ["Bony carotid canal agenesis"], "types": ["T190"], "canonical_name": "Agenesis of the carotid canal", "definition": "A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse. [PMID:21339912]"} {"concept_id": "C4703439", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of fundus pigmentation", "definition": "Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. []"} {"concept_id": "C4703440", "aliases": ["Sub-inner limiting membrane haemorrhage", "Sub-ILM haemorrhage", "Sub-ILM hemorrhage"], "types": ["T047"], "canonical_name": "Sub-inner limiting membrane hemorrhage", "definition": "A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer. [PMID:17229799]"} {"concept_id": "C4703441", "aliases": [], "types": ["T019"], "canonical_name": "Inferior chorioretinal coloboma", "definition": "Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus. []"} {"concept_id": "C4703442", "aliases": [], "types": ["T019"], "canonical_name": "Inferior retinal coloboma", "definition": "A notch or cleft of the lower part of the retina. []"} {"concept_id": "C4703443", "aliases": [], "types": ["T033"], "canonical_name": "Anterior chamber flare grade 1+", "definition": "Faint anterior chamber flare. [PMID:16196117]"} {"concept_id": "C4703444", "aliases": [], "types": ["T033"], "canonical_name": "Anterior chamber flare grade 2+", "definition": "Moderate anterior chamber flare (iris and lens details clear). [PMID:16196117]"} {"concept_id": "C4703445", "aliases": [], "types": ["T033"], "canonical_name": "Anterior chamber flare grade 3+", "definition": "Marked anterior chamber flare (iris and lens details hazy). [PMID:16196117]"} {"concept_id": "C4703446", "aliases": [], "types": ["T033"], "canonical_name": "Anterior chamber flare grade 4+", "definition": "Intense anterior chamber flare (fibrin/plastic aqueous). [PMID:16196117]"} {"concept_id": "C4703447", "aliases": ["Atresia of coronary ostium"], "types": ["T190"], "canonical_name": "Coronary ostial atresia", "definition": "Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve. []"} {"concept_id": "C4703448", "aliases": [], "types": ["T047"], "canonical_name": "Globus pallidus calcification", "definition": "Pathological deposition of calcium salts in the globus pallidus. []"} {"concept_id": "C4703449", "aliases": ["Sudden cardiac arrest"], "types": ["T033"], "definition": "Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. [ORCID:0000-0001-5835-5515, PMID:25187745]", "canonical_name": "Aborted sudden cardiac death"} {"concept_id": "C4703450", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal subpleural morphology", "definition": "Any structural anomaly located between the pleura and the chest wall. []"} {"concept_id": "C4703451", "aliases": [], "types": ["T190"], "canonical_name": "Subpleural honeycombing", "definition": "So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space. [PMID:23220902]"} {"concept_id": "C4703452", "aliases": [], "types": ["T019"], "canonical_name": "Anomalous origin of the right subclavian artery from the descending aorta", "definition": "Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery. []"} {"concept_id": "C4703453", "aliases": [], "types": ["T019"], "canonical_name": "Anomalous origin of the left common carotid artery from the main pulmonary artery", "definition": "The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery. [PMID:27974985]"} {"concept_id": "C4703454", "aliases": [], "types": ["T190"], "canonical_name": "Right coronary artery ostial atresia", "definition": "Absence of the normal opening of the coronary ostium from which the right main coronary artery originates. []"} {"concept_id": "C4703455", "aliases": [], "types": ["T019"], "canonical_name": "Anomalous origin of the left anterior descending artery from the pulmonary artery", "definition": "The left anterior descending artery (LAD) branches off from the pulmonary artery. [PMID:27358682]"} {"concept_id": "C4703456", "aliases": ["Absent LMCA"], "types": ["T190"], "canonical_name": "Absent left main coronary artery", "definition": "The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava. []"} {"concept_id": "C4703457", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal radial artery morphology", "definition": "Any structural anomaly of the radial artery. []"} {"concept_id": "C4703458", "aliases": [], "types": ["T047"], "canonical_name": "Fusiform ascending tubular aorta aneurysm", "definition": "An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall. []"} {"concept_id": "C4703459", "aliases": [], "types": ["T047"], "canonical_name": "Fusiform abdominal aortic aneurysm", "definition": "A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall []"} {"concept_id": "C4703460", "aliases": [], "types": ["T047"], "canonical_name": "Fusiform aortic arch aneurysm", "definition": "A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall. []"} {"concept_id": "C4703461", "aliases": [], "types": ["T047"], "canonical_name": "Saccular aortic arch aneurysm", "definition": "An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall. []"} {"concept_id": "C4703462", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal atrioventricular valve physiology", "definition": "Any functional defect of the mitral or tricuspid valve. []"} {"concept_id": "C4703463", "aliases": [], "types": ["T047"], "canonical_name": "Abnormal tricuspid valve physiology", "definition": "Any functional defect of the tricuspid valve. []"} {"concept_id": "C4703464", "aliases": [], "types": ["T047"], "canonical_name": "Abnormal aortic valve physiology"} {"concept_id": "C4703465", "aliases": [], "types": ["T047"], "canonical_name": "Abnormal heart valve physiology", "definition": "Any functional abnormality of a cardiac valve. []"} {"concept_id": "C4703466", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal pulmonary valve physiology", "definition": "Any functional anomaly of the pumonary valve. []"} {"concept_id": "C4703468", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal second heart sound", "definition": "Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration. []"} {"concept_id": "C4703469", "aliases": [], "types": ["T033"], "canonical_name": "Reverse typical atrial flutter", "definition": "A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1. [PMID:28835836]"} {"concept_id": "C4703470", "aliases": ["Orthodromic AVRT"], "types": ["T047"], "canonical_name": "Orthodromic atrioventricular reentrant tachycardia", "definition": "A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction. [PMID:29234357]"} {"concept_id": "C4703471", "aliases": ["Antidromic AVRT"], "types": ["T047"], "canonical_name": "Antidromic atrioventricular reentrant tachycardia", "definition": "A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction. []"} {"concept_id": "C4703472", "aliases": [], "types": ["T047"], "canonical_name": "Fascicular left ventricular tachycardia", "definition": "A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG). [PMID:29184614]"} {"concept_id": "C4703473", "aliases": [], "types": ["T047"], "canonical_name": "Atherosclerotic lesion", "definition": "A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus. [PMID:8172861]"} {"concept_id": "C4703474", "aliases": [], "types": ["T047"], "canonical_name": "Type I atherosclerotic lesion", "definition": "Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells). []"} {"concept_id": "C4703475", "aliases": [], "types": ["T047"], "canonical_name": "Type II atherosclerotic lesion", "definition": "Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid. [PMID:8172861]"} {"concept_id": "C4703476", "aliases": [], "types": ["T047"], "canonical_name": "Type III atherosclerotic lesion", "definition": "Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions. [PMID:8172861]"} {"concept_id": "C4703477", "aliases": [], "types": ["T047"], "canonical_name": "Type V atherosclerotic lesion", "definition": "Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant. []"} {"concept_id": "C4703478", "aliases": [], "types": ["T047"], "canonical_name": "Type VI atherosclerotic lesion", "definition": "Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes. [PMID:7648691]"} {"concept_id": "C4703479", "aliases": [], "types": ["T033"], "canonical_name": "Increased stool alpha1-antitrypsin concentration", "definition": "An abnormally elevated amount of alpha1-antitrypsin in the feces. []"} {"concept_id": "C4703480", "aliases": ["Accentuation of the pulmonic component of the second heart sound"], "types": ["T033"], "canonical_name": "Abnormally loud pulmonic component of the second heart sound"} {"concept_id": "C4703481", "aliases": [], "types": ["T047"], "definition": "An unusually severe infection by cytomegalovirus. [PMID:12588074]", "canonical_name": "Severe cytomegalovirus infection"} {"concept_id": "C4703482", "aliases": ["Fulminant infectious mononucleosis", "Severe EBV infection"], "types": ["T047"], "canonical_name": "Severe Epstein Barr virus infection", "definition": "An unusually severe Epstein Barr virus (EBV) infection. []"} {"concept_id": "C4703483", "aliases": [], "types": ["T047"], "canonical_name": "Severe adenovirus infection", "definition": "An unusually severe adenovirus infection. [PMID:24678403]"} {"concept_id": "C4703484", "aliases": [], "types": ["T047"], "canonical_name": "Severe parainfluenza infection", "definition": "An unusually severe infection by a parainfluenza virus. []"} {"concept_id": "C4703485", "aliases": [], "types": ["T047"], "canonical_name": "Disseminated viral infection", "definition": "A viral infection that fails to be contained by the immune sytem and spreads throughout the body. [PMID:28476145]"} {"concept_id": "C4703486", "aliases": [], "types": ["T047"], "canonical_name": "Disseminated infection with live vaccine virus", "definition": "A dissemination viral infection caused by a live attenuated vaccine virus. [PMID:25452596]"} {"concept_id": "C4703487", "aliases": [], "types": ["T047"], "canonical_name": "Disseminated cryptosporidium infection", "definition": "Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body. []"} {"concept_id": "C4703488", "aliases": [], "types": ["T047"], "canonical_name": "Invasive parasitic infection", "definition": "A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host. []"} {"concept_id": "C4703489", "aliases": [], "types": ["T033"], "canonical_name": "Anterior chamber inflammatory cells", "definition": "The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye. []"} {"concept_id": "C4703490", "aliases": ["Anterior chamber RBCs"], "types": ["T033"], "canonical_name": "Anterior chamber red blood cells", "definition": "The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye. []"} {"concept_id": "C4703491", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ear morphology", "definition": "Any structural anomaly of the ear. []"} {"concept_id": "C4703492", "aliases": [], "types": ["T047"], "canonical_name": "Abnormal ear physiology", "definition": "Any functional anomaly of the ear. []"} {"concept_id": "C4703493", "aliases": [], "types": ["T033"], "canonical_name": "Compensatory chin depression", "definition": "A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement. []"} {"concept_id": "C4703494", "aliases": [], "types": ["T033"], "canonical_name": "Compensatory face turn to the right", "definition": "A tendency to turn the face to the right to compensate for a limitation of eye movement. []"} {"concept_id": "C4703495", "aliases": [], "types": ["T033"], "canonical_name": "Compensatory face turn to the left", "definition": "A tendency to turn the face to the left to compensate for a limitation of eye movement. []"} {"concept_id": "C4703496", "aliases": [], "types": ["T033"], "canonical_name": "Compensatory head tilt to the right shoulder", "definition": "A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement. []"} {"concept_id": "C4703497", "aliases": [], "types": ["T033"], "canonical_name": "Compensatory head tilt to the left shoulder", "definition": "A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement. []"} {"concept_id": "C4703498", "aliases": [], "types": ["T047"], "canonical_name": "Asymmetric abdominal aortic aneurysm", "definition": "An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric). [PMID:12751282]"} {"concept_id": "C4703499", "aliases": [], "types": ["T047"], "canonical_name": "Constant exotropia", "definition": "A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703500", "aliases": [], "types": ["T047"], "canonical_name": "Cyclic exotropia", "definition": "A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703501", "aliases": [], "types": ["T047"], "canonical_name": "True distance exotropia", "definition": "Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703502", "aliases": [], "types": ["T047"], "canonical_name": "Simulated distance exotropia", "definition": "Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation. []"} {"concept_id": "C4703503", "aliases": ["Mild hyperopia"], "types": ["T047"], "canonical_name": "Mild hypermetropia", "definition": "A form of hypermetropia with not more than +2.00 diopters. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703504", "aliases": ["Moderate hyperopia"], "types": ["T047"], "canonical_name": "Moderate hypermetropia", "definition": "A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703505", "aliases": [], "types": ["T033"], "canonical_name": "Increased tear production", "definition": "Increased lacrimation owing to overproduction of tears. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703506", "aliases": [], "types": ["T033"], "canonical_name": "Increased basal tear production", "definition": "A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703507", "aliases": [], "types": ["T033"], "canonical_name": "Reflex tearing", "definition": "A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease). [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703508", "aliases": [], "types": ["T047"], "canonical_name": "Lacrimal pump failure", "definition": "A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703509", "aliases": [], "types": ["T047"], "canonical_name": "Abnormal oblique muscle physiology", "definition": "A functional anomaly of the inferior or superior oblique muscle. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703510", "aliases": [], "types": ["T047"], "canonical_name": "Abnormal horizontal rectus muscle physiology", "definition": "A functional anomaly of the medial rectus muscle or lateral rectus muscle. []"} {"concept_id": "C4703511", "aliases": [], "types": ["T033"], "canonical_name": "Inferior oblique muscle underaction", "definition": "Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703512", "aliases": [], "types": ["T046"], "canonical_name": "Inferior rectus muscle underaction", "definition": "Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703513", "aliases": [], "types": ["T046"], "canonical_name": "Inferior rectus muscle overaction", "definition": "Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703514", "aliases": [], "types": ["T033"], "canonical_name": "Superior rectus muscle weakness", "definition": "Decreased strength of the superior rectus muscle. []"} {"concept_id": "C4703515", "aliases": [], "types": ["T047"], "canonical_name": "Superior rectus muscle overaction", "definition": "Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703516", "aliases": [], "types": ["T046"], "canonical_name": "Superior rectus muscle restriction", "definition": "Mechanical limitation of the range of movement of the superior rectus muscle. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703517", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal vertical rectus muscle physiology", "definition": "A functional anomaly of the superior or inferior rectus muscle. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703518", "aliases": [], "types": ["T047"], "canonical_name": "Abnormal lateral rectus muscle physiology", "definition": "A functional anomaly of the lateral rectus muscle. []"} {"concept_id": "C4703519", "aliases": [], "types": ["T046"], "canonical_name": "Lateral rectus muscle weakness", "definition": "Decreased strength (ability to move) of the lateral rectus muscle. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703520", "aliases": [], "types": ["T046"], "canonical_name": "Lateral rectus muscle underaction", "definition": "Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703521", "aliases": [], "types": ["T033"], "canonical_name": "Lateral rectus muscle overaction", "definition": "Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. []"} {"concept_id": "C4703522", "aliases": [], "types": ["T046"], "canonical_name": "Medial rectus muscle weakness", "definition": "Decreased strength of the medial rectus muscle. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703523", "aliases": [], "types": ["T046"], "canonical_name": "Medial rectus muscle overaction", "definition": "Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. []"} {"concept_id": "C4703524", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal rectus muscle physiology", "definition": "A functional anomaly of a vertical or horizontal rectus muscle. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703525", "aliases": [], "types": ["T047"], "canonical_name": "Medial rectus muscle underaction", "definition": "Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703526", "aliases": [], "types": ["T046"], "canonical_name": "Lateral rectus muscle restriction", "definition": "Mechanical limitation of the range of movement of the lateral rectus muscle. []"} {"concept_id": "C4703527", "aliases": ["Basic (constant) esotropia"], "types": ["T047"], "canonical_name": "Basic constant esotropia", "definition": "A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times). [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703528", "aliases": [], "types": ["T047"], "canonical_name": "Non-accomodative esotropia", "definition": "A form of esotropia in which the angle of deviation is not affected by accommodative effort. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703529", "aliases": ["Infantile (constant) esotropia"], "types": ["T033"], "canonical_name": "Infantile constant esotropia", "definition": "Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction. [UManchester:psergouniotis]"} {"concept_id": "C4703530", "aliases": [], "types": ["T047"], "canonical_name": "Fully accomodative esotropia", "definition": "Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703531", "aliases": ["Constant esotropia with an accommodative element", "Constant esotropia with an accommodative component"], "types": ["T047"], "canonical_name": "Partially accomodative esotropia", "definition": "A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703532", "aliases": [], "types": ["T033"], "canonical_name": "Parafoveal fixation", "definition": "Fixation of an object in the area adjacent to the fovea. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703533", "aliases": [], "types": ["T033"], "canonical_name": "Peripheral fixation", "definition": "Fixation of an object in a peripheral area of the retina. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703534", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal posterior circulating artery morphology", "definition": "Any structural anomaly of the posterior circulating artery (PCOM). []"} {"concept_id": "C4703535", "aliases": [], "types": ["T190"], "canonical_name": "Posterior communicating artery infundibulum", "definition": "A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery. [PMID:9848859]"} {"concept_id": "C4703536", "aliases": [], "types": ["T047"], "canonical_name": "Eosinophilic ascites", "definition": "A type of ascites in which there are large numbers of eosinophils in the ascitis fluid. [PMID:27721930]"} {"concept_id": "C4703537", "aliases": [], "types": ["T047"], "canonical_name": "Microtropia with identity", "definition": "A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC. [ORCID:0000-0003-0986-4123, PMID:9602615]"} {"concept_id": "C4703538", "aliases": [], "types": ["T047"], "canonical_name": "Microtropia without identity", "definition": "A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test. [ORCID:0000-0003-0986-4123, PMID:9602615]"} {"concept_id": "C4703539", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ascending aorta morphology", "definition": "Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise. [MP:0009867]"} {"concept_id": "C4703540", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal eyelid movement", "definition": "An abnormality in voluntary or involuntary eyelid movements or their control. []"} {"concept_id": "C4703541", "aliases": ["Elevated circulating leptin level"], "types": ["T033"], "canonical_name": "Increased serum leptin", "definition": "An increased concentration of leptin in the blood. [RGD:sjwang]"} {"concept_id": "C4703542", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating glycerol level", "definition": "A decrease below the normal concentration of glycerol in the blood. []"} {"concept_id": "C4703543", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating glycerol level", "definition": "Any deviation from the normal concentration of glycerol in the blood. []"} {"concept_id": "C4703544", "aliases": ["Elevated ApoB level", "Elevated apolipoprotein B level"], "types": ["T033"], "canonical_name": "Elevated circulating apolipoprotein B concentration", "definition": "Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100. [ORCID:0000-0001-5356-4174]"} {"concept_id": "C4703545", "aliases": ["Decreased apolipoprotein AI level", "Decreased apo-AI level", "Decreased apoA-I level"], "types": ["T033"], "canonical_name": "Decreased circulating apolipoprotein AI concentration", "definition": "Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease. [ORCID:0000-0001-5356-4174]"} {"concept_id": "C4703546", "aliases": ["Elevated apoA-II level", "Elevated APOAII level", "Elevated apolipoprotein A-II level", "Elevated Apo-AII level"], "types": ["T033"], "canonical_name": "Elevated circulating apolipoprotein A-II concentration", "definition": "An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism. [ORCID:0000-0001-5356-4174]"} {"concept_id": "C4703547", "aliases": ["Premacular haemorrhage"], "types": ["T047"], "canonical_name": "Premacular hemorrhage"} {"concept_id": "C4703548", "aliases": ["Knuckle dimple", "Archibald's metacarpal sign"], "types": ["T190"], "canonical_name": "Archibald's sign", "definition": "Shortening of the fourth and fifth metacarpals when the fist is clenched. [Gene42:pbuczkowicz, PMID:22075011, PMID:22629539]"} {"concept_id": "C4703551", "aliases": [], "types": ["T047"], "canonical_name": "Abnormal oral physiology", "definition": "A functional anomaly of the mouth (which is also known as the oral cavity). []"} {"concept_id": "C4703552", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal oral morphology", "definition": "Any structural anomaly of the mouth, which is also known as the oral cavity. []"} {"concept_id": "C4703553", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal waist to hip ratio", "definition": "A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement. []"} {"concept_id": "C4703554", "aliases": ["Increased waist-to-hip ratio", "Increased WHR", "Increased waist-hip ratio"], "types": ["T033"], "canonical_name": "Increased waist to hip ratio", "definition": "Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. [ORCID:0000-0001-5356-4174, PMID:12872269]"} {"concept_id": "C4703555", "aliases": ["Decreased WHR", "Decreased waist-hip ratio", "Decreased waist-to-hip ratio"], "types": ["T033"], "canonical_name": "Decreased waist to hip ratio", "definition": "Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. [PMID:12872269, RGD:gthayman]"} {"concept_id": "C4703556", "aliases": ["Abnormal GMP pyrophosphorylase level", "Abnormal 6-hydroxypurine phosphoribosyltransferase level", "Abnormal GPRT level"], "types": ["T033"], "canonical_name": "Abnormal hypoxanthine-guanine phosphoribosyltransferase level", "definition": "Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. [RGD:sjwang]"} {"concept_id": "C4703557", "aliases": ["Elevated GMP pyrophosphorylase level", "Elevated 6-mercaptopurine phosphoribosyltransferase level", "Elevated 6-hydroxypurine phosphoribosyltransferase level"], "types": ["T033"], "canonical_name": "Elevated hypoxanthine-guanine phosphoribosyltransferase level", "definition": "Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. [RGD:sjwang]"} {"concept_id": "C4703558", "aliases": ["Reduced 6-hydroxypurine phosphoribosyltransferase level", "Reduced GMP pyrophosphorylase level", "Reduced 6-mercaptopurine phosphoribosyltransferase level"], "types": ["T033"], "canonical_name": "Reduced hypoxanthine-guanine phosphoribosyltransferase level", "definition": "Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. [RGD:sjwang]"} {"concept_id": "C4703559", "aliases": [], "types": ["T047"], "canonical_name": "Hepatic mastocytosis", "definition": "Liver mast cell infiltration. [HPO:probinson, PMID:25009756]"} {"concept_id": "C4703560", "aliases": [], "types": ["T184"], "canonical_name": "Abnormal superficial reflex", "definition": "An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons. []"} {"concept_id": "C4703561", "aliases": [], "types": ["T033"], "canonical_name": "Decreased serum zinc", "definition": "A reduced concentration of zinc in the blood. [PMID:16518702, RGD:gthayman]"} {"concept_id": "C4703562", "aliases": [], "types": ["T033"], "canonical_name": "Hypermetric downward saccades", "definition": "Overshoot of downward saccadic eye movements. []"} {"concept_id": "C4703563", "aliases": [], "types": ["T033"], "canonical_name": "Hypometric upward saccades", "definition": "Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. []"} {"concept_id": "C4703564", "aliases": [], "types": ["T190"], "canonical_name": "Aortopulmonary collateral arteries", "definition": "Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus. [MP:0010635, PMID:26467877]"} {"concept_id": "C4703565", "aliases": ["Abnormal superoxide:superoxide oxidoreductase activity"], "types": ["T033"], "canonical_name": "Abnormal superoxide dismutase level", "definition": "An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. [PMID:25276767, RGD:gthayman]"} {"concept_id": "C4703566", "aliases": ["Increased superoxide:superoxide oxidoreductase activity"], "types": ["T033"], "canonical_name": "Increased superoxide dismutase level", "definition": "Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. [RGD:gthayman]"} {"concept_id": "C4703567", "aliases": ["Decreased superoxide:superoxide oxidoreductase activity"], "types": ["T033"], "canonical_name": "Decreased superoxide dismutase level", "definition": "Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. [PMID:25276767, RGD:gthayman]"} {"concept_id": "C4703568", "aliases": [], "types": ["T033"], "canonical_name": "Presence of xenobiotic", "definition": "Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids. []"} {"concept_id": "C4703569", "aliases": [], "types": ["T033"], "canonical_name": "Urine xenobiotic", "definition": "The presence of a xenobiotic in urine. []"} {"concept_id": "C4703570", "aliases": [], "types": ["T034"], "canonical_name": "Positive urine methadone test", "definition": "Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine. []"} {"concept_id": "C4703571", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal libido", "definition": "Any deviation from the normal sexual drive or desire for sexual activity. []"} {"concept_id": "C4703572", "aliases": [], "types": ["T033"], "canonical_name": "Difficulty walking backward", "definition": "Reduced ability to walk (ambulate) in a backwards direction. [HPO:probinson]"} {"concept_id": "C4703573", "aliases": [], "types": ["T033"], "canonical_name": "Cock-walk gait", "definition": "An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor. [PMID:24746291]"} {"concept_id": "C4703574", "aliases": ["Inverted sleep-wake cycle"], "types": ["T033"], "canonical_name": "Sleep-wake inversion", "definition": "A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night. []"} {"concept_id": "C4703575", "aliases": ["Left-sided isomerism"], "types": ["T019"], "canonical_name": "Left Isomerism", "definition": "A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures. [PMID:21731561]"} {"concept_id": "C4703576", "aliases": [], "types": ["T033"], "canonical_name": "Hobby horse gait", "definition": "An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward. [PMID:21956287]"} {"concept_id": "C4703577", "aliases": ["Ineffective esophageal motility"], "types": ["T033"], "canonical_name": "Ineffective esophageal peristalsis", "definition": "Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus. [PMID:28665309]"} {"concept_id": "C4703578", "aliases": [], "types": ["T033"], "canonical_name": "Esophageal furrows", "definition": "Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus). [PMID:25368745]"} {"concept_id": "C4703579", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal heart rate variability", "definition": "Any abnormality in the variability of the time interval between successive heartbeats. [PMID:8598068]"} {"concept_id": "C4703580", "aliases": ["Reduced heart rate variability"], "types": ["T033"], "canonical_name": "Decreased heart rate variability", "definition": "Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. [ORCID:0000-0001-5356-4174, PMID:8598068]"} {"concept_id": "C4703581", "aliases": [], "types": ["T033"], "canonical_name": "Increased heart rate variability", "definition": "Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. [ORCID:0000-0001-5356-4174, PMID:8598068]"} {"concept_id": "C4703582", "aliases": ["Abnormal hepatic physiology"], "types": ["T033"], "canonical_name": "Abnormal liver physiology", "definition": "Any functional anomaly of the liver. [HPO:probinson]"} {"concept_id": "C4703583", "aliases": [], "types": ["T033"], "canonical_name": "Neck hypertonia", "definition": "Increased passive stiffness or tightness of the neck musculature. []"} {"concept_id": "C4703584", "aliases": [], "types": ["T033"], "definition": "Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected. [ORCID:0000-0002-6601-2165, PMID:24607223]", "canonical_name": "Optic ataxia"} {"concept_id": "C4703585", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal Langerhans cell morphology", "definition": "Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis. [PMID:29449841]"} {"concept_id": "C4703586", "aliases": [], "types": ["T190"], "canonical_name": "Absent Birbeck granules in Langerhans cells", "definition": "Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy. [HPO:probinson, PMID:15816828]"} {"concept_id": "C4703587", "aliases": [], "types": ["T033"], "canonical_name": "Early chronotype", "definition": "A tendency towards rising very early in the morning and going to bed early in the evening. []"} {"concept_id": "C4703588", "aliases": [], "types": ["T033"], "canonical_name": "Late chronotype", "definition": "A tendency towards rising very late in the morning and going to bed late at night. []"} {"concept_id": "C4703589", "aliases": [], "types": ["T033"], "canonical_name": "Late sleep onset"} {"concept_id": "C4703590", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal hepcidin level", "definition": "Any deviation from the normal concentration of hepcidin in the blood circulation. [HPO:probinson, PMID:16450011]"} {"concept_id": "C4703591", "aliases": [], "types": ["T033"], "canonical_name": "Decreased hepcidin level", "definition": "An abnormally reduced concentration of hepcidin in the blood circulation. [HPO:probinson, PMID:16450011]"} {"concept_id": "C4703592", "aliases": [], "types": ["T033"], "canonical_name": "Elevated hepcidin level", "definition": "An abnormally increased concentration of hepcidin in the blood circulation. [HPO:probinson, PMID:16450011]"} {"concept_id": "C4703593", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal eyelid physiology", "definition": "Any functional abnormality of the eyelid. []"} {"concept_id": "C4703594", "aliases": [], "types": ["T047"], "canonical_name": "Decreased tear drainage", "definition": "A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct. [UManchester:psergouniotis]"} {"concept_id": "C4703595", "aliases": [], "types": ["T033"], "canonical_name": "Increased proinsulin:insulin ratio", "definition": "An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation. [RGD:gthayman]"} {"concept_id": "C4703596", "aliases": ["Abnormal CSF glucose level"], "types": ["T033"], "canonical_name": "Abnormal CSF glucose concentration", "definition": "A deviation from normal concentration of glucose content in the cerebrospinal fluid. []"} {"concept_id": "C4703598", "aliases": ["Abnormal LDL-C concentration", "Abnormal LDLc concentration", "Abnormal LDL-C level"], "types": ["T033"], "canonical_name": "Abnormal LDL cholesterol concentration", "definition": "Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation. [HPO:probinson]"} {"concept_id": "C4703599", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal chylomicron concentration", "definition": "Any deviation from the normal circulating concentration of chylomicrons. []"} {"concept_id": "C4703600", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal HDL cholesterol concentration", "definition": "Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood. []"} {"concept_id": "C4703601", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal VLDL cholesterol concentration", "definition": "Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood. []"} {"concept_id": "C4703602", "aliases": ["Abnormal factor V activity"], "types": ["T046"], "canonical_name": "Abnormal coagulation factor V activity", "definition": "Any deviation from the activity of coagulation factor V. []"} {"concept_id": "C4703605", "aliases": ["Abnormal serum selenium concentration"], "types": ["T033"], "canonical_name": "Abnormal circulating selenium concentration", "definition": "Any deviation from the normal circulating concentration of selenium. [HPO:probinson, PMID:26045617, PMID:29494512]"} {"concept_id": "C4703606", "aliases": ["Abnormal CH50"], "types": ["T046"], "canonical_name": "Abnormal total hemolytic complement activity", "definition": "Any deviation from the normal total hemolytic complement activity in the circulation. []"} {"concept_id": "C4703607", "aliases": [], "types": ["T046"], "canonical_name": "Increased total hemolytic complement activity", "definition": "An abnormally elevated total hemolytic complement activity in the circulation. [HPO:probinson]"} {"concept_id": "C4703608", "aliases": [], "types": ["T033"], "canonical_name": "Decreased total hemolytic complement activity", "definition": "An abnormally reduced total hemolytic complement activity in the circulation. [HPO:probinson]"} {"concept_id": "C4703609", "aliases": ["AMA-M2 positive"], "types": ["T034"], "canonical_name": "Anti-mitochondrial M2 antibody positivity", "definition": "The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum. [LMU:mgriese, PMID:30579751]"} {"concept_id": "C4703610", "aliases": [], "types": ["T033"], "canonical_name": "Focal hyperintensity of cerebral white matter on MRI", "definition": "An abnormal area of increased brightness (hyperintensity) that is limited to one particular area. []"} {"concept_id": "C4703611", "aliases": [], "types": ["T033"], "canonical_name": "Multifocal hyperintensity of cerebral white matter on MRI", "definition": "An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas. []"} {"concept_id": "C4703612", "aliases": [], "types": ["T033"], "canonical_name": "Confluent hyperintensity of cerebral white matter on MRI", "definition": "Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together. [PMID:25636970]"} {"concept_id": "C4703613", "aliases": [], "types": ["T033"], "canonical_name": "Focal hypointensity of cerebral white matter on MRI"} {"concept_id": "C4703614", "aliases": [], "types": ["T033"], "canonical_name": "Multifocal hypointensity of cerebral white matter on MRI"} {"concept_id": "C4703615", "aliases": [], "types": ["T033"], "canonical_name": "Confluent hypointensity of cerebral white matter on MRI"} {"concept_id": "C4703616", "aliases": ["Decreased level of 1,5-AG in serum", "Decreased level of 1,5-anhydroglucitol in serum", "Decreased level of 1,5-anhydro-D-glucitol in serum"], "types": ["T033"], "canonical_name": "Decreased level of 1,5 anhydroglucitol in serum", "definition": "A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues. [PMID:16731998, PMID:17659063, PMID:9357814]"} {"concept_id": "C4703617", "aliases": [], "types": ["T033"], "canonical_name": "Increased level of 3-hydroxy-3-methylglutaric acid in urine", "definition": "An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine. [PMID:15505778, PMID:23705938]"} {"concept_id": "C4703618", "aliases": [], "types": ["T033"], "canonical_name": "Increased level of allantoin in serum", "definition": "An increase in the level of allantoin in the serum. [PMID:18636793]"} {"concept_id": "C4703619", "aliases": ["Increased level of gamma-aminobutyric acid in serum", "Increased circulating GABA concentration", "Increased level of GABA in serum"], "types": ["T033"], "canonical_name": "Elevated circulating gamma-aminobutyric acid concentration", "definition": "An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation. [PMID:1485027, PMID:25485164]"} {"concept_id": "C4703620", "aliases": ["Decreased level of gamma-aminobutyric acid in serum", "Decreased circulating GABA concentration"], "types": ["T033"], "canonical_name": "Decreased circulating GABA concentration", "definition": "A decrease in the level of GABA in the serum. [PMID:1485027]"} {"concept_id": "C4703621", "aliases": [], "types": ["T033"], "canonical_name": "Decreased level of erythritol in urine", "definition": "A decrease in the level of erythritol in the urine. [PMID:14988808]"} {"concept_id": "C4703622", "aliases": ["Decreased level of erythritol in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased level of erythritol in CSF", "definition": "A decrease in the level of erythritol in the cerebrospinal fluid. [PMID:14988808]"} {"concept_id": "C4703623", "aliases": [], "types": ["T033"], "canonical_name": "Increased level of D-threitol in plasma", "definition": "An increase in the level of D-threitol in the plasma. [PMID:14988808]"} {"concept_id": "C4703624", "aliases": ["Increased level of D-threitol in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased level of D-threitol in CSF", "definition": "An increase in the level of D-threitol in the cerebrospinal fluid. [PMID:14988808]"} {"concept_id": "C4703625", "aliases": [], "types": ["T033"], "canonical_name": "Increased level of D-threitol in urine", "definition": "An increase in the level of D-threitol in the urine. [PMID:14988808]"} {"concept_id": "C4703626", "aliases": [], "types": ["T033"], "canonical_name": "Decreased level of D-mannose in urine", "definition": "A decrease in the level of D-mannose in the urine. [PMID:2576290, PMID:29099052]"} {"concept_id": "C4703627", "aliases": [], "types": ["T033"], "canonical_name": "Increased level of galactitol in plasma", "definition": "An increase in the level of galactitol in the plasma. [PMID:11092512, PMID:7671965]"} {"concept_id": "C4703628", "aliases": [], "types": ["T033"], "canonical_name": "Increased level of galactitol in urine", "definition": "An increase in the level of galactitol in the urine. [PMID:11092512, PMID:7671965]"} {"concept_id": "C4703629", "aliases": ["Increased level of galactonate in RBCs", "Increased level of galactonate in erythrocytes"], "types": ["T033"], "canonical_name": "Increased level of galactonate in red blood cells", "definition": "An increase in the level of galactonate in the red blood cells. [PMID:14680973]"} {"concept_id": "C4703630", "aliases": ["Increased level of galactitol in erythrocytes"], "types": ["T033"], "canonical_name": "Increased level of galactitol in red blood cells", "definition": "An increase in the level of galactitol in the red blood cells. [PMID:14680973]"} {"concept_id": "C4703631", "aliases": ["Increased level of N-benzoylglycine in blood"], "types": ["T033"], "canonical_name": "Increased level of hippuric acid in blood", "definition": "An increase in the level of hippuric acid in the blood. [PMID:22626821]"} {"concept_id": "C4703632", "aliases": ["Increased level of N-benzoylglycine in urine"], "types": ["T033"], "canonical_name": "Increased level of hippuric acid in urine", "definition": "An increase in the level of hippuric acid in the urine. [PMID:19551947, PMID:22626821]"} {"concept_id": "C4703633", "aliases": [], "types": ["T033"], "canonical_name": "Increased level of L-fucose in urine", "definition": "An increase in the level of L-fucose in the urine. [PMID:2311216]"} {"concept_id": "C4703634", "aliases": [], "types": ["T033"], "canonical_name": "Increased level of L-glutamic acid in blood", "definition": "An increase in the level of L-glutamic acid in the blood. [PMID:7623444]"} {"concept_id": "C4703635", "aliases": ["Increased level of propane-1,2-diol in blood"], "types": ["T033"], "canonical_name": "Increased level of propylene glycol in blood", "definition": "An increase in the level of propylene glycol in the blood. [PMID:3426740]"} {"concept_id": "C4703636", "aliases": [], "types": ["T033"], "canonical_name": "Increased level of ribitol in urine", "definition": "An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose. [PMID:14988808, PMID:26054712]"} {"concept_id": "C4703637", "aliases": ["Increased level of ribitol in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased level of ribitol in CSF", "definition": "An increase in the level of ribitol in the cerebral spinal fluid. [PMID:14988808]"} {"concept_id": "C4703638", "aliases": [], "types": ["T033"], "canonical_name": "Increased level of ribose in urine", "definition": "An increase in the level of ribose in the urine. [PMID:14988808]"} {"concept_id": "C4703639", "aliases": ["Increased level of ribose in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased level of ribose in CSF", "definition": "An increase in the level of ribose in the cerebrospinal fluid. [PMID:14988808]"} {"concept_id": "C4703640", "aliases": [], "types": ["T033"], "canonical_name": "Increased level of xylitol in urine", "definition": "An increase in the level of xylitol in the urine. [PMID:14988808]"} {"concept_id": "C4703641", "aliases": ["Increased level of xylitol in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased level of xylitol in CSF", "definition": "An increase in the level of xylitol in the cerebrospinal fluid. [PMID:14988808]"} {"concept_id": "C4703642", "aliases": ["Elevated urine 5-oxoproline", "Increased level of 5-oxo-L-proline in urine"], "types": ["T033"], "canonical_name": "Increased level of L-pyroglutamic acid in urine", "definition": "An increase in the level of L-pyroglutamic acid in the urine. [PMID:10094443, PMID:4557757]"} {"concept_id": "C4703643", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal biotinidase level", "definition": "An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. [PMID:29359854]"} {"concept_id": "C4703644", "aliases": [], "types": ["T033"], "canonical_name": "Decreased biotinidase level", "definition": "A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. [PMID:29359854]"} {"concept_id": "C4703645", "aliases": [], "types": ["T033"], "canonical_name": "Increased biotinidase level", "definition": "An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. [PMID:29359854]"} {"concept_id": "C4703646", "aliases": ["Eosinophilic esophagitis", "Eosinophilic infiltration of the esophagus"], "types": ["T033"], "definition": "Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. [PMID:27158535]", "canonical_name": "Eosinophilic infiltration of the oesophagus"} {"concept_id": "C4703647", "aliases": ["Eosinophilic micro-abscess formation in the oesophagus", "Eosinophilic microabscess formation in the oesophagus", "Eosinophilic micro-abscess formation in the esophagus"], "types": ["T047"], "canonical_name": "Eosinophilic microabscess formation in the esophagus", "definition": "The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques. [PMID:27158535]"} {"concept_id": "C4703648", "aliases": ["Increased level of pyrotartaric acid in urine"], "types": ["T033"], "canonical_name": "Increased level of methylsuccinic acid in urine", "definition": "An increase in the level of methylsuccinic acid in the urine. [PMID:16828325, PMID:19343532, PMID:3571488, PMID:6616873]"} {"concept_id": "C4703649", "aliases": ["Increased level of tetradecanoic acid in serum"], "types": ["T033"], "canonical_name": "Increased level of myristic acid in serum", "definition": "An increase in the level of myristic acid in the serum. [PMID:22024767]"} {"concept_id": "C4703650", "aliases": ["Increased level of NANA in urine", "Increased level of Neu5Ac in urine"], "types": ["T033"], "canonical_name": "Increased level of N-acetylneuraminic acid in urine", "definition": "An increase in the level of N-acetylneuraminic acid in the urine. [PMID:7398077]"} {"concept_id": "C4703651", "aliases": ["Increased level of NANA in fibroblasts", "Increased level of Neu5Ac in fibroblasts", "Increased level of sialic acid in fibroblasts"], "types": ["T033"], "canonical_name": "Increased level of N-acetylneuraminic acid in fibroblasts", "definition": "An increase in the level of N-acetylneuraminic acid in cultured fibroblasts. [PMID:11992753]"} {"concept_id": "C4703652", "aliases": ["Increased level of O-phosphoethanolamine in urine"], "types": ["T033"], "canonical_name": "Increased urine O-phosphoethanolamine level", "definition": "An increase in the level of O-phosphoethanolamine in the urine. [PMID:23093139]"} {"concept_id": "C4703653", "aliases": [], "types": ["T049"], "canonical_name": "Defective interstrand cross-link repair", "definition": "A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. [GO:0036297, PMID:16464006, PMID:22064477]"} {"concept_id": "C4703654", "aliases": ["Abnormality of the chest musculature"], "types": ["T190"], "canonical_name": "Abnormal morphology of the chest musculature", "definition": "Any abnormality of the chest muscles. []"} {"concept_id": "C4703655", "aliases": [], "types": ["T190"], "canonical_name": "Muscle issues in the chest"} {"concept_id": "C4703656", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the back musculature", "definition": "Any abnormality of the back muscles. []"} {"concept_id": "C4703657", "aliases": ["Muscle issues in the shoulder", "Abnormality of the shoulder musculature"], "types": ["T190"], "canonical_name": "Abnormal morphology of the shoulder musculature", "definition": "Any abnormality of the shoulder muscles. []"} {"concept_id": "C4703658", "aliases": [], "types": ["T033"], "canonical_name": "Increased cotinine level", "definition": "Increased concentration of cotinine in urine. []"} {"concept_id": "C4703659", "aliases": [], "types": ["T033"], "canonical_name": "Blood xenobiotic", "definition": "The presence of a xenobiotic in blood. []"} {"concept_id": "C4703660", "aliases": ["Increased troponin I level in blood"], "types": ["T033"], "canonical_name": "Increased circulating troponin I concentration", "definition": "An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. []"} {"concept_id": "C4703661", "aliases": ["Increased troponin T level in blood"], "types": ["T033"], "canonical_name": "Increased circulating troponin T concentration", "definition": "An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. [PMID:15452153]"} {"concept_id": "C4703662", "aliases": ["Abnormal G6PD level"], "types": ["T033"], "canonical_name": "Abnormal glucose-6-phosphate dehydrogenase level", "definition": "An anomaly in the level of glucose-6-phosphate dehydrogenase. []"} {"concept_id": "C4703663", "aliases": ["Abnormal G6PD level in blood"], "types": ["T033"], "canonical_name": "Abnormal glucose-6-phosphate dehydrogenase level in blood", "definition": "An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood. [PMID:24787449]"} {"concept_id": "C4703664", "aliases": ["Increased G6PD level in blood"], "types": ["T033"], "canonical_name": "Increased glucose-6-phosphate dehydrogenase level in blood", "definition": "An increase in the level of glucose-6-phosphate dehydrogenase in the blood. []"} {"concept_id": "C4703665", "aliases": ["Decreased G6PD level in blood"], "types": ["T033"], "canonical_name": "Decreased glucose-6-phosphate dehydrogenase level in blood", "definition": "A decrease in the level of glucose-6-phosphate dehydrogenase in the blood. [PMID:24787449]"} {"concept_id": "C4703666", "aliases": ["Abnormal glucose-6-phosphate dehydrogenase level in DBS", "Abnormal G6PD level in dried blood spot"], "types": ["T033"], "canonical_name": "Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot", "definition": "An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. [PMID:28479150]"} {"concept_id": "C4703667", "aliases": ["Increased G6PD level in dried blood spot", "Increased glucose-6-phosphate dehydrogenase level in DBS"], "types": ["T033"], "canonical_name": "Increased glucose-6-phosphate dehydrogenase level in dried blood spot", "definition": "An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. [PMID:28479150]"} {"concept_id": "C4703668", "aliases": ["Decreased G6PD level in dried blood spot", "Decreased glucose-6-phosphate dehydrogenase level in DBS"], "types": ["T033"], "canonical_name": "Decreased glucose-6-phosphate dehydrogenase level in dried blood spot", "definition": "A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. [PMID:28479150]"} {"concept_id": "C4703669", "aliases": ["Abnormal G6PD level in leukocytes"], "types": ["T033"], "canonical_name": "Abnormal glucose-6-phosphate dehydrogenase level in leukocytes", "definition": "An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes. [https://doi.org/10.1016/B978-0-12-383834-6.00086-0]"} {"concept_id": "C4703670", "aliases": ["Abnormal G6PD level in red blood cells", "Abnormal G6PD level in RBCs"], "types": ["T033"], "canonical_name": "Abnormal glucose-6-phosphate dehydrogenase level in red blood cells", "definition": "An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells. [PMID:18942156]"} {"concept_id": "C4703671", "aliases": ["Abnormal G6PD level in tissue"], "types": ["T033"], "canonical_name": "Abnormal glucose-6-phosphate dehydrogenase level in tissue", "definition": "An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue. []"} {"concept_id": "C4703672", "aliases": ["Increased G6PD level in tissue"], "types": ["T033"], "canonical_name": "Increased glucose-6-phosphate dehydrogenase level in tissue", "definition": "An increase in the level of glucose-6-phosphate dehydrogenase in tissue. []"} {"concept_id": "C4703673", "aliases": ["Decreased G6PD level in tissue"], "types": ["T033"], "canonical_name": "Decreased glucose-6-phosphate dehydrogenase level in tissue", "definition": "A decrease in the level of glucose-6-phosphate dehydrogenase in tissue. []"} {"concept_id": "C4703674", "aliases": ["Decreased G6PD level in RBCs", "Decreased G6PD level in red blood cells"], "types": ["T033"], "canonical_name": "Decreased glucose-6-phosphate dehydrogenase level in red blood cells", "definition": "A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells. [PMID:18942156]"} {"concept_id": "C4703675", "aliases": ["Increased G6PD level in red blood cells", "Increased G6PD level in RBCs"], "types": ["T033"], "canonical_name": "Increased glucose-6-phosphate dehydrogenase level in red blood cells", "definition": "An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells. []"} {"concept_id": "C4703676", "aliases": ["Decreased G6PD level in leukocytes"], "types": ["T033"], "canonical_name": "Decreased glucose-6-phosphate dehydrogenase level in leukocytes", "definition": "A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes. [https://doi.org/10.1016/B978-0-12-383834-6.00086-0]"} {"concept_id": "C4703677", "aliases": ["Increased G6PD level in leukocytes"], "types": ["T033"], "canonical_name": "Increased glucose-6-phosphate dehydrogenase level in leukocytes", "definition": "An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes. []"} {"concept_id": "C4703678", "aliases": ["Abnormal UDP-glucose 4-epimerase level"], "types": ["T033"], "canonical_name": "Abnormal uridine diphosphate glucose-4-epimerase level", "definition": "An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose. []"} {"concept_id": "C4703679", "aliases": ["Abnormal UDP-glucose 4-epimerase activity level in plasma"], "types": ["T033"], "canonical_name": "Abnormal uridine diphosphate glucose-4-epimerase level in plasma", "definition": "An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. []"} {"concept_id": "C4703680", "aliases": ["Increased UDP-glucose 4-epimerase level in plasma"], "types": ["T033"], "canonical_name": "Increased uridine diphosphate glucose-4-epimerase level in plasma", "definition": "An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. []"} {"concept_id": "C4703681", "aliases": ["Decreased UDP-glucose 4-epimerase level in plasma"], "types": ["T033"], "canonical_name": "Decreased uridine diphosphate glucose-4-epimerase level in plasma", "definition": "A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. []"} {"concept_id": "C4703682", "aliases": ["Abnormal UDP-glucose 4-epimerase level in RBCs", "Abnormal UDP-glucose 4-epimerase level in red blood cells"], "types": ["T033"], "canonical_name": "Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells", "definition": "An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. []"} {"concept_id": "C4703683", "aliases": ["Increased UDP-glucose 4-epimerase level in red blood cells", "Increased UDP-glucose 4-epimerase level in RBCs"], "types": ["T033"], "canonical_name": "Increased uridine diphosphate glucose-4-epimerase level in red blood cells", "definition": "An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. []"} {"concept_id": "C4703684", "aliases": ["Decreased UDP-glucose 4-epimerase level in red blood cells", "Decreased UDP-glucose 4-epimerase level in RBCs"], "types": ["T033"], "canonical_name": "Decreased uridine diphosphate glucose-4-epimerase level in red blood cells", "definition": "A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. []"} {"concept_id": "C4703685", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal natural killer subset distribution", "definition": "Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells. []"} {"concept_id": "C4703686", "aliases": [], "types": ["T033"], "canonical_name": "Nasolacrimal sac obstruction", "definition": "Blockage of the nasolacrimal sac. [PMID:17203310]"} {"concept_id": "C4703687", "aliases": [], "types": ["T190"], "canonical_name": "Nasolacrimal sac granuloma", "definition": "A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac. [PMID:13434546]"} {"concept_id": "C4703688", "aliases": [], "types": ["T191"], "canonical_name": "Nasolacrimal sac papilloma", "definition": "Benign tumor of the nasolacrimal sac. [PMID:4352147]"} {"concept_id": "C4703689", "aliases": [], "types": ["T191"], "canonical_name": "Nasolacrimal sac epithelial papillary carcinoma", "definition": "The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac. [PMID:16253035]"} {"concept_id": "C4703690", "aliases": ["Cicatricial conjunctivitis", "Conjunctival cicatricial conjunctivitis", "Cicatrizating conjunctivitis"], "types": ["T033"], "canonical_name": "Conjunctival cicatrization", "definition": "An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703691", "aliases": [], "types": ["T033"], "canonical_name": "Collier's sign", "definition": "A unilateral or bilateral eyelid retraction due to midbrain lesions. [PMID:17323781]"} {"concept_id": "C4703692", "aliases": [], "types": ["T191"], "canonical_name": "Nasolacrimal sac lymphoma", "definition": "A type of lymphoma that involves the nasolacrimal sac. [ORCID:0000-0003-0986-4123, PMID:9392338]"} {"concept_id": "C4703693", "aliases": [], "types": ["T033"], "canonical_name": "Delayed canalization of nasolacrimal duct", "definition": "A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period. [PMID:11222337]"} {"concept_id": "C4703694", "aliases": ["ROP stage 4a"], "types": ["T047"], "canonical_name": "Retinopathy of prematurity stage 4a", "definition": "A detachment that involves the peripheral retina that does not extend into the macula. [ISBN:978-3-319-52190-9]"} {"concept_id": "C4703695", "aliases": ["ROP 4b"], "types": ["T047"], "canonical_name": "Retinopathy of prematurity stage 4b", "definition": "A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well. [ISBN:978-3-319-52190-9]"} {"concept_id": "C4703696", "aliases": ["ROP stage 5a"], "types": ["T047"], "canonical_name": "Retinopathy of prematurity stage 5a", "definition": "An open funnel detachment of the retina with generally traction in all four quadrants. [ISBN:978-3-319-52190-9]"} {"concept_id": "C4703697", "aliases": ["ROP stage 5b"], "types": ["T047"], "canonical_name": "Retinopathy of prematurity stage 5b", "definition": "A closed funnel detachment of the retina with generally traction in all four quadrants. [ISBN:978-3-319-52190-9]"} {"concept_id": "C4703698", "aliases": ["ROP zone 1"], "types": ["T047"], "canonical_name": "Retinopathy of prematurity zone I", "definition": "Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. [ISBN:978-3-319-52190-9, PMID:16009843]"} {"concept_id": "C4703699", "aliases": ["ROP zone II"], "types": ["T047"], "canonical_name": "Retinopathy of prematurity zone II", "definition": "Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata. [ISBN:978-3-319-52190-9, PMID:16009843]"} {"concept_id": "C4703700", "aliases": ["ROP zone III"], "types": ["T047"], "canonical_name": "Retinopathy of prematurity zone III", "definition": "Retinopathy which is a residual crescent of retina anterior to zone II. [ISBN:978-3-319-52190-9, PMID:16009843]"} {"concept_id": "C4703701", "aliases": ["ROP plus"], "types": ["T047"], "canonical_name": "Retinopathy of prematurity plus", "definition": "Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye. [PMID:16009843]"} {"concept_id": "C4703702", "aliases": ["ROP pre-plus"], "types": ["T047"], "canonical_name": "Retinopathy of prematurity pre-plus", "definition": "As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal. [PMID:16009843]"} {"concept_id": "C4703703", "aliases": ["ROP threshold"], "types": ["T047"], "canonical_name": "Retinopathy of prematurity threshold", "definition": "A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease. [ISBN:978-3-319-52190-9]"} {"concept_id": "C4703704", "aliases": ["ROP prethreshold"], "types": ["T047"], "canonical_name": "Retinopathy of prematurity prethreshold", "definition": "High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both. [ISBN:978-3-319-52190-9]"} {"concept_id": "C4703705", "aliases": [], "types": ["T047"], "canonical_name": "Latent myopia", "definition": "The difference between total and manifest myopia. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703706", "aliases": [], "types": ["T047"], "canonical_name": "Conjunctival dermolipoma", "definition": "A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703707", "aliases": [], "types": ["T033"], "canonical_name": "Absolute eccentric fixation", "definition": "Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703708", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal ocular alignment", "definition": "Any deviation from the normal ocular alignment. [ORCID:0000-0001-7941-2961]"} {"concept_id": "C4703710", "aliases": [], "types": ["T047"], "canonical_name": "Alternating hypotropia", "definition": "A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703711", "aliases": [], "types": ["T047"], "canonical_name": "Alternating hypophoria", "definition": "A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703712", "aliases": ["Temporal gray pigmentary crescent", "Optic nerve grey crescent", "Temporal grey pigmentary crescent"], "types": ["T033"], "canonical_name": "Optic nerve gray crescent", "definition": "Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. [PMID:24862768]"} {"concept_id": "C4703713", "aliases": [], "types": ["T033"], "canonical_name": "Foveal depigmentation", "definition": "Loss of pigment in the fovea centralis. [PMID:24023426]"} {"concept_id": "C4703714", "aliases": ["Peri-ocular capillary hemangioma"], "types": ["T191"], "canonical_name": "Periocular capillary hemangioma", "definition": "A capillary hemangioma surrounding the eyeball but within the orbit. [PMID:20616917]"} {"concept_id": "C4703715", "aliases": [], "types": ["T191"], "canonical_name": "Orbital rhabdomyosarcoma", "definition": "A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit. []"} {"concept_id": "C4703716", "aliases": [], "types": ["T033"], "canonical_name": "Stool xenobiotic", "definition": "Presence of xenobiotic in stool. []"} {"concept_id": "C4703717", "aliases": [], "types": ["T033"], "canonical_name": "Meconium xenobiotic", "definition": "Presence of a xenobiotic in meconium. []"} {"concept_id": "C4703718", "aliases": [], "types": ["T033"], "canonical_name": "Hair xenobiotic", "definition": "Presence of xenobiotic in hair. []"} {"concept_id": "C4703719", "aliases": [], "types": ["T033"], "canonical_name": "Plasma/serum xenobiotic", "definition": "Presence of a xenobiotic in plasma and/or serum. []"} {"concept_id": "C4703720", "aliases": [], "types": ["T033"], "canonical_name": "Gastric fluid xenobiotic", "definition": "Presence of a xenobiotic in gastric fluid. []"} {"concept_id": "C4703721", "aliases": [], "types": ["T033"], "canonical_name": "Compensatory head posture", "definition": "A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem. []"} {"concept_id": "C4703722", "aliases": [], "types": ["T047"], "canonical_name": "Superior rectus muscle underaction", "definition": "Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. [ORCID:0000-0003-0986-4123]"} {"concept_id": "C4703723", "aliases": [], "types": ["T190"], "canonical_name": "Muscle issues in the back"} {"concept_id": "C4703724", "aliases": [], "types": ["T184"], "canonical_name": "Clasp-knife sign", "definition": "Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife. [HPO:probinson]"} {"concept_id": "C4703725", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal myeloid cell morphology", "definition": "Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. []"} {"concept_id": "C4703726", "aliases": [], "types": ["T019"], "canonical_name": "Anomalous origin of the right common carotid artery from the aorta", "definition": "The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta. [PMID:12601459]"} {"concept_id": "C4707565", "aliases": [], "types": ["T019"], "definition": "A rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.", "canonical_name": "Bilateral polymicrogyria"} {"concept_id": "C4721400", "aliases": [], "types": ["T047"], "definition": "Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs. []", "canonical_name": "Heterophoria"} {"concept_id": "C4721411", "aliases": ["Osteolytic defects of bones", "Breakdown of bone", "Osteolysis"], "types": ["T046"], "definition": "Dissolution of bone that particularly involves the removal or loss of calcium.", "canonical_name": "Increased bone resorption"} {"concept_id": "C4721453", "aliases": ["Peripheral nervous system disease"], "types": ["T047"], "definition": "Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves.", "canonical_name": "Peripheral nerve disease"} {"concept_id": "C4721509", "aliases": [], "types": ["T047"], "definition": "Interstitial pneumonia characterized by the presence of fibrosis in the interstitial lung tissue. The pathologic diagnosis is based on the identification of fibrotic lesions at different stages of development within a lung biopsy specimen. Typically there are foci of normal lung parenchyma alternating with interstitial inflammation and honeycombing. The term usual interstitial pneumonia sometimes is used interchangeably with idiopathic interstitial fibrosis. The two terms are not entirely synonymous. Usual interstitial pneumonia may be associated with other conditions such as connective tissue disorders and asbestosis. The diagnosis of idiopathic interstitial fibrosis requires the exclusion of such conditions. Patients with usual interstitial pneumonia present with progressive dyspnea, cough, and restrictive pulmonary function abnormalities. The prognosis is usually poor.", "canonical_name": "Usual interstitial pneumonia"} {"concept_id": "C4721610", "aliases": ["Ovarian carcinoma"], "types": ["T191"], "definition": "A malignant neoplasm that originates in cells on the surface EPITHELIUM of the ovary and is the most common form of ovarian cancer. There are five histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Mutations in BRCA1, OPCML, PRKN, PIK3CA, AKT1, CTNNB1, RRAS2, and CDH1 genes are associated with this cancer.", "canonical_name": "Ovarian epithelial cancer"} {"concept_id": "C4721788", "aliases": ["Cleft ribs", "Split ribs"], "types": ["T190"], "definition": "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. [HPO:probinson]", "canonical_name": "Bifid ribs"} {"concept_id": "C4721806", "aliases": ["Basal cell epithelioma", "Basal cell carcinoma", "Basal cell carcinomas"], "types": ["T191"], "definition": "A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)", "canonical_name": "Basalioma"} {"concept_id": "C4722330", "aliases": ["Thyroid hormone resistance", "End-organ unresponsiveness to thyroid hormone", "Elevated serum levels of free thyroid hormone with nonsuppressed TSH", "Resistance to thyroid hormone", "Impaired sensitivity to thyroid hormone"], "types": ["T047"], "definition": "Decreased response to thyroid hormones in peripheral tissues and in the pituitary gland.", "canonical_name": "Thyroid hormone receptor defect"} {"concept_id": "C4722524", "aliases": ["Blood vessel tumour"], "types": ["T191"], "definition": "A neoplasm arising from arteries or veins.", "canonical_name": "Blood vessel tumor"} {"concept_id": "C4731924", "aliases": [], "types": ["T047"], "definition": "Seizures precipitated by exogenous stimuli. [ORCID:0000-0002-1735-8178, PMID:11422340]", "canonical_name": "Reflex seizure"} {"concept_id": "C4732729", "aliases": [], "types": ["T033"], "canonical_name": "Flat light-brown mark on skin"} {"concept_id": "C4732730", "aliases": [], "types": ["T047"], "canonical_name": "Blood spots"} {"concept_id": "C4732731", "aliases": [], "types": ["T047"], "canonical_name": "Increased hair growth on body"} {"concept_id": "C4732733", "aliases": [], "types": ["T033"], "canonical_name": "Spasticity and rigidity of muscles"} {"concept_id": "C4732734", "aliases": [], "types": ["T019"], "canonical_name": "Abnormal formation of the hip"} {"concept_id": "C4732735", "aliases": [], "types": ["T045"], "canonical_name": "Familial predisposition"} {"concept_id": "C4732736", "aliases": [], "types": ["T190"], "canonical_name": "Foot and ankle bend up toward shin of leg"} {"concept_id": "C4732737", "aliases": ["Abnormal connection between trachea and oesophagus"], "types": ["T190"], "canonical_name": "Abnormal connection between trachea and esophagus"} {"concept_id": "C4732738", "aliases": [], "types": ["T191"], "canonical_name": "Abnormal tissue mass"} {"concept_id": "C4732739", "aliases": [], "types": ["T033"], "canonical_name": "Retarded ossification"} {"concept_id": "C4732740", "aliases": [], "types": ["T033"], "canonical_name": "Acral ulceration", "definition": "A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. [PMID:20862203]"} {"concept_id": "C4732741", "aliases": [], "types": ["T033"], "canonical_name": "Inability to straighten knee"} {"concept_id": "C4732742", "aliases": ["Hole in centre of heart"], "types": ["T019"], "canonical_name": "Hole in center of heart"} {"concept_id": "C4732743", "aliases": [], "types": ["T047"], "canonical_name": "Multiple birthmarks"} {"concept_id": "C4732744", "aliases": [], "types": ["T047"], "canonical_name": "Multiple flat light-brown marks on skin"} {"concept_id": "C4732745", "aliases": [], "types": ["T019"], "canonical_name": "Bilateral absent ovaries"} {"concept_id": "C4732746", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal morphology of dorsum of nose"} {"concept_id": "C4732747", "aliases": [], "types": ["T190"], "canonical_name": "Delayed maturation of the end part of the vertebral bone"} {"concept_id": "C4732748", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal erythrocyte physiology", "definition": "Any functional abnormality of erythrocytes (red-blood cells). []"} {"concept_id": "C4732749", "aliases": ["Abnormal Hb concentration", "Abnormal haemoglobin concentration"], "types": ["T033"], "canonical_name": "Abnormal hemoglobin concentration", "definition": "Any deviation from the normal concentration of hemoglobin in the blood. []"} {"concept_id": "C4732750", "aliases": ["Decreased haemoglobin concentration", "Decreased Hb concentration"], "types": ["T033"], "canonical_name": "Decreased hemoglobin concentration", "definition": "An abnormal reduction below normal hemoglobin concentration in the circulation. []"} {"concept_id": "C4732751", "aliases": ["Increased haemoglobin concentration", "Increased Hb concentration"], "types": ["T033"], "canonical_name": "Increased hemoglobin concentration", "definition": "An abnormal elevation above normal hemoglobin concentration in the circulation. []"} {"concept_id": "C4732755", "aliases": ["Severe peripheral visual field loss"], "types": ["T033"], "canonical_name": "Severe constriction of peripheral visual field", "definition": "Peripheral visual field constriction with 10-19 degrees central field preserved. []"} {"concept_id": "C4732756", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal cranial nerve physiology", "definition": "A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. []"} {"concept_id": "C4732757", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal fifth cranial nerve physiology"} {"concept_id": "C4732758", "aliases": ["Calf myalgia", "Calf muscle pain"], "types": ["T184"], "canonical_name": "Gastrocnemius myalgia", "definition": "Pain of the gastrocnemius muscle. [PMID:29491286]"} {"concept_id": "C4732759", "aliases": [], "types": ["T033"], "canonical_name": "Rope sign", "definition": "The presence of linear erythematous palpable cords, often on the lateral trunk. [PMID:16935918, PMID:26131871]"} {"concept_id": "C4732760", "aliases": [], "types": ["T033"], "canonical_name": "True ependymal rosette", "definition": "A type of rosette in which a halo of cells surrounds an empty lumen. [PMID:16551982]"} {"concept_id": "C4732761", "aliases": [], "types": ["T033"], "canonical_name": "Perivascular pseudorosette", "definition": "A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel. [PMID:16551982]"} {"concept_id": "C4732762", "aliases": ["Pineocytomatous rosette"], "types": ["T033"], "canonical_name": "Neurocytic rosette", "definition": "A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular. [PMID:16551982]"} {"concept_id": "C4732763", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal descending aorta morphology", "definition": "A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen. []"} {"concept_id": "C4732764", "aliases": ["Tachylogia"], "types": ["T048"], "canonical_name": "Tachylalia", "definition": "Extreme rapidity of speech. []"} {"concept_id": "C4732765", "aliases": ["Abnormal conus medullaris morphology"], "types": ["T190"], "canonical_name": "Abnormal conus terminalis morphology", "definition": "Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae). []"} {"concept_id": "C4732766", "aliases": [], "types": ["T190"], "canonical_name": "Conus terminalis arteriovenous malformation"} {"concept_id": "C4732767", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal portal venous system morphology", "definition": "Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins. [PMID:11796904]"} {"concept_id": "C4732768", "aliases": ["Elevated N,N-dimethylglycine level"], "types": ["T033"], "canonical_name": "Elevated circulating N,N-dimethylglycine concentration", "definition": "An increased concentration of N,N-dimethylglycine in the circulation. []"} {"concept_id": "C4732769", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary N,N-dimethylglycine level", "definition": "An increased concentration of N,N-dimethylglycine in the urine. []"} {"concept_id": "C4732770", "aliases": [], "types": ["T033"], "canonical_name": "Jerky movements of the tongue"} {"concept_id": "C4732771", "aliases": [], "types": ["T033"], "canonical_name": "Snowball lesion of corpus callosum", "definition": "Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome. [PMID:24663235, PMID:26991403]"} {"concept_id": "C4732772", "aliases": ["Recurrent bacterial URI"], "types": ["T047"], "canonical_name": "Recurrent bacterial upper respiratory tract infections", "definition": "An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). [PMID:26424818]"} {"concept_id": "C4732773", "aliases": ["Wernicke-Mann gait"], "types": ["T033"], "canonical_name": "Spastic hemiparetic gait", "definition": "Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster. [PMID:27770207]"} {"concept_id": "C4732774", "aliases": [], "types": ["T033"], "canonical_name": "Spastic paraparetic gait", "definition": "A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait. [PMID:27770207]"} {"concept_id": "C4732775", "aliases": [], "types": ["T184"], "canonical_name": "Leg dystonia", "definition": "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs. []"} {"concept_id": "C4732776", "aliases": [], "types": ["T033"], "canonical_name": "Arm dystonia", "definition": "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. []"} {"concept_id": "C4732777", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal serum anion gap", "definition": "Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration. [PMID:17699401]"} {"concept_id": "C4732778", "aliases": [], "types": ["T033"], "canonical_name": "Elevated serum anion gap", "definition": "An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). [PMID:17699401]"} {"concept_id": "C4732779", "aliases": [], "types": ["T033"], "canonical_name": "Decreased serum anion gap", "definition": "An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). [PMID:17699401]"} {"concept_id": "C4732780", "aliases": ["Reduced BUN"], "types": ["T033"], "canonical_name": "Reduced blood urea nitrogen", "definition": "An abnormally low concentration of urea nitrogen in the blood. []"} {"concept_id": "C4732781", "aliases": [], "types": ["T190"], "canonical_name": "Subaortic ventricular septal bulge", "definition": "A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy. [ORCID:0000-0001-5835-5515, PMID:25129067, PMID:9203495]"} {"concept_id": "C4732782", "aliases": [], "types": ["T033"], "canonical_name": "Increased vertical cup-to-disc ratio", "definition": "An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. [UManchester:psergouniotis]"} {"concept_id": "C4732783", "aliases": [], "types": ["T033"], "canonical_name": "Increased vertical cup-to-disc ratio - 0.6", "definition": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). [UManchester:psergouniotis]"} {"concept_id": "C4732784", "aliases": [], "types": ["T033"], "canonical_name": "Increased vertical cup-to-disc ratio - 0.7", "definition": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). [UManchester:psergouniotis]"} {"concept_id": "C4732785", "aliases": [], "types": ["T033"], "canonical_name": "Increased vertical cup-to-disc ratio - 0.8", "definition": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). [UManchester:psergouniotis]"} {"concept_id": "C4732786", "aliases": [], "types": ["T033"], "canonical_name": "Increased vertical cup-to-disc ratio - 0.9", "definition": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). [UManchester:psergouniotis]"} {"concept_id": "C4732787", "aliases": [], "types": ["T033"], "canonical_name": "Increased vertical cup-to-disc ratio - 1.0", "definition": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). [UManchester:psergouniotis]"} {"concept_id": "C4732788", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urine carbohydrate level", "definition": "Any deviation from the normal concentration of a carbohydrate in the urine. []"} {"concept_id": "C4732789", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urine glycolate", "definition": "An increased concentration of glycolate in the urine. [PMID:2031609]"} {"concept_id": "C4732790", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal putamen morphology", "definition": "Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum. []"} {"concept_id": "C4732791", "aliases": ["Abnormal chest radiograph finding (lung)"], "types": ["T033"], "canonical_name": "Abnormal pulmonary thoracic imaging finding", "definition": "This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density. []"} {"concept_id": "C4732792", "aliases": [], "types": ["T033"], "canonical_name": "Esophageal exudate", "definition": "An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa. [PMID:22919257]"} {"concept_id": "C4732793", "aliases": [], "types": ["T033"], "canonical_name": "Polyminimyoclonus", "definition": "Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant. [PMID:21339907]"} {"concept_id": "C4732794", "aliases": [], "types": ["T184"], "canonical_name": "Perioral spasm", "definition": "A sudden involuntary contraction of the musculature surrounding the mouth. []"} {"concept_id": "C4732795", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary excretion of galactosyl hydroxylysine", "definition": "An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption. [PMID:10222355]"} {"concept_id": "C4732796", "aliases": [], "types": ["T047"], "definition": "A hypertrophic cardiomyopathy characterized by apical hypertrophy, typically LEFT VENTRICULAR HYPERTROPHY (described as \"ace of spades\" sign), and deep T-wave inversions in EKG. Clinical symptoms include minor symptoms such as CHEST PAIN; DYSPNEA; and SYNCOPE to more complex symptoms such as ATRIAL FIBRILLATION; VENTRICULAR FIBRILLATION; MYOCARDIAL INFARCTION and CONGESTIVE HEART FAILURE. A transient left ventricular apical hypertrophy is sometimes associated with TAKOTSUBO CARDIOMYOPATHY.", "canonical_name": "Apical hypertrophic cardiomyopathy"} {"concept_id": "C4732797", "aliases": [], "types": ["T184"], "canonical_name": "Squawks", "definition": "Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles. [PMID:26229557]"} {"concept_id": "C4732798", "aliases": [], "types": ["T033"], "canonical_name": "Early inspiratory crackles", "definition": "Crackles that appear at the beginning of inspiration and end before mid-inspiration. [PMID:26229557]"} {"concept_id": "C4732799", "aliases": [], "types": ["T033"], "canonical_name": "Late inspiratory crackles", "definition": "Crackles that appear any time after the beginning of inspiration and last till the end of inspiration. [PMID:26229557]"} {"concept_id": "C4732800", "aliases": ["Infantile (constant) exotropia"], "types": ["T047"], "canonical_name": "Infantile constant exotropia", "definition": "Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities. [UManchester:psergouniotis]"} {"concept_id": "C4732801", "aliases": ["Basic (constant) exotropia"], "types": ["T047"], "canonical_name": "Basic constant exotropia", "definition": "Constant exotropia for near and distance, presenting after 6 months of age. [UManchester:psergouniotis]"} {"concept_id": "C4732802", "aliases": [], "types": ["T033"], "canonical_name": "Hypermetric horizontal saccades", "definition": "Overshoot of horizontal (sideways) saccadic eye movements. []"} {"concept_id": "C4732803", "aliases": [], "types": ["T033"], "canonical_name": "Dysmetric vertical saccades", "definition": "Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction. [UManchester:psergouniotis]"} {"concept_id": "C4732804", "aliases": [], "types": ["T033"], "canonical_name": "Dysmetric horizontal saccades", "definition": "Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction. [UManchester:psergouniotis]"} {"concept_id": "C4732805", "aliases": ["Eosinophilic infiltration of skeletal muscle"], "types": ["T033"], "canonical_name": "Muscle eosinophilia", "definition": "Eosinophil infiltration of skeletal muscle. [HPO:probinson, PMID:24424174, PMID:24803842]"} {"concept_id": "C4732806", "aliases": [], "types": ["T033"], "canonical_name": "Eosinophilic liver infiltration", "definition": "Cellular infiltration of the liver parenchyma with a preponderance of eosinophils. [HPO:probinson, PMID:20457690, PMID:7835024]"} {"concept_id": "C4732807", "aliases": ["Eosinophilic cholecystitis"], "types": ["T190"], "canonical_name": "Eosinophilic gallbladder infiltration", "definition": "Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination. [PMID:27872806]"} {"concept_id": "C4732808", "aliases": [], "types": ["T033"], "canonical_name": "Reduced serum alpha-1-antitrypsin", "definition": "A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. [PMID:24507836]"} {"concept_id": "C4732809", "aliases": [], "types": ["T033"], "canonical_name": "Retinal dots", "definition": "Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. [UManchester:psergouniotis]"} {"concept_id": "C4732810", "aliases": [], "types": ["T033"], "canonical_name": "Macular dots", "definition": "Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. [UManchester:psergouniotis]"} {"concept_id": "C4732811", "aliases": [], "types": ["T033"], "canonical_name": "Floppy eyelid", "definition": "Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis. [PMID:26139650, UManchester:psergouniotis]"} {"concept_id": "C4732812", "aliases": [], "types": ["T033"], "canonical_name": "Lateral canthal tendon laxity", "definition": "Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. [UManchester:psergouniotis]"} {"concept_id": "C4732813", "aliases": [], "types": ["T033"], "canonical_name": "Medial canthal tendon laxity", "definition": "Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. [UManchester:psergouniotis]"} {"concept_id": "C4732814", "aliases": [], "types": ["T033"], "canonical_name": "Horizontal eyelid laxity", "definition": "Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present. [UManchester:psergouniotis]"} {"concept_id": "C4732815", "aliases": [], "types": ["T033"], "canonical_name": "Vertical eyelid laxity", "definition": "Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present. [UManchester:psergouniotis]"} {"concept_id": "C4732816", "aliases": ["Abnormal contrast sensitivity"], "types": ["T033"], "canonical_name": "Reduced contrast sensitivity", "definition": "An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target. [PMID:12809156, UManchester:psergouniotis]"} {"concept_id": "C4732817", "aliases": ["Mild visual loss", "Mild reduction in visual acuity", "Mild vision loss"], "types": ["T033"], "canonical_name": "Mildly reduced visual acuity", "definition": "Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation). []"} {"concept_id": "C4732818", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of the ocular adnexa", "definition": "An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. []"} {"concept_id": "C4732819", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ocular adnexa physiology", "definition": "A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. []"} {"concept_id": "C4732820", "aliases": [], "types": ["T019"], "canonical_name": "Hypoplastic carotid canal", "definition": "Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse. []"} {"concept_id": "C4732821", "aliases": [], "types": ["T019"], "definition": "A type of focal cortical dysplasia that is characterized by abnormal cortical layering. [COST:neuromig, PMID:21219302]", "canonical_name": "Focal cortical dysplasia type I"} {"concept_id": "C4732822", "aliases": [], "types": ["T047"], "definition": "A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination. [COST:neuromig, PMID:21219302]", "canonical_name": "Focal cortical dysplasia type Ia"} {"concept_id": "C4732823", "aliases": [], "types": ["T047"], "definition": "A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination. [COST:neuromig, PMID:21219302]", "canonical_name": "Focal cortical dysplasia type Ib"} {"concept_id": "C4732824", "aliases": [], "types": ["T047"], "canonical_name": "Focal cortical dysplasia type Ic", "definition": "A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination. [COST:neuromig, PMID:21219302]"} {"concept_id": "C4732825", "aliases": [], "types": ["T019"], "canonical_name": "Focal cortical dysplasia type III", "definition": "A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe. [COST:neuromig, PMID:21219302]"} {"concept_id": "C4732826", "aliases": [], "types": ["T047"], "canonical_name": "Focal cortical dysplasia type IIIa", "definition": "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). [COST:neuromig, PMID:21219302]"} {"concept_id": "C4732827", "aliases": [], "types": ["T047"], "canonical_name": "Focal cortical dysplasia type IIIb", "definition": "A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor. [COST:neuromig, PMID:21219302]"} {"concept_id": "C4732828", "aliases": [], "types": ["T047"], "canonical_name": "Focal cortical dysplasia type IIIc", "definition": "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis). [COST:neuromig, PMID:21219302]"} {"concept_id": "C4732829", "aliases": [], "types": ["T047"], "canonical_name": "Focal cortical dysplasia type IIId", "definition": "A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections. [COST:neuromig, PMID:21219302]"} {"concept_id": "C4732830", "aliases": [], "types": ["T019"], "canonical_name": "Mild malformation of cortical development", "definition": "A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter. [COST:neuromig, PMID:21219302]"} {"concept_id": "C4732832", "aliases": ["Abnormal serum HCO3 concentration"], "types": ["T033"], "canonical_name": "Abnormal serum bicarbonate concentration", "definition": "Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation. []"} {"concept_id": "C4732833", "aliases": ["Decreased serum HCO3 concentration"], "types": ["T033"], "canonical_name": "Decreased serum bicarbonate concentration", "definition": "An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation. []"} {"concept_id": "C4732834", "aliases": ["Elevated serum HCO3 concentration"], "types": ["T033"], "canonical_name": "Elevated serum bicarbonate concentration", "definition": "An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation. []"} {"concept_id": "C4732835", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary mucus", "definition": "An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis. [PMID:8126784]"} {"concept_id": "C4732836", "aliases": ["Anti-thyroid globulin antibody positivity", "TgAbs"], "types": ["T033"], "canonical_name": "Anti-thyroglobulin antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. [ORCID:0000-0002-3387-1836, PMID:21196203, PMID:33144894, PMID:33999913, PMID:34634575]"} {"concept_id": "C4732837", "aliases": [], "types": ["T190"], "canonical_name": "Leptomeningeal enhancement", "definition": "Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis. [PMID:17374867]"} {"concept_id": "C4732838", "aliases": ["Elevated CSF urate concentration", "Increased cerebrospinal fluid urate"], "types": ["T033"], "canonical_name": "Increased CSF urate concentration", "definition": "Increased concentration of urate in the cerebrospinal fluid. []"} {"concept_id": "C4732839", "aliases": [], "types": ["T033"], "canonical_name": "Positive meconium barbiturate test", "definition": "Detection of barbiturate metabolites such as phenobarbital in meconium. []"} {"concept_id": "C4732840", "aliases": [], "types": ["T033"], "canonical_name": "Positive hair barbiturate test", "definition": "Detection of barbiturate metabolites such as phenobarbital in the hair. []"} {"concept_id": "C4732841", "aliases": [], "types": ["T033"], "canonical_name": "Positive stool barbiturate test", "definition": "Detection of barbiturate metabolites such as phenobarbital in the stool. []"} {"concept_id": "C4732842", "aliases": [], "types": ["T033"], "canonical_name": "Positive gastric fluid barbiturate test", "definition": "Detection of barbiturate metabolites such as phenobarbital in the gastric fluid. []"} {"concept_id": "C4732843", "aliases": ["Abnormal circulating N-nicotinoylglycine level", "Abnormal circulating nicotinurate level"], "types": ["T033"], "canonical_name": "Abnormal circulating nicotinurate concentration", "definition": "Any deviation from the normal concentration of nicotinurate in the blood. []"} {"concept_id": "C4732844", "aliases": ["Increased circulating N-nicotinoylglycine level"], "types": ["T033"], "canonical_name": "Increased circulating nicotinurate level", "definition": "An increased amount of nicotinurate in the blood. []"} {"concept_id": "C4732845", "aliases": [], "types": ["T033"], "canonical_name": "Positive methadone plasma/serum test", "definition": "Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum. []"} {"concept_id": "C4732846", "aliases": [], "types": ["T033"], "canonical_name": "Positive plasma/serum cotinine test", "definition": "Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum. [PMID:10027825]"} {"concept_id": "C4732847", "aliases": ["Folate deficiency in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Folate deficiency in CSF", "definition": "A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid. [PMID:15581159]"} {"concept_id": "C4732848", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal cord blood measurement", "definition": "An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level. [PMID:7926229]"} {"concept_id": "C4732849", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal blood gas level in cord blood"} {"concept_id": "C4732850", "aliases": ["High cord blood oxygen level"], "types": ["T033"], "canonical_name": "Hyperoxemia in cord blood", "definition": "An abnormally high level of blood oxygen in the cord blood. []"} {"concept_id": "C4732851", "aliases": ["Low cord blood oxygen level"], "types": ["T033"], "canonical_name": "Hypoxemia in cord blood", "definition": "An abnormally low level of blood oxygen in the cord blood. []"} {"concept_id": "C4732852", "aliases": ["High cord blood carbon dioxide level"], "types": ["T033"], "canonical_name": "Hypercapnia in cord blood", "definition": "Abnormally elevated blood carbon dioxide (CO2) level in the cord blood. []"} {"concept_id": "C4732853", "aliases": ["Low cord blood carbon dioxide level"], "types": ["T033"], "canonical_name": "Hypocapnia in cord blood", "definition": "Abnormally decreased blood carbon dioxide (CO2) level in the cord blood. []"} {"concept_id": "C4732854", "aliases": ["Abnormal serum methylfolate Level"], "types": ["T033"], "canonical_name": "Abnormal blood 5-methyltetrahydrofolate level", "definition": "An abnormal concentration of 5-methyltetrahydrofolate in the blood. []"} {"concept_id": "C4732855", "aliases": ["Reduced serum methylfolate Level"], "types": ["T033"], "canonical_name": "Reduced blood 5-methyltetrahydrofolate level", "definition": "A decreased concentration of 5-methyltetrahydrofolate in the blood. []"} {"concept_id": "C4732856", "aliases": ["Disorder of maxillary and mandibular dental arch relationship"], "types": ["T019"], "canonical_name": "Hypoplasia of maxilla relative to mandible", "definition": "Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw). [https://orcid.org/0000-0001-5889-4463, https://www.researchgate.net/publication/277918795_Nonsyndromic_oligodontia_A_rare_case_report]"} {"concept_id": "C4732857", "aliases": ["Disorder of mandibular and maxillary dental arch relationship"], "types": ["T019"], "canonical_name": "Hypoplasia of mandible relative to maxilla", "definition": "Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw). [https://orcid.org/0000-0001-5889-4463]"} {"concept_id": "C4732858", "aliases": [], "types": ["T033"], "canonical_name": "Increased anti-dairy protein IgE antibody level", "definition": "Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products. [PMID:26433529]"} {"concept_id": "C4732859", "aliases": [], "types": ["T033"], "canonical_name": "Increased anti-dairy IgE antibody level"} {"concept_id": "C4732860", "aliases": ["Increased level of anti-animal protein IgE antibody"], "types": ["T033"], "canonical_name": "Increased anti-animal protein IgE antibody level", "definition": "Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine. [PMID:8543754]"} {"concept_id": "C4732861", "aliases": ["Increased level of anti-seafood IgE antibody"], "types": ["T033"], "canonical_name": "Increased anti-seafood IgE antibody level", "definition": "Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone. [PMID:14719162]"} {"concept_id": "C4732862", "aliases": ["Increased level of anti-dust mite IgE antibody"], "types": ["T033"], "canonical_name": "Increased anti-dust mite IgE antibody level", "definition": "Increased level of IgE antibody against dust mites, such as house dust mites. [https://www.atsjournals.org/doi/abs/10.1164/arrd.1982.125.1.80]"} {"concept_id": "C4732863", "aliases": ["Increased level of anti-bacteria IgE antibody"], "types": ["T033"], "canonical_name": "Increased anti-bacteria IgE antibody level", "definition": "Increased level of IgE antibody against bacteria. []"} {"concept_id": "C4732864", "aliases": ["Increased level of anti-drug IgE antibody"], "types": ["T033"], "canonical_name": "Increased anti-drug IgE antibody level", "definition": "Increased level of IgE antibody against a drug or class of drugs, such as antibiotics. [PMID:7835691]"} {"concept_id": "C4732865", "aliases": [], "types": ["T033"], "canonical_name": "Increased anti-feather IgE antibody level", "definition": "Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers. [PMID:9534914]"} {"concept_id": "C4732866", "aliases": ["Increased level of anti-food allergen IgE antibody"], "types": ["T033"], "canonical_name": "Increased anti-food allergen IgE antibody level", "definition": "Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish. [PMID:23229594]"} {"concept_id": "C4732867", "aliases": ["Increased level of anti-plant based food allergen IgE antibody"], "types": ["T033"], "canonical_name": "Increased anti-plant based food allergen IgE antibody level", "definition": "Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits. [PMID:26549334]"} {"concept_id": "C4732868", "aliases": ["Increased level of anti-gluten IgE antibody"], "types": ["T033"], "canonical_name": "Increased anti-gluten IgE antibody level", "definition": "Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye. [PMID:25788950]"} {"concept_id": "C4732869", "aliases": [], "types": ["T033"], "canonical_name": "Increased anti-nut food product IgE antibody level", "definition": "Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds. [PMID:12915766, PMID:23229594]"} {"concept_id": "C4732870", "aliases": [], "types": ["T033"], "canonical_name": "Increased anti-egg IgE antibody level", "definition": "Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid. [PMID:11591198]"} {"concept_id": "C4732871", "aliases": ["Increased anti-fungal IgE antibody level", "Increased anti-fungus IgE antibody level"], "types": ["T033"], "canonical_name": "Increased anti-fungi IgE antibody level", "definition": "Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota. [PMID:12402012]"} {"concept_id": "C4732872", "aliases": [], "types": ["T033"], "canonical_name": "Increased anti-meat allergen IgE antibody level", "definition": "Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken. [PMID:30182427]"} {"concept_id": "C4732873", "aliases": [], "types": ["T033"], "canonical_name": "Increased anti-parasite IgE antibody level", "definition": "Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii. [https://doi.org/10.1007/s40475-015-0058-7]"} {"concept_id": "C4732874", "aliases": [], "types": ["T033"], "canonical_name": "Increased anti-insect IgE antibody level", "definition": "Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches. [PMID:21913205]"} {"concept_id": "C4732875", "aliases": [], "types": ["T033"], "canonical_name": "Increased anti-venom IgE antibody level", "definition": "Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets. [PMID:21913205]"} {"concept_id": "C4732876", "aliases": [], "types": ["T033"], "canonical_name": "Increased anti-plant product IgE antibody level", "definition": "Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen. []"} {"concept_id": "C4732877", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal morphology of frontal bone"} {"concept_id": "C4732878", "aliases": [], "types": ["T047"], "canonical_name": "Isolated diastolic hypotension", "definition": "A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg). [PMID:21947466]"} {"concept_id": "C4732879", "aliases": [], "types": ["T033"], "canonical_name": "Positive urine cocaine test", "definition": "Detection of cocaine or its major metabolite, benzoylecgonine, in urine. []"} {"concept_id": "C4732880", "aliases": [], "types": ["T033"], "canonical_name": "Positive urine barbiturate test", "definition": "Detection of barbiturate metabolites such as Phenobarbital in urine. [ORCID:0000-0001-7941-2961]"} {"concept_id": "C4732881", "aliases": ["Postive urine pot test", "Positive urine marijuana test"], "types": ["T033"], "canonical_name": "Positive urine cannabinoid test", "definition": "Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine. []"} {"concept_id": "C4732882", "aliases": [], "types": ["T033"], "canonical_name": "Positive urine benzodiazepines test", "definition": "Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine. []"} {"concept_id": "C4732883", "aliases": [], "types": ["T033"], "canonical_name": "Positive urine amphetamine test", "definition": "Detection of amphetamine or its metabolites in urine. []"} {"concept_id": "C4732884", "aliases": [], "types": ["T033"], "canonical_name": "Positive urine opioid test", "definition": "Detection of opioids or opioid metabolites in urine. []"} {"concept_id": "C4732885", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal stool urobilinogen concentration", "definition": "Abnormal concentration of urobilinogen present in the stool. [ORCID:0000-0001-7941-2961]"} {"concept_id": "C4732886", "aliases": [], "types": ["T033"], "canonical_name": "Increased stool urobilinogen concentration", "definition": "An increased amount of urobilinogen present in the stool. [ORCID:0000-0001-7941-2961]"} {"concept_id": "C4732887", "aliases": [], "types": ["T033"], "canonical_name": "Positive blood barbiturate test", "definition": "Detection of barbiturate metabolites such as Phenobarbital in blood. [ORCID:0000-0001-7941-2961]"} {"concept_id": "C4732888", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal CSF urate concentration", "definition": "Abnormal concentration of urate in the cerebrospinal fluid (CSF). [ORCID:0000-0001-7941-2961]"} {"concept_id": "C4732889", "aliases": ["Low blood valine concentration"], "types": ["T033"], "canonical_name": "Hypovalinemia", "definition": "A decreased amount of valine in the blood. [https://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732890", "aliases": ["Low blood tyrosine concentration", "Decreased tyrosine in blood"], "types": ["T033"], "canonical_name": "Hypotyrosinemia", "definition": "An decreased concentration of tyrosine in the blood. [https://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732891", "aliases": ["Decreased tryptophan in blood", "Low blood tryptophan concentration"], "types": ["T033"], "canonical_name": "Hypotryptophanemia", "definition": "A decreased amount of tryptophan in the blood. [https://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732892", "aliases": ["Decreased circulating threonine levels", "Decreased threonine blood levels", "Low blood threonine concentration"], "types": ["T033"], "canonical_name": "Hypothreoninemia", "definition": "A decreased amount of threonine in the blood. [https://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732893", "aliases": ["High blood serine levels", "Elevated circulating serine levels", "Increased serine blood concentration"], "types": ["T033"], "canonical_name": "Hyperserinemia", "definition": "An increased amount of serine in the blood. []"} {"concept_id": "C4732894", "aliases": ["Decreased blood proline levels", "Low blood proline concentration"], "types": ["T033"], "canonical_name": "Hypoprolinemia", "definition": "A decreased amount of proline in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732895", "aliases": ["Low level of hydroxyproline in the blood", "Decreased hydroxyproline in the blood"], "types": ["T033"], "canonical_name": "Decreased circulating hydroxyproline concentration", "definition": "A decreased amount of hydroxyproline in the blood. [PMID:4690509]"} {"concept_id": "C4732896", "aliases": ["Decreased blood phenylalanine", "Low blood phenylalanine"], "types": ["T033"], "canonical_name": "Hypophenylalaninemia", "definition": "A decreased amount of phenylalanine in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732897", "aliases": ["Low blood lysine levels", "Decreased blood lysine"], "types": ["T033"], "canonical_name": "Hypolysinemia", "definition": "A decreased amount of lysine in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732898", "aliases": ["Decreased blood concentration of leucine", "Low blood leucine levels"], "types": ["T033"], "canonical_name": "Hypoleucinemia", "definition": "Decreased amount of leucine in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732899", "aliases": ["Low blood isoleucine levels", "Decreased blood isoleucine concentration"], "types": ["T033"], "canonical_name": "Hypoisoleucinemia", "definition": "A decreased amount of isoleucine in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732900", "aliases": ["Low blood histidine levels", "Decreased blood histidine concentration"], "types": ["T033"], "canonical_name": "Hypohistidinemia", "definition": "A decreased amount of histidine in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732901", "aliases": ["Low blood glutamine level", "Decreased blood glutamine concentration"], "types": ["T033"], "canonical_name": "Hypoglutaminemia", "definition": "Decreased amount of glutamine in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732902", "aliases": ["Abnormality of glutamate metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating glutamate concentration", "definition": "Any deviation from the normal concentration of glutamate in the blood circulation. []"} {"concept_id": "C4732903", "aliases": ["Increased blood glutamate concentration", "High blood glutamate levels"], "types": ["T033"], "canonical_name": "Hyperglutamatemia", "definition": "An increased amount of glutamate in the blood. [PMID:22949847]"} {"concept_id": "C4732904", "aliases": ["Low blood glutamate levels", "Decreased blood glutamate concentrations"], "types": ["T033"], "canonical_name": "Hypoglutamatemia", "definition": "A decreased amount of glutamate in the blood. [PMID:22949847]"} {"concept_id": "C4732905", "aliases": ["Increased blood cystine concentraions", "High blood cystine levels"], "types": ["T033"], "canonical_name": "Hypercystinemia", "definition": "An increased amount of cystine in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732906", "aliases": ["Decreased blood cystine concentration", "Low blood cystine levels"], "types": ["T033"], "canonical_name": "Hypocystinemia", "definition": "A decreased amount of cystine in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732907", "aliases": ["Decreased blood alanine concentration", "Low blood alanine levels"], "types": ["T033"], "canonical_name": "Hypoalaninemia", "definition": "A decreased amount of alanine in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732908", "aliases": ["Abnormality of asparagine metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating asparagine concentration", "definition": "Any deviation from the normal concentration of asparagine in the blood circulation. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732909", "aliases": ["High blood asaparagine levels", "Increased blood asparagine concentration"], "types": ["T033"], "canonical_name": "Hyperasparaginemia", "definition": "An increased amount of asparagine in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732910", "aliases": ["Low blood asparagine levels", "Decreased blood asparagine concentration"], "types": ["T033"], "canonical_name": "Hypoasparaginemia", "definition": "A decreased amount of asparagine in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732912", "aliases": ["High blood aspartic acid levels", "Increased blood aspartic acid"], "types": ["T033"], "canonical_name": "Increased level of circulating aspartic acid", "definition": "An increased amount of aspartic acid in the blood. [PMID:7353275]"} {"concept_id": "C4732913", "aliases": ["Abnormality of carnosine metabolism"], "types": ["T033"], "canonical_name": "Abnormal circulating carnosine concentration", "definition": "Any deviation from the normal concentration of carnosine in the blood circulation. [ORCID:0000-0001-7941-2961, PMID:20017611]"} {"concept_id": "C4732914", "aliases": ["Increased blood carnosine concenrtation", "High blood carnosine levels"], "types": ["T033"], "canonical_name": "Increased level of carnosine in blood", "definition": "An increased amount of carnosine in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732915", "aliases": ["Low blood carnosine levels", "Decreased blood carnosine concentration"], "types": ["T033"], "canonical_name": "Decreased level of carnosine in blood", "definition": "A decreased amount of carnosine in bood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C4732916", "aliases": [], "types": ["T190"], "canonical_name": "Abnormality of carotid artery"} {"concept_id": "C4732917", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urine carboxylic acid level", "definition": "Any deviation from the normal concentration of a carboxylic acid in the urine. []"} {"concept_id": "C4732918", "aliases": [], "types": ["T033"], "canonical_name": "Higher than normal levels of lactate in blood"} {"concept_id": "C4732919", "aliases": [], "types": ["T047"], "canonical_name": "Eosinophilic hepatitis"} {"concept_id": "C4748648", "aliases": [], "types": ["T033"], "canonical_name": "Increased left ventricular end-diastolic volume", "definition": "Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole). []"} {"concept_id": "C4748951", "aliases": ["Right diaphragmatic hernia"], "types": ["T019"], "canonical_name": "Aplasia of the right hemidiaphragm", "definition": "Congenital absence of the right-sided diaphragm. []"} {"concept_id": "C4748952", "aliases": ["Hepatic pulmonary fusion"], "types": ["T033"], "canonical_name": "Hepatopulmonary fusion", "definition": "Fusion of the liver with the lung. [PMID:28196822]"} {"concept_id": "C4748998", "aliases": [], "types": ["T046"], "canonical_name": "Vaginal mucosal ulceration"} {"concept_id": "C4758639", "aliases": ["Milk allergy"], "types": ["T046"], "definition": "Hypersensitivity in form of an adverse immune reaction against cow milk protein. [HPO:sdoelken]", "canonical_name": "Cow milk allergy"} {"concept_id": "C4759655", "aliases": [], "types": ["T019"], "definition": "Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.", "canonical_name": "Cleft nose"} {"concept_id": "C4759656", "aliases": ["Anomaly of the testes", "Abnormality of the testis"], "types": ["T190"], "canonical_name": "Abnormal testis morphology", "definition": "An anomaly of the testicle (the male gonad). [HPO:probinson]"} {"concept_id": "C4759671", "aliases": ["Deviation of finger", "Atypical position of finger", "Deviated fingers"], "types": ["T190"], "definition": "Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges. [HPO:curators]", "canonical_name": "Finger pointing in a different direction than usual"} {"concept_id": "C4759673", "aliases": ["Epidermal detachment", "Skin sloughing", "Skin detachment"], "types": ["T033"], "definition": "Peeling or shedding of skin in sheets.", "canonical_name": "Detached skin"} {"concept_id": "C4759713", "aliases": [], "types": ["T019"], "canonical_name": "Deformity of the skull"} {"concept_id": "C4759767", "aliases": [], "types": ["T047"], "definition": "A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses.", "canonical_name": "Spondylometaphyseal dysplasia"} {"concept_id": "C4759823", "aliases": ["Unusual CNS infection"], "types": ["T047"], "definition": "A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection. []", "canonical_name": "Central nervous system infection"} {"concept_id": "C4759911", "aliases": ["Insect allergy"], "types": ["T047"], "definition": "Hypersensitivity in form of an adverse immune reaction against insects. []", "canonical_name": "Allergy to insects"} {"concept_id": "C4759912", "aliases": ["HbC haemoglobin", "HbC hemoglobin", "Hemoglobin C"], "types": ["T033"], "definition": "Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis. [PMID:15215497, PMID:20301551]", "canonical_name": "Haemoglobin C"} {"concept_id": "C4760653", "aliases": ["Mucoid extracellular matrix accumulation"], "types": ["T046"], "definition": "An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.). [PMID:27031798]", "canonical_name": "MEMA"} {"concept_id": "C4760706", "aliases": ["Increased circulating band form neutrophils", "Increased circulating band cell count"], "types": ["T033"], "definition": "An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2. [PMID:25887201]", "canonical_name": "Left shift"} {"concept_id": "C4760707", "aliases": ["Male urethral meatus stenosis", "Meatal stenosis"], "types": ["T047"], "definition": "An abnormal narrowing of the urethral opening (meatus) of the penis. [PMID:28537045]", "canonical_name": "Meatus stenosis"} {"concept_id": "C4760994", "aliases": ["Swelling around the eyes", "Periorbital fullness", "Puffy eyes", "Fullness around the eyes", "Periorbital puffiness", "Periorbital swelling"], "types": ["T033"], "definition": "Increase in periorbital soft tissue. [HPO:sdoelken]", "canonical_name": "Puffiness around eye"} {"concept_id": "C5139033", "aliases": [], "types": ["T047"], "canonical_name": "Red scaly skin caused by inflammatory skin disease"} {"concept_id": "C5139034", "aliases": [], "types": ["T046"], "canonical_name": "Impaired release of bile from liver"} {"concept_id": "C5139035", "aliases": ["Decreased lysosomal acid glucosylceramidase activity"], "types": ["T033"], "canonical_name": "Decreased beta-glucocerebrosidase level", "definition": "Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose. []"} {"concept_id": "C5139036", "aliases": [], "types": ["T033"], "canonical_name": "Ganglioside accumulation", "definition": "Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease). [HPO:probinson, PMID:21937853]"} {"concept_id": "C5139037", "aliases": ["Abnormal circulating purine level"], "types": ["T033"], "canonical_name": "Abnormal circulating purine concentration", "definition": "Any deviation from the normal concentration of a purine in the blood circulation. []"} {"concept_id": "C5139038", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating pyrimidine concentration", "definition": "Any deviation from the normal concentration of a pyrimidine in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139039", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating carboxylic acid concentration", "definition": "Any deviation from the normal concentration of a carboxylic acid in the blood circulation. [HPO:gcarletti]"} {"concept_id": "C5139040", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating leucine concentration", "definition": "Any deviation from the normal circulation of leucine in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139041", "aliases": [], "types": ["T033"], "canonical_name": "Skull soft on palpation"} {"concept_id": "C5139042", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating branched chain amino acid concentration", "definition": "Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139043", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating glycine concentration", "definition": "Any deviation from the normal concentration of glycine in the blood circulation. [HPO:gcarletti]"} {"concept_id": "C5139044", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating aspartate family amino acid concentration", "definition": "Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139045", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating glutamine family amino acid concentration", "definition": "Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139046", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating glutamine concentration", "definition": "Any deviation from the normal concentration of glutamine in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139047", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating proline concentration", "definition": "Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation. [HPO:gcarletti]"} {"concept_id": "C5139048", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating isoleucine concentration", "definition": "Any deviation from the normal concentration of isoleucine in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139049", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating tyrosine concentration", "definition": "Any deviation from the normal concentration of tyrosine in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139050", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating cysteine concentration", "definition": "An abnormality of a cysteine metabolic process. [HPO:probinson]"} {"concept_id": "C5139051", "aliases": [], "types": ["T033"], "canonical_name": "Hyperxanthinemia", "definition": "An increased level of xanthine in the blood circulation. [HPO:probinson, PMID:9153281]"} {"concept_id": "C5139052", "aliases": ["Abnormal circulating phytanic acid level"], "types": ["T033"], "canonical_name": "Abnormal circulating phytanic acid concentration", "definition": "Any deviation from the normal concentration of phytanic acid in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139053", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating carnitine concentration", "definition": "Any deviation from the normal concentration of carnitine in the blood circulation. [HPO:gcarletti]"} {"concept_id": "C5139054", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal phagocytosis", "definition": "An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation. [HPO:probinson, PMID:28691037]"} {"concept_id": "C5139055", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating dicarboxylic acid concentration", "definition": "Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139056", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating monocarboxylic acid cocentration", "definition": "Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation. [HPO:gcarletti]"} {"concept_id": "C5139057", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating polysaccharide concentration", "definition": "A deviation from the normal concentration of a polysaccharide in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139058", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating carbohydrate concentration", "definition": "A deviation from the normal concentration of a carbohydrate in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139059", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating unsaturated fatty acid concentration", "definition": "A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139060", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating prostaglandin circulation", "definition": "Any deviation from the normal concentration of a prostaglandin in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139061", "aliases": [], "types": ["T033"], "canonical_name": "Low levels of vitamin K", "definition": "A reduced concentration of vitamin K. []"} {"concept_id": "C5139062", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating citrulline concentration", "definition": "Any deviation from the normal concentration of citrulline in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139063", "aliases": ["Abnormal circulating esterified carnitine concentration"], "types": ["T033"], "canonical_name": "Abnormal circulating acetylcarnitine concentration", "definition": "Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. [HPO:probinson, PMID:18281923, PMID:23258903, PMID:6348429]"} {"concept_id": "C5139064", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating serine concentration", "definition": "Any deviation from the normal concentration of serine in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139065", "aliases": [], "types": ["T033"], "canonical_name": "Leucine crystalluria", "definition": "The presence of leuucine crystals in the urine. [PMID:8671802]"} {"concept_id": "C5139066", "aliases": [], "types": ["T033"], "canonical_name": "Carnitinuria", "definition": "An elevated level of carnitine in the urine. [PMID:11196742, UCDenver:tjcallahan]"} {"concept_id": "C5139067", "aliases": ["Increased urinary alanine"], "types": ["T033"], "canonical_name": "Alaninuria", "definition": "An increased level of alanine in the urine. [UCDenver:tjcallahan]"} {"concept_id": "C5139068", "aliases": [], "types": ["T033"], "canonical_name": "Beta-alaninuria", "definition": "An increased level of beta-alanine in the urine. []"} {"concept_id": "C5139069", "aliases": [], "types": ["T047"], "canonical_name": "Infection following live vaccination", "definition": "An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens. []"} {"concept_id": "C5139070", "aliases": [], "types": ["T047"], "canonical_name": "BCGitis", "definition": "Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. [PMID:24722620]"} {"concept_id": "C5139071", "aliases": ["Vaccine associated measles"], "types": ["T047"], "canonical_name": "Post-vaccination measles", "definition": "Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases. [PMID:29152266]"} {"concept_id": "C5139072", "aliases": [], "types": ["T047"], "canonical_name": "Post-vaccination polio", "definition": "Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise. [PMID:25285130]"} {"concept_id": "C5139073", "aliases": [], "types": ["T047"], "canonical_name": "Post-vaccination rotavirus infection", "definition": "Infection with live attenuated rotavirus vaccine following vaccination. [PMID:21477676]"} {"concept_id": "C5139074", "aliases": [], "types": ["T046"], "canonical_name": "Recurrent deep organ abscess formation", "definition": "Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ. []"} {"concept_id": "C5139075", "aliases": [], "types": ["T033"], "canonical_name": "Prolonged need of intravenous antibiotic therapy", "definition": "Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time. []"} {"concept_id": "C5139076", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent streptococcal infections", "definition": "Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections. []"} {"concept_id": "C5139077", "aliases": [], "types": ["T047"], "canonical_name": "Infection due to encapsulated bacteria", "definition": "An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines. [PMID:30515161]"} {"concept_id": "C5139078", "aliases": [], "types": ["T047"], "canonical_name": "Severe norovirus infection", "definition": "An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals. [PMID:25567225]"} {"concept_id": "C5139079", "aliases": [], "types": ["T047"], "canonical_name": "Unusual fungal infection", "definition": "An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent. []"} {"concept_id": "C5139080", "aliases": [], "types": ["T047"], "canonical_name": "Unusual protozoan infection", "definition": "An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent. []"} {"concept_id": "C5139081", "aliases": [], "types": ["T047"], "canonical_name": "Severe toxoplasmosis", "definition": "Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs). [PMID:25762774]"} {"concept_id": "C5139082", "aliases": [], "types": ["T047"], "canonical_name": "Unusual helminthic infection", "definition": "An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth). [PMID:18382743]"} {"concept_id": "C5139083", "aliases": [], "types": ["T047"], "canonical_name": "Unusual parasitic infection", "definition": "An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite. [PMID:16148530]"} {"concept_id": "C5139084", "aliases": ["Abnormal CD4+CD25+ Treg cell proportion"], "types": ["T033"], "canonical_name": "Abnormal CD4+CD25+ regulatory T cell proportion", "definition": "A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. [PMID:19751267]"} {"concept_id": "C5139085", "aliases": ["Elevated proportion of CD4+CD25+ regulatory T cells", "Increased proportion of CD4+CD25+ Treg cells"], "types": ["T033"], "canonical_name": "Increased proportion of CD4+CD25+ regulatory T cells", "definition": "An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. []"} {"concept_id": "C5139086", "aliases": ["Reduced proportion of CD4+CD25+ regulatory T cells", "Decreased proportion of CD4+CD25+ Treg cells"], "types": ["T033"], "canonical_name": "Decreased proportion of CD4+CD25+ regulatory T cells", "definition": "An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. []"} {"concept_id": "C5139087", "aliases": [], "types": ["T047"], "canonical_name": "Persistent human papillomavirus infection", "definition": "Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease. [PMID:24643184, PMID:26239127]"} {"concept_id": "C5139088", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal plasma cell count", "definition": "An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. []"} {"concept_id": "C5139089", "aliases": [], "types": ["T033"], "canonical_name": "Reduced plasma cell count", "definition": "An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. []"} {"concept_id": "C5139090", "aliases": [], "types": ["T033"], "canonical_name": "Elevated plasma cell count", "definition": "An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. []"} {"concept_id": "C5139091", "aliases": ["Abnormal proportion of central memory CD4+, alpha-beta T cells"], "types": ["T033"], "canonical_name": "Abnormal proportion of CD4+ central memory cells", "definition": "An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype. []"} {"concept_id": "C5139094", "aliases": ["Abnormal proportion of CD4-positive effector memory cells", "Abnormal proportion of effector memory CD4-positive, alpha-beta T cells"], "types": ["T033"], "canonical_name": "Abnormal proportion of CD4+ effector memory cells", "definition": "An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:22343568]"} {"concept_id": "C5139095", "aliases": ["Decreased proportion of effector memory CD4-positive, alpha-beta T cells", "Decreased proportion of CD4-positive effector memory T cells", "Decreased proportion of CD4+ effector memory T cells"], "types": ["T033"], "canonical_name": "Reduced proportion of CD4+ effector memory T cells", "definition": "An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:22343568]"} {"concept_id": "C5139096", "aliases": ["Increased proportion of CD4-positive effector memory T cells", "Increased proportion of CD4+ effector memory T cells", "Increased proportion of effector CD4-positive, alpha-beta T cells"], "types": ["T033"], "canonical_name": "Elevated proportion of CD4+ effector memory T cells", "definition": "An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype. []"} {"concept_id": "C5139097", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating oleate level", "definition": "An abnormally high concentration of oleic acid (oleate) in the blood circulation. [PMID:18772370, UCDenver:tjcallahan]"} {"concept_id": "C5139098", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating octadecanoate level", "definition": "An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid). []"} {"concept_id": "C5139099", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating myristoleate level", "definition": "An abnormally high concentration of myristoleate in the blood circulation. []"} {"concept_id": "C5139100", "aliases": [], "types": ["T047"], "canonical_name": "Alpha-aminobutyric aciduria", "definition": "Increased amount of alpha-aminobutyric acid in the urine. [UCDenver:tjcallahan]"} {"concept_id": "C5139101", "aliases": [], "types": ["T049"], "canonical_name": "Reduced reactive oxygen species production in neutrophils"} {"concept_id": "C5139102", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal ureter morphology", "definition": "A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. []"} {"concept_id": "C5139103", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal ureter physiology", "definition": "A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. []"} {"concept_id": "C5139104", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary N-butyrylglycine", "definition": "An increased level of N-butyrylglycine in the urine. [UCDenver:tjcallahan]"} {"concept_id": "C5139105", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary zinc level", "definition": "An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection. []"} {"concept_id": "C5139106", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urinary mineral level", "definition": "An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium. []"} {"concept_id": "C5139107", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating glycolate concentration", "definition": "An abnormally increased concentration of glycolate in the blood circulation. [OHSU:jpgourdine, PMID:2002628]"} {"concept_id": "C5139108", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating thromboxane concentration", "definition": "Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels. [HPO:probinson]"} {"concept_id": "C5139109", "aliases": [], "types": ["T033"], "canonical_name": "Reduced circulating leukotriene C4 concentration", "definition": "An abnormally decreased concentration of leukotriene C4 in the blood circulation. [PMID:9820300]"} {"concept_id": "C5139110", "aliases": ["Moderate peripheral visual field loss"], "types": ["T033"], "canonical_name": "Moderate constriction of peripheral visual field", "definition": "Peripheral visual field constriction with 20-49 degrees binocular visual field preserved. []"} {"concept_id": "C5139111", "aliases": [], "types": ["T019"], "canonical_name": "Aplasia of the fallopian tube", "definition": "Aplasia, that is failure to develop, of the fallopian tube. []"} {"concept_id": "C5139112", "aliases": [], "types": ["T190"], "canonical_name": "Splenopancreatic fusion", "definition": "Fusion of the pancreatic tail and spleen. [ORCID:0000-0001-5208-3432, PMID:18398855]"} {"concept_id": "C5139113", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal male urethral meatus morphology"} {"concept_id": "C5139114", "aliases": [], "types": ["T190"], "canonical_name": "Angel-shaped phalanx", "definition": "A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head). [PMID:8267010]"} {"concept_id": "C5139115", "aliases": [], "types": ["T047"], "canonical_name": "Intralamellar mucoid extracellular matrix accumulation", "definition": "A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units. [PMID:27031798]"} {"concept_id": "C5139116", "aliases": [], "types": ["T047"], "canonical_name": "Translamellar mucoid extracellular matrix accumulation", "definition": "A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees. [PMID:27031798]"} {"concept_id": "C5139117", "aliases": ["Aortic elastic fibre fragmentation"], "types": ["T046"], "canonical_name": "Aortic elastic fiber fragmentation", "definition": "Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers. [PMID:27031798]"} {"concept_id": "C5139118", "aliases": ["Aortic elastic fibre thinning"], "types": ["T046"], "canonical_name": "Aortic elastic fiber thinning", "definition": "A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers. [PMID:27031798]"} {"concept_id": "C5139119", "aliases": ["Aortic elastic fibre disorganisation"], "types": ["T046"], "canonical_name": "Aortic elastic fiber disorganization", "definition": "Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers. [PMID:27031798]"} {"concept_id": "C5139120", "aliases": [], "types": ["T046"], "canonical_name": "Aortic smooth muscle cell nuclei loss", "definition": "A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain. [PMID:27031798]"} {"concept_id": "C5139121", "aliases": [], "types": ["T046"], "canonical_name": "Aortic laminar medial collapse", "definition": "Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers. [PMID:27031798]"} {"concept_id": "C5139122", "aliases": ["Aortic smooth muscle cell disorganisation"], "types": ["T046"], "canonical_name": "Aortic smooth muscle cell disorganization", "definition": "Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells. [PMID:27031798]"} {"concept_id": "C5139123", "aliases": [], "types": ["T046"], "canonical_name": "Aortic medial fibrosis", "definition": "An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units). [PMID:27031798]"} {"concept_id": "C5139124", "aliases": [], "types": ["T046"], "canonical_name": "Intralamellar aortic medial fibrosis", "definition": "A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units. [PMID:27031798]"} {"concept_id": "C5139125", "aliases": [], "types": ["T046"], "canonical_name": "Translamellar aortic medial fibrosis", "definition": "A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units. [PMID:27031798]"} {"concept_id": "C5139126", "aliases": ["Increased serum surfactant protein level"], "types": ["T033"], "canonical_name": "Increased circulating surfactant protein level", "definition": "An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis. [PMID:28591049]"} {"concept_id": "C5139127", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal manganese concentration", "definition": "A deviation from the normal range of manganese in the blood circulation. []"} {"concept_id": "C5139128", "aliases": ["Increased blood manganese concentration"], "types": ["T033"], "canonical_name": "Hypermanganesemia", "definition": "An elevation above the normal concentration of manganese in the blood. [PMID:29382362]"} {"concept_id": "C5139129", "aliases": [], "types": ["T033"], "canonical_name": "Hypomanganesemia", "definition": "A reduction below the normal concentration of manganese in the blood. []"} {"concept_id": "C5139130", "aliases": [], "types": ["T033"], "canonical_name": "Perioral radial furrowing", "definition": "The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976). [PMID:27833976]"} {"concept_id": "C5139131", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal doll's eye reflex", "definition": "The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage. [PMID:7299406]"} {"concept_id": "C5139132", "aliases": [], "types": ["T047"], "canonical_name": "Unusual infection", "definition": "A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. [PMID:22052638]"} {"concept_id": "C5139133", "aliases": ["Saccadic oscillations"], "types": ["T033"], "canonical_name": "Saccadic oscillation", "definition": "An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade. [UManchester:psergouniotis]"} {"concept_id": "C5139134", "aliases": ["Mild reduction in contrast sensitivity"], "types": ["T033"], "canonical_name": "Mildly reduced contrast sensitivity", "definition": "A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss. [UManchester:psergouniotis]"} {"concept_id": "C5139135", "aliases": ["Moderate reduction in contrast sensitivity"], "types": ["T033"], "canonical_name": "Moderately reduced contrast sensitivity", "definition": "A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss. [UManchester:psergouniotis]"} {"concept_id": "C5139136", "aliases": [], "types": ["T033"], "canonical_name": "Severely reduced contrast sensitivity", "definition": "A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss. [UManchester:psergouniotis]"} {"concept_id": "C5139137", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal Vistech contrast sensitivity test", "definition": "An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test. [PMID:1911660]"} {"concept_id": "C5139138", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal Pelli Robson contrast sensitivity chart test", "definition": "An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast. [PMID:16723494, UManchester:psergouniotis]"} {"concept_id": "C5139139", "aliases": ["Semidominant mode of inheritance"], "types": ["T045"], "canonical_name": "Semidominant inheritance", "definition": "A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in the heterozygotes and homozygotes, with differing phenotype severity present dependent on the number of alleles affected. [ClinGen:courtneythaxton, ClinGen:erinriggs, ClinGen:jennygoldstein, ClinGen:jimmyzqhen, ClinGen:marinadistefano, ClinGen:mattwright, ClinGen:scottgoehringer, ClinGen:tristannelson]"} {"concept_id": "C5139140", "aliases": [], "types": ["T033"], "canonical_name": "Macrosquare-wave jerks", "definition": "Horizontal 10-40 degree excursions from fixation and back again. [ISBN:978-0198804550, UManchester:psergouniotis]"} {"concept_id": "C5139141", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal peripheral nervous system physiology", "definition": "Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. []"} {"concept_id": "C5139142", "aliases": [], "types": ["T033"], "canonical_name": "Very low visual acuity", "definition": "A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590). []"} {"concept_id": "C5139143", "aliases": [], "types": ["T033"], "canonical_name": "Ultra-low vision", "definition": "Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590). []"} {"concept_id": "C5139144", "aliases": ["Abnormal proportion of non-class-switched memory B cells"], "types": ["T033"], "canonical_name": "Abnormal proportion of unswitched memory B cells", "definition": "A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells. [PMID:28882820]"} {"concept_id": "C5139145", "aliases": ["Elevated proportion of unswitched memory B cells", "Increased proportion of non-class-switched memory B cells"], "types": ["T033"], "canonical_name": "Increased proportion of unswitched memory B cells", "definition": "An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells. []"} {"concept_id": "C5139146", "aliases": ["Decreased proportion of non-class-switched memory B cells", "Reduced proportion of unswitched memory B cells"], "types": ["T033"], "canonical_name": "Decreased proportion of unswitched memory B cells", "definition": "A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells. []"} {"concept_id": "C5139147", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal plasmablast proportion", "definition": "A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination. [PMID:22566959]"} {"concept_id": "C5139148", "aliases": [], "types": ["T033"], "canonical_name": "Increased proportion of plasmablasts", "definition": "An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells. []"} {"concept_id": "C5139149", "aliases": [], "types": ["T033"], "canonical_name": "Decreased proportion of plasmablasts", "definition": "A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells. []"} {"concept_id": "C5139150", "aliases": [], "types": ["T047"], "canonical_name": "Mycobacterium abscessus abscessus infection", "definition": "Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections. [PMID:26295364]"} {"concept_id": "C5139151", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating total IgG", "definition": "A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. [PMID:17910333]"} {"concept_id": "C5139152", "aliases": [], "types": ["T033"], "canonical_name": "Transient decreased circulating total IgG", "definition": "A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. []"} {"concept_id": "C5139153", "aliases": ["Chronic decreased total IgG in blood"], "types": ["T033"], "canonical_name": "Chronic decreased circulating total IgG", "definition": "A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. []"} {"concept_id": "C5139154", "aliases": ["Decreased IgG1 level in blood"], "types": ["T033"], "canonical_name": "Decreased circulating IgG1 level", "definition": "A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation. []"} {"concept_id": "C5139155", "aliases": ["Decreased IgG3 level in blood"], "types": ["T033"], "canonical_name": "Decreased circulating IgG3 level", "definition": "A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation. []"} {"concept_id": "C5139156", "aliases": ["Decreased IgG4 level in blood"], "types": ["T033"], "canonical_name": "Decreased circulating IgG4 level", "definition": "A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation. [PMID:26929632]"} {"concept_id": "C5139157", "aliases": ["Decreased natural antibody to blood group agents", "Partial absence of isohemagglutinins"], "types": ["T033"], "canonical_name": "Reduced isohemagglutinin level", "definition": "Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). [PMID:25309532]"} {"concept_id": "C5139158", "aliases": [], "types": ["T033"], "canonical_name": "Decreased specific antibody response to vaccination", "definition": "A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination. [PMID:26018535]"} {"concept_id": "C5139159", "aliases": ["Atrophy of sural nerve"], "types": ["T046"], "canonical_name": "Sural nerve atrophy", "definition": "Wasting of the sural nerve, a sensory nerve in the calf region of the leg. []"} {"concept_id": "C5139160", "aliases": [], "types": ["T184"], "canonical_name": "Paroxysmal rectal pain", "definition": "Excruciating burning pain in the rectal area that may be triggered by defecation. [PMID:29650526]"} {"concept_id": "C5139161", "aliases": [], "types": ["T047"], "canonical_name": "Episodic eosinophilia", "definition": "Recurrent episodes of marked eosinophilia that resolve spontaneously. [PMID:25527564]"} {"concept_id": "C5139162", "aliases": [], "types": ["T047"], "canonical_name": "Unusual infection by anatomical site", "definition": "An unusual infection classified by the affected body part. []"} {"concept_id": "C5139163", "aliases": [], "types": ["T047"], "canonical_name": "Unusual skin infection", "definition": "A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection. []"} {"concept_id": "C5139164", "aliases": [], "types": ["T033"], "canonical_name": "Increased blood folate concentration", "definition": "An elevated circulating concentration of folic acid, which is also known as vitamin B9. []"} {"concept_id": "C5139165", "aliases": ["Unusual GI infection"], "types": ["T046"], "canonical_name": "Unusual gastrointestinal infection"} {"concept_id": "C5139166", "aliases": ["C. difficile enteritis"], "types": ["T047"], "canonical_name": "Clostridium difficile enteritis", "definition": "An infection of the small intestine (enteritis) by clostridium difficile. []"} {"concept_id": "C5139167", "aliases": ["Unusual course of infection"], "types": ["T047"], "canonical_name": "Severe infection", "definition": "A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. []"} {"concept_id": "C5139168", "aliases": [], "types": ["T047"], "canonical_name": "Severe varicella zoster infection", "definition": "An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. [PMID:21748081, PMID:23248376]"} {"concept_id": "C5139169", "aliases": [], "types": ["T184"], "definition": "A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan. [PMID:26312141]", "canonical_name": "Air crescent sign"} {"concept_id": "C5139170", "aliases": [], "types": ["T184"], "definition": "This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign. [PMID:26312141]", "canonical_name": "Continuous diaphragm sign"} {"concept_id": "C5139171", "aliases": [], "types": ["T033"], "canonical_name": "Tree-in-bud pattern", "definition": "The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376). [PMID:18195376]"} {"concept_id": "C5139172", "aliases": [], "types": ["T033"], "canonical_name": "Signet ring sign", "definition": "This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging. [PMID:18195376]"} {"concept_id": "C5139173", "aliases": ["Apical pleural thickening", "Apical cap"], "types": ["T033"], "canonical_name": "Apical pulmonary opacity", "definition": "An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space. [PMID:18195376, PMID:1994409]"} {"concept_id": "C5139174", "aliases": [], "types": ["T033"], "canonical_name": "Parenchymal consolidation", "definition": "Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia). [PMID:18195376]"} {"concept_id": "C5139175", "aliases": ["Flaky paint skin appearance"], "types": ["T047"], "canonical_name": "Flaky paint dermatosis", "definition": "A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001). [PMID:1764353, PMID:24285001]"} {"concept_id": "C5139176", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating globulin level", "definition": "An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode. []"} {"concept_id": "C5139177", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating metabolite concentration", "definition": "An abnormal level of an analyte measured in the blood. []"} {"concept_id": "C5139178", "aliases": [], "types": ["T190"], "canonical_name": "Anomalous hepatic venous drainage into the left atrium", "definition": "An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium. [PMID:12556263, PMID:16122505, PMID:20552624]"} {"concept_id": "C5139179", "aliases": ["Abnormal proportion of CD4+CD29+ cells"], "types": ["T033"], "canonical_name": "Abnormal proportion of memory T cells", "definition": "An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response. [PMID:8450264]"} {"concept_id": "C5139180", "aliases": ["Decreased proportion of CD4+CD29+ cells"], "types": ["T033"], "canonical_name": "Decreased proportion of memory T cells", "definition": "An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood. [PMID:8450264]"} {"concept_id": "C5139181", "aliases": ["Increased proportion of CD4+CD29+ cells"], "types": ["T033"], "canonical_name": "Increased proportion of memory T cells", "definition": "An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood. []"} {"concept_id": "C5139182", "aliases": [], "types": ["T047"], "canonical_name": "Disseminated molluscum contagiosum", "definition": "The presense of molluscum contagiosum lesions across multiple areas of the body. [PMID:21894250]"} {"concept_id": "C5139183", "aliases": [], "types": ["T049"], "canonical_name": "Cellular hypersensitivity to mitomycin C", "definition": "An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. [ORCID:0000-0001-5208-3432, PMID:9650445]"} {"concept_id": "C5139184", "aliases": [], "types": ["T049"], "canonical_name": "Cellular hypersensitivity to diepoxybutane", "definition": "An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. [ORCID:0000-0001-5208-3432, PMID:14679584]"} {"concept_id": "C5139185", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal meniscus morphology", "definition": "Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement. [PMID:26488288]"} {"concept_id": "C5139186", "aliases": [], "types": ["T033"], "canonical_name": "Decreased low-density lipoprotein particle size", "definition": "An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation. [ORCID:0000-0001-5356-4174, PMID:10417486, PMID:9973300]"} {"concept_id": "C5139187", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal S wave", "definition": "Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart. []"} {"concept_id": "C5139188", "aliases": [], "types": ["T033"], "canonical_name": "Prominent S wave in lead I", "definition": "Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram. [PMID:27012403]"} {"concept_id": "C5139189", "aliases": [], "types": ["T033"], "canonical_name": "Deep S wave in lead V5", "definition": "Abnormal depth of the S wave in lead V5 of the electrocardiogram. [PMID:29279530]"} {"concept_id": "C5139190", "aliases": [], "types": ["T047"], "canonical_name": "Chronic active Epstein-Barr virus infection", "definition": "Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed. []"} {"concept_id": "C5139191", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating galectin-3 level", "definition": "An increased circulation of galectin-3 in the blood circulation. [PMID:24065222]"} {"concept_id": "C5139193", "aliases": ["Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine", "Increased urine NTx level"], "types": ["T033"], "canonical_name": "Increased urinary type 1 collagen N-terminal telopeptide level", "definition": "An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours. [PMID:30572827]"} {"concept_id": "C5139194", "aliases": ["Abnormal circulating free T3 concentration", "Abnormal circulating free triiodotyronine concentration"], "types": ["T033"], "canonical_name": "Abnormal circulating free T3 level", "definition": "A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3. []"} {"concept_id": "C5139195", "aliases": ["Decreased circulating free triiodothyronine"], "types": ["T033"], "canonical_name": "Decreased circulating free T3", "definition": "A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. []"} {"concept_id": "C5139196", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary epithelial cell count", "definition": "An increased number of epithelial cells per high-power field in urinanalysis. []"} {"concept_id": "C5139197", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary squamous epithelial cell count", "definition": "An increased number of squamous epithelial cells per high-power field in urinanalysis. [PMID:26782662]"} {"concept_id": "C5139198", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary renal tubular epithelial cell count", "definition": "An increased number of renal tubular epithelial cells per high-power field in urinanalysis. []"} {"concept_id": "C5139199", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary transitional epithelial cell count", "definition": "An increased number of transitional epithelial cells per high-power field in urinanalysis. []"} {"concept_id": "C5139200", "aliases": [], "types": ["T191"], "canonical_name": "Disseminated cutaneous warts", "definition": "Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities. [PMID:29730845]"} {"concept_id": "C5139201", "aliases": [], "types": ["T033"], "canonical_name": "Lymphocytic infiltration of the colorectal mucosa", "definition": "Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy. [PMID:9824342]"} {"concept_id": "C5139202", "aliases": [], "types": ["T046"], "canonical_name": "Indurated nodule", "definition": "A skin nodule that is unusually hard (indurated). [PMID:16252032, PMID:23006954]"} {"concept_id": "C5139203", "aliases": ["Reduced proportion of CD4-positive cells", "Decreased proportion of CD4-positive, alpha-beta T cells", "Decreased proportion of CD4+ cells"], "types": ["T033"], "canonical_name": "Decreased proportion of CD4-positive T cells", "definition": "A reduction in the proportion of CD4-positive T cells relative to the total number of T cells. []"} {"concept_id": "C5139204", "aliases": ["Elevated proportion of CD4-positive T cells", "Increased proportion of CD4+ T cells", "Increased proportion of CD4-positive, alpha-beta T cells"], "types": ["T033"], "canonical_name": "Increased proportion of CD4-positive T cells", "definition": "An elevation in the proportion of CD4-positive T cells relative to the total number of T cells. []"} {"concept_id": "C5139205", "aliases": [], "types": ["T047"], "canonical_name": "Interface hepatitis", "definition": "Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma. []"} {"concept_id": "C5139206", "aliases": [], "types": ["T033"], "canonical_name": "Periportal emperipolesis", "definition": "The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area. [PMID:25654060, PMID:9420892]"} {"concept_id": "C5139207", "aliases": [], "types": ["T047"], "canonical_name": "Serrated intestinal polyps", "definition": "The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification. [NCIT:C96470, PMID:27540339]"} {"concept_id": "C5139208", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal sebaceous gland morphology", "definition": "Any structural anomaly of the sebaceous glands. [PMID:17975220]"} {"concept_id": "C5139209", "aliases": ["p-ANCA positivity"], "types": ["T034"], "canonical_name": "Perinuclear antineutrophil antibody positivity", "definition": "The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. [ORCID:0000-0002-7440-8864, PMID:24854381, PMID:27481040, PMID:28661185]"} {"concept_id": "C5139210", "aliases": ["Anti-neutrophil cytoplasmic antibody positivity"], "types": ["T033"], "canonical_name": "Cytoplasmic antineutrophil antibody positivity", "definition": "The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. [ORCID:0000-0002-7440-8864, PMID:14646155, PMID:24854381, PMID:27481040, PMID:28661185]"} {"concept_id": "C5139211", "aliases": ["Increased circulating CK MB isoform"], "types": ["T033"], "canonical_name": "Increased circulating creatine kinase MB isoform", "definition": "An increased concentration of the MB isoform of creatine kinase in the blood circulation. [PMID:21448658]"} {"concept_id": "C5139212", "aliases": ["Increased circulating CK BB isoform"], "types": ["T033"], "canonical_name": "Increased circulating creatine kinase BB isoform", "definition": "An increased concentration of the BB isoform of creatine kinase in the blood circulation. [PMID:21448658]"} {"concept_id": "C5139213", "aliases": ["Increased circulating CK MM isoform"], "types": ["T033"], "canonical_name": "Increased circulating creatine kinase MM isoform", "definition": "An increased concentration of the MM isoform of creatine kinase in the blood circulation. [PMID:21448658]"} {"concept_id": "C5139215", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating immature neutrophil count", "definition": "An abnormally increased number of immature neutrophils in the peripheral blood circulation. [PMID:25887201]"} {"concept_id": "C5139216", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating myelocyte count", "definition": "An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1. [PMID:25887201]"} {"concept_id": "C5139217", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating metamyelocyte count", "definition": "An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1. [PMID:25887201]"} {"concept_id": "C5139218", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating E selectin level", "definition": "An increased concentration of E selectin in the blood circulation. [PMID:12591072]"} {"concept_id": "C5139219", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal tissue metabolite concentration", "definition": "Any deviation from the normal concentration of a metabolite in a tissue. []"} {"concept_id": "C5139220", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal metabolism", "definition": "An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. []"} {"concept_id": "C5139221", "aliases": [], "types": ["T033"], "canonical_name": "Persistent CMV viremia", "definition": "Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation. [PMID:28130404]"} {"concept_id": "C5139222", "aliases": [], "types": ["T033"], "canonical_name": "Persistent viremia", "definition": "Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host. []"} {"concept_id": "C5139223", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal immune system morphology"} {"concept_id": "C5139224", "aliases": [], "types": ["T047"], "canonical_name": "Opportunistic fungal infection", "definition": "An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system. []"} {"concept_id": "C5139226", "aliases": [], "types": ["T047"], "canonical_name": "Chronic tinea infection", "definition": "The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect. [PMID:25403034]"} {"concept_id": "C5139227", "aliases": [], "types": ["T047"], "canonical_name": "Opportunistic bacterial infection", "definition": "An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system. []"} {"concept_id": "C5139228", "aliases": [], "types": ["T047"], "canonical_name": "Nontuberculous mycobacterial pulmonary infection", "definition": "An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease. [PMID:24624285, PMID:7472715]"} {"concept_id": "C5139229", "aliases": ["Presence of anti-N-methyl-D-aspartate Receptor antibody in blood", "Presence of anti-NMDAR antibody in blood"], "types": ["T034"], "canonical_name": "Anti-NMDA receptor antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. [PMID:24729779]"} {"concept_id": "C5139230", "aliases": ["Cerebrospinal fluid autoimmune antibody positivity"], "types": ["T033"], "canonical_name": "CSF autoimmune antibody positivity", "definition": "The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues. []"} {"concept_id": "C5139231", "aliases": ["Presence of anti-NMDAR antibody in cerebrospinal fluid", "Presence of NMDAR antibody in CSF", "Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF"], "types": ["T034"], "canonical_name": "CSF anti-NMDA receptor antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. [PMID:29651625]"} {"concept_id": "C5139232", "aliases": [], "types": ["T184"], "canonical_name": "Dural tail sign", "definition": "This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor. [PMID:19881070]"} {"concept_id": "C5139233", "aliases": [], "types": ["T184"], "definition": "A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common. [PMID:19881070]", "canonical_name": "Optic nerve tram-track sign"} {"concept_id": "C5139234", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary N-acetylaspartic acid level", "definition": "Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. [PMID:8412017]"} {"concept_id": "C5139235", "aliases": ["Increased circulating N-acetyl-L-aspartic acid level", "Increased circulating N-acetyl aspartic acid level", "Increased circulating N-acetyl aspartate level", "Increased circulating N-acetylaspartate level", "Increased circulating NAA level"], "types": ["T033"], "canonical_name": "Increased circulating N-Acetylaspartic acid concentration", "definition": "An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation. [PMID:8412017]"} {"concept_id": "C5139236", "aliases": ["Increased N-acetyl aspartic acid levels in CSF", "Increased N-acetyl-L-aspartic acid levels in CSF", "Increased N-acetylaspartate levels in CSF", "Increased NAA levels in CSF", "Increased N-acetyl aspartate levels in CSF"], "types": ["T033"], "canonical_name": "Increased CSF N-acetylaspartic acid concentration", "definition": "An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF). [PMID:8412017]"} {"concept_id": "C5139237", "aliases": [], "types": ["T190"], "canonical_name": "Prominent subcalcaneal fat pad", "definition": "Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062. [PMID:26769062]"} {"concept_id": "C5139238", "aliases": [], "types": ["T190"], "canonical_name": "Lozenge-shaped umbilicus"} {"concept_id": "C5139239", "aliases": [], "types": ["T033"], "canonical_name": "2-hydroxyglutarate aciduria", "definition": "An increase in the level of 2-hydroxyglutaric acid in the urine. []"} {"concept_id": "C5139240", "aliases": [], "types": ["T047"], "canonical_name": "Disseminated nontuberculous mycobacterial infection", "definition": "An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease. []"} {"concept_id": "C5139241", "aliases": [], "types": ["T033"], "canonical_name": "Ultra-low vision with retained motion projection", "definition": "Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm). [UManchester:psergouniotis]"} {"concept_id": "C5139242", "aliases": [], "types": ["T033"], "canonical_name": "Ultra-low vision with retained light projection", "definition": "Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus. [UManchester:psergouniotis]"} {"concept_id": "C5139243", "aliases": [], "types": ["T033"], "canonical_name": "Ultra-low vision with retained light perception", "definition": "Ultra-low vision but with retained ability to perceive the difference between light and dark. [UManchester:psergouniotis]"} {"concept_id": "C5139244", "aliases": [], "types": ["T033"], "canonical_name": "Ultra-low vision with no light perception", "definition": "Ultra-low vision with complete lack of light and form perception. [UManchester:psergouniotis]"} {"concept_id": "C5139245", "aliases": [], "types": ["T033"], "canonical_name": "Polyclonal elevation of circulating IgG", "definition": "An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains. [PMID:15663032]"} {"concept_id": "C5139246", "aliases": [], "types": ["T033"], "canonical_name": "Oligoclonal elevation of circulating IgG", "definition": "An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. []"} {"concept_id": "C5139247", "aliases": [], "types": ["T033"], "canonical_name": "Monoclonal elevation of IgG", "definition": "An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. []"} {"concept_id": "C5139248", "aliases": [], "types": ["T033"], "canonical_name": "Monoclonal elevation of intact IgG", "definition": "A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain. []"} {"concept_id": "C5139249", "aliases": [], "types": ["T033"], "canonical_name": "Monoclonal elevation of IgG light chain", "definition": "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain. [PMID:10926917]"} {"concept_id": "C5139250", "aliases": [], "types": ["T033"], "canonical_name": "Monoclonal elevation of IgG heavy chain", "definition": "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain. []"} {"concept_id": "C5139251", "aliases": [], "types": ["T033"], "canonical_name": "Monoclonal elevation of IgG kappa chain", "definition": "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain. []"} {"concept_id": "C5139252", "aliases": [], "types": ["T033"], "canonical_name": "Monoclonal elevation of IgG lambda chain", "definition": "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain. []"} {"concept_id": "C5139253", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating IgG subclass", "definition": "An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses. [PMID:25368619]"} {"concept_id": "C5139254", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating IgG3 level", "definition": "An abnormally increased concentration of the IgG3 subtype in the blood circulation. [PMID:25368619, UCDenver:tjcallahan]"} {"concept_id": "C5139255", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating IgG1 level", "definition": "An abnormally increased concentration of the IgG1 subtype in the blood circulation. [PMID:25368619, UCDenver:tjcallahan]"} {"concept_id": "C5139256", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating IgG2 level", "definition": "An abnormally increased concentration of the IgG2 subtype in the blood circulation. [PMID:25368619, UCDenver:tjcallahan]"} {"concept_id": "C5139257", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating IgG4 level", "definition": "An abnormally increased concentration of the IgG4 subtype in the blood circulation. [PMID:25368619, UCDenver:tjcallahan]"} {"concept_id": "C5139258", "aliases": [], "types": ["T033"], "canonical_name": "Kappa Bence Jones proteinuria", "definition": "The presence of free monoclonal kappa immunoglobulin light chains in the urine. []"} {"concept_id": "C5139259", "aliases": [], "types": ["T033"], "canonical_name": "Lambda Bence Jones proteinuria", "definition": "The presence of free monoclonal lambda immunoglobulin light chains in the urine. []"} {"concept_id": "C5139260", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal mannose-binding protein level", "definition": "Any deviation from the normal concentration of mannose-binding protein in the blood circulation. []"} {"concept_id": "C5139261", "aliases": [], "types": ["T033"], "canonical_name": "Decreased mannose-binding protein level", "definition": "An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation. [OHSU:jpgourdine, PMID:25783214]"} {"concept_id": "C5139262", "aliases": [], "types": ["T033"], "canonical_name": "Increased mannose-binding protein level", "definition": "An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation. [OHSU:jpgourdine, PMID:25783214]"} {"concept_id": "C5139263", "aliases": ["Increased circulating procalcitonin level"], "types": ["T033"], "canonical_name": "Increased circulating procalcitonin concentration", "definition": "An elevated concentration of procalcitonin in the blood circulation. [PMID:28794881, PMID:2933297, UCDenver:tjcallahan]"} {"concept_id": "C5139264", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal granulocyte count", "definition": "Any deviation from the normal cell count per volume of granulocytes in the blood circulation. []"} {"concept_id": "C5139265", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating globulin level", "definition": "An abnormally elevated concentration of globulins in the blood. [UCDenver:tjcallahan]"} {"concept_id": "C5139266", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating globulin level", "definition": "An abnormally reduced concentration of globulins in the blood. []"} {"concept_id": "C5139267", "aliases": [], "types": ["T047"], "canonical_name": "Frontotemporal hypertrichosis", "definition": "Excessive, increased hair growth located in the region of the forehead and temple. []"} {"concept_id": "C5139268", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal areolar morphology", "definition": "An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple. []"} {"concept_id": "C5139269", "aliases": [], "types": ["T190"], "canonical_name": "Areolar fullness", "definition": "The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape. []"} {"concept_id": "C5139270", "aliases": [], "types": ["T033"], "canonical_name": "Non-periodic recurrent fever", "definition": "Episodic fever that recurs at irregular intervals. []"} {"concept_id": "C5139271", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary 11-deoxycortisol level", "definition": "An abnormally elevated concentration of 11-deoxycortisol in the urine. [OHSU:jpgourdine, PMID:10689646]"} {"concept_id": "C5139272", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary 11-deoxycorticosterone level", "definition": "An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine. [OHSU:jpgourdine, PMID:10689646]"} {"concept_id": "C5139273", "aliases": [], "types": ["T033"], "canonical_name": "Increased urinary 11-deoxytetrahydrocorticosterone level", "definition": "An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine. [OHSU:jpgourdine, PMID:10689646]"} {"concept_id": "C5139274", "aliases": [], "types": ["T033"], "canonical_name": "Oligoclonal elevation of circulating IgM", "definition": "An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase. []"} {"concept_id": "C5139275", "aliases": [], "types": ["T033"], "canonical_name": "Polyclonal elevation of circulating IgA", "definition": "A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis. []"} {"concept_id": "C5139276", "aliases": [], "types": ["T033"], "canonical_name": "Oligoclonal elevation of circulating IgA", "definition": "An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. []"} {"concept_id": "C5139277", "aliases": [], "types": ["T033"], "canonical_name": "Monoclonal elevation of circulating IgA", "definition": "An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. []"} {"concept_id": "C5139278", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating specific IgE antibody"} {"concept_id": "C5139279", "aliases": [], "types": ["T033"], "canonical_name": "Monoclonal elevation of circulating IgE", "definition": "An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. []"} {"concept_id": "C5139280", "aliases": [], "types": ["T033"], "canonical_name": "Oligoclonal elevation of circulating IgE", "definition": "An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. []"} {"concept_id": "C5139281", "aliases": [], "types": ["T033"], "canonical_name": "Polyclonal elevation of circulating IgE", "definition": "A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis. []"} {"concept_id": "C5139283", "aliases": ["Reduced FEV1"], "types": ["T033"], "canonical_name": "Reduced forced expiratory volume in one second", "definition": "An abnormal reduction in the amount of air a person can forcefully expel in one second. []"} {"concept_id": "C5139284", "aliases": [], "types": ["T033"], "canonical_name": "Elevated cancer Ag 19-9 level", "definition": "An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation. []"} {"concept_id": "C5139285", "aliases": [], "types": ["T033"], "canonical_name": "Serinuria", "definition": "A increased concentration of serine in the urine. [UCDenver:tjcallahan]"} {"concept_id": "C5139286", "aliases": ["Increased level of phenylalanine in urine"], "types": ["T033"], "canonical_name": "Phenylalaninuria", "definition": "Increased level of phenylalanine in urine. [PMID:18566668, UCDenver:tjcallahan]"} {"concept_id": "C5139287", "aliases": [], "types": ["T033"], "canonical_name": "Leucinuria", "definition": "Increased level of leucine in urine. [UCDenver:tjcallahan]"} {"concept_id": "C5139288", "aliases": [], "types": ["T033"], "canonical_name": "Decreased peak expiratory flow", "definition": "A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways. [PMID:28005993, UCDenver:tjcallahan]"} {"concept_id": "C5139289", "aliases": ["Decreased pre bronchodilator forced vital capacity", "Decreased prebronchodilator forced vital capacity"], "types": ["T033"], "canonical_name": "Decreased pre-bronchodilator forced vital capacity", "definition": "An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication. [PMID:24695507, UCDenver:tjcallahan]"} {"concept_id": "C5139290", "aliases": ["Decreased postbronchodilator forced vital capacity", "Decreased post bronchodilator forced vital capacity"], "types": ["T033"], "canonical_name": "Decreased post-bronchodilator forced vital capacity", "definition": "An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication. [PMID:24695507, UCDenver:tjcallahan]"} {"concept_id": "C5139291", "aliases": ["Decreased post bronchodilator forced expiratory volume in one second", "Decreased postbronchodilator forced expiratory volume in one second"], "types": ["T033"], "canonical_name": "Decreased post-bronchodilator forced expiratory volume in one second", "definition": "An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication. []"} {"concept_id": "C5139292", "aliases": ["Decreased FEF25-75%"], "types": ["T033"], "canonical_name": "Decreased forced expiratory flow 25-75%", "definition": "A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. [PMID:24695507, UCDenver:tjcallahan]"} {"concept_id": "C5139293", "aliases": ["Decreased pre bronchodilator forced expiratory flow 25-75%", "Decreased pre-bronchodilator FEF25-75%", "Decreased prebronchodilator forced expiratory flow 25-75%"], "types": ["T033"], "canonical_name": "Decreased pre-bronchodilator forced expiratory flow 25-75%", "definition": "A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication. [PMID:24695507, UCDenver:tjcallahan]"} {"concept_id": "C5139294", "aliases": ["Decreased postbronchodilator forced expiratory flow 25-75%", "Decreased post-bronchodilator FEF25-75%", "Decreased post bronchodilator forced expiratory flow 25-75%"], "types": ["T033"], "canonical_name": "Decreased post-bronchodilator forced expiratory flow 25-75%", "definition": "A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication. []"} {"concept_id": "C5139295", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating corticosterone level", "definition": "An abnormally elevated concentration of corticosterone in the blood. [UCDenver:tjcallahan]"} {"concept_id": "C5139296", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating corticosterone level", "definition": "An abnormally reduced concentration of corticosterone in the blood. []"} {"concept_id": "C5139298", "aliases": [], "types": ["T033"], "canonical_name": "Exacerbated by aspirin ingestion", "definition": "Applied to a sign or symptom that is worsened by ingestion of aspirin. []"} {"concept_id": "C5139299", "aliases": [], "types": ["T034"], "canonical_name": "Positive direct antiglobulin test", "definition": "A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. [PMID:28134589]"} {"concept_id": "C5139300", "aliases": ["Abnormal somatotropin level"], "types": ["T033"], "canonical_name": "Abnormal growth hormone level", "definition": "Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful. []"} {"concept_id": "C5139301", "aliases": ["Hyperisoleucinuria"], "types": ["T033"], "canonical_name": "Isoleucinuria", "definition": "An increased concentration of isoleucine in the urine. [UCDenver:tjcallahan]"} {"concept_id": "C5139302", "aliases": ["Increased peripheral myeloblast count", "Elevated circulating blasts", "Elevated blast count"], "types": ["T033"], "canonical_name": "Increased peripheral blast count", "definition": "An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications. []"} {"concept_id": "C5139303", "aliases": [], "types": ["T033"], "canonical_name": "Duffy Fya positivity", "definition": "Presence of the Duffy Fya antigen. [PMID:19480920]"} {"concept_id": "C5139304", "aliases": [], "types": ["T033"], "canonical_name": "Duffy Fyb positivity", "definition": "Presence of the Duffy Fyb antigen. [PMID:19480920]"} {"concept_id": "C5139305", "aliases": ["Anti-B2GPI positivity"], "types": ["T034"], "canonical_name": "Anti-beta 2 glycoprotein I antibody positivity", "definition": "Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS). [PMID:28105326]"} {"concept_id": "C5139306", "aliases": ["Increased urinary alpha-1-acid glycoprotein"], "types": ["T033"], "canonical_name": "Increased urinary orosomucoid", "definition": "An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism. [PMID:25711902]"} {"concept_id": "C5139307", "aliases": [], "types": ["T046"], "canonical_name": "Immediate-type hypersensitivity drug reaction", "definition": "Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement. [PMID:24286446]"} {"concept_id": "C5139308", "aliases": ["Abnormal circulating transferrin level"], "types": ["T033"], "canonical_name": "Abnormal circulating transferrin concentration", "definition": "Any deviation from the normal concentration of transferrin in the blood circulation. []"} {"concept_id": "C5139309", "aliases": ["Elevated transferrin level"], "types": ["T033"], "canonical_name": "Elevated circulating transferrin concentration", "definition": "An abnormally increased concentration of transferrin in the blood circulation. [PMID:19787826]"} {"concept_id": "C5139310", "aliases": ["Reduced transferrin level"], "types": ["T033"], "canonical_name": "Reduced circulating transferrin concentration", "definition": "An abnormally decreased concentration of transferrin in the blood circulation. []"} {"concept_id": "C5139311", "aliases": [], "types": ["T047"], "canonical_name": "Periventricular ribbonlike heterotopia", "definition": "Heterotopia that forms a continuous wavy line along the ventricular wall. [COST:neuromig, PMID:22315185]"} {"concept_id": "C5139312", "aliases": [], "types": ["T033"], "canonical_name": "Nodular subcortical heterotopia in peritrigonal regions", "definition": "Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei. [COST:neuromig, PMID:23246003, PMID:29654772]"} {"concept_id": "C5139313", "aliases": [], "types": ["T033"], "canonical_name": "Diffuse ribbon-like subcortical heterotopia", "definition": "Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex. [COST:neuromig, PMID:24859200]"} {"concept_id": "C5139314", "aliases": [], "types": ["T033"], "canonical_name": "Mesial parasagittal subcortical heterotopia", "definition": "Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia. [COST:neuromig, PMID:22578326]"} {"concept_id": "C5139315", "aliases": ["Giant heterotopia"], "types": ["T033"], "canonical_name": "Curvilinear subcortical heterotopia", "definition": "Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia. [COST:neuromig, PMID:22427329]"} {"concept_id": "C5139316", "aliases": [], "types": ["T033"], "canonical_name": "Transmantle columnar heterotopia", "definition": "Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma. [COST:neuromig, PMID:22427329]"} {"concept_id": "C5139317", "aliases": [], "types": ["T019"], "canonical_name": "Dysgyria", "definition": "An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. [COST:neuromig, PMID:26130693, PMID:26564436, PMID:32895508]"} {"concept_id": "C5139318", "aliases": [], "types": ["T019"], "canonical_name": "Dysgyria with normal cortical thickness", "definition": "An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex. [COST:neuromig]"} {"concept_id": "C5139319", "aliases": [], "types": ["T019"], "canonical_name": "Dysgyria with thickened cortex", "definition": "An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria. [COST:neuromig]"} {"concept_id": "C5139320", "aliases": [], "types": ["T047"], "canonical_name": "Aspartic aciduria", "definition": "A increased concentration of aspartic acid in the urine. [PMID:21123949, UCDenver:tjcallahan]"} {"concept_id": "C5139321", "aliases": ["Increased urine asparagine level", "Increased level of asparagine in urine"], "types": ["T033"], "canonical_name": "Asparaginuria", "definition": "An increased concentration of asparagine in the urine. [UCDenver:tjcallahan]"} {"concept_id": "C5139322", "aliases": ["Increased level of phosphoserine in urine"], "types": ["T033"], "canonical_name": "Increased urinary phosphoserine level", "definition": "An increased level of phosphoserine in the urine. [PMID:7688003, UCDenver:tjcallahan]"} {"concept_id": "C5139323", "aliases": [], "types": ["T019"], "canonical_name": "Unilateral perisylvian polymicrogyria", "definition": "A type of perisylvian polymicrogyria that largely affects one side of the brain. [COST:neuromig, PMID:20301504]"} {"concept_id": "C5139324", "aliases": ["Bilateral generalised polymicrogyria", "Bilateral generalized polymicrogyria"], "types": ["T019"], "definition": "Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter. [COST:neuromig, PMID:20301504]", "canonical_name": "Diffuse polymicrogyria"} {"concept_id": "C5139325", "aliases": ["Occipital subcortical band heterotopia", "Subcortical band heterotopia posterior predominant"], "types": ["T047"], "canonical_name": "Posterior predominant subcortical band heterotopia", "definition": "Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex. [COST:neuromig]"} {"concept_id": "C5139326", "aliases": ["Subcortical band heterotopia anterior predominant", "Frontal subcortical band heterotopia"], "types": ["T047"], "canonical_name": "Anterior predominant subcortical band heterotopia", "definition": "Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes. [COST:neuromig]"} {"concept_id": "C5139327", "aliases": ["Subcortical band heterotopia diffuse"], "types": ["T047"], "canonical_name": "Diffuse subcortical band heterotopia", "definition": "Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain. [COST:neuromig]"} {"concept_id": "C5139329", "aliases": [], "types": ["T019"], "canonical_name": "Parasagittal parieto-occipital polymicrogyria", "definition": "Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex. [COST:neuromig, PMID:20301504, PMID:21127420]"} {"concept_id": "C5139330", "aliases": ["Periglomerular fibrotic thickening"], "types": ["T046"], "canonical_name": "Periglomerular fibrosis", "definition": "Circumferential fibrosis in the interstitium surrounding Bowman's capsule [PMID:21204717, PMID:32866505]"} {"concept_id": "C5139331", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal HDL subfraction concentration", "definition": "An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm). [PMID:17291473]"} {"concept_id": "C5139332", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal HDL2a concentration", "definition": "Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. [PMID:17291473]"} {"concept_id": "C5139333", "aliases": [], "types": ["T033"], "canonical_name": "Decreased HDL2a concentration", "definition": "A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. [PMID:17291473]"} {"concept_id": "C5139334", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal HDL2b concentration", "definition": "Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm. [PMID:17291473]"} {"concept_id": "C5139335", "aliases": [], "types": ["T033"], "canonical_name": "Decreased HDL2b concentration", "definition": "A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. [PMID:17291473]"} {"concept_id": "C5139336", "aliases": [], "types": ["T033"], "canonical_name": "Increased HDL2b concentration", "definition": "An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. [PMID:17291473]"} {"concept_id": "C5139337", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal HDL3a concentration", "definition": "Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. [PMID:17291473]"} {"concept_id": "C5139338", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal HDL3b concentration", "definition": "Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. [PMID:17291473]"} {"concept_id": "C5139339", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal HDL3c concentration", "definition": "Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. [PMID:17291473]"} {"concept_id": "C5139340", "aliases": [], "types": ["T033"], "canonical_name": "Increased HDL3a concentration", "definition": "An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. [PMID:17291473]"} {"concept_id": "C5139341", "aliases": [], "types": ["T033"], "canonical_name": "Decreased HDL3a concentration", "definition": "A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. [PMID:17291473]"} {"concept_id": "C5139342", "aliases": [], "types": ["T033"], "canonical_name": "Increased HDL3b concentration", "definition": "An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. [PMID:17291473]"} {"concept_id": "C5139343", "aliases": [], "types": ["T033"], "canonical_name": "Decreased HDL3b concentration", "definition": "A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. [PMID:17291473]"} {"concept_id": "C5139344", "aliases": [], "types": ["T033"], "canonical_name": "Increased HDL3c concentration", "definition": "An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. [PMID:17291473]"} {"concept_id": "C5139345", "aliases": [], "types": ["T033"], "canonical_name": "Decreased HDL3c concentration", "definition": "A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. [PMID:17291473]"} {"concept_id": "C5139346", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal C-reactive protein level", "definition": "Any deviation from the normal concentration of C-reactive protein in the blood circulation. []"} {"concept_id": "C5139347", "aliases": [], "types": ["T033"], "canonical_name": "Reduced C-reactive protein level", "definition": "An abnormal decrease of the C-reactive protein level in serum. [PMID:17852082, UCDenver:tjcallahan]"} {"concept_id": "C5139348", "aliases": [], "types": ["T046"], "canonical_name": "Airborn particle hypersensitivity", "definition": "An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen. [PMID:30408667, PMID:8077583]"} {"concept_id": "C5139349", "aliases": ["s/p organ transplantation"], "types": ["T033"], "canonical_name": "Status post organ transplantation", "definition": "The affected individual has received an organ transplant previous to the current medical encounter. []"} {"concept_id": "C5139350", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal dermoepidermal hemidesmosome morphology", "definition": "An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane. [PMID:25487405, PMID:26017636]"} {"concept_id": "C5139351", "aliases": [], "types": ["T033"], "canonical_name": "Positive blood arsenic test", "definition": "Detection of arsenic in the blood circulation. []"} {"concept_id": "C5139352", "aliases": ["Melanotic macule of oral mucosa"], "types": ["T033"], "canonical_name": "Oral melanotic macule", "definition": "Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented. [PMID:24034073, PMID:26538887]"} {"concept_id": "C5139353", "aliases": [], "types": ["T033"], "canonical_name": "Oral melanoacanthoma", "definition": "Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions. [PMID:24034073]"} {"concept_id": "C5139354", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal lip pigmentation", "definition": "Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal. []"} {"concept_id": "C5139355", "aliases": [], "types": ["T033"], "canonical_name": "Reduced granulocyte CD18 level", "definition": "Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry. [PMID:20142805]"} {"concept_id": "C5139356", "aliases": [], "types": ["T019"], "canonical_name": "Unlayered lissencephaly", "definition": "A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter. [COST:neuromig]"} {"concept_id": "C5139357", "aliases": [], "types": ["T019"], "canonical_name": "2-3-layered lissencephaly", "definition": "Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity. [COST:neuromig, PMID:28440899]"} {"concept_id": "C5139358", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal phosphoribosylpyrophosphate synthetase level", "definition": "Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. [PMID:4200723]"} {"concept_id": "C5139359", "aliases": [], "types": ["T033"], "canonical_name": "Decreased phosphoribosylpyrophosphate synthetase level", "definition": "Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. [PMID:17701900, PMID:20301731]"} {"concept_id": "C5139360", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating palmitate level", "definition": "An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation. [PMID:29167646]"} {"concept_id": "C5139361", "aliases": ["Decreased plasma fibronectin"], "types": ["T033"], "canonical_name": "Reduced circulating fibronectin level", "definition": "A reduction below the normal concentration of fibronectin the the blood circulation. [PMID:27185500]"} {"concept_id": "C5139362", "aliases": ["Olfactory bulb aplasia", "Aplastic olfactory bulb"], "types": ["T019"], "canonical_name": "Aplasia of the olfactory bulb", "definition": "Lack of formation (congenital absence) of the olfactory bulb. [ORCID:0000-0001-5208-3432, PMID:27863011]"} {"concept_id": "C5139363", "aliases": ["Maternal medical history"], "types": ["T033"], "canonical_name": "Past obstetric history", "definition": "Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies. []"} {"concept_id": "C5139364", "aliases": [], "types": ["T034"], "canonical_name": "Anti-asialoglycoprotein receptor antibody positivity", "definition": "Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation. [PMID:26000135]"} {"concept_id": "C5139365", "aliases": [], "types": ["T019"], "canonical_name": "Focal polymicrogyria", "definition": "Polymicrogyria affecting one or multiple small areas of the cerebral cortex. [COST:neuromig, PMID:20198472, PMID:22427329]"} {"concept_id": "C5139366", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urine urobilinogen level", "definition": "An abnormal concentration of urobilinogen in the urine. []"} {"concept_id": "C5139367", "aliases": [], "types": ["T019"], "canonical_name": "6-layered lissencephaly"} {"concept_id": "C5139368", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating vitamin B6 level", "definition": "An abnormal concentration of vitamin B6 in the blood circulation. []"} {"concept_id": "C5139369", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating vitamin B6 level", "definition": "An abnormally increased concentration of vitamin B6 in the blood circulation. []"} {"concept_id": "C5139370", "aliases": [], "types": ["T047"], "canonical_name": "Lateral spinal meningocele", "definition": "Protrusion of the arachnoid and dura through spinal foramina. [PMID:24311540]"} {"concept_id": "C5139371", "aliases": ["Preimplantation embryonic lethality"], "types": ["T033"], "canonical_name": "Preimplantation lethality", "definition": "It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development. [PMID:27545678]"} {"concept_id": "C5139372", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal pituitary glycoprotein hormone alpha subunit level", "definition": "Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). []"} {"concept_id": "C5139373", "aliases": ["Decreased pituitary glycoprotein polypeptide alpha subunit level", "Decreased pituitary glycoprotein alpha subunit level"], "types": ["T033"], "canonical_name": "Decreased pituitary glycoprotein hormone alpha subunit level", "definition": "An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). []"} {"concept_id": "C5139375", "aliases": ["Elevated faecal sodium"], "types": ["T033"], "canonical_name": "Elevated fecal sodium", "definition": "An elevated concentration of sodium in feces. [PMID:26358773]"} {"concept_id": "C5139376", "aliases": ["Abnormal faecal osmolality"], "types": ["T033"], "canonical_name": "Abnormal fecal osmolality", "definition": "Abnormal concentration of feces as assessed by the total number of solute particles per kilogram. []"} {"concept_id": "C5139377", "aliases": ["Elevated faecal osmolality"], "types": ["T033"], "canonical_name": "Elevated fecal osmolality", "definition": "Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram. []"} {"concept_id": "C5139378", "aliases": ["Reduced faecal osmolality"], "types": ["T033"], "canonical_name": "Reduced fecal osmolality", "definition": "Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram. []"} {"concept_id": "C5139379", "aliases": ["Abnormal faecal pH"], "types": ["T033"], "canonical_name": "Abnormal fecal pH", "definition": "Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline. []"} {"concept_id": "C5139380", "aliases": ["Decreased faecal pH"], "types": ["T033"], "canonical_name": "Decreased fecal pH", "definition": "Abnormally low fecal pH, i.e., abnormal acidity of feces. []"} {"concept_id": "C5139381", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating argininosuccinic acid", "definition": "An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation. [PMID:22241104, UCDenver:tjcallahan]"} {"concept_id": "C5139382", "aliases": ["Anti-MOG antibody positivity"], "types": ["T034"], "canonical_name": "Anti-myelin oligodendrocyte glycoprotein antibody positivity", "definition": "Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein. [OHSU:jpgourdine, PMID:28533781]"} {"concept_id": "C5139383", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal terminal:vellus ratio", "definition": "A deviation from the normal proportion of terminal to vellus hairs. [PMID:12894995]"} {"concept_id": "C5139384", "aliases": [], "types": ["T033"], "canonical_name": "Elevated terminal:vellus ratio", "definition": "An increased proportion of terminal hairs compared to vellus hairs. [PMID:23044568]"} {"concept_id": "C5139385", "aliases": [], "types": ["T033"], "canonical_name": "Reduced terminal:vellus ratio", "definition": "A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia. [PMID:23044568]"} {"concept_id": "C5139386", "aliases": [], "types": ["T033"], "canonical_name": "Giant neutrophil granules", "definition": "The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation. [PMID:9665278]"} {"concept_id": "C5139387", "aliases": ["Aggravated by tobacco use", "Exacerbated by smoking", "Smoking or tobacco use exacerbates symptoms"], "types": ["T033"], "canonical_name": "Exacerbated by tobacco use", "definition": "Applied to a sign or symptom that is worsened by smoking tobacco products. []"} {"concept_id": "C5139388", "aliases": ["Contraceptive pills aggravate symptoms"], "types": ["T033"], "canonical_name": "Exacerbated by contraceptive medication", "definition": "Applied to a sign or symptom that is worsened by taking contraceptive medication. []"} {"concept_id": "C5139389", "aliases": ["Barbiturates produce worsening"], "types": ["T033"], "canonical_name": "Exacerbated by barbiturate medication", "definition": "Applied to a sign or symptom that is worsened by taking barbituates. []"} {"concept_id": "C5139390", "aliases": ["Ethanol reduces manifestations"], "types": ["T033"], "canonical_name": "Ameliorated by ethanol ingestion", "definition": "Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol). []"} {"concept_id": "C5139391", "aliases": ["Fasciculations, labiomental"], "types": ["T033"], "canonical_name": "Labiomental fasciculations", "definition": "Fasciculations affecting the tongue muscle and the musculature of the chin. []"} {"concept_id": "C5139392", "aliases": [], "types": ["T048"], "canonical_name": "Polyembolokoilamania", "definition": "Habitual insertion of foreign bodies into bodily orifices. [PMID:22690353]"} {"concept_id": "C5139393", "aliases": [], "types": ["T033"], "canonical_name": "Superiorly positioned umbilicus", "definition": "The position of the umbilicus (belly button) is abnormally high (superior). []"} {"concept_id": "C5139394", "aliases": ["Lacrimal punctum, duplication", "Double lacrimal puncta"], "types": ["T019"], "canonical_name": "Duplicated lacrimal punctum", "definition": "A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face. [PMID:19875171]"} {"concept_id": "C5139395", "aliases": [], "types": ["T047"], "canonical_name": "Invasive dermatophyte infection", "definition": "Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails. [PMID:20092423]"} {"concept_id": "C5139396", "aliases": [], "types": ["T033"], "canonical_name": "Increased Burr cell count", "definition": "Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals. [PMID:5614071]"} {"concept_id": "C5139397", "aliases": [], "types": ["T033"], "canonical_name": "Masseter muscular weakness", "definition": "Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw. []"} {"concept_id": "C5139398", "aliases": ["Spasmodic upper-body squeeze"], "types": ["T048"], "canonical_name": "Self hugging", "definition": "Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting. [PMID:8132119]"} {"concept_id": "C5139399", "aliases": ["Immunosupressive therapy improves condition"], "types": ["T033"], "canonical_name": "Ameliorated by immunosuppresion", "definition": "Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication. []"} {"concept_id": "C5139400", "aliases": [], "types": ["T033"], "canonical_name": "Aggravated by acetylcholinesterase inhibitor", "definition": "Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon). []"} {"concept_id": "C5139401", "aliases": [], "types": ["T033"], "canonical_name": "Ameliorated by acetylcholinesterase inhibitor", "definition": "Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon. []"} {"concept_id": "C5139402", "aliases": ["Low-set umbilicus", "Low set umbilicus"], "types": ["T033"], "canonical_name": "Inferiorly positioned umbilicus", "definition": "The position of the umbilicus (belly button) is abnormally low (inferior). []"} {"concept_id": "C5139403", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary 4-hydroxybutyric acid", "definition": "An increased amount of 4-hydroxybutyric acid in the urine. []"} {"concept_id": "C5139405", "aliases": [], "types": ["T033"], "canonical_name": "Decreased succinic semialdehyde dehydrogenase level", "definition": "Reduced level of succinic semialdehyde dehydrogenase (SSADH). [PMID:25485164]"} {"concept_id": "C5139406", "aliases": [], "types": ["T033"], "canonical_name": "Elevated CSF gamma-aminobutyric acid concentration"} {"concept_id": "C5139407", "aliases": ["Elevated CSF gamma-hydroxybutyric acid", "Elevated CSF GHB levels"], "types": ["T033"], "canonical_name": "Elevated CSF 4-hydroxybutyric acid concentration", "definition": "Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF). [PMID:25485164]"} {"concept_id": "C5139409", "aliases": ["Methylxanthines produce worsening"], "types": ["T033"], "canonical_name": "Exacerbated by methylxanthine ingestion", "definition": "Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate). []"} {"concept_id": "C5139410", "aliases": [], "types": ["T082"], "canonical_name": "Cervical (neck)", "definition": "Applies to an abnormality that is situated in the neck. []"} {"concept_id": "C5139411", "aliases": [], "types": ["T033"], "canonical_name": "Increased number of lymph nodes", "definition": "An abnormally elevated number of lymph nodes in an anatomical region. [PMID:20301630]"} {"concept_id": "C5139412", "aliases": [], "types": ["T082"], "canonical_name": "Joint extensor surface localization", "definition": "Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint. []"} {"concept_id": "C5139413", "aliases": [], "types": ["T082"], "canonical_name": "Joint flexor surface localization", "definition": "Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed). []"} {"concept_id": "C5139414", "aliases": [], "types": ["T033"], "canonical_name": "Exacerbated by pregnancy", "definition": "Applied to a sign or symptom that is worsened by being pregnant. []"} {"concept_id": "C5139415", "aliases": [], "types": ["T184"], "canonical_name": "Lithoptysis", "definition": "Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen. [PMID:23949189, PMID:29970776]"} {"concept_id": "C5139416", "aliases": ["Immunoglobulin E-mediated cow milk allergy"], "types": ["T046"], "canonical_name": "IgE-mediated cow milk allergy"} {"concept_id": "C5139417", "aliases": ["Abnormal Ca2+ PO4 regulating hormone level", "Abnormal Ca-PHOS regulating hormone level"], "types": ["T033"], "canonical_name": "Abnormal calcium-phosphate regulating hormone level", "definition": "Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium. []"} {"concept_id": "C5139418", "aliases": [], "types": ["T033"], "canonical_name": "Growths in inner lining of intestine"} {"concept_id": "C5139419", "aliases": [], "types": ["T033"], "canonical_name": "Positive urine norcotinine test", "definition": "Detection of norcotinine, a metabolite of nicotine, in urine. []"} {"concept_id": "C5139420", "aliases": ["Abnormal IgA level in blood"], "types": ["T033"], "canonical_name": "Abnormal circulating IgA level", "definition": "An abnormal deviation from normal levels of IgA immunoglobulin in blood. []"} {"concept_id": "C5139421", "aliases": ["Abnormal IgE level in blood"], "types": ["T033"], "canonical_name": "Abnormal circulating IgE level", "definition": "An abnormal deviation from normal levels of IgE immunoglobulin in blood. []"} {"concept_id": "C5139422", "aliases": ["Abnormal IgG level in blood"], "types": ["T033"], "canonical_name": "Abnormal circulating IgG level", "definition": "An abnormal deviation from normal levels of IgG immunoglobulin in blood. []"} {"concept_id": "C5139423", "aliases": ["Abnormal IgM level in blood"], "types": ["T033"], "canonical_name": "Abnormal circulating IgM level", "definition": "An abnormal deviation from normal levels of IgM immunoglobulin in blood. []"} {"concept_id": "C5139424", "aliases": ["Abnormal IgD level in blood"], "types": ["T033"], "canonical_name": "Abnormal circulating IgD level", "definition": "An abnormal deviation from normal levels of IgD immunoglobulin in blood. []"} {"concept_id": "C5139425", "aliases": ["Increased level of anti-dander IgE antibody"], "types": ["T033"], "canonical_name": "Increased anti-animal dander IgE antibody level", "definition": "Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats. []"} {"concept_id": "C5139426", "aliases": ["Increased anti-house dust IgE antibody level", "Increased level of anti-house dust IgE antibody"], "types": ["T033"], "canonical_name": "Increased anti-house dust mite IgE antibody level", "definition": "Increased level of IgE antibody against house dust mites, a common allergen. []"} {"concept_id": "C5139427", "aliases": ["Increased anti-galactose-alpha-1, 3 galactose IgE antibody level"], "types": ["T033"], "canonical_name": "Increased anti-alpha-gal IgE antibody level", "definition": "Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat. [PMID:29986992]"} {"concept_id": "C5139428", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal L-selectin shedding", "definition": "An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection. [PMID:8614468]"} {"concept_id": "C5139430", "aliases": [], "types": ["T047"], "canonical_name": "Cyclic neutropenia in myeloid maturation arrest in bone marrow", "definition": "Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. [PMID:23233578]"} {"concept_id": "C5139431", "aliases": [], "types": ["T033"], "canonical_name": "Transient neutropenia", "definition": "A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity. [PMID:23953336]"} {"concept_id": "C5139432", "aliases": [], "types": ["T033"], "canonical_name": "Infection associated neutropenia", "definition": "Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan. [PMID:23953336]"} {"concept_id": "C5139433", "aliases": [], "types": ["T033"], "canonical_name": "Neutrophilia in presence of infection", "definition": "An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus. [PMID:27543669]"} {"concept_id": "C5139434", "aliases": [], "types": ["T033"], "canonical_name": "Neutrophilia in absence of infection", "definition": "An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders. [PMID:24050624]"} {"concept_id": "C5139435", "aliases": ["Wide space between the 4th and 5th toe"], "types": ["T190"], "canonical_name": "Wide space between 4th and 5th toe", "definition": "A widely spaced gap between the fourth toe and the fifth (pinky) toe. []"} {"concept_id": "C5139436", "aliases": ["Abnormal lower cranial nerve function"], "types": ["T046"], "canonical_name": "Lower cranial nerve dysfunction", "definition": "A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves. [PMID:26167022]"} {"concept_id": "C5139437", "aliases": [], "types": ["T191"], "canonical_name": "Supraglottic hemangioma", "definition": "A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords. [PMID:16866116]"} {"concept_id": "C5139438", "aliases": [], "types": ["T191"], "canonical_name": "Visceral hemangioma", "definition": "A hemangioma arising from within visceral structures, the internal organs of the body. [https://doi.org/10.1016/j.epsc.2014.06.004]"} {"concept_id": "C5139439", "aliases": ["Intestinal hemangioma", "Bowel hemangioma"], "types": ["T191"], "canonical_name": "Intestinal hemangioma", "definition": "A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel. [https://orcid.org/0000-0001-5208-3432]"} {"concept_id": "C5139440", "aliases": [], "types": ["T191"], "canonical_name": "Labial hemangioma", "definition": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip. [http://www.jpss.eu/index.php/current-issue/item/457-forty-four-cases-of-labial-hemangioma-therapeutic-management]"} {"concept_id": "C5139441", "aliases": ["Throat hemangioma"], "types": ["T191"], "canonical_name": "Laryngeal hemangioma", "definition": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions. [PMID:28419860]"} {"concept_id": "C5139442", "aliases": [], "types": ["T191"], "canonical_name": "Retropharyngeal hemangioma", "definition": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx. [PMID:26011223, UBERON:0035619]"} {"concept_id": "C5139443", "aliases": [], "types": ["T191"], "canonical_name": "Paraspinal hemangioma", "definition": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine. [http://ispub.com/IJOS/11/1/8101#]"} {"concept_id": "C5139444", "aliases": ["Lumbar/sacral hemangioma"], "types": ["T191"], "canonical_name": "Lumbosacral hemangioma", "definition": "A spinal cord hemangioma located in the lumbosacral spine region. [PMID:25449217]"} {"concept_id": "C5139445", "aliases": ["Pituitary gland atrophy", "Atrophic pituitary"], "types": ["T046"], "canonical_name": "Atrophic pituitary gland", "definition": "Partial or complete wasting (loss) of the pituitary gland. [DOI:10.1530/endoabs.44.EP82]"} {"concept_id": "C5139446", "aliases": ["Paediatric onset", "Onset before adulthood"], "types": ["T033"], "canonical_name": "Pediatric onset", "definition": "Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. [ORCID:0000-0002-0843-4271]"} {"concept_id": "C5139447", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating amylase level", "definition": "A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. [NCIT:C16284]"} {"concept_id": "C5139448", "aliases": ["Positive blood Tylenol test", "Positive blood paracetamol test"], "types": ["T033"], "canonical_name": "Positive blood acetaminophen test", "definition": "Detection of acetaminophen in the blood. []"} {"concept_id": "C5139449", "aliases": [], "types": ["T033"], "canonical_name": "Positive norpropoxyphene blood test", "definition": "Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene. [PubChem:18804]"} {"concept_id": "C5139450", "aliases": [], "types": ["T033"], "canonical_name": "Positive meconium methadone test", "definition": "Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium. []"} {"concept_id": "C5139451", "aliases": ["Positive blood Moban test"], "types": ["T033"], "canonical_name": "Positive blood molindone test", "definition": "Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia. [PubChem:23897]"} {"concept_id": "C5139452", "aliases": ["Chest hemangioma"], "types": ["T191"], "canonical_name": "Intrathoracic hemangioma", "definition": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region. []"} {"concept_id": "C5139453", "aliases": ["Decreased circulating amylase level"], "types": ["T033"], "canonical_name": "Hypoamylasemia", "definition": "Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. []"} {"concept_id": "C5139454", "aliases": [], "types": ["T033"], "canonical_name": "Positive urine norpropoxyphene test", "definition": "Detection of norpropoxyphene in urine. []"} {"concept_id": "C5139455", "aliases": ["Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)", "Abnormal level of natural antibody to blood group agents"], "types": ["T033"], "canonical_name": "Abnormal isohemagglutinin level", "definition": "An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). []"} {"concept_id": "C5139456", "aliases": ["Absent natural antibody to blood group agents", "Complete or near-complete absence of isohemagglutinins"], "types": ["T033"], "canonical_name": "Absent isohemagglutinin level", "definition": "Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). [PMID:25309532]"} {"concept_id": "C5139457", "aliases": [], "types": ["T033"], "canonical_name": "Decreased specific antibody response to protein vaccine", "definition": "A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination. [PMID:26018535]"} {"concept_id": "C5139458", "aliases": [], "types": ["T033"], "canonical_name": "Complete or near-complete absence of specific antibody response to tetanus vaccine", "definition": "The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. []"} {"concept_id": "C5139459", "aliases": [], "types": ["T033"], "canonical_name": "Complete or near-complete absence of specific antibody response to hepatitis B vaccine", "definition": "The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination. []"} {"concept_id": "C5139460", "aliases": [], "types": ["T033"], "canonical_name": "Partial absence of specific antibody response to tetanus vaccine", "definition": "A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. []"} {"concept_id": "C5139461", "aliases": [], "types": ["T033"], "canonical_name": "Partial absence of specific antibody response to hepatitis B vaccine", "definition": "A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination. []"} {"concept_id": "C5139462", "aliases": [], "types": ["T033"], "canonical_name": "Decreased specific antibody response to polysaccharide vaccine", "definition": "A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination. [PMID:26018535]"} {"concept_id": "C5139463", "aliases": [], "types": ["T033"], "canonical_name": "Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine", "definition": "The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. []"} {"concept_id": "C5139464", "aliases": [], "types": ["T033"], "canonical_name": "Partial absence of specific antibody response to unconjugated pneumococcus vaccine", "definition": "A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. []"} {"concept_id": "C5139465", "aliases": [], "types": ["T033"], "canonical_name": "Decreased specific antibody response to protein-conjugated polysaccharide vaccine", "definition": "A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. [PMID:26018535]"} {"concept_id": "C5139466", "aliases": [], "types": ["T033"], "canonical_name": "Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine", "definition": "The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. []"} {"concept_id": "C5139467", "aliases": [], "types": ["T033"], "canonical_name": "Complete or near-complete absence of specific antibody response to meningococcus vaccine", "definition": "The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination. []"} {"concept_id": "C5139468", "aliases": [], "types": ["T033"], "canonical_name": "Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine", "definition": "A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. []"} {"concept_id": "C5139469", "aliases": [], "types": ["T033"], "canonical_name": "Partial absence of specific antibody response to meningococcus vaccine", "definition": "A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination. []"} {"concept_id": "C5139470", "aliases": [], "types": ["T033"], "canonical_name": "Positive stool methadone test", "definition": "Detection of methadone and its metabolites in the stool. []"} {"concept_id": "C5139471", "aliases": [], "types": ["T033"], "canonical_name": "Decreased specific antibody response to infection", "definition": "A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection. []"} {"concept_id": "C5139472", "aliases": ["Abnormality of neutrophil morphology in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormality of neutrophil morphology in CSF", "definition": "An abnormal form or size of neutrophils in the cerebrospinal fluid. [https://orcid.org/0000-0002-8169-9049]"} {"concept_id": "C5139473", "aliases": ["Hyposegmentation of neutrophil nuclei in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Hyposegmentation of neutrophil nuclei in CSF", "definition": "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid. [https://orcid.org/0000-0002-8169-9049]"} {"concept_id": "C5139474", "aliases": ["Hypersegmentation of neutrophil nuclei in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Hypersegmentation of neutrophil nuclei in CSF", "definition": "An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid. [https://orcid.org/0000-0002-8169-9049]"} {"concept_id": "C5139475", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urinary 1-methylhistidine concentration", "definition": "Abnormal concentration of 1-methylhistidine in the urine. [https://orcid.org/0000-0002-8169-9049]"} {"concept_id": "C5139476", "aliases": [], "types": ["T033"], "canonical_name": "Decreased urinary 1-methylhistidine", "definition": "Decreased concentration of 1-methylhistidine in the urine. [https://orcid.org/0000-0002-8169-9049]"} {"concept_id": "C5139477", "aliases": ["1-Methylhistidinuria"], "types": ["T033"], "canonical_name": "Increased urinary 1-methylhistidine", "definition": "Increased concentration of 1-methylhistidine in the urine. [https://orcid.org/0000-0002-8169-9049]"} {"concept_id": "C5139478", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urinary 3-methylhistidine level", "definition": "Abnormal amount of 3-methylhistidine in the urine. [https://orcid.org/0000-0002-8169-9049, PMID:6780020, PMID:6790901]"} {"concept_id": "C5139479", "aliases": ["3-Methylhistidinuria"], "types": ["T033"], "canonical_name": "Increased urinary 3-methylhistidine", "definition": "Increased concentration of 3-methylhistidine in the urine. [https://orcid.org/0000-0002-8169-9049, PMID:6780020, PMID:6790901]"} {"concept_id": "C5139480", "aliases": [], "types": ["T033"], "canonical_name": "Decreased urinary 3-methylhistidine", "definition": "Decreased concentration of 3-methylhistidine in the urine. [https://orcid.org/0000-0002-8169-9049, PMID:6790901]"} {"concept_id": "C5139481", "aliases": ["Immunoglobulin E-mediated alpha-gal allergy"], "types": ["T046"], "canonical_name": "IgE-mediated alpha-gal allergy"} {"concept_id": "C5139482", "aliases": ["Immunoglobulin E-mediated animal protein allergy"], "types": ["T046"], "canonical_name": "IgE-mediated animal protein allergy"} {"concept_id": "C5139483", "aliases": ["Immunoglobulin E-mediated animal dander allergy"], "types": ["T047"], "canonical_name": "IgE-mediated animal dander allergy"} {"concept_id": "C5139484", "aliases": ["Bacteria allergy", "Allergy to bacteria"], "types": ["T046"], "canonical_name": "Bacteria allergy", "definition": "Hypersensitivity in form of an adverse immune reaction against bacteria. []"} {"concept_id": "C5139485", "aliases": ["Immunoglobulin E-mediated bacteria allergy"], "types": ["T046"], "canonical_name": "IgE-mediated bacteria allergy"} {"concept_id": "C5139486", "aliases": ["Immunoglobulin E-mediated drug allergy"], "types": ["T047"], "canonical_name": "IgE-mediated drug allergy"} {"concept_id": "C5139487", "aliases": ["Immunoglobulin E-mediated dust mite allergy", "IgE-mediated house dust mite allergy", "Immunoglobulin E-mediated house dust mite allergy"], "types": ["T046"], "canonical_name": "IgE-mediated dust mite allergy"} {"concept_id": "C5139488", "aliases": ["Immunoglobulin E-mediated feather allergy"], "types": ["T046"], "canonical_name": "IgE-mediated feather allergy"} {"concept_id": "C5139489", "aliases": ["Dairy allergy", "Allergy to dairy"], "types": ["T046"], "canonical_name": "Dairy allergy", "definition": "Hypersensitivity in form of an adverse immune reaction against dairy. []"} {"concept_id": "C5139490", "aliases": ["Immunoglobulin E-mediated dairy allergy"], "types": ["T046"], "canonical_name": "IgE-mediated dairy allergy"} {"concept_id": "C5139491", "aliases": ["Immunoglobulin E-mediated egg allergy"], "types": ["T047"], "canonical_name": "IgE-mediated egg allergy"} {"concept_id": "C5139492", "aliases": ["Gluten allergy", "Allergy to gluten"], "types": ["T046"], "canonical_name": "Gluten allergy", "definition": "Hypersensitivity in form of an adverse immune reaction against gluten. []"} {"concept_id": "C5139493", "aliases": ["Immunoglobulin E-mediated gluten allergy"], "types": ["T046"], "canonical_name": "IgE-mediated gluten allergy"} {"concept_id": "C5139494", "aliases": ["Immunoglobulin E-mediated meat allergen allergy"], "types": ["T046"], "canonical_name": "IgE-mediated meat allergen allergy"} {"concept_id": "C5139495", "aliases": ["Immunoglobulin E-mediated nut food product allergy"], "types": ["T047"], "canonical_name": "IgE-mediated nut food product allergy"} {"concept_id": "C5139496", "aliases": ["Allergy to plant based food allergens", "Plant based food allergy"], "types": ["T046"], "canonical_name": "Plant based food allergy", "definition": "Hypersensitivity in form of an adverse immune reaction against plant based food allergens. []"} {"concept_id": "C5139497", "aliases": ["Immunoglobulin E-mediated plant based food allergen allergy"], "types": ["T046"], "canonical_name": "IgE-mediated plant based food allergen allergy"} {"concept_id": "C5139498", "aliases": ["Immunoglobulin E-mediated seafood allergy"], "types": ["T047"], "canonical_name": "IgE-mediated seafood allergy"} {"concept_id": "C5139499", "aliases": ["Immunoglobulin E-mediated fungi allergy"], "types": ["T046"], "canonical_name": "IgE-mediated fungi allergy"} {"concept_id": "C5139500", "aliases": ["Immunoglobulin E-mediated insect allergy"], "types": ["T047"], "canonical_name": "IgE-mediated insect allergy"} {"concept_id": "C5139501", "aliases": ["Immunoglobulin E-mediated venom allergy"], "types": ["T046"], "canonical_name": "IgE-mediated venom allergy"} {"concept_id": "C5139502", "aliases": ["Immunoglobulin E-mediated parasite allergy"], "types": ["T046"], "canonical_name": "IgE-mediated parasite allergy"} {"concept_id": "C5139503", "aliases": ["Allergy to plant products", "Plant product allergy"], "types": ["T046"], "canonical_name": "Plant product allergy", "definition": "Hypersensitivity in form of an adverse immune reaction against plant products. []"} {"concept_id": "C5139504", "aliases": ["Immunoglobulin E-mediated plant product allergy"], "types": ["T046"], "canonical_name": "IgE-mediated plant product allergy"} {"concept_id": "C5139505", "aliases": ["Immunoglobulin E-mediated insect bite allergy"], "types": ["T046"], "canonical_name": "IgE-mediated insect bite allergy"} {"concept_id": "C5139506", "aliases": ["Abnormal circulating heparan sulphate level", "Abnormality of the concentration of heparan sulphate in the blood", "Abnormality of the concentration of heparan sulfate in the blood"], "types": ["T033"], "canonical_name": "Abnormal circulating heparan sulfate level", "definition": "An abnormal level of heparan sulfate in the blood. [https://orcid.org/0000-0001-9969-8610]"} {"concept_id": "C5139507", "aliases": ["Increased blood heparan sulphate concentration", "Increased blood heparan sulfate concentration", "Increased circulating heparan sulphate level"], "types": ["T033"], "canonical_name": "Increased circulating heparan sulfate level", "definition": "An abnormal increase in the concentration of heparan sulfate in the blood. [https://orcid.org/0000-0001-9969-8610, PMID:9692391]"} {"concept_id": "C5139508", "aliases": ["Decreased blood heparan sulphate concentration", "Decreased blood heparan sulfate concentration", "Decreased circulating heparan sulphate level"], "types": ["T033"], "canonical_name": "Decreased circulating heparan sulfate level", "definition": "An abnormal decrease in the concentration of heparan sulfate in the blood. [https://orcid.org/0000-0001-9969-8610, PMID:23514715]"} {"concept_id": "C5139509", "aliases": ["Presence of terminal O-fucose glycans on properdin"], "types": ["T033"], "canonical_name": "Shortened O-fucosylated glycan on properdin", "definition": "Decreased length of O-fucosylated glycans present on properdin. [https://orcid.org/0000-0001-9969-8610, PMID:18199743]"} {"concept_id": "C5139510", "aliases": ["Increased polyhexose concentration in urine"], "types": ["T033"], "canonical_name": "Increased urinary polyhexose", "definition": "An abnormal increase in the concentration of polyhexose in the urine. [https://orcid.org/0000-0001-9969-8610, PMID:23676310]"} {"concept_id": "C5139511", "aliases": ["Increased concentration of galactosylated oligosaccharides in urine"], "types": ["T033"], "canonical_name": "Increased urinary galactosylated oligosaccharide", "definition": "An abnormal increase in the concentration of galactosylated oligosaccharides in urine. [https://orcid.org/0000-0001-9969-8610, PMID:23676310]"} {"concept_id": "C5139512", "aliases": ["Increased concentration of high-mannose-type oligosaccharides in urine"], "types": ["T033"], "canonical_name": "Increased urinary high-mannose-type oligosaccharide", "definition": "An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine. [https://orcid.org/0000-0001-9969-8610, PMID:23676310]"} {"concept_id": "C5139513", "aliases": ["Increase concentration of multiantennary sialylated oligosaccharides in urine"], "types": ["T033"], "canonical_name": "Increased urinary multiantennary sialylated oligosaccharide", "definition": "An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine. [https://orcid.org/0000-0001-9969-8610, PMID:23676310]"} {"concept_id": "C5139514", "aliases": [], "types": ["T033"], "canonical_name": "Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level", "definition": "An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level. [https://orcid.org/0000-0001-9969-8610, PMID:16385447]"} {"concept_id": "C5139515", "aliases": ["Increased concentration of fucosylated oligosaccharides in urine"], "types": ["T033"], "canonical_name": "Increased urinary fucosylated oligosaccharide", "definition": "An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine. [https://orcid.org/0000-0001-9969-8610, PMID:25251875]"} {"concept_id": "C5139516", "aliases": ["Abnormal concentration of complex N-glycans on glycoproteins"], "types": ["T033"], "canonical_name": "Abnormal complex N-glycan level", "definition": "An abnormal concentration of complex N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610]"} {"concept_id": "C5139517", "aliases": ["Increased concentration of complex N-glycans on glycoproteins"], "types": ["T033"], "canonical_name": "Increased complex N-glycan level", "definition": "An abnormal increase in the concentration of complex N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"} {"concept_id": "C5139518", "aliases": ["Increased truncated complex N-glycans on glycoproteins"], "types": ["T033"], "canonical_name": "Decreased complex N-glycan level", "definition": "An abnormal decrease in the concentration of complex N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:21385794]"} {"concept_id": "C5139519", "aliases": ["Increased concentration of sialylated N-glycans on glycoproteins"], "types": ["T033"], "canonical_name": "Increased sialylated N-glycan level", "definition": "An abnormal increase in the concentration of sialylated N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"} {"concept_id": "C5139520", "aliases": ["Decreased concentration of sialylated N-glycans on glycoproteins"], "types": ["T033"], "canonical_name": "Decreased sialylated N-glycan level", "definition": "An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:23430903]"} {"concept_id": "C5139521", "aliases": ["Abnormal high-mannose N-glycans on glycoprotein concentration"], "types": ["T033"], "canonical_name": "Abnormal high-mannose N-glycan level", "definition": "An abnormal concentration of high-mannose N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610]"} {"concept_id": "C5139522", "aliases": ["Increased high-mannose N-glycans on glycoprotein concentration"], "types": ["T033"], "canonical_name": "Increased high-mannose N-glycan level", "definition": "An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:23928051]"} {"concept_id": "C5139523", "aliases": ["Decreased high-mannose N-glycans on glycoprotein concentration"], "types": ["T033"], "canonical_name": "Decreased high-mannose N-glycan level", "definition": "An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"} {"concept_id": "C5139524", "aliases": ["Abnormal concentration of T-antigen"], "types": ["T033"], "canonical_name": "Abnormal core 1 O-glycan level", "definition": "An abnormal in the concentration of core 1 O-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610]"} {"concept_id": "C5139525", "aliases": ["Increased T-antigen concentration"], "types": ["T033"], "canonical_name": "Increased core 1 O-glycan level", "definition": "An abnormal increase in the concentration of core 1 O-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:14578315]"} {"concept_id": "C5139526", "aliases": ["Decreased T-antigen concentration"], "types": ["T033"], "canonical_name": "Decreased core 1 O-glycan level", "definition": "An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"} {"concept_id": "C5139527", "aliases": ["Increased sialyl T-antigen concentration"], "types": ["T033"], "canonical_name": "Increased monosialylated core 1 O-glycan level", "definition": "An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:25142811]"} {"concept_id": "C5139528", "aliases": ["Decreased sialyl T-antigen concentration"], "types": ["T033"], "canonical_name": "Decreased monosialylated core 1 O-glycan level", "definition": "An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"} {"concept_id": "C5139529", "aliases": ["Increased disialyl T-antigen concentration"], "types": ["T033"], "canonical_name": "Increased disialylated core 1 O-glycan level", "definition": "An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"} {"concept_id": "C5139530", "aliases": ["Increased globoside Gb4 concentration"], "types": ["T033"], "canonical_name": "Increased globoside Gb4 level", "definition": "An abnormal increase in the concentration of globoside Gb4. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"} {"concept_id": "C5139531", "aliases": ["Increased globoside Gb3 concentration"], "types": ["T033"], "canonical_name": "Increased globoside Gb3 level", "definition": "An abnormal increase in the concentration of glycolipid globoside Gb3. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"} {"concept_id": "C5139532", "aliases": [], "types": ["T033"], "canonical_name": "Absence of ganglioside GM3", "definition": "The absence of ganglioside GM3. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"} {"concept_id": "C5139533", "aliases": ["Increased O-GalNac on glycoprotein concentration"], "types": ["T033"], "canonical_name": "Increased Tn-antigen level", "definition": "An abnormal increase in the concentration of Tn antigen on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:16251947]"} {"concept_id": "C5139534", "aliases": ["Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells", "Abnormal proportion of CD4+CD45RA+ cells"], "types": ["T033"], "canonical_name": "Abnormal proportion of naive CD4 T cells", "definition": "Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells. [PMID:22474485]"} {"concept_id": "C5139535", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal proportion of naive CD8 T cells", "definition": "Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells. [PMID:26700072]"} {"concept_id": "C5139536", "aliases": ["Increased proportion of CD4+CD45RA+ cells", "Elevated proportion of naive CD4 T cells", "Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells"], "types": ["T033"], "canonical_name": "Increased proportion of naive CD4 T cells"} {"concept_id": "C5139537", "aliases": ["Elevated proportion of naive CD8 T cells", "Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells"], "types": ["T033"], "canonical_name": "Increased proportion of naive CD8 T cells", "definition": "An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells. [PMID:26700072]"} {"concept_id": "C5139538", "aliases": ["Reduced proportion of naive CD8 T cells", "Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells"], "types": ["T033"], "canonical_name": "Decreased proportion of naive CD8 T cells", "definition": "An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells. [PMID:26700072]"} {"concept_id": "C5139539", "aliases": ["Reduced proportion of naive CD4 T cells", "Decreased proportion of CD4+CD45RA+ cells", "Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells"], "types": ["T033"], "canonical_name": "Decreased proportion of naive CD4 T cells", "definition": "An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells. [PMID:22474485]"} {"concept_id": "C5139540", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal proportion of CD4-positive, alpha-beta memory T cells", "definition": "An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. [CL:0000897]"} {"concept_id": "C5139541", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal proportion of CD8-positive, alpha-beta memory T cells", "definition": "An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. [PMID:20146720, PMID:28481945]"} {"concept_id": "C5139542", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal proportion of central memory CD4-positive, alpha-beta T cells", "definition": "An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:22343568]"} {"concept_id": "C5139544", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal proportion of effector memory CD8-positive, alpha-beta T cells", "definition": "An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:20146720, PMID:22343568]"} {"concept_id": "C5139545", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal proportion of central memory CD8-positive, alpha-beta T cells", "definition": "An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:20146720, PMID:22343568]"} {"concept_id": "C5139546", "aliases": [], "types": ["T033"], "canonical_name": "Decreased proportion of CD8-positive, alpha-beta memory T cells", "definition": "Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. [PMID:20146720]"} {"concept_id": "C5139547", "aliases": [], "types": ["T033"], "canonical_name": "Decreased proportion of CD4-positive, alpha-beta memory T cells", "definition": "Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. [CL:0000897]"} {"concept_id": "C5139549", "aliases": ["Decreased proportion of CD4-positive central memory cells", "Decreased proportion of CD4+ central memory cells", "Decreased proportion of central memory CD4+, alpha-beta T cell", "Reduced proportion of CD4+ central memory cells"], "types": ["T033"], "canonical_name": "Decreased proportion of central memory CD4-positive, alpha-beta T cells", "definition": "A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:22343568]"} {"concept_id": "C5139550", "aliases": [], "types": ["T033"], "canonical_name": "Decreased proportion of central memory CD8-positive, alpha-beta T cells", "definition": "A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:20146720, PMID:22343568]"} {"concept_id": "C5139551", "aliases": [], "types": ["T033"], "canonical_name": "Decreased proportion of effector memory CD8-positive, alpha-beta T cells", "definition": "A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:20146720, PMID:22343568]"} {"concept_id": "C5139552", "aliases": [], "types": ["T033"], "canonical_name": "Increased proportion of CD4-positive, alpha-beta memory T cells", "definition": "An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. [CL:0000897]"} {"concept_id": "C5139553", "aliases": [], "types": ["T033"], "canonical_name": "Increased proportion of CD8-positive, alpha-beta memory T cells", "definition": "An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. [PMID:20146720]"} {"concept_id": "C5139554", "aliases": ["Elevated proportion central memory CD4-positive, alpha-beta T cells", "Increased proportion of CD4+ central memory cells", "Elevated proportion of CD4+ central memory cells", "Increased proportion of central memory CD4+, alpha-beta T cell"], "types": ["T033"], "canonical_name": "Increased proportion of central memory CD4-positive, alpha-beta T cells", "definition": "An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:22343568]"} {"concept_id": "C5139555", "aliases": [], "types": ["T033"], "canonical_name": "Increased proportion of effector memory CD4-positive, alpha-beta T cells", "definition": "An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:22343568]"} {"concept_id": "C5139556", "aliases": [], "types": ["T033"], "canonical_name": "Increased proportion of effector memory CD8-positive, alpha-beta T cells", "definition": "An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:20146720, PMID:22343568]"} {"concept_id": "C5139557", "aliases": [], "types": ["T033"], "canonical_name": "Increased proportion of central memory CD8-positive, alpha-beta T cells", "definition": "An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:20146720, PMID:22343568]"} {"concept_id": "C5139558", "aliases": ["Absence of sebaceous glands"], "types": ["T190"], "canonical_name": "Absent sebaceous glands", "definition": "Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts. [MP:0000647]"} {"concept_id": "C5139559", "aliases": [], "types": ["T033"], "canonical_name": "Worse in evening", "definition": "Applies to a sign or symptom that is exacerbated in the evening as compared to the day. [https://orcid.org/0000-0002-0736-9199]"} {"concept_id": "C5139560", "aliases": ["Abnormal circulating aspartate concentration"], "types": ["T033"], "canonical_name": "Abnormal circulating aspartic acid concentration", "definition": "Any deviation from the normal concentration of aspartate in the blood circulation. [ORCID:0000-0001-7941-2961]"} {"concept_id": "C5139561", "aliases": ["Low blood ornithine levels", "Decreased blood ornithine concentrations"], "types": ["T033"], "canonical_name": "Hypoornithinemia", "definition": "An abnormal decrease in ornithine in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C5139562", "aliases": ["Abnormal CO2 levels in blood", "Abnormal blood carbon dioxide level"], "types": ["T033"], "canonical_name": "Abnormal blood carbon dioxide level", "definition": "An abnormality of carbon dioxide (CO2) in the arterial blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C5139563", "aliases": ["Abnormal circulating gastrin level"], "types": ["T033"], "canonical_name": "Abnormal circulating gastrin concentration", "definition": "An abnormal concentration of gastrin in the blood. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C5139564", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal concentration of acylcarnitine in the urine", "definition": "An abnormal amount of acylcarnitine in the urine. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C5139565", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating amino sulfonic acid concentration"} {"concept_id": "C5139566", "aliases": ["Elevated serum taurine levels", "Increased circulating taurine levels in the blood"], "types": ["T033"], "canonical_name": "Hypertaurinemia", "definition": "An increased amount of taurine in the blood. []"} {"concept_id": "C5139567", "aliases": ["Lower blood levels of taurine", "Decreased circulating taurine levels", "Reduced taurine levels in the blood"], "types": ["T033"], "canonical_name": "Hypotaurinemia", "definition": "A decreased amount of taurine in the blood. []"} {"concept_id": "C5139568", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal CSF carboxylic acid concentration", "definition": "Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid. []"} {"concept_id": "C5139569", "aliases": ["Abnormal CSF amino acid level", "Abnormal amino acid levels in cerebrospinal fluid", "Abnormal cerebrospinal fluid amino acid level"], "types": ["T033"], "canonical_name": "Abnormal CSF amino acid concentration", "definition": "Any deviation from the normal concentration of amino acids in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139570", "aliases": ["Abnormal branched-chain amino acid levels in cerbrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF branched chain amino acid concentration", "definition": "Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139571", "aliases": ["Abnormal valine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF valine concentration", "definition": "Any deviation from the normal concentration of valine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139572", "aliases": ["High valine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF valine concentration", "definition": "Any increased amount from normal of valine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139573", "aliases": ["Low valine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased CSF valine concentration", "definition": "Any decreased amount from normal of valine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139574", "aliases": ["Abnormal leucine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF leucine concentration", "definition": "Any deviation from the normal concentration of leucine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139575", "aliases": ["Low leucine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased CSF leucine concentration", "definition": "Abnormally decreased levels of leucine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139576", "aliases": ["High leucine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF leucine concentration", "definition": "Abnormally increased levels of leucine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139577", "aliases": ["Abnormal isoleucine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF isoleucine concentration", "definition": "Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139578", "aliases": ["High levels of isoleucine in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF isoleucine concentration", "definition": "Abnormally increased levels of isoleucine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139579", "aliases": ["Low levels of isoleucine in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased CSF isoleucine concentration", "definition": "Abnormally decreased levels of isoleucine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139580", "aliases": ["Abnormal glutamine family amino acid levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF glutamine family amino acid concentration", "definition": "Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139581", "aliases": ["Abnormal glutamine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF glutamine concentration", "definition": "Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139582", "aliases": ["High glutamine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF glutamine concentration", "definition": "Abnormally increased levels of glutamine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139583", "aliases": ["Low glutamine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased CSF glutamine concentration", "definition": "Abnormally decreased levels of glutamine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139584", "aliases": ["Abnormal glutamic acid levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF glutamate concentration", "definition": "Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139585", "aliases": ["High glutamic acid levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF glutamate concentration", "definition": "Abnormally increased levels of glutamic acid in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139586", "aliases": ["Low glutamic acid levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased CSF glutamate concentration", "definition": "Abnormally decreased levels of glutamic acid in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139587", "aliases": ["Abnormal arginine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF arginine concentration", "definition": "Any deviation from the normal concentration of arginine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139588", "aliases": ["High arginine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF arginine concentration", "definition": "Abnormally increased levels of arginine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139589", "aliases": ["Low arginine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased CSF arginine concentration", "definition": "Abnormally decreased levels of arginine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139590", "aliases": ["Abnormal aspartate-family amino acid levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF aspartate family amino acid concentration", "definition": "Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139591", "aliases": ["Abnormal lysine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF lysine concentration", "definition": "Any deviation from the normal concentration of lysine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139592", "aliases": ["Low lysine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased CSF lysine concentration", "definition": "Abnormally decreased levels of lysine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139593", "aliases": ["High lysine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF lysine concentration", "definition": "Abnormally increased levels of lysine in cerebrospinal fluid. []"} {"concept_id": "C5139594", "aliases": ["Abnormal methionine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF methionine concentration", "definition": "Any deviation from the normal concentration of methionine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139595", "aliases": ["High methionine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF methionine concentration", "definition": "Abnormally increased levels of methionine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139596", "aliases": ["Abnormal threonine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF threonine concentration", "definition": "Any deviation from the normal concentration of threonine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139597", "aliases": ["High threonine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF threonine concentration", "definition": "Abnormally increased levels of threonine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139598", "aliases": ["Low threonine levels in the cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased CSF threonine concentration", "definition": "Abnormally decreased levels of threonine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139599", "aliases": ["Abnormal aromatic amino acid levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF aromatic amino acid concentration", "definition": "Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139600", "aliases": ["Abnormal phenylalanine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF phenylalanine concentration", "definition": "Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139601", "aliases": ["Abnormal CSF aspartic acid concentration", "Abnormal aspartic acid levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF aspartate concentration", "definition": "Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid. []"} {"concept_id": "C5139602", "aliases": ["High aspartic acid levels in cerebrospinal fluid", "Increased CSF aspartic acid concentration"], "types": ["T033"], "canonical_name": "Increased CSF aspartate concentration", "definition": "Abnormally increased levels of aspartic acid in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139603", "aliases": ["Abnormal tryptophan levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF tryptophan concentration", "definition": "Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139604", "aliases": ["Abnormal tyrosine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF tyrosine concentration", "definition": "Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139605", "aliases": ["High tyrosine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF tyrosine concentration", "definition": "Abnormally increased levels of tyrosine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139606", "aliases": ["Low tyrosine levels in the cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased CSF tyrosine concentration", "definition": "Abnormally decreased levels of tyrosine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139607", "aliases": ["High tryptophan levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF tryptophan concentration", "definition": "Abnormally increased levels of tryptophan in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139608", "aliases": ["High phenylalanine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF phenylalanine concentration", "definition": "Abnormally increased levels of phenylalanine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139609", "aliases": ["Low phenylalanine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased CSF phenylalanine concentration", "definition": "Abnormally decreased levels of phenylalanine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139610", "aliases": ["Abnormal serine-family amino acid levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF serine family amino acid concentration", "definition": "Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139611", "aliases": ["Abnormal serine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF serine concentration", "definition": "Any deviation from the normal concentration of serine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139612", "aliases": ["High serine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF serine concentration", "definition": "Abnormally increased levels of serine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139613", "aliases": ["Low serine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased CSF serine concentration", "definition": "Abnormally decreased levels of serine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139614", "aliases": ["Abnormal glycine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF glycine concentration", "definition": "Any deviation from the normal concentration of glycine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139615", "aliases": ["High glycine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF glycine concentration", "definition": "Abnormally increased levels of glycine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139616", "aliases": ["Abnormal pyruvate-family amino acid levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF pyruvate family amino acid concentration", "definition": "Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid. []"} {"concept_id": "C5139617", "aliases": ["Abnormal alanine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF alanine concentration", "definition": "Any deviation from the normal concentration of alanine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139618", "aliases": ["High alanine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF alanine concentration", "definition": "Abnormally increased levels of alanine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139619", "aliases": ["Low alanine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased CSF alanine concentration", "definition": "Abnormally decreased levels of alanine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139620", "aliases": ["Abnormal histidine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF histidine concentration", "definition": "Any deviation from the normal concentration of histidine in the cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139621", "aliases": ["High histidine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF histidine concentration", "definition": "Abnormally increased levels of histidine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139622", "aliases": ["Low histidine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Decreased CSF histidine concentration", "definition": "Abnormally decreased levels of histidine in cerebrospinal fluid. [PMID:715764]"} {"concept_id": "C5139623", "aliases": ["Abnormal albumin levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF albumin concentration", "definition": "Any deviation from the normal concentration of albumin in the cerebrospinal fluid. [PMID:27067000]"} {"concept_id": "C5139624", "aliases": ["High albumin levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF albumin concentration"} {"concept_id": "C5139625", "aliases": ["Abnormal carnosine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF carnosine concentration", "definition": "Any deviation from the normal concentration of carnosine in the cerebrospinal fluid. [PMID:16341596]"} {"concept_id": "C5139626", "aliases": ["Abnormal homocarnosine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF homocarnosine concentration", "definition": "Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid. [PMID:16341596]"} {"concept_id": "C5139627", "aliases": ["High homocarnosine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF homocarnosine concentration", "definition": "Abnormally increased levels of homocarnosine in cerebrospinal fluid. [PMID:16341596]"} {"concept_id": "C5139628", "aliases": ["Abnormal ornithine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF ornithine concentration", "definition": "Any deviation from the normal concentration of ornithine in the cerebrospinal fluid. [PMID:20551690]"} {"concept_id": "C5139629", "aliases": ["High ornithine levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF ornithine concentration", "definition": "Abnormally increased levels of ornithine in cerebrospinal fluid. [PMID:20551690]"} {"concept_id": "C5139630", "aliases": ["Abnormal citrulline levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF citrulline concentration", "definition": "Any deviation from the normal concentration of citrulline in the cerebrospinal fluid. [PMID:16793028]"} {"concept_id": "C5139631", "aliases": ["High citrulline levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF citrulline concentration", "definition": "Abnormally increased levels of citrulline in cerebrospinal fluid. [PMID:16793028]"} {"concept_id": "C5139632", "aliases": ["Abnormal alpha-aminobutyrate levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Abnormal CSF alpha-aminobutyrate concentration", "definition": "Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid. [PMID:3397910]"} {"concept_id": "C5139633", "aliases": ["High alpha-aminobutyrate levels in cerebrospinal fluid"], "types": ["T033"], "canonical_name": "Increased CSF alpha-aminobutyrate concentration", "definition": "Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid. [PMID:3397910]"} {"concept_id": "C5139634", "aliases": ["Abnormal ethanolamine levels in the blood"], "types": ["T033"], "canonical_name": "Abnormal circulating ethanolamine concentration", "definition": "Any deviation from the normal concentration of ethanolamine in circulation. [PMID:28785375]"} {"concept_id": "C5139635", "aliases": ["High ethanolamine levels in the blood"], "types": ["T033"], "canonical_name": "Increased circulating ethanolamine concentration", "definition": "Abnormally increased levels of ethanolamine in circulation. [PMID:28785375]"} {"concept_id": "C5139636", "aliases": ["Abnormal urine decanedioic acid concentration"], "types": ["T033"], "canonical_name": "Abnormal urine sebacic acid concentration", "definition": "Abnormal concentration of sebacic acid in the urine. [PMID:25051233]"} {"concept_id": "C5139637", "aliases": ["Increased urine decanedioic acid concentration"], "types": ["T033"], "canonical_name": "Increased urine sebacic acid concentration", "definition": "Elevated concentration of sebacic acid in the urine. [PMID:25051233]"} {"concept_id": "C5139638", "aliases": ["Abnormal urinary N-hexanoylglycine levels"], "types": ["T033"], "canonical_name": "Abnormal urine hexanoylglycine concentration", "definition": "Abnormal concentration of hexanoylglycine in the urine. [PMID:2775902]"} {"concept_id": "C5139639", "aliases": ["Elevated urinary N-hexanoylglycine concentration"], "types": ["T033"], "canonical_name": "Increased level of hexanoylglycine in urine", "definition": "Elevated concentration of hexanoylglycine in the urine. [PMID:2775902]"} {"concept_id": "C5139640", "aliases": ["Abnormal urinary isobutyrylglycine levels"], "types": ["T033"], "canonical_name": "Abnormal urine isobutyrylglycine concentration", "definition": "Abnormal concentration of isobutyrylglycine in the urine. [PMID:28053874]"} {"concept_id": "C5139641", "aliases": ["High urinary isobutyrylglycine levels"], "types": ["T033"], "canonical_name": "Increased urine isobutyrylglycine concentration", "definition": "Elevated concentration of isobutyrylglycine in the urine. [PMID:28053874]"} {"concept_id": "C5139642", "aliases": ["Abnormal CO2 level in cord blood", "Abnormal umbilical cord blood levels of carbon dioxide"], "types": ["T033"], "canonical_name": "Abnormal carbon dioxide level in cord blood", "definition": "Abnormal amount of carbon dioxide in umbilical cord blood []"} {"concept_id": "C5139643", "aliases": ["Abnormal O2 level in cord blood", "Abnormal cord blood oxygen levels", "Abnormal oxygen amount in umbilical cord blood"], "types": ["T033"], "canonical_name": "Abnormal oxygen level in cord blood", "definition": "An abnormal level of blood oxygen in the cord blood. []"} {"concept_id": "C5139644", "aliases": ["Head trauma triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by head trauma", "definition": "Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma. []"} {"concept_id": "C5139645", "aliases": ["Anesthetics trigger episodes", "Anaesthetics trigger episodes", "Anaesthetics triggered symptoms", "Triggered by anaesthetics", "Anesthetics triggered symptoms"], "types": ["T033"], "canonical_name": "Triggered by anesthetics", "definition": "Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics. []"} {"concept_id": "C5139646", "aliases": [], "types": ["T047"], "canonical_name": "Post-vaccination rubella", "definition": "Infection with the rubella virus of the live-attenuated vaccine. []"} {"concept_id": "C5139647", "aliases": [], "types": ["T047"], "canonical_name": "Severe giardiasis", "definition": "An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide. [PMID:11148005, PMID:17042927]"} {"concept_id": "C5139648", "aliases": [], "types": ["T033"], "canonical_name": "Noncancerous growth of membranes covering brain"} {"concept_id": "C5139649", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating sarcosine concentration", "definition": "An deviation from the normal concentration of sarcosine in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139650", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating long-chain fatty-acid concentration", "definition": "Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation. [HPO:probinson]"} {"concept_id": "C5139651", "aliases": ["Elevated faecal pH"], "types": ["T033"], "canonical_name": "Elevated fecal pH", "definition": "Abnormally high fecal pH, i.e., abnormal alkalinity of feces. []"} {"concept_id": "C5139652", "aliases": [], "types": ["T033"], "canonical_name": "Increased HDL2a concentration", "definition": "An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. [PMID:17291473]"} {"concept_id": "C5139653", "aliases": [], "types": ["T033"], "canonical_name": "Fever improves condition"} {"concept_id": "C5139654", "aliases": [], "types": ["T034"], "canonical_name": "Anti-myelin-associated glycoprotein antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG). [PMID:16969155]"} {"concept_id": "C5139655", "aliases": ["Decreased IgG subclass level in blood"], "types": ["T033"], "canonical_name": "Decreased circulating IgG subclass level", "definition": "A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood. [PMID:17910333]"} {"concept_id": "C5192444", "aliases": [], "types": ["T047"], "definition": "A separation (dissection) of the layers of the celiac artery wall. [PMID:32938213]", "canonical_name": "Celiac artery dissection"} {"concept_id": "C5194070", "aliases": [], "types": ["T019"], "definition": "A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline. [HPO:probinson, PMID:19152422]", "canonical_name": "Proboscis"} {"concept_id": "C5194130", "aliases": [], "types": ["T047"], "canonical_name": "Palmoplantar hypohidrosis", "definition": "Decreased sweating on the palms and soles. [PMID:24664640]"} {"concept_id": "C5194182", "aliases": ["Microcytic anaemia"], "types": ["T047"], "definition": "Anemia in which the red blood cell volume is decreased.", "canonical_name": "Microcytic anemia"} {"concept_id": "C5194606", "aliases": [], "types": ["T047"], "definition": "The presence of dysplastic regions in metaphyseal regions. [HPO:sdoelken]", "canonical_name": "Metaphyseal dysplasia"} {"concept_id": "C5194758", "aliases": ["Absent left hemidiaphragm", "Left diaphragmatic hernia"], "types": ["T033"], "canonical_name": "Aplasia of the left hemidiaphragm", "definition": "Congenital absence of the left half of the diaphragm. [HPO:probinson]"} {"concept_id": "C5194784", "aliases": ["Prednisone-responsive anaemia", "Prednisone-responsive anemia", "Steroid-responsive anaemia"], "types": ["T047"], "canonical_name": "Steroid-responsive anemia", "definition": "Amelioration of anemia upon treatment with a steroid medication. [PMID:20651069]"} {"concept_id": "C5195051", "aliases": ["Tortuous vertebral arteries"], "types": ["T190"], "canonical_name": "Vertebral artery tortuosity", "definition": "Abnormal tortuous (i.e., twisted) form of the vertebral arteries. []"} {"concept_id": "C5200994", "aliases": ["Increased circulating prolactin concentration", "Hyperprolactinaemia", "Prolactin excess"], "types": ["T033"], "definition": "Abnormally high level of prolactin in the blood.", "canonical_name": "Hyperprolactinemia"} {"concept_id": "C5201036", "aliases": [], "types": ["T034"], "definition": "A lower than average level of platelets in a sample.", "canonical_name": "Low platelet count"} {"concept_id": "C5201048", "aliases": ["Complete achromatopsia"], "types": ["T047"], "definition": "Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. [DDD:gblack]", "canonical_name": "Monochromacy"} {"concept_id": "C5201144", "aliases": [], "types": ["T033"], "canonical_name": "Sparse axillary and pubic hair"} {"concept_id": "C5203015", "aliases": ["Fractured epiphysis"], "types": ["T037"], "definition": "A partial or complete breakage of the epiphysis. []", "canonical_name": "bone epiphysis"} {"concept_id": "C5208041", "aliases": ["Increased urinary NGAL"], "types": ["T033"], "canonical_name": "Increased urinary neutrophil gelatinase-associated lipocalin", "definition": "An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter). [PMID:18725016]"} {"concept_id": "C5209218", "aliases": [], "types": ["T033"], "canonical_name": "Sparse scalp, axillary, and pubic hair"} {"concept_id": "C5209219", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of circulating adrenocorticotropic hormone level"} {"concept_id": "C5209220", "aliases": [], "types": ["T033"], "canonical_name": "Hypoplastic dermoepidermal hemidesmosomes", "definition": "Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. [PMID:11851880, PMID:25487405]"} {"concept_id": "C5209221", "aliases": [], "types": ["T019"], "canonical_name": "Radial artery aplasia", "definition": "Congenital absence of the radial artery. [PMID:24650137]"} {"concept_id": "C5209222", "aliases": ["Abnormal retinal nerve fibre layer morphology"], "types": ["T190"], "canonical_name": "Abnormal retinal nerve fiber layer morphology", "definition": "A structural abnormality of the retinal nerve fiber layer []"} {"concept_id": "C5209223", "aliases": ["Retinal nerve fibre oedema"], "types": ["T046"], "canonical_name": "Retinal nerve fiber edema", "definition": "Swelling (edema) of the retinal nerve fibers. []"} {"concept_id": "C5209224", "aliases": [], "types": ["T033"], "canonical_name": "Conception by assisted reproductive technology", "definition": "A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation. [PMID:28844405]"} {"concept_id": "C5209225", "aliases": ["Conjunctival avascular cysts (filtering blebs)", "Spontaneous filtering bleb"], "types": ["T190"], "canonical_name": "Spontaneous conjunctival filtering bleb", "definition": "Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma. [PMID:24768550, PMID:8749053]"} {"concept_id": "C5209226", "aliases": [], "types": ["T033"], "canonical_name": "Periarticular soft-tissue mass", "definition": "A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. []"} {"concept_id": "C5209227", "aliases": [], "types": ["T019"], "canonical_name": "Aplasia of the olfactory tract", "definition": "Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell. [ORCID:0000-0001-5208-3432, PMID:27863011]"} {"concept_id": "C5209228", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urine protein level", "definition": "Any deviation of the concentration of one or more proteins in the urine. []"} {"concept_id": "C5209229", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal tubular basement membrane morphology", "definition": "Abnormal structure of the basement membrane of the renal tubulus. []"} {"concept_id": "C5209230", "aliases": ["Glomerular visceral epithelial cell hypertrophy", "Hypertrophy of visceral epithelial cells"], "types": ["T033"], "canonical_name": "Podocyte hypertrophy", "definition": "Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. [PMID:15610239, PMID:32866505]"} {"concept_id": "C5209231", "aliases": [], "types": ["T033"], "canonical_name": "Increased urine neutrophil count", "definition": "Abnormally increased count of neutrophils in urine. [JGM:lccarmody]"} {"concept_id": "C5209232", "aliases": [], "types": ["T034"], "canonical_name": "Anticardiolipin IgG antibody positivity", "definition": "The presence of circulating IgG autoantibodies to cardiolipin. [PMID:30256771]"} {"concept_id": "C5209233", "aliases": [], "types": ["T034"], "canonical_name": "Anticardiolipin IgM antibody positivity", "definition": "The presence of circulating IgM autoantibodies to cardiolipin. [PMID:30256771]"} {"concept_id": "C5209234", "aliases": [], "types": ["T033"], "canonical_name": "History of recent animal bite", "definition": "Medical history of a recent bite injury due to an animal. [PMID:26179017]"} {"concept_id": "C5209235", "aliases": [], "types": ["T033"], "canonical_name": "History of recent insect bite", "definition": "Medical history of a recent bite injury due to an insect. [PMID:24364549]"} {"concept_id": "C5209236", "aliases": [], "types": ["T033"], "canonical_name": "History of recent tick bite", "definition": "Medical history of a recent bite injury due to a tick. [PMID:24364549]"} {"concept_id": "C5209237", "aliases": ["Blood pressure substantially higher in lower than upper extremities", "Blood pressure substantially lower in upper than lower extremities", "Blood pressure substantially lower in arms than legs"], "types": ["T033"], "canonical_name": "Blood pressure substantially higher in legs than arms", "definition": "An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. [PMID:12101189]"} {"concept_id": "C5209238", "aliases": ["Increased arm-leg blood pressure gradient", "Blood pressure substantially higher in upper than lower extremities"], "types": ["T033"], "canonical_name": "Blood pressure substantially higher in arms than legs", "definition": "An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. [PMID:28377475]"} {"concept_id": "C5209239", "aliases": [], "types": ["T190"], "canonical_name": "Tracheal duplication cyst", "definition": "A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium. [PMID:25313910]"} {"concept_id": "C5209240", "aliases": [], "types": ["T033"], "canonical_name": "Calcium phosphate crystalluria", "definition": "The presence of calcium phosphate crystals in the urine. [PMID:26509782, PMID:3599249, PMID:8671802]"} {"concept_id": "C5209241", "aliases": [], "types": ["T033"], "canonical_name": "Calcium oxalate crystalluria", "definition": "The presence of calcium oxalate crystals in the urine. [PMID:26509782, PMID:3599249, PMID:8671802]"} {"concept_id": "C5209242", "aliases": [], "types": ["T033"], "canonical_name": "Calcium carbonate crystalluria", "definition": "The presence of calcium carbonate crystals in the urine. [PMID:26509782, PMID:8671802]"} {"concept_id": "C5209243", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating mead acid level", "definition": "An abnormally elevated concentration od mead acid in the blood circulation. [PMID:25440954]"} {"concept_id": "C5209244", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating succinate", "definition": "An increase concentration of succinate in the blood circulation. [PMID:29434314]"} {"concept_id": "C5209245", "aliases": ["Elevated urinary Tamm-Horsfall protein concentration"], "types": ["T033"], "canonical_name": "Elevated urinary uromodulin", "definition": "An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine. [PMID:28781372]"} {"concept_id": "C5209247", "aliases": [], "types": ["T034"], "canonical_name": "Positive blood 1,3 beta glucan test", "definition": "Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis. [PMID:27475024]"} {"concept_id": "C5209248", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal oocyte morphology", "definition": "An abnormal structure of the female germ cell (egg cell). []"} {"concept_id": "C5209249", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal zona pellucida morphology", "definition": "Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida. [PMID:26329136]"} {"concept_id": "C5209250", "aliases": [], "types": ["T033"], "canonical_name": "Thin zona pellucida", "definition": "Reduced thickness of the zona pellucida. [PMID:7657763]"} {"concept_id": "C5209251", "aliases": ["Increased circulating docosatetraenoate level"], "types": ["T033"], "canonical_name": "Increased circulating adrenic acid concentration", "definition": "An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation. [PMID:28456640, UCDenver:tjcallahan]"} {"concept_id": "C5209252", "aliases": ["Reduce response to GnRH stimulation test"], "types": ["T033"], "canonical_name": "Reduced response to gonadotropin-releasing hormone stimulation test", "definition": "Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels. [PMID:22723321]"} {"concept_id": "C5209253", "aliases": [], "types": ["T033"], "canonical_name": "GM1-ganglioside accumulation", "definition": "Cellular accumulation of GM1 gangliosides. [PMID:9063740]"} {"concept_id": "C5209254", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal drug response", "definition": "An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy. [ORCID:0000-0002-7440-8864, PMID:16948615]"} {"concept_id": "C5209255", "aliases": ["Increased serum drug concentration", "Increased plasma drug concentration", "Elevated serum drug concentrations", "Elevated plasma drug concentration", "Elevated blood drug concentration"], "types": ["T033"], "canonical_name": "Increased blood drug concentration", "definition": "High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. [ORCID:0000-0002-7440-8864, PMID:26075072]"} {"concept_id": "C5209256", "aliases": ["Decreased serum drug concentration", "Decreased plasma drug concentration", "Reduced blood drug concentration", "Reduced serum drug concentrations", "Reduced plasma drug concentration"], "types": ["T033"], "canonical_name": "Decreased blood drug concentration", "definition": "Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. [ORCID:0000-0002-7440-8864, PMID:26075072]"} {"concept_id": "C5209257", "aliases": ["Decreased drug efficacy"], "types": ["T033"], "canonical_name": "Reduced drug efficacy", "definition": "Decreased response to a drug intervention in comparison to the expected response. [ORCID:0000-0002-7440-8864, PMID:26178435]"} {"concept_id": "C5209258", "aliases": [], "types": ["T033"], "canonical_name": "Reduced cholinesterase level", "definition": "A decreased amount of cholinesterase in the blood circulation. [PMID:29853783, UCDenver:tjcallahan]"} {"concept_id": "C5209259", "aliases": [], "types": ["T033"], "canonical_name": "Cholesterol crystalluria"} {"concept_id": "C5209260", "aliases": ["Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated"], "types": ["T033"], "canonical_name": "Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells", "definition": "An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. []"} {"concept_id": "C5209261", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal dendritic cell count", "definition": "A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). [CL:0000451, PMID:15795906]"} {"concept_id": "C5209262", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal haptoglobin level", "definition": "A deviation from the normal concentration of haptoglobin in the blood circulation. [PMID:24809098]"} {"concept_id": "C5209263", "aliases": [], "types": ["T033"], "canonical_name": "Elevated haptoglobin level", "definition": "An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation. [PMID:24809098]"} {"concept_id": "C5209264", "aliases": [], "types": ["T033"], "canonical_name": "Reduced haptoglobin level", "definition": "An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state. [PMID:24809098]"} {"concept_id": "C5209265", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal A-type atrial natriuretic peptide level", "definition": "A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. [PMID:28552863, RGD:SJWang]"} {"concept_id": "C5209266", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating A-type natriuretic peptide level", "definition": "A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. [PMID:28552863, RGD:SJWang]"} {"concept_id": "C5209267", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating A-type natriuretic peptide level", "definition": "A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. [PMID:28552863, RGD:SJWang]"} {"concept_id": "C5209268", "aliases": [], "types": ["T190"], "canonical_name": "Superior cerebellar dysplasia", "definition": "Abnormal morphological development of the superior part of the cerebellum. []"} {"concept_id": "C5209269", "aliases": ["Pachygyria with cortical thickness above 10 mm", "Pachygyria with cortical thickness > 10 mm"], "types": ["T019"], "canonical_name": "Thick pachygyria", "definition": "Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. [PMID:28440899]"} {"concept_id": "C5209270", "aliases": [], "types": ["T019"], "canonical_name": "Anterior predominant pachygyria with 5-10 mm cortical thickness", "definition": "Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. [COST:neuromig, PMID:28440899]"} {"concept_id": "C5209271", "aliases": ["Pachygyria with cortical thickness over 10 mm posterior predominant", "Occipital predomimant classic pachygyria"], "types": ["T019"], "canonical_name": "Posterior predominant thick cortex pachygyria", "definition": "Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. [COST:neuromig, PMID:28440899]"} {"concept_id": "C5209272", "aliases": ["Pachygyria with cortical thickness > 10 mm perisylvian predominant"], "types": ["T019"], "canonical_name": "Perisylvian predominant thick cortex pachygyria", "definition": "Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. [COST:neuromig, PMID:28440899]"} {"concept_id": "C5209273", "aliases": ["Pachygyria with cortical thickness > 10 mm anterior predominant"], "types": ["T019"], "canonical_name": "Anterior predominant thick cortex pachygyria", "definition": "Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes. [COST:neuromig]"} {"concept_id": "C5209274", "aliases": [], "types": ["T019"], "canonical_name": "Pachygyria with 5-10 mm cortical thickness", "definition": "Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. [COST:neuromig, PMID:28440899]"} {"concept_id": "C5209275", "aliases": [], "types": ["T033"], "canonical_name": "Prolonged reptilase time", "definition": "An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds. [PMID:23546720]"} {"concept_id": "C5209276", "aliases": [], "types": ["T033"], "canonical_name": "IgA heavy chain paraproteinemia", "definition": "An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. [PMID:25125965]"} {"concept_id": "C5209277", "aliases": [], "types": ["T033"], "canonical_name": "IgG heavy chain paraproteinemia", "definition": "An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. [PMID:22301495]"} {"concept_id": "C5209278", "aliases": [], "types": ["T033"], "canonical_name": "IgM heavy chain paraproteinemia", "definition": "An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. [PMID:17403946]"} {"concept_id": "C5209279", "aliases": ["Increased circulating arachidonate level", "Increased circulating arachidonic acid level"], "types": ["T033"], "canonical_name": "Increased circulating arachidonic acid concentration", "definition": "An increased circulation of arachidonic acid in the blood circulation. [PMID:30034875, UCDenver:tjcallahan]"} {"concept_id": "C5209280", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating 18-hydroxycorticosterone level", "definition": "Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation. [PMID:2669615]"} {"concept_id": "C5209281", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating 18-hydroxycortisone level", "definition": "A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation. []"} {"concept_id": "C5209282", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating 18-hydroxycortisone level", "definition": "An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation. [PMID:22238407]"} {"concept_id": "C5209283", "aliases": [], "types": ["T082"], "canonical_name": "Predominant small joint localization", "definition": "Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck. []"} {"concept_id": "C5209284", "aliases": ["Placental thickness increased"], "types": ["T190"], "canonical_name": "Increased placental thickness", "definition": "Abnormally elevated placental thickness. [PMID:25077064]"} {"concept_id": "C5209285", "aliases": ["Persistent fencer's reflex", "Tonic neck reflex asymmetrical and persistent"], "types": ["T033"], "canonical_name": "Persistent asymmetrical tonic neck reflex", "definition": "Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers. [PMID:441119]"} {"concept_id": "C5209286", "aliases": [], "types": ["T033"], "canonical_name": "Oval macrocytosis", "definition": "Enlarged, oval-shaped erythrocytes (red blood cells). [ORCID:0000-0001-9969-8610, PMID:16988104, PMID:19202968, PMID:28821482]"} {"concept_id": "C5209287", "aliases": [], "types": ["T033"], "canonical_name": "Urinary mulberry cells", "definition": "Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance. [PMID:28593486]"} {"concept_id": "C5209288", "aliases": [], "types": ["T034"], "canonical_name": "Absent neutrophil lactoferrin", "definition": "The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production. [PMID:6155073]"} {"concept_id": "C5209289", "aliases": [], "types": ["T033"], "canonical_name": "Neutrophil nuclear clefts", "definition": "An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation. [PMID:3460353]"} {"concept_id": "C5209290", "aliases": [], "types": ["T033"], "canonical_name": "Low neutrophil alkaline phosphatase", "definition": "An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme. [PMID:46759]"} {"concept_id": "C5209291", "aliases": [], "types": ["T033"], "canonical_name": "Increased neutrophil mitochondria", "definition": "An increased number of mitochondria detected in neutrophils. [PMID:6155073]"} {"concept_id": "C5209292", "aliases": [], "types": ["T033"], "canonical_name": "Increased neutrophil ribosomes", "definition": "An increased number of ribosomes detected in neutrophils. [PMID:6155073]"} {"concept_id": "C5209293", "aliases": [], "types": ["T033"], "canonical_name": "Decreased expression of GPI-anchored proteins on the cell surface", "definition": "A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis. [PMID:26293662]"} {"concept_id": "C5209294", "aliases": [], "types": ["T170"], "definition": "Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis. []", "canonical_name": "Clinical relevance"} {"concept_id": "C5209295", "aliases": [], "types": ["T170"], "canonical_name": "Distinctive finding", "definition": "In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential. []"} {"concept_id": "C5209296", "aliases": [], "types": ["T170"], "canonical_name": "Minor finding", "definition": "In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential. []"} {"concept_id": "C5209297", "aliases": [], "types": ["T033"], "canonical_name": "Increased hepatitis A virus antibody level", "definition": "An abnormally increased level of immunoglobulin against hepatitis A virus in the blood. []"} {"concept_id": "C5209298", "aliases": [], "types": ["T033"], "canonical_name": "Increased hepatitis B virus antibody level", "definition": "An abnormally increased level of immunoglobulin against hepatitis B virus in the blood. []"} {"concept_id": "C5209299", "aliases": [], "types": ["T033"], "canonical_name": "Increased hepatitis C virus antibody level", "definition": "An abnormally increased level of immunoglobulin against hepatitis C virus in the blood. []"} {"concept_id": "C5229936", "aliases": ["Labial melanotic freckle"], "types": ["T047"], "definition": "Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture. [PMID:24034073, PMID:26538887]", "canonical_name": "Labial melanotic macule"} {"concept_id": "C5231013", "aliases": [], "types": ["T191"], "definition": "A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.", "canonical_name": "Medulloepithelioma"} {"concept_id": "C5232302", "aliases": [], "types": ["T047"], "definition": "Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction. [ORCID:0000-0002-2234-4248, PMID:18322164, PMID:19668250]", "canonical_name": "Secondary vesicoureteral reflux"} {"concept_id": "C5232538", "aliases": ["Inappropriately normal TSH"], "types": ["T033"], "canonical_name": "Inappropriately normal thyroid-stimulating hormone level", "definition": "A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3. [PMID:12519407, PMID:28932413]"} {"concept_id": "C5233187", "aliases": ["Angular muscle fibers"], "types": ["T033"], "canonical_name": "Angulated muscle fibers", "definition": "Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip. [PMID:22938878, PMID:32529201]"} {"concept_id": "C5233737", "aliases": ["Sperm flagella with irregular caliber", "Sperm flagella with irregular calibre"], "types": ["T033"], "canonical_name": "Irregularly shaped sperm tail", "definition": "Irregular or changing caliber (diameter) along the tail of the sperm. [PMID:26472152]"} {"concept_id": "C5234922", "aliases": [], "types": ["T047"], "definition": "An acute episode of focal or global cerebral or spinal dysfunction caused by intraparenchymal, intraventricular, or subarachnoid hemorrhage.", "canonical_name": "Hemorrhagic stroke"} {"concept_id": "C5234937", "aliases": ["Decreased serum IgG", "Decreased IgG level in blood"], "types": ["T033"], "canonical_name": "Decreased circulating IgG level", "definition": "An abnormally decreased level of immunoglobulin G (IgG) in blood. [HPO:probinson]"} {"concept_id": "C5235039", "aliases": ["Decreased glucose phosphate isomerase activity", "Decreased glucosephosphate isomerase level", "Phosphohexose isomerase deficiency"], "types": ["T033"], "definition": "A decreased level of glucose-6-phosphate isomerase. [HPO:gcarletti]", "canonical_name": "Glucosephosphate isomerase deficiency"} {"concept_id": "C5235140", "aliases": [], "types": ["T033"], "canonical_name": "Decreased proportion of CD4-positive helper T cells", "definition": "A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count. [HPO:probinson]"} {"concept_id": "C5394039", "aliases": [], "types": ["T046"], "canonical_name": "Edematous chorionic villi", "definition": "Swelling of the chorionic villi owing to fluid accumulation. [PMID:26992676]"} {"concept_id": "C5394047", "aliases": [], "types": ["T019"], "canonical_name": "Platystencephaly", "definition": "Extreme width of the skull in the occipital region, with anterior narrowing and prognathism. [PMID:31839203]"} {"concept_id": "C5394393", "aliases": [], "types": ["T033"], "definition": "Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain. []", "canonical_name": "Neuroinflammation"} {"concept_id": "C5394529", "aliases": ["Hypothalamic adhesion"], "types": ["T190"], "canonical_name": "Interhypothalamic Adhesion", "definition": "An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle. [PMID:24874532]"} {"concept_id": "C5396362", "aliases": [], "types": ["T019"], "definition": "Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions. [PMID:11827888]", "canonical_name": "Syntelencephaly"} {"concept_id": "C5397581", "aliases": ["Increased antibody level in blood"], "types": ["T033"], "canonical_name": "Increased circulating antibody level", "definition": "An increased level of gamma globulin (immunoglobulin) in the blood. [HPO:probinson]"} {"concept_id": "C5397582", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal sarcomere morphology", "definition": "Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. []"} {"concept_id": "C5397583", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal Z disc morphology", "definition": "Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. [PMID:22028589]"} {"concept_id": "C5397584", "aliases": ["Renal tubulointerstitial bacterial organisms"], "types": ["T033"], "canonical_name": "Tubulointerstitial bacterial infiltration", "definition": "Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. [KPMP:arosenberg]"} {"concept_id": "C5397585", "aliases": ["Renal tubulointerstitial fungal organisms"], "types": ["T033"], "canonical_name": "Tubulointerstitial fungal infiltration", "definition": "Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. [KPMP:arosenberg]"} {"concept_id": "C5397586", "aliases": [], "types": ["T047"], "canonical_name": "Eating-induced seizure", "definition": "A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period. [ORCID:0000-0002-1735-8178, PMID:11422340]"} {"concept_id": "C5397587", "aliases": [], "types": ["T047"], "canonical_name": "Hot water-induced seizure", "definition": "A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger. [ORCID:0000-0002-1735-8178, PMID:11422340]"} {"concept_id": "C5397588", "aliases": [], "types": ["T047"], "canonical_name": "Praxis-induced seizure", "definition": "A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making. [ORCID:0000-0002-1735-8178, PMID:11422340, PMID:24512781]"} {"concept_id": "C5397589", "aliases": [], "types": ["T047"], "canonical_name": "Proprioceptive-induced seizure", "definition": "A seizure precipitated by movement or a change in posture. [ORCID:0000-0002-1735-8178, PMID:11422340]"} {"concept_id": "C5397590", "aliases": [], "types": ["T047"], "canonical_name": "Reading-induced seizure", "definition": "A seizure precipitated by reading. [ORCID:0000-0002-1735-8178, PMID:11422340]"} {"concept_id": "C5397591", "aliases": [], "types": ["T047"], "canonical_name": "Somatosensory-induced seizure", "definition": "A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise. [ORCID:0000-0002-1735-8178, PMID:11422340]"} {"concept_id": "C5397592", "aliases": [], "types": ["T047"], "canonical_name": "Startle-induced seizure", "definition": "Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus. [ORCID:0000-0002-1735-8178, PMID:11422340]"} {"concept_id": "C5397593", "aliases": ["Cognition induced seizure"], "types": ["T047"], "canonical_name": "Thinking-induced seizure", "definition": "Seizures induced by thinking and decision-making.ncomment: [ORCID:0000-0002-1735-8178, PMID:11422340]"} {"concept_id": "C5397594", "aliases": ["Focal motor aware seizure"], "types": ["T047"], "canonical_name": "Focal aware motor seizure", "definition": "A type of focal motor seizure in which awareness is retained throughout the seizure. [ORCID:0000-0002-1735-8178, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397595", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware atonic seizure", "definition": "A type of focal atonic seizure during which awareness is fully retained throughout. [ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397596", "aliases": ["Segmental hypotonic seizure", "Segmental atonic seizure", "Localized atonic seizure", "Partial atonic seizure", "Localised hypotonic seizure", "Localised atonic seizure", "Localized hypotonic seizure", "Partial hypotonic seizure"], "types": ["T047"], "canonical_name": "Focal atonic seizure", "definition": "A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature. [ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397597", "aliases": ["Pontine ischaemic lacunes"], "types": ["T046"], "canonical_name": "Pontine ischemic lacunes", "definition": "Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons. [PMID:16324092]"} {"concept_id": "C5397598", "aliases": [], "types": ["T049"], "canonical_name": "Increased oocyte death", "definition": "An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization. [PMID:30918116]"} {"concept_id": "C5397599", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urinary nucleobase concentration", "definition": "A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U). []"} {"concept_id": "C5397600", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary cytidine", "definition": "Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond. [PMID:30847922]"} {"concept_id": "C5397601", "aliases": ["Elevated uridine in urine"], "types": ["T033"], "canonical_name": "Elevated uridine in urine", "definition": "Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond. [PMID:30847922]"} {"concept_id": "C5397602", "aliases": ["Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration"], "types": ["T033"], "canonical_name": "Decreased circulating 12-HETE", "definition": "A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid. [PMID:25102815]"} {"concept_id": "C5397603", "aliases": [], "types": ["T049"], "canonical_name": "Intracellular accumulation of Dol-PP-GlcNAc2Man5", "definition": "Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol. [ORCID:0000-0001-5208-3432, PMID:10581255, PMID:16053906, PMID:28575298]"} {"concept_id": "C5397604", "aliases": [], "types": ["T033"], "canonical_name": "Clonal T cell receptor rearrangement", "definition": "Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone. [PMID:24688753]"} {"concept_id": "C5397605", "aliases": [], "types": ["T019"], "canonical_name": "Abnormal bulbus cordis morphology", "definition": "Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis. [PMID:25274757]"} {"concept_id": "C5397606", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal renal insterstitial morphology", "definition": "Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. [PMID:25813241]"} {"concept_id": "C5397607", "aliases": [], "types": ["T033"], "canonical_name": "Renal interstitial foam cells", "definition": "Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. [PMID:19672113, PMID:25887903]"} {"concept_id": "C5397608", "aliases": [], "types": ["T033"], "canonical_name": "Renal glomerular foam cells"} {"concept_id": "C5397609", "aliases": [], "types": ["T033"], "canonical_name": "Renal interstitial neutrophil infiltration", "definition": "Increased numbers of neutrophils in the interstitial tissues of the kidney. [PMID:29537990]"} {"concept_id": "C5397610", "aliases": [], "types": ["T033"], "canonical_name": "Renal interstitial eosinophil infiltration", "definition": "Increased numbers of eosinophils in the interstitial tissues of the kidney. [PMID:10052481, PMID:20336051]"} {"concept_id": "C5397611", "aliases": [], "types": ["T033"], "canonical_name": "Renal interstitial plasma cell infiltration", "definition": "Increased numbers of plasma cells in the interstitial tissues of the kidney. [PMID:28904438]"} {"concept_id": "C5397612", "aliases": ["Lack of purposeful hand use"], "types": ["T033"], "canonical_name": "Hand apraxia", "definition": "Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects. [PMID:20345957]"} {"concept_id": "C5397613", "aliases": [], "types": ["T047"], "canonical_name": "Renal lymphocytic tubulitis", "definition": "Infiltration of the renal tubular epithelium by lymphocytes. [PMID:29537990]"} {"concept_id": "C5397614", "aliases": [], "types": ["T047"], "canonical_name": "Renal neutrophilic tubulitis", "definition": "Infiltration of the renal tubular epithelium by neutrophils. [PMID:29537990]"} {"concept_id": "C5397615", "aliases": [], "types": ["T033"], "canonical_name": "Renal interstitial hemosiderin", "definition": "Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. [PMID:26491580]"} {"concept_id": "C5397616", "aliases": ["Denuded tubular basement membrane"], "types": ["T033"], "canonical_name": "Renal tubular basement membrane denudation", "definition": "Naked basement membranes without tubular epithelium. [PMID:29875323]"} {"concept_id": "C5397617", "aliases": [], "types": ["T049"], "canonical_name": "Renal tubular epithelial cell detachment", "definition": "Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. [PMID:29537990]"} {"concept_id": "C5397618", "aliases": [], "types": ["T033"], "canonical_name": "Renal tubular epithelial cell cytoplasmic vacuolization", "definition": "Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. [PMID:29537990]"} {"concept_id": "C5397619", "aliases": [], "types": ["T033"], "canonical_name": "Renal tubular epithelial cell sloughing", "definition": "At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. [PMID:29537990]"} {"concept_id": "C5397620", "aliases": [], "types": ["T049"], "canonical_name": "Blebbing of apical cytoplasm of renal tubular epithelial cells", "definition": "Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. [PMID:29537990]"} {"concept_id": "C5397621", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal renal tubular epithelial morphology", "definition": "Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine. []"} {"concept_id": "C5397622", "aliases": [], "types": ["T049"], "canonical_name": "Renal tubular epithelial cell hyaline droplets", "definition": "Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. [PMID:29537990]"} {"concept_id": "C5397623", "aliases": [], "types": ["T049"], "canonical_name": "Multinucleation of renal tubular epithelial cells", "definition": "Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. [PMID:29537990]"} {"concept_id": "C5397624", "aliases": [], "types": ["T033"], "canonical_name": "Prominent nucleoli of renal tubular epithelial cells", "definition": "Tubular epithelium with nucleoli clearly visible at 100-fold magnification. [PMID:29537990]"} {"concept_id": "C5397625", "aliases": [], "types": ["T049"], "canonical_name": "Renal tubular epithelial cell simplification", "definition": "Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. [PMID:29537990]"} {"concept_id": "C5397626", "aliases": [], "types": ["T033"], "canonical_name": "Renal tubular epithelial cell mitosis", "definition": "Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. [PMID:29537990]"} {"concept_id": "C5397627", "aliases": ["High N/C ratio of renal tubular epithelial cells"], "types": ["T033"], "canonical_name": "High renal tubular epithelial cell N/C ratio", "definition": "At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. [PMID:29537990]"} {"concept_id": "C5397628", "aliases": [], "types": ["T033"], "canonical_name": "Renal tubular epithelial lipofuscin", "definition": "Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. [PMID:31076149]"} {"concept_id": "C5397629", "aliases": [], "types": ["T049"], "canonical_name": "Renal tubular epithelial cell swelling", "definition": "Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. [PMID:29537990]"} {"concept_id": "C5397630", "aliases": [], "types": ["T047"], "canonical_name": "Thyroidization-type tubular atrophy", "definition": "A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. [KPMP:arosenberg, PMID:27211375]"} {"concept_id": "C5397631", "aliases": ["Renal tubular atrophy, endocrine-type", "Endocrinization pattern of tubular atrophy"], "types": ["T047"], "canonical_name": "Endocrine-type tubular atrophy", "definition": "A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. [KPMP:arosenberg, PMID:27211375, PMID:7906246]"} {"concept_id": "C5397632", "aliases": ["Renal tubulointerstitial mycobacterial organisms"], "types": ["T033"], "canonical_name": "Tubulointerstitial mycobacterial infiltration", "definition": "Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. [PMID:23303798]"} {"concept_id": "C5397633", "aliases": [], "types": ["T033"], "canonical_name": "Renal tubular epithelial cell hemosiderin", "definition": "Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. [KPMP:arosenberg, PMID:25441434, PMID:29537990]"} {"concept_id": "C5397634", "aliases": ["Renal interstitial amyloidosis", "Renal interstitial amyloid", "Renal interstitial amyloid deposition"], "types": ["T047"], "canonical_name": "Renal interstitial amyloid deposits", "definition": "Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. [KPMP:arosenberg, PMID:25852856]"} {"concept_id": "C5397635", "aliases": [], "types": ["T033"], "canonical_name": "Renal glomerular amyloid deposition", "definition": "Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. [PMID:21427073]"} {"concept_id": "C5397636", "aliases": ["Diffusion weighted imaging (DWI) abnormality", "Diffusion weighted magnetic resonance imaging (DWI) abnormality", "MRI diffusion abnormality of the cerebrum"], "types": ["T033"], "canonical_name": "Abnormal diffusion weighted cerebral MRI morphology", "definition": "A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images. [ORCID:0000-0002-7440-8864, PMID:11058626]"} {"concept_id": "C5397637", "aliases": ["Renal interstitial immunoglobulin deposition"], "types": ["T033"], "canonical_name": "Renal interstitial immunoglobulin deposits", "definition": "Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). [PMID:11423587, PMID:28509073]"} {"concept_id": "C5397638", "aliases": ["Renal interstitial haemorrhage"], "types": ["T046"], "canonical_name": "Renal interstitial hemorrhage", "definition": "A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. [KPMP:arosenberg, PMID:20709744, PMID:29537990]"} {"concept_id": "C5397639", "aliases": ["Condensed chromatin of renal tubular epithelial cells"], "types": ["T033"], "canonical_name": "Hyperchromasia of renal tubular epithelial cells", "definition": "At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. [KPMP:arosenberg, PMID:29537990]"} {"concept_id": "C5397640", "aliases": ["Tubular ectasia"], "types": ["T033"], "canonical_name": "Tubular luminal dilatation", "definition": "Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. [KPMP:arosenberg, PMID:29537990]"} {"concept_id": "C5397641", "aliases": ["Tubular casts"], "types": ["T033"], "canonical_name": "Renal intratubular casts", "definition": "Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. [KPMP:arosenberg, PMID:29537990]"} {"concept_id": "C5397642", "aliases": [], "types": ["T033"], "canonical_name": "Intratubular bilirubin casts", "definition": "A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). [PMID:28398539]"} {"concept_id": "C5397643", "aliases": [], "types": ["T033"], "canonical_name": "Intratubular erythrocyte cast", "definition": "Casts that contain red blood cells and are located within the tubuli of the kidney. [PMID:21959738]"} {"concept_id": "C5397644", "aliases": [], "types": ["T033"], "canonical_name": "Intratubular vancomycin casts", "definition": "Intratubular casts composed of vancomycin aggregates and uromodulin. []"} {"concept_id": "C5397645", "aliases": [], "types": ["T033"], "canonical_name": "Intratubular leukocyte casts", "definition": "Casts that contain white blood cells and are located within the tubuli of the kidney. []"} {"concept_id": "C5397646", "aliases": [], "types": ["T033"], "canonical_name": "Renal intratubular crystals"} {"concept_id": "C5397647", "aliases": [], "types": ["T033"], "canonical_name": "Intratubular dihydroxyadenuria crystals", "definition": "Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. [PMID:20064951]"} {"concept_id": "C5397648", "aliases": [], "types": ["T033"], "canonical_name": "Intratubular light-chain casts", "definition": "The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. [KPMP:arosenberg, PMID:26916380]"} {"concept_id": "C5397649", "aliases": ["Intratubular haemoglobin casts"], "types": ["T033"], "canonical_name": "Intratubular hemoglobin casts", "definition": "A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. [KPMP:arosenberg, PMID:25441434]"} {"concept_id": "C5397650", "aliases": ["Intratubular Tamm-Horsfall (uromodulin) casts"], "types": ["T033"], "canonical_name": "Intratubular hyaline casts", "definition": "A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. [KPMP:arosenberg, PMID:393892]"} {"concept_id": "C5397651", "aliases": [], "types": ["T033"], "canonical_name": "Intratubular myoglobin cast", "definition": "Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. [KPMP:arosenberg, PMID:28115066, PMID:29942498]"} {"concept_id": "C5397652", "aliases": [], "types": ["T033"], "canonical_name": "Tubulointerstitial microganismal infiltration", "definition": "Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. [KPMP:arosenberg]"} {"concept_id": "C5397653", "aliases": ["Renal tubulointerstitial viral inclusions"], "types": ["T033"], "canonical_name": "Tubulointerstitial viral infiltration", "definition": "Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. []"} {"concept_id": "C5397654", "aliases": ["Renal interstitial oedema"], "types": ["T046"], "canonical_name": "Renal interstitial edema", "definition": "Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. [KPMP:arosenberg, PMID:24454932]"} {"concept_id": "C5397655", "aliases": ["Elevated urine mevalonate", "Elevated urine mevalonate levels", "Mevalonate aciduria"], "types": ["T033"], "canonical_name": "Elevated urine mevalonic acid", "definition": "An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid. [PMID:3680522]"} {"concept_id": "C5397656", "aliases": [], "types": ["T033"], "canonical_name": "Elevated leukocyte cystine", "definition": "An increased concentration of cystine within white blood cells. [PMID:27102039, PMID:31892015]"} {"concept_id": "C5397657", "aliases": ["Increased C-C motif chemokine ligand 18 concentration"], "types": ["T033"], "canonical_name": "Elevated circulating CCL18 level", "definition": "An increased concentration of C-C motif chemokine ligand 18 in the blood circulation. [PMID:15784687]"} {"concept_id": "C5397658", "aliases": ["Renal interstitial granulomata"], "types": ["T046"], "canonical_name": "Renal interstitial granulomas", "definition": "Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. [KPMP:arosenberg, PMID:26413275]"} {"concept_id": "C5397659", "aliases": ["Renal interstitial necrotizing granulomata"], "types": ["T046"], "canonical_name": "Renal interstitial necrotizing granulomas", "definition": "An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. [KPMP:arosenberg, PMID:31723695]"} {"concept_id": "C5397660", "aliases": ["Renal interstitial non-necrotizing granulomata"], "types": ["T046"], "canonical_name": "Renal interstitial non-necrotizing granulomas", "definition": "Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. [KPMP:arosenberg]"} {"concept_id": "C5397661", "aliases": [], "types": ["T033"], "canonical_name": "Renal interstitial deposits", "definition": "Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. []"} {"concept_id": "C5397662", "aliases": [], "types": ["T033"], "canonical_name": "Renal interstitial mononuclear cell infiltration", "definition": "Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). [KPMP:arosenberg]"} {"concept_id": "C5397663", "aliases": [], "types": ["T046"], "canonical_name": "Renal interstitial xanthogranulomatous inflammation", "definition": "Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. [PMID:21526966]"} {"concept_id": "C5397664", "aliases": [], "types": ["T049"], "canonical_name": "Renal tubular epithelial cell apoptosis", "definition": "Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. [KPMP:arosenberg, PMID:29537990]"} {"concept_id": "C5397665", "aliases": [], "types": ["T190"], "canonical_name": "Tubularization of Bowman capsule", "definition": "The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. [PMID:29537990]"} {"concept_id": "C5397666", "aliases": ["Skew-foot", "Skew foot"], "types": ["T190"], "canonical_name": "Skewfoot", "definition": "A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus. [PMID:9916191]"} {"concept_id": "C5397667", "aliases": [], "types": ["T033"], "canonical_name": "Elevated CSF glial fibrillary acidic protein level", "definition": "Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid. [PMID:31892365]"} {"concept_id": "C5397668", "aliases": [], "types": ["T033"], "canonical_name": "Elevated CSF chitinase-3-like protein 1 level", "definition": "Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid. [PMID:31892365]"} {"concept_id": "C5397669", "aliases": [], "types": ["T033"], "canonical_name": "Elevated CSF chitotriosidase 1 level", "definition": "Increased concentration of chitotriosidase 1 in cerebrospinal fluid. [PMID:31892365]"} {"concept_id": "C5397670", "aliases": [], "types": ["T033"], "canonical_name": "Elevated lactate:pyruvate ratio", "definition": "An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation. [PMID:28088395]"} {"concept_id": "C5397671", "aliases": [], "types": ["T033"], "canonical_name": "Impaired flow-mediated arterial dilatation", "definition": "Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery. [PMID:11069434]"} {"concept_id": "C5397672", "aliases": [], "types": ["T033"], "canonical_name": "Decreased adipose tissue tocopherol level", "definition": "A reduced concentration of tocopherol in fat tissue. [PMID:27520363]"} {"concept_id": "C5397673", "aliases": ["Fever-induced status epilepticus"], "types": ["T047"], "canonical_name": "Febrile status epilepticus", "definition": "A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult. [ORCID:0000-0002-1735-8178, PMID:22742587, PMID:24502379, PMID:26336950]"} {"concept_id": "C5397674", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating lyso-globotriaosylsphingosine concentration", "definition": "An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation. [PMID:29288396, PMID:30875019]"} {"concept_id": "C5397675", "aliases": [], "types": ["T047"], "canonical_name": "Status epilepticus with prominent motor symptoms", "definition": "Status epilepticus with prominent motor signs during the prolonged seizure. [ORCID:0000-0002-1735-8178, PMID:26336950]"} {"concept_id": "C5397676", "aliases": ["Subtle status epilepticus"], "types": ["T047"], "canonical_name": "Non-convulsive status epilepticus with coma", "definition": "A type of status epilepticus without prominent motor symptoms and in the presence of coma. [ORCID:0000-0002-1735-8178, PMID:26336950]"} {"concept_id": "C5397677", "aliases": ["Secondarily generalised convulsive status epilepticus", "Partial-onset seizure evolving into convulsive status epilepticus", "Focal onset seizure evolving into bilateral convulsive status epilepticus", "Partial onset seizure evolving into convulsive status epilepticus", "Secondarily generalized convulsive status epilepticus", "Focal-onset seizure evolving into generalized convulsive status epilepticus", "Focal-onset seizure evolving into generalised convulsive status epilepticus", "Secondarily generalised tonic-clonic status epilepticus", "Secondarily generalized tonic-clonic status epilepticus"], "types": ["T047"], "canonical_name": "Focal-onset seizure evolving into bilateral convulsive status epilepticus", "definition": "A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. [PMID:26336950]"} {"concept_id": "C5397678", "aliases": [], "types": ["T047"], "canonical_name": "Adversive status epilepticus", "definition": "A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus. [ORCID:0000-0002-1735-8178, PMID:26336950]"} {"concept_id": "C5397679", "aliases": ["Jacksonian status epilepticus"], "types": ["T047"], "canonical_name": "Repeated focal motor seizures", "definition": "A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus. [ORCID:0000-0002-1735-8178, PMID:21070217, PMID:26336950]"} {"concept_id": "C5397680", "aliases": [], "types": ["T047"], "canonical_name": "Hyperkinetic status epilepticus", "definition": "Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements. [ORCID:0000-0002-1735-8178, PMID:26336950]"} {"concept_id": "C5397681", "aliases": [], "types": ["T047"], "canonical_name": "Myoclonic status epilepticus", "definition": "A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography. [ORCID:0000-0002-1735-8178, PMID:26336950]"} {"concept_id": "C5397682", "aliases": [], "types": ["T047"], "canonical_name": "Myoclonic status epilepticus without coma", "definition": "A type of myoclonic status epilepticus in the absence of coma. [ORCID:0000-0002-1735-8178, PMID:26336950]"} {"concept_id": "C5397683", "aliases": [], "types": ["T047"], "canonical_name": "Myoclonic status epilepticus with coma", "definition": "A type of myoclonic status epilepticus in the presence of coma. [ORCID:0000-0002-1735-8178, PMID:26336950]"} {"concept_id": "C5397684", "aliases": [], "types": ["T047"], "canonical_name": "Non-convulsive status epilepticus without coma", "definition": "A type of status epilepticus without prominent motor symptoms in the absence of coma. [ORCID:0000-0002-1735-8178, PMID:26336950]"} {"concept_id": "C5397685", "aliases": [], "types": ["T047"], "canonical_name": "Autonomic status epilepticus", "definition": "Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal. [ORCID:0000-0002-1735-8178, PMID:26336950]"} {"concept_id": "C5397686", "aliases": [], "types": ["T047"], "canonical_name": "Focal non-convulsive status epilepticus without coma", "definition": "Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure. [ORCID:0000-0002-1735-8178, PMID:26336950]"} {"concept_id": "C5397687", "aliases": [], "types": ["T037"], "canonical_name": "Acute cutaneous wound", "definition": "A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin. [PMID:30475656]"} {"concept_id": "C5397688", "aliases": ["Chronic nonhealing cutaneous wound"], "types": ["T037"], "canonical_name": "Chronic cutaneous wound", "definition": "A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result. [PMID:8166487]"} {"concept_id": "C5397689", "aliases": [], "types": ["T047"], "canonical_name": "Eyelid myoclonia seizure", "definition": "An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness. [HPO:epilepsiome, PMID:19469840]"} {"concept_id": "C5397690", "aliases": ["Partial seizure without motor onset", "Focal seizure without motor onset"], "types": ["T047"], "canonical_name": "Focal non-motor seizure", "definition": "A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397691", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure", "definition": "A focal aware cognitive seizure during which awareness is retained throughout the seizure. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397692", "aliases": ["Focal non-motor aware seizure"], "types": ["T047"], "canonical_name": "Focal aware non-motor seizure", "definition": "A focal non-motor seizure in which awareness is retained throughout the seizure. [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397694", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with auditory agnosia", "definition": "A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397695", "aliases": [], "types": ["T047"], "canonical_name": "Focal cognitive seizure with auditory agnosia", "definition": "A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing. [PMID:28276060]"} {"concept_id": "C5397696", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with memory impairment", "definition": "A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397697", "aliases": ["Amnestic aura", "Amnestic seizure"], "types": ["T047"], "canonical_name": "Focal cognitive seizure with memory impairment", "definition": "A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia). [PMID:17444534]"} {"concept_id": "C5397698", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with dissociation", "definition": "A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397699", "aliases": [], "types": ["T047"], "canonical_name": "Focal cognitive seizure with dissociation", "definition": "A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation. [PMID:28276060]"} {"concept_id": "C5397700", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with dyscalculia/acalculia", "definition": "A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397701", "aliases": [], "types": ["T047"], "canonical_name": "Focal cognitive seizure with dyscalculia/acalculia", "definition": "A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation. [PMID:28276060]"} {"concept_id": "C5397702", "aliases": [], "types": ["T047"], "canonical_name": "Focal cognitive seizure with forced thinking", "definition": "A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation. [PMID:28276060]"} {"concept_id": "C5397703", "aliases": [], "types": ["T047"], "canonical_name": "Focal cognitive seizure with neglect", "definition": "A focal cognitive seizure characterized by neglect as the initial semiological manifestation. [PMID:28276060]"} {"concept_id": "C5397704", "aliases": [], "types": ["T047"], "canonical_name": "Focal cognitive seizure with dyslexia/alexia", "definition": "A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation. [PMID:28276060]"} {"concept_id": "C5397706", "aliases": [], "types": ["T047"], "canonical_name": "Focal cognitive seizure with receptive dysphasia/aphasia", "definition": "A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation. [PMID:28276060]"} {"concept_id": "C5397708", "aliases": [], "types": ["T047"], "canonical_name": "Focal cognitive seizure with conduction dysphasia/aphasia", "definition": "A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation. [PMID:28276060]"} {"concept_id": "C5397709", "aliases": [], "types": ["T047"], "canonical_name": "Focal cognitive seizure with dysgraphia/agraphia", "definition": "A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation. [PMID:28276060]"} {"concept_id": "C5397710", "aliases": [], "types": ["T047"], "canonical_name": "Focal cognitive seizure with left-right confusion", "definition": "A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation. [PMID:28276060]"} {"concept_id": "C5397711", "aliases": [], "types": ["T047"], "canonical_name": "Focal cognitive seizure with anomia", "definition": "A focal cognitive seizure characterized by anomia as the initial semiological manifestation. [PMID:28276060]"} {"concept_id": "C5397712", "aliases": [], "types": ["T047"], "canonical_name": "Focal cognitive seizure with expressive dysphasia/aphasia", "definition": "A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation. [PMID:28276060]"} {"concept_id": "C5397714", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with illusion", "definition": "A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397715", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with forced thinking", "definition": "A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397716", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with left-right confusion", "definition": "A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397717", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with dyslexia/alexia", "definition": "A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397718", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with anomia", "definition": "A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397719", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with dysgraphia/agraphia", "definition": "A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397720", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with receptive dysphasia/aphasia", "definition": "A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397721", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware clonic seizure", "definition": "A type of focal clonic seizure during which awareness is fully retained throughout. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397722", "aliases": ["Focal motor impaired awareness seizure"], "types": ["T047"], "canonical_name": "Focal impaired awareness motor seizure", "definition": "A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397723", "aliases": ["Focal motor impaired awareness seizure with version"], "types": ["T047"], "canonical_name": "Focal impaired awareness motor seizure with version", "definition": "A focal motor seizure with version characterized by impaired awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397724", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness bilateral motor seizure", "definition": "A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397725", "aliases": [], "types": ["T047"], "canonical_name": "Focal bilateral motor seizure", "definition": "A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset. [PMID:28276060]"} {"concept_id": "C5397726", "aliases": ["Focal non-motor impaired awareness seizure"], "types": ["T047"], "canonical_name": "Focal impaired awareness non-motor seizure", "definition": "A focal non-motor seizure characterized by impaired awareness at some point during the seizure. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397727", "aliases": ["Focal motor impaired awareness seizure with dystonia"], "types": ["T047"], "canonical_name": "Focal impaired awareness motor seizure with dystonia", "definition": "A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397728", "aliases": [], "types": ["T047"], "canonical_name": "Focal motor seizure with dystonia", "definition": "A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures. [PMID:28276060]"} {"concept_id": "C5397729", "aliases": ["Focal motor impaired awareness seizure with dysarthria/anarthria"], "types": ["T047"], "canonical_name": "Focal impaired awareness motor seizure with dysarthria/anarthria", "definition": "A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397730", "aliases": [], "types": ["T047"], "canonical_name": "Focal motor seizure with dysarthria/anarthria", "definition": "A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible. [PMID:28276060]"} {"concept_id": "C5397731", "aliases": [], "types": ["T047"], "canonical_name": "Focal motor seizure with paresis/paralysis", "definition": "A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation. [PMID:28276060]"} {"concept_id": "C5397732", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware tonic seizure", "definition": "A type of focal tonic seizure during which awareness is fully retained throughout. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397733", "aliases": ["Focal motor aware seizure with dystonia"], "types": ["T047"], "canonical_name": "Focal aware motor seizure with dystonia", "definition": "A focal motor seizure with dystonia characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397734", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness tonic seizure", "definition": "A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397735", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness clonic seizure", "definition": "A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397736", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness hyperkinetic seizure", "definition": "A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397737", "aliases": [], "types": ["T047"], "canonical_name": "Focal emotional seizure with agitation", "definition": "Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. [PMID:28276060]"} {"concept_id": "C5397738", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness atonic seizure", "definition": "A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397739", "aliases": [], "types": ["T047"], "canonical_name": "Focal emotional seizure with pleasure", "definition": "Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397740", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness myoclonic seizure", "definition": "A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397741", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware hyperkinetic seizure", "definition": "A type of focal hypermotor seizure during which awareness is fully retained throughout. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397742", "aliases": ["Focal motor aware seizure with paresis/paralysis"], "types": ["T047"], "canonical_name": "Focal aware motor seizure with paresis/paralysis", "definition": "A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397743", "aliases": ["Focal motor aware seizure with dysarthria/anarthria"], "types": ["T047"], "canonical_name": "Focal aware motor seizure with dysarthria/anarthria", "definition": "A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397744", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware emotional seizure", "definition": "A focal emotional seizure during which awareness is retained throughout the seizure. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397745", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware emotional seizure with anger", "definition": "Focal emotional seizure with anger in which awareness is retained throughout. [PMID:28276060]"} {"concept_id": "C5397746", "aliases": [], "types": ["T047"], "canonical_name": "Focal emotional seizure with anger", "definition": "Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397747", "aliases": [], "types": ["T047"], "canonical_name": "Focal emotional seizure with paranoia", "definition": "Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure. [PMID:28276060]"} {"concept_id": "C5397748", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware emotional seizure with fear/anxiety/panic", "definition": "Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397749", "aliases": [], "types": ["T047"], "canonical_name": "Focal emotional seizure with fear/anxiety/panic", "definition": "Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397750", "aliases": ["Localised autonomic seizures without altered responsiveness", "Localized autonomic seizures without altered responsiveness", "Partial autonomic seizures without altered responsiveness", "Focal autonomic seizures without altered responsiveness"], "types": ["T047"], "canonical_name": "Focal aware autonomic seizure", "definition": "A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout. [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397751", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware emotional seizure with paranoia", "definition": "Focal emotional seizure with paranoia in which awareness is retained throughout. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397752", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware emotional seizure with pleasure", "definition": "Focal emotional seizure with pleasure in which awareness is retained throughout. [PMID:28276060]"} {"concept_id": "C5397753", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware emotional seizure with crying", "definition": "Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout. [PMID:28276060]"} {"concept_id": "C5397754", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware emotional seizure with agitation", "definition": "Focal emotional seizure with agitation in which awareness is retained throughout. [PMID:28276060]"} {"concept_id": "C5397755", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware emotional seizure with laughing", "definition": "Focal emotional seizure with laughing in which awareness is retained throughout. [PMID:28276060]"} {"concept_id": "C5397756", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness emotional seizure", "definition": "A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397757", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness emotional seizure with pleasure", "definition": "Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397758", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness emotional seizure with anger", "definition": "Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397759", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness emotional seizure with paranoia", "definition": "Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397760", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness emotional seizure with laughing", "definition": "Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397761", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness emotional seizure with crying", "definition": "Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397762", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness emotional seizure with fear/anxiety/panic", "definition": "Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397763", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness emotional seizure with agitation", "definition": "A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397764", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware sensory seizure", "definition": "A focal sensory seizure during which awareness is retained throughout the seizure. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397765", "aliases": ["Focal autonomic seizure with altered responsiveness", "Localised autonomic seizure with altered responsiveness", "Partial autonomic seizure with altered responsiveness", "Localized autonomic seizure with altered responsiveness"], "types": ["T047"], "canonical_name": "Focal impaired awareness autonomic seizure", "definition": "A focal autonomic seizure characterised by impaired awareness at some point within the seizure. [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397766", "aliases": [], "types": ["T046"], "canonical_name": "Focal impaired awareness cognitive seizure", "definition": "A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397767", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware hemiclonic seizure", "definition": "A focal hemiclonic seizure in which awareness is retained throughout. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397768", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware myoclonic seizure", "definition": "A type of focal myoclonic seizure during which awareness is fully retained throughout. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397769", "aliases": ["Partial vestibular seizure", "Focal vestibular seizure", "Vestibular aura"], "types": ["T047"], "canonical_name": "Focal sensory seizure with vestibular features", "definition": "A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation. [PMID:28276060]"} {"concept_id": "C5397770", "aliases": [], "types": ["T047"], "canonical_name": "Focal sensory seizure with hot-cold sensations", "definition": "A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation. [PMID:28276060]"} {"concept_id": "C5397771", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware autonomic seizure with pallor/flushing", "definition": "A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397772", "aliases": [], "types": ["T047"], "canonical_name": "Focal autonomic seizure with pallor/flushing", "definition": "A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature. [PMID:28276060]"} {"concept_id": "C5397773", "aliases": [], "types": ["T047"], "canonical_name": "Focal autonomic seizure with pupillary dilation/constriction", "definition": "A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature. [PMID:28276060]"} {"concept_id": "C5397774", "aliases": [], "types": ["T047"], "canonical_name": "Focal autonomic seizure with erection", "definition": "A type of focal autonomic seizure characterised by penile erection as the intial semiological feature. [PMID:28276060]"} {"concept_id": "C5397775", "aliases": [], "types": ["T047"], "canonical_name": "Focal autonomic seizure with urge to urinate/defecate", "definition": "A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature. [PMID:28276060]"} {"concept_id": "C5397776", "aliases": [], "types": ["T047"], "canonical_name": "Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration", "definition": "A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature. [PMID:28276060]"} {"concept_id": "C5397777", "aliases": [], "types": ["T047"], "canonical_name": "Focal autonomic seizure with piloerection", "definition": "A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature. []"} {"concept_id": "C5397778", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware autonomic seizure with pupillary dilation/constriction", "definition": "A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397779", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration", "definition": "An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397780", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware autonomic seizure with erection", "definition": "A focal autonomic seizure with erection characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397781", "aliases": [], "types": ["T047"], "canonical_name": "Focal autonomic seizure with lacrimation", "definition": "A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature. [PMID:28276060]"} {"concept_id": "C5397782", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness autonomic seizure with piloerection", "definition": "A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397783", "aliases": [], "types": ["T047"], "canonical_name": "Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole", "definition": "A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature. [PMID:28276060]"} {"concept_id": "C5397784", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness autonomic seizure with urge to urinate/defecate", "definition": "A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397785", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration", "definition": "An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397786", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware autonomic seizure with lacrimation"} {"concept_id": "C5397787", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness autonomic seizure with pallor/flushing", "definition": "A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397788", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena", "definition": "A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397789", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness autonomic seizure with pupillary dilation/constriction", "definition": "A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397790", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness autonomic seizure with erection", "definition": "A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397791", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware autonomic seizure with urge to urinate/defecate", "definition": "A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397792", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness autonomic seizure with lacrimation", "definition": "A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397793", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware autonomic seizure with piloerection", "definition": "A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397794", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole", "definition": "An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397795", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena", "definition": "A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397796", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness sensory seizure", "definition": "A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397797", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole", "definition": "A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397798", "aliases": ["Focal aware behaviour arrest seizure"], "types": ["T047"], "canonical_name": "Focal aware behavior arrest seizure", "definition": "A focal behavior arrest seizure characterised by retained awareness throughout the seizure. [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397799", "aliases": ["Focal impaired awareness behaviour arrest seizure"], "types": ["T047"], "canonical_name": "Focal impaired awareness behavior arrest seizure", "definition": "A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure. [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397800", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with anomia", "definition": "A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397801", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia", "definition": "A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397802", "aliases": ["Generalised myoclonic-tonic-clonic seizure", "generalised onset myoclonic-tonic-clonic seizure", "generalized onset myoclonic-tonic-clonic seizure", "Generalized-onset myoclonic-tonic-clonic seizure", "Generalised-onset myoclonic-tonic-clonic seizure", "Generalised onset myoclonic-tonic-clonic seizure"], "types": ["T047"], "canonical_name": "Generalized myoclonic-tonic-clonic seizure", "definition": "A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397803", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with left-right confusion", "definition": "A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397804", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware sensory seizure with olfactory features", "definition": "Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant. [PMID:28276060]"} {"concept_id": "C5397805", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with neglect", "definition": "A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397806", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness hemiclonic seizure", "definition": "A focal hemiclonic seizure in which awareness is impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397807", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware sensory seizure with vestibular features", "definition": "A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation. [PMID:28276060]"} {"concept_id": "C5397808", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with memory impairment", "definition": "A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397809", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with dyscalculia/acalculia", "definition": "A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397810", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with dysgraphia/agraphia", "definition": "A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397811", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness sensory seizure with olfactory features", "definition": "A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397812", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness sensory seizure with vestibular features", "definition": "A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397813", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness sensory seizure with visual features", "definition": "A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397814", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal seizure with electrographic correlate", "definition": "Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation. [PMID:28276060]"} {"concept_id": "C5397815", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal electro-clinical seizure", "definition": "Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation. [PMID:28276060]"} {"concept_id": "C5397816", "aliases": ["Cephalic aura", "Focal seizure with cephalic sensation", "Partial seizure with cephalic sensation"], "types": ["T047"], "canonical_name": "Focal sensory seizure with cephalic sensation", "definition": "A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation. [PMID:28276060]"} {"concept_id": "C5397817", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal electrographic only seizure", "definition": "Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation. [PMID:28276060]"} {"concept_id": "C5397818", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal electro-clinical non-motor seizure"} {"concept_id": "C5397819", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal electro-clinical motor seizure", "definition": "Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features. [PMID:28276060]"} {"concept_id": "C5397820", "aliases": ["Neonatal electroclinical clonic seizure"], "types": ["T047"], "canonical_name": "Neonatal electro-clinical clonic seizure", "definition": "Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric. [PIMD:28276064]"} {"concept_id": "C5397821", "aliases": ["Neonatal electroclinical myoclonic seizure"], "types": ["T047"], "canonical_name": "Neonatal electro-clinical myoclonic seizure", "definition": "Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). [PIMD:28276064]"} {"concept_id": "C5397822", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal multifocal myoclonic seizure", "definition": "Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites. [PIMD:28276064]"} {"concept_id": "C5397823", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal focal myoclonic seizure", "definition": "Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally. [PMID:28276064]"} {"concept_id": "C5397824", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal focal clonic seizure", "definition": "Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups. [PMID:28276064]"} {"concept_id": "C5397825", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal bilateral clonic seizure", "definition": "Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral. [PMID:28276064]"} {"concept_id": "C5397826", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal multifocal clonic seizure", "definition": "Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites. [PMID:28276064]"} {"concept_id": "C5397827", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal electro-clinical tonic seizure", "definition": "Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes. [PMID:28276064]"} {"concept_id": "C5397828", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal electro-clinical autonomic seizure", "definition": "Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea. [PMID:28276064]"} {"concept_id": "C5397829", "aliases": ["Neonatal electroclinical seizure with behavioural arrest", "Neonatal electro-clinical seizure with behaviour arrest"], "types": ["T047"], "canonical_name": "Neonatal electro-clinical seizure with behavior arrest", "definition": "Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations. [PMID:28276064]"} {"concept_id": "C5397830", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal focal tonic seizure", "definition": "Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes. [PMID:28276064]"} {"concept_id": "C5397832", "aliases": [], "types": ["T047"], "canonical_name": "Focal neonatal sequential seizure", "definition": "Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures. [PMID:28276064]"} {"concept_id": "C5397833", "aliases": [], "types": ["T047"], "canonical_name": "Multifocal neonatal sequential seizure", "definition": "Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs. [PMID:28276064]"} {"concept_id": "C5397834", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal bilateral symmetric tonic seizure", "definition": "Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically. [PMID:28276064]"} {"concept_id": "C5397835", "aliases": ["Neonatal electroclinical motor seizure with automatism"], "types": ["T047"], "canonical_name": "Neonatal electro-clinical motor seizure with automatism", "definition": "Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397836", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal seizure with bilateral asymmetric automatism", "definition": "Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397837", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal bilateral asymmetric tonic seizure", "definition": "Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically. [PMID:28276064]"} {"concept_id": "C5397838", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal bilateral asymmetric myoclonic seizure", "definition": "Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically. [PMID:28276064]"} {"concept_id": "C5397839", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal epileptic spasm", "definition": "A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters. [PMID:28276060]"} {"concept_id": "C5397840", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal seizure with unilateral automatism", "definition": "Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397841", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal seizure with bilateral symmetric automatism", "definition": "Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397842", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal bilateral symmetric myoclonic seizure", "definition": "Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically. [PMID:28276064]"} {"concept_id": "C5397843", "aliases": [], "types": ["T047"], "canonical_name": "Bilateral asymmetric neonatal sequential seizure", "definition": "Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. [PMID:28276064]"} {"concept_id": "C5397844", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal unilateral epileptic spasm", "definition": "Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body. [PMID:28276064]"} {"concept_id": "C5397845", "aliases": [], "types": ["T047"], "canonical_name": "Bilateral symmetric neonatal sequential seizure", "definition": "Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs. [PMID:28276064]"} {"concept_id": "C5397846", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal bilateral symmetric epileptic spasm", "definition": "Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body. [PMID:28276064]"} {"concept_id": "C5397847", "aliases": [], "types": ["T047"], "canonical_name": "Neonatal bilateral asymmetric epileptic spasm", "definition": "Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body. [PMID:28276064]"} {"concept_id": "C5397848", "aliases": ["Generalised-onset epileptic spasm", "Generalized onset epileptic spasm", "Generalised onset epileptic spasm"], "types": ["T047"], "canonical_name": "Generalized-onset epileptic spasm", "definition": "A type of epileptic spasm of generalized onset. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397849", "aliases": ["Focal onset epileptic spasm"], "types": ["T047"], "canonical_name": "Focal-onset epileptic spasm", "definition": "A type of epileptic spasm of focal onset. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397850", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness epileptic spasm", "definition": "A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397851", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware epileptic spasm", "definition": "A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397852", "aliases": [], "types": ["T047"], "canonical_name": "Focal motor seizure with negative myoclonus", "definition": "A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure. [PMID:28276060]"} {"concept_id": "C5397853", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness hemifacial clonic seizure", "definition": "Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397854", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with neglect", "definition": "A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397855", "aliases": [], "types": ["T047"], "canonical_name": "Aphasic status epilepticus", "definition": "Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit. [PMID:26336950]"} {"concept_id": "C5397856", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with expressive dysphasia/aphasia", "definition": "A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397857", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware sensory seizure with visual features", "definition": "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis. [PMID:28276060]"} {"concept_id": "C5397858", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia", "definition": "A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397859", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness sensory seizure with hot-cold sensations", "definition": "A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397860", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware hemifacial clonic seizure", "definition": "Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397861", "aliases": ["Photically induced myoclonic-tonic-clonic seizure"], "types": ["T047"], "canonical_name": "Photosensitive myoclonic-tonic-clonic seizure", "definition": "Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light. [PMID:28276060]"} {"concept_id": "C5397862", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware bilateral motor seizure", "definition": "A type of focal bilateral motor seizure during which awareness is fully retained throughout. [PMID:28276060]"} {"concept_id": "C5397863", "aliases": ["Focal motor aware seizure with negative myoclonus"], "types": ["T047"], "canonical_name": "Focal aware motor seizure with negative myoclonus", "definition": "A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397864", "aliases": ["Focal motor impaired awareness seizure with negative myoclonus"], "types": ["T047"], "canonical_name": "Focal impaired awareness motor seizure with negative myoclonus", "definition": "A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397865", "aliases": ["Focal motor impaired awareness seizure with paresis/paralysis"], "types": ["T047"], "canonical_name": "Focal impaired awareness motor seizure with paresis/paralysis", "definition": "A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397866", "aliases": ["Focal non-convulsive status epilepticus with impairment of awareness"], "types": ["T047"], "canonical_name": "Focal non-convulsive status epilepticus with impairment of consciousness", "definition": "Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired. [PMID:28276060]"} {"concept_id": "C5397867", "aliases": ["Focal inhibitory status epilepticus"], "types": ["T047"], "canonical_name": "Status epilepticus with ictal paresis", "definition": "A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures. [PMID:17116038, PMID:25667883, PMID:26336950]"} {"concept_id": "C5397868", "aliases": ["Simple absence status epilepticus"], "types": ["T047"], "canonical_name": "Typical absence status epilepticus", "definition": "Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure. [PMID:26336950]"} {"concept_id": "C5397869", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware sensory seizure with auditory features", "definition": "A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397870", "aliases": [], "types": ["T047"], "canonical_name": "Myoclonic absence status epilepticus", "definition": "Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG. [PMID:26336950]"} {"concept_id": "C5397871", "aliases": [], "types": ["T047"], "canonical_name": "Oculoclonic status epilepticus", "definition": "A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges. [PMID:11967176, PMID:26336950, PMID:2912713]"} {"concept_id": "C5397872", "aliases": [], "types": ["T047"], "canonical_name": "Refractory status epilepticus", "definition": "Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine. [PMID:19817823]"} {"concept_id": "C5397873", "aliases": [], "types": ["T047"], "canonical_name": "Super-refractory status epilepticus", "definition": "Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent. [PMID:21914716]"} {"concept_id": "C5397874", "aliases": ["Focal non-convulsive status epilepticus with retained awareness", "Focal non-convulsive status epilepticus without impairment of awareness", "Aura continua"], "types": ["T047"], "canonical_name": "Focal non-convulsive status epilepticus without impairment of consciousness", "definition": "Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact. [PMID:26336950]"} {"concept_id": "C5397875", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with dyslexia/alexia", "definition": "A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397876", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with hallucination", "definition": "A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397877", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with illusion", "definition": "A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397878", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware sensory seizure with cephalic sensation", "definition": "A seizure characterized by a sensation in the head such as light-headedness or headache. [PMID:28276060]"} {"concept_id": "C5397879", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with auditory agnosia", "definition": "A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397881", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with conduction dysphasia/aphasia", "definition": "A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397882", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware sensory seizure with hot-cold sensations", "definition": "A seizure characterized by sensations of feeling hot and then cold. [PMID:28276060]"} {"concept_id": "C5397883", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness sensory seizure with cephalic sensation", "definition": "A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397884", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness seizure with dissociation at onset", "definition": "A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397885", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness sensory seizure with auditory features", "definition": "A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397887", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with deja vu/jamais vu", "definition": "A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397888", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware cognitive seizure with deja vu/jamais vu", "definition": "A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397889", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware sensory seizure with somatosensory features", "definition": "A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397890", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with hallucination", "definition": "A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397891", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia", "definition": "A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397892", "aliases": ["Generalised atonic seizure"], "types": ["T047"], "canonical_name": "Generalized atonic seizure", "definition": "Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397893", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness cognitive seizure with forced thinking", "definition": "A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397894", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware sensory seizure with gustatory features", "definition": "A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes. [PMID:28276060]"} {"concept_id": "C5397895", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness sensory seizure with somatosensory features", "definition": "A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397896", "aliases": ["Focal motor aware seizure with version"], "types": ["T047"], "canonical_name": "Focal aware motor seizure with version", "definition": "A focal motor seizure with version characterized by retained awareness throughout the seizure. [PMID:28276060]"} {"concept_id": "C5397897", "aliases": [], "types": ["T047"], "canonical_name": "Infection-related seizure", "definition": "Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. [PMID:28276060]"} {"concept_id": "C5397898", "aliases": [], "types": ["T047"], "canonical_name": "Gastroenteritis-related afebrile seizure", "definition": "Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause. [PMID:12453597, PMID:29935410]"} {"concept_id": "C5397899", "aliases": ["Fever induced seizure"], "types": ["T047"], "canonical_name": "Seizure precipitated by febrile infection", "definition": "Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. [PMID:28276060]"} {"concept_id": "C5397900", "aliases": [], "types": ["T047"], "canonical_name": "Febrile seizure outside the age of 3 months to 6 years", "definition": "Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure. [PMID:30078767, PMID:9126059]"} {"concept_id": "C5397901", "aliases": [], "types": ["T047"], "canonical_name": "Music-induced seizure", "definition": "Seizure precipitated by listening to music or other complex sounds. [PMID:11422340]"} {"concept_id": "C5397902", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness sensory seizure with gustatory features", "definition": "A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]"} {"concept_id": "C5397903", "aliases": [], "types": ["T047"], "canonical_name": "Focal automatism seizure", "definition": "A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity. [PMID:11580774, PMID:28276060, PMID:28276064]"} {"concept_id": "C5397904", "aliases": [], "types": ["T047"], "canonical_name": "Focal orofacial automatism seizure", "definition": "A type of focal automatism seizure characterized by orofacial automatisms at onset. [PMID:28276060]"} {"concept_id": "C5397905", "aliases": [], "types": ["T047"], "canonical_name": "Focal manual automatism seizure", "definition": "A type of focal automatism seizure characterized by manual automatisms at onset. [PMID:28276060]"} {"concept_id": "C5397906", "aliases": [], "types": ["T047"], "canonical_name": "Focal pedal automatism seizure", "definition": "A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. [PMID:28276060]"} {"concept_id": "C5397907", "aliases": [], "types": ["T047"], "canonical_name": "Focal perseverative automatism seizure", "definition": "A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset. [PMID:28276060]"} {"concept_id": "C5397908", "aliases": [], "types": ["T047"], "canonical_name": "Focal vocal automatism seizure", "definition": "A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. [PMID:28276060]"} {"concept_id": "C5397909", "aliases": [], "types": ["T047"], "canonical_name": "Focal verbal automatism seizure", "definition": "A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset. [PMID:28276060]"} {"concept_id": "C5397910", "aliases": [], "types": ["T047"], "canonical_name": "Focal sexual automatism seizure", "definition": "A type of focal automatism seizure characterized by involuntary sexual behavior at onset. [PMID:28276060]"} {"concept_id": "C5397911", "aliases": [], "types": ["T047"], "canonical_name": "Focal head nodding automatism seizure", "definition": "A type of focal automatism seizure characterized by involuntary head nodding at onset. [PMID:28276060]"} {"concept_id": "C5397912", "aliases": [], "types": ["T047"], "canonical_name": "Focal undressing automatism seizure", "definition": "A type of focal automatism seizure characterized by involuntary undressing at onset. [PMID:28276060]"} {"concept_id": "C5397913", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware undressing automatism seizure", "definition": "A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout. [PMID:28276060]"} {"concept_id": "C5397914", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness automatism seizure", "definition": "A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060, PMID:28276064]"} {"concept_id": "C5397915", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware automatism seizure", "definition": "A type of focal automatism seizure during which awareness is fully retained throughout. [PMID:28276060]"} {"concept_id": "C5397916", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware orofacial automatism seizure", "definition": "A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout. [PMID:28276060]"} {"concept_id": "C5397917", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware manual automatism seizure", "definition": "A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout. [PMID:28276060]"} {"concept_id": "C5397918", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware pedal automatism seizure", "definition": "A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. [PMID:28276060]"} {"concept_id": "C5397919", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware perseverative automatism seizure", "definition": "A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout. [PMID:28276060]"} {"concept_id": "C5397920", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware vocal automatism seizure", "definition": "A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout. [PMID:28276060]"} {"concept_id": "C5397921", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware verbal automatism seizure", "definition": "A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout. [PMID:28276060]"} {"concept_id": "C5397922", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware sexual automatism seizure", "definition": "A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout. [PMID:28276060]"} {"concept_id": "C5397923", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness orofacial automatism seizure", "definition": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset. [PMID:28276060]"} {"concept_id": "C5397924", "aliases": [], "types": ["T047"], "canonical_name": "Focal aware head nodding automatism seizure", "definition": "A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout. [PMID:28276060]"} {"concept_id": "C5397925", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness manual automatism seizure", "definition": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset. [PMID:28276060]"} {"concept_id": "C5397926", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness pedal automatism seizure", "definition": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. [PMID:28276060]"} {"concept_id": "C5397927", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness perseverative automatism seizure", "definition": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset. [PMID:28276060]"} {"concept_id": "C5397928", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness vocal automatism seizure", "definition": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. [PMID:28276060]"} {"concept_id": "C5397929", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness verbal automatism seizure", "definition": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset. [PMID:28276060]"} {"concept_id": "C5397930", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness sexual automatism seizure", "definition": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset. [PMID:28276060]"} {"concept_id": "C5397931", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness head nodding automatism seizure", "definition": "A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset. [PMID:28276060]"} {"concept_id": "C5397932", "aliases": [], "types": ["T047"], "canonical_name": "Focal impaired awareness undressing automatism seizure", "definition": "A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset. [PMID:28276060]"} {"concept_id": "C5397933", "aliases": [], "types": ["T033"], "canonical_name": "Elevated CSF neurofilamant light chain", "definition": "Definition: Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. [PMID:31182505]"} {"concept_id": "C5397934", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal chondrocyte morphology", "definition": "Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage. []"} {"concept_id": "C5397935", "aliases": [], "types": ["T033"], "canonical_name": "Lacunar halos around chondrocytes", "definition": "Concentric rings around the chondrocytes. [PMID:8571951]"} {"concept_id": "C5397937", "aliases": ["Elevated circulating pancreatic triacylglycerol lipase activity"], "types": ["T033"], "canonical_name": "Increased circulating pancreatic triacylglycerol lipase level", "definition": "An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma). [PMID:28431198]"} {"concept_id": "C5397939", "aliases": ["Re-experiencing symptom"], "types": ["T048"], "canonical_name": "Intrusion symptom", "definition": "Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context. [PMID:15487537]"} {"concept_id": "C5397940", "aliases": [], "types": ["T048"], "canonical_name": "Recurrent, involuntary and intrusive distressing memories", "definition": "After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory. [PMID:30293686]"} {"concept_id": "C5397941", "aliases": [], "types": ["T048"], "canonical_name": "Recurrent trauma-related distressing dreams", "definition": "Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events. [PMID:17431265]"} {"concept_id": "C5397942", "aliases": [], "types": ["T048"], "canonical_name": "Physiological reactivity to cues", "definition": "Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s). [PMID:26611143]"} {"concept_id": "C5397943", "aliases": [], "types": ["T048"], "canonical_name": "Intense psychological distress to cues", "definition": "Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events. [PMID:17431265]"} {"concept_id": "C5397944", "aliases": [], "types": ["T033"], "canonical_name": "Avoidance of stimuli associated with traumatic event", "definition": "Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). [PMID:17431265]"} {"concept_id": "C5397945", "aliases": [], "types": ["T033"], "canonical_name": "Alkaline urine", "definition": "Urine pH of 8 or higher. []"} {"concept_id": "C5397946", "aliases": [], "types": ["T046"], "canonical_name": "Renal interstitial inflammation", "definition": "Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. [KPMP:arosenberg]"} {"concept_id": "C5397947", "aliases": [], "types": ["T046"], "canonical_name": "Renal cortical interstitial inflammation", "definition": "Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. [KPMP:arosenberg]"} {"concept_id": "C5397948", "aliases": [], "types": ["T046"], "canonical_name": "Renal medullary interstitial inflammation", "definition": "Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. [KPMP:arosenberg]"} {"concept_id": "C5397949", "aliases": [], "types": ["T033"], "canonical_name": "Renal interstitial calcium phosphate deposits", "definition": "The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. [KPMP:arosenberg, PMID:21804087]"} {"concept_id": "C5397950", "aliases": ["Abnormal renal tubular luminal morphology"], "types": ["T190"], "canonical_name": "Abnormal renal tubular lumen morphology", "definition": "Abnormal structure or form of the lumen (opening) of kidney tubules. [PMID:23101152]"} {"concept_id": "C5397951", "aliases": [], "types": ["T033"], "canonical_name": "Renal tubular viral cytopathic changes", "definition": "Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. [PMID:21436288, PMID:29273157]"} {"concept_id": "C5397952", "aliases": ["Common-type renal tubular atrophy"], "types": ["T047"], "canonical_name": "Usual-type tubular atrophy", "definition": "A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. [PMID:7906246]"} {"concept_id": "C5397953", "aliases": [], "types": ["T033"], "definition": "Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. []", "canonical_name": "Renal tubular cytomegalovirus inclusions"} {"concept_id": "C5397954", "aliases": [], "types": ["T033"], "canonical_name": "Renal tubular adenovirus inclusions", "definition": "Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage. [KPMP:arosenberg, PMID:29273157]"} {"concept_id": "C5397955", "aliases": [], "types": ["T033"], "canonical_name": "Renal tubular polyoma virus inclusions", "definition": "Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. []"} {"concept_id": "C5397956", "aliases": [], "types": ["T033"], "canonical_name": "Renal tubular herpes simplex virus inclusions", "definition": "Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. [KPMP:arosenberg, PMID:27884285]"} {"concept_id": "C5397957", "aliases": ["Acanthocyturia"], "types": ["T033"], "canonical_name": "Dysmorphic hematuria", "definition": "The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. [PMID:16362157]"} {"concept_id": "C5397958", "aliases": [], "types": ["T033"], "canonical_name": "Intratubular calcium oxalate casts", "definition": "Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5397959", "aliases": [], "types": ["T033"], "canonical_name": "Intratubular calcium phosphate casts", "definition": "Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5397960", "aliases": [], "types": ["T033"], "canonical_name": "Tubular microcystic change", "definition": "Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. []"} {"concept_id": "C5397961", "aliases": [], "types": ["T033"], "canonical_name": "Expiratory air trapping", "definition": "Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration. [LMU:crapp, PMID:10524809, PMID:18195376, PMID:7972745]"} {"concept_id": "C5397962", "aliases": [], "types": ["T047"], "canonical_name": "Traction bronchiolectasis"} {"concept_id": "C5397963", "aliases": ["CT halo sign"], "types": ["T033"], "canonical_name": "Computed tomographic halo sign", "definition": "CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm. [LMU:mgriese, PMID:18195376, PMID:3864189]"} {"concept_id": "C5397964", "aliases": [], "types": ["T033"], "canonical_name": "Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT", "definition": "A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases. [LMU:kknoflach]"} {"concept_id": "C5397965", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal bronchoalveolar lavage fluid morphology", "definition": "Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions. [LMU:mgriese]"} {"concept_id": "C5397966", "aliases": ["Abnormal cell differential of broncho-alveolar fluid"], "types": ["T033"], "canonical_name": "Abnormal cellular composition of bronchoalveolar fluid", "definition": "Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. [ISBN:0412792702, LMU:mgriese, PMID:10678650, PMID:3396403]"} {"concept_id": "C5397967", "aliases": ["Abnormal biochemical composition of broncho-alveolar fluid", "Abnormal level of proteins in the broncho-alveolar fluid"], "types": ["T033"], "canonical_name": "Abnormal bronchoalveolar fluid protein level", "definition": "Any deviation from the normal concentration of protein in the bronchoalveolar fluid. []"} {"concept_id": "C5397968", "aliases": [], "types": ["T033"], "canonical_name": "Elevated bronchoalveolar lavage fluid lymphocyte proportion", "definition": "Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases. [ISBN:0412792702, LMU:kknoflach, PMID:10678650, PMID:3396403]"} {"concept_id": "C5397969", "aliases": ["Elevated level of neutrophils in broncho-alveolar lavage fluid"], "types": ["T033"], "canonical_name": "Elevated bronchoalveolar lavage fluid neutrophil proportion", "definition": "Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases. [ISBN:0412792702, LMU:kknoflach, PMID:10678650, PMID:3396403]"} {"concept_id": "C5397970", "aliases": [], "types": ["T033"], "canonical_name": "Lipid-laden macrophages in bronchoalveolar fluid", "definition": "Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions. [ISBN:0412792702, LMU:kknoflach, PMID:11757629]"} {"concept_id": "C5397971", "aliases": ["Accumulation of hemosiderin laden alveolar macrophages", "Siderophages in bronchoalveolar fluid"], "types": ["T033"], "canonical_name": "Hemosiderin-laden macrophages in bronchoalveolar fluid", "definition": "Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP). [LMU:mgriese, PMID:16871595, PMID:23678356, PMID:25515792, PMID:28166761]"} {"concept_id": "C5397972", "aliases": [], "types": ["T033"], "canonical_name": "Absent bronchoalveolar surfactant-protein C", "definition": "Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region. [LMU:crapp, PMID:26375475]"} {"concept_id": "C5397973", "aliases": [], "types": ["T033"], "canonical_name": "Absent bronchoalveolar dimeric surfactant-protein B", "definition": "Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid. [LMU:kknoflach, PMID:26375475]"} {"concept_id": "C5397975", "aliases": ["Atoll sign"], "types": ["T184"], "definition": "CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis. [LMU:crapp, PMID:10414267, PMID:15908556, PMID:22553298]", "canonical_name": "Reversed halo sign"} {"concept_id": "C5397976", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal alveolar macrophage morphology", "definition": "Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles. [ISBN:0412792702., LMU:mgriese]"} {"concept_id": "C5397977", "aliases": [], "types": ["T033"], "canonical_name": "Dust particle inclusion in alveolar macrophages", "definition": "Accumulation of inhaled, nondigestable particles in macrophages. [ISBN:0412792702, LMU:mgriese, PMID:3740951]"} {"concept_id": "C5397978", "aliases": [], "types": ["T033"], "canonical_name": "Smoker-inclusions in alveolar macrophages", "definition": "In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits. [ISBN:0412792702, LMU:mgriese]"} {"concept_id": "C5397979", "aliases": [], "types": ["T033"], "canonical_name": "Elevated bronchoalveolar lavage fluid eosinophil proportion", "definition": "Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced. [ISBN:0412792702, LMU:mgriese, PMID:10678650, PMID:3396403]"} {"concept_id": "C5397980", "aliases": [], "types": ["T033"], "canonical_name": "Delayed ability to roll over", "definition": "Delayed ahcievement of the ability to roll front to back and back to front. []"} {"concept_id": "C5397981", "aliases": ["Localised pulmonary haemorrhage"], "types": ["T046"], "canonical_name": "Localized pulmonary hemorrhage", "definition": "Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder. [LMU:kknoflach]"} {"concept_id": "C5397982", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal pulmonary fissure morphology", "definition": "An abnormal form or number of the pulmonary fissures. [LMU:mgriese]"} {"concept_id": "C5397983", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal pulmonary fissure architecture", "definition": "An abnormal form or location of a pulmonary fissure. []"} {"concept_id": "C5397984", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal pulmonary fissure count", "definition": "A deviation from the normal number of pulmonary fissures. []"} {"concept_id": "C5397985", "aliases": ["increased pulmonary fissure count"], "types": ["T190"], "canonical_name": "Supernumerary pulmonary fissure", "definition": "Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes. []"} {"concept_id": "C5397986", "aliases": ["Reduced pulmonary fissure count"], "types": ["T190"], "canonical_name": "Decreased pulmonary fissure count", "definition": "Lack of one or more of the normal pulmonary fissures. []"} {"concept_id": "C5397987", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal cystatin C level", "definition": "Any deviation from the normal concentration of cystatin C in serum or plasma. [ORCID:0000-0002-8169-9049, PMID:24570004]"} {"concept_id": "C5397988", "aliases": [], "types": ["T033"], "canonical_name": "Decreased cystatin C level", "definition": "A decreased concentration of cystatin C in the blood circulation. [ORCID:0000-0002-8169-9049, PMID:24570004]"} {"concept_id": "C5397989", "aliases": [], "types": ["T033"], "canonical_name": "Increased cystatin C level", "definition": "A elevated concentration of cystatin C in the blood circulation. [ORCID:0000-0002-8169-9049, PMID:24570004]"} {"concept_id": "C5397990", "aliases": ["Increased faecal porphyrin"], "types": ["T033"], "canonical_name": "Increased fecal porphyrin", "definition": "Abnormally high concentration of fecal porphyrins in feces. [ORCID:0000-0002-8169-9049, PMID:25372274]"} {"concept_id": "C5397991", "aliases": [], "types": ["T191"], "canonical_name": "Bronchial papilloma", "definition": "A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction."} {"concept_id": "C5397992", "aliases": [], "types": ["T047"], "canonical_name": "Palmar warts", "definition": "Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV). [PMID:17210977]"} {"concept_id": "C5397993", "aliases": [], "types": ["T190"], "canonical_name": "Architectural distortion of the lung", "definition": "Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss. [LMU:mgriese, PMID:25489125]"} {"concept_id": "C5397994", "aliases": ["Increased Z-disk width", "Widened z-discs"], "types": ["T033"], "canonical_name": "Increased Z-disc width", "definition": "Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005). []"} {"concept_id": "C5397995", "aliases": ["Elevated faecal coproporphyrin 1", "High stool coproporphyrin 1", "Increased faecal coproporphyrin 1", "High fecal coproporphyrin 1", "Elevated stool coproporphyrin 1", "High faecal coproporphyrin 1", "Elevated fecal coproporphyrin 1"], "types": ["T033"], "canonical_name": "Increased fecal coproporphyrin 1", "definition": "Abnormally high concentration of coproporphyrin 3 in feces. [ORCID:0000-0002-8169-9049, PMID:3327428]"} {"concept_id": "C5397996", "aliases": ["Increased faecal coproporphyrin 3", "High fecal coproporphyrin 3", "Elevated faecal coproporphyrin 3", "Elevated fecal coproporphyrin 3", "High faecal coproporphyrin 3", "High stool coproporphyrin 3", "Elevated stool coproporphyrin 3"], "types": ["T033"], "canonical_name": "Increased fecal coproporphyrin 3", "definition": "Abnormally high concentration of coproporphyrin 3 in feces [ORCID:0000-0002-8169-9049, PMID:3327428]"} {"concept_id": "C5397997", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal salivary metabolite concentration", "definition": "Any deviation from the normal concentration of a metabolite in saliva. []"} {"concept_id": "C5397998", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal salivary cortisol level", "definition": "Any deviation from the normal concentration of cortisol in saliva. [ORCID:0000-0002-8169-9049, PMID:18280810, PMID:19602555]"} {"concept_id": "C5397999", "aliases": [], "types": ["T033"], "canonical_name": "Decreased salivary cortisol level", "definition": "Abnormally reduced concentration of cortisol in saliva. [ORCID:0000-0002-8169-9049, PMID:18280810, PMID:19602555]"} {"concept_id": "C5398000", "aliases": [], "types": ["T033"], "canonical_name": "Increased salivary cortisol level", "definition": "Abnormally elevated concentration of cortisol in saliva. [ORCID:0000-0002-8169-9049, PMID:18280810, PMID:19602555]"} {"concept_id": "C5398001", "aliases": ["Chronic decreased IgM in blood"], "types": ["T033"], "canonical_name": "Chronic decreased circulating IgD", "definition": "A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood. []"} {"concept_id": "C5398002", "aliases": ["Transient decreaseed IgD in blood"], "types": ["T033"], "canonical_name": "Transient decreased circulating IgD", "definition": "A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation. []"} {"concept_id": "C5398003", "aliases": ["Chronic (near) absent IgM in blood"], "types": ["T033"], "canonical_name": "Chronic absent circulating IgD", "definition": "A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured. []"} {"concept_id": "C5398004", "aliases": ["Transient decreased IgE in blood"], "types": ["T033"], "canonical_name": "Transient decreased circulating IgE", "definition": "A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood. []"} {"concept_id": "C5398005", "aliases": ["Chronic decreased IgE in blood"], "types": ["T033"], "canonical_name": "Chronic decreased circulating IgE", "definition": "A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood. []"} {"concept_id": "C5398006", "aliases": ["Chronic (near) absent IgE in blood"], "types": ["T033"], "canonical_name": "Chronic absent circulating IgE", "definition": "A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured. []"} {"concept_id": "C5398007", "aliases": [], "types": ["T033"], "canonical_name": "Transient decreased circulating IgA", "definition": "A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation. []"} {"concept_id": "C5398008", "aliases": ["Chronic (near) absent total IgG in blood"], "types": ["T033"], "canonical_name": "Chronic absent circulating total IgG", "definition": "A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured. []"} {"concept_id": "C5398009", "aliases": [], "types": ["T033"], "canonical_name": "White oral mucosal macule", "definition": "A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed. [PMID:23762643]"} {"concept_id": "C5398010", "aliases": [], "types": ["T034"], "canonical_name": "Anti-Jo-1 antibody positivity", "definition": "The presence of autoantibodies in the serum that react to the histidyl-tRNA-synthetase. [LMU:kknoflach, PMID:26210509]"} {"concept_id": "C5398011", "aliases": ["Renal tubule cyst"], "types": ["T190"], "canonical_name": "Renal tubular cyst", "definition": "Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. [ORCID:0000-0002-0736-9199]"} {"concept_id": "C5398012", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal cervical spine morphology", "definition": "Any morphological abnormality of the cervical vertebral column. []"} {"concept_id": "C5398013", "aliases": ["Abnormal proportion of circulating T-helper cells"], "types": ["T033"], "canonical_name": "Abnormal helper T cell proportion", "definition": "Abnormal proportion of helper T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C5398014", "aliases": ["Elevated helper T cell proportion", "Increased proportion T-helper cells"], "types": ["T033"], "canonical_name": "Increased helper T cell proportion", "definition": "Increased proportion of helper T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C5398015", "aliases": ["Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated"], "types": ["T033"], "canonical_name": "Increased proportion of CD8-positive, alpha-beta TEMRA T cells", "definition": "An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. [PMID:15838378]"} {"concept_id": "C5398016", "aliases": ["Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated"], "types": ["T033"], "canonical_name": "Decreased proportion of CD8-positive, alpha-beta TEMRA T cells", "definition": "An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. [PMID:15838378]"} {"concept_id": "C5398017", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal proportion of CD4-positive helper T cells", "definition": "An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count. []"} {"concept_id": "C5398018", "aliases": ["Abnormal proportion of gammadelta T cells", "Abnormal proprotion of gamma-delta T lymphocytes", "Abnormal proportion of gamma-delta T-lymphocytes"], "types": ["T033"], "canonical_name": "Abnormal proportion of gamma-delta T cells", "definition": "Abnormal proportion of gamma-delta T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C5398019", "aliases": ["Increased proportion of gamma-delta T lymphocytes", "Increased proportion of gamma-delta T-cells", "Increased proportion of gammadelta T cells", "Elevated proportion of gamma-delta T cells", "Increased proportion of gamma-delta T-lymphocytes"], "types": ["T033"], "canonical_name": "Increased proportion of gamma-delta T cells", "definition": "Increased proportion of gamma-delta T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C5398020", "aliases": ["Decreased proportion of gamma-delta T-lymphocytes", "Reduced proportion of gamma-delta T cells", "Decreased proportion of gammadelta T cells", "Decreased proportion of gamma-delta T lymphocytes", "Decreased proportion of gamma-delta T-cells"], "types": ["T033"], "canonical_name": "Decreased proportion of gamma-delta T cells", "definition": "Decreased proportion of gamma-delta T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C5398021", "aliases": ["Abnormal proportion of immature gamma-delta T lymphocytes", "Abnormal proportion of immature gamma-delta T-lymphocytes", "Abnormal proportion of immature gamma-delta T-cells"], "types": ["T033"], "canonical_name": "Abnormal proportion of immature gamma-delta T cells", "definition": "Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C5398022", "aliases": ["Increased proportion of immature gamma-delta T-cells", "Increased proportion of immature gamma-delta T-lymphocytes", "Increased proportion of immature gamma-delat T lymphocytes", "Elevated proportion of immature gamma-delta T cells"], "types": ["T033"], "canonical_name": "Increased proportion of immature gamma-delta T cells", "definition": "Increased proportion of immature gamma-delta T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C5398023", "aliases": ["Reduced proportion of immature gamma-delta T cells", "Decreased proportion of immature gamma-delta T-cells", "Decreased proportion of immature gamma-delta T-lymphocytes", "Decreased proportion of immature gamma-delta T lymphocytes"], "types": ["T033"], "canonical_name": "Decreased proportion of immature gamma-delta T cells", "definition": "Decreased proportion of immature gamma-delta T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]"} {"concept_id": "C5398024", "aliases": [], "types": ["T033"], "canonical_name": "Renal interstitial calcium oxalate", "definition": "The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. [PMID:23221343]"} {"concept_id": "C5398025", "aliases": [], "types": ["T033"], "canonical_name": "Retinal peau d'orange", "definition": "A pebbly orange appearance of the fundus that is said to resemble the skin of an orange. [PMID:25526100]"} {"concept_id": "C5398026", "aliases": [], "types": ["T047"], "canonical_name": "Tonic status epilepticus", "definition": "Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal. [ORCID:0000-0002-1735-8178, PMID:26336950]"} {"concept_id": "C5399759", "aliases": [], "types": ["T033"], "definition": "Rupture of the tendons in the ROTATOR CUFF of the shoulder joint due to injury.", "canonical_name": "Rotator cuff tear"} {"concept_id": "C5399764", "aliases": ["Abnormality of the rectum", "Anomaly of the rectum"], "types": ["T190"], "canonical_name": "Abnormal rectum morphology", "definition": "An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. [HPO:probinson]"} {"concept_id": "C5399765", "aliases": ["High blood arginine levels", "Increased blood arginine concentration"], "types": ["T033"], "definition": "An increased amount of arginine levels in the blood. [http://orcid.org/0000-0001-7941-2961]", "canonical_name": "Hyperargininemia"} {"concept_id": "C5399766", "aliases": ["High urine histidine levels", "Elevated histidine in urine"], "types": ["T033"], "definition": "An increased concentration of histidine in the urine. [HPO:probinson, PMID:18901181, PMID:20240447]", "canonical_name": "Histidinuria"} {"concept_id": "C5399780", "aliases": ["Abnormal specific antibody response", "Specific antibody deficiency", "Decreased circulating level of specific antibody"], "types": ["T033"], "definition": "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism. [HPO:probinson, PMID:17100769]", "canonical_name": "Decreased specific antibody in blood"} {"concept_id": "C5399823", "aliases": ["Turricephalus", "Tall shaped head", "Tower cranium shape", "Tower skull shape", "Tall shaped skull", "Tall shaped cranium"], "types": ["T019"], "definition": "Tall head relative to width and length. [PMID:19125436]", "canonical_name": "Turricephaly"} {"concept_id": "C5399834", "aliases": ["Abnormal feet structure", "Abnormality of the foot", "Abnormality of the feet"], "types": ["T190"], "canonical_name": "Abnormal foot morphology", "definition": "An abnormality of the skeleton of foot. [HPO:probinson]"} {"concept_id": "C5399840", "aliases": ["Abnormal lung parenchyma morphology"], "types": ["T190"], "canonical_name": "Abnormality in area between air sacs in lung"} {"concept_id": "C5399852", "aliases": ["Inlet ventricular septal defect", "Type 3 ventricular septal defect"], "types": ["T019"], "definition": "A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. [DDD:dbrown, PMID:17101870]", "canonical_name": "Atrioventricular canal type ventricular septal defect"} {"concept_id": "C5399871", "aliases": ["bone phalanx"], "types": ["T037"], "definition": "A partial or complete breakage of the phalanx. []", "canonical_name": "Fractured phalanx"} {"concept_id": "C5399950", "aliases": ["Imidodipeptiduria"], "types": ["T033"], "definition": "Elevated levels of proline-containing dipeptides in urine. [PMID:9196362]", "canonical_name": "Hyperimidodipeptiduria"} {"concept_id": "C5399972", "aliases": ["Hearing loss, sensorineural, bilateral, progressive", "Progressive bilateral sensorineural hearing loss"], "types": ["T047"], "canonical_name": "Bilateral progressive sensorineural hearing loss"} {"concept_id": "C5399973", "aliases": ["Periventricular neuronal heterotopia", "Subependymal gray matter heterotopia", "Periventricular heterotopia", "Subependymal grey matter heterotopia", "Periventricular gray matter heterotopia", "Subependymal neuronal heterotopia"], "types": ["T047"], "definition": "A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. [HPO:probinson, PMID:22427329]", "canonical_name": "Periventricular grey matter heterotopia"} {"concept_id": "C5399976", "aliases": ["Isovalericacidemia", "Increased circulating isovalerate"], "types": ["T033"], "definition": "Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration. []", "canonical_name": "Increased circulating isovaleric acid concentration"} {"concept_id": "C5399981", "aliases": [], "types": ["T047"], "canonical_name": "Bilateral congenital sensorineural deafness"} {"concept_id": "C5400262", "aliases": [], "types": ["T020"], "canonical_name": "Paratracheal air cyst"} {"concept_id": "C5400698", "aliases": ["Alveolar proteinosis", "Detection of PAS-positive extracellular material in broncho-alveolar lavage", "Intraalveolar phospholipid accumulation"], "types": ["T033"], "definition": "Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. [HPO:probinson, PMID:21900000, PMID:22891182]", "canonical_name": "Pulmonary alveolar proteinosis"} {"concept_id": "C5419463", "aliases": ["Chilblain-like toes", "Chilblain-like toe lesions", "COVID toe"], "types": ["T033"], "canonical_name": "Pseudo-chilblains on toes", "definition": "A self-limited dermatologic manifestation seen on the toes of some patients with COVID-19 that resembles chilblains (perniosis). The lesions may be pink, red, blue or purple and have a similar appearance to frostbite. It appears to resolve once the infection has been cleared."} {"concept_id": "C5421557", "aliases": [], "types": ["T046"], "canonical_name": "Abnormality of musculoskeletal physiology", "definition": "An abnormality of the function of the skeletal system. [HPO:probinson]"} {"concept_id": "C5421558", "aliases": [], "types": ["T033"], "canonical_name": "Elevated total serum tryptase", "definition": "An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation. [PMID:16372800, PMID:19522836, PMID:25169217, PMID:27749843, PMID:3295549]"} {"concept_id": "C5421559", "aliases": ["Anti-U1-RNP antibody positivity", "Anti-RNP-antibodies"], "types": ["T034"], "canonical_name": "Anti-U1 ribonucleoprotein antibody positivity", "definition": "The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP. [LMU:chrapp, PMID:15804705, PMID:29796907]"} {"concept_id": "C5421560", "aliases": ["Anti-GBM-antibody positivity"], "types": ["T034"], "canonical_name": "Anti-glomerular basement membrane-antibody positivity", "definition": "The presence of autoantibodies in the serum that react to the glomerular basement membrane. [LMU:kknoflach, PMID:20660402]"} {"concept_id": "C5421561", "aliases": [], "types": ["T033"], "canonical_name": "Triggered by an abusive adult", "definition": "Applies to a sign or symptom that is induced by an abusive adult (usually a parent). [LMU:chrapp, PMID:29938745]"} {"concept_id": "C5421562", "aliases": ["Increased level of anti-melanoma differentiation-associated protein 5 antibodies"], "types": ["T034"], "canonical_name": "Anti-MDA5 antibody positivity", "definition": "The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5). [LMU:kknoflach, PMID:32270621]"} {"concept_id": "C5421563", "aliases": [], "types": ["T034"], "canonical_name": "Anti-citrullinated protein antibody positivity", "definition": "The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen. [LMU:mgriese, PMID:21713412, PMID:27824549]"} {"concept_id": "C5421564", "aliases": ["Abnormal neurilemmocyte morphology", "Abnormal neurilemmal cell morphology"], "types": ["T033"], "canonical_name": "Abnormal Schwann cell morphology", "definition": "Abormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function. [ORCID:0000-0002-9553-7227, PMID:31760652]"} {"concept_id": "C5421565", "aliases": [], "types": ["T034"], "canonical_name": "Anti-RNA-polymerase-III-autoantibody positivity", "definition": "The presence of autoantibodies in the serum that react to RNA-polymerase III. [LMU:chrapp, PMID:31858335]"} {"concept_id": "C5421566", "aliases": ["Increased level of antigen-precipitating IgG antibodies"], "types": ["T033"], "canonical_name": "Increased circulating precipitin level", "definition": "The presence of high titers of antigen-precipitating IgG in the serum. [LMU:chrapp, PMID:22796841, PMID:26310038]"} {"concept_id": "C5421567", "aliases": ["Anti-Smith autoantibody"], "types": ["T033"], "definition": "The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles. [LMU:kknoflach, PMID:31552434]", "canonical_name": "Anti-Sm antibody positivity"} {"concept_id": "C5421568", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal chorion morphology", "definition": "Any structural anomaly of the fetal part of the placenta, which is known as the chorion. [PMID:18755720]"} {"concept_id": "C5421569", "aliases": ["Bipedal oedema"], "types": ["T046"], "canonical_name": "Bipedal edema", "definition": "A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid). []"} {"concept_id": "C5421570", "aliases": ["Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI)"], "types": ["T033"], "canonical_name": "Substantia nigra hypointensity on susceptibility-weighted imaging", "definition": "Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI). []"} {"concept_id": "C5421571", "aliases": [], "types": ["T033"], "canonical_name": "Globus pallidus hypointensity on susceptibility-weighted imaging", "definition": "Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI). []"} {"concept_id": "C5421572", "aliases": [], "types": ["T047"], "canonical_name": "Myoclonic tremor", "definition": "A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures. [PMID:29416935]"} {"concept_id": "C5421573", "aliases": ["Ineffective planning"], "types": ["T048"], "canonical_name": "Impaired ability to plan", "definition": "Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity. [HPO:nvasilevsky, NCIT:C121469, PMID:26039846]"} {"concept_id": "C5421574", "aliases": ["Impaired ability to organise"], "types": ["T048"], "canonical_name": "Impaired ability to organize", "definition": "Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine. [HPO:nvasilevsky, NCIT:C121469, PMID:26039846]"} {"concept_id": "C5421575", "aliases": [], "types": ["T033"], "canonical_name": "Decreased serum terminal complement component", "definition": "Reduced level of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9. [PMID:26841934]"} {"concept_id": "C5421576", "aliases": [], "types": ["T033"], "canonical_name": "Decreased serum complement C6", "definition": "A reduced level of the complement component C6 in the blood circulation. [PMID:10632667]"} {"concept_id": "C5421577", "aliases": [], "types": ["T033"], "canonical_name": "Decreased serum complement C5", "definition": "A reduced level of the complement component C5 in the blood circulation. [PMID:23371790]"} {"concept_id": "C5421578", "aliases": [], "types": ["T033"], "canonical_name": "Increased factor IX activity", "definition": "Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. [PMID:19846852]"} {"concept_id": "C5421579", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal factor IX activity", "definition": "Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. []"} {"concept_id": "C5421580", "aliases": ["Short sleep"], "types": ["T033"], "canonical_name": "Shortened sleep cycle", "definition": "A tendency to sleep less hours than usual while feeling well rested. [PMID:31473062]"} {"concept_id": "C5421581", "aliases": [], "types": ["T033"], "canonical_name": "Renal interstitial globotriaosylceramide inclusions", "definition": "Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). [PMID:32606714]"} {"concept_id": "C5421582", "aliases": [], "types": ["T033"], "canonical_name": "Mild albuminuria", "definition": "The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol). [PMID:30571025]"} {"concept_id": "C5421583", "aliases": ["Heavy albuminuria"], "types": ["T033"], "canonical_name": "Severe albuminuria", "definition": "The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol). [PMID:30571025]"} {"concept_id": "C5421584", "aliases": [], "types": ["T033"], "canonical_name": "Cystine crystalluria"} {"concept_id": "C5421585", "aliases": [], "types": ["T033"], "canonical_name": "Medication crystalluria", "definition": "A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. [PMID:8671802]"} {"concept_id": "C5421586", "aliases": [], "types": ["T033"], "canonical_name": "Renal interstitial IgG4+ plasma cell infiltration", "definition": "An increased number of IgG4+ plasma cells in the interstitial space of the kidney. [PMID:21719792, PMID:29359118]"} {"concept_id": "C5421587", "aliases": [], "types": ["T048"], "canonical_name": "Impaired self monitoring", "definition": "Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior. [NCIT:C121466, PMID:26039846]"} {"concept_id": "C5421588", "aliases": [], "types": ["T048"], "canonical_name": "Impaired task monitoring", "definition": "Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal. [NCIT:C121470, PMID:26039846]"} {"concept_id": "C5421589", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal macroscopic urine appearance", "definition": "Anomalous physical appearance (color, cloudiness, clarity) or odor of urine. []"} {"concept_id": "C5421590", "aliases": ["Abnormal circulating free thyroxine level"], "types": ["T033"], "canonical_name": "Abnormal circulating free T4 level", "definition": "A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects. [PMID:30725738]"} {"concept_id": "C5421591", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating free T4 level", "definition": "An elevated concentration of free thyroxine (fT4) in the blood circulation. []"} {"concept_id": "C5421592", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating free T4 level", "definition": "A reduced concentration of free thyroxine (fT4) in the blood circulation. []"} {"concept_id": "C5421593", "aliases": [], "types": ["T190"], "canonical_name": "Aplasia/Hypoplasia of the thyroid gland", "definition": "Absence or underdevelopment of the thyroid gland. []"} {"concept_id": "C5421594", "aliases": ["Abnormal TSH response to TRH stimulation test"], "types": ["T033"], "canonical_name": "Abnormal TSH response to thyrotrophin-releasing hormone stimulation test", "definition": "Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test. []"} {"concept_id": "C5421595", "aliases": [], "types": ["T033"], "canonical_name": "Absent TSH response to thyrotrophin-releasing hormone stimulation test", "definition": "Failure to increase serum TSH levels in response to a TRH stimulation test. [PMID:29935915]"} {"concept_id": "C5421596", "aliases": [], "types": ["T033"], "canonical_name": "Reduced TSH response to thyrotrophin-releasing hormone stimulation test", "definition": "A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test. []"} {"concept_id": "C5421597", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating farnesol concentration", "definition": "An elevated level of farnesol in the blood circulation. [PMID:29909962]"} {"concept_id": "C5421598", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal antral follicle count", "definition": "Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve. []"} {"concept_id": "C5421599", "aliases": [], "types": ["T033"], "canonical_name": "Reduced antral follicle count", "definition": "A count of antral follicles that is lower than normal for age. [PMID:30010909]"} {"concept_id": "C5421600", "aliases": [], "types": ["T033"], "canonical_name": "Increased antral follicle count", "definition": "A count of antral follicles that is higher than normal for age. [PMID:32656532]"} {"concept_id": "C5421601", "aliases": [], "types": ["T033"], "canonical_name": "Branched-chain aminoaciduria", "definition": "An increased level of a branched chain family amino acid in the urine. []"} {"concept_id": "C5421602", "aliases": [], "types": ["T033"], "canonical_name": "Increased aromatic amino acid level in urine", "definition": "An elevated level of an aromatic amino acid in the urine. []"} {"concept_id": "C5421603", "aliases": [], "types": ["T033"], "canonical_name": "Increased urine succinate level", "definition": "An increase in the level of succinate in the urine. [PMID:32942769]"} {"concept_id": "C5421604", "aliases": [], "types": ["T033"], "canonical_name": "Increased glutamine family amino acid level in urine", "definition": "An elevated level of an glutamine family amino acid in the urine. []"} {"concept_id": "C5421605", "aliases": ["Increased glutamic acid in urine"], "types": ["T033"], "canonical_name": "Increased urine glutamate level", "definition": "An increased concentration of glutamate in the urine. []"} {"concept_id": "C5421606", "aliases": ["Increased sulphur amino acid level in urine", "Increased sulfur-containing amino acid level in urine"], "types": ["T033"], "canonical_name": "Increased sulfur amino acid level in urine", "definition": "An elevated level of a sulfur-containing amino acid in the urine. []"} {"concept_id": "C5421607", "aliases": [], "types": ["T033"], "canonical_name": "Increased aspartate family amino acid level in urine", "definition": "An elevated level of an aspartate family amino acid in the urine. []"} {"concept_id": "C5421608", "aliases": [], "types": ["T033"], "canonical_name": "Increased urine proteinogenic amino acid derivative level", "definition": "An elevated urine level of a compound that is derived from an amino acid. []"} {"concept_id": "C5421609", "aliases": ["Elevated urinary non-proteinogenic amino acid level"], "types": ["T033"], "canonical_name": "Increased urinary non-proteinogenic amino acid level", "definition": "An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. []"} {"concept_id": "C5421610", "aliases": [], "types": ["T033"], "canonical_name": "Increased serine family amino acid in urine", "definition": "An increased level of a serine family amino acid in the urine. []"} {"concept_id": "C5421611", "aliases": [], "types": ["T033"], "canonical_name": "Increased proteinogenic amino acid level in urine", "definition": "An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. []"} {"concept_id": "C5421612", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urine aconitic acid level", "definition": "An abnormally increased level of aconitic acid in the urine. [PMID:30830355]"} {"concept_id": "C5421613", "aliases": ["Elevated circulating chitinase 3-like 1 level", "Elevated circulating YKL40 level"], "types": ["T033"], "canonical_name": "Elevated circulating CHI3L1 level", "definition": "Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation. [PMID:18182077, PMID:7577068]"} {"concept_id": "C5421614", "aliases": [], "types": ["T033"], "canonical_name": "Inappropriate absence of fever", "definition": "Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response. [PMID:31235509]"} {"concept_id": "C5421615", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating proteinogenic amino acid concentration", "definition": "An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. []"} {"concept_id": "C5421616", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating proteinogenic amino acid derivative concentration", "definition": "Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid. []"} {"concept_id": "C5421617", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating non-proteinogenic amino acid concentration", "definition": "Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. []"} {"concept_id": "C5421618", "aliases": ["Elevated circulating homoalanine concentration"], "types": ["T033"], "canonical_name": "Elevated circulating alpha-aminobutyric acid concentration", "definition": "An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2. [PMID:30561103]"} {"concept_id": "C5421619", "aliases": ["Increased urine 3-hydroxyisovaleric acid level"], "types": ["T033"], "canonical_name": "3-hydroxyisovaleric aciduria", "definition": "Concentration of 3-hydroxyisovaleric acid in the urine above the normal range. [PMID:29844061]"} {"concept_id": "C5421620", "aliases": ["Elevated apolipoprotein C-III level", "Elevated APOC3 level"], "types": ["T033"], "canonical_name": "Elevated circulating apolipoprotein C-III concentration", "definition": "An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. [ORCID:0000-0002-9553-7227, PMID:12006394]"} {"concept_id": "C5421621", "aliases": [], "types": ["T033"], "canonical_name": "Quadruple gallop rhythm", "definition": "A type of gallop rhytm in which both the third and the fourth sounds are present. [PMID:15886379]"} {"concept_id": "C5421622", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating tenascin-C level", "definition": "Abnormally increased concentration of tenascin-C in the blood circulation. [PMID:30442110]"} {"concept_id": "C5421623", "aliases": [], "types": ["T049"], "canonical_name": "Duodenal gastric metaplasia", "definition": "Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border. [PMID:16679353]"} {"concept_id": "C5421624", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal right ventricular function", "definition": "Anomalous physiology (function) of the right ventricle. []"} {"concept_id": "C5421625", "aliases": [], "types": ["T033"], "canonical_name": "Elevated right ventricular systolic pressure", "definition": "Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg. [PMID:18619825]"} {"concept_id": "C5421626", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating osteopontin level", "definition": "Abnormally increased level of osteopontin in the blood circulation [PMID:12574077, PMID:15705633]"} {"concept_id": "C5421627", "aliases": [], "types": ["T033"], "canonical_name": "Increased serum sorbitol concentration", "definition": "An increased level of sorbitol in the blood circulation. [PMID:32367058]"} {"concept_id": "C5421628", "aliases": [], "types": ["T033"], "canonical_name": "Delayed ability to crawl", "definition": "A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months. []"} {"concept_id": "C5421629", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal shoulder physiology", "definition": "Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm. []"} {"concept_id": "C5421630", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal renal echogenicity", "definition": "Anomalous echogenicity of the kidney on ultrasound examination. [PMID:24235286]"} {"concept_id": "C5421631", "aliases": ["Increased renal medullary echogenicity"], "types": ["T033"], "canonical_name": "Renal medullary hyperechogenicity", "definition": "Increased echogenecity of the medullary region of the kidney. [PMID:24235286]"} {"concept_id": "C5421632", "aliases": [], "types": ["T033"], "canonical_name": "Renal cortical hyperechogenicity", "definition": "Increased echogenecity of the kidney cortex. [PMID:24235286]"} {"concept_id": "C5421633", "aliases": ["Hypoechogenic renal cortex"], "types": ["T033"], "canonical_name": "Renal cortical hypoechogeneity"} {"concept_id": "C5421634", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal pulmonary alveolar system morphology", "definition": "A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli. [LMU:mgriese]"} {"concept_id": "C5421635", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating uracil concentration", "definition": "Concentration of uracil in the blood circulation is above the normal range. []"} {"concept_id": "C5421637", "aliases": [], "types": ["T047"], "canonical_name": "Severe SARS-CoV-2 infection", "definition": "Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation. [PMID:32706371]"} {"concept_id": "C5421638", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating ceruloplasmin concentration", "definition": "Any deviation of the concentration of ceruloplasmin in the blood from the normal range. [PMID:32119309]"} {"concept_id": "C5421639", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating ceruloplasmin concentration", "definition": "Elevated concentration of ceruloplasmin in the blood circulation. [PMID:32119309]"} {"concept_id": "C5421640", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating methylsuccinic acid concentration", "definition": "Increased concentration of methylsuccinic acid in the blood circulation. [PMID:29909962]"} {"concept_id": "C5421641", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating short-chain fatty-acid concentration", "definition": "Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation. []"} {"concept_id": "C5421642", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal pharynx morphology", "definition": "A structural anomaly of the pharynx. []"} {"concept_id": "C5421643", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal pharynx physiology", "definition": "A functional anomaly of the pharynx. []"} {"concept_id": "C5421644", "aliases": ["Elevated plasma dodecenoylcarnitine concentration"], "types": ["T033"], "canonical_name": "Elevated circulating dodecenoylcarnitine concentration", "definition": "An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation. []"} {"concept_id": "C5421645", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating deoxypyridinoline concentration", "definition": "An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation. [PMID:12661898]"} {"concept_id": "C5421646", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating L-alloisoleucine concentration", "definition": "Abnormally increased concentration of L-alloisoleucine in the blood circulation. [PMID:10508118, PMID:28919799]"} {"concept_id": "C5421647", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urine L-alloisoleucine level", "definition": "Abnormally increased level of L-alloisoleucine in the urine. [PMID:28919799]"} {"concept_id": "C5421648", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating 3-methylhistidine concentration", "definition": "Abnormal increase of the concentration of 3-methylhistidine in the blood circulation. [PMID:6780020]"} {"concept_id": "C5421649", "aliases": ["Dminished respiratory ciliary beat frequency"], "types": ["T033"], "canonical_name": "Reduced respiratory ciliary beating frequency", "definition": "An abnormal reduction in the number of beats per unit time of the respiratory cilia. [PMID:10722772]"} {"concept_id": "C5421650", "aliases": [], "types": ["T033"], "canonical_name": "Reduced urinary inosine level", "definition": "Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. [PMID:402573]"} {"concept_id": "C5421651", "aliases": [], "types": ["T033"], "canonical_name": "Decreased urinary guanosine level", "definition": "Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond. []"} {"concept_id": "C5421652", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urinary purine level", "definition": "Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines. []"} {"concept_id": "C5421653", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urinary pyrimidine level", "definition": "Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines. []"} {"concept_id": "C5421654", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent viral upper respiratory tract infections", "definition": "An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis). [PMID:30422556]"} {"concept_id": "C5421655", "aliases": [], "types": ["T047"], "canonical_name": "Neutrophilic urticarial dermatosis", "definition": "A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present. [PMID:32490121]"} {"concept_id": "C5421656", "aliases": [], "types": ["T033"], "canonical_name": "Reduced mevalonate kinase activity", "definition": "Abnormally reduced activity of mevalonate kinase, ,which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids. [ORCID:0000-0003-3411-9598, PMID:27499643]"} {"concept_id": "C5421657", "aliases": ["Reduced TLC"], "types": ["T033"], "canonical_name": "Reduced total lung capacity", "definition": "Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration. [PMID:28194273]"} {"concept_id": "C5421658", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal skinfold thickness measurement", "definition": "Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. [PMID:7492193]"} {"concept_id": "C5421659", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal triceps skinfold thickness", "definition": "Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. [PMID:27669294]"} {"concept_id": "C5421660", "aliases": [], "types": ["T033"], "canonical_name": "Increased triceps skinfold thickness", "definition": "Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased. [PMID:27669294]"} {"concept_id": "C5421661", "aliases": [], "types": ["T033"], "canonical_name": "Milky appearance of bronchoalveolar lavage fluid", "definition": "Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space. [LMU:mgriese, PMID:26110014, PMID:28771412]"} {"concept_id": "C5421662", "aliases": [], "types": ["T033"], "canonical_name": "Bloody bronchoalveolar lavage fluid", "definition": "Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding. [LMU:mgriese]"} {"concept_id": "C5421663", "aliases": ["Elevated circulating L-pyroglutamic acid concentration"], "types": ["T033"], "canonical_name": "Elevated circulating 5-oxoproline concentration", "definition": "Concentration of L-pyroglutamic acid in the blood is above the normal range. [PMID:8789605]"} {"concept_id": "C5421664", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating suberic acid concentration", "definition": "An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. []"} {"concept_id": "C5421665", "aliases": ["Increased serum interleukin-8", "Increased serum interleukin 8", "Increased serum IL-8"], "types": ["T033"], "canonical_name": "Increased circulating interleukin 8 concentration", "definition": "An increased concentration of interleukin-8 in the circulation. [PMID:15831231]"} {"concept_id": "C5421666", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating aconitic acid concentration", "definition": "An increased concentration of aconitic acid in the blood circulation. []"} {"concept_id": "C5421667", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating cathepsin D level", "definition": "An increase in concentration of cathepsin D in the blood circulation. [PMID:26995190]"} {"concept_id": "C5421668", "aliases": [], "types": ["T080"], "canonical_name": "Triggered by infection"} {"concept_id": "C5421669", "aliases": ["Triggered by Epstein Barr virus infection"], "types": ["T080"], "canonical_name": "Triggered by EBV infection", "definition": "Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus. [PMID:19425169]"} {"concept_id": "C5421670", "aliases": [], "types": ["T190"], "canonical_name": "Misalignment of the pulmonary veins", "definition": "The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins. [PMID:19500772, PMID:25052575, PMID:27071622]"} {"concept_id": "C5421671", "aliases": ["Long dental root", "Root gigantism", "Rhizomegaly"], "types": ["T190"], "canonical_name": "Radiculomegaly", "definition": "Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length. [PMID:29574060, PMID:31468724]"} {"concept_id": "C5421672", "aliases": ["Cutaneous hyperpigmentation with overlying hypertrichosis"], "types": ["T033"], "canonical_name": "Hypertrichotic hyperpigmented patch", "definition": "A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth. [PMID:18410979]"} {"concept_id": "C5421673", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating selenium concentration", "definition": "An increased concentration of selenium in the blood circulation. [PMID:25519493]"} {"concept_id": "C5421674", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating selenium concentration", "definition": "An abnormally reduced concentration of selenium in the blood circulation. [PMID:25519493]"} {"concept_id": "C5421675", "aliases": ["Ballooning degeneration of hepatocytes"], "types": ["T049"], "canonical_name": "Ballooning hepatocyte degeneration", "definition": "Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. [PMID:31603713, PMID:31885839]"} {"concept_id": "C5421676", "aliases": [], "types": ["T046"], "canonical_name": "Hepatic lobular inflammation", "definition": "Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes). [PMID:31583739]"} {"concept_id": "C5421677", "aliases": [], "types": ["T080"], "canonical_name": "Triggered by viral infection", "definition": "Applies to a sign or symptom that is provoked or brought about by infection by a virus. []"} {"concept_id": "C5421678", "aliases": ["Increased serum interleukin 10"], "types": ["T033"], "canonical_name": "Increased circulating interleukin 10 concentration", "definition": "An elevation of the concentration of interleukin 10 in the blood circulation. [PMID:18424693]"} {"concept_id": "C5421679", "aliases": [], "types": ["T033"], "canonical_name": "Brachioradialis hyporeflexia", "definition": "Reduced intensity of the brachioradialis tendon reflex. [PMID:32119424]"} {"concept_id": "C5421680", "aliases": [], "types": ["T033"], "canonical_name": "Brachioradialis hyperreflexia", "definition": "Increased intensity of the brachioradialis reflex. [PMID:32119424]"} {"concept_id": "C5421681", "aliases": [], "types": ["T033"], "canonical_name": "Triceps hyperreflexia", "definition": "Increased intensity of the triceps reflex. [PMID:30285397]"} {"concept_id": "C5421682", "aliases": [], "types": ["T033"], "canonical_name": "Biceps hyperreflexia", "definition": "Increased intensity of the biceps reflex. [PMID:30285397]"} {"concept_id": "C5421683", "aliases": ["Hyperactive ankle jerk reflex", "Hyperactive ankle reflex"], "types": ["T033"], "canonical_name": "Hyperactive Achilles reflex", "definition": "Increased intensity of the Achilles reflex. [PMID:30285397]"} {"concept_id": "C5421684", "aliases": [], "types": ["T033"], "canonical_name": "Increased proportion autoreactive unresponsive CD21-/low B cells", "definition": "Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures. [PMID:26119182]"} {"concept_id": "C5421685", "aliases": ["Elevated urine octanedioic acid level"], "types": ["T033"], "canonical_name": "Elevated urine suberic acid level", "definition": "An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. [PMID:6466694]"} {"concept_id": "C5421686", "aliases": [], "types": ["T033"], "canonical_name": "Recurrent viral pneumonia", "definition": "Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias. [PMID:27427983]"} {"concept_id": "C5421687", "aliases": [], "types": ["T019"], "canonical_name": "Agenesis of putamen", "definition": "A developmental defect characterized by the absence of the putamen owing to its failure to develop. [PMID:31412107]"} {"concept_id": "C5421689", "aliases": [], "types": ["T184"], "canonical_name": "Hot cross bun sign", "definition": "A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI). [PMID:25886304]"} {"concept_id": "C5421690", "aliases": ["Transient decreased IgG4 in blood"], "types": ["T033"], "canonical_name": "Transient decreased circulating IgG4", "definition": "A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation. []"} {"concept_id": "C5421691", "aliases": ["Chronic decreased IgG4 in blood"], "types": ["T033"], "canonical_name": "Chronic decreased circulating IgG4", "definition": "A lasting decrease of immunoglobulin G4 (IgG4) in the blood. []"} {"concept_id": "C5421692", "aliases": ["Chronic (near) absent IgG4 in blood"], "types": ["T033"], "canonical_name": "Chronic (near) absent circulating IgG4", "definition": "A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured. []"} {"concept_id": "C5421693", "aliases": ["Chronic partially decreased IgG4 in blood"], "types": ["T033"], "canonical_name": "Chronic partially decreased circulating IgG4", "definition": "A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood. []"} {"concept_id": "C5421694", "aliases": ["Transient decreased IgG2 in blood"], "types": ["T033"], "canonical_name": "Transient decreased circulating IgG2", "definition": "A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation. []"} {"concept_id": "C5421695", "aliases": ["Chronic decreased IgG2 in blood"], "types": ["T033"], "canonical_name": "Chronic decreased cirulating IgG2", "definition": "A lasting decrease of immunoglobulin G2 (IgG2) in the blood. []"} {"concept_id": "C5421696", "aliases": ["Chronic (near) absent IgG2 in blood"], "types": ["T033"], "canonical_name": "Chronic (near) absent circulating IgG2", "definition": "A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured. []"} {"concept_id": "C5421697", "aliases": ["Chronic partially decreased IgG2 in blood"], "types": ["T033"], "canonical_name": "Chronic partially decreased circulating IgG2", "definition": "A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood. []"} {"concept_id": "C5421698", "aliases": ["Transient decreased IgG1 in blood"], "types": ["T033"], "canonical_name": "Transient decreased circulating IgG1", "definition": "A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation. []"} {"concept_id": "C5421699", "aliases": ["Chronic decreased IgG1 in blood"], "types": ["T033"], "canonical_name": "Chronic decreased circulating IgG1", "definition": "A lasting decrease of immunoglobulin G1 (IgG1) in the blood. []"} {"concept_id": "C5421700", "aliases": ["Chronic (near) absent IgG1 in blood"], "types": ["T033"], "canonical_name": "Chronic (near) absent circulating IgG1", "definition": "A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured. []"} {"concept_id": "C5421701", "aliases": ["Chronic partially decreased IgG1 in blood"], "types": ["T033"], "canonical_name": "Chronic partially decreased circulating IgG1", "definition": "A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood. []"} {"concept_id": "C5421702", "aliases": ["Transient decreased IgG3 in blood"], "types": ["T033"], "canonical_name": "Transient decreased circulating IgG3", "definition": "A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation. []"} {"concept_id": "C5421703", "aliases": ["Chronic decreased IgG3 in blood"], "types": ["T033"], "canonical_name": "Chronic decreased circulating IgG3", "definition": "A lasting decrease of immunoglobulin G3 (IgG3) in the blood. []"} {"concept_id": "C5421704", "aliases": ["Chronic (near) absent IgG3 in blood"], "types": ["T033"], "canonical_name": "Chronic (near) absent circulating IgG3", "definition": "A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured. []"} {"concept_id": "C5421705", "aliases": ["Chronic partially decreased IgG3 in blood"], "types": ["T033"], "canonical_name": "Chronic partially decreased circulating IgG3", "definition": "A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood. []"} {"concept_id": "C5421706", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal immunoglobulin level in body fluid", "definition": "An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous. []"} {"concept_id": "C5421707", "aliases": [], "types": ["T033"], "canonical_name": "Increased immunoglobulin level in body fluid", "definition": "An elevation from normal levels of immunoglobulins in body fluids, such as mucous. []"} {"concept_id": "C5421708", "aliases": [], "types": ["T033"], "canonical_name": "Decreased immunoglobulin level in body fluid", "definition": "An reduction from normal levels of immunoglobulins in body fluids, such as mucous. []"} {"concept_id": "C5421709", "aliases": ["Decreased adipose tissue percentage"], "types": ["T033"], "canonical_name": "Decreased body fat percentage", "definition": "The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males. [http://pennshape.upenn.edu/, ORCID:0000-0002-9553-7227]"} {"concept_id": "C5421710", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal proportion of exhausted T cells", "definition": "A deviation from the normal proportion of exhausted T cell relative to T cell in the blood. [PMID:31570879]"} {"concept_id": "C5421711", "aliases": ["Compression fractured cervical vertebra"], "types": ["T046"], "canonical_name": "Compression-fractured cervical vertebra", "definition": "A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. []"} {"concept_id": "C5421712", "aliases": ["Compression fractured lumbar vertebra"], "types": ["T037"], "canonical_name": "Compression-fractured lumbar vertebra", "definition": "A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. []"} {"concept_id": "C5421713", "aliases": [], "types": ["T037"], "canonical_name": "Avulsion fractured humerus", "definition": "A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma. []"} {"concept_id": "C5421714", "aliases": [], "types": ["T037"], "canonical_name": "Avulsion fractured tibia", "definition": "A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma. []"} {"concept_id": "C5421716", "aliases": [], "types": ["T037"], "canonical_name": "Avulsion fractured epiphysis of femur", "definition": "A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma. []"} {"concept_id": "C5421717", "aliases": ["bone metaphysis of femur"], "types": ["T037"], "canonical_name": "Fractured metaphysis of femur", "definition": "A partial or complete breakage of the metaphysis of femur. []"} {"concept_id": "C5421718", "aliases": ["bone right clavicle"], "types": ["T037"], "canonical_name": "Fractured right clavicle", "definition": "A partial or complete breakage of the right clavicle. []"} {"concept_id": "C5421719", "aliases": ["bone left clavicle"], "types": ["T037"], "canonical_name": "Fractured left clavicle", "definition": "A partial or complete breakage of the left clavicle. []"} {"concept_id": "C5421720", "aliases": ["bone lower limb segment"], "types": ["T037"], "canonical_name": "Fractured lower limb segment", "definition": "A partial or complete breakage of the lower limb segment. []"} {"concept_id": "C5421721", "aliases": ["bone upper limb segment"], "types": ["T037"], "canonical_name": "Fractured upper limb segment", "definition": "A partial or complete breakage of the upper limb segment. []"} {"concept_id": "C5421722", "aliases": ["bone metacarpus skeleton"], "types": ["T037"], "canonical_name": "Fractured metacarpus skeleton", "definition": "A partial or complete breakage of the metacarpus skeleton. []"} {"concept_id": "C5421723", "aliases": ["bone epiphysis of fifth metacarpal bone"], "types": ["T037"], "canonical_name": "Fractured epiphysis of fifth metacarpal bone", "definition": "A partial or complete breakage of the epiphysis of fifth metacarpal bone. []"} {"concept_id": "C5421724", "aliases": ["bone clavicle bone"], "types": ["T037"], "canonical_name": "Fractured clavicle bone", "definition": "A partial or complete breakage of the clavicle bone. []"} {"concept_id": "C5421725", "aliases": ["bone acetabular part of hip bone"], "types": ["T037"], "canonical_name": "Fractured acetabular part of hip bone", "definition": "A partial or complete breakage of the acetabular part of hip bone. []"} {"concept_id": "C5421726", "aliases": ["bone navicular bone of pes"], "types": ["T037"], "canonical_name": "Fractured navicular bone of pes", "definition": "A partial or complete breakage of the navicular bone of pes. []"} {"concept_id": "C5421727", "aliases": ["bone sternoclavicular joint"], "types": ["T037"], "canonical_name": "Fractured sternoclavicular joint", "definition": "A partial or complete breakage of the sternoclavicular joint. []"} {"concept_id": "C5421728", "aliases": ["bone elbow joint"], "types": ["T037"], "canonical_name": "Fractured elbow joint", "definition": "A partial or complete breakage of the elbow joint. []"} {"concept_id": "C5421730", "aliases": ["bone manual digit"], "types": ["T037"], "canonical_name": "Fractured manual digit", "definition": "A partial or complete breakage of the manual digit. []"} {"concept_id": "C5421731", "aliases": ["bone fused sacrum"], "types": ["T037"], "canonical_name": "Fractured fused sacrum", "definition": "A partial or complete breakage of the fused sacrum. []"} {"concept_id": "C5421732", "aliases": ["bone distal phalanx of manus"], "types": ["T037"], "canonical_name": "Fractured distal phalanx of manus", "definition": "A partial or complete breakage of the distal phalanx of manus. []"} {"concept_id": "C5421733", "aliases": ["bone middle phalanx of pes"], "types": ["T037"], "canonical_name": "Fractured middle phalanx of pes", "definition": "A partial or complete breakage of the middle phalanx of pes. []"} {"concept_id": "C5421734", "aliases": ["bone distal phalanx of manual digit 2"], "types": ["T037"], "canonical_name": "Fractured distal phalanx of manual digit 2", "definition": "A partial or complete breakage of the distal phalanx of manual digit 2. []"} {"concept_id": "C5421735", "aliases": ["bone distal phalanx of manual digit 3"], "types": ["T037"], "canonical_name": "Fractured distal phalanx of manual digit 3", "definition": "A partial or complete breakage of the distal phalanx of manual digit 3. []"} {"concept_id": "C5421736", "aliases": ["bone distal phalanx of manual digit 4"], "types": ["T037"], "canonical_name": "Fractured distal phalanx of manual digit 4", "definition": "A partial or complete breakage of the distal phalanx of manual digit 4. []"} {"concept_id": "C5421737", "aliases": ["bone distal phalanx of manual digit 5"], "types": ["T037"], "canonical_name": "Fractured distal phalanx of manual digit 5", "definition": "A partial or complete breakage of the distal phalanx of manual digit 5. []"} {"concept_id": "C5421738", "aliases": ["bone distal phalanx of pedal digit 1"], "types": ["T037"], "canonical_name": "Fractured distal phalanx of pedal digit 1", "definition": "A partial or complete breakage of the distal phalanx of pedal digit 1. []"} {"concept_id": "C5421739", "aliases": ["bone distal phalanx of pedal digit 3"], "types": ["T037"], "canonical_name": "Fractured distal phalanx of pedal digit 3", "definition": "A partial or complete breakage of the distal phalanx of pedal digit 3. []"} {"concept_id": "C5421740", "aliases": ["bone middle phalanx of manual digit 2"], "types": ["T037"], "canonical_name": "Fractured middle phalanx of manual digit 2", "definition": "A partial or complete breakage of the middle phalanx of manual digit 2. []"} {"concept_id": "C5421741", "aliases": ["bone middle phalanx of manual digit 3"], "types": ["T037"], "canonical_name": "Fractured middle phalanx of manual digit 3", "definition": "A partial or complete breakage of the middle phalanx of manual digit 3. []"} {"concept_id": "C5421742", "aliases": ["bone middle phalanx of manual digit 4"], "types": ["T037"], "canonical_name": "Fractured middle phalanx of manual digit 4", "definition": "A partial or complete breakage of the middle phalanx of manual digit 4. []"} {"concept_id": "C5421743", "aliases": ["bone middle phalanx of manual digit 5"], "types": ["T037"], "canonical_name": "Fractured middle phalanx of manual digit 5", "definition": "A partial or complete breakage of the middle phalanx of manual digit 5. []"} {"concept_id": "C5421744", "aliases": ["bone middle phalanx of pedal digit 3"], "types": ["T037"], "canonical_name": "Fractured middle phalanx of pedal digit 3", "definition": "A partial or complete breakage of the middle phalanx of pedal digit 3. []"} {"concept_id": "C5421745", "aliases": ["bone proximal phalanx of pedal digit 1"], "types": ["T037"], "canonical_name": "Fractured proximal phalanx of pedal digit 1", "definition": "A partial or complete breakage of the proximal phalanx of pedal digit 1. []"} {"concept_id": "C5421746", "aliases": ["bone proximal phalanx of manual digit 1"], "types": ["T037"], "canonical_name": "Fractured proximal phalanx of manual digit 1", "definition": "A partial or complete breakage of the proximal phalanx of manual digit 1. []"} {"concept_id": "C5421747", "aliases": ["bone epiphysis of second metacarpal bone"], "types": ["T037"], "canonical_name": "Fractured epiphysis of second metacarpal bone", "definition": "A partial or complete breakage of the epiphysis of second metacarpal bone. []"} {"concept_id": "C5421748", "aliases": ["bone epiphysis of third metacarpal bone"], "types": ["T037"], "canonical_name": "Fractured epiphysis of third metacarpal bone", "definition": "A partial or complete breakage of the epiphysis of third metacarpal bone. []"} {"concept_id": "C5421749", "aliases": ["bone epiphysis of fourth metacarpal bone"], "types": ["T037"], "canonical_name": "Fractured epiphysis of fourth metacarpal bone", "definition": "A partial or complete breakage of the epiphysis of fourth metacarpal bone. []"} {"concept_id": "C5421750", "aliases": ["bone epiphysis of first metatarsal bone"], "types": ["T037"], "canonical_name": "Fractured epiphysis of first metatarsal bone", "definition": "A partial or complete breakage of the epiphysis of first metatarsal bone. []"} {"concept_id": "C5421751", "aliases": ["bone epiphysis of second metatarsal bone"], "types": ["T037"], "canonical_name": "Fractured epiphysis of second metatarsal bone", "definition": "A partial or complete breakage of the epiphysis of second metatarsal bone. []"} {"concept_id": "C5421752", "aliases": ["bone epiphysis of third metatarsal bone"], "types": ["T037"], "canonical_name": "Fractured epiphysis of third metatarsal bone", "definition": "A partial or complete breakage of the epiphysis of third metatarsal bone. []"} {"concept_id": "C5421753", "aliases": ["bone distal epiphysis of radius"], "types": ["T037"], "canonical_name": "Fractured distal epiphysis of radius", "definition": "A partial or complete breakage of the distal epiphysis of radius. []"} {"concept_id": "C5421754", "aliases": ["bone proximal epiphysis of first metacarpal bone"], "types": ["T037"], "canonical_name": "Fractured proximal epiphysis of first metacarpal bone", "definition": "A partial or complete breakage of the proximal epiphysis of first metacarpal bone. []"} {"concept_id": "C5421755", "aliases": ["bone proximal epiphysis of middle phalanx of manual digit 3"], "types": ["T037"], "canonical_name": "Fractured proximal epiphysis of middle phalanx of manual digit 3", "definition": "A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3. []"} {"concept_id": "C5421756", "aliases": ["bone interphalangeal joint"], "types": ["T037"], "canonical_name": "Fractured interphalangeal joint", "definition": "A partial or complete breakage of the interphalangeal joint. []"} {"concept_id": "C5421757", "aliases": ["bone epiphysis of middle phalanx of manus"], "types": ["T037"], "canonical_name": "Fractured epiphysis of middle phalanx of manus", "definition": "A partial or complete breakage of the epiphysis of middle phalanx of manus. []"} {"concept_id": "C5421758", "aliases": ["bone lateral malleolus of fibula"], "types": ["T037"], "canonical_name": "Fractured lateral malleolus of fibula", "definition": "A partial or complete breakage of the lateral malleolus of fibula. []"} {"concept_id": "C5421759", "aliases": ["bone proximal phalanx of digit 3"], "types": ["T037"], "canonical_name": "Fractured proximal phalanx of digit 3", "definition": "A partial or complete breakage of the proximal phalanx of digit 3. []"} {"concept_id": "C5421760", "aliases": ["bone proximal phalanx of digit 4"], "types": ["T037"], "canonical_name": "Fractured proximal phalanx of digit 4", "definition": "A partial or complete breakage of the proximal phalanx of digit 4. []"} {"concept_id": "C5421761", "aliases": ["bone proximal phalanx of digit 5"], "types": ["T037"], "canonical_name": "Fractured proximal phalanx of digit 5", "definition": "A partial or complete breakage of the proximal phalanx of digit 5. []"} {"concept_id": "C5421762", "aliases": ["bone fused metatarsal bones 2-4"], "types": ["T037"], "canonical_name": "Fractured fused metatarsal bones 2-4", "definition": "A partial or complete breakage of the fused metatarsal bones 2-4. []"} {"concept_id": "C5421763", "aliases": ["bone distal epiphysis of distal phalanx of manual digit 1"], "types": ["T037"], "canonical_name": "Fractured distal epiphysis of distal phalanx of manual digit 1", "definition": "A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1. []"} {"concept_id": "C5421764", "aliases": ["bone metatarsal bone of digit 5"], "types": ["T037"], "canonical_name": "Fractured metatarsal bone of digit 5", "definition": "A partial or complete breakage of the metatarsal bone of digit 5. []"} {"concept_id": "C5421765", "aliases": ["bone manual digit bone"], "types": ["T037"], "canonical_name": "Fractured manual digit bone", "definition": "A partial or complete breakage of the manual digit bone. []"} {"concept_id": "C5421766", "aliases": ["bone metacarpal bone of digit 1"], "types": ["T037"], "canonical_name": "Fractured metacarpal bone of digit 1", "definition": "A partial or complete breakage of the metacarpal bone of digit 1. []"} {"concept_id": "C5421767", "aliases": ["bone distal tarsal bone 2"], "types": ["T037"], "canonical_name": "Fractured distal tarsal bone 2", "definition": "A partial or complete breakage of the distal tarsal bone 2. []"} {"concept_id": "C5421768", "aliases": ["bone distal tarsal bone 3"], "types": ["T037"], "canonical_name": "Fractured distal tarsal bone 3", "definition": "A partial or complete breakage of the distal tarsal bone 3. []"} {"concept_id": "C5421769", "aliases": ["bone metatarsal bone of digit 4"], "types": ["T037"], "canonical_name": "Fractured metatarsal bone of digit 4", "definition": "A partial or complete breakage of the metatarsal bone of digit 4. []"} {"concept_id": "C5421770", "aliases": ["bone metatarsal bone of digit 1"], "types": ["T037"], "canonical_name": "Fractured metatarsal bone of digit 1", "definition": "A partial or complete breakage of the metatarsal bone of digit 1. []"} {"concept_id": "C5421773", "aliases": ["bone hindlimb bone"], "types": ["T037"], "canonical_name": "Fractured hindlimb bone", "definition": "A partial or complete breakage of the hindlimb bone. []"} {"concept_id": "C5421774", "aliases": ["bone middle phalanx of manus"], "types": ["T037"], "canonical_name": "Fractured middle phalanx of manus", "definition": "A partial or complete breakage of the middle phalanx of manus. []"} {"concept_id": "C5421775", "aliases": ["bone manual digit 1 phalanx"], "types": ["T037"], "canonical_name": "Fractured manual digit 1 phalanx", "definition": "A partial or complete breakage of the manual digit 1 phalanx. []"} {"concept_id": "C5421776", "aliases": ["bone phalanx of pes"], "types": ["T037"], "canonical_name": "Fractured phalanx of pes", "definition": "A partial or complete breakage of the phalanx of pes. []"} {"concept_id": "C5421777", "aliases": ["bone phalanx of manus"], "types": ["T037"], "canonical_name": "Fractured phalanx of manus", "definition": "A partial or complete breakage of the phalanx of manus. []"} {"concept_id": "C5421778", "aliases": ["bone proximal phalanx of manus"], "types": ["T037"], "canonical_name": "Fractured proximal phalanx of manus", "definition": "A partial or complete breakage of the proximal phalanx of manus. []"} {"concept_id": "C5421779", "aliases": ["bone shoulder bone"], "types": ["T037"], "canonical_name": "Fractured shoulder bone", "definition": "A partial or complete breakage of the shoulder bone. []"} {"concept_id": "C5421780", "aliases": ["bone proximal phalanx of digit 2"], "types": ["T037"], "canonical_name": "Fractured proximal phalanx of digit 2", "definition": "A partial or complete breakage of the proximal phalanx of digit 2. []"} {"concept_id": "C5421781", "aliases": ["bone distal tarsal bone"], "types": ["T037"], "canonical_name": "Fractured distal tarsal bone", "definition": "A partial or complete breakage of the distal tarsal bone. []"} {"concept_id": "C5421782", "aliases": [], "types": ["T033"], "canonical_name": "Decreased serum complement C7", "definition": "A reduced level of the complement component C7 in the blood circulation. [PMID:17407100]"} {"concept_id": "C5435767", "aliases": ["Megamitochondria"], "types": ["T033"], "definition": "Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM. [PMID:32715519]", "canonical_name": "Mitochondrial hypertrophy"} {"concept_id": "C5436598", "aliases": ["Failure of zygotic cell division"], "types": ["T049"], "canonical_name": "Zygotic cleavage failure", "definition": "Failure of a fertilized oocyte to undergo the first round of cell division. [PMID:32502391]"} {"concept_id": "C5436680", "aliases": ["Non-progressive sperm motility"], "types": ["T033"], "canonical_name": "Reduced progressive sperm motility", "definition": "A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion. [PMID:8957699]"} {"concept_id": "C5437761", "aliases": [], "types": ["T019"], "definition": "Congenital pulmonary airway malformation type 2 originates in the bronchiolar regions and is the second most frequent type, comprising 15-25% of cases. It may be associated with other types of renal or cardiac anomalies. Usually, it presents as multiple small cysts less than 2cm in diameter. The prognosis is good with no malignant potential.", "canonical_name": "Type 2 congenital pulmonary airway malformation"} {"concept_id": "C5437762", "aliases": [], "types": ["T019"], "definition": "Congenital pulmonary airway malformation type 3 originates in the bronchiolar regions and may involve an entire lobe, compressing other lobes. It comprises 10% of all cases and the lesions may be solid not cystic and are less than 5mm in diameter. The prognosis is good with no malignant potential; however, there is typically an absence of pulmonary arteries within the lesion.", "canonical_name": "Type 3 congenital pulmonary airway malformation"} {"concept_id": "C5437763", "aliases": [], "types": ["T019"], "definition": "Congenital pulmonary airway malformation type 1 is the commonest type, comprising about 70% of all cases. The cysts in this type are usually located within a single lobe and lined with columnar epithelium. There are often 1 or 2 large cysts up to 10cm in size which may be surrounded by smaller cysts.", "canonical_name": "Type 1 congenital pulmonary airway malformation"} {"concept_id": "C5438458", "aliases": ["Sagittal clefting of vertebrae", "Anterior rachischisis"], "types": ["T019"], "definition": "A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. [HPO:probinson, PMID:31448202, PMID:3693103]", "canonical_name": "Butterfly vertebrae"} {"concept_id": "C5441545", "aliases": [], "types": ["T191"], "definition": "A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.", "canonical_name": "Cylindroma"} {"concept_id": "C5441558", "aliases": ["Multiple intervertebral disc calcifications"], "types": ["T047"], "canonical_name": "Multiple intervertebral disk calcifications"} {"concept_id": "C5441562", "aliases": ["Small corpus callosum", "Thinning of the corpus callosum"], "types": ["T190"], "canonical_name": "Thin corpus callosum", "definition": "An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). [ORCID:0000-0002-1735-8178]"} {"concept_id": "C5441573", "aliases": [], "types": ["T019"], "definition": "A benign focal growth composed of vascular tissue.", "canonical_name": "Vascular hamartoma"} {"concept_id": "C5441660", "aliases": [], "types": ["T184"], "definition": "a persistent and generalized livedo reticularis", "canonical_name": "Livedo racemosa"} {"concept_id": "C5441721", "aliases": [], "types": ["T047"], "definition": "A type of lipoid pneumonia in which the source of the lipids is external to the body. [LMU:mgriese, PMID:20028911]", "canonical_name": "Exogenous lipoid pneumonia"} {"concept_id": "C5441745", "aliases": ["Abnormal pulmonary interstitial morphology", "Interstitial pulmonary disease"], "types": ["T190"], "definition": "Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. [HPO:probinson]", "canonical_name": "Interstitial lung disease"} {"concept_id": "C5441816", "aliases": ["Motormental retardation", "Psychomotor retardation", "Psychomotor impairment"], "types": ["T033"], "definition": "Abnormally slow physical movement.", "canonical_name": "Psychomotor slowing"} {"concept_id": "C5441966", "aliases": [], "types": ["T046"], "definition": "The abnormal collection of fluid in the peritoneal cavity resulting in ascites.", "canonical_name": "Peritoneal effusion"} {"concept_id": "C5442004", "aliases": [], "types": ["T019"], "canonical_name": "Bilateral cystic dysplasia"} {"concept_id": "C5442007", "aliases": ["Favourable response to levodopa"], "types": ["T033"], "canonical_name": "Favorable response to levodopa"} {"concept_id": "C5442008", "aliases": [], "types": ["T047"], "definition": "Complete or almost complete absence of enamel. [PMID:31468724]", "canonical_name": "Enamel agenesis"} {"concept_id": "C5442080", "aliases": ["Foetal akinesia"], "types": ["T033"], "canonical_name": "Fetal akinesia"} {"concept_id": "C5442141", "aliases": ["Epididymal cyst"], "types": ["T190"], "definition": "A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris.", "canonical_name": "Epididymal cysts"} {"concept_id": "C5445060", "aliases": [], "types": ["T031"], "definition": "A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis [PMID:18195376]", "canonical_name": "Broncholith"} {"concept_id": "C5539399", "aliases": ["Growth hormone deficiency", "Somatotropin deficiency"], "types": ["T033"], "definition": "Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. [HPO:probinson, PMID:25914878]", "canonical_name": "Decreased response to growth hormone stimulation test"} {"concept_id": "C5539400", "aliases": [], "types": ["T033"], "canonical_name": "Peripheral hypotonia"} {"concept_id": "C5539401", "aliases": [], "types": ["T033"], "canonical_name": "Dependence on diaphragmatic breathing"} {"concept_id": "C5539402", "aliases": [], "types": ["T047"], "canonical_name": "Metabolic crises during febrile infections"} {"concept_id": "C5539403", "aliases": [], "types": ["T033"], "canonical_name": "Filling of the alveoli with desquamated epithelial cells"} {"concept_id": "C5539404", "aliases": [], "types": ["T033"], "canonical_name": "Intra-alveolar accumulation of macrophages"} {"concept_id": "C5539405", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal choroid plexus morphology", "definition": "An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells. [HPO:probinson]"} {"concept_id": "C5539406", "aliases": [], "types": ["T047"], "canonical_name": "Honeycomb palmoplantar hyperkeratosis", "definition": "Abnormal thickening of the skin on the palms and soles with an honeycomb pattern. [PMID:9326323]"} {"concept_id": "C5539407", "aliases": [], "types": ["T190"], "canonical_name": "Syphilitic permanent first molar"} {"concept_id": "C5539408", "aliases": ["Affective aura", "Affective auras", "Emotional aura"], "types": ["T184"], "canonical_name": "Affective epileptic aura", "definition": "Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. [HPO:probinson]"} {"concept_id": "C5539409", "aliases": [], "types": ["T034"], "canonical_name": "Anti-dsDNA antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA. [PMID:15804704]"} {"concept_id": "C5539410", "aliases": [], "types": ["T190"], "canonical_name": "Abnormalities of the glomerular capillary wall"} {"concept_id": "C5539411", "aliases": ["Ground-glass opacification", "Ground glass opacities"], "types": ["T033"], "definition": "A CT scan finding in the lungs indicating the presence of hazy areas of attenuation in the air spaces. It is caused by interstitial fibrosis, alveolar collapse, edema, inflammation, or cancer with lepidic spread.", "canonical_name": "GGO"} {"concept_id": "C5539413", "aliases": ["Fixation-off sensitivity"], "types": ["T033"], "canonical_name": "Fixation-off epileptiform discharges", "definition": "Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG). [ORCID:0000-0002-1735-8178, PMID:22925838, PMID:24099056]"} {"concept_id": "C5539414", "aliases": [], "types": ["T047"], "canonical_name": "Steroid-sensitive nephrotic syndrome with infrequent relapses", "definition": "A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. [ORCID:0000-0002-2234-4248, PMID:29910038]"} {"concept_id": "C5539415", "aliases": [], "types": ["T047"], "canonical_name": "Steroid-sensitive nephrotic syndrome with frequent relapses", "definition": "A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. [ORCID:0000-0002-2234-4248, PMID:29910038]"} {"concept_id": "C5539416", "aliases": ["Lamellation of the glomerular basement membrane", "Lamellated/basket-woven thickened glomerular basement membranes"], "types": ["T033"], "canonical_name": "Glomerular basement membrane lamellation", "definition": "Presence of abnormal additional layers of the basement membrane of the glomerulus. [KPMP:arosenberg, PMID:10199473, PMID:12089752]"} {"concept_id": "C5539417", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal spirometry test"} {"concept_id": "C5539418", "aliases": ["Septal thickening (pulmonary CT finding)", "Short lines (pumonary CT finding)", "Interlobular lines (pulmonary CT finding)", "Septal lines (pulmonary CT finding)", "Peripheral lines (pulmonary CT finding)"], "types": ["T033"], "canonical_name": "Interlobular septal thickening", "definition": "Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. [NIHR:ldaugherty, PMID:23247773]"} {"concept_id": "C5539419", "aliases": [], "types": ["T191"], "canonical_name": "Squamous papilloma of the uvula"} {"concept_id": "C5539420", "aliases": [], "types": ["T034"], "canonical_name": "Anti-pyruvate dehydrogenase antibody positivity"} {"concept_id": "C5539421", "aliases": [], "types": ["T034"], "canonical_name": "Anti-La/SS-B antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens. [ORCID:0000-0002-4095-8489, PMID:15804706, PMID:27431345]"} {"concept_id": "C5539422", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating acetone concentration", "definition": "An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies. [PMID:28278308]"} {"concept_id": "C5539423", "aliases": ["Neonatal electroclinical sequential seizure"], "types": ["T047"], "canonical_name": "Neonatal electro-clinical sequential seizure", "definition": "Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. [PMID:28276064]"} {"concept_id": "C5539424", "aliases": [], "types": ["T034"], "canonical_name": "Anti-Scl-34 antibody positivity"} {"concept_id": "C5539425", "aliases": [], "types": ["T034"], "canonical_name": "Anti-U3 ribonucleoprotein antibody positivity"} {"concept_id": "C5539426", "aliases": [], "types": ["T190"], "canonical_name": "Obliterative abnormality of the renal glomerulus"} {"concept_id": "C5539427", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular hyalinosis", "definition": "Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. [KPMP:arosenberg]"} {"concept_id": "C5539428", "aliases": [], "types": ["T033"], "canonical_name": "Perihilar glomerular hyalinosis", "definition": "Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. [KPMP:arosenberg]"} {"concept_id": "C5539429", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular hyalinosis at the tubular pole", "definition": "Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. [KPMP:arosenberg]"} {"concept_id": "C5539430", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular hyalinosis away from the vascular and tubular poles", "definition": "Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. [KPMP:arosenberg]"} {"concept_id": "C5539431", "aliases": ["Elevated urinary 2-methylbutyrylglycine", "Elevated urinary 2-ethylhydracylic acid"], "types": ["T033"], "canonical_name": "2-ethylhydracylic aciduria", "definition": "An increased concentration of 2-ethylhydracylic acid in the urine. [PMID:15615815]"} {"concept_id": "C5539432", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal glomerular parietal epithelial cell morphology", "definition": "Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. [KPMP:arosenberg, PMID:28361304]"} {"concept_id": "C5539433", "aliases": ["Hyperplasia of the glomerular parietal epithelial cell"], "types": ["T033"], "canonical_name": "Glomerular parietal epithelial cell hyperplasia", "definition": "Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. [KPMP:arosenberg]"} {"concept_id": "C5539434", "aliases": ["Hypertrophy of the glomerular parietal epithelial cell"], "types": ["T033"], "canonical_name": "Glomerular parietal epithelial cell hypertrophy", "definition": "An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present [KPMP:arosenberg]"} {"concept_id": "C5539435", "aliases": ["Capsular hyaline drops within Bowman's capsule"], "types": ["T033"], "canonical_name": "Bowman capsular hyaline drops", "definition": "An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539436", "aliases": [], "types": ["T190"], "canonical_name": "Glomerular synechial adhesion", "definition": "An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539437", "aliases": ["Areflexia of triceps"], "types": ["T033"], "canonical_name": "Triceps areflexia", "definition": "Inability to elicit triceps tendon reflex. []"} {"concept_id": "C5539438", "aliases": ["Areflexia of brachioradialis"], "types": ["T033"], "canonical_name": "Brachioradialis areflexia", "definition": "Inability to elicit brachioradialis tendon reflex. []"} {"concept_id": "C5539439", "aliases": ["Areflexia of biceps"], "types": ["T033"], "canonical_name": "Biceps areflexia", "definition": "Inability to elicit biceps tendon reflex. []"} {"concept_id": "C5539440", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal glomerular mesangial cellularity", "definition": "Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5539441", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal glomerular mesangial matrix morphology", "definition": "Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. [KPMP:arosenberg, PMID:19470685]"} {"concept_id": "C5539442", "aliases": [], "types": ["T033"], "canonical_name": "Paramesangial deposits", "definition": "Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539443", "aliases": [], "types": ["T033"], "canonical_name": "Mesangial hyaline deposition", "definition": "Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. []"} {"concept_id": "C5539444", "aliases": ["Central fatigue"], "types": ["T184"], "canonical_name": "Cognitive fatigue", "definition": "A failure to sustain attention that requires self-motivation to optimize performance. [PMID:21128132]"} {"concept_id": "C5539445", "aliases": ["Detachment of visceral epithelial cells", "Podocyte detachment"], "types": ["T033"], "canonical_name": "Visceral epithelial cell detachment", "definition": "Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539446", "aliases": [], "types": ["T033"], "canonical_name": "Podocyte microvillous transformation", "definition": "Cytoplasmic projections into the urinary space from the luminal side of the podocyte. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539447", "aliases": ["Podocyte cap"], "types": ["T033"], "canonical_name": "Visceral epithelial cell capping", "definition": "Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. []"} {"concept_id": "C5539448", "aliases": [], "types": ["T033"], "canonical_name": "Elevated RV/TLC ratio", "definition": "An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation. [LMU:kknofloch, PMID:12934788]"} {"concept_id": "C5539449", "aliases": [], "types": ["T033"], "canonical_name": "Hyperinflation on pulmonary function test"} {"concept_id": "C5539450", "aliases": [], "types": ["T033"], "canonical_name": "Overinflation on pulmonary function test"} {"concept_id": "C5539451", "aliases": [], "types": ["T190"], "canonical_name": "Polyalveolar lobe", "definition": "An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold. [PMID:7463297]"} {"concept_id": "C5539452", "aliases": [], "types": ["T019"], "canonical_name": "Horseshoe lung", "definition": "A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac. [LMU:kknoflach, PMID:29970781, PMID:3484566]"} {"concept_id": "C5539453", "aliases": [], "types": ["T033"], "canonical_name": "Glycogen accumulation in pulmonary interstitial cells", "definition": "Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells. [PMID:29957271]"} {"concept_id": "C5539454", "aliases": ["Abnormal alveolar epithelial type II cell morphology", "Abnormal type II pneumocyte morphology", "Abnormal pulmonary type II cell morphology"], "types": ["T033"], "canonical_name": "Abnormal alveolar type II pneumocyte morphology", "definition": "Any structural abnormality of alveolar type 2 (ATII) cells. [LMU:kknofloch, PMID:10445627, PMID:27792742]"} {"concept_id": "C5539455", "aliases": ["Hypertrophic alveolar type II pneumocytes", "Hypertrophic alveolar type II cells"], "types": ["T033"], "canonical_name": "Type II pneumocyte hypertrophy", "definition": "Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin. [LMU:crapp, PMID:17554398, PMID:2166657]"} {"concept_id": "C5539456", "aliases": [], "types": ["T033"], "canonical_name": "Multiple pulmonary interstitial hyalinized nodules", "definition": "Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin. [LMU:crapp, PMID:31538016]"} {"concept_id": "C5539457", "aliases": ["Focal substantia nigra T2 hyperintense lesion"], "types": ["T033"], "canonical_name": "Focal substantia nigra T2 hyperintensity", "definition": "Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging. []"} {"concept_id": "C5539458", "aliases": ["Elevated RV"], "types": ["T033"], "canonical_name": "Elevated residual volume", "definition": "Increase in the amount of air remaining in a person's lungs after full exhalation. [PMID:12934788]"} {"concept_id": "C5539459", "aliases": [], "types": ["T033"], "canonical_name": "Reduced circulating interferon gamma", "definition": "A reduction in the concentration of interferon gamma measured in the blood circulation. []"} {"concept_id": "C5539460", "aliases": ["Delayed ability to cruise"], "types": ["T033"], "canonical_name": "Delayed ability to walk with support", "definition": "A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage. []"} {"concept_id": "C5539461", "aliases": [], "types": ["T184"], "canonical_name": "Non-motor seizure", "definition": "A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown. [PMID:2827606, PMID:28276060]"} {"concept_id": "C5539462", "aliases": ["Transphyseal distal humerus fracture"], "types": ["T037"], "canonical_name": "Transphyseal fracture of the distal humerus", "definition": "A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis. [PMID:26808044]"} {"concept_id": "C5539463", "aliases": [], "types": ["T033"], "canonical_name": "Enlarged platelet dense granules", "definition": "Increased size of platelet dense granules. [PMID:16551969]"} {"concept_id": "C5539464", "aliases": ["Podocyte myelin inclusions"], "types": ["T033"], "canonical_name": "Podocyte myelin figures", "definition": "Lamellated intracytoplasmic lipid inclusions within podocytes. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539465", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular pseudocrescent", "definition": "Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539466", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal glomerular capillary lumen morphology", "definition": "Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. [PMID:24875196]"} {"concept_id": "C5539467", "aliases": [], "types": ["T033"], "canonical_name": "Deflation of the glomerular tuft", "definition": "Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. [KPMP:arosenberg, PMID:27102348]"} {"concept_id": "C5539468", "aliases": ["Collapse of glomerular capillary walls"], "types": ["T033"], "canonical_name": "Glomerular capillary collapse", "definition": "Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539469", "aliases": ["Glomerular congestion"], "types": ["T033"], "canonical_name": "Glomerular capillary congestion", "definition": "Global distention of glomerular capillaries with intraluminal intact red blood cells. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539470", "aliases": [], "types": ["T190"], "canonical_name": "Glomerular capillary microaneurysm", "definition": "Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539471", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal glomerular endothelial cell morphology", "definition": "An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. [KPMP:arosenberg, PMID:29629372]"} {"concept_id": "C5539472", "aliases": [], "types": ["T033"], "canonical_name": "Loss of glomerular endothelial cell fenestration", "definition": "Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. [KPMP:arosenberg, PMID:19129259]"} {"concept_id": "C5539473", "aliases": [], "types": ["T046"], "canonical_name": "Glomerular endotheliosis", "definition": "Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. [KPMP:arosenberg, PMID:14511965]"} {"concept_id": "C5539474", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular endothelial tubuloreticular inclusion", "definition": "Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. [KPMP:arosenberg, PMID:23957425]"} {"concept_id": "C5539475", "aliases": [], "types": ["T046"], "canonical_name": "Glomerular fibrinoid necrosis", "definition": "Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. [KPMP:arosenberg, PMID:29459092]"} {"concept_id": "C5539476", "aliases": [], "types": ["T033"], "canonical_name": "Reduced CD95-induced lymphocyte apoptosis", "definition": "Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells. [PMID:21625644]"} {"concept_id": "C5539477", "aliases": [], "types": ["T033"], "canonical_name": "Circulating nucleated red blood cells", "definition": "The presence of nucleated red blood cells in the peripheral blood circulation. [PMID:28633658]"} {"concept_id": "C5539478", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal glomerular basement membrane morphology", "definition": "Any abnormal sttructure of the glomerular basement membrane. [PMID:29435440]"} {"concept_id": "C5539479", "aliases": [], "types": ["T033"], "canonical_name": "Segmentally thickened glomerular basement membrane", "definition": "Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. [KPMP:arosenberg]"} {"concept_id": "C5539480", "aliases": [], "types": ["T033"], "canonical_name": "Diffusely thickened glomerular basement membrane", "definition": "Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. [KPMP:arosenberg]"} {"concept_id": "C5539481", "aliases": [], "types": ["T033"], "canonical_name": "Thickened glomerular basement membranes with no electron dense deposits", "definition": "Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. []"} {"concept_id": "C5539482", "aliases": [], "types": ["T033"], "canonical_name": "Thickened glomerular basement membranes with electron dense deposits"} {"concept_id": "C5539483", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular basement membrane lucencies", "definition": "Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539484", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular basement membrane spikes"} {"concept_id": "C5539485", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular subendothelial widening", "definition": "Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. [KPMP:arosenberg, PMID:21827618, PMID:32866505]"} {"concept_id": "C5539486", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular karyhorrhectic debris", "definition": "Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539487", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular fibrin thrombus", "definition": "An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. [KPMP:arosenberg]"} {"concept_id": "C5539488", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular hyaline pseudothrombus", "definition": "Intracapillary amorphous, eosinophilic material consisting of immune deposits. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539489", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular lipoprotein thrombus", "definition": "Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. [KPMP:arosenberg]"} {"concept_id": "C5539490", "aliases": [], "types": ["T033"], "canonical_name": "Mesangial Immune complex deposition", "definition": "Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. [KPMP:arosenberg]"} {"concept_id": "C5539491", "aliases": ["Binucleated podocytes"], "types": ["T033"], "canonical_name": "Binucleated visceral epithelial cells", "definition": "Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. [KPMP:arosenberg]"} {"concept_id": "C5539492", "aliases": ["Podocyte multinucleation", "Multinucleated podocytes"], "types": ["T033"], "canonical_name": "Multinucleated visceral epithelial cells", "definition": "Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. [KPMP:arosenberg]"} {"concept_id": "C5539493", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating complement factor H related protein 1 concentration", "definition": "A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1) [PMID:27814381]"} {"concept_id": "C5539494", "aliases": [], "types": ["T033"], "canonical_name": "Reduced circulating complement factor H related protein 1 concentration", "definition": "Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation. []"} {"concept_id": "C5539495", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating complement factor H related protein 1 concentration", "definition": "Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation. []"} {"concept_id": "C5539496", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating 1-methylhistidine concentration", "definition": "An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine. []"} {"concept_id": "C5539497", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating 4-hydroxyphenylacetic acid concentration", "definition": "An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation. []"} {"concept_id": "C5539498", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary monocarboxylic acid level", "definition": "Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group. []"} {"concept_id": "C5539499", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urine 4-hydroxyphenylacetic acid level", "definition": "Increased amount of 4-hydroxyphenylacetic acid in the urine. []"} {"concept_id": "C5539500", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating fetuin A concentration", "definition": "Any deviation from the normal concentration of fetuin A in the blood circulation. [PMID:25468829]"} {"concept_id": "C5539501", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating fetuin A concentration", "definition": "A reduction below normal of fetuin A in the blood circulation. []"} {"concept_id": "C5539502", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating fetuin A concentration", "definition": "An elevation above normal of fetuin A in the blood circulation. []"} {"concept_id": "C5539503", "aliases": [], "types": ["T190"], "canonical_name": "Patellar overgrowth", "definition": "Excessive growth of the kneecap (patella). []"} {"concept_id": "C5539504", "aliases": [], "types": ["T047"], "canonical_name": "Ileoileal intussusception", "definition": "A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum. [PMID:17872641]"} {"concept_id": "C5539506", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal Bowman space morphology", "definition": "Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. [PMID:32119361]"} {"concept_id": "C5539507", "aliases": ["Collagenization of the urinary space"], "types": ["T033"], "canonical_name": "Urinary space collagenization", "definition": "Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539508", "aliases": ["Hyperplasia of visceral epithelial cells", "Podocyte hyperplasia"], "types": ["T033"], "canonical_name": "Visceral epithelial cell hyperplasia", "definition": "Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539509", "aliases": [], "types": ["T033"], "canonical_name": "Visceral epithelial hyaline droplets", "definition": "Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. [KPMP:arosenberg]"} {"concept_id": "C5539510", "aliases": [], "types": ["T033"], "canonical_name": "Cellular crescent", "definition": "A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. [PMID:32866505]"} {"concept_id": "C5539511", "aliases": [], "types": ["T033"], "canonical_name": "Fibrocellular crescent", "definition": "A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539512", "aliases": [], "types": ["T033"], "canonical_name": "Fibrous crescent", "definition": "A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539513", "aliases": [], "types": ["T033"], "canonical_name": "Mesangial cell loss", "definition": "Loss of mesangial cells segmentally or globally. []"} {"concept_id": "C5539514", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular obsolescence", "definition": "Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. [KPMP:arosenberg]"} {"concept_id": "C5539515", "aliases": [], "types": ["T190"], "canonical_name": "Glomerular capillary wall duplication without cellular interposition", "definition": "Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. [KPMP:arosenberg]"} {"concept_id": "C5539516", "aliases": [], "types": ["T190"], "canonical_name": "Glomerular capillary wall duplication with cellular interposition", "definition": "Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. [KPMP:arosenberg]"} {"concept_id": "C5539517", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating homovanillic acid concentration", "definition": "Increased concentration of homovanillic acid in the blood circulation. []"} {"concept_id": "C5539518", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating sebacic acid concentration", "definition": "Increased concentration of sebacic acid in the blood circulation. []"} {"concept_id": "C5539519", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating hydroxyphenlyllactic acid concentration", "definition": "An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation. []"} {"concept_id": "C5539520", "aliases": [], "types": ["T033"], "canonical_name": "Impaired neck-righting reflex", "definition": "Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years. [PMID:13502822]"} {"concept_id": "C5539521", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating amyloid A", "definition": "An increased concentration of serum amyloid A in the blood circulation. [PMID:30165816]"} {"concept_id": "C5539522", "aliases": [], "types": ["T019"], "canonical_name": "Abnormal embryonic development", "definition": "An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm. [PMID:32680920]"} {"concept_id": "C5539523", "aliases": [], "types": ["T019"], "canonical_name": "Abnormal preimplantation embryonic development", "definition": "An anomaly in the development of the embryo in a stage prior to implantation. []"} {"concept_id": "C5539524", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal gametogenesis", "definition": "An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II. []"} {"concept_id": "C5539525", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal female meiosis", "definition": "Anomalous oocyte meiosis []"} {"concept_id": "C5539526", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating inosine concentration", "definition": "An increased concentration of inosine in the blood circulation. []"} {"concept_id": "C5539527", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating guanosine concentration", "definition": "Increased concentration of guanosine in the blood circulation. []"} {"concept_id": "C5539528", "aliases": ["Elevated circulating beta-sitosterol concentration"], "types": ["T033"], "canonical_name": "Elevated circulating sitosterol concentration", "definition": "An increased concentration of beta-sitosterol in the blood circulation. []"} {"concept_id": "C5539529", "aliases": ["Anti-AQP4 antibody positivity"], "types": ["T034"], "canonical_name": "Anti-aquaporin 4 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4. [ORCID:0000-0002-3387-1836, PMID:24260168, PMID:24415568, PMID:25889963, PMID:31312230]"} {"concept_id": "C5539530", "aliases": [], "types": ["T033"], "canonical_name": "Pleural cobblestoning", "definition": "A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura. [LMU:mgriese, PMID:27618319]"} {"concept_id": "C5539531", "aliases": ["Psychic aura"], "types": ["T184"], "canonical_name": "Psychic epileptic aura", "definition": "Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events. []"} {"concept_id": "C5539532", "aliases": [], "types": ["T184"], "canonical_name": "Cognitive epileptic aura", "definition": "A purely subjective manifestation of an epileptic seizure pertaining to altered cognition. []"} {"concept_id": "C5539533", "aliases": ["Elevated FEV1"], "types": ["T033"], "canonical_name": "Elevated forced expiratory volume in one second", "definition": "An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject. [ORCID:0000-0001-5361-6739, PMID:19671143]"} {"concept_id": "C5539534", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal blood vessel morphology", "definition": "Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). []"} {"concept_id": "C5539535", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urine metabolite level", "definition": "Any deviation from the normal amount of a metabolite in urine. []"} {"concept_id": "C5539536", "aliases": ["Elevated urinary DPD"], "types": ["T033"], "canonical_name": "Increased urine deoxypyridinoline level", "definition": "An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover. [PMID:12661898, PMID:9127470]"} {"concept_id": "C5539537", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating o-phosphoserine concentration", "definition": "An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine. []"} {"concept_id": "C5539538", "aliases": [], "types": ["T033"], "canonical_name": "Limited head rotation", "definition": "Reduced range of motion turning the head side to side. []"} {"concept_id": "C5539539", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urine osmolality", "definition": "A deviation from the normal range of concentration of particles in urine. []"} {"concept_id": "C5539540", "aliases": [], "types": ["T033"], "canonical_name": "Hyperosthenuria", "definition": "An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine. []"} {"concept_id": "C5539541", "aliases": ["Impaired task shifting"], "types": ["T048"], "canonical_name": "Impaired ability to shift attention", "definition": "A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible. [PMID:23356593]"} {"concept_id": "C5539542", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal KCO", "definition": "Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O. [ORCID:0000-0002-4095-8489, PMID:11334115]"} {"concept_id": "C5539543", "aliases": [], "types": ["T033"], "canonical_name": "Increased KCO", "definition": "Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). [ORCID:0000-0002-4095-8489, PMID:11334115]"} {"concept_id": "C5539544", "aliases": [], "types": ["T033"], "canonical_name": "Decreased KCO", "definition": "Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). [ORCID:0000-0002-4095-8489, PMID:11334115]"} {"concept_id": "C5539545", "aliases": [], "types": ["T033"], "canonical_name": "Alveolar septal thickening", "definition": "Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology. [LMU:crapp]"} {"concept_id": "C5539546", "aliases": [], "types": ["T033"], "canonical_name": "Increased airway neuroendocrine cells", "definition": "Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs). [LMU:mgriese, PMID:20884725, PMID:26474448, PMID:30521210, PMID:32558323, PMID:33306420]"} {"concept_id": "C5539547", "aliases": [], "types": ["T033"], "canonical_name": "Increased airway neuroepithelial bodies", "definition": "Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts. [LMU:mgriese, PMID:10623675]"} {"concept_id": "C5539548", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating stearoylcarnitine concentration", "definition": "Abnormally increased concentration of O-stearoylcarnitine in the blood circulation. []"} {"concept_id": "C5539549", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating palmitoylcarnitine concentration", "definition": "Abnormally increased concentration of palmitoylcarnitine in the blood circulation. []"} {"concept_id": "C5539550", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary collagen degradation products", "definition": "Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease. []"} {"concept_id": "C5539551", "aliases": ["Elevated urine hydroxylysyl-pyridinoline level"], "types": ["T033"], "canonical_name": "Elevated urine pyridinoline level", "definition": "An increased amount of pyridinoline in the urine. [PMID:26306627]"} {"concept_id": "C5539552", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating collagen degradation product concentration", "definition": "Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease. []"} {"concept_id": "C5539553", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating pyridinoline concentration", "definition": "An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation. [PMID:26306627]"} {"concept_id": "C5539554", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal bronchial artery morphology", "definition": "Any structural abnormality of a bronchial artery. [ORCID:0000-0002-4095-8489, PMID:25590386]"} {"concept_id": "C5539555", "aliases": [], "types": ["T190"], "canonical_name": "Bronchopulmonary anastomosis", "definition": "Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries. [ORCID:0000-0002-4095-8489, PMID:10598843]"} {"concept_id": "C5539556", "aliases": ["Bronchial artery enlargement", "Dilatation of a bronchial artery"], "types": ["T190"], "canonical_name": "Bronchial artery dilatation", "definition": "Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm. [ORCID:0000-0002-4095-8489, PMID:25590386, PMID:32430593]"} {"concept_id": "C5539557", "aliases": [], "types": ["T046"], "canonical_name": "Bronchial artery hypertrophy", "definition": "Increase in the volume of bronchial artery wall due to the enlargement of its component cells. [ORCID:0000-0002-4095-8489, PMID:25590386]"} {"concept_id": "C5539558", "aliases": ["Perivascular inflammation of arterioles in the pulmonary circulation", "Perivascular inflammation of pre-capillary pulmonary arteries"], "types": ["T046"], "canonical_name": "Perivascular pre-capillary pulmonary artery inflammation", "definition": "Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer). []"} {"concept_id": "C5539559", "aliases": [], "types": ["T034"], "canonical_name": "Anti-carbonic anhydrase II antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II. [ORCID:0000-0002-3387-1836, PMID:16932997]"} {"concept_id": "C5539560", "aliases": [], "types": ["T034"], "canonical_name": "Antilactoferrin antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin. [ORCID:0000-0002-3387-1836, PMID:16932997]"} {"concept_id": "C5539561", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular extracapillary fibrin", "definition": "Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. [KPMP:arosenberg]"} {"concept_id": "C5539562", "aliases": [], "types": ["T033"], "canonical_name": "Bowman-space proteinaceous debris", "definition": "The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. [KPMP:arosenberg]"} {"concept_id": "C5539563", "aliases": [], "types": ["T046"], "canonical_name": "Tissue ischemia", "definition": "Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion. [PMID:10720362, PMID:26858079]"} {"concept_id": "C5539564", "aliases": [], "types": ["T046"], "canonical_name": "Digital ischemia", "definition": "Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. []"} {"concept_id": "C5539565", "aliases": [], "types": ["T046"], "canonical_name": "Testicular ischemia", "definition": "Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain and swelling of the affected testis. [PMID:33102026]"} {"concept_id": "C5539566", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating organic amino compound concentration", "definition": "Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. []"} {"concept_id": "C5539567", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating o-phosphoethanolamine concentration", "definition": "An increased concentration of o-phosphoethanolamine in the blood circulation. []"} {"concept_id": "C5539568", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urine acetoacetic acid level", "definition": "Elevated amount of acetoacetic acid in the urine. [PMID:11344564]"} {"concept_id": "C5539569", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating acetoacetic acid concentration", "definition": "An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies. []"} {"concept_id": "C5539570", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary 2-hydroxybutyric acid", "definition": "An increased amount of 2-hydroxybutyric acid in the urine. []"} {"concept_id": "C5539571", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating cartilage oligomeric matrix protein concentration", "definition": "An increased blood concentration of cartilage oligomeric matrix protein (COMP). [PMID:25317315]"} {"concept_id": "C5539572", "aliases": [], "types": ["T033"], "canonical_name": "Lower extremity akinesia", "definition": "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities. []"} {"concept_id": "C5539573", "aliases": ["Akinesia of the upper extremities"], "types": ["T033"], "canonical_name": "Upper extremity akinesia", "definition": "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities. []"} {"concept_id": "C5539574", "aliases": ["Hypokinesia of the upper extremities"], "types": ["T033"], "canonical_name": "Upper extremity hypokinesia", "definition": "Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. []"} {"concept_id": "C5539575", "aliases": ["Hypokinesia of the lower extremities"], "types": ["T033"], "canonical_name": "Lower extremity hypokinesia", "definition": "Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. []"} {"concept_id": "C5539576", "aliases": [], "types": ["T033"], "canonical_name": "Hip adductor weakness", "definition": "Reduced ability to bring the leg toward the midline of the body. [PMID:28914719]"} {"concept_id": "C5539577", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating hydroxybutyric acid concentration", "definition": "An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent. []"} {"concept_id": "C5539578", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating 2-hydroxybutyric acid concentration", "definition": "Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range. [PMID:27208342]"} {"concept_id": "C5539579", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating 3-hydroxybutyric acid concentration", "definition": "Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range. []"} {"concept_id": "C5539580", "aliases": [], "types": ["T033"], "canonical_name": "Pulmonary arterial plexiform lesion", "definition": "Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels. [ORCID:0000-0002-4095-8489, PMID:8504682]"} {"concept_id": "C5539581", "aliases": [], "types": ["T190"], "canonical_name": "Pulmonary artery intimal thickening", "definition": "Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%. [ORCID:0000-0002-4095-8489, PMID:23606929, PMID:28025704]"} {"concept_id": "C5539582", "aliases": [], "types": ["T046"], "canonical_name": "Pulmonary artery adventitial fibrosis", "definition": "Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree. [ORCID:0000-0002-4095-8489, PMID:17008597, PMID:23737168]"} {"concept_id": "C5539583", "aliases": [], "types": ["T047"], "canonical_name": "Pulmonary arterial hypertension with positive acute response to NO challenge", "definition": "A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm. [PMID:15939821]"} {"concept_id": "C5539584", "aliases": [], "types": ["T047"], "canonical_name": "Pulmonary arterial hypertension with lack of acute response to NO challenge", "definition": "A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm). [PMID:15939821]"} {"concept_id": "C5539585", "aliases": [], "types": ["T047"], "canonical_name": "Pulmonary capillary angioectasia", "definition": "Focal accumulation of dilated pulmonary capillaries. [ORCID:0000-0002-4095-8489]"} {"concept_id": "C5539586", "aliases": [], "types": ["T047"], "canonical_name": "Non-infectious meningitis", "definition": "Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines. []"} {"concept_id": "C5539587", "aliases": [], "types": ["T047"], "canonical_name": "Opportunistic viral infection"} {"concept_id": "C5539588", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating keto acid concentration", "definition": "A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group. []"} {"concept_id": "C5539589", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating 3-methyl-2-oxovaleric acid concentration", "definition": "An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation. []"} {"concept_id": "C5539590", "aliases": ["Increased circulating alpha-ketoisocaproic acid concentration"], "types": ["T033"], "canonical_name": "Elevated circulating 4-methyl-2-oxopentanoic acid concentration", "definition": "Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation. []"} {"concept_id": "C5539591", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating myoglobin concentration", "definition": "An increased blood concentration of myoglobin. [PMID:29262167]"} {"concept_id": "C5539592", "aliases": ["Elevated plasma decenoylcarnitine, C10:1", "Elevated circulating O-decenoylcarnitine concentration"], "types": ["T033"], "canonical_name": "Elevated circulating decenoylcarnitine concentration", "definition": "Increased concentration of decenoylcarnitine in the blood circulation. []"} {"concept_id": "C5539593", "aliases": ["Elevated circulating O-octenoylcarnitine concentration", "Elevated plasma octenoylcarnitine, C8:1"], "types": ["T033"], "canonical_name": "Elevated circulating octenoylcarnitine concentration", "definition": "Increased concentration of octenoylcarnitine in the blood circulation. []"} {"concept_id": "C5539594", "aliases": ["Elevated circulating O-hexanoylcarnitine concentration", "Elevated plasma hexanoylcarnitine, C6:0"], "types": ["T033"], "canonical_name": "Elevated circulating hexanoylcarnitine concentration", "definition": "Increased concentration of hexanoylcarnitine in the blood circulation. []"} {"concept_id": "C5539595", "aliases": ["Elevated circulating O-glutarylcarnitine concentration", "Elevated plasma glutarylcarnitine, C5-DC"], "types": ["T033"], "canonical_name": "Elevated circulating glutarylcarnitine concentration", "definition": "Increased concentration of glutarylcarnitine in the blood circulation. [PMID:15617193]"} {"concept_id": "C5539596", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating propionylcarnitine concentration", "definition": "Increased concentration of propionylcarnitine in the blood circulation. []"} {"concept_id": "C5539597", "aliases": ["Elevated plasma dodecanoylcarnitine, C12:0", "Elevated circulating O-dodecanoylcarnitine concentration"], "types": ["T033"], "canonical_name": "Elevated circulating dodecanoylcarnitine concentration", "definition": "Increased concentration of dodecanoylcarnitine in the blood circulation. []"} {"concept_id": "C5539598", "aliases": [], "types": ["T033"], "canonical_name": "Reduced circulating acylcarnitine concentration", "definition": "An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. []"} {"concept_id": "C5539599", "aliases": ["Elevated circulating O-butyrylcarnitine concentration"], "types": ["T033"], "canonical_name": "Elevated circulating butyrylcarnitine concentration", "definition": "Increased concentration of O-butyrylcarnitine in the blood circulation. []"} {"concept_id": "C5539600", "aliases": ["Elevated circulating O-isovalerylcarnitine concentration"], "types": ["T033"], "canonical_name": "Elevated circulating isovalerylcarnitine concentration", "definition": "Increased concentration of O-isovalerylcarnitine in the blood circulation. []"} {"concept_id": "C5539601", "aliases": [], "types": ["T033"], "canonical_name": "Increased mid-arm muscle circumference", "definition": "Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. [PMID:27806975, PMID:27831914]"} {"concept_id": "C5539602", "aliases": [], "types": ["T033"], "canonical_name": "Decreased mid-arm muscle circumference", "definition": "Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. [PMID:27806975, PMID:27831914]"} {"concept_id": "C5539603", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating prealbumin concentration", "definition": "Any deviation from normal concentration of albumin in the blood circulation. [PMID:11989633]"} {"concept_id": "C5539604", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating prealbumin concentration", "definition": "An elevation above the normal concentration of prealbumin in the blood circulation. []"} {"concept_id": "C5539605", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating prealbumin concentration", "definition": "A reduction from the normal concentration of prealbumin in the blood circulation. [PMID:11989633]"} {"concept_id": "C5539606", "aliases": [], "types": ["T033"], "canonical_name": "Limited neck extension", "definition": "Reduced abilty to move the head back towards the ceiling so that one is looking upwards. []"} {"concept_id": "C5539607", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary dicarboxylic acid level", "definition": "Increased amount of a dicarboxylic acid in the urine. []"} {"concept_id": "C5539608", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urine keto acid level", "definition": "Increased amount of a keta acid in the urine. []"} {"concept_id": "C5539609", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urine 3-methyl-2-oxovaleric acid level", "definition": "Increased amount of 3-methyl-2-oxovaleric acid in the urine. []"} {"concept_id": "C5539610", "aliases": ["Increased urine alpha-ketoisocaproic acid level"], "types": ["T033"], "canonical_name": "Elevated urine 4-methyl-2-oxopentanoic acid level", "definition": "Increased amount of 4-methyl-2-oxopentanoic acid in the urine. []"} {"concept_id": "C5539611", "aliases": ["Decreased apolipoprotein level"], "types": ["T033"], "canonical_name": "Decreased circulating apolipoprotein concentration", "definition": "Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein). []"} {"concept_id": "C5539612", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating apolipoprotein circulation", "definition": "Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein). []"} {"concept_id": "C5539613", "aliases": ["Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH"], "types": ["T033"], "canonical_name": "Elevated circulating 3-hydroxylinoleylcarnitine concentration", "definition": "Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation. []"} {"concept_id": "C5539614", "aliases": ["Elevated plasma oleylcarnitine, C18:1"], "types": ["T033"], "canonical_name": "Elevated circulating oleylcarnitine concentration", "definition": "Increased concentration of oleylcarnitine in the blood circulation. []"} {"concept_id": "C5539615", "aliases": ["Elevated circulating 3-OH-palmitoleylcarnitine concentration", "Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH"], "types": ["T033"], "canonical_name": "Elevated circulating 3-hydroxypalmitoleylcarnitine concentration", "definition": "Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation. []"} {"concept_id": "C5539616", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating tetradecanolycarnitine concentration", "definition": "Elevated circulating tetradecanoyl concentration. []"} {"concept_id": "C5539617", "aliases": [], "types": ["T033"], "canonical_name": "Low 10-minute APGAR score", "definition": "A normal APGAR score can be coded as 'not Low 10-minute APGAR score'. []"} {"concept_id": "C5539618", "aliases": [], "types": ["T033"], "canonical_name": "10-minute APGAR score of 0"} {"concept_id": "C5539619", "aliases": [], "types": ["T033"], "canonical_name": "10-minute APGAR score of 1"} {"concept_id": "C5539620", "aliases": [], "types": ["T033"], "canonical_name": "10-minute APGAR score of 2"} {"concept_id": "C5539621", "aliases": [], "types": ["T033"], "canonical_name": "10-minute APGAR score of 3"} {"concept_id": "C5539622", "aliases": [], "types": ["T033"], "canonical_name": "10-minute APGAR score of 4"} {"concept_id": "C5539623", "aliases": [], "types": ["T033"], "canonical_name": "10-minute APGAR score of 5"} {"concept_id": "C5539624", "aliases": [], "types": ["T033"], "canonical_name": "10-minute APGAR score of 6"} {"concept_id": "C5539625", "aliases": [], "types": ["T033"], "canonical_name": "Limited shoulder abduction", "definition": "Decreased ability to move the arm away from the midline of the body. [PMID:32296967]"} {"concept_id": "C5539626", "aliases": [], "types": ["T034"], "canonical_name": "Extractable nuclear antigen positivity", "definition": "The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution. [PMID:11899137, PMID:16338206]"} {"concept_id": "C5539627", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating lipoprotein lipase concentration", "definition": "A deviation from the normal concentration of lipoprotein lipase in the blood circulation. [PMID:30725725]"} {"concept_id": "C5539628", "aliases": ["Elevated lipoprotein lipase level"], "types": ["T033"], "canonical_name": "Increased circulating lipoprotein lipase concentration", "definition": "Increased concentration of lipoprotein lipase in the blood circulation. [PMID:30725725]"} {"concept_id": "C5539629", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating bilirubin concentration"} {"concept_id": "C5539630", "aliases": [], "types": ["T033"], "canonical_name": "Hypobilirubinemia", "definition": "Decreased circulation of bilirubin in the blood circulation. []"} {"concept_id": "C5539631", "aliases": [], "types": ["T033"], "canonical_name": "Limited lateral neck flexion", "definition": "Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder. []"} {"concept_id": "C5539632", "aliases": [], "types": ["T033"], "canonical_name": "Limited shoulder flexion", "definition": "A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head. []"} {"concept_id": "C5539633", "aliases": [], "types": ["T033"], "canonical_name": "Podocyte infolding", "definition": "Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. [KPMP:arosenberg, PMID:32393263, PMID:33276871]"} {"concept_id": "C5539634", "aliases": ["Elevated plasma linoleylcarnitine, C18:2"], "types": ["T033"], "canonical_name": "Elevated circulating linoleylcarnitine concentration", "definition": "Increased concentration of linoleylcarnitine in the blood circulation. []"} {"concept_id": "C5539635", "aliases": ["Disruption of the glomerular basement membrane", "Glomerular basement membrane rupture"], "types": ["T190"], "canonical_name": "Glomerular basement membrane disruption", "definition": "A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539636", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal glomerular basement membrane texture", "definition": "Anomalous appearance or structure of the surface of the glomerular basement membrane. [KPMP:arosenberg]"} {"concept_id": "C5539637", "aliases": ["Glomerular basement membranes with powdery deposit"], "types": ["T033"], "canonical_name": "Glomerular basement membranes powdery deposit", "definition": "Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539638", "aliases": ["Glomerular endocapillary hypercellularity consisting of leukocytes"], "types": ["T033"], "canonical_name": "Glomerular endocapillary leukocyte hypercellularity", "definition": "Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. [KPMP:arosenberg]"} {"concept_id": "C5539639", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular endocapillary neutrophil hypercellularity", "definition": "Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. [KPMP:arosenberg]"} {"concept_id": "C5539640", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular endocapillary foam-cell hypercellularity", "definition": "Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. [KPMP:arosenberg]"} {"concept_id": "C5539641", "aliases": [], "types": ["T046"], "canonical_name": "Global mesangial sclerosis", "definition": "A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). [KPMP:arosenberg]"} {"concept_id": "C5539642", "aliases": [], "types": ["T033"], "canonical_name": "Podocyte cytoskeletal condensation", "definition": "Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. [KPMP:arosenberg, PMID:27102348]"} {"concept_id": "C5539643", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular basement membrane amyloid spicule", "definition": "Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. [PMID:25852856, PMID:32866505]"} {"concept_id": "C5539644", "aliases": ["Segmental glomerulosclerosis, perihilar pattern"], "types": ["T047"], "canonical_name": "Perihilar segmental glomerulosclerosis", "definition": "Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. [PMID:27437509]"} {"concept_id": "C5539645", "aliases": ["Segmental glomerulosclerosis, tip variant"], "types": ["T047"], "canonical_name": "Tip variant segmental glomerulosclerosis", "definition": "Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. [KPMP:arosenberg, PMID:27437509]"} {"concept_id": "C5539646", "aliases": [], "types": ["T033"], "canonical_name": "Segmental glomerulosclerosis away from the vascular and tubular poles", "definition": "Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. [KPMP:arosenberg]"} {"concept_id": "C5539647", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular basement membrane electron dense deposits", "definition": "Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. [PMID:33329990]"} {"concept_id": "C5539648", "aliases": [], "types": ["T033"], "canonical_name": "Subendothelial glomerular basement membrane electron dense deposits", "definition": "Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. []"} {"concept_id": "C5539649", "aliases": [], "types": ["T033"], "canonical_name": "Subepithelial glomerular basement membrane electron dense deposits", "definition": "Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. []"} {"concept_id": "C5539650", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal esterified to free carnitine ratio", "definition": "Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. []"} {"concept_id": "C5539651", "aliases": [], "types": ["T033"], "canonical_name": "Elevated CSF fumarate", "definition": "An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid. [PMID:31290619]"} {"concept_id": "C5539652", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating fumarate concentration", "definition": "An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation. [PMID:31290619]"} {"concept_id": "C5539653", "aliases": [], "types": ["T033"], "canonical_name": "Increased esterified to free carnitine ratio", "definition": "An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. []"} {"concept_id": "C5539654", "aliases": [], "types": ["T033"], "canonical_name": "Decreased esterified to free carnitine ratio", "definition": "A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. []"} {"concept_id": "C5539655", "aliases": ["Epstein-Barr virus meningitis"], "types": ["T047"], "canonical_name": "EBV meningitis", "definition": "Inflammation of the meninges related to infection by Epstein-Barr virus. [PMID:22018204]"} {"concept_id": "C5539656", "aliases": ["Epstein-Barr virus encephalitis"], "types": ["T047"], "definition": "Inflamation of the brain related to infection by Epstein-Barr virus. [PMID:22018204]", "canonical_name": "EBV encephalitis"} {"concept_id": "C5539657", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal sperm principal piece morphology", "definition": "A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece. [PMID:29024992]"} {"concept_id": "C5539658", "aliases": ["Absent central pair complex (9+0 pattern)"], "types": ["T033"], "canonical_name": "Absent sperm axoneme central pair complex", "definition": "Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern. [PMID:31278745]"} {"concept_id": "C5539659", "aliases": [], "types": ["T033"], "canonical_name": "Limited ankle dorsiflexion", "definition": "Reduced ability to move the foot up toward the shin. [PMID:27465627]"} {"concept_id": "C5539660", "aliases": ["Decreased plasma testosterone-to-androstenedione ratio"], "types": ["T033"], "canonical_name": "Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio", "definition": "A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin). [PMID:10599740, PMID:11155091]"} {"concept_id": "C5539661", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal cardiac output", "definition": "A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs. [PMID:18771592, PMID:29262215]"} {"concept_id": "C5539662", "aliases": ["Increased B-type natriuretic peptide", "Elevated circulating BNP concentration", "Increased ventricular natriuretic peptide"], "types": ["T033"], "canonical_name": "Increased circulating brain natriuretic peptide concentration", "definition": "An increased concentration of brain natriuretic peptide in the blood circulation. [ORCID:0000-0002-4095-8489, PMID:16698841]"} {"concept_id": "C5539663", "aliases": [], "types": ["T033"], "canonical_name": "Reduced platelet dense granules", "definition": "Decreased number of platelet dense granules, a type of platelet organelle. [PMID:31217188]"} {"concept_id": "C5539664", "aliases": [], "types": ["T033"], "canonical_name": "Reduced platelet alpha granules", "definition": "A reduced number of platelet alpha granules. [PMID:31217188]"} {"concept_id": "C5539665", "aliases": [], "types": ["T033"], "canonical_name": "Mosaic pulmonary attenuation pattern", "definition": "Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging. [ORCID:0000-0002-4095-8489, PMID:26274445]"} {"concept_id": "C5539666", "aliases": ["Aortic annular calcification"], "types": ["T046"], "canonical_name": "Aortic annulus calcification", "definition": "Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract. [ORCID:0000-0002-4095-8489, PMID:16461818, PMID:22699285, PMID:31157994]"} {"concept_id": "C5539667", "aliases": [], "types": ["T047"], "canonical_name": "Bilateral apical pulmonary fibrosis", "definition": "A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray. [ORCID:0000-0002-4095-8489, PMID:16376803]"} {"concept_id": "C5539668", "aliases": ["Reversible pulmonary obstruction"], "types": ["T033"], "canonical_name": "Reversible airflow obstruction", "definition": "Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL. [ORCID:0000-0002-4095-8489, PMID:16264058]"} {"concept_id": "C5539669", "aliases": ["Irreversible pulmonary obstruction"], "types": ["T033"], "canonical_name": "Irreversible airflow obstruction", "definition": "Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL. [ORCID:0000-0002-4095-8489, PMID:16264058]"} {"concept_id": "C5539670", "aliases": [], "types": ["T033"], "canonical_name": "Mesangial fibril deposition", "definition": "Extracellular mesangial accumulation of slender proteinaceous fibers. []"} {"concept_id": "C5539671", "aliases": [], "types": ["T033"], "canonical_name": "Mesangial fibrillary deposits", "definition": "Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539672", "aliases": [], "types": ["T033"], "canonical_name": "Mesangial microfibril deposition", "definition": "Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539673", "aliases": [], "types": ["T033"], "canonical_name": "Mesangial immunotactoid deposits", "definition": "Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. [KPMP:arosenberg, PMID:2500773]"} {"concept_id": "C5539674", "aliases": [], "types": ["T033"], "canonical_name": "Mesangial amyloid deposition", "definition": "Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539675", "aliases": [], "types": ["T046"], "canonical_name": "Nodular mesangiosclerosis", "definition": "Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. [KPMP:arosenberg]"} {"concept_id": "C5539676", "aliases": ["Caseating pulmonary granulomatosis"], "types": ["T047"], "canonical_name": "Necrotizing pulmonary granulomatosis", "definition": "A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese. [LMU:kknoflach, PMID:26040776]"} {"concept_id": "C5539677", "aliases": ["Non-caseating pulmonary granulomatosis"], "types": ["T047"], "canonical_name": "Non-necrotizing pulmonary granulomatosis", "definition": "A granuloma located in the lung that is not associated with necrotic changes. [LMU:mgriese]"} {"concept_id": "C5539678", "aliases": [], "types": ["T047"], "canonical_name": "Chronic villitis (non-infectious)"} {"concept_id": "C5539679", "aliases": [], "types": ["T034"], "canonical_name": "Anti-Mi2 antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen. [ORCID:0000-0002-4095-8489, PMID:30938432]"} {"concept_id": "C5539680", "aliases": ["Anti-Ro/SSA antibody positivity"], "types": ["T034"], "canonical_name": "Anti-Ro/SS-A antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens. [ORCID:0000-0002-4095-8489, PMID:1522616, PMID:15804706]"} {"concept_id": "C5539681", "aliases": ["Anti-p62 antibody positivity"], "types": ["T034"], "canonical_name": "Anti-nucleoporin 62 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62. []"} {"concept_id": "C5539682", "aliases": ["Anti-PR3 antibody positivity"], "types": ["T034"], "canonical_name": "Anti-proteinase 3 antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils [ORCID:0000-0002-4095-8489, PMID:9463400]"} {"concept_id": "C5539683", "aliases": [], "types": ["T034"], "canonical_name": "Anti-histone antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against histone antigens. [ORCID:0000-0002-4095-8489, PMID:15096389]"} {"concept_id": "C5539684", "aliases": ["Anti-MPO antibody positivity"], "types": ["T034"], "canonical_name": "Anti-myeloperoxidase antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against myeloperoxidase. [ORCID:0000-0002-4095-8489, PMID:30767872]"} {"concept_id": "C5539685", "aliases": ["Anti-PM/Scl antibody positivity"], "types": ["T034"], "canonical_name": "Anti-PM-Scl antibody positivity", "definition": "Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40. [ORCID:0000-0002-4095-8489, PMID:17643929]"} {"concept_id": "C5539686", "aliases": ["Anti-BPI antibody positivity"], "types": ["T034"], "canonical_name": "Anti-bactericidal/permeability-increasing protein antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies. [ORCID:0000-0002-4095-8489, PMID:31508255]"} {"concept_id": "C5539687", "aliases": ["Anti-gp210 antibody positivity"], "types": ["T034"], "canonical_name": "Anti-glycoprotein-210 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210. [ORCID:0000-0002-4095-8489, PMID:23814122]"} {"concept_id": "C5539688", "aliases": ["Anti-tTG antibody positivity"], "types": ["T034"], "canonical_name": "Anti-tissue transglutaminase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase. [ORCID:0000-0002-4095-8489, PMID:33259121]"} {"concept_id": "C5539689", "aliases": ["Anti-epidermal transglutaminase (anti-eTG) antibody", "Anti-keratinocyte transglutaminase", "Anti-eTG antibody positivity", "Anti-TG3 antibody"], "types": ["T034"], "canonical_name": "Anti-epidermal transglutaminase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase. [PMID:18503599]"} {"concept_id": "C5539690", "aliases": [], "types": ["T033"], "canonical_name": "Extreme axis deviation", "definition": "A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right. [PMID:29262101]"} {"concept_id": "C5539691", "aliases": [], "types": ["T033"], "canonical_name": "Indeterminate ventricular axis", "definition": "A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection. [PMID:29262101]"} {"concept_id": "C5539692", "aliases": [], "types": ["T033"], "canonical_name": "Peripheral lung neovascularity", "definition": "The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy. [ORCID:0000-0002-4095-8489, PMID:16267251]"} {"concept_id": "C5539693", "aliases": [], "types": ["T034"], "canonical_name": "Anti-H1 antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against histone H1. [ORCID:0000-0002-4095-8489]"} {"concept_id": "C5539694", "aliases": [], "types": ["T034"], "canonical_name": "Anti-H4 antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against histone H4. [ORCID:0000-0002-4095-8489]"} {"concept_id": "C5539695", "aliases": [], "types": ["T034"], "canonical_name": "Anti-H3 antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against histone H3. [ORCID:0000-0002-4095-8489]"} {"concept_id": "C5539696", "aliases": [], "types": ["T034"], "canonical_name": "Anti-H2B antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against histone H2B. [ORCID:0000-0002-4095-8489]"} {"concept_id": "C5539697", "aliases": [], "types": ["T046"], "canonical_name": "In situ pulmonary artery thrombosis", "definition": "Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease. [ORCID:0000-0002-4095-8489, PMID:15194174, PMID:15194175, PMID:16899857, PMID:6148159]"} {"concept_id": "C5539698", "aliases": ["Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge"], "types": ["T033"], "canonical_name": "Decreased growth hormone responses to growth hormone-releasing hormone challenge", "definition": "Insufficient growth hormone secretion following administration of growth hormone-releasing hormone. [PMID:21651393]"} {"concept_id": "C5539699", "aliases": [], "types": ["T033"], "canonical_name": "Compound motor action potential abnormality", "definition": "An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). [PMID:15961865, PMID:26744834]"} {"concept_id": "C5539700", "aliases": [], "types": ["T033"], "canonical_name": "Absent peripheral lymph nodes in presence of infection", "definition": "The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases. []"} {"concept_id": "C5539701", "aliases": [], "types": ["T033"], "canonical_name": "Pulmonary interstitial lymphocyte infiltration", "definition": "Abnormal accumulation of lymphocytes in the interstitium of the lung. []"} {"concept_id": "C5539702", "aliases": [], "types": ["T047"], "canonical_name": "Fibrotic non-specific interstitial pneumonia", "definition": "A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation. [LMU:mgriese, PMID:30085516rdfs:comment]"} {"concept_id": "C5539703", "aliases": [], "types": ["T047"], "canonical_name": "Cellular non-specific interstitial pneumonia", "definition": "A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia. [LMU:mgriese]"} {"concept_id": "C5539704", "aliases": [], "types": ["T034"], "canonical_name": "Anti-H3-H4 antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer. [ORCID:0000-0002-4095-8489, PMID:1864977, PMID:3874029, PMID:7986226]"} {"concept_id": "C5539705", "aliases": [], "types": ["T034"], "canonical_name": "Anti-H2A-H2B antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer. [ORCID:0000-0002-4095-8489, PMID:7986226]"} {"concept_id": "C5539706", "aliases": ["Primapterinuria"], "types": ["T033"], "canonical_name": "Elevated urinary 7-biopterin level", "definition": "An abnormally increased amount of 7-biopterin in the urine. [PMID:9585615]"} {"concept_id": "C5539707", "aliases": ["Elevated circulating ceramidetrihexoside concentration"], "types": ["T033"], "canonical_name": "Elevated circulating globotriaosylceramide concentration", "definition": "Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease. [PMID:17073606]"} {"concept_id": "C5539708", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary 3-methylcrotonylglycine level", "definition": "An abnormally increased amount of 3-methylcrotonylglycine in the urine. []"} {"concept_id": "C5539709", "aliases": [], "types": ["T033"], "canonical_name": "Decreased mucosal sucrase-isomaltase activity", "definition": "Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi. [PMID:16329100]"} {"concept_id": "C5539710", "aliases": [], "types": ["T033"], "canonical_name": "Fibrillar glomerular subepithelial deposits", "definition": "Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). [KPMP:arosenberg]"} {"concept_id": "C5539711", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular amyloid subepithelial deposits", "definition": "A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). [KPMP:arosenberg, PMID:25852856]"} {"concept_id": "C5539712", "aliases": [], "types": ["T033"], "canonical_name": "Fibrillary glomerular subepithelial deposits", "definition": "A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539713", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular subepithelial immune-complex deposits", "definition": "A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). [KPMP:arosenberg, PMID:32866505]"} {"concept_id": "C5539714", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular hyaline subepithelial deposits", "definition": "A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). [KPMP:arosenberg]"} {"concept_id": "C5539715", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular subepithelial deposits", "definition": "Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). [PMID:30085237]"} {"concept_id": "C5539716", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular capillary wire loop deposits", "definition": "Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. [PMID:32866505]"} {"concept_id": "C5539717", "aliases": [], "types": ["T047"], "canonical_name": "Pustulosis"} {"concept_id": "C5539718", "aliases": [], "types": ["T049"], "canonical_name": "Bone marrow arrest at the promyelocytic stage", "definition": "A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow. [PMID:26456767]"} {"concept_id": "C5539719", "aliases": [], "types": ["T033"], "canonical_name": "Part-solid pulmonary nodule", "definition": "Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized. [ORCID:0000-0002-4095-8489, PMID:24100062]"} {"concept_id": "C5539720", "aliases": [], "types": ["T033"], "canonical_name": "Perifissural pulmonary nodule", "definition": "Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. [ORCID:0000-0002-4095-8489, PMID:20177105]"} {"concept_id": "C5539721", "aliases": [], "types": ["T019"], "canonical_name": "Displaced tracheal bronchus", "definition": "Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus. [ORCID:0000-0002-4095-8489, PMID:11158647, PMID:19332762]"} {"concept_id": "C5539722", "aliases": [], "types": ["T019"], "canonical_name": "Accessory cardiac bronchus", "definition": "Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended. [ORCID:0000-0002-4095-8489, PMID:11158647]"} {"concept_id": "C5539723", "aliases": [], "types": ["T019"], "canonical_name": "Supernumerary tracheal bronchus", "definition": "Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus. [ORCID:0000-0002-4095-8489, PMID:11158647, PMID:19332762]"} {"concept_id": "C5539724", "aliases": [], "types": ["T033"], "canonical_name": "Typical perifissural nodule", "definition": "A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical). [ORCID:0000-0002-4095-8489]"} {"concept_id": "C5539725", "aliases": [], "types": ["T033"], "canonical_name": "Atypical perifissural nodule", "definition": "A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical). [ORCID:0000-0002-4095-8489]"} {"concept_id": "C5539726", "aliases": [], "types": ["T047"], "canonical_name": "Migratory erythematous plaque", "definition": "A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin. [PMID:31736939]"} {"concept_id": "C5539727", "aliases": ["History of congenital cytomegalovirus infection"], "types": ["T033"], "canonical_name": "History of congenital CMV infection", "definition": "A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits. [PMID:29503048]"} {"concept_id": "C5539728", "aliases": ["Elevated non-HDL cholesterol concentration"], "types": ["T033"], "canonical_name": "Increased non-HDL cholesterol concentration", "definition": "Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol). [PMID:1596847, RGD:gthayman]"} {"concept_id": "C5539729", "aliases": [], "types": ["T033"], "canonical_name": "Increased urine harderoporphyrin level", "definition": "Increased amount of harderoporphyrin in the urine. [PMID:31085196]"} {"concept_id": "C5539730", "aliases": [], "types": ["T034"], "canonical_name": "IgG4 autoimmune antibody positivity", "definition": "The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues. [PMID:29483905]"} {"concept_id": "C5539731", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal alveolar volume", "definition": "Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas. [ORCID:0000-0002-4095-8489, PMID:25706496, PMID:28049168]"} {"concept_id": "C5539732", "aliases": [], "types": ["T033"], "canonical_name": "Decreased alveolar volume", "definition": "An abnormal reduction in alveolar volume. []"} {"concept_id": "C5539733", "aliases": [], "types": ["T033"], "canonical_name": "Increased alveolar volume", "definition": "An abnormal elevation in alveolar volume. []"} {"concept_id": "C5539734", "aliases": [], "types": ["T047"], "canonical_name": "Combined pre- and post-capillary pulmonary hypertension", "definition": "Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). [ORCID:0000-0002-4095-8489, PMID:30545968]"} {"concept_id": "C5539735", "aliases": ["Anti-transglutaminase 2 antibody positivity"], "types": ["T034"], "canonical_name": "Anti-endomysial antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2). [ORCID:0000-0002-4095-8489, PMID:9518950]"} {"concept_id": "C5539736", "aliases": ["Intralobular lines"], "types": ["T033"], "canonical_name": "Intralobular septal thickening", "definition": "Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern. [ORCID:0000-0002-4095-8489, PMID:18195376, PMID:27852954]"} {"concept_id": "C5539737", "aliases": [], "types": ["T033"], "canonical_name": "Acetabular erosions", "definition": "Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint. [PMID:8793927]"} {"concept_id": "C5539738", "aliases": ["Aortic valve cusp calcification", "Aortic cusp calcification"], "types": ["T046"], "canonical_name": "Aortic valve leaflet calcification", "definition": "Deposition of calcium salts in the leaflets (cusps) of the aortic valve. [ORCID:0000-0002-4095-8489, PMID:22896576]"} {"concept_id": "C5539739", "aliases": [], "types": ["T047"], "canonical_name": "Mitral valve leaflet calcification", "definition": "Deposition of calcium salts in the leaflets (cusps) of the mitral valve. []"} {"concept_id": "C5539740", "aliases": ["Increased plasma levels of very long-chain fatty acid"], "types": ["T033"], "canonical_name": "Increased circulating very long-chain fatty acid concentration", "definition": "Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons. [PMID:9345094]"} {"concept_id": "C5539741", "aliases": ["Elevated circulating erythropoietin"], "types": ["T033"], "canonical_name": "Elevated circulating erythropoietin concentration", "definition": "Increased amount of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production. [PMID:30725682]"} {"concept_id": "C5539742", "aliases": [], "types": ["T184"], "definition": "The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette. [PMID:18195376]", "canonical_name": "Silhouette sign"} {"concept_id": "C5539743", "aliases": [], "types": ["T033"], "canonical_name": "Pulmonary pseudocavity", "definition": "A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia. [PMID:18195376]"} {"concept_id": "C5539744", "aliases": [], "types": ["T033"], "canonical_name": "Pulmonary parenchymal band", "definition": "A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleuran(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos. [PMID:18195376]"} {"concept_id": "C5539745", "aliases": ["Lung fungus ball"], "types": ["T033"], "canonical_name": "Pulmonary mycetoma", "definition": "A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma. [PMID:18195376]"} {"concept_id": "C5539746", "aliases": [], "types": ["T184"], "canonical_name": "Beaded septum sign", "definition": "Irregular and nodular thickening of interlobular septa reminiscent of a row of beads. [PMID:18195376]"} {"concept_id": "C5539747", "aliases": ["Pulmonary cavern"], "types": ["T033"], "canonical_name": "Pulmonary cavity", "definition": "A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick. [PMID:18195376, PMID:29518379]"} {"concept_id": "C5539748", "aliases": [], "types": ["T033"], "canonical_name": "Juxtaphrenic peak", "definition": "A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament. [PMID:18195376]"} {"concept_id": "C5539749", "aliases": [], "types": ["T033"], "canonical_name": "Air crescent", "definition": "An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer. [PMID:18195376]"} {"concept_id": "C5539750", "aliases": [], "types": ["T184"], "canonical_name": "Diminished health-related quality of life", "definition": "A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles. [PMID:18638419, PMID:19282701]"} {"concept_id": "C5539751", "aliases": ["Diminished physical health", "Decline in physical functional health"], "types": ["T033"], "canonical_name": "Diminished physical functioning", "definition": "A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning. []"} {"concept_id": "C5539752", "aliases": ["Abnormal morphology of the amygdala"], "types": ["T190"], "canonical_name": "Abnormal amygdala morphology", "definition": "A structural anomaly of the amygdala. []"} {"concept_id": "C5539753", "aliases": ["Amygdalar enlargement"], "types": ["T190"], "canonical_name": "Enlarged amygdala", "definition": "A increase in the volume (size) of the amygdyla. [ORCID:0000-0002-1735-8178, PMID:12933928, PMID:21047879, PMID:33044668]"} {"concept_id": "C5539754", "aliases": [], "types": ["T033"], "canonical_name": "Pulmonary oligemia", "definition": "Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow. [PMID:18195376]"} {"concept_id": "C5539755", "aliases": ["Positive carpal Hoffmann Tinel sign"], "types": ["T034"], "canonical_name": "Positive carpal Tinel sign", "definition": "The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve. [PMID:21524035, PMID:32310394]"} {"concept_id": "C5539756", "aliases": [], "types": ["T033"], "canonical_name": "Pulmonary blood flow redistribution", "definition": "Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung. [PMID:18195376]"} {"concept_id": "C5539757", "aliases": [], "types": ["T048"], "canonical_name": "Posttraumatic stress symptom", "definition": "A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating). [PMID:26611143]"} {"concept_id": "C5539758", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal red nucleus morphology", "definition": "Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement. [ORCID:0000-0002-1735-8178]"} {"concept_id": "C5539759", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal muscle fiber-type distribution", "definition": "Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types [PMID:27199166]"} {"concept_id": "C5539760", "aliases": ["Procedural memory deficit", "Impaired procedural memory"], "types": ["T048"], "canonical_name": "Procedural memory loss", "definition": "A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument. []"} {"concept_id": "C5539761", "aliases": ["Impaired declarative memory"], "types": ["T048"], "canonical_name": "Declarative memory loss", "definition": "Impaired ability to remember facts and events. [PMID:33524264]"} {"concept_id": "C5539762", "aliases": [], "types": ["T033"], "canonical_name": "Occupational disability", "definition": "This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities. []"} {"concept_id": "C5539763", "aliases": ["Chilblain-like lesion"], "types": ["T033"], "canonical_name": "Pseudo-chilblain", "definition": "Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet. [PMID:32348545, PMID:33479703]"} {"concept_id": "C5539764", "aliases": [], "types": ["T033"], "canonical_name": "Monomorphic vesicular eruption", "definition": "A type of vesicular eruption in which the vesicles are at same stages. [PMID:32348545]"} {"concept_id": "C5539765", "aliases": [], "types": ["T033"], "canonical_name": "Polymorphic vesicular eruption", "definition": "A type of vesicular eruption in which the vesicles are at different stages. []"} {"concept_id": "C5539766", "aliases": [], "types": ["T046"], "canonical_name": "Cortical sclerosis of the iliac wing", "definition": "Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing. [PMID:17404618]"} {"concept_id": "C5539767", "aliases": [], "types": ["T033"], "canonical_name": "Subpleural curvilinear line", "definition": "This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present). [PMID:18195376]"} {"concept_id": "C5539768", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary homogentisic acid", "definition": "An increased amount of homogentisic acid in the urine. [PMID:32809406]"} {"concept_id": "C5539769", "aliases": [], "types": ["T047"], "canonical_name": "Perioral hyperkeratosis", "definition": "Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth. [PMID:32965877]"} {"concept_id": "C5539770", "aliases": ["Anti-HMGCR autoantibodies", "Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibodies"], "types": ["T034"], "canonical_name": "Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity"} {"concept_id": "C5539771", "aliases": ["Increased phlegm"], "types": ["T033"], "canonical_name": "Increased sputum production", "definition": "An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway). [PMID:16983448, PMID:21121836]"} {"concept_id": "C5539772", "aliases": [], "types": ["T033"], "canonical_name": "Pulmonary interstitial thickening", "definition": "Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening. []"} {"concept_id": "C5539773", "aliases": ["Recurrent implantation failure"], "types": ["T033"], "canonical_name": "Repeated implantation failure", "definition": "Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles. [PMID:22976427, PMID:25473625]"} {"concept_id": "C5539774", "aliases": ["Anti-SRP antibody positivity"], "types": ["T034"], "canonical_name": "Anti-signal recognition particle antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle. [PMID:29582188, PMID:30639649, PMID:33093664]"} {"concept_id": "C5539775", "aliases": [], "types": ["T033"], "canonical_name": "EEG with frontal epileptiform discharges", "definition": "Focal epileptiform EEG discharges recorded in the frontal region. []"} {"concept_id": "C5539776", "aliases": [], "types": ["T033"], "canonical_name": "EEG with temporal epileptiform discharges", "definition": "Focal epileptiform EEG discharges recorded in the temporal region. [ORCID:0000-0002-1735-8178]"} {"concept_id": "C5539777", "aliases": [], "types": ["T033"], "canonical_name": "EEG with central epileptiform discharges", "definition": "Focal epileptiform EEG discharges recorded in the central region. [ORCID:0000-0002-1735-8178]"} {"concept_id": "C5539778", "aliases": [], "types": ["T033"], "canonical_name": "EEG with parietal epileptiform discharges", "definition": "Focal epileptiform EEG discharges recorded in the parietal region. [ORCID:0000-0002-1735-8178]"} {"concept_id": "C5539779", "aliases": [], "types": ["T033"], "canonical_name": "EEG with occipital epileptiform discharges", "definition": "Focal epileptiform EEG discharges recorded in the occipital region. [ORCID:0000-0002-1735-8178]"} {"concept_id": "C5539780", "aliases": [], "types": ["T033"], "canonical_name": "EEG with centrotemporal epileptiform discharges", "definition": "Focal epileptiform EEG discharges recorded in the centrotemporal region. [ORCID:0000-0002-1735-8178]"} {"concept_id": "C5539781", "aliases": ["Autonomic aura", "Vegetative aura", "Autonomic auras"], "types": ["T184"], "canonical_name": "Autonomic epileptic aura", "definition": "An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region. [ORCID:0000-0002-1735-8178, PMID:20926350]"} {"concept_id": "C5539782", "aliases": ["Abnormal dural venous sinus morphology", "Abnormality of the cerebral venous sinuses"], "types": ["T190"], "canonical_name": "Abnormal cerebral venous sinus morphology", "definition": "Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins. []"} {"concept_id": "C5539784", "aliases": [], "types": ["T047"], "canonical_name": "Low-grade vesicoureteral reflux", "definition": "Vesicoureteral reflux without dilation of the renal calyces (Grade I-II). [ORCID:0000-0002-2234-4248, PMID:18322164]"} {"concept_id": "C5539785", "aliases": [], "types": ["T047"], "canonical_name": "High-grade vesicoureteral reflux", "definition": "Vesicoureteral reflux with dilation of the renal calyces (Grade III - V). [ORCID:0000-0002-2234-4248, PMID:18322164]"} {"concept_id": "C5539786", "aliases": [], "types": ["T047"], "definition": "Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction. [ORCID:0000-0002-2234-4248, PMID:18322164, PMID:19668250]", "canonical_name": "Primary vesicoureteral reflux"} {"concept_id": "C5539787", "aliases": [], "types": ["T047"], "canonical_name": "Intrarenal reflux", "definition": "Severe vesicoureteral reflux reaching the kidney parenchyma. [ORCID:0000-0002-2234-4248, PMID:18322164, PMID:33738272]"} {"concept_id": "C5539788", "aliases": [], "types": ["T019"], "canonical_name": "Macular agenesis", "definition": "A congenital defect characterized by lack of development of the macula. []"} {"concept_id": "C5539789", "aliases": [], "types": ["T033"], "canonical_name": "Global cerebellar dysplasia"} {"concept_id": "C5539790", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal exteroceptive sensation", "definition": "A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. []"} {"concept_id": "C5539791", "aliases": [], "types": ["T033"], "canonical_name": "Reduced functional residual capacity", "definition": "An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation. [PMID:29763183]"} {"concept_id": "C5539792", "aliases": [], "types": ["T033"], "canonical_name": "Elevated functional residual capacity", "definition": "An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation. [PMID:29763183]"} {"concept_id": "C5539793", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal residual volume", "definition": "Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs). []"} {"concept_id": "C5539794", "aliases": [], "types": ["T033"], "canonical_name": "Reduced residual volume", "definition": "Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation. []"} {"concept_id": "C5539795", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal left ventricular end-diastolic volume", "definition": "Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole). [PMID:19159437, PMID:29446315]"} {"concept_id": "C5539796", "aliases": [], "types": ["T033"], "canonical_name": "Decreased left ventricular end-diastolic volume", "definition": "Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole). []"} {"concept_id": "C5539797", "aliases": [], "types": ["T033"], "canonical_name": "Impaired renal tubular reabsorption of magnesium", "definition": "Decreased renal tubular reabsorption of magnesium. [ORCID:0000-0002-2234-4248, PMID:25287933]"} {"concept_id": "C5539798", "aliases": [], "types": ["T033"], "canonical_name": "Decreased maximal oxygen uptake", "definition": "Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload. [PMID:29506981]"} {"concept_id": "C5539799", "aliases": [], "types": ["T033"], "canonical_name": "Death in adulthood", "definition": "Cessation of life at the age of 16 years or later. []"} {"concept_id": "C5539800", "aliases": [], "types": ["T033"], "canonical_name": "Death in middle age", "definition": "Death between the age of 40 and 60 years. [ORCID:0000-0002-6410-0882]"} {"concept_id": "C5539801", "aliases": [], "types": ["T033"], "canonical_name": "Death in late adulthood", "definition": "Death at an age of at least 60 years. [ORCID:0000-0002-6410-0882]"} {"concept_id": "C5539802", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal single motor unit action potential", "definition": "Abnormally high or low single motor unit action potential reading (-Pk Amps). [PMID:15961866]"} {"concept_id": "C5539803", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal RV/TLC ratio", "definition": "Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. [PMID:12934788]"} {"concept_id": "C5539804", "aliases": [], "types": ["T033"], "canonical_name": "Decreased RV/TLC ratio", "definition": "An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. [PMID:12934788]"} {"concept_id": "C5539805", "aliases": [], "types": ["T033"], "canonical_name": "Impaired renal tubular reabsorption of uric acid", "definition": "Decreased renal tubular reabsorption of uric acid. [ORCID:0000-0002-2234-4248, PMID:27105641, PMID:31474092]"} {"concept_id": "C5539806", "aliases": [], "types": ["T184"], "canonical_name": "Pulmonary imaging sign", "definition": "An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images. [PMID:31802270]"} {"concept_id": "C5539807", "aliases": [], "types": ["T019"], "canonical_name": "Leung cusp", "definition": "An additional cusp located in the middle of the occlusal surface. [PMID:31468724]"} {"concept_id": "C5539808", "aliases": [], "types": ["T190"], "canonical_name": "Barrel-shaped tooth", "definition": "A tooth crown with convex mesial and distal surfaces. [PMID:31468724]"} {"concept_id": "C5539809", "aliases": [], "types": ["T190"], "canonical_name": "Bulbous tooth", "definition": "A tooth crown with a marked cervical area constriction. [PMID:31468724]"} {"concept_id": "C5539810", "aliases": [], "types": ["T190"], "canonical_name": "Molar incisor malformation", "definition": "Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars. [PMID:31468724]"} {"concept_id": "C5539811", "aliases": [], "types": ["T080"], "canonical_name": "Triggered by cheese ingestion", "definition": "Applies to a sign or symptom that is provoked or brought about by eating cheese. [PMID:9398858]"} {"concept_id": "C5539812", "aliases": ["Flame-shaped pulp"], "types": ["T190"], "canonical_name": "Thistle tube shaped pulp", "definition": "A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations. [PMID:31468724]"} {"concept_id": "C5539813", "aliases": [], "types": ["T080"], "canonical_name": "Triggered by food ingestion", "definition": "Applies to a sign or symptom that is provoked or brought about by eating a certain food. []"} {"concept_id": "C5539814", "aliases": [], "types": ["T033"], "canonical_name": "Growth without growth hormone"} {"concept_id": "C5539815", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal leukocyte physiology", "definition": "A functional abnormality of a white blood cell. []"} {"concept_id": "C5539816", "aliases": ["Defects of leukocyte migration", "Abnormal leukocyte migration"], "types": ["T033"], "canonical_name": "Leukocyte migration defect", "definition": "Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization. []"} {"concept_id": "C5539817", "aliases": [], "types": ["T033"], "canonical_name": "Impaired leukocyte adhesion", "definition": "During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation. [PMID:23351991]"} {"concept_id": "C5539818", "aliases": ["Abnormal circulating sex steroid concentration", "Abnormal circulating gonadal steroid concentration", "Abnormal circulating gonadocorticoid concentration"], "types": ["T033"], "canonical_name": "Abnormal circulating sex hormone concentration", "definition": "Any deviation from the normal concentration of a sex hormone in the blood circulation []"} {"concept_id": "C5539819", "aliases": [], "types": ["T033"], "canonical_name": "Blistering by anatomical location", "definition": "Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur. []"} {"concept_id": "C5539820", "aliases": [], "types": ["T033"], "canonical_name": "Blistering by histological location", "definition": "Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa. [PMID:20055907]"} {"concept_id": "C5539821", "aliases": [], "types": ["T033"], "canonical_name": "Intra-epidermal blistering", "definition": "A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleave occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells. []"} {"concept_id": "C5539822", "aliases": ["Blistering with sub-lamina densa plane of cleavage"], "types": ["T033"], "canonical_name": "Sub-lamina densa cleavage", "definition": "A type of blistering in which the cleavage plane of blisters is located below the lamina densa. []"} {"concept_id": "C5539823", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal epidermis stratum granulosum morphology", "definition": "An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum. []"} {"concept_id": "C5539824", "aliases": [], "types": ["T033"], "canonical_name": "Absent keratohyalin granules", "definition": "Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin. [PMID:30725734]"} {"concept_id": "C5539825", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating 17 hydroxypregnenolone concentration", "definition": "Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids. []"} {"concept_id": "C5539826", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating dihydrotestosterone concentration", "definition": "A reduced concentration of dihydrotestosterone in the blood circulation. [PMID:20301592, PMID:31888681]"} {"concept_id": "C5539827", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating androstenedione concentration", "definition": "Any deviation from the normal concentration of androstenedione in the blood circulation. []"} {"concept_id": "C5539828", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating androstenedione concentration", "definition": "Reduced concentration of androstenedione in the blood circulation. []"} {"concept_id": "C5539829", "aliases": [], "types": ["T082"], "canonical_name": "Perilobular", "definition": "Situated or occurring around a lobe of an organ. []"} {"concept_id": "C5539830", "aliases": [], "types": ["T082"], "canonical_name": "Bronchocentric", "definition": "Centered in bronchi or bronchioles. []"} {"concept_id": "C5539831", "aliases": [], "types": ["T082"], "canonical_name": "Miliary", "definition": "Characterized by numerous small lesions said to resemble millet seed. []"} {"concept_id": "C5539832", "aliases": [], "types": ["T082"], "canonical_name": "Perilymphatic", "definition": "Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel). []"} {"concept_id": "C5539833", "aliases": [], "types": ["T033"], "canonical_name": "Mass on thoracic imaging", "definition": "A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diametern(without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features. []"} {"concept_id": "C5539834", "aliases": [], "types": ["T033"], "canonical_name": "Inferior mediastinal mass", "definition": "A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4). []"} {"concept_id": "C5539835", "aliases": [], "types": ["T033"], "canonical_name": "Middle mediastinal mass", "definition": "A type of inferior mediastinal mass that is located withinthe pericardium. []"} {"concept_id": "C5539836", "aliases": [], "types": ["T033"], "canonical_name": "Hyperdense pulmonary mass", "definition": "A type of pulmonary mass with high attenuation. []"} {"concept_id": "C5539837", "aliases": [], "types": ["T033"], "canonical_name": "Cavitating pulmonary mass", "definition": "Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm. [ORCID:0000-0002-4095-8489]"} {"concept_id": "C5539838", "aliases": [], "types": ["T047"], "canonical_name": "Livedoid dermatitis"} {"concept_id": "C5539839", "aliases": ["Elevated circulating interleukin-2 receptor alpha-chain"], "types": ["T033"], "canonical_name": "Elevated circulating soluble CD25 concentration", "definition": "Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response. [PMID:32619646]"} {"concept_id": "C5539840", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal renal vascular morphology", "definition": "Anomalous structure of a blood vessel in the kidney. []"} {"concept_id": "C5539841", "aliases": ["Abnormal kidney arterial blood vessel morphology"], "types": ["T190"], "canonical_name": "Abnormal intrarenal artery morphology", "definition": "An anomalous structure of an artery located in the kidney. []"} {"concept_id": "C5539842", "aliases": ["Abnormalities of arcuate arteries"], "types": ["T190"], "canonical_name": "Abnormal arcuate artery morphology", "definition": "Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla. []"} {"concept_id": "C5539843", "aliases": [], "types": ["T184"], "canonical_name": "Postprandial fullness", "definition": "Feeling excessively full after meals. [PMID:27781342]"} {"concept_id": "C5539844", "aliases": [], "types": ["T033"], "canonical_name": "Spinal hypomyelination", "definition": "Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis. [PMID:23643384]"} {"concept_id": "C5539845", "aliases": [], "types": ["T048"], "canonical_name": "Bilingual aphasia", "definition": "The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages. [PMID:31024369]"} {"concept_id": "C5539846", "aliases": [], "types": ["T033"], "canonical_name": "Oculomotor synkinesis", "definition": "Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction. [PMID:18004962]"} {"concept_id": "C5539847", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal arcuate vein morphology", "definition": "Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla). [KPMP:arosenberg]"} {"concept_id": "C5539848", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal interlobular vein morphology", "definition": "Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct). [KPMP:arosenberg]"} {"concept_id": "C5539849", "aliases": ["Abnormal morphology of the interlobular vein lumen"], "types": ["T190"], "canonical_name": "Abnormal interlobular vein lumen morphology", "definition": "Any structural anomaly located in the the inside space of the interlobular veins of the kidney. []"} {"concept_id": "C5539850", "aliases": [], "types": ["T033"], "canonical_name": "Cholesterol emboli within interlobular vein lumen", "definition": "Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. [KPMP:arosenberg, PMID:27012950]"} {"concept_id": "C5539851", "aliases": [], "types": ["T033"], "canonical_name": "Intraluminal thrombi within interlobular veins", "definition": "Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5539852", "aliases": [], "types": ["T033"], "canonical_name": "Organized thrombi within interlobular vein lumen", "definition": "Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5539853", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal colour of the oral mucosa"} {"concept_id": "C5539854", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal cardiac magnetic resonance imaging finding", "definition": "Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately. []"} {"concept_id": "C5539855", "aliases": [], "types": ["T033"], "canonical_name": "Elevated myocardial native T2", "definition": "Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema. [PMID:18581348]"} {"concept_id": "C5539856", "aliases": ["Delayed myocardial gadolinium enhancement"], "types": ["T033"], "canonical_name": "Myocardial late gadolinium enhancement", "definition": "Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium. [PMID:20704762]"} {"concept_id": "C5539857", "aliases": [], "types": ["T033"], "canonical_name": "Pericardial late gadolinium enhancement", "definition": "Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium. [PMID:21969014]"} {"concept_id": "C5539858", "aliases": ["Prolonged myocardial native T1"], "types": ["T033"], "canonical_name": "Elevated myocardial native T1", "definition": "Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity. [PMID:24617686]"} {"concept_id": "C5539859", "aliases": [], "types": ["T049"], "canonical_name": "Formation of multiple pronuclei during fertilization", "definition": "Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. [PMID:26550358, PMID:31704776]"} {"concept_id": "C5539860", "aliases": [], "types": ["T033"], "canonical_name": "Impaired renal tubular reabsorption of bicarbonate", "definition": "Decreased renal tubular reabsorption of bicarbonate. [ORCID:0000-0002-2234-4248, PMID:31474092]"} {"concept_id": "C5539861", "aliases": [], "types": ["T033"], "canonical_name": "History of congenital HPV infection", "definition": "A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn. [PMID:20300545]"} {"concept_id": "C5539862", "aliases": [], "types": ["T047"], "canonical_name": "Necrotizing ileitis"} {"concept_id": "C5539863", "aliases": [], "types": ["T034"], "canonical_name": "Anti-desmoglein-1 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule. []"} {"concept_id": "C5539864", "aliases": [], "types": ["T034"], "canonical_name": "Anti-desmoglein-3 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule. []"} {"concept_id": "C5539865", "aliases": [], "types": ["T034"], "canonical_name": "Anti-envoplakin antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions. [PMID:24275244]"} {"concept_id": "C5539866", "aliases": [], "types": ["T034"], "canonical_name": "Anti-periplakin antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin. [PMID:24275244]"} {"concept_id": "C5539867", "aliases": [], "types": ["T034"], "canonical_name": "Anti-desmoplakin I antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1. []"} {"concept_id": "C5539868", "aliases": [], "types": ["T034"], "canonical_name": "Anti-desmoplakin II antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II. []"} {"concept_id": "C5539869", "aliases": [], "types": ["T034"], "canonical_name": "Anti-BP230 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against BP230. [PMID:32048350]"} {"concept_id": "C5539870", "aliases": ["Anti-laminin 5 antibody positivity"], "types": ["T034"], "canonical_name": "Anti-laminin 332 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332. [PMID:21725315, PMID:24154702]"} {"concept_id": "C5539871", "aliases": [], "types": ["T034"], "canonical_name": "Anti-laminin 6 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6. []"} {"concept_id": "C5539872", "aliases": [], "types": ["T034"], "canonical_name": "Anti-laminin gamma1 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1. [PMID:24154702]"} {"concept_id": "C5539873", "aliases": [], "types": ["T034"], "canonical_name": "Anti-laminin antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane. []"} {"concept_id": "C5539874", "aliases": [], "types": ["T034"], "canonical_name": "Anti-integrin antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth. [PMID:33483531]"} {"concept_id": "C5539875", "aliases": [], "types": ["T034"], "canonical_name": "Anti-transglutaminase 6 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6. []"} {"concept_id": "C5539876", "aliases": [], "types": ["T034"], "canonical_name": "anti-LAD-1 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180. []"} {"concept_id": "C5539877", "aliases": [], "types": ["T034"], "canonical_name": "Anti-LABD97 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion. [PMID:11180014]"} {"concept_id": "C5539878", "aliases": ["AGA autoantibodies"], "types": ["T034"], "canonical_name": "Antigliadin antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin. [PMID:24052912]"} {"concept_id": "C5539879", "aliases": [], "types": ["T034"], "canonical_name": "Anti-reticulin antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin. [PMID:23365209]"} {"concept_id": "C5539880", "aliases": [], "types": ["T034"], "canonical_name": "Anti-type VII collagen antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII. [PMID:29619029]"} {"concept_id": "C5539881", "aliases": [], "types": ["T033"], "canonical_name": "False perception of self-motion", "definition": "A perception that one's body is moving or swaying despite lack of motion of the body. [PMID:29443215]"} {"concept_id": "C5539882", "aliases": [], "types": ["T033"], "canonical_name": "Non-spinning vertigo", "definition": "A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving). [PMID:27083889, PMID:32986636]"} {"concept_id": "C5539883", "aliases": ["Infection-ssociated lymphocytopenia"], "types": ["T047"], "canonical_name": "Infection-ssociated lymphopenia", "definition": "Decreased lymphocyte count during infections. [PMID:32569607]"} {"concept_id": "C5539884", "aliases": [], "types": ["T190"], "canonical_name": "Primary obstructive megaureter", "definition": "Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction. [PMID:23533926]"} {"concept_id": "C5539885", "aliases": [], "types": ["T033"], "canonical_name": "Reduced proportion of mucosal-associated invariant T cells", "definition": "A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count. [PMID:32161190]"} {"concept_id": "C5539886", "aliases": [], "types": ["T079"], "canonical_name": "Puerpural onset", "definition": "Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following. []"} {"concept_id": "C5539887", "aliases": [], "types": ["T049"], "canonical_name": "Abnormal apoptosis", "definition": "Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. [PMID:11420279]"} {"concept_id": "C5539888", "aliases": [], "types": ["T049"], "canonical_name": "Decreased FasL-mediated apoptosis", "definition": "A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis. [PMID:29617412]"} {"concept_id": "C5539889", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular proteinuria", "definition": "A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. nPMID: 19634399 []"} {"concept_id": "C5539890", "aliases": ["Developmental pulmonary anomaly"], "types": ["T019"], "canonical_name": "Abnormal lung development", "definition": "A structural defect associated with abnormal development of the lung. []"} {"concept_id": "C5539891", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal pulmonary alveolar system development"} {"concept_id": "C5539892", "aliases": [], "types": ["T034"], "canonical_name": "Anti-BP180 antibody positivity", "definition": "Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen. [PMID:32048350]"} {"concept_id": "C5539893", "aliases": [], "types": ["T033"], "canonical_name": "Glomerular crescent formation", "definition": "Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. [KPMP:arosenberg, PMID:32132388]"} {"concept_id": "C5539894", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal intrarenal vein morphology", "definition": "Abnormal structure of a vein located inside the kidney parenchyma. [KPMP:arosenberg]"} {"concept_id": "C5539895", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal sperm axoneme morphology", "definition": "Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC. [PMID:31781811]"} {"concept_id": "C5539896", "aliases": [], "types": ["T034"], "canonical_name": "Anti-H2A antibody positivity", "definition": "The presence of autoantibodies in the blood circulation that react against histone H2A. [ORCID:0000-0002-4095-8489]"} {"concept_id": "C5542183", "aliases": ["Increased urinary 8-oxo-Gsn level", "Increased urine 8-oxo-7,8-dihydroguanosine", "Increased urinary 8-oxo-7,8-dihydroguanosine", "Increased urine 8-oxo-GMP"], "types": ["T033"], "canonical_name": "Increased urinary 8-oxo-7,8-dihydroguanosine level", "definition": "An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine. []"} {"concept_id": "C5543367", "aliases": ["Tortuous lymphatics"], "types": ["T190"], "canonical_name": "Tortuous lymphatic vessels", "definition": "The presence of an increased number of twists and turns of lymphatic vessels. [PMID:26855770]"} {"concept_id": "C5543441", "aliases": [], "types": ["T019"], "canonical_name": "Abnormal temporal lobe morphology", "definition": "An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres. []"} {"concept_id": "C5543481", "aliases": [], "types": ["T033"], "canonical_name": "Paroxysmal tonic upgaze", "definition": "Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness. [PMID:29095389]"} {"concept_id": "C5543630", "aliases": [], "types": ["T047"], "canonical_name": "Posterior atrophy of corpus callosum", "definition": "The presence of atrophy (wasting) of the posterior portion of the corpus callosum. []"} {"concept_id": "C5550993", "aliases": [], "types": ["T019"], "definition": "Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry. [HPO:19179952]", "canonical_name": "Mulberry molar"} {"concept_id": "C5551005", "aliases": ["Marked hypotrichosis", "Hypotrichosis", "Sparse hair since birth", "Decreased hair growth on body"], "types": ["T033"], "definition": "Reduced density of hairs. [HPO:probinson, PMID:14676077]", "canonical_name": "Sparse hair"} {"concept_id": "C5551365", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal insertion of umbilical cord", "definition": "Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta. []"} {"concept_id": "C5551411", "aliases": ["Typical absence", "Typical absence seizures"], "types": ["T047"], "definition": "A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. [HPO:jalbers, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275]", "canonical_name": "Typical absence seizure"} {"concept_id": "C5551413", "aliases": ["Sensory impairment"], "types": ["T033"], "definition": "An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. [HPO:probinson]", "canonical_name": "Somatic sensory dysfunction"} {"concept_id": "C5551428", "aliases": [], "types": ["T191"], "definition": "A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.", "canonical_name": "Testicular seminoma"} {"concept_id": "C5551442", "aliases": ["Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody"], "types": ["T033"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR). [PMID:25979696, PMID:29225271]", "canonical_name": "Anti-AMPAR antibody positivity"} {"concept_id": "C5551489", "aliases": ["Anti CARPVIII antibody", "Anti-carbonic anhydrase-related protein VIII antibody"], "types": ["T033"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII). [PMID:23568983, PMID:26377085]", "canonical_name": "Anti-CARP VIII antibody"} {"concept_id": "C5551490", "aliases": ["Anti-collapsin response-mediated protein 5 antibody"], "types": ["T033"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against collapsin response-mediated protein 5 (CRMP5). [PMID:28074593, PMID:31624089]", "canonical_name": "Anti-CRMP5 antibody positivity"} {"concept_id": "C5551491", "aliases": ["Anti-ARHGAP26 antibody", "Anti-Ca antibody"], "types": ["T033"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26). [PMID:26298328, PMID:28601293, PMID:30158896]", "canonical_name": "Anti-RhoGTPase-activating protein 26 antibody"} {"concept_id": "C5551496", "aliases": ["Anti-GFAP antibody"], "types": ["T033"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP). [PMID:28120349, PMID:30663514, PMID:32019875, PMID:32827972]", "canonical_name": "Anti-glial fibrillary acidic protein antibody"} {"concept_id": "C5551501", "aliases": ["Anti-glutamate kainate receptor subunit 2 antibody"], "types": ["T033"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2). [PMID:33949707]", "canonical_name": "Anti-GluK2 antibody"} {"concept_id": "C5551506", "aliases": ["Anti-RyR antibody"], "types": ["T034"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor. [PMID:30918333]", "canonical_name": "Anti-ryanodine receptor antibody"} {"concept_id": "C5552766", "aliases": ["Anti-Ta antibody"], "types": ["T034"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2. [PMID:15179063, PMID:15215214, PMID:18223018, PMID:26664526, PMID:27460184, PMID:31044049, PMID:31454760]", "canonical_name": "Anti-Ma2 antibody positivity"} {"concept_id": "C5552799", "aliases": ["Eosinophilic pulmonary infiltration", "Pulmonary eosinophilic infiltration", "Pulmonary eosinophilic infiltrate"], "types": ["T033"], "definition": "The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia. [PMID:19618037, PMID:21428117]", "canonical_name": "Eosinophilic pneumonia"} {"concept_id": "C5552833", "aliases": ["Anti-MuSK antibody positivity"], "types": ["T034"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against muscle-specific tyrosine kinase (MuSK). [PMID:29321424, PMID:32830177]", "canonical_name": "Anti-anti-muscle-specific tyrosine kinase antibody"} {"concept_id": "C5552970", "aliases": ["Anti-CV2/collapsin response mediator protein (CRMP)5 antibody", "Anti-CV2/CRMP5 antibody"], "types": ["T034"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum. [PMID:18931014, PMID:31656691, PMID:32110228]", "canonical_name": "Anti-CV2 antibody"} {"concept_id": "C5552993", "aliases": ["Anti-Neuronal Nuclear Antibody type-1 antibody", "Anti-ANNA-1 antibody"], "types": ["T034"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu. [PMID:11344832, PMID:18931014, PMID:19015226, PMID:25764259, PMID:32851899]", "canonical_name": "Anti-Hu antibody positivity"} {"concept_id": "C5553008", "aliases": ["Talus aplasia", "Talar aplasia"], "types": ["T019"], "definition": "Absent talus owing to a congenital defect. [PMID:28436373]", "canonical_name": "Absent talus"} {"concept_id": "C5553013", "aliases": ["Anti-ANNA-2 antibody"], "types": ["T034"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, ,an antineuronal antibody. [PMID:15179063, PMID:29332416, PMID:32170042]", "canonical_name": "Anti-Ri antibody"} {"concept_id": "C5553937", "aliases": ["Anti-Tr/DNER antibody", "Anti-delta/notch-like epidermal growth factor-related receptor antibody"], "types": ["T116", "T129"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr. [PMID:15179063, PMID:25745634, PMID:26377319]", "canonical_name": "PCA-Tr"} {"concept_id": "C5554001", "aliases": [], "types": ["T046"], "canonical_name": "Fetal vascular malperfusion", "definition": "The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.). [PMID:27223167]"} {"concept_id": "C5558248", "aliases": [], "types": ["T033"], "canonical_name": "CNS foam cells", "definition": "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system. []"} {"concept_id": "C5558249", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal peritubular capillary morphology", "definition": "Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, []"} {"concept_id": "C5558250", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal cortical peritubular capillary morphology", "definition": "Anomalous structure of the peritubular capillaries located in the cortex of the kidney. []"} {"concept_id": "C5558251", "aliases": ["Multilamellation of basement membranes within cortical peritubular capillaries"], "types": ["T033"], "canonical_name": "Multilamellation of cortical peritubular capillary basement membranes", "definition": "Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers. [KPMP:arosenberg, PMID:21720964]"} {"concept_id": "C5558252", "aliases": [], "types": ["T047"], "canonical_name": "Cortical peritubular capillaritis", "definition": "Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. [KPMP:arosenberg, PMID:25738252]"} {"concept_id": "C5558253", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal cortical peritubular capillary lumen morphology", "definition": "Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558254", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal medullary peritubular capillary morphology", "definition": "Anomalous structure of the peritubular capillaries located in the medulla of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558255", "aliases": [], "types": ["T047"], "canonical_name": "Medullary peritubular capillaritis", "definition": "Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. [KPMP:arosenberg]"} {"concept_id": "C5558256", "aliases": [], "types": ["T033"], "canonical_name": "Medullary peritubular capillary erythrocyte congestion", "definition": "Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open). [KPMP:arosenberg, PMID:28794065]"} {"concept_id": "C5558257", "aliases": ["Multilamellation of basement membranes within medullary peritubular capillaries"], "types": ["T033"], "canonical_name": "Multilamellation of medullary peritubular capillary basement membranes", "definition": "Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers. [KPMP:arosenberg]"} {"concept_id": "C5558258", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal medullary peritubular capillary lumen morphology", "definition": "Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney. []"} {"concept_id": "C5558259", "aliases": ["Cholesterol emboli within the medullary peritubular capillary lumen"], "types": ["T046"], "canonical_name": "Medullary peritubular capillary lumen cholesterol emboli", "definition": "Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. [KPMP:arosenberg]"} {"concept_id": "C5558260", "aliases": ["Intraluminal thrombi within medullary peritubular capillaries"], "types": ["T046"], "canonical_name": "Medullary peritubular capillary intraluminal thrombi", "definition": "Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558261", "aliases": ["Organized thrombi within the medullary peritubular capillary lumen"], "types": ["T046"], "canonical_name": "Medullary peritubular capillary lumen organized thrombi", "definition": "Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney. []"} {"concept_id": "C5558262", "aliases": [], "types": ["T046"], "canonical_name": "Cortical peritubular capillary lumen cholesterol emboli", "definition": "Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. []"} {"concept_id": "C5558263", "aliases": ["Intraluminal thrombi within cortical peritubular capillaries"], "types": ["T046"], "canonical_name": "Cortical peritubular capillary intraluminal thrombi", "definition": "Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney. []"} {"concept_id": "C5558264", "aliases": [], "types": ["T046"], "canonical_name": "Cortical peritubular capillary lumen organized thrombi", "definition": "Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558265", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal arcuate vein lumen morphology", "definition": "Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558266", "aliases": ["Cholesterol emboli within arcuate vein lumen"], "types": ["T046"], "canonical_name": "Arcuate vein lumen cholesterol emboli", "definition": "Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. [KPMP:arosenberg]"} {"concept_id": "C5558267", "aliases": ["Intraluminal thrombi within arcuate veins"], "types": ["T046"], "canonical_name": "Arcuate vein intraluminal thrombi", "definition": "Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558268", "aliases": ["Organized thrombi within arcuate vein lumen"], "types": ["T046"], "canonical_name": "Arcuate vein lumen organized thrombi", "definition": "Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558269", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal arcuate vein intima/media morphology", "definition": "Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558270", "aliases": ["Intimal mucoid edema within arcuate veins"], "types": ["T046"], "canonical_name": "Arcuate vein intimal mucoid edema", "definition": "Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining. []"} {"concept_id": "C5558271", "aliases": ["Myxomatous change within arcuate vein intima/media"], "types": ["T047"], "canonical_name": "Arcuate vein intimal/medial myxomatous degeneration", "definition": "Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558272", "aliases": ["Amyloidosis within arcuate vein intima/media"], "types": ["T047"], "canonical_name": "Arcuate vein intima/medial amyloidosis", "definition": "Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. [KPMP:arosenberg]"} {"concept_id": "C5558273", "aliases": ["Abnormal interlobular artery morphology"], "types": ["T190"], "canonical_name": "Abnormal cortical radial artery morphology", "definition": "Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney. []"} {"concept_id": "C5558274", "aliases": ["Abnormal interlobular arterial lumen morphology"], "types": ["T190"], "canonical_name": "Abnormal cortical radial artery lumen morphology", "definition": "Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney. []"} {"concept_id": "C5558275", "aliases": [], "types": ["T046"], "canonical_name": "Cortical radial artery lumen cholesterol emboli", "definition": "Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. [KPMP:arosenberg]"} {"concept_id": "C5558276", "aliases": ["Abnormalities of the arcuate arterial intima/media"], "types": ["T190"], "canonical_name": "Abnormal arcuate artery intima/media morphology", "definition": "Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla. []"} {"concept_id": "C5558277", "aliases": ["Amyloidosis within interlobular arterial intima/media", "Interlobular arterial intima/media amyloidosis"], "types": ["T047"], "canonical_name": "Cortical radial artery intimal/medial amyloidosis", "definition": "Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy [KPMP:arosenberg]"} {"concept_id": "C5558278", "aliases": ["Abnormalities of the interlobular arterial intima/media"], "types": ["T190"], "canonical_name": "Abnormal cortical radial artery intima/media morphology", "definition": "Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney. []"} {"concept_id": "C5558279", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal renal arteriole morphology", "definition": "Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents. [PMID:29489242]"} {"concept_id": "C5558280", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal renal arteriole lumen morphology", "definition": "Abnormal structural characteristics of the interior space (lumen) of renal arterioles. [KPMP:arosenberg]"} {"concept_id": "C5558281", "aliases": ["Cholesterol emboli within the arteriolar lumen"], "types": ["T046"], "canonical_name": "Renal arteriolar lumen cholesterol emboli", "definition": "Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. [KPMP:arosenberg]"} {"concept_id": "C5558282", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal renal arteriole intima/media morphology", "definition": "Any structural anomaly located in the inner or middle layer of the arterioles of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558283", "aliases": [], "types": ["T046"], "canonical_name": "Renal arteriolar lumen organized thrombi", "definition": "Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney. []"} {"concept_id": "C5558284", "aliases": [], "types": ["T046"], "canonical_name": "Renal arteriolar intraluminal thrombi", "definition": "Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558285", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal renal arteriole endothelium morphology", "definition": "Any structural anomaly of the lining (endothelium) of the arterioles of the kidney. []"} {"concept_id": "C5558286", "aliases": ["Abnormalities of the arcuate arterial lumen"], "types": ["T190"], "canonical_name": "Abnormal arcuate artery lumen morphology", "definition": "Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney. []"} {"concept_id": "C5558287", "aliases": ["Cholesterol emboli within arcuate arterial lumen"], "types": ["T046"], "canonical_name": "Arcuate artery lumen cholesterol emboli", "definition": "Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. []"} {"concept_id": "C5558288", "aliases": ["Intraluminal thrombi within arcuate arterial lumen"], "types": ["T046"], "canonical_name": "Arcuate artery intraluminal thrombi", "definition": "Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney. []"} {"concept_id": "C5558289", "aliases": ["Organized thrombi within arcuate arterial lumen"], "types": ["T046"], "canonical_name": "Arcuate artery lumen organized thrombi", "definition": "Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney. []"} {"concept_id": "C5558290", "aliases": ["Amyloidosis within renal arteriolar intima/media"], "types": ["T047"], "canonical_name": "Renal arteriole intima/media amyloidosis", "definition": "Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. [KPMP:arosenberg]"} {"concept_id": "C5558291", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal arcuate artery endothelium morphology", "definition": "Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney. []"} {"concept_id": "C5558292", "aliases": ["Endotheliosis within arcuate arteries"], "types": ["T047"], "canonical_name": "Arcuate artery endotheliosis", "definition": "Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling. [KPMP:arosenberg]"} {"concept_id": "C5558293", "aliases": ["Endoarterial hypercellularity within arcuate artery"], "types": ["T033"], "canonical_name": "Arcuate artery endoarterial hypercellularity", "definition": "Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558294", "aliases": [], "types": ["T047"], "canonical_name": "Renal arteriole intima/media hyalinosis", "definition": "Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis. [KPMP:arosenberg]"} {"concept_id": "C5558295", "aliases": ["Arteriosclerosis within arcuate arterial intima/media"], "types": ["T047"], "canonical_name": "Arcuate artery intima/media arteriosclerosis", "definition": "Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina. [KPMP:arosenberg]"} {"concept_id": "C5558296", "aliases": [], "types": ["T047"], "canonical_name": "Renal intimal/medial arteriolitis", "definition": "Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural. [KPMP:arosenberg]"} {"concept_id": "C5558297", "aliases": [], "types": ["T047"], "canonical_name": "Renal arteriole intima/media arteriolosclerosis", "definition": "Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina. [KPMP:arosenberg]"} {"concept_id": "C5558298", "aliases": [], "types": ["T047"], "canonical_name": "Renal arteriole medial atrophy", "definition": "Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558299", "aliases": ["Medial hypertrophy within arcuate veins"], "types": ["T046"], "canonical_name": "Arcuate vein medial hypertrophy", "definition": "Increased thickness of middle layer of the arcuate veins of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558300", "aliases": ["Medial atrophy within arcuate veins"], "types": ["T047"], "canonical_name": "Arcuate vein medial atrophy", "definition": "Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558301", "aliases": ["Medial hypertrophy within interlobular arteries", "Interlobular artery medial hypertrophy"], "types": ["T046"], "canonical_name": "Cortical radial artery medial hypertrophy", "definition": "Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. []"} {"concept_id": "C5558302", "aliases": ["Medial atrophy within interlobular arteries", "Interlobular artery medial atrophy"], "types": ["T047"], "canonical_name": "Cortical radial artery medial atrophy", "definition": "Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558303", "aliases": ["Arteritis within interlobular arterial intima/media", "Interlobular artery medial/intimal arteriitis"], "types": ["T047"], "canonical_name": "Cortical radial artery medial/intimal arteriitis", "definition": "Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney. []"} {"concept_id": "C5558304", "aliases": ["Amyloidosis within arcuate arterial intima/media"], "types": ["T047"], "canonical_name": "Arcuate artery intima/media amyloidosis", "definition": "Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. []"} {"concept_id": "C5558305", "aliases": [], "types": ["T046"], "canonical_name": "Arcuate artery intimal mucoid edema", "definition": "Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. [KPMP:arosenberg]"} {"concept_id": "C5558306", "aliases": [], "types": ["T047"], "canonical_name": "Medial/intimal arcuate venosclerosis", "definition": "Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. [KPMP:arosenberg]"} {"concept_id": "C5558307", "aliases": ["Venulitis within arcuate vein intima/media", "Medial/intimal arcuate venulitis"], "types": ["T047"], "canonical_name": "Arcuate intimal/medial venulitis", "definition": "Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural. []"} {"concept_id": "C5558308", "aliases": ["Medial hypertrophy within arterioles"], "types": ["T046"], "canonical_name": "Renal arteriole medial hypertrophy", "definition": "Increased thickness of middle layer of the arterioles of the kidney. []"} {"concept_id": "C5558309", "aliases": ["Accumulated storage material within arteriolar intima/media"], "types": ["T033"], "canonical_name": "Renal arteriole intima/media storage material accumulation", "definition": "Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney. []"} {"concept_id": "C5558310", "aliases": ["Endoarterial hypercellularity within arterioles"], "types": ["T033"], "canonical_name": "Renal arteriole endoarterial hypercellularity", "definition": "Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558311", "aliases": [], "types": ["T033"], "canonical_name": "Renal arteriole leukocytic endoarterial hypercellularity", "definition": "A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). [KPMP:arosenberg]"} {"concept_id": "C5558312", "aliases": ["Endoarterial hypercellularity within arterioles consisting of foam cells"], "types": ["T033"], "canonical_name": "Renal arteriole foam cell endoarterial hypercellularity", "definition": "A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. [KPMP:arosenberg]"} {"concept_id": "C5558313", "aliases": ["Endoarterial hypercellularity within arterioles consisting of neutrophils"], "types": ["T033"], "canonical_name": "Renal arteriole neutrophil endoarterial hypercellularity", "definition": "A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. [KPMP:arosenberg]"} {"concept_id": "C5558314", "aliases": ["Endoarterial hypercellularity within arterioles consisting of lymphocytes"], "types": ["T033"], "canonical_name": "Renal arteriole lymphocyte endoarterial hypercellularity", "definition": "A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen. []"} {"concept_id": "C5558315", "aliases": ["Renal arteriole intimal/medial onion skinning", "Renal arteriole intima/media multilamellation", "Multilamellation (onion skinning) within renal arteriole intima/media"], "types": ["T033"], "canonical_name": "Renal arteriole intimal/medial multilamellation", "definition": "Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558316", "aliases": ["Endoarterial hypercellularity within arcuate artery consisting of leukocytes"], "types": ["T033"], "canonical_name": "Arcuate artery endoarterial leukocyte hypercellularity", "definition": "Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). [KPMP:arosenberg]"} {"concept_id": "C5558317", "aliases": ["Endoarterial hypercellularity within arcuate artery consisting of foam cells"], "types": ["T033"], "canonical_name": "Arcuate artery endoarterial foam cell hypercellularity", "definition": "A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. [KPMP:arosenberg]"} {"concept_id": "C5558318", "aliases": ["Endoarterial hypercellularity within arcuate artery consisting of neutrophils"], "types": ["T033"], "canonical_name": "Arcuate artery endoarterial neutrophil hypercellularity", "definition": "A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. [KPMP:arosenberg]"} {"concept_id": "C5558319", "aliases": ["Endoarterial hypercellularity within arcuate artery consisting of lymphocytes"], "types": ["T033"], "canonical_name": "Arcuate artery endoarterial lymphocyte hypercellularity", "definition": "A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. [KPMP:arosenberg]"} {"concept_id": "C5558320", "aliases": [], "types": ["T046"], "canonical_name": "Arcuate artery intima/media necrosis", "definition": "Death of tissue in the inner or middle layer of the arcuate artery of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558321", "aliases": ["Coagulative necrosis within interlobular arterial intima/media"], "types": ["T046"], "canonical_name": "Arcuate artery intima/media coagulative necrosis", "definition": "A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. [KPMP:arosenberg]"} {"concept_id": "C5558322", "aliases": ["Liquefactive necrosis of the arcuate artery intima/media"], "types": ["T046"], "canonical_name": "Arcuate artery intima/media liquefactive necrosis", "definition": "A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. [KPMP:arosenberg]"} {"concept_id": "C5558323", "aliases": ["Multilamellation (onion skinning) within arteriolar intima/media", "Renal arteriole intima/media onion skinning"], "types": ["T033"], "canonical_name": "Arcuate vein intimal/medial storage material accumulation", "definition": "Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558324", "aliases": ["Necrosis within interlobular arterial intima/media"], "types": ["T046"], "canonical_name": "Cortical radial artery intima/media necrosis", "definition": "Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558325", "aliases": ["Liquefactive necrosis within interlobular arterial intima/media"], "types": ["T046"], "canonical_name": "Cortical radial artery intima/media liquefactive necrosis", "definition": "A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. [KPMP:arosenberg]"} {"concept_id": "C5558326", "aliases": [], "types": ["T046"], "canonical_name": "Cortical radial artery intima/media coagulative necrosis", "definition": "A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. [KPMP:arosenberg]"} {"concept_id": "C5558327", "aliases": [], "types": ["T046"], "canonical_name": "Renal arteriole intima/media necrosis", "definition": "Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558328", "aliases": ["Liquefactive necrosis of the renal arteriolar intima/media"], "types": ["T046"], "canonical_name": "Renal arteriole intima/media liquefactive necrosis", "definition": "A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. []"} {"concept_id": "C5558329", "aliases": [], "types": ["T046"], "canonical_name": "Renal arteriole intima/media coagulative necrosis", "definition": "A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. [KPMP:arosenberg]"} {"concept_id": "C5558330", "aliases": ["Granulomatous arteriolitis within arteriolar intima/media"], "types": ["T047"], "canonical_name": "Granulomatous arteriolitis of the arteriolar intima/media", "definition": "A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. [KPMP:arosenberg]"} {"concept_id": "C5558331", "aliases": ["Necrosis within arcuate vein intima/media"], "types": ["T046"], "canonical_name": "Arcuate vein medial/intimal necrosis", "definition": "Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney. []"} {"concept_id": "C5558332", "aliases": ["Coagulative necrosis within arcuate vein intima/media"], "types": ["T046"], "canonical_name": "Arcuate vein medial/intimal coagulative necrosis", "definition": "A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. [KPMP:arosenberg]"} {"concept_id": "C5558333", "aliases": ["Liquefactive necrosis within arcuate vein intima/media"], "types": ["T046"], "canonical_name": "Arcuate vein medial/intimal liquefactive necrosis", "definition": "A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. [KPMP:arosenberg]"} {"concept_id": "C5558334", "aliases": [], "types": ["T047"], "canonical_name": "Arcuate intimal/medial granulomatous venulitis", "definition": "A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. [KPMP:arosenbereg]"} {"concept_id": "C5558335", "aliases": [], "types": ["T033"], "canonical_name": "Arcuate vein intima/media crystal accumulation", "definition": "Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558336", "aliases": ["Accumulated crystals within renal arteriolar intima/media"], "types": ["T033"], "canonical_name": "Renal arteriole intima/media crystal accumulation", "definition": "Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney. []"} {"concept_id": "C5558337", "aliases": ["Arteritis within arcuate arterial intima/media"], "types": ["T047"], "canonical_name": "Arcuate artery intima/media arteriitis", "definition": "Inflammation of the inner or middle layer of the arcuate arteries of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558338", "aliases": ["Granulomatous arteritis within arcuate arterial intima/media"], "types": ["T047"], "canonical_name": "Arcuate artery intima/media granulomatous arteriitis", "definition": "A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. []"} {"concept_id": "C5558339", "aliases": ["Intraluminal thrombi within interlobular arterial lumen"], "types": ["T046"], "canonical_name": "Cortical radial artery intraluminal thrombi", "definition": "Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558340", "aliases": ["Organized thrombi within interlobular arterial lumen"], "types": ["T046"], "canonical_name": "Cortical radial artery intraluminal organized thrombi", "definition": "Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558341", "aliases": ["Abnormalities of the interlobular arterial endothelium"], "types": ["T190"], "canonical_name": "Abnormal cortical radial artery endothelium morphology", "definition": "Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558342", "aliases": ["Endotheliosis within interlobular arteries"], "types": ["T047"], "canonical_name": "Cortical radial artery endotheliosis", "definition": "Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. [KPMP:arosenberg]"} {"concept_id": "C5558343", "aliases": ["Endoarterial hypercellularity within interlobular artery"], "types": ["T033"], "canonical_name": "Cortical radial artery hypercellularity", "definition": "Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558344", "aliases": ["Endoarterial hypercellularity within interlobular artery consisting of leukocytes"], "types": ["T033"], "canonical_name": "Cortical radial artery leukocyte hypercellularity", "definition": "A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). []"} {"concept_id": "C5558345", "aliases": ["Endoarterial hypercellularity within interlobular artery consisting of lymphocytes"], "types": ["T033"], "canonical_name": "Cortical radial artery lymphocyte hypercellularity", "definition": "A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. [KPMP:arosenberg]"} {"concept_id": "C5558346", "aliases": ["Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils"], "types": ["T033"], "canonical_name": "Cortical radial artery neutrophil hypercellularity", "definition": "A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries. []"} {"concept_id": "C5558347", "aliases": ["Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells"], "types": ["T033"], "canonical_name": "Cortical radial artery foam cell hypercellularity", "definition": "A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558348", "aliases": ["Arteriosclerosis within interlobular arterial intima/media"], "types": ["T047"], "canonical_name": "Cortical radial artery intima/media arteriosclerosis", "definition": "Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. [KPMP:arosenberg]"} {"concept_id": "C5558349", "aliases": ["Intimal mucoid edema within interlobular arterial intima/media"], "types": ["T046"], "canonical_name": "Cortical radial artery intimal mucoid edema", "definition": "Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. [KPMP:arosenberg]"} {"concept_id": "C5558350", "aliases": ["Multilamellation (onion skinning) within interlobular arterial intima/media", "Cortical radial artery intima/media onion skinning"], "types": ["T033"], "canonical_name": "Cortical radial artery intima/media multilamellation", "definition": "Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. [KPMP:arosenberg]"} {"concept_id": "C5558351", "aliases": [], "types": ["T047"], "canonical_name": "Cortical radial artery medial/intimal granulomatous arteriitis", "definition": "A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. [KPMP:arosenberg]"} {"concept_id": "C5558352", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal interlobular vein intima/media morphology", "definition": "Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. []"} {"concept_id": "C5558353", "aliases": ["Venosclerosis within interlobular vein intima/media"], "types": ["T047"], "canonical_name": "Interlobular intima/media venosclerosis", "definition": "Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558354", "aliases": ["Intimal mucoid edema within interlobular veins"], "types": ["T046"], "canonical_name": "Interlobular vein intimal mucoid edema", "definition": "Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. []"} {"concept_id": "C5558355", "aliases": ["Amyloidosis within interlobular vein intima/media"], "types": ["T047"], "canonical_name": "Interlobular vein intima/media amyloidosis", "definition": "Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy [KPMP:arosenberg]"} {"concept_id": "C5558356", "aliases": ["Venulitis within interlobular vein intima/media"], "types": ["T047"], "canonical_name": "Interlobular vein intima/media venulitis", "definition": "Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. [KPMP:arosenberg]"} {"concept_id": "C5558357", "aliases": ["Granulomatous venulitis within interlobular vein intima/media"], "types": ["T047"], "canonical_name": "Interlobular vein intima/media granulomatous venulitis", "definition": "A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. [KPMP:arosenberg]"} {"concept_id": "C5558358", "aliases": ["Necrosis within interlobular vein intima/media"], "types": ["T046"], "canonical_name": "Interlobular vein intima/media necrosis", "definition": "Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558359", "aliases": ["Liquefactive necrosis within interlobular vein intima/media"], "types": ["T046"], "canonical_name": "Interlobular vein intima/media liquefactive necrosis", "definition": "A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. [KPMP:arosenberg]"} {"concept_id": "C5558360", "aliases": [], "types": ["T046"], "canonical_name": "Interlobular vein intima/media coagulative necrosis", "definition": "A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. [KPMP:arosenberg]"} {"concept_id": "C5558361", "aliases": ["Medial atrophy within interlobular veins"], "types": ["T047"], "canonical_name": "Interlobular vein medial atrophy", "definition": "Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558362", "aliases": ["Medial hypertrophy within interlobular veins"], "types": ["T046"], "canonical_name": "Interlobular vein medial hypertrophy", "definition": "Increased thickness of middle layer of the interlobular veins of the kidney. [KPMP:arosenberg]"} {"concept_id": "C5558363", "aliases": ["Multilamellation (onion skinning) within interlobular vein intima/media", "Interlobular vein intima/media onion skinning"], "types": ["T033"], "canonical_name": "Interlobular vein intima/media multilamellation", "definition": "Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. [KPMP:arosenberg]"} {"concept_id": "C5558364", "aliases": [], "types": ["T190"], "canonical_name": "Absent second fingernail", "definition": "Absence of the fingernail of the index (second) finger. [PMID:33568816]"} {"concept_id": "C5558365", "aliases": ["Ventral fingernail", "Palmar fingernail"], "types": ["T190"], "canonical_name": "Volar fingernail", "definition": "The presence of an extra nail on the palmar (volar, ventral) surface of the finger. [PMID:20724029]"} {"concept_id": "C5558366", "aliases": [], "types": ["T033"], "canonical_name": "Reduced beta-hexosaminidase activity", "definition": "Diminished activity of the enzyme beta-hexosaminidase in the blood circulation. [PMID:33407268]"} {"concept_id": "C5558367", "aliases": [], "types": ["T046"], "canonical_name": "Amygdala microinfarct", "definition": "An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically. [ORCID:0000-0003-2307-1226, PMID:10867785]"} {"concept_id": "C5558368", "aliases": [], "types": ["T046"], "canonical_name": "Hippocampal microinfarct", "definition": "An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically. [ORCID:0000-0003-2307-1226, PMID:10867785]"} {"concept_id": "C5558369", "aliases": ["Cartilaginous malacia"], "types": ["T047"], "canonical_name": "Cartilaginous tracheobronchomalacia", "definition": "Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness. []"} {"concept_id": "C5558370", "aliases": [], "types": ["T033"], "canonical_name": "Dependency on parenteral nutrition", "definition": "Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition. []"} {"concept_id": "C5558371", "aliases": [], "types": ["T033"], "canonical_name": "Microvillus inclusions", "definition": "The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes. [PMID:26830108]"} {"concept_id": "C5558372", "aliases": [], "types": ["T033"], "canonical_name": "Microvillar PAS-positive secretory granules", "definition": "The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures. [PMID:26830108]"} {"concept_id": "C5558373", "aliases": [], "types": ["T033"], "canonical_name": "Perinuclear cardiomyocyte vacuolization", "definition": "Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart. [PMID:32514796]"} {"concept_id": "C5558374", "aliases": [], "types": ["T019"], "canonical_name": "Single-lobed right lung", "definition": "A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes. [PMID:17853480]"} {"concept_id": "C5558375", "aliases": ["CFH autoantibodies"], "types": ["T034"], "canonical_name": "Anti-Complement factor H antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H. [ORCID:0000-0002-3387-1836, PMID:34032207, PMID:34032209]"} {"concept_id": "C5558376", "aliases": ["Anti-PLA2R antibody positivity"], "types": ["T034"], "canonical_name": "Anti-phospholipase A2 receptor antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor. [ORCID:0000-0002-3387-1836, PMID:34169209, PMID:34277215]"} {"concept_id": "C5558377", "aliases": ["Medial broadening of eyebrows"], "types": ["T033"], "canonical_name": "Broad medial eyebrow", "definition": "Regional increase in the width (height) of the middle portion of the eyebrow. []"} {"concept_id": "C5558378", "aliases": [], "types": ["T033"], "canonical_name": "Decreased dendritic spine number", "definition": "An abnormal reduction in the amount of spines on a given dendrite. []"} {"concept_id": "C5558379", "aliases": [], "types": ["T033"], "canonical_name": "Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio", "definition": "A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation. [PMID:26306627]"} {"concept_id": "C5558380", "aliases": [], "types": ["T047"], "canonical_name": "Opto-chiasmatic atrophy", "definition": "Wasting (atrophy) of the optic chiasm. [PMID:34161705]"} {"concept_id": "C5558381", "aliases": [], "types": ["T033"], "canonical_name": "Increased megakaryocyte colony forming unit count", "definition": "Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow. [PMID:10891439]"} {"concept_id": "C5558382", "aliases": [], "types": ["T191"], "canonical_name": "Curvilinear pericallosal lipoma", "definition": "A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum. [ORCID:0000-0002-3302-4610, PMID:28067000, PMID:30104143, PMID:31285412]"} {"concept_id": "C5558383", "aliases": [], "types": ["T191"], "canonical_name": "Tubulonodular pericallosal lipoma", "definition": "A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles. [ORCID:0000-0002-3302-4610, PMID:1885799, PMID:31587959]"} {"concept_id": "C5558384", "aliases": [], "types": ["T033"], "canonical_name": "Cavitating pulmonary nodule", "definition": "Thick-walled abnormal gas-filled interstitial nodule within a lung. [ORCID:0000-0002-4095-8489]"} {"concept_id": "C5558385", "aliases": ["Anti-human leukocyte antigen antibody positivity"], "types": ["T034"], "canonical_name": "Anti-HLA antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA). [PMID:29985463]"} {"concept_id": "C5558386", "aliases": [], "types": ["T034"], "canonical_name": "Anti-class I HLA antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C). []"} {"concept_id": "C5558387", "aliases": [], "types": ["T034"], "canonical_name": "Anti-class II HLA antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR). []"} {"concept_id": "C5558388", "aliases": [], "types": ["T034"], "canonical_name": "Anti-HLA-A antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A). []"} {"concept_id": "C5558389", "aliases": [], "types": ["T034"], "canonical_name": "Anti-HLA-A IgG1 antibody positivity", "definition": "The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A). []"} {"concept_id": "C5558390", "aliases": [], "types": ["T034"], "canonical_name": "Anti-HLA-A IgG3 antibody positivity", "definition": "The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A). []"} {"concept_id": "C5558391", "aliases": [], "types": ["T034"], "canonical_name": "Anti-HLA-B antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B). []"} {"concept_id": "C5558392", "aliases": [], "types": ["T034"], "canonical_name": "Anti-HLA-B IgG1 antibody positivity", "definition": "The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B). []"} {"concept_id": "C5558393", "aliases": [], "types": ["T034"], "canonical_name": "Anti-HLA-B IgG3 antibody positivity", "definition": "The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B). []"} {"concept_id": "C5558394", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating GABA concentration", "definition": "Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation. []"} {"concept_id": "C5558395", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating sacchoropine concentration", "definition": "An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine. [PMID:571908]"} {"concept_id": "C5558396", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal urinary non-proteinogenic amino acid level", "definition": "Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. []"} {"concept_id": "C5558397", "aliases": [], "types": ["T033"], "canonical_name": "Hepatic foam cells", "definition": "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver. []"} {"concept_id": "C5558398", "aliases": ["COVID finger", "COVID fingers"], "types": ["T033"], "canonical_name": "Pseudo-chilblains on fingers", "definition": "Inflammatory chilblain-like nodules on the hands and/or fingers. [ORCID:0000-0002-9578-0788, PMID:33972057]"} {"concept_id": "C5558399", "aliases": [], "types": ["T033"], "canonical_name": "Silent hypoxemia", "definition": "Abnormally low blood oxygen level without the presence of dyspnea. [ORCID:0000-0002-9578-0788, PMID:32539537]"} {"concept_id": "C5558400", "aliases": ["Complete tracheal ring deformity", "Complete tracheal rings", "CTRD"], "types": ["T190"], "canonical_name": "Complete tracheal ring", "definition": "Continuous or nearly continuous configuration of the cartilaginous tracheal ring. [PMID:31215789]"} {"concept_id": "C5558401", "aliases": [], "types": ["T033"], "canonical_name": "Pancreatic alpha-cell hyperplasia", "definition": "A diffuse and specific increase in the number of alpha-cells. [PMID:24285676]"} {"concept_id": "C5558402", "aliases": ["Fused third and fourth metacarpals", "Synostosis of third and the fourth metacarpal bones", "Middle and ring finger metacarpal synostosis"], "types": ["T190"], "canonical_name": "3-4 metacarpal synostosis", "definition": "A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers). [HPO:probinson, PMID:27698627]"} {"concept_id": "C5558403", "aliases": [], "types": ["T034"], "canonical_name": "Anti-AK5 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5). [PMID:28062719, PMID:33843981]"} {"concept_id": "C5558404", "aliases": ["Anti-contactin-associated protein-like 2 antibody", "Anti-Caspr2 antibody"], "types": ["T034"], "canonical_name": "Anti-CASPR2", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2). [PMID:29561731, PMID:32651251, PMID:32783406]"} {"concept_id": "C5558405", "aliases": ["Anti-dipeptidyl-peptidase-like protein 6 antibody"], "types": ["T034"], "canonical_name": "Anti-DPPX antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX). [PMID:27299786, PMID:28258082, PMID:32087460]"} {"concept_id": "C5558406", "aliases": ["Anti-fibroblast growth factor receptor 3 antibody"], "types": ["T034"], "canonical_name": "Anti-FGFR3 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3. [PMID:33563795, PMID:33588772]"} {"concept_id": "C5558407", "aliases": ["Anti-GABAA R antibody", "Anti-gamma amino butyric acid type A receptors antibody"], "types": ["T034"], "canonical_name": "Anti-GABA(A)R antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R. [PMID:28202703, PMID:30347219]"} {"concept_id": "C5558408", "aliases": ["Anti-gamma-aminobutyric acid B receptor antibody"], "types": ["T034"], "canonical_name": "Anti-GABA(B)R antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R. [PMID:32103919, PMID:32710704, PMID:32783406]"} {"concept_id": "C5558409", "aliases": ["Anti-glutamic acid decarboxylase 65 antibody"], "types": ["T034"], "canonical_name": "Anti-GAD65 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65). [PMID:30343467, PMID:32087461, PMID:32123047]"} {"concept_id": "C5558410", "aliases": [], "types": ["T034"], "canonical_name": "Anti-Gephyrin antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin. [PMID:20420178, PMID:22270318, PMID:29561731]"} {"concept_id": "C5558411", "aliases": ["Anti-glycine receptor antibody"], "types": ["T034"], "canonical_name": "Anti-GlyR antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR). [PMID:21242500, PMID:22215239, PMID:32087460, PMID:32585946]"} {"concept_id": "C5558412", "aliases": ["Anti-Homer protein homolog 3 antibody"], "types": ["T034"], "canonical_name": "Anti-Homer-3 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3. [PMID:26377085]"} {"concept_id": "C5558413", "aliases": ["Anti-immunoglobulin-like cell adhesion molecule 5 antibody"], "types": ["T034"], "canonical_name": "Anti-Iglon5 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5). [PMID:27299786, PMID:28381508, PMID:30694925]"} {"concept_id": "C5558414", "aliases": ["Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody"], "types": ["T034"], "canonical_name": "Anti-ITPR1 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1). [PMID:28203616]"} {"concept_id": "C5558415", "aliases": ["Anti-KLHL11 antibody"], "types": ["T034"], "canonical_name": "Anti-Kelch like protein 11 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11). [PMID:31269365]"} {"concept_id": "C5558416", "aliases": ["Anti-Anti-leucine-rich glioma-inactivated 1 antibody"], "types": ["T034"], "canonical_name": "Anti-LGI1 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1). [PMID:32710704, PMID:32783406]"} {"concept_id": "C5558419", "aliases": ["Anti-metabotropic glutamate receptor 1 antibody"], "types": ["T034"], "canonical_name": "Anti-mGluR1 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1). [PMID:26377085]"} {"concept_id": "C5558420", "aliases": ["Anti-Metabotropic Glutamate Receptor Type 5 antibody"], "types": ["T034"], "canonical_name": "Anti-mGluR5 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5). [PMID:29703767]"} {"concept_id": "C5558421", "aliases": ["Anti-neurexin-3alpha antibody"], "types": ["T034"], "canonical_name": "Anti-neurexin-3alpha antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha. [PMID:27170572, PMID:27170573, PMID:28840178]"} {"concept_id": "C5558422", "aliases": ["Anti-P/Q-type voltage-gated calcium-channel antibody"], "types": ["T034"], "canonical_name": "Anti-P/Q-type VGCC antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs). [PMID:18295972, PMID:18653248, PMID:21115345]"} {"concept_id": "C5558423", "aliases": ["Anti-Purkinje cell cytoplasmic type-2 antibody", "Anti-microtubule-associated protein 1B antibody"], "types": ["T034"], "canonical_name": "Anti-MAP1B antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B). [PMID:28074593, PMID:31801846]"} {"concept_id": "C5558424", "aliases": ["Anti-Protein kinase C gamma antibody"], "types": ["T034"], "canonical_name": "Anti-PKCgamma antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma. [PMID:16801349]"} {"concept_id": "C5558425", "aliases": [], "types": ["T034"], "canonical_name": "Anti-Septin-5 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5. [PMID:29998156]"} {"concept_id": "C5558426", "aliases": [], "types": ["T034"], "canonical_name": "Anti-SEZ6L2 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2). [PMID:33144342]"} {"concept_id": "C5558427", "aliases": ["Anti-Sry-like high mobility group box (SOX) 1 antibody"], "types": ["T034"], "canonical_name": "Anti-SOX1 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells. [PMID:19667272, PMID:32103919]"} {"concept_id": "C5558428", "aliases": [], "types": ["T034"], "canonical_name": "Anti-TRIM46 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46). [PMID:28904989]"} {"concept_id": "C5558429", "aliases": [], "types": ["T034"], "canonical_name": "Anti-TRIM9/TRIM67 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67. [PMID:30350014]"} {"concept_id": "C5558431", "aliases": ["Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody"], "types": ["T034"], "canonical_name": "Anti-Sj/ITPR1 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor. [PMID:23568983, PMID:26377085]"} {"concept_id": "C5558432", "aliases": ["Anti-dopamine-2 receptors (D2R) antibody"], "types": ["T034"], "canonical_name": "Anti-D2 R antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor. [PMID:27299786, PMID:32612568]"} {"concept_id": "C5558433", "aliases": ["Anti-low-density lipoprotein receptor-related protein 4 antibody"], "types": ["T034"], "canonical_name": "Anti-Lrp4 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4). [PMID:32830177]"} {"concept_id": "C5558434", "aliases": [], "types": ["T034"], "canonical_name": "Anti-Kv1.4 antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4. [PMID:22167224, PMID:30918333]"} {"concept_id": "C5558435", "aliases": [], "types": ["T033"], "canonical_name": "Differential cyanosis", "definition": "Differential degree of bluish discoloration between the upper and lower extremities. [ORCID:0000-0002-9578-0788, PMID:32644593]"} {"concept_id": "C5558436", "aliases": [], "types": ["T033"], "canonical_name": "Dorsal hirsutism", "definition": "Abnormally increased hair growth in the lskin of the back. []"} {"concept_id": "C5563366", "aliases": ["Trident sign"], "types": ["T019"], "canonical_name": "Trident pelvis", "definition": "Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident. [PMID:28744080]"} {"concept_id": "C5563603", "aliases": [], "types": ["T019"], "canonical_name": "Median pseudocleft lip", "definition": "A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline. [PMID:25535458]"} {"concept_id": "C5574650", "aliases": [], "types": ["T047"], "definition": "Manifest deviation of the visual axes not controlled by fusion. [UManchester:psergouniotis]", "canonical_name": "Heterotropia"} {"concept_id": "C5574662", "aliases": ["High blood ammonia levels"], "types": ["T034"], "definition": "A laboratory test result demonstrating an increased concentration of ammonia in the blood.", "canonical_name": "Hyperammonemia"} {"concept_id": "C5574666", "aliases": [], "types": ["T047"], "definition": "Nystagmus made apparent by looking to the right or to the left. [HPO:curators]", "canonical_name": "Gaze-evoked nystagmus"} {"concept_id": "C5574682", "aliases": ["Enlarged cornea", "Anterior megalophthalmos", "Macrocornea"], "types": ["T019"], "definition": "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. [HPO:curators]", "canonical_name": "Megalocornea"} {"concept_id": "C5574706", "aliases": ["Bowed legs", "Bowed lower limbs", "Bow-leggedness", "Bowing of the legs"], "types": ["T033"], "definition": "A bending or abnormal curvature affecting a long bone of the leg. [HPO:probinson]", "canonical_name": "Bow legs"} {"concept_id": "C5574742", "aliases": ["Decreased weight"], "types": ["T033"], "definition": "Abnormally low body weight. []", "canonical_name": "Decreased body weight"} {"concept_id": "C5574816", "aliases": ["Discoid lupus erythematosus"], "types": ["T047"], "definition": "chronic form of cutaneous lupus erythematosus in which the skin lesions mimic those of the systemic form but in which systemic signs are rare; characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy; lesions are surrounded by an elevated erythematous border; the condition typically involves the face and scalp, but widespread dissemination may occur.", "canonical_name": "Discoid lupus rash"} {"concept_id": "C5574857", "aliases": ["Anti-Purkinje cell cytoplasmic antibody 1"], "types": ["T034"], "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo. [PMID:10980743, PMID:27606347]", "canonical_name": "Anti-Yo antibody positivity"} {"concept_id": "C5574944", "aliases": [], "types": ["T033"], "canonical_name": "Renal magnesium wasting", "definition": "High urine magnesium in the presence of hypomagnesemia. [Eurenomics:ewuehl]"} {"concept_id": "C5574949", "aliases": ["Cone-shaped phalangeal epiphyses", "Phalangeal cone-shaped epiphyses"], "types": ["T033"], "definition": "Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. [PMID:22503633]", "canonical_name": "Cone-shaped epiphyses of phalanges"} {"concept_id": "C5574955", "aliases": ["Congenital, generalised hypertrichosis", "Congenital generalized hypertrichosis", "Congenital generalised hypertrichosis", "Congenital, generalized hypertrichosis"], "types": ["T047"], "definition": "A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. [HPO:probinson]", "canonical_name": "Hypertrichosis universalis"} {"concept_id": "C5574956", "aliases": ["Supernumerary spleens"], "types": ["T190"], "definition": "The presence of two or more accessory spleens. [HPO:curators]", "canonical_name": "Extra spleen"} {"concept_id": "C5575016", "aliases": ["Anti-IA2A", "ICA512", "Anti-IA2 antibody positivity"], "types": ["T033"], "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2. [ORCID:0000-0002-3387-1836, PMID:9693976]", "canonical_name": "Anti-islet antigen-2 antibody positivity"} {"concept_id": "C5575038", "aliases": ["Type I airway casts", "Fibrin casts", "Cellular airway casts", "Diphtheroid membranes"], "types": ["T031"], "definition": "A type of airway casts that consist of plasma components and inflammatory cells. [LMU:mgriese]", "canonical_name": "Pseudomembranes"} {"concept_id": "C5671118", "aliases": ["IAA positivity", "Insulin autoantibodies"], "types": ["T033"], "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against insulin. [ORCID:0000-0002-3387-1836, PMID:17143785]", "canonical_name": "Anti-insulin antibody positivity"} {"concept_id": "C5676592", "aliases": [], "types": ["T033"], "canonical_name": "Impaired pulmonary function"} {"concept_id": "C5676593", "aliases": [], "types": ["T048"], "canonical_name": "Speech dyspraxia"} {"concept_id": "C5676595", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal umbilical artery doppler waveform during pregnancy", "definition": "Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester. [PMID:12768548]"} {"concept_id": "C5676596", "aliases": [], "types": ["T033"], "canonical_name": "Decreased CSF homovanillic acid concentration", "definition": "Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. [KI:phemming, PMID:12615172]"} {"concept_id": "C5676597", "aliases": [], "types": ["T019"], "canonical_name": "Tracheal cartilaginous sleeve", "definition": "Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes. [PMID:25375853]"} {"concept_id": "C5676598", "aliases": [], "types": ["T019"], "canonical_name": "Abnormal antitragus morphology", "definition": "An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. [HPO:probinson]"} {"concept_id": "C5676599", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of urine catecholamine level", "definition": "An abnormal amount of urinary catecholamine concentration. [HPO:probinson]"} {"concept_id": "C5676600", "aliases": [], "types": ["T033"], "canonical_name": "Abnormality of urinary uric acid level", "definition": "Abnormal amount of urate in the urine. [HPO:probinson]"} {"concept_id": "C5676601", "aliases": [], "types": ["T046"], "canonical_name": "Abnormal placental adhesion into the uterine wall", "definition": "Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta. [PMID:30210239]"} {"concept_id": "C5676602", "aliases": [], "types": ["T019"], "canonical_name": "Prenatal double bubble sign", "definition": "Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign. [PMID:31167209]"} {"concept_id": "C5676603", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal umbilical blood flow measurement"} {"concept_id": "C5676604", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating creatine kinase concentration", "definition": "A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. [PMID:20460152, PMID:31536231]"} {"concept_id": "C5676605", "aliases": [], "types": ["T019"], "canonical_name": "Abnormal fetal skeletal morphology", "definition": "An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes. []"} {"concept_id": "C5676606", "aliases": [], "types": ["T033"], "canonical_name": "Reduced fetal femur/foot length ratio", "definition": "This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors. [PMID:2406168, PMID:3292975]"} {"concept_id": "C5676607", "aliases": [], "types": ["T033"], "canonical_name": "Extremely preterm birth", "definition": "Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation). [ORCID:0000-0002-6670-9157]"} {"concept_id": "C5676608", "aliases": [], "types": ["T019"], "canonical_name": "Fetal neck anomaly", "definition": "A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []"} {"concept_id": "C5676609", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal neck morphology", "definition": "Any structural anomaly of the neck region. []"} {"concept_id": "C5676610", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal neck physiology", "definition": "Any functional anomaly of the neck region. []"} {"concept_id": "C5676611", "aliases": [], "types": ["T046"], "canonical_name": "Fetal skin edema", "definition": "A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue. [PMID:23696062]"} {"concept_id": "C5676612", "aliases": ["Septated ascites"], "types": ["T047"], "canonical_name": "Loculated ascites", "definition": "A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection. [PMID:14981382, PMID:28567101]"} {"concept_id": "C5676613", "aliases": [], "types": ["T019"], "canonical_name": "Meconium pseudocyst", "definition": "A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst. [PMID:19293041]"} {"concept_id": "C5676614", "aliases": [], "types": ["T046"], "canonical_name": "Fetal chylothorax", "definition": "The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus. [PMID:10472400, PMID:28351595]"} {"concept_id": "C5676615", "aliases": [], "types": ["T046"], "canonical_name": "Fetal hydrothorax", "definition": "Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed. [PMID:25721226]"} {"concept_id": "C5676616", "aliases": ["CMAP facilitation"], "types": ["T033"], "canonical_name": "Compound muscle action potential amplitude facilitation", "definition": "Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction. [PMID:25192047]"} {"concept_id": "C5676617", "aliases": [], "types": ["T033"], "canonical_name": "Distal clavicular thinning", "definition": "Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region. []"} {"concept_id": "C5676618", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal amyloid beta 42 peptide CSF concentration", "definition": "Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form. [ORCID:0000-0003-2307-1226, PMID:27025652]"} {"concept_id": "C5676619", "aliases": [], "types": ["T033"], "canonical_name": "Decreased amyloid beta 42 peptide CSF concentration", "definition": "A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). [ORCID:0000-0003-2307-1226, PMID:15992827, PMID:31391004]"} {"concept_id": "C5676620", "aliases": [], "types": ["T033"], "canonical_name": "Increased amyloid beta 42 peptide CSF concentration", "definition": "An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). [ORCID:0000-0003-2307-1226]"} {"concept_id": "C5676621", "aliases": ["Abnormal Abeta 40 level", "Abnormal beta amyloid 40 level"], "types": ["T033"], "canonical_name": "Abnormal amyloid beta 40 peptide CSF concentration", "definition": "Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form. [ORCID:0000-0003-2307-1226, PMID:29420472]"} {"concept_id": "C5676622", "aliases": [], "types": ["T033"], "canonical_name": "Increased amyloid beta 40 peptide CSF concentration", "definition": "An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF). [ORCID:0000-0003-2307-1226, PMID:19273758]"} {"concept_id": "C5676623", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal amyloid beta peptide CSF concentration", "definition": "Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid. [ORCID:0000-0003-2307-1226, PMID:31391004]"} {"concept_id": "C5676624", "aliases": [], "types": ["T019"], "canonical_name": "Extra-abdominal umbilical vein varix", "definition": "Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth. [PMID:33099808]"} {"concept_id": "C5676625", "aliases": ["FIUVV", "Fetal umbilical vein dilatation"], "types": ["T019"], "canonical_name": "Fetal intra-abdominal umbilical vein varix", "definition": "Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age. [PMID:24883288, PMID:28876490]"} {"concept_id": "C5676626", "aliases": [], "types": ["T031"], "canonical_name": "Airway casts", "definition": "A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts. [LMU:mgriese, PMID:34713989]"} {"concept_id": "C5676627", "aliases": ["Acellular airway casts", "Type II airway casts"], "types": ["T031"], "canonical_name": "Mucin casts", "definition": "A type of airway casts that consist of impacted mucus. [LMU:mgriese]"} {"concept_id": "C5676628", "aliases": ["Perisylvian hypermetabolism in FDG PET"], "types": ["T033"], "canonical_name": "Perisylvian FDG hypermetabolism", "definition": "18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure. [PMID:33452041]"} {"concept_id": "C5676629", "aliases": [], "types": ["T019"], "canonical_name": "Distended jugular lymphatic sacs", "definition": "The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency. [ORCID:0000-0002-7653-4653, PMID:19248150, PMID:20227670, PMID:23718767]"} {"concept_id": "C5676630", "aliases": ["Trans-mantle schizencephaly"], "types": ["T019"], "canonical_name": "Type 1 schizencephaly", "definition": "A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging. [PMID:30027296, PMID:3111205]"} {"concept_id": "C5676631", "aliases": [], "types": ["T019"], "canonical_name": "Type 2 schizencephaly", "definition": "A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other. [PMID:30027296]"} {"concept_id": "C5676632", "aliases": [], "types": ["T019"], "canonical_name": "Type 3 schizencephaly", "definition": "A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter. [PMID:30027296]"} {"concept_id": "C5676633", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal fetal nasal bone visualization", "definition": "Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age. [PMID:16813740]"} {"concept_id": "C5676634", "aliases": [], "types": ["T019"], "canonical_name": "Hypoplastic nasal bone", "definition": "Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques. []"} {"concept_id": "C5676635", "aliases": [], "types": ["T033"], "canonical_name": "Early young adult onset", "definition": "Onset of disease at an age of greater than or equal to 16 to under 19 years. []"} {"concept_id": "C5676636", "aliases": [], "types": ["T033"], "canonical_name": "Intermediate young adult onset", "definition": "Onset of disease at an age of greater than or equal to 19 to under 25 years. []"} {"concept_id": "C5676637", "aliases": [], "types": ["T033"], "canonical_name": "Late young adult onset", "definition": "Onset of disease at an age of greater than or equal to 25 to under 40 years. []"} {"concept_id": "C5676638", "aliases": [], "types": ["T046"], "canonical_name": "Spontaneous chorioamniotic separation", "definition": "Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis). [PMID:27683622]"} {"concept_id": "C5676639", "aliases": [], "types": ["T047"], "canonical_name": "Cerebral cortical microinfarct", "definition": "An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions. [ORCID:0000-0003-2307-1226, PMID:10867785]"} {"concept_id": "C5676640", "aliases": ["Autophagic material in muscle biopsy"], "types": ["T033"], "canonical_name": "Skeletal muscle autophagosome accumulation", "definition": "Abnormal accumulation of autophagosomes in skeletal muscle tissue. [PMID:20040311]"} {"concept_id": "C5676641", "aliases": ["Hyperechoic muscle", "Muscle ultrasound hyperechogenicity"], "types": ["T033"], "canonical_name": "Skeletal muscle hyperechogenicity", "definition": "An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation. [PMID:32989482]"} {"concept_id": "C5676642", "aliases": [], "types": ["T046"], "canonical_name": "Maternal vascular malperfusion", "definition": "Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities. [PMID:30129127]"} {"concept_id": "C5676643", "aliases": [], "types": ["T033"], "canonical_name": "Limited horizontal extraocular movement", "definition": "Limited mobility of the eye to move from side to side (horizontally) within its socket. [ORCID:0000-0002-3302-4610]"} {"concept_id": "C5676644", "aliases": [], "types": ["T033"], "canonical_name": "Limited vertical extraocular movement", "definition": "Limited mobility of the eye to move up and down (vertically) within its socket. [ORCID:0000-0002-3302-4610]"} {"concept_id": "C5676645", "aliases": [], "types": ["T019"], "canonical_name": "Abnormal fetal skin morphology", "definition": "Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []"} {"concept_id": "C5676646", "aliases": ["Greasy, thick vernix caseosa-like scale"], "types": ["T033"], "canonical_name": "Caseous vernix-like desquamation", "definition": "Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth. [PMID:21856041]"} {"concept_id": "C5676647", "aliases": [], "types": ["T190"], "canonical_name": "Periventricular pseudocyst", "definition": "Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns. [PMID:12423480, PMID:32277778]"} {"concept_id": "C5676648", "aliases": [], "types": ["T033"], "canonical_name": "Decreased serum bile acid concentration", "definition": "A reduction in the concentration of bile acid in the blood. []"} {"concept_id": "C5676649", "aliases": ["Decreased circulating chenodiol concentration"], "types": ["T033"], "canonical_name": "Decreased circulating chenodeoxycholic acid concentration", "definition": "A reduced concentration of chenodeoxycholic acid in the blood circulation. []"} {"concept_id": "C5676650", "aliases": [], "types": ["T033"], "canonical_name": "Elevated urinary prostaglandin E2 metabolite level", "definition": "An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine. [PMID:28700713]"} {"concept_id": "C5676651", "aliases": [], "types": ["T190"], "canonical_name": "Hypoplastic anterior limbs of the internal capsule", "definition": "Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule. [PMID:32395406]"} {"concept_id": "C5676652", "aliases": [], "types": ["T033"], "canonical_name": "Impaired toe-walking ability", "definition": "Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes. []"} {"concept_id": "C5676653", "aliases": [], "types": ["T033"], "canonical_name": "Decreased acid ceramidase activity"} {"concept_id": "C5676654", "aliases": [], "types": ["T033"], "canonical_name": "Probst bundles", "definition": "Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles. [PMID:17898206, PMID:33642486]"} {"concept_id": "C5676655", "aliases": ["Anti-P450scc"], "types": ["T033"], "canonical_name": "Anti-side-chain cleavage enzyme antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583). [ORCID:0000-0002-3387-1836, PMID:9030872]"} {"concept_id": "C5676656", "aliases": [], "types": ["T033"], "canonical_name": "Increased fecal calprotectin level", "definition": "An increased amount of calprotectin in the feces. []"} {"concept_id": "C5676657", "aliases": ["Structural fetal anomaly"], "types": ["T019"], "canonical_name": "Abnormal fetal morphology", "definition": "Any structural anomaly of the fetus. []"} {"concept_id": "C5676658", "aliases": ["Functional fetal anomaly"], "types": ["T033"], "canonical_name": "Abnormal fetal physiology", "definition": "Any functional anomaly of the fetus. []"} {"concept_id": "C5676659", "aliases": [], "types": ["T080"], "canonical_name": "Triggered by fava bean ingestion", "definition": "Applies to a sign or symptom that is provoked or brought about by eating fava beans. [PMID:29298156]"} {"concept_id": "C5676660", "aliases": ["Anti-P450C17"], "types": ["T033"], "canonical_name": "Anti-steroid 17alpha-hydroxylase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase. [ORCID:0000-0002-3387-1836, PMID:9030872]"} {"concept_id": "C5676661", "aliases": ["Anti-SP1 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-salivary protein antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein. [ORCID:0000-0002-3387-1836, PMID:34249010]"} {"concept_id": "C5676662", "aliases": ["Anti ZnT8 autoantibodies"], "types": ["T033"], "canonical_name": "Anti-Zinc transporter 8 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8. [ORCID:0000-0002-3387-1836, PMID:32946793]"} {"concept_id": "C5676663", "aliases": ["Anti-CA6 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-carbonic anhydrase VI antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI. [ORCID:0000-0002-3387-1836, PMID:34249010]"} {"concept_id": "C5676664", "aliases": ["Clumping of the keratin tonofilaments"], "types": ["T033"], "canonical_name": "Tonofilament clumping", "definition": "Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes. [PMID:18461349, PMID:7529919]"} {"concept_id": "C5676665", "aliases": ["Anti-PBP antibody positivity"], "types": ["T033"], "canonical_name": "Anti-plasminogen binding peptide antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide. [ORCID:0000-0002-3387-1836, PMID:30075546]"} {"concept_id": "C5676666", "aliases": ["Anti-PSP antibody positivity"], "types": ["T033"], "canonical_name": "Anti-parotid secretory protein antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein. [ORCID:0000-0002-3387-1836, PMID:34249010]"} {"concept_id": "C5676667", "aliases": ["AEA"], "types": ["T033"], "canonical_name": "Anti-enterocyte antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes. [ORCID:0000-0002-3387-1836, PMID:24051695, PMID:33744411]"} {"concept_id": "C5676668", "aliases": ["Anti-P450c21"], "types": ["T033"], "canonical_name": "Anti-21-hydroxylase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase. [ORCID:0000-0002-3387-1836, PMID:22707647, PMID:9030872]"} {"concept_id": "C5676669", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal fetal long-bone echogenicity", "definition": "Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging. [PMID:21472065]"} {"concept_id": "C5676670", "aliases": [], "types": ["T033"], "canonical_name": "Reduced fetal long bone echogenicity", "definition": "An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis. []"} {"concept_id": "C5676671", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating apolipoprotein B concentration", "definition": "Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100. [PMID:16333315]"} {"concept_id": "C5676672", "aliases": [], "types": ["T033"], "canonical_name": "Anti-ribosome Po antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po. [ORCID:0000-0002-3387-1836, PMID:14645862, PMID:25815344]"} {"concept_id": "C5676673", "aliases": ["Anti-C1q antibody positivity"], "types": ["T033"], "canonical_name": "Anti-complement component C1q antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q. [ORCID:0000-0002-3387-1836, PMID:25815344]"} {"concept_id": "C5676674", "aliases": ["Anti-CENP-A antibody positivity"], "types": ["T033"], "canonical_name": "Anti-centromere protein A antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A. [ORCID:0000-0002-3387-1836, PMID:30316987]"} {"concept_id": "C5676675", "aliases": ["Anti-CENP-B antibody positivity"], "types": ["T033"], "canonical_name": "Anti-centromere protein B antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B. [ORCID:0000-0002-3387-1836, PMID:30316987]"} {"concept_id": "C5676676", "aliases": ["Anti-fibrillarin antibody positivity"], "types": ["T033"], "canonical_name": "Anti-U3 RNP antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP. [ORCID:0000-0002-3387-1836, PMID:34207757]"} {"concept_id": "C5676677", "aliases": [], "types": ["T033"], "canonical_name": "Anti-Th/To antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To. [ORCID:0000-0002-3387-1836, PMID:30316987]"} {"concept_id": "C5676678", "aliases": ["Anti-BICD2 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-bicaudal D2 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2. [ORCID:0000-0002-3387-1836, PMID:29369808]"} {"concept_id": "C5676679", "aliases": ["Anti-Nor90 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-nucleolus-organizing region antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90. [ORCID:0000-0002-3387-1836, PMID:28749191]"} {"concept_id": "C5676680", "aliases": [], "types": ["T033"], "canonical_name": "Anti-phosphatidyl ethanolamine antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine. [ORCID:0000-0002-3387-1836, PMID:22796282]"} {"concept_id": "C5676681", "aliases": [], "types": ["T034"], "canonical_name": "Anti-PM-Scl100 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100. [ORCID:0000-0002-3387-1836, PMID:28749191]"} {"concept_id": "C5676682", "aliases": [], "types": ["T034"], "canonical_name": "Anti-PM-Scl75 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75. [ORCID:0000-0002-3387-1836, PMID:28749191]"} {"concept_id": "C5676683", "aliases": [], "types": ["T033"], "canonical_name": "Anti-U11/U12 RNP antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP. [ORCID:0000-0002-3387-1836, PMID:19565553]"} {"concept_id": "C5676684", "aliases": [], "types": ["T033"], "canonical_name": "Anti-Ku antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku. [ORCID:0000-0002-3387-1836, PMID:28749191]"} {"concept_id": "C5676685", "aliases": [], "types": ["T033"], "canonical_name": "Anti-B23 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23. [ORCID:0000-0002-3387-1836, PMID:30316987]"} {"concept_id": "C5676686", "aliases": [], "types": ["T033"], "canonical_name": "Anti-RuvBL1/2 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2. [ORCID:0000-0002-3387-1836, PMID:30316987]"} {"concept_id": "C5676687", "aliases": ["Anti-PDGFR antibody positivity"], "types": ["T033"], "canonical_name": "Anti-platelet derived growth factor receptor", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor. [ORCID:0000-0002-3387-1836, PMID:28749191]"} {"concept_id": "C5676688", "aliases": ["Anti-CCP antibody positivity"], "types": ["T033"], "canonical_name": "Anti-cyclic citrullinated peptide antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide. [ORCID:0000-0002-3387-1836, PMID:30316987]"} {"concept_id": "C5676689", "aliases": ["Anti-Ro52 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-Ro52/TRIM21 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21. [ORCID:0000-0002-3387-1836, PMID:28749191]"} {"concept_id": "C5676690", "aliases": ["Anti-AT1R antibody positivity"], "types": ["T033"], "canonical_name": "Anti-angiotensin receptor type-1 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1. [ORCID:0000-0002-3387-1836, PMID:28749191]"} {"concept_id": "C5676691", "aliases": ["Anti-ETAR antibody positivity"], "types": ["T033"], "canonical_name": "Anti-endothelin-1 type A receptor antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor. [ORCID:0000-0002-3387-1836, PMID:28749191]"} {"concept_id": "C5676692", "aliases": [], "types": ["T033"], "canonical_name": "Anti-phosphatidic acid antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid. [ORCID:0000-0002-3387-1836, PMID:30868842]"} {"concept_id": "C5676693", "aliases": [], "types": ["T033"], "canonical_name": "Anti-phosphatidyl choline antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline. [ORCID:0000-0002-3387-1836, PMID:31354742]"} {"concept_id": "C5676694", "aliases": [], "types": ["T033"], "canonical_name": "Anti-phosphatidyl glycerol antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol. [ORCID:0000-0002-3387-1836, PMID:26563139]"} {"concept_id": "C5676695", "aliases": [], "types": ["T033"], "canonical_name": "Anti-phosphatidyl inositol antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol. [ORCID:0000-0002-3387-1836, PMID:31354742]"} {"concept_id": "C5676696", "aliases": [], "types": ["T033"], "canonical_name": "Anti-phosphatidyl serine antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine. [ORCID:0000-0002-3387-1836, PMID:26563139]"} {"concept_id": "C5676697", "aliases": [], "types": ["T033"], "canonical_name": "Anti-annexin-V antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V. [ORCID:0000-0002-3387-1836, PMID:33464429]"} {"concept_id": "C5676698", "aliases": [], "types": ["T033"], "canonical_name": "Anti-sphingolipid antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids. [ORCID:0000-0002-3387-1836, PMID:31354742]"} {"concept_id": "C5676699", "aliases": ["Anti-ganglioside-monosialic acid antibody positivity"], "types": ["T034"], "canonical_name": "Anti-GM1 antibody positivity", "definition": "Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury [ORCID:0000-0002-3387-1836, PMID:32460711]"} {"concept_id": "C5676700", "aliases": [], "types": ["T033"], "canonical_name": "Anti-neutrophil elastase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase. [ORCID:0000-0002-3387-1836, PMID:32091008]"} {"concept_id": "C5676701", "aliases": ["Anti-TIF1-gamma antibody positivity", "Anti-TIF-1gamma antibody positivity"], "types": ["T033"], "canonical_name": "Anti-transcription intermediary factor-1gamma antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma. [ORCID:0000-0002-3387-1836, PMID:33876712]"} {"concept_id": "C5676702", "aliases": ["Anti-Ago2 antibody positivity", "Anti-Su antibody positivity"], "types": ["T033"], "canonical_name": "Anti-Su antigen/argonaute 2 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2. [ORCID:0000-0002-3387-1836, PMID:33876712]"} {"concept_id": "C5676703", "aliases": [], "types": ["T033"], "canonical_name": "Anti-p53 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53. [ORCID:0000-0002-3387-1836, PMID:29554146]"} {"concept_id": "C5676704", "aliases": ["Anti-YB 1 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-Y-box protein-1 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1. [ORCID:0000-0002-3387-1836, PMID:29554146]"} {"concept_id": "C5676705", "aliases": [], "types": ["T033"], "canonical_name": "Anti-GW182 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182. [ORCID:0000-0002-3387-1836, PMID:14598044, PMID:29554146]"} {"concept_id": "C5676706", "aliases": ["Anti-Ge-1 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-Gerbich phenotype 1 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1. [ORCID:0000-0002-3387-1836, PMID:29554146]"} {"concept_id": "C5676707", "aliases": [], "types": ["T033"], "canonical_name": "Anti-MIT3 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3. [ORCID:0000-0002-3387-1836, PMID:29554146, PMID:32286240]"} {"concept_id": "C5676708", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GM1 IgG antibody positivity", "definition": "The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1. [ORCID:0000-0002-3387-1836, PMID:32460711]"} {"concept_id": "C5676709", "aliases": ["Anti-LKM1 antibody positivity", "Anti-liver kidney microsomal type 1 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-type I liver-kidney microsomal antibody positivity", "definition": "The presence of type I liver-kidney microsomal autoantibodies (immunoglobulins) in the blood circulation. [ORCID:0000-0002-3387-1836, PMID:29554146]"} {"concept_id": "C5676710", "aliases": ["Anti-HK-1 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-hexokinase-1 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1. [ORCID:0000-0002-3387-1836, PMID:29554146]"} {"concept_id": "C5676711", "aliases": ["Anti-KLHL-12 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-Kelch like protein 12 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12. [ORCID:0000-0002-3387-1836, PMID:29554146]"} {"concept_id": "C5676712", "aliases": [], "types": ["T033"], "canonical_name": "Anti-thyrotropin receptor antibody", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thyrotropin receptor antibody. [ORCID:0000-0002-3387-1836, PMID:32459722]"} {"concept_id": "C5676713", "aliases": ["Anti-ACE2 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-angiotensin-converting enzyme 2 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2. [ORCID:0000-0002-3387-1836, PMID:33910447]"} {"concept_id": "C5676714", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GM1 IgM antibody positivity", "definition": "The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1. [ORCID:0000-0002-3387-1836, PMID:34759020]"} {"concept_id": "C5676715", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GD1a IgG antibody positivity", "definition": "The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. [ORCID:0000-0002-3387-1836, PMID:24829594]"} {"concept_id": "C5676716", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GD1a IgM antibody positivity", "definition": "The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. [ORCID:0000-0002-3387-1836, PMID:31522790]"} {"concept_id": "C5676717", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GD1a antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. []"} {"concept_id": "C5676718", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GQ1b antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. []"} {"concept_id": "C5676719", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GQ1b IgM antibody positivity", "definition": "The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. [ORCID:0000-0002-3387-1836, PMID:24829594]"} {"concept_id": "C5676720", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GD1b antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. [ORCID:0000-0002-3387-1836, PMID:31837178]"} {"concept_id": "C5676721", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GD1b IgM antibody positivity", "definition": "The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. [ORCID:0000-0002-3387-1836, PMID:31837178]"} {"concept_id": "C5676722", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GD1b IgG antibody positivity", "definition": "The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. [ORCID:0000-0002-3387-1836, PMID:31837178]"} {"concept_id": "C5676723", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GQ1b IgG antibody positivity", "definition": "The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. [ORCID:0000-0002-3387-1836, PMID:24829594]"} {"concept_id": "C5676724", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GT1a antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. []"} {"concept_id": "C5676725", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GT1a IgM antibody positivity", "definition": "The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. [ORCID:0000-0002-3387-1836, PMID:24829594]"} {"concept_id": "C5676726", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GT1a IgG antibody positivity", "definition": "The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. [ORCID:0000-0002-3387-1836, PMID:24829594]"} {"concept_id": "C5676727", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GT1b antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside. [ORCID:0000-0002-3387-1836, PMID:17785314]"} {"concept_id": "C5676728", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GM2 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2. [ORCID:0000-0002-3387-1836, PMID:31522790]"} {"concept_id": "C5676729", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GM3 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3. [ORCID:0000-0002-3387-1836, PMID:34174799]"} {"concept_id": "C5676730", "aliases": [], "types": ["T034"], "canonical_name": "Anti-GM4 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4. [ORCID:0000-0002-3387-1836, PMID:17785314]"} {"concept_id": "C5676731", "aliases": ["Anti-NF155 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-neurofascin-155 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155. [ORCID:0000-0002-3387-1836, PMID:32266541, PMID:34728497]"} {"concept_id": "C5676732", "aliases": ["Anti-NF186 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-neurofascin 186 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186. [ORCID:0000-0002-3387-1836, PMID:32266541, PMID:33723708]"} {"concept_id": "C5676733", "aliases": ["Anti-CNTN1 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-contactin-1 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1. [ORCID:0000-0002-3387-1836, PMID:32266541, PMID:34675937]"} {"concept_id": "C5676734", "aliases": ["Anti-CASPR1 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-contactin-associated protein 1 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1. [ORCID:0000-0002-3387-1836, PMID:32266541]"} {"concept_id": "C5676735", "aliases": ["Anti-small ubiquitin-like modifier-1 activating enzyme antibody positivity", "Anti-SAE antibody positivity"], "types": ["T033"], "canonical_name": "Anti-SUMO-activating enzyme antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE. [ORCID:0000-0002-3387-1836, PMID:33343724]"} {"concept_id": "C5676736", "aliases": [], "types": ["T033"], "canonical_name": "Anti-SUMO-activating enzyme subunit 1 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1. [ORCID:0000-0002-3387-1836, PMID:22884621]"} {"concept_id": "C5676737", "aliases": ["Anti-SAE 2 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-SUMO-activating enzyme subunit 2 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2. [ORCID:0000-0002-3387-1836, PMID:22884621]"} {"concept_id": "C5676738", "aliases": ["Anti-NXP-2 antibody positivity", "Anti-MJ/NXP-2 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-nuclear matrix protein-2 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2. [ORCID:0000-0002-3387-1836, PMID:33343724]"} {"concept_id": "C5676739", "aliases": ["Anti-PL-7 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-threonyl-tRNA synthetase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase. [ORCID:0000-0002-3387-1836, PMID:22732951, PMID:33343724]"} {"concept_id": "C5676740", "aliases": ["Anti-Ro60 antibody positivity"], "types": ["T034"], "canonical_name": "Anti-hY-RNA complex antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60. [ORCID:0000-0002-3387-1836, PMID:30915082, PMID:32083547]"} {"concept_id": "C5676741", "aliases": ["Anti-PL-12 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-alanyl-tRNA synthetase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase. [ORCID:0000-0002-3387-1836, PMID:33343724]"} {"concept_id": "C5676742", "aliases": ["Anti-EJ antibody positivity"], "types": ["T033"], "canonical_name": "Anti-glycyl tRNA-synthetase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase. [ORCID:0000-0002-3387-1836, PMID:27212602]"} {"concept_id": "C5676743", "aliases": [], "types": ["T033"], "canonical_name": "Anti-aminoacyl-tRNA synthetase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme. [PMID:23573256]"} {"concept_id": "C5676744", "aliases": ["Anti-OJ antibody positivity"], "types": ["T033"], "canonical_name": "Anti-isoleucyl tRNA-synthetase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase. [ORCID:0000-0002-3387-1836, PMID:33343724]"} {"concept_id": "C5676745", "aliases": ["Anti-Zo alpha antibody positivity", "Phenylanyl-t-RNA synthetase alpha antibody positivity", "Anti-Zo antibody positivity"], "types": ["T033"], "canonical_name": "Anti-phenylalanyl tRNA synthetase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase. [ORCID:0000-0002-3387-1836, PMID:31665469]"} {"concept_id": "C5676746", "aliases": ["Anti-Ha antibody positivity"], "types": ["T033"], "canonical_name": "Anti-tyrosyl-tRNA synthetase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase. [ORCID:0000-0002-3387-1836, PMID:32933078]"} {"concept_id": "C5676747", "aliases": ["Anti-KS antibody positivity"], "types": ["T033"], "canonical_name": "Anti-asparaginyl-tRNA synthetase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase. [ORCID:0000-0002-3387-1836, PMID:32933078]"} {"concept_id": "C5676748", "aliases": ["Anti-JO1 antibody positivity"], "types": ["T033"], "canonical_name": "Anti-histidyl tRNA synthetase antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase. [ORCID:0000-0002-3387-1836, PMID:15804708]"} {"concept_id": "C5676749", "aliases": ["Anti-cN1A antibody positivity"], "types": ["T033"], "canonical_name": "Anti-cytosolic-5-nucleotidase-1A antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A). [ORCID:0000-0002-3387-1836, PMID:32933078]"} {"concept_id": "C5676750", "aliases": [], "types": ["T033"], "canonical_name": "Anti-Ki antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki. [ORCID:0000-0002-3387-1836, PMID:24557777]"} {"concept_id": "C5676751", "aliases": [], "types": ["T034"], "canonical_name": "Anti-sp100 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins. [PMID:32286240, PMID:33789734]"} {"concept_id": "C5676752", "aliases": ["Anti-beta2GPI IgG antibody positivity"], "types": ["T034"], "canonical_name": "Anti-beta-2-Glycoprotein I IgG antibody positivity", "definition": "Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. [ORCID:0000-0002-3387-1836, PMID:33957795, PMID:34218350]"} {"concept_id": "C5676753", "aliases": ["Anti-beta2GPI IgM antibody positivity"], "types": ["T034"], "canonical_name": "Anti-beta-2-Glycoprotein I IgM antibody positivity", "definition": "Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. [ORCID:0000-0002-3387-1836, PMID:33957795, PMID:34218350]"} {"concept_id": "C5676754", "aliases": ["Anti-PTPA antibody positivity"], "types": ["T116", "T126", "T129"], "canonical_name": "Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions. [PMID:22966073]"} {"concept_id": "C5676755", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating interleukin 9 concentration", "definition": "Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation. []"} {"concept_id": "C5676756", "aliases": [], "types": ["T033"], "canonical_name": "Reduced circulating interleukin 9 concentration", "definition": "An abnormally decreased concentration of interleukin 9 in the blood circulation. []"} {"concept_id": "C5676757", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating interleukin 10 concentration", "definition": "Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation. []"} {"concept_id": "C5676758", "aliases": [], "types": ["T033"], "canonical_name": "Reduced circulating interleukin 10 concentration", "definition": "An abnormally decreased concentration of interleukin 10 in the blood circulation. []"} {"concept_id": "C5676759", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating interleukin 21 concentration", "definition": "Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation. []"} {"concept_id": "C5676760", "aliases": [], "types": ["T033"], "canonical_name": "Reduced circulating interleukin 21 concentration", "definition": "An abnormally decreased concentration of interleukin 21 in the blood circulation. []"} {"concept_id": "C5676761", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating interleukin 21 concentration", "definition": "An abnormally increased concentration of interleukin 21 in the blood circulation. []"} {"concept_id": "C5676762", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating interleukin 22 concentration", "definition": "Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation. []"} {"concept_id": "C5676763", "aliases": [], "types": ["T033"], "canonical_name": "Reduced circulating interleukin 22 concentration", "definition": "An abnormally decreased concentration of interleukin 22 in the blood circulation. []"} {"concept_id": "C5676764", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating interleukin 22 concentration", "definition": "An abnormally increased concentration of interleukin 22 in the blood circulation. []"} {"concept_id": "C5676765", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating interleukin 23 concentration", "definition": "Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation. []"} {"concept_id": "C5676766", "aliases": [], "types": ["T033"], "canonical_name": "Reduced circulating interleukin 23 concentration", "definition": "An abnormally decreased concentration of interleukin 23 in the blood circulation. []"} {"concept_id": "C5676767", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating interleukin 23 concentration", "definition": "An abnormally increased concentration of interleukin 23 in the blood circulation. []"} {"concept_id": "C5676768", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating interleukin 27 concentration", "definition": "Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation. []"} {"concept_id": "C5676769", "aliases": [], "types": ["T033"], "canonical_name": "Reduced circulating interleukin 27 concentration", "definition": "An abnormally decreased concentration of interleukin 27 in the blood circulation. []"} {"concept_id": "C5676770", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating interleukin 27 concentration", "definition": "An abnormally increased concentration of interleukin 27 in the blood circulation. []"} {"concept_id": "C5676771", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal circulating interleukin 17A concentration", "definition": "Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation. []"} {"concept_id": "C5676772", "aliases": [], "types": ["T033"], "canonical_name": "Reduced circulating interleukin 17A concentration", "definition": "An abnormally decreased concentration of interleukin 17A in the blood circulation. []"} {"concept_id": "C5676773", "aliases": [], "types": ["T033"], "canonical_name": "Increased circulating interleukin 17A concentration", "definition": "An abnormally increased concentration of interleukin 17A in the blood circulation. []"} {"concept_id": "C5676774", "aliases": [], "types": ["T190"], "canonical_name": "Fusion of the caudate and putamen", "definition": "Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule. [PMID:26251641, PMID:31194327]"} {"concept_id": "C5676775", "aliases": [], "types": ["T019"], "canonical_name": "Aplasia/Hypoplasia of the liver", "definition": "Absence or underdevelopment of the liver. []"} {"concept_id": "C5676776", "aliases": [], "types": ["T019"], "canonical_name": "Segmental hypoplasia of liver", "definition": "Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging. [PMID:23573097]"} {"concept_id": "C5676777", "aliases": [], "types": ["T047"], "canonical_name": "Spastic triplegia", "definition": "Spastic weakness found in both lower extremities and one upper extremity. [ORCID:0000-0002-6670-9157, PMID:27188686, PMID:32821558]"} {"concept_id": "C5676778", "aliases": ["Increased circulating IGFALS contration"], "types": ["T033"], "canonical_name": "Increased insulin like growth factor binding protein acid labile subunit concentration", "definition": "An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation. []"} {"concept_id": "C5676779", "aliases": [], "types": ["T046"], "canonical_name": "Clavicular pseudarthrosis", "definition": "A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint). [PMID:19232556]"} {"concept_id": "C5676780", "aliases": ["Anti-TSH receptor antibody positivity", "TRAbs"], "types": ["T033"], "canonical_name": "Anti-thyroid-stimulating hormone receptor antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone. [ORCID:0000-0002-3387-1836, PMID:10874533, PMID:26293122, PMID:3018097, PMID:30224035]"} {"concept_id": "C5676781", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal fetal cardiovascular physiology", "definition": "Abnormal functionality of the fetal cardiovascular system. []"} {"concept_id": "C5676782", "aliases": [], "types": ["T033"], "canonical_name": "Elevated fetal middle cerebral artery peak systolic velocity", "definition": "Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound. [ORCID:0000-0002-8593-2186, PMID:28191060]"} {"concept_id": "C5676783", "aliases": ["Blistering with suprabasal clefting"], "types": ["T033"], "canonical_name": "Suprabasal cleavage", "definition": "Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells. []"} {"concept_id": "C5676784", "aliases": [], "types": ["T080"], "canonical_name": "Triggered by muscle relaxant", "definition": "Applies to a sign or symptom that is provoked or brought about by exposure to a muscle relaxant such as suxamethonium and mivacurium. []"} {"concept_id": "C5676785", "aliases": [], "types": ["T033"], "canonical_name": "Third trimester onset", "definition": "This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. []"} {"concept_id": "C5676786", "aliases": [], "types": ["T033"], "canonical_name": "Second trimester onset", "definition": "This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 21 6/7 (inclusive). []"} {"concept_id": "C5676787", "aliases": ["Early fetal onset"], "types": ["T033"], "canonical_name": "Late first trimester onset", "definition": "This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive). []"} {"concept_id": "C5676788", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal CSF homovanillic acid concentration", "definition": "Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. []"} {"concept_id": "C5676789", "aliases": [], "types": ["T033"], "canonical_name": "Increased CSF homovanillic acid concentration", "definition": "Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. []"} {"concept_id": "C5676790", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal iduronate sulfatase concentration"} {"concept_id": "C5676791", "aliases": [], "types": ["T033"], "canonical_name": "Decreased iduronate sulfatase level", "definition": "An decreased level of iduronate-2-sulfatase activity in the blood circulation. []"} {"concept_id": "C5676792", "aliases": [], "types": ["T033"], "canonical_name": "Decreased circulating C1-esterase inhibitor concentration", "definition": "Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation. [PMID:30844193]"} {"concept_id": "C5676793", "aliases": [], "types": ["T019"], "canonical_name": "Abnormal fetal nervous system morphology", "definition": "An anomlous structural finding of the fetal nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []"} {"concept_id": "C5676794", "aliases": [], "types": ["T019"], "canonical_name": "Abnormal fetal gastrointestinal system morphology", "definition": "An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []"} {"concept_id": "C5676795", "aliases": [], "types": ["T046"], "canonical_name": "Fetal intracranial hemorrhage", "definition": "Abnormal bleeding inside the skull (cranium) of a fetus. []"} {"concept_id": "C5676796", "aliases": ["Grade I fetal intracranial hemorrhage"], "types": ["T046"], "canonical_name": "Fetal subependymal hemorrhage", "definition": "A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch. []"} {"concept_id": "C5676797", "aliases": [], "types": ["T046"], "canonical_name": "Fetal intraventricular hemorrhage", "definition": "A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain. [PMID:16082722, PMID:27734711]"} {"concept_id": "C5676798", "aliases": [], "types": ["T046"], "canonical_name": "Fetal cerebral parenchymal hemorrhage", "definition": "A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain. [PMID:16082722]"} {"concept_id": "C5676799", "aliases": [], "types": ["T046"], "canonical_name": "Fetal extra-axial hemorrhage", "definition": "A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space). []"} {"concept_id": "C5676800", "aliases": [], "types": ["T046"], "canonical_name": "Fetal posterior fossa hemorrhage", "definition": "A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum. []"} {"concept_id": "C5676801", "aliases": ["Grade II fetal intracranial hemorrhage"], "types": ["T046"], "canonical_name": "Fetal intraventricular hemorrhage without ventriculomegaly", "definition": "A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium. [PMID:16082722]"} {"concept_id": "C5676802", "aliases": [], "types": ["T046"], "canonical_name": "Fetal cerebellar hemisphere hemorrhage", "definition": "A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum. [PMID:12795563, PMID:26426778]"} {"concept_id": "C5676803", "aliases": [], "types": ["T046"], "canonical_name": "Fetal cerebellar vermis hemorrhage", "definition": "A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum. [PMID:26426778]"} {"concept_id": "C5676804", "aliases": [], "types": ["T033"], "canonical_name": "Sonographic non-visualized fetal bladder", "definition": "Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation. [PMID:8915088]"} {"concept_id": "C5676805", "aliases": ["Grade III fetal intracranial hemorrhage"], "types": ["T046"], "canonical_name": "Fetal intraventricular hemorrhage with ventriculomegaly", "definition": "A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography. []"} {"concept_id": "C5676806", "aliases": ["Grade IV fetal intracranial hemorrhage"], "types": ["T046"], "canonical_name": "Fetal intraventricular hemorrhage with periventricular hemorrhage", "definition": "A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma. [PMID:12905503]"} {"concept_id": "C5676807", "aliases": [], "types": ["T019"], "canonical_name": "Temporal lobe megalencephaly", "definition": "Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain. [ORCID:0000-0001-8612-1062, PMID:19098178]"} {"concept_id": "C5676808", "aliases": [], "types": ["T019"], "canonical_name": "Temporal lobe dysplasia", "definition": "A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations. [ORCID:0000-0001-8612-1062, PMID:24585534]"} {"concept_id": "C5676809", "aliases": ["Increased umbilical artery pulsatility index", "Elevated umbilical artery Dopplers"], "types": ["T033"], "canonical_name": "Elevated umbilical artery pulsatility", "definition": "Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth. [PMID:32746120]"} {"concept_id": "C5676810", "aliases": [], "types": ["T033"], "canonical_name": "Absent end-diastolic umbilical artery flow", "definition": "An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole. []"} {"concept_id": "C5676811", "aliases": [], "types": ["T033"], "canonical_name": "Reversed end-diastolic umbilical artery flow", "definition": "An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow). [PMID:19797010]"} {"concept_id": "C5676812", "aliases": [], "types": ["T184"], "canonical_name": "Champagne cork sign", "definition": "Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding. [ORCID:0000-0001-8612-1062, PMID:23408600, PMID:31173381]"} {"concept_id": "C5676813", "aliases": [], "types": ["T019"], "canonical_name": "Aortic isthmus hypoplasia", "definition": "A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta. [PMID:27860551]"} {"concept_id": "C5676814", "aliases": [], "types": ["T019"], "canonical_name": "Proximal aortic arch hypoplasia", "definition": "A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta. [PMID:27860551]"} {"concept_id": "C5676815", "aliases": [], "types": ["T019"], "canonical_name": "Distal aortic arch hypoplasia", "definition": "A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta. []"} {"concept_id": "C5676816", "aliases": ["Type A cross fused renal ectopia"], "types": ["T019"], "canonical_name": "Inferior crossed fused renal ectopia", "definition": "A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position). [PMID:29446682]"} {"concept_id": "C5676817", "aliases": ["S-shaped kidney", "Type B cross fused renal ectopia"], "types": ["T019"], "canonical_name": "Sigmoid kidney", "definition": "A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation. [PMID:23599575, PMID:29446682]"} {"concept_id": "C5676818", "aliases": ["Type C cross fused renal ectopia"], "types": ["T019"], "canonical_name": "Unilateral lump kidney", "definition": "A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly. [PMID:29446682]"} {"concept_id": "C5676819", "aliases": ["Type D cross fused renal ectopia"], "types": ["T019"], "canonical_name": "Disc kidney", "definition": "A type of cross fused renal ectopia in which kidneys fuse along their medial borders. []"} {"concept_id": "C5676820", "aliases": [], "types": ["T019"], "canonical_name": "Superior crossed-fused renal ectopia", "definition": "A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly. [PMID:29446682]"} {"concept_id": "C5676821", "aliases": [], "types": ["T019"], "canonical_name": "Open neural tube defect", "definition": "A type of neural tube defect that is not covered by skin. [PMID:23456749]"} {"concept_id": "C5676822", "aliases": [], "types": ["T019"], "canonical_name": "Closed neural tube defect", "definition": "A type of neural tube defect that is covered by skin. [PMID:23456749]"} {"concept_id": "C5676823", "aliases": [], "types": ["T019"], "canonical_name": "Fetal neck mass", "definition": "An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more. [PMID:30422714]"} {"concept_id": "C5676824", "aliases": [], "types": ["T019"], "canonical_name": "Abnormal fetal pulmonary morphology", "definition": "An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []"} {"concept_id": "C5676825", "aliases": [], "types": ["T019"], "canonical_name": "Gastric pseudomass", "definition": "At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass. [PMID:15888614]"} {"concept_id": "C5676826", "aliases": [], "types": ["T019"], "canonical_name": "Fetal head anomaly"} {"concept_id": "C5676827", "aliases": [], "types": ["T019"], "canonical_name": "Fetal scalp mass", "definition": "An abnormal growth (lump) of tissue that projects from the fetal scalp. [PMID:24767653]"} {"concept_id": "C5676828", "aliases": [], "types": ["T033"], "canonical_name": "Increased fetal lens echogenicity", "definition": "Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus. [PMID:27433255]"} {"concept_id": "C5676829", "aliases": [], "types": ["T047"], "canonical_name": "Severe influenza infection", "definition": "An unusually severe infection by an influenza virus. [PMID:25814066]"} {"concept_id": "C5676830", "aliases": [], "types": ["T046"], "canonical_name": "Fetal nuchal edema", "definition": "Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis. [PMID:16507941, PMID:9880279]"} {"concept_id": "C5676831", "aliases": [], "types": ["T033"], "canonical_name": "Eosinophil nuclear hypersegmentation", "definition": "An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes. [PMID:10732836, PMID:25313414]"} {"concept_id": "C5676832", "aliases": ["Midbrain panda sign"], "types": ["T184"], "canonical_name": "Face of the giant panda sign", "definition": "The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda. [PMID:14557570]"} {"concept_id": "C5676833", "aliases": [], "types": ["T033"], "canonical_name": "Absent dermoepidermal hemidesmosomes", "definition": "Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. [PMID:19945618]"} {"concept_id": "C5676834", "aliases": [], "types": ["T033"], "canonical_name": "C4 nephritic factor positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement. [ORCID:0000-0002-3387-1836, PMID:23117396, PMID:27146825, PMID:28838767]"} {"concept_id": "C5676835", "aliases": ["Aplasia/Hypoplasia of the mesencephalon"], "types": ["T019"], "canonical_name": "Aplasia/Hypoplasia of the midbrain", "definition": "Absence or underdevelopment of the midbrain (mesencephalon). []"} {"concept_id": "C5676836", "aliases": ["Hypoplastic mesencephalon", "Hypoplasia of the mesencephalon"], "types": ["T019"], "canonical_name": "Hypoplasia of the midbrain", "definition": "A developmental defect characterized by underdevelopment of the mesencephalon. [PMID:25561519]"} {"concept_id": "C5676837", "aliases": [], "types": ["T019"], "canonical_name": "Aplastic zygomatic arch", "definition": "Developmental defect characterized by the absence of the zygomatic arch. [PMID:26119818]"} {"concept_id": "C5676838", "aliases": [], "types": ["T019"], "canonical_name": "Aplasia/Hypoplasia of facial bones", "definition": "A developmental defect characterized by absence or underdevelopment of one or more facial bone. []"} {"concept_id": "C5676839", "aliases": ["Bleeding after sex"], "types": ["T033"], "canonical_name": "Postcoital vaginal bleeding", "definition": "Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle. [PMID:25045355]"} {"concept_id": "C5676840", "aliases": [], "types": ["T033"], "canonical_name": "Vaginal bleeding during sex", "definition": "Bleeding during sex. []"} {"concept_id": "C5676841", "aliases": [], "types": ["T033"], "canonical_name": "Abnormal vaginal physiology", "definition": "Any anomaly of vagina function. []"} {"concept_id": "C5676842", "aliases": [], "types": ["T033"], "canonical_name": "Perifoveal hypoautofluorescence", "definition": "Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea. [PMID:34800980]"} {"concept_id": "C5676843", "aliases": ["Premature facial sagging"], "types": ["T033"], "canonical_name": "Premature sagging cheeks", "definition": "Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation. [PMID:19338976]"} {"concept_id": "C5676844", "aliases": [], "types": ["T033"], "canonical_name": "Elevated circulating deoxyuridine concentration", "definition": "Concentration of 2-deoxyuridine in the blood circulation is above the normal range. []"} {"concept_id": "C5676845", "aliases": ["2,8-dihydroxyadenine urinary crystals"], "types": ["T033"], "canonical_name": "2,8-dihydroxyadenine crystalluria", "definition": "The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals. []"} {"concept_id": "C5676846", "aliases": [], "types": ["T033"], "canonical_name": "Increased fecal protoporphyrin concentration", "definition": "Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces. [PMID:8852667]"} {"concept_id": "C5676847", "aliases": [], "types": ["T047"], "canonical_name": "Recurrent gingivitis", "definition": "Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection. [PMID:32491354]"} {"concept_id": "C5676848", "aliases": [], "types": ["T033"], "canonical_name": "Decreased middle cerebral artery pulsatility index", "definition": "Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity. [PMID:23456797]"} {"concept_id": "C5676849", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal lacrimal bone morphology", "definition": "An abnormality of the lacrimal bone. [GOC:MG]"} {"concept_id": "C5676850", "aliases": [], "types": ["T190"], "canonical_name": "Abnormal iliac artery morphology", "definition": "Any structural anomaly of the iliac artery. []"} {"concept_id": "C5676851", "aliases": [], "types": ["T048"], "canonical_name": "Abnormal interest", "definition": "Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something. [ORCID:0000-0002-4422-1708]"} {"concept_id": "C5676852", "aliases": ["Restricted interests"], "types": ["T048"], "canonical_name": "Circumscribed interests", "definition": "Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests). [ISBN:0890425558, ORCID:0000-0002-4422-1708]"} {"concept_id": "C5676853", "aliases": [], "types": ["T048"], "canonical_name": "Abnormal verbal communicative behavior", "definition": "Any abnormal behavior related to communication with language. []"} {"concept_id": "C5676854", "aliases": [], "types": ["T048"], "canonical_name": "Pronoun reversal", "definition": "A type of language impairment in which incorrect pronouns are used; i.e., using 'I' for 'you' and/or 'you' for 'I' (e.g., a child saying 'You want some more milk' meaning 'I want some more milk'). Reversal errors involve the person component, such that 'I' and 'you' become confused. [ORCID:0000-0002-4422-1708, PMID:27103941]"} {"concept_id": "C5676855", "aliases": [], "types": ["T048"], "canonical_name": "Abnormal production of facial expressions", "definition": "An abnormality in the subdomain of nonverbal communication which involves a reduction in or atypical production of emotional facial expressions. [ORCID:0000-0002-4422-1708, PMID:26803417]"} {"concept_id": "C5676856", "aliases": ["Hand-taking gestures"], "types": ["T048"], "canonical_name": "Hand-leading gestures", "definition": "Taking other people by the hand to places they wish them to move to or taking someone's hand to objects they want them to manipulate. [ORCID:0000-0002-4422-1708, PMID:25388062]"} {"concept_id": "C5676857", "aliases": [], "types": ["T048"], "canonical_name": "Fixated interest with abnormal focus", "definition": "A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners. [ORCID:0000-0002-4422-1708, PMID:23880382]"} {"concept_id": "C5676858", "aliases": [], "types": ["T048"], "canonical_name": "Fixated interest with abnormal intensity", "definition": "An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person. [ORCID:0000-0002-4422-1708, PMID:23880382]"} {"concept_id": "C5676859", "aliases": [], "types": ["T048"], "canonical_name": "Sensory seeking", "definition": "Unusual interest in sensory aspects of the environment. [ORCID:0000-0002-4422-1708, PMID:29112858]"} {"concept_id": "C5676860", "aliases": [], "types": ["T048"], "canonical_name": "Lack of social initiations", "definition": "Failure of a person to initiate social interactions with others. For a social interaction to have been initiated by someone, there must have been an absence of social interactions from either party for a period. The interaction must also be unprompted from another party. [ORCID:0000-0002-4422-1708, PMID:18064552]"} {"concept_id": "C5676861", "aliases": [], "types": ["T048"], "canonical_name": "Reduced collaborative play", "definition": "Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5. [ORCID:0000-0002-4422-1708, PMID:25428293]"} {"concept_id": "C5676862", "aliases": [], "types": ["T048"], "canonical_name": "Absence of interest in peers", "definition": "Lack of interest of an individual for peers of comparable age and social groups. [ORCID:0000-0002-4422-1708]"} {"concept_id": "C5676863", "aliases": [], "types": ["T048"], "canonical_name": "Reduced sharing of interests", "definition": "Decreased sharing of interests with others. [ORCID:0000-0002-4422-1708]"} {"concept_id": "C5676864", "aliases": [], "types": ["T048"], "canonical_name": "Reduced object sharing", "definition": "An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life. [ORCID:0000-0002-4422-1708, PMID:26803417]"} {"concept_id": "C5676865", "aliases": [], "types": ["T033"], "canonical_name": "Anti-Ma antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma. [PMID:27460184, PMID:33070888]"} {"concept_id": "C5676866", "aliases": [], "types": ["T033"], "canonical_name": "Anti-Ma1 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1. [PMID:15179063, PMID:27460184]"} {"concept_id": "C5676867", "aliases": [], "types": ["T033"], "canonical_name": "Anti-titin antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin. [PMID:27235344, PMID:30918333, PMID:32830177]"} {"concept_id": "C5676868", "aliases": [], "types": ["T033"], "canonical_name": "Anti-Zic4 antibody positivity", "definition": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4). [PMID:29249374, PMID:29525731, PMID:31533147, PMID:32087460]"} {"concept_id": "C5676869", "aliases": [], "types": ["T033"], "canonical_name": "Increased fetal long bone echogenicity", "definition": "An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization. [PMID:24091809, PMID:28548288]"} {"concept_id": "C5676870", "aliases": [], "types": ["T048"], "canonical_name": "Reduced use of typical gestures", "definition": "A diminished use of typical non-verbal conversational gestures such as shaing the head to indicate no or nodding the head to indicate yes. [ORCID:0000-0002-4422-1708, PMID:21182208]"} {"concept_id": "C5676871", "aliases": [], "types": ["T019"], "canonical_name": "Abnormal fetal genitourinary system morphology", "definition": "An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []"} {"concept_id": "C5676872", "aliases": ["Fetal atrial septal dilatation", "Redundant septum primum flap"], "types": ["T190"], "canonical_name": "Foramen ovale aneurysm", "definition": "Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow. [PMID:30601441]"}