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]


Aplasia of the malleus. [DDD:dfitzpatrick]


Aplasia of the stapes. [DDD:dfitzpatrick]


Lack of observable tonsillar tissue. [HPO:probinson]


Congenital absence of foreskin
Absent foreskin

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]


Allergic reaction to tree nuts that is triggered by the immune system.


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.


Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). [HPO:curators]


A type of inferior mediastinal mass that is located in front of the pericardium. []


Any abnormal noise generated by the beating heart. []


Crackles that are heard during the inspiratory phase. [PMID:26229557]


Crackles that occur during expiration. [PMID:26229557]


Thin vermillion
Thin lips
Decreased volume of lip vermillion
Thin vermilion border
Decreased volume of lip

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]


Presence of multiple polyps in the duodenum. [HPO:probinson]


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]


Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. [HPO:probinson]


A markedly blue coloration of the iris. [HPO:probinson]


Chronic spontaneous urticaria
Chronic idiopathic urticaria
CSU

Urticaria characterized by spontaneously recurring hives for 6 weeks or longer. [PMID:25807072]


Inflammation, or an inflammatory state in the large intestine. []


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]


A deviation from the normal range of neutrophil cell counts in the circulation. [HPO:probinson]


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]


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]


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]


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]


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]


Abnormal circulating luteinizing hormone level

Abnormal circulating luteinizing hormone concentration

An anomaly of the circulating level of luteinizing hormone (LH). []


Abnormal circulating testosterone concentration

An anomalous concentration of testosterone in the blood. []


Abnormal blood oxygen level
Abnormal blood O2 level
Abnormal blood oxygen levels

An abnormality of the partial pressure of oxygen in the arterial blood. [HPO:probinson]


Number of leukocytes per volume of blood beyond normal limits. [HPO:probinson]


Any deviation from the normal number of basophils per volume in the blood circulation. []


Any deviation from the normal number of red blood cells per volume in the circulation. []


Abnormal mean corpuscular Hb concentration

Abnormal mean corpuscular haemoglobin concentration

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. []

Abnormal mean corpuscular hemoglobin concentration


Abnormal number of lymphocytes
Abnormality of lymphocyte number
Abnormal lymphocyte count
Abnormal lymphocyte counts

Any abnormality in the total number of lymphocytes in the blood. []


Redundant skin
Sagging, redundant skin
Loose redundant skin

Loose and sagging skin often associated with loss of skin elasticity. [HPO:probinson]


A recurrent form of sinusitis. [HPO:probinson]


Repeated infections of the urinary bladder. [HPO:probinson, PMID:20639019]


Upper respiratory tract infections, recurrent

Recurrent upper respiratory and lower respiratory infections

Recurrent upper respiratory tract infections

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]

Frequent upper respiratory tract infections


Abnormal narrowing of the choana (the posterior nasal aperture). [HPO:probinson]

Narrowing of the rear opening of the nasal cavity


A partial or complete breakage of the metacarpophalangeal joint. []


A type of fracture in which the ends of the fractured bone are no longer aligned. []


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]


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]


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]


Elevated circulating thyroid-stimulating hormone concentration

Increased thyroid-stimulating hormone level

Elevated thyroid stimulating hormone levels

Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. [DDD:spark]

Increased serum thyroid-stimulating hormone


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. []


An abnormal growth that projects from the mucous membrane of the urinary bladder. []


Reduced strength and weakness of the muscles of the arms and legs. [HPO:sdoelken]


A laboratory test result indicating abnormal cells found in the urine sample.


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.


Atypical petit mal seizures
Atypical absence
Atypical absence seizure

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]


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.


Abnormality of horizontal incisor relationship

Protrusion of upper teeth in front of lower teeth

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.


A benign or malignant (primary or metastatic) neoplasm affecting the adrenal medulla.


An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.


Pancreatic islet-cell hyperplasia
Hyperplastic islets of langerhans
Hypertrophic pancreatic islets
Islets of langerhans hypertrophy
Pancreatic islet-cell hypertrophy

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.


Low glucose levels in cerebral spinal fluid

Abnormally low glucose concentration in the cerebrospinal fluid. [HPO:probinson]


Diffuse unlocalised atrophy affecting the cerebrum. [HPO:sdoelken]


excess of ornithine in the plasma, such as occurs in the genetic disorders gyrate atrophy of choroid and retina and hyperornithinemia-hyperamonemia-homocitrullinuria syndrome.


Absence (aplasia) of the spleen. [HPO:curators]


Obsessive-compulsive behavior
Obsessive compulsive behavior
Obsessive-compulsive behaviour

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.


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.


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.


Electrocardiographic long PR interval
Prolonged PR interval

An electrocardiographic finding of a PR interval of more than 0.20 seconds in adults.


A sudden, temporary sensation of heat predominantly experienced by some women during MENOPAUSE. (Random House Unabridged Dictionary, 2d ed)


Cessation of breathing and/or cardiac function.


Any disorder marked by obstruction of conducting airways of the lung. AIRWAY OBSTRUCTION may be acute, chronic, intermittent, or persistent.


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.


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.


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)


A pathological process consisting of the formation of new blood vessels in the CHOROID.


A pattern of inheritance of a trait that includes the contributions from more than one gene.


The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. [HPO:probinson, PMID:16304353]


Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. [HPO:curators]


Hashimoto thyroiditis
Chronic lymphocytic thyroiditis

An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.


A hemangioma arising from the fetal blood vessels in the placental villi.


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.


A glioma that arises from the brain stem.


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.


Epicanthic folds
Eye folds
Epicanthus
Palpebronasal fold
Epicanthal folds
Prominent eye folds
Epicanthal fold

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]


Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself. []


A tumor (abnormal growth of tissue) of the genital system. [HPO:probinson]


MYCOBACTERIUM infections of organs other than the lung.


Cognitive abnormality
Intellectual impairment


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)


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]


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.

Peripheral primitive neuroectodermal neoplasm


Presence of an intraocular lens after cataract extraction.


Incomplete ossification of palatine bone

Incomplete mineralization of palatine bone

Failure to complete ossification (maturation and calcification) of the palatine bone. [GOC:MG]

Incomplete calcification of palatine bone


Absent fetal nasal bone
Unossified nasal bone

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]


Radial hypoplasia
Hypoplastic radius
Shortening of radius
Short radii
Hypoplastic radii
Underdeveloped outer large forearm bone
Short radius

A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity.


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]


Abnormality of the ischium
Abnormality of the ischial bones

An anomaly of the ischium, which forms the lower and back part of the hip bone. [HPO:probinson]


Failure to complete ossification (maturation and calcification) of the pubic bone. []


Single nare
Single nostril
Single naris
Mono nostril

The presence of only a single nostril. [PMID:19152422]


Lung segmentation defects
Abnormal lung lobation

A developmental defect in the formation of pulmonary lobes. [HPO:probinson]


Type 4 ventricular septal defect
Ventricular septal defect, muscular

A congenital heart defect resulting from deficient growth or failure of fusion of the muscular component of the ventricular septum.


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


Aplasia of the upper jaw bones
Failure of development of maxilla
Agenesis of the maxilla
Aplasia of the maxilla

A congenital defect characterized by absence of the Maxilla. [HPO:probinson]

Failure of development of upper jaw bones


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.


Cleft of the face
Tessier facial cleft
Facial cleft

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.


Developmental hypoplasia of the ovary. [HPO:probinson]


Abnormal shortness of the vertical dimensions of the eyelids. [http://medical-dictionary.thefreedictionary.com/microblepharia]


Hypoplasia of the thymus
Thymus hypoplasia

Underdevelopment of the thymus. [HPO:curators]


Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. [HPO:probinson]


Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food. [PMID:16461139]


Hypersensitivity in form of an adverse immune reaction against seafood. []


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]


Malignant gastrointestinal tract tumours

A primary or metastatic malignant neoplasm involving any part of the digestive system.


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).


A group of autosomal recessive and less frequently autosomal dominant muscular dystrophies affecting the muscles of the hips and shoulders.


Medullary cystic disease
Nephronophthisis

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.


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.


Painful sensation in the gastrointestinal region.


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).


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]


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.


Recurrent pneumonia
Pneumonia, recurrent episodes

An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. [HPO:probinson, PMID:15750465]


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).


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.


A carcinoma that arises from the skin. Representative examples are basal cell carcinoma and squamous cell carcinoma.


Decreased reflexes
Decreased tendon reflexes
Decreased reflex response
Depressed tendon reflexes
Diminished deep tendon reflexes
Hyporeflexia

Reduction of neurologic reflexes such as the knee-jerk reaction. [HPO:probinson]


Delayed relaxation of muscle fibres after contraction

Delayed relaxation of muscle fibers after contraction

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.


An episode of lightheadedness and dizziness which may precede an episode of syncope.


Elevated circulating creatinine concentration

An increased amount of creatinine in the blood. [HPO:gcarletti]


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)


A finding indicating decreased oxygen levels in the blood.


Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. [HPO:probinson]


Hypersensitivity in form of an adverse immune reaction against animal dander. []


An aggressive embryonal tumor with multilayered rosettes characterized by the presence of amplification of the C19MC region on chromosome 19 (19q13.42).


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. []


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)


Sweating, increased
Diaphoresis
Increased sweating
Profuse sweating


Pylorus stenosis
Infantile hypertrophic pyloric stenosis

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.


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]


Complete absence of any auricular structures. [HPO:probinson, PMID:19125421]


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).


The most dramatic and severe form of hair loss characterized by an absence of hair follicles. [PMID:14676077]


Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. [UToronto:chum]


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]


Aplasia of the fingers
Hand has less than 5 fingers
Absent fingers

Aplasia of one or more fingers. [HPO:curators]


Decreased serum parathyroid hormone level

Decreased circulating parathyroid hormone level

An abnormally decreased concentration of parathyroid hormone. [PMID:1302009, RGD:gthayman]


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]


A hemangioblastoma that arises from the retina. It can occur sporadically or as part of von Hippel- Lindau syndrome.


Retinal cavernous hemangioma
Retinal cavernous angioma

A cavernous hemangioma arising from the retina.


A visual impairment characterized by the accumulation of fluid under the retina through a defect in the retinal pigment epithelium.


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]


Non-accomodative convergence excess esotropia

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]


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]


Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle. [ORCID:0000-0003-0986-4123]


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]


An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant). [ORCID:0000-0003-0986-4123]


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]


Abnormal results from the diagnostic tests resulting from cardiac catheterization. []


A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. []


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.


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.


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]


A subjective manifestation of disease localized to the abdomen. []


Longstanding metabolic acidosis. [HPO:probinson, PMID:15882309]


Increased resistance to the passage of air in the upper airway. [HPO:probinson]


Hypokalemic hypochloremic metabolic alkalosis


Elevated maternal serum alpha-fetoprotein

An elevation of alpha-feto protein in the maternal serum. [HPO:curators]


Inflammation of the cartilage of the external ear. [HPO:probinson]


Increased bilirubin
Increased total bilirubin

Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. [HPO:probinson]


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. []


An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. [HPO:probinson, ISBN:0199747725, PMID:28261574]


Atrophy of cerebellar vermis
Vermian atrophy
Atrophy of the cerebellar vermis

Wasting (atrophy) of the vermis of cerebellum. [HPO:probinson]


Atrophy of the cervical segment of the spinal cord. [HPO:probinson]


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]


Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis. [PMID:15857336, PMID:28829677]


Elevated fibrin degradation fragment concentration

An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation. [PMID:19008457]

Elevated circulating D-dimer concentration


Rest dyspnea
Breathlessness at rest
Dyspnea at rest
Dyspnoea at rest

Breathlessness at rest or without exertion.


A type of dystonia that is localized to a specific part of the body. [HPO:probinson]


Recurrent ear infections
Frequent ear infections

Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections. [ORCID:0000-0001-5208-3432]


A partial or complete breakage of the head of femur. []


Short foetal thigh bone length
Short foetal femur length
Short fetal thigh bone length

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]


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. []


An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells.


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. []


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.


Genital defects
Genital abnormality
Genital abnormalities
Genital anomalies

An abnormality of the genital system. [HPO:probinson]


A partial or complete breakage of the head. []


A reduction below the normal ratio of the volume of red blood cells to the total volume of blood. []


Recurrent synchronous diaphragmatic flutter

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]


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]


Increased amount of pigmentation in the macula lutea. [DDD:ncarter]


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.


A traumatic break in one or more of the bones that compose the knee joint.


A circumscribed area of pus or necrotic debris in the labia. [PMID:7598776]


The presence of multiple lipomas (a type of benign tissue made of fatty tissue). [HPO:sdoelken]


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.


An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis. [HPO:probinson]


Muscle weakness, generalized
Generalised muscle weakness
Muscle weakness, diffuse
Generalized weakness
Generalised weakness
Muscle weakness, generalised

A reduction in the strength of muscles in multiple anatomic sites.


Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months. [PMID:23953336]


Recurrent episodes of otitis media
Susceptibility to otitis media
Recurrent otitis media
Frequent otitis media
Recurrent middle ear infection
Multiple episodes of otitis media

Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. [HPO:probinson]


A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. [HPO:probinson]


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]


Recurrent sore throat
Pharyngitis, recurrent

An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis. [HPO:probinson]


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]


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]


An abnormality of the prostate. [HPO:probinson]


Repeated episodes of pyelonephritis. [HPO:probinson]


A heterogeneous and/or septated cyst located in the kidney.


Progressive renal insufficiency
Renal insufficiency, progressive
Renal failure, progressive


Right atrial enlargement
Right atrial dilatation

Increase in size of the right atrium. [HPO:probinson]


A blood clot in the right atrium of the heart.


Inflammation of the sacroiliac joint, generally accompanied by lower back pain. [HPO:probinson]


Syncope following a quick change in position from lying down to standing. [HPO:probinson]


Absence of the thyroid gland in a newborn.


Chiari type I malformation
Arnold Chiari type I malformation
Chiari I malformation

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]


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]


A kind of ataxia that affects movements of the extremities. [HPO:probinson]


Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements. [PMID:6568936]


A widening (ballooning) localized in the wall of the posterior communicating artery. []


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

A droopy eyelid

Double vision or other changes in vision

Pain above or behind the eye

A dilated pupil

Numbness or weakness on one side of the face or body

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


Complex fever fit
Complex febrile seizures
Complex febrile convulsion

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]


A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. [HPO:probinson]


Marked, involuntary jerking of the eyelids. []


Myoclonus that occurs during the initial phases of sleep. [HPO:probinson]


Transient swelling of muscle induced by percussion

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]


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

Male and over 40 years old

Exposed to certain workplace chemicals

Infected with HPV

A smoker

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


Weakness of muscles controlling eye movement

Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. [HPO:curators]


A genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria.


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.


A fear of sounds, which can include fear of voices, including one's own voice, in addition to other sounds.


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]


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]


Focal onset seizure
Focal seizure
Partial seizures
Focal seizures
Focal-onset seizures
Seizure affecting one half of brain
Partial seizure

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.


Status epilepticus without prominent motor symptoms, the duration of which is at least ten minutes.


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]


A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other. []


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]


Decreased strength of the vocal fold on both sides. [HPO:probinson]


A loss of the ability to move the vocal fold on one side. [HPO:probinson]


Decreased strength of the vocal folds. [HPO:probinson]


Decreased strength of the vocal fold on one side. [HPO:probinson]


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]


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.


Malignant peripheral nerve sheath tumour

A malignant neurilemmoma with nerve sheath differentiation. It is often associated with NEUROFIBROMATOSIS 1 and RHABDOMYOSARCOMA.


An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.


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.


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.


Inability to coordinate movements when walking

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.


A primary headache disorder which occurs exclusively during sleep and regularly awakes patients at a consistent time of night.


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]


Disorganized thinking, disorientation, or inappropriate responsiveness to external stimuli that occurs during and after awakening.


Localized clonic seizure
Localised clonic seizure
Segmental clonic seizure
Partial clonic seizure
Focal clonic seizures

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]


Focal tonic seizure
Partial tonic seizures
Partial tonic seizure
Segmental tonic seizure
Focal tonic seizures
Local tonic seizures
Localized tonic seizure

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]


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)


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.


Applies to an individual who needs help in moving from bed to chair or requires a complete transfer. [PMID:10362969]


Cold skin temperature
Cool skin
Coldness
Cool skin temperature

Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness. [PMID:16770929, PMID:32491414]


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.


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.


Increased triglycerides
Hypertriglyceridemia
Increased circulating Tg levels
Increased serum triglycerides
Increased plasma Tg levels

An abnormal increase in the level of triglycerides in the blood. [HPO:probinson]


A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. [HPO:curators]


Thrombocytosis
Increased number of platelets in blood
Thrombocythaemia

Increased numbers of platelets in the peripheral blood. (Dorland, 27th ed)


Dissection or a tear of the ABDOMINAL AORTA. It includes thoracoabdominal aortic dissection at the aortic hiatus.


A partial or complete breakage of the distal phalanx. []


A neoplasm composed of squamous or epidermal cells.


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.


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.


A cough that is not accompanied by expectorated secretions.


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.


Abnormality of blood and blood-forming tissues

Abnormality of the haematopoietic system

An abnormality of the hematopoietic system. [HPO:probinson]


Localised skin lesion
Localized skin lesion

A pathologic process that affects the skin and is confined to a specific area.


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]


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]


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]


Elevated circulating creatine phosphokinase

A laboratory test result which indicates increased levels of creatine phosphokinase in a biological specimen.


Impaired renal creatinine clearance
Decreased GFR
Reduced creatinine clearance

A laboratory test result which indicates a decreased glomerular filtration rate.


Decreased circulating low-density lipoprotein levels

An decreased concentration of low-density lipoprotein cholesterol in the blood. [HPO:gcarletti]


Abnormality of the nail. [HPO:probinson]


Abnormality of peripheral nervous system electrophysiology

An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles. []


increased international normalised ratio

Increased international normalised ratio

Increased international normalized ratio

A laboratory test result demonstrating an increased ratio of the patient's prothrombin time to a control sample.


Decreased international normalised ratio

Decreased international normalized ratio


Abnormal serum ferritin
Abnormal plasma ferritin

Abnormal circulating ferritin concentration

A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma. [HPO:probinson, PMID:29723227]


Congenital bilateral facial palsy
Congenital facial diplegia

Facial diplegia (that is, bilateral facial palsy) with congenital onset. [HPO:curators]


Any deviation from the normal number of eosinophils per volume in the blood circulation. []


Abnormal MCV
Abnormal erythrocyte volume

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. []


An abnormally decreased level of immunoglobulin E (IgE) in blood. [HPO:probinson]


Peripheral neutropenia
Neutropoenia
Low neutrophil count
Neutropenia

A decrease in the number of neutrophils in the peripheral blood.


Abnormally high level of basophils in the blood.


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.


Elevated gastrin in the blood
Increased blood gastrin

An elevated amount of gastrin in the blood. [http://orcid.org/0000-0001-7941-2961]


Inverted CD4:CD8 ratio
Inverted CD4/CD8 ratio

An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells. [PMID:29095912]


Bullae of oral mucosa
Oral blistering
Blisters of mouth
Oral mucosal blisters
Oral mucosa blisters

Blisters arising in the mouth. [HPO:probinson]


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. []


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]


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]


Abnormal reduction in the count of eosinophils in the blood per volume. [HPO:probinson]


Bleeding below the skin
Subcutaneous haemorrhage

This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). [HPO:probinson]


Insulin resistant diabetes
Insulin resistant diabetes mellitus
Insulin-resistant diabetes

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]


Dysplasia affecting the vasculature of the gastrointestinal tract. [HPO:probinson]


Lightening or darkening of the lips from their usual coloring. []


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.

Breakdown of light-sensitive cells in back of eye


An angiosarcoma that has spread to another anatomical site.


An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. [HPO:probinson]


Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). [HPO:probinson]


An anomaly of the mobility of ejaculated sperm. [HPO:probinson]


Any anomaly in the function of thrombocytes. [HPO:probinson]


An anomaly in platelet form, ultrastructure, or intracellular organelles. [DDD:kfreson]


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). []


A deviation of urine pH from the normal range of 4.5 to 7.8. []


An abnormally reduced count of basophils per volume in the blood circulation. []


Any structural abnormality or abnormal count of basophils. [HPO:probinson, PMID:24075190]


An abnormal count or structure of eosinophils. [HPO:probinson, PMID:23154224]


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. []


An increased consentration of zinc in the blood. [HPO:probinson]


The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung. []


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]


Bulging of wall of large artery located above heart

An abnormal balloon- or sac-like dilatation in the wall of the ASCENDING AORTA.


An abnormal balloon- or sac-like dilatation in the wall of the AORTIC ARCH.


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.


Wide based gait
Wide-based gait
Broad based gait
Wide based walk

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]


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]


ASD
Autistic behaviour
Pervasive developmental disorder
Autistic behaviors
Autistic behavior

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]


Hyperbilirubinemia, neonatal
Neonatal hyperbilirubinemia

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.


AV nodal tachycardia
Atrioventricular nodal tachycardia

A type of supraventricular tachycardia that originates in the atrioventricular node. [DDD:dbrown, PMID:20733110]


Subluxation of patella
Partial knee cap dislocation

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]


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

An abnormality of the pinna, which is also referred to as the auricle or external ear. [HPO:probinson]


A higher than average level of platelets in a sample.


An abnormal functionality of the thyroid gland. [HPO:probinson]


Abnormal circulating aldosterone
Abnormal plasma aldosterone


Decreased aldosterone production
Hypoaldosteronism
Decreased circulating aldosterone level
Decreased aldosterone
Decreased serum aldosterone

Abnormally reduced levels of aldosterone. [DDD:spark, HPO:probinson]


A deviation from normal concentrations of estradiol in the circulation. []


Elevated serum parathyroid hormone level

Elevated circulating parathyroid hormone level

An abnormal increased concentration of parathyroid hormone. [HPO:probinson]


Posterior subcapsular opacities of the lens

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.


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]


Unprovoked explosive pathological sneezing. [PMID:17388999]


Telangiectasia, facial
Facial telangiectatic vessels

Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. [HPO:probinson]


Abnormally low level of immature red blood cells in the blood.


An abnormal accumulation of fluid beneath the skin on the palm of the hand. []


A disorder characterized by an intermittent abnormal VOCAL CORDS movement toward the midline during inspiration or expiration resulting in upper AIRWAY OBSTRUCTION.


A benign or malignant neoplasm arising from the hair follicle.


Meat allergen allergy
Allergy to meat allergens

An allergic reaction triggered by exposure to foodborne allergens found in meat.


Mottled skin colouring
Mottled skin coloring

Patchy and irregular skin pigmentation. [HPO:probinson]


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. []


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]


Uncontrolled episodes of crying, without apparent motivating stimuli. [ICM:PCaroppo]


Addiction to methylphenidate. [ORCID:0000-0002-4095-8489, PMID:28790493]


Inflammation of the entire colon. [PMID:16189424]


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.


Hypertrophy of the outermost layer of the epidermis. It may be caused by physical or chemical irritants, irradiation, infection, or neoplastic processes.


An acute or chronic infectious process affecting the lungs.


The term hemophagocytosis describes the pathologic finding of activated macrophages, engulfing erythrocytes, leukocytes, platelets, and their precursor cells. (from Medscape: Hemophagocytic Syndromes and Infection)


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.


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

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

Focal seizure with secondary generalization

Bilateral tonic-clonic seizure with focal onset

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]


Small areas of bleeding (hemorrhage) under the fingernail or toenail. [HPO:probinson]


Hypoplastic phalanges of hands
Short phalanges
Hypoplastic phalanges
Short finger bones
Hypoplastic/small phalanges of the hand
Rudimentary phalanges
Phalangeal hypoplasia
Shortened phalanges

Short (hypoplastic) phalanx of finger, affecting one or more phalanges. [HPO:sdoelken]


Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood. []


A severe form of gait ataxia such that an affected person cannot walk at all. [HPO:probinson]


A increased concentration of serotonin in the blood. [HPO:probinson]


Ischemic necrosis of the bone tissue and the marrow.


An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa. [PMID:25952601]


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).


A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. [HPO:probinson]


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.


Abnormality of the tongue
Tongue abnormality
Abnormal tongue
Glossal abnormality

Any abnormality of the tongue. [HPO:probinson]


Hypokaluria
Decreased urinary K
Low urine potassium levels
Hypokaliuria

A decreased concentration of potassium(1+) in the urine. [HPO:probinson]


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]


A kind of short stature in which different regions of the body are shortened to differing extents. [HPO:probinson]


Proportionate short stature
Short stature, proportionate

A kind of short stature in which different regions of the body are shortened to a comparable extent. [HPO:probinson]


Elevated concentration of urate in the urine. [HPO:probinson]


Absence of ceruloplasmin in the blood. []


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.


Less than normal linear growth in an infant or child.


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]


Leber optic degeneration
Leber optic atrophy

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.


Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage.


A sleep disorder characterized by excessive sleepiness.


A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep.


A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the brain.


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). []


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]


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)


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.


Acroosteolysis
Acro-osteolysis
Breakdown of small bones of fingers

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.

Osteolytic defects of the phalanges of the hand


A balloon type pouch or bulge in the wall of a cerebral blood vessel.


Neoplasm of the ovaries
Neoplasm of the ovary
Ovarian tumour
Ovarian neoplasia
Ovarian tumor

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.


Idiopathic constriction of the fetal ductus arteriosus

Fetal ductus arteriosus narrowing-closure

Premature closure of the ductus arteriosus

Closure of the ductus arteriosus prior to birth.


Abnormal calcification of the mitral valve. [HPO:probinson]


Excessive or uncontrolled release of proinflammatory cytokines. [PMID:22390970]


A below normal level of saturation of serum transferrin with iron. [HPO:probinson]


Abnormally high level of fibrinogen in the blood.


Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake. [PMID:25949488]


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]


An abnormal thickening of the Achilles tendon. [HPO:probinson]


A reduction in the ability to maintain sustained attention characterized by reduced alertness. [PMID:16581292]


An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells. []


Overriding toes
Overlapping toes
Overlapping toe

Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. [HPO:probinson, PMID:19125433]


Reduced vitamin b6 levels
Reduced circulating vitamin B6 level

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.


An abnormality of the biliary system. [HPO:probinson]


Proximal muscle weakness due to defect at the neuromuscular junction

Generalized muscle weakness due to defect at the neuromuscular junction

Generalised muscle weakness due to defect at the neuromuscular junction


An acute episode of focal cerebral, spinal, or retinal dysfunction caused by infarction of brain tissue.


Increased red blood cell distribution width

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]


Presence of nitrites in the urine. [OHSU:jpgourdine, PMID:27377945]


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.


Abnormal cerebral white matter morphology

Abnormality of the cerebral white matter

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.


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.


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]


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.


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.


Partial or total occlusion of a vein. (ACC)


An increased concentration of 4-hydroxy-L-proline in the urine. [HPO:gcarletti]


An abnormally high level of uric acid in the urine. [HPO:probinson]


Incomplete development of the pituitary gland.


Hypergonadotropic hypogonadism
Hypergonadotrophic hypogonadism

Ovarian or testicular dysfunction associated with high levels of gonadotropins.


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.


First period after the age of 15 years. [HPO:probinson]


The classical form of porokeratosis with isolated lesions.


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.


The presence in a cell of a chromosome pair that is composed of both homologous chromosomes from one parent.


The presence in a cell of a chromosome pair that is composed of duplicates of one parental chromosome.


Impairment of verbal communication skills, often resulting from brain damage.


The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut. [HPO:curators]


Lower limb deformities
Abnormality of the lower limb

An abnormality of the leg. [HPO:probinson]


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]


Calcification, that is, pathological deposition of calcium salts in the aorta. [HPO:probinson]


A decreased anteroposterior thickness of the cornea. [HPO:gblack]


Aberrant mesenchymal cell growth within the placenta. It may be associated with Beckwith-Wiedemann Syndrome.


Average platelet volume above the upper limit of the normal reference interval. [DDD:wouwehand]


Average platelet volume below the lower limit of the normal reference interval. [DDD:wouwehand]


Calcium deposition in the myocardium. [HPO:probinson]


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.


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]


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. []


Nerve damage causing decreased feeling and movement


A teratoma that arises within the myocardium or cardiac chambers.


A cerebrovascular accident (stroke) that occurs because of thromboembolism. [HPO:probinson]


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]


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]


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]


Increased prothrombin induced by vitamin K absence-II

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]


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). []


A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule. [HPO:probinson]


Hyperplasia of the thyroid gland. [HPO:probinson]


Acute pain that comes on rapidly despite the use of pain medication.


Patellar dislocation
Dislocation of patella
Dislocated patellae

Displacement of the PATELLA from the femoral groove.


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]


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.


A bilateral vestibular Schwannoma (acoustic neurinoma). [HPO:curators]


Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. [PMID:19125433]


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.


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]


Hyperalbuminemia
High blood albumin levels

Elevation in the concentration of albumin in the blood. [HPO:probinson]


A decreased concentration of carnitine in the blood. [HPO:gcarletti]


An erosion of the mucous membrane in the region connecting the ileum and cecum. [PMID:28744345]


Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. [HPO:6045396, HPO:probinson]


Brown or black discoloration of the nails. [HPO:probinson]


Movements, behaviors and sensations similar to a seizure, but due to psychological distress instead of a neurological disorder.


Flat philtrum
Philtrum, smooth
Shallow philtrum
Simple philtrum
Indistinct philtrum
Decreased depth of philtrum

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]


An electrocardiographic finding in which there is an alternating pattern of any of the waveform components.


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.


A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci. [HPO:probinson, ISBN:978-0192628961]


Increased levels of animo acids in urine


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]


Increased cerebrospinal fluid lactate
Hyperlactatorachia
Increased CSF lactic acid

Increased concentration of lactate in the cerebrospinal fluid. [HPO:curators]


CSF albumin level is below the lower limit of normal. [ORCID:0000-0003-0169-8159, PMID:27388694]


Pathological deposition of calcium salts in one or more arteries. [HPO:probinson, PMID:18519861]


An asymmetriy, i.e., difference in size, shape or position between the left and right ear. [HPO:probinson]


Urine valine level above the normal range. [NSTRN:jmiller]


Accentuated thoracic kyphosis
Exaggerated thoracic kyphosis

Over curvature of the thoracic region, leading to a round back or if sever to a hump. [HPO:probinson]


Lumbar lordosis
Exaggerated lumbar lordosis
Increased lumbar lordosis
Prominent lumbar lordosis
Lumbar hyperlordosis

An abnormal accentuation of the inward curvature of the spine in the lumbar region. [HPO:probinson]

Excessive inward curvature of lower spine


Frontal Cowlick
Upswept frontal hair
Frontal upsweep of hair

Upward and/or sideward growth of anterior hair. [PMID:19125436]


Symptom characterized by the passage of stool once a week or less.


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.


The growth of INTESTINAL POLYPS. Growth processes include neoplastic (ADENOMA and CARCINOMA) and non-neoplastic (hyperplastic, mucosal, inflammatory, and other polyps).


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.


Separation of the umbilical cord occurs at an abnormally late timepoint. [PMID:11483823]


Duplication of the spinal cord. [HPO:sdoelken]


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)


A coagulation disorder caused by abnormalities in fibrin that result in defective clot formation. This disorder may be inherited or acquired.


Functional respiratory abnormality
Abnormal respiratory system physiology

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:

Lung conditions such as asthma, emphysema, or pneumonia

Problems with your trachea or bronchi, which are part of your airway system

Heart disease can make you feel breathless if your heart cannot pump enough blood to supply oxygen to your body

Anxiety and panic attacks

Allergies

If you often have trouble breathing, it is important to find out the cause.


Pigmentation anomaly
Pigmentary skin changes
Abnormality of pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin colour
Abnormal skin pigmentation
Pigmentary changes

An abnormality in the formation or distribution of pigment in the skin, hair or nails.


Subretinal accumulation of extracellular matrix components.


Hypersensitivity in form of an adverse immune reaction against insect bites. []


Malignant connective tissue tumour
Sarcoma
Cancer of connective tissue

A connective tissue neoplasm formed by proliferation of mesodermal cells; it is usually highly malignant.


An abnormality of XY sexual development characterized by the absence of both testes at birth. [HPO:probinson]


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]


Hypersensitivity in form of an adverse immune reaction against parasites. []


Persistent blue color of the skin that surrounds the mouth. [PMID:2797223]


Mycoses which manifest as infections of deep tissue or blood.


Eosinophilic gastrointestinal disease
Gastrointestinal eosinophilia
Eosinophilic enteritis
Eosinophilic gastroenteritis
GI eosinophilia

Gastroenteritis that is characterized by eosinophilic infiltration.


The presence of abnormally large testes. [HPO:probinson]


Childhood attention deficit/hyperactivity disorder

Attention deficit hyperactivity disorder

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)


An abnormality characterized by disruption of the normal functioning of peripheral axons. [HPO:probinson]


Increased size of the lymph nodes that are located beneath the mandible (lower jaw). []


Refractory anaemia with ringed sideroblasts

Refractory anemia with ringed sideroblasts

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)


Telangiectases, random body distribution

Telangiectases (small dilated blood vessels) with a diffuse localization. [HPO:curators]


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.


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.


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)


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.


Dysembryoplastic neuroepithelial tumor
DNET

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)


An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. [HPO:sdoelken]


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]


A malposition of the pupil owing to a developmental defect of the iris. [DDD:gblack, HPO:probinson]


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]


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]


Abnormal function of the left ventricule during left ventricular relaxation and filling. [PMID:12527689, PMID:14594874]


Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus. []


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]


Hyperhidrosis of palms and soles
Excessive sweating of palms and soles

An abnormally increased perspiration on palms and soles. [HPO:probinson]


Meibomian gland disease
Posterior blepharitis

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.


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. []


A type of divergent strabismus (exotropia) that develops in a poorly seeing eye. [ORCID:0000-0003-0986-4123]


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]


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]


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.


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]


Red blood cells that appear to have parts of them bitten away. [ISBN:978-0-07174889-6]


The degree of impairment of the left cardiac ventricle to contract efficiently. (ACC)


A lack of mobility of ejaculated sperm. [HPO:probinson]


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.


Episodes of muscle weakness. [HPO:probinson]