Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. [HPO:probinson]


Cat eye
Coloboma of the iris
Coloboma of iris
Keyhole iris

A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.


Abnormality of the joints
Anomaly of the joints
Abnormal shape of joints

An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. [HPO:probinson]


Overactive knee reflex
Hyperreflexia in knees
Brisk knee jerk


A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity. []


Any white discoloration of the nails or nail plates.


Bluish discoloration of the lips. [ORCID:0000-0002-9578-0788]


A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation. []


Enlargement of the lip typically due to fluid buildup or inflammation. [ORCID:0000-0001-5208-3432]


An unintentional, oscillating to-and-fro muscle movement affecting the lip. []


An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). [HPO:curators]


Swelling caused by excess lymph fluid under skin


Midface hyperplasia
Big midface
Hypertrophy of midface
Midfacial excess
Hyperplasia of midface
Midfacial prominence
Large midface

Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face [HPO:probinson, PMID:19125436]


Upper jaw deficiency
Small maxilla
Micromaxilla
Hypoplasia of the maxilla
Hypoplasia of upper jaw bones
Maxillary deficiency
Hypoplastic maxillary bones
Maxillary micrognathia
Maxillary retrusion
Decreased size of upper jaw
Small upper jaw bones
Decreased size of maxilla
Small upper jaw
Upper jaw retrusion

Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. [HPO:probinson]


A mass present in the mediastinal space.


Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. [HPO:ibailleulforestier, PMID:19125428]


A progressive reduction in amplitude during a writing task


A form of reactive arthritis in which the inflammation moves between joints.


Gaped mouthed appearance
Open mouth appearance
Slack jawed appearance
Open mouth

A facial appearance characterized by a permanently or nearly permanently opened mouth. [HPO:probinson]


Intramuscular hematomas
IM hematoma
Intramuscular haematoma
Intramuscular hemorrhage
Intramuscular haemorrhage

Blood clot formed within muscle tissue following leakage of blood into the tissue. [HPO:probinson]


Underdeveloped muscles
Muscle hypoplasia
Hypoplasia of the musculature
Poorly developed skeletal musculature

Underdevelopment of the musculature. [HPO:sdoelken]


Progressive muscular weakness
Muscle weakness, progressive


Neck muscle weakness
Flaccid neck
Floppy neck

Decreased strength of the neck musculature. [HPO:probinson]


The time in every 24 hour period when it is dark.


Polly beak nasal deformity
Convex nasal dorsum
Hooked nose
Convex dorsum of nose
Beaked nose
Beaklike protrusion

Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. [PMID:19152422]


Increased volume and globular shape of the anteroinferior aspect of the nose. [PMID:19152422]


Any structural change to the nose that results in a defect, which may be cosmetic, functional, or both. The deformity may be congenital, as in the cases of cleft palate, a mass, or defective cartilage, or acquired, as in a fracture, a hematoma, mass, or scarring from a previous surgery.


A form of nystagmus in which the eyeball makes rotary motions around the axis. [HPO:probinson]


Palate edema
Palatal oedema
Palate oedema

Swelling related to fluid accumulation within the palate. []


Ogival palate
High arched palate
Palate high-arched
High palate
High-arched palate
Palate, high-arched
Elevated palate
Increased palatal height

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). [PMID:19125428]


Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand. [ORCID:0000-0001-5208-3432]


Delayed thromboplastin generation
Partial thromboplastin time prolonged
Abnormal partial thromboplastin time
Prolonged PTT
Prolonged partial thromboplastin time

An abnormal laboratory test result in which the partial thromboplastin time is found to be greater than the control value. As a possible indicator of coagulopathy, a prolonged partial thromboplastin time (PTT) may occur in a variety of diseases and disorders, both primary and related to treatment.

Prolonged activated partial thromboplastin time


Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles). [HPO:curators]


Length of penis more than 2 SD below the mean for age accompanied by hypospadias. [HPO:probinson, PMID:23650202]


Compression of the heart caused by rigid, thickened, or fused pericardial membranes. [PMID:14966039]


Weakness of the peroneal muscles. [HPO:probinson]


A noticeable change in a person's behavior and thinking. Causes include depression, drug or alcohol abuse, brain injuries, brain tumors, and Alzheimer's disease.


Fluid exuded from the posterior wall of the pharynx. [ORCID:0000-0002-9578-0788]


An abnormal accumulation of fluid beneath the skin on sole of the foot. []


Elevated plasma renin
Hyperreninemia
Elevated blood renin level
Increased serum renin
Increased plasma renin

An increased level of renin in the blood. [HPO:probinson]


The presence of a fistula between the perineum and the rectum. [HPO:probinson]


Birth defect that causes a hole in the innermost layer at the back of the eye

Absence of a region of the retina, retinal pigment epithelium, and choroid. [HPO:probinson]


Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina. [HPO:probinson]


Congenital vertical talus
Rocker-bottom feet
Rocker bottom foot
Rockerbottom feet

Congenital severe form of flatfoot involving dislocation of the NAVICULAR BONE OF FOOT on the TALUS.


The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. [HPO:probinson]


An excessive desire to eat salt (sodium chloride) or salty foods. []


Painful sensation in the skin covering the top and the back of the head.


An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly. [PMID:16247074]


Winged scapulas
Scapula alata
Winged shoulder blade
Scapular winging

Abnormal protrusion of the scapula away from the surface of the back. [HPO:probinson]


Yellow sclera
Scleral icterus
Yellow conjunctiva
Yellowing of the whites of the eyes

Yellowing of the white part of the eyes, often due to a rise in bilirubin levels.


Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. [HPO:probinson]


Increased circulating androstenedione concentration

Increased concentration of androstenedione in the blood circulation. []


Decreased circulating ceruloplasmin concentration

Decreased concentration of ceruloplasmin in the blood. [HPO:probinson, PMID:32119309]


Elevated circulating creatine kinase concentration

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. [HPO:probinson]


A reduction below normal concentration of estradiol in the circulation. []


Decreased serum ferritin
Decreased plasma ferritin
Reduced serum ferritin

Decreased circulating ferritin concentration

Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. [HPO:probinson]


Increased circulating ferritin concentration

Increased concentration of ferritin in the blood circulation. [HPO:probinson]


Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity. [HPO:probinson]


Stretchable skin
Hyperextensible skin
Hyperelastic skin
Skin hyperelasticity

A condition in which the skin can be stretched beyond normal, and then returns to its initial position. [HPO:sdoelken]


A large (greater than 5-10 mm) raised skin lesion with a wide, flat surface.


Pustular lesion
Skin pustules
Skin pustule
Pustula
Pustules

A circumscribed and elevated skin lesion filled with purulent material.


Formation of new tissue formed in the healing of a wound.


Laminar thickening of skin. [HPO:sdoelken]


Skin that splits easily with minimal injury. [HPO:probinson]


Smooth muscle antibody positive
Smooth muscle antibody positivity

The presence in serum of antibodies against smooth muscle. [HPO:probinson]


A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout. [PMID:21250236]


Poor speech acquisition
Delayed speech development
Deficiency of speech development
Speech delay
Late-onset speech development
Impaired speech development
Delayed speech
Delayed speech acquisition


An increased proportion of eosinophils in sputum in the differentiated cell count. [HPO:probinson, PMID:23741092, PMID:29146301]


Difficulty in standing
Standing instability


Increased linear growth
Tall stature
Increased body height

Height greater than two standard deviations above the mean of the appropriate reference population for the age and sex of the individual.


A pathological finding in which inflammation, hyperemia and enlarged papillae of the dorsum of the tongue resemble a strawberry. It may be seen in variety of bacterial and viral disorders, and in non-infectious disorders such as Kawasaki disease.


Absent fat below the skin
Lack of fatty tissue below the skin
General absence of subcutaneous fat

Lack of subcutaneous adipose tissue. [HPO:probinson]


Excessive desire to eat sweet foods. [ICM:PCaroppo]


Hypoplastic testes
Decreased testicular size
Small testes
Small testis

Reduced volume of the testicle (the male gonad). [HPO:probinson]


Spoon-shaped, broad thumbs. [HPO:curators]


Triphalangeal thumbs
Finger-like thumb
Accessory phalanx of the thumb
Triphalangy of thumb
Digitalized thumb

A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. [HPO:probinson, PMID:19125433]


An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe. [UToronto:chum]


Wasting of the tongue. [ORCID:0000-0001-5208-3432]


Lingual prolapse
Lingual protrusion
Protruding tongue
Prominent tongue
Tongue sticking out of mouth
Lingual prominence
Tongue protrusion

Tongue extending beyond the alveolar ridges or teeth at rest. [PMID:19125428]


An unintentional, oscillating to-and-fro muscle movement affecting the tongue. []


Reduced intensity of the triceps tendon reflex. []


Ulnar deviation of hands
Ulnar deviation of the hand

Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). [HPO:probinson, PMID:19125433]


An increased concentration of catecholamine in the urine. [HPO:probinson]


An uncomfortable feeling of itching and burning in the vaginal opening resulting from inadequate vaginal lubrication. It is commonly seen during and after menopause, childbirth, or stressful conditions. It results in painful intercourse.


Valvular abnormality
Abnormality of the heart valves

Any structural abnormality of a cardiac valve. [HPO:probinson]


Vascular abnormalities
Abnormality of the vasculature
Abnormality of blood vessels

An abnormality of the vasculature. [HPO:probinson]


Kalnienk vision
Loss of peripheral vision

Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. [HPO:probinson]


Reduced intensity (volume) of speech. [HPO:probinson]


An abnormal increase in the pitch (frequency) of the voice. [HPO:probinson]


A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. []


A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity. []


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


Absent deep tendon reflexes
Loss of deep tendon reflexes


Excretion of non-amino organic acids in urine. [HPO:probinson]


Generalised brain degeneration
Generalized brain atrophy
Generalized cerebral atrophy
Diffuse brain atrophy
Generalised cerebral atrophy
Generalised brain atrophy
Generalized brain degeneration

Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. [HPO:sdoelken]


A record of a patient's background regarding health and disease events of blood relatives. A patient's family medical history may be important in diagnosing existing conditions.


An angiomyolipoma arising from the kidney.


Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema. [PMID:18195376, PMID:20028879, PMID:24106540]


Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care. [PMID:18195376]


A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria.


Sub-optimal OXYGEN levels in the ambient air of living organisms.


The absence of or defect in the perception of colors.


Narrowing or constriction of a coronary artery.


Bacterial infection of the hair follicle and the surrounding skin. It is caused by Staphylococcus aureus. It presents as a painful, erythematous and swollen skin lesion.


A lipoprotein metabolism disorder characterized by decreased levels of high-density lipoproteins, or elevated levels of plasma cholesterol, low-density lipoproteins and/or triglycerides.


Insufficient production of all the anterior pituitary hormones.


Difficulty getting a full erection
Erectile abnormalities
Impotence
Abnormal erection
Difficulty getting an erection

The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction.


A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. [HPO:probinson]


A primary or metastatic malignant neoplasm involving the lung.


An abnormal occlusion where some of the mandibular teeth are buccal to the maxillary teeth.


A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)


A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.


Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct. [HPO:probinson]


A biochemical abnormality referring to an elevation of BLOOD UREA NITROGEN and CREATININE. Azotemia can be produced by KIDNEY DISEASES or other extrarenal disorders. When azotemia becomes associated with a constellation of clinical signs, it is termed UREMIA.


A rapid, multivectorial, conjugate, involuntary eye movement, without an intersaccadic interval.


The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. [DDD:wouwehand]


A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi).


An autosomal dominant disorder showing decreased levels of plasma protein S antigen or activity, associated with venous thrombosis and pulmonary embolism. PROTEIN S is a vitamin K-dependent plasma protein that inhibits blood clotting by serving as a cofactor for activated PROTEIN C (also a vitamin K-dependent protein), and the clinical manifestations of its deficiency are virtually identical to those of protein C deficiency. Treatment with heparin for acute thrombotic processes is usually followed by maintenance administration of coumarin drugs for the prevention of recurrent thrombosis. (From Harrison's Principles of Internal Medicine, 12th ed, p1511; Wintrobe's Clinical Hematology, 9th ed, p1523)


Abnormal left ventricular function
Left ventricular dysfunction
Impaired left ventricular function

A condition in which the LEFT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE; MYOCARDIAL INFARCTION; and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the left ventricular wall.


Bronchiolitis obliterans organizing pneumonia

Bronchiolitis obliterans organising pneumonia

A form of organizing pneumonia with a non-infectious etiology. Excessive proliferation of granulation tissue occurs in alveolar ducts and alveoli and primarily causes injury to alveolar walls, but bronchioles may be affected.


A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breathing, CYANOSIS, right ventricle atrophy, and abnormal heart sounds (HEART MURMURS).


The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)


A state arrived at through prolonged and strong contraction of a muscle. Studies in athletes during prolonged submaximal exercise have shown that muscle fatigue increases in almost direct proportion to the rate of muscle glycogen depletion. Muscle fatigue in short-term maximal exercise is associated with oxygen lack and an increased level of blood and muscle lactic acid, and an accompanying increase in hydrogen-ion concentration in the exercised muscle.


Absence of the orifice between the RIGHT ATRIUM and RIGHT VENTRICLE, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR) because the right ventricle is absent or not functional.


Inflammation of brain parenchymal tissue as a result of viral infection. Encephalitis may occur as primary or secondary manifestation of TOGAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; BUNYAVIRIDAE INFECTIONS; PICORNAVIRIDAE INFECTIONS; PARAMYXOVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RETROVIRIDAE INFECTIONS; and ARENAVIRIDAE INFECTIONS.


Abnormality of the cardiovascular system

Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.


A disorder characterized by multiple, wide spread cutaneous cysts that often become inflamed and rupture. It is caused by the same mutations in the gene coding for KRT-17 that are causative mutations for Pachyonychia congenita, Type 2. Natal teeth involvement is sometimes associated with steatocystoma multiplex.


A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).


A record of a patient's medical background regarding the cancer and cancer-related problems of blood relatives.


Growth issue
Abnormal growth
Growth abnormality


A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.


Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.


A partial or complete breakage of the cervical vertebra. []


Vertebral compression fracture
Vertebral body compression
Vertebral compression fractures
Vertebral compression or collapse
Fractures of vertebral bodies
Vertebral compression

Compression fracture of a vertebral body


Abnormality of the teeth
Dental anomalies
Abnormality of the dentition
Abnormal dentition
Dental abnormality
Dental abnormalities

disorders of the dental system that exist at, and usually before, birth regardless of their causation.


A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees. [ORCID:0000-0003-0986-4123]


A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders. [PMID:34383758]


Excessive wrinkling of the skin of the face. [HPO:curators]


A fracture of one of the lumbar vertebra.


A neoplasm arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent. Overall cure rates are excellent following excision of the abnormal gland(s).


An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). [HPO:probinson, PMID:16700283]


Short attention span
Poor attention span

Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder. [HPO:curators]


Any structural abnormality of the sweat gland. [HPO:probinson]


Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. [HPO:probinson]


Frequent urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
Repeated bladder infections
Repeated urinary tract infections
Recurrent UTIs

Repeated infections of the urinary tract. [HPO:probinson]


An abnormality of the vocal cord. [HPO:probinson]


A circumscribed area of pus or necrotic debris in the vulvar region. [PMID:27617247]


A chronic, sporadic, acquired pruritic non-infectious skin condition characterized by one or more well defined inflamed (pink or red) patches or plaques of varying size.


Inflammation of the blood vessel wall characterized by palpable purpura.


Inflammation surrounding hair follicles. [HPO:probinson]


A circumscribed area of pus or necrotic debris in the groin (inguinal region). [PMID:23537455]


A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic. [PMID:33008676]


A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin. [PMID:22346281]


Follicular plugging
Chicken skin
Hyperkeratosis pilaris
Lichen pilaris
Follicular keratosis
Carpet tack sign
Follicular keratotic plug

A very common, non-neoplastic dermatologic disorder characterized by keratinization of hair follicles of the skin. It manifests as small, rough folliculocentric keratotic papules, usually in the outer-upper arms and thighs. It affects children and adolescents and usually improves with age.


a variable physiological livedo reticularis


Telangiectasia macularis eruptiva perstans


Furrows in thickened skin on top of scalp

The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. [HPO:probinson]


Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa. [HPO:probinson]


Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions. [HPO:probinson]


A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)


Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. [HPO:curators]


Fragile, easily breakable hair, i.e., with reduced tensile strength. [DDD:cmoss]


Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. [HPO:probinson]


Premature greying of hair
Premature greying
Premature hair greying
Premature graying
Premature graying of hair
Early graying
Early greying
Premature greying of the hair
Premature hair graying

Development of gray hair at a younger than normal age. [HPO:probinson]


Loss of all hair on the entire body. [HPO:probinson]


A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.


An abnormal loss of anagen (growth phase) hairs. [PMID:28332382]


Nail hypoplasia
Hypoplastic nail
Hypoplastic nails
Small nail

A nail that is diminished in length and width, i.e., underdeveloped nail. [HPO:probinson, PMID:19125433]


The presence of a depressed line (canal") in the center of the nail." []


A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature. [PMID:19125433]


Beau lines
Ladder nail sign
Beau's lines

Linear transverse/horizontal groove of one or more nail plates that migrate distally from the proximal nail fold with nail growth, usually secondary to illness, trauma or malnutrition.


Thickened nails without deformity. [HPO:probinson]


Dystrophic thickened nails
Thickened nails
Onychogryposis

Nail that appears thick when viewed on end. [PMID:19125433]


Chromophore-dependent photodermatosis triggered by UV and visible light.


Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). [HPO:probinson]


Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum. []


Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. [HPO:probinson, PMID:10531070, PMID:9709182]


Narrow intervertebral disc spaces
Narrow intervertebral spaces

Decreased height of the intervertebral disk. [HPO:probinson]


Atlanto-axial subluxation
Atlantoaxial subluxation

Partial dislocation of the atlantoaxial joint. [HPO:curators]


Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic. [HPO:curators]


Knuckle pads on dorsal aspect of finger joints

Benign skin fibromas, typically occurring over the small joints of the hands and feet, that are associated with repetitive friction or pressure.


Inflammation and induration of the fascia related to an accumulation of white blood cells, including eosinophils.


Wedge-shaped vertebrae
Vertebral wedging
Wedged vertebrae

An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. [HPO:probinson]


A condition caused by degenerative arthritis (see OSTEOARTHRITIS) of the METATARSOPHALANGEAL JOINT of the great toe and characterized by pain and limited dorsiflexion, but relatively unrestricted plantar flexion.


For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. [HPO:probinson, PMID:19125433]


An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders. [HPO:sdoelken]


Ski jump nose
Concave nasal ridge
Boxer's nose deformity
Saddle nose
Concave nasal dorsum
Boxer's nasal deformity
Concave dorsum of nose
Saddle shaped nasal dorsum

Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. [HPO:probinson, PMID:19152422]


A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. [HPO:probinson]


An open sore of the nasal mucosa. [PMID:11314863, PMID:25441476, PMID:26657735]


Chronic rhinitis accompanied by pus formation. []


A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain.


Blockage of the laryngeal airway passage.


Tracheal ectopic calcification
Tracheal calcifications
Calcification of the trachea

Abnormal deposits of calcium in the tracheal tissue.


A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the BRONCHI. This results in a floppy bronchial wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing.


Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts. [LMU:crapp, PMID:18195376, PMID:3786716]


A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion. [PMID:18195376]


Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum. [ORCID:0000-0002-4095-8489, PMID:18544671, PMID:27867581]


Saccular dilatation of the terminal bronchioles. [ORCID:0000-0002-8169-9049, PMID:20037680]


Any obstructive lung disease characterized by consolidated formation of GRANULATION TISSUE polyps within ALVEOLAR DUCTS AND ALVEOLI. It is classified as either primary (cryptogenic organizing pneumonia) or secondary organizing pneumonia. Secondary organizing pneumonia after transplantation is called bronchiolitis obliterans syndrome.


Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis. [LMU:mgriese, PMID:1395384, PMID:18195376, PMID:8370825]


Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae. [PMID:18195376]


Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm. [PMID:18195376]


A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace. [LMU:kknoflach, PMID:20028911]


Lymphocytic interstitial pneumonitis
Lymphoid interstitial pneumonitis
Lymphoid interstitial pneumonia

Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment.


Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components. [LMU:crapp]


An increase in the thickness of the pleura, generally related to scarring of the pleural tissue. [PMID:23287997]


A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. [HPO:probinson]


Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view. [HPO:probinson, PMID:21143934]


Intermittent failure of atrial electrical impulse conduction to the ventricles.


Wenckebach block
Mobitz type 1 atrioventricular block

A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)


Conduction block in the anterior division of the left bundle branch of the bundle of His. [DDD:dbrown]


Conduction block in the posterior division of the left bundle branch of the bundle of His. [HPO:probinson]


Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart.


Bulge in wall of large artery that carries blood away from heart


Complete obstruction of a carotid artery. [ORCID:0000-0001-5208-3432]


An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. [HPO:probinson, PMID:8923935]


An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. [HPO:probinson, PMID:335375]


Facial ANGIOFIBROMA in tuberous sclerosis


A congenital condition associated with mutation(s) in the PITX2 and/or FOXC1 genes, encoding pituitary homeobox 2 and forkhead box protein C1, respectively. The condition is characterized by anterior segment dysgenesis of the eye(s), iris and corneal anomalies, glaucoma, craniofacial anomalies, hypodontia, and pituitary hypoplasia with hypopituitarism, and hypospadius.


A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. [HPO:sdoelken]


The condition characterized by uneven or irregular shape of the head often in parallelogram shape with a flat spot on the back or one side of the head. It can either result from the premature CRANIAL SUTURE closure (CRANIOSYNOSTOSIS) or from external forces (NONSYNOSTOTIC PLAGIOCEPHALY).


Premature fusion of the sagittal suture.


Wedge shaped skull
Triangular skull shape
Triangular cranium shape
Trigonocephaly


Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis). [PMID:23814690]


Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot. [UToronto:chum]


Congenital duplication of all or part of a limb. []


A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.


A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities.


Dislocated radial heads
Radial head dislocation/subluxation
Congenital radial head dislocation
Radial head dislocation
Radial dislocation
Dislocation of the radial head
Dislocated radius
Dislocation of radial head

A dislocation of the head of the radius from its socket in the elbow joint. [HPO:curators]


Congenital pseudoarthrosis of the clavicle

The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle. [HPO:probinson, PMID:22295044]


Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). [HPO:probinson]


The total absence of the hand, with no bony elements distal to the radius or ulna. [PMID:19125433]


Accessory carpal bones
Supernumerary carpal bones

The presence of more than the normal number of carpal bones. [HPO:curators]


The total absence of the foot, with no bony elements distal to the tibia or fibula. [PMID:19125433]


Phocomelia affecting only the lower limbs. [HPO:sdoelken]


Aplasia of the femur
Femoral aplasia
Absent femur

Failure of the femur to develop. [HPO:probinson]


A deformity of foot and ankle in which the foot is bent down and outwards. [HPO:probinson]


A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. [HPO:probinson]


Tarsal synostosis
Tarsal bone fusion
Tarsal fusions
Fused ankle bones
Tarsal bone synostosis
Tarsal fusion
Synostosis involving tarsal bones

Congenital, complete or partial fusion of the TARSAL BONES of the foot. PES PLANUS is usually a feature.


Fused toes
Syndactyly of toes
Webbed toes
Syndactyly of feet
Foot syndactyly

Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism"." [HPO:curators]


A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood. [HPO:probinson]


A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. Larsen's syndrome, arthrogryposis multiplex congenita).


Hemivertebra
Hemivertebrae
Missing part of vertebrae

A congenital abnormality characterized by incomplete development of one side of the vertebrae (arch and hemicentrum), resulting in spinal malformation.


Complete or partial merging of adjacent ribs. [HPO:probinson]


An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity. []


A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity. []


A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM.


Abnormality of the nose
Nasal abnormality
Nasal anomaly

An abnormality of the nose. [HPO:probinson]


Nasal underdevelopment
Underdevelopment of nose
Aplasia of the nose
Arrhinia
Failure of development of nose

Complete absence of all nasal structures. [HPO:probinson]


A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.


A rare, fatal congenital malformation in which the trachea is severely underdeveloped.


A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. [UToronto:chum]


Small lung
Underdeveloped lung
Poorly developed lungs
Hypoplastic lung
Pulmonary hypoplasia
Hypoplastic lungs

A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.


A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung. [PMID:19500772]


A rare abnormality in the lungs that is present at birth. It is characterized by hyperinflation of one or more lobes of the lungs. Signs and symptoms appear early in life and include dyspnea, wheezing, and cyanosis.


A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle. [HPO:probinson]


Left ventricular - right atrial communication


Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries. [DDD:dbrown]


Tricuspid valve hypoplasia
Underdeveloped tricuspid valve

Congenital defect characterized by underdevelopment of the tricuspid valve. [DDD:dbrown]


A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.


Underdevelopment of the right-sided structures of the heart. [HPO:probinson]


Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium. [PMID:10859296, PMID:16322929]


Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. [DDD:dbrown, HPO:probinson]


A developmental defect in which the coronary sinus fails to form. [HPO:nvasilevsky, PMID:24551710]


Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch. [DDD:dbrown]


Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch. [DDD:dbrown]


Hypoplastic aortic arch
Underdeveloped aortic arch

An underdeveloped aortic arch that is present at birth. This symptom is usually found in association with other cardiac defects that characterize left heart syndrome.


Significant luminal narrowing of a long segment of or the entire ascending aorta. [PMID:13938144]


A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). [DDD:dbrown, HPO:probinson, PMID:15148283, PMID:15564538]


Left aortic arch with retroesophageal diverticulum of Kommerell

A patent ductus arteriosus or ductal ligament completes the ring. [DDD:dbrown]


A congenital anatomic anomaly in which the aorta is positioned directly above a ventricular septal defect, thus receiving blood from both the right and left ventricles, resulting in an overall decrease In oxygenated haemoglobin and tissue cyanosis.


A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel. [DDD:dbrown, HPO:probinson, PMID:20513726]


An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA). [PMID:27358682]

Anomalous origin of the left circumflex artery from the right coronary artery


Missing pulmonary artery
Absent pulmonary artery

A congenital defect with aplasia (absence) of one of the right or left pulmonary artery. [HPO:probinson, PMID:17192541]


A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. [HPO:probinson]


Underdeveloped pulmonary artery
Pulmonary artery hypoplasia

Underdevelopment of the pulmonary artery. [HPO:probinson]


Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.


Finding of the SUPERIOR VENA CAVA on the left instead of the usual right side of the ASCENDING AORTA. In bilateral superior vena cava it is found on both sides.


Birthmarks are abnormalities of the skin that are present when a baby is born. There are two types of birthmarks. Vascular birthmarks are made up of blood vessels that haven't formed correctly. They are usually red. Two types of vascular birthmarks are hemangiomas and port-wine stains. Pigmented birthmarks are made of a cluster of pigment cells which cause color in skin. They can be many different colors, from tan to brown, gray to black, or even blue. Moles can be birthmarks.

No one knows what causes many types of birthmarks, but some run in families. Your baby's doctor will look at the birthmark to see if it needs any treatment or if it should be watched. Pigmented birthmarks aren't usually treated, except for moles. Treatment for vascular birthmarks includes laser surgery.

Most birthmarks are not serious, and some go away on their own. Some stay the same or get worse as you get older. Usually birthmarks are only a concern for your appearance. But certain types can increase your risk of skin cancer. If your birthmark bleeds, hurts, itches, or becomes infected, call your health care provider.


A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern.


A capillary vascular anomaly that is characterized by hypopigmented macules.


A bluish-gray to gray-brown benign, melanocytic nevus found usually in the LUMBOSACRAL REGION of dark-skinned people, especially those of East Asian ancestry. It is usually congenital or appears shortly after birth, and disappears in childhood.


A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.


The presence of fibromata beneath finger or toenails. [HPO:curators]


Congenital absence of breast
Absent breast
Mammary gland aplasia

Failure to develop and congenital absence of the breast. []


Supernumerary nipple
Accessory nipple
accessory mamilla
Supernumerary nipples
Accessory nipples
Increased nipple number

Presence of more than two nipples. [HPO:probinson]


Congenital structural abnormalities of the DIGESTIVE SYSTEM.


A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus. [HPO:probinson, PMID:21218094]


A supernumerary tooth in the midline between the maxillary central incisors. [HPO:ibailleulforestier, PMID:18262485, PMID:31468724]


The development of two teeth from a single tooth bud, leading to a larger fused tooth. [PMID:18167487]


Small nodules of enamel on the root of a tooth. [PMID:31468724]


Tooth mass excess
Megalodontia
Macrodontia
Large tooth
Increased size of tooth

Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. [HPO:ibailleulforestier, PMID:19125428]


Conical teeth
Conical tooth
Peg-shaped tooth
Cone shaped tooth
Peg shaped teeth
Peg-shaped teeth
Shark tooth
Peg tooth
Conoid tooth

An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. [HPO:ibailleulforestier, PMID:31468724]


Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. [HPO:ibailleulforestier, PMID:31468724]


The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth. [PMID:31468724]


Persistence of deciduous teeth
Failure to exfoliate deciduous teeth
Persistent primary teeth
Persistence of primary teeth
Retained primary teeth
Delayed loss of baby teeth
Failure to lose baby teeth
Deciduous teeth retention
Retained baby teeth
Delayed loss of primary teeth
Persistent deciduous dentition
Delayed loss of deciduous teeth
Persistent primary dentition
Retained deciduous teeth

Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. [HPO:ibailleulforestier]


Eruption, advanced
Advanced eruption of teeth
Advanced dental eruption
Premature eruption of teeth
Premature dental eruption
Early eruption of teeth
Premature tooth eruption
Early dental eruption

Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. [HPO:ibailleulforestier, PMID:19125428]


Absence of overlap of anterior upper and lower teeth

Gap between upper and lower front teeth when biting

Anterior open bite between upper and lower teeth

Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion. [HPO:ibailleulforestier, PMID:27615261]


Absence of overlap of upper and lower teeth

A condition in which certain opposing teeth fail to establish occlusal contact when the jaws are closed.


Increased overlap of upper and lower incisors

Increased superior-inferior overlap of the maxillary central incisors over the mandibular central incisors relative to the incisal ridges.


Bilobed tongue
Bifid tongue
Bifurcated tongue

Tongue with a median apical indentation or fork. [PMID:19125428]


Uvula aplasia
Congenital absence of uvula
Agenesis of uvula
Missing uvula
Absent palatine uvula


Abnormal oesophagus morphology
Anomaly of the oesophagus
Anomaly of the esophagus
Abnormal esophagus morphology
Abnormality of esophagus structure

A structural abnormality of the esophagus. [HPO:probinson]


A congenital abnormality characterized by the presence of a duplicated segment of the esophagus. The duplicated segment may by tubular or cystic.


A developmental anomaly wtih a small tubular or saccular midline stomach. [PMID:10067744]


A rare congenital abnormality characterized by the presence of a duplicated segment of the intestine. The duplicated segment is cystic.


A congenital malformation characterized by the absence of a normal opening in a part of the duodenum.

Absence or narrowing of first part of small bowel


A congenital malformation characterized by the absence of a normal opening in a part of the jejunum.


A congenital malformation characterized by the absence of a normal opening in a part of the ileum.


Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum. []


Colonic atresia
Atresia of the large intestine

A congenital malformation characterized by the absence of a normal opening in a part of the colon.


An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. [HPO:probinson]


A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development.


A congenital abnormality in which the rectum, vagina, and urethra fuse and form a common channel.


Abnormal displacement or malposition of the anus. [HPO:probinson]


An abnormality of the gallbladder. [HPO:probinson]


Absent gallbladder
Aplasia of the gallbladder

A developmental defect in which the gallbladder fails to form. [DDD:hfirth]


Hepatic agenesis
Failed liver development

Absence of the liver owing to a failure of the liver to develop. [HPO:probinson]


Underdeveloped pancreas
Pancreatic hypoplasia

Hypoplasia of the pancreas. [HPO:probinson]


Anatomic variants in PANCREATIC DUCTS characterized by failure of fusion of the ventral and dorsal endodermal buds. Pancreas divisum results in inadequate or no communication between dorsal and ventral ducts. While most cases are asymptomatic, it may be associated with recurrent PANCREATITIS.


Absent development of the adrenal gland. [DDD:spark]


Abnormal anatomical location of the adrenal gland. [DDD:spark]


Abnormal thryoid location
Ectopic thyroid gland
Heteropic thyroid gland

Location of the thyroid gland somewhere other than at the base of the neck.


A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM.


Abnormal kidney
Renal anomalies
Renal anomaly

An abnormality of the kidney. [HPO:probinson]


Unilateral renal agenesis
Absent kidney on one side
Missing one kidney

A congenital abnormality characterized by the presence of only one kidney.


Hypoplastic kidneys
Small kidneys
Hypoplastic kidney
Underdeveloped kidneys

Hypoplasia of the kidney. [HPO:probinson]


A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. [HPO:probinson]


A developmental defect characterized by absence or poor development of proximal renal tubules. [HPO:probinson]


A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter. [HPO:probinson]


A developmental disturbance with extreme ureteral dilatation. [HPO:probinson]


The presence of an abnormal membrane obstructing the urethra. [HPO:probinson]


A congenital abnormality that results from the failure of the lumen of urachus to be obliterated. It presents with leakage of urine from the bladder through the umbilicus.


A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia.


Intersex genitalia
Ambiguous external genitalia
Ambiguous external genitalia at birth

A rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia.


Aplasia, that is failure to develop, of the ovary. [HPO:probinson]


Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels. [PMID:12584384]


A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. [HPO:probinson]


The presence of a supernumerary Fallopian tube. [HPO:probinson, PMID:23532389]


Uterine abnormalities
Abnormality of the uterus

An abnormality of the uterus. [HPO:probinson]


Heart-shaped uterus
Bicornuate uterus
Uterus bicornis

A congenital uterine anomaly in which the UTERUS is divided into two uterine horns with a significant cleft at the uterine fundus due to partial fusion of the MULLERIAN DUCTS. Bicornuate uterus is sometimes associated with a longitudinal vaginal septum and abnormal development of renal tracts.


A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn. [PMID:28811816]


An abnormality in which the MULLARIAN DUCTS do not properly join to form a single uterus during embryological development instead resulting in complete duplication of uterine horns and duplication of the cervix. Double uterus is associated with double cervix and vagina and sometimes renal agenesis.


Underdeveloped uterus
Small uterus
Hypoplasia of the uterus
Rudimentary uterus

Underdevelopment of the uterus. [HPO:probinson]


Cervical aplasia
Aplasia of the cervix
Absent cervix


The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. [HPO:curators]


Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline. [PMID:17364294, PMID:29262197]


A condition characterized by typical male genital appearance in a 46,XY individual in whom testes are unable to be located.


Having only one testis in the scrotum. [HPO:probinson]


The presence of more than two testes. [HPO:probinson]


Absent deferent duct
Congenital absence of the vas deferens
Absent vas deferens

Aplasia (congenital absence) of the vas deferens. [HPO:probinson]


Atretic vas deferens
Atresia of the vas deferens

Abnormal closure or blockage of the vas deferens. []


A congenital abnormality characterized by the extrusion of the brain outside of the skull.


A congenital neural tube closure defect resulting in the protrusion of the brain and meninges through a skull opening.


A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.


Heterogeneous disorders of cortical malformation characterized by excessive and small fused gyri and shallow sulci of the CORTEX with abnormal cortical lamination. It is considered a malformation secondary to abnormal post-migrational development of the neurons during cerebral cortical development and is associated with EPILEPSY and learning difficulties.


Hypoplasia of cerebellum
Congenital cerebellar hypoplasia
Hypoplastic cerebellum
Small cerebellum
Underdeveloped cerebellum

Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.


Colloid cysts i.e. cysts filled with gelatinous material, in the central nervous system often are found in the third ventricle. Due to their location, chronic or intermittent hydrocephalus can result. Case reports of sudden death due to acute obstructive hydrocephalus are in the literature. Colloid cysts are benign lesions that should be considered for neurosurgical resection.


Cerebral pachygyria
Macrogyria
Fewer and broader ridges in brain

Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. [COST:neuromig, HPO:probinson, PMID:22427329]


A rare developmental abnormality characterized by the presence of clefs in the cerebral hemispheres. The abnormality may involve one or both cerebral hemispheres. Signs and symptoms include developmental delays, mental retardation, paralysis, presence of a small head, and seizures.


Gray matter heterotopias
Grey matter heterotopia
Heterotopia
Grey matter heterotopias
Neuronal heterotopia

The presence of neuronal cells in an atypical anatomic site.


The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane. [PMID:20885122, UToronto:chum]


Congenital absence of the spinal cord. [HPO:sdoelken]


Marcus Gunn jaw winking synkinesis
Marcus Gunn jaw-winking syndrome
Trigemino-oculomotor synkinesis

Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. [PMID:23345532, PMID:25754805]


A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. [HPO:probinson]


Abnormal smallness of the lens. [HPO:probinson]


Cornea of eye less than 10mm in diameter

A congenital abnormality characterized by an abnormally small cornea. The horizontal corneal diameter is less than 10mm or less than 9mm in newborns. It is associated with an increased risk of glaucoma.


Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. [HPO:probinson]


Persistent hyperplastic primary vitreous

Persistent hyperplasia of primary vitreous

Persistent posterior foetal fibrovascular sheath of the lens

Persistent hypertrophic primary vitreous

Persistent posterior fetal fibrovascular sheath of the lens

A developmental ocular anomaly in which the primary VITREOUS BODY and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by CATARACT; MICROPHTHALMOS (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)


The drooping of the upper or lower eyelid that is present at the time of birth.


Ablepharon
Ablepharon of eyelid
Absent eyelids
Missing eyelids

A finding in which the eye appears open at birth, either due to the congenital absence of eyelids or incomplete fusion of the eyelid.


The presence of more than the normal number of eyelids. [GOC:MG]


An abnormality of the ear. [HPO:probinson]


Atretic external auditory canals
Atresia of the external auditory canals
External auditory canal atresia
Atresia of the external auditory canal
External acoustic meatus atresia
Atretic external auditory canal
External auditory meatus atresia

Absence or failure to form of the external auditory canal. [HPO:probinson]


Absent inner ear
Labyrinthine aplasia
Michel deformity
Aplasia of the inner ear

Absence of the inner ear due to a developmental defect. [DDD:dfitzpatrick]


Extra cartilage in front of the ear
Accessory Tragus
Pretragal Duplication

Variably shaped, cartilage-containing tissue anterior to the external auditory meatus. [eom:095679c21044c851]


Preauricular pit
Pit in front of the ear
Ear pit
Preauricular earpits

Small indentation anterior to the insertion of the ear. [HPO:sdoelken, PMID:19152421]


The presence of an extra auricle on one or both sides of the head. [HPO:sdoelken]


Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. [HPO:probinson, PMID:19152421]


A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. [HPO:probinson]


An abnormality of the neck. [HPO:probinson]


A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal. [HPO:sdoelken]


Homogeneous organ, each instance of which is a connected or detached part or enclave of some spleen.


An abnormal (non-anatomic) location of the spleen. [HPO:curators]


Joining of the spleen and a gonad during embryological development. [PMID:24137272]


The abnormal arrangement or position of thoracic and/or abdominal organs in relation to each other, often occurring in a right/left transposition.


The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.


A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. [HPO:sdoelken]


A congenital abnormality characterized by the presence of holoprosencephaly, a proboscis, the absence of a nose and microphthalmic, close-set eyes.


Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls. [HPO:sdoelken]


Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate. [PMID:19240824, UToronto:chum]


Histologically-confirmed deep attachment of the placenta into the myometrium that does not cross the serosa.


Abnormal placental pentration beyond the uterine wall

Histologically-confirmed deep attachment of the placenta into the myometrium and serosa. It may further extend into an adjacent organ such as the bladder.


Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. [HPO:curators]


An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta. [HPO:probinson]


An umbilical cord at term that is less than 35 cm in length.


Marginal cord insertion
Marginal umbilical cord insertion

The location of the umbilical cord insertion at the disc edge.


The location of the umbilical cord insertion on the extraplacental membranes.


Derangement of the temporomandibular joint


Palate exostoses
Torus palatinus
Palatal tori

A bony protrusion present on the midline of the hard palate. [HPO:sdoelken]


A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed. []


Posterior displacement of the TONGUE toward the PHARYNX. It is often a feature in syndromes such as in PIERRE ROBIN SYNDROME and DOWN SYNDROME and associated with AIRWAY OBSTRUCTION during sleep (OBSTRUCTIVE SLEEP APNEAS).


Oral-pharyngeal dysphagia
Oral pharyngeal dysphagia

Difficulty in swallowing due to an abnormality in the mouth or throat.


A thin membrane that is present in the esophageal lumen. It is composed of mucosa and submucosa and it may be associated with Plummer-Vinson syndrome.


A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma.


Eosinophilic infiltration in the stomach mucosa

Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia. [orcid.org/0000-0001-5208-3432, PMID:23904840]


Intestinal bleeding
Intestinal hemorrhage

Bleeding from the intestines. [DDD:akelly]


A chronic inflammatory disease of the large intestine (colon, cecum and rectum). [HPO:sdoelken]


A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine). []


Eosinophilic infiltration in the colon
Colonic eosinophilia

Inflammation of the colon that is characterized by eosinic infiltration.


A circumscribed inflammatory and necrotic erosive lesion in the mucosa surface of the colon.


Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption. [PMID:22677080]


Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. [HPO:probinson]


An abscess located at the junction of the anal canal and the rectum. []


Protrusion of tissue at or near the site of an incision from a previous surgery.


The presence of an abscess of the peritoneum. [HPO:probinson]


A type of cirrhosis characterized by the presence of small regenerative nodules. [HPO:probinson]


Proliferative changes of the bile ducts. [HPO:probinson]


A form of amyloidosis that affects the liver. [HPO:probinson]


Cholangitis that is characterized by pyogenic organisms.


Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders.

Inability to properly digest food due to lack of pancreatic digestive enzymes


presence of an abnormally high amount of protein in the blood.


An abnormally low blood pH (usually defined as less than 7.35). [PMID:24381489]


Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35). [HPO:probinson]


Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L). [HPO:probinson]


Decreased circulating copper concentration

abnormally diminished concentration of copper in the blood.


An abnormally decreased phosphate concentration in the urine. [HPO:probinson]


An increased excretion of phosphates in the urine. [HPO:curators]


A type of classical xanthinuria, this disease is a rare autosomal recessive disorder of purine metabolism with characteristics of isolated deficiency of xanthine dehydrogenase, leading to urolithiasis, haematuria, renal colic and urinary tract infections. Some patients are asymptomatic, others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.


An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features.


Increased urinary orotic acid concentration

excess of orotic acid in the urine occurring in several metabolic disorders and also resulting from the administration of some drugs; one disorder is an autosomal recessive defect of pyrimidine metabolism due to deficiency of orate phosphoribosyltransferate or orotidine 5'-phosphatae decarboxylase.


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


A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood.


Abnormally high level of unconjugated bilirubin in the blood.


Abnormally high level of conjugated bilirubin in the blood.


A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). [HPO:probinson, PMID:25852856]


The presence of amyloid deposition in the superficial dermis. [HPO:probinson, PMID:19690585]


A form of amyloidosis that affects the conjunctiva. [HPO:probinson]


The accumulation of amyloid protein in the heart. Cardiac amyloidosis is irreversible and may lead to conductive dysfunction as well as heart failure secondary to restrictive cardiomyopathy.


An increased concentration of phosphoethanolamine in the urine. [HPO:probinson]


A rare, X-linked recessive genetic disorder of glycerol metabolism caused by mutations or deletion in the GK gene. It results in deficiency of the enzyme glycerol kinase. It is characterized by elevated plasma and urine glycerol levels and neurometabolic manifestations which can cause life-threatening metabolic crisis in children.


Renal tubular acidosis, proximal
Proximal tubular acidosis
Renal tubular acidosis, type II

The genetic defect is in the sodium bicarbonate cotransporter gene SLC4A4 resulting in impaired reabsorption of bicarbonate ions in the proximal renal tubules and bicarbonate-wasting.


A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine). [HPO:probinson]


An increased concentration of tryptophan in the urine. [HPO:gcarletti, PMID:18901181]


An increased concentration of urocanic acid in the urine. [HPO:probinson]


Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. [PMID:6790862]


An increased concentration of proline in the blood. [HPO:gcarletti]


An increased concentration of hydroxyproline in the blood. [HPO:gcarletti]


An increased concentration of proline in the urine. [HPO:probinson]


Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.


A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)


Presence of saccharopine in the urine. [PMID:30573525, PMID:32768327, PMID:33996359]


autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial glycine cleavage system; an enzyme system with four components: p-, t-, h-, and l-proteins; deficiency of the p-protein is the most prevalent form; clinical features include seizures, hypotonia, apnea, and coma; when the illness presents in childhood there tends to be an associated progressive dementia accompanied by extrapyramidal signs.


An elevated plasma concentration of sarcosine. [HPO:gcarletti]


An increased concentration of valine in the blood. [HPO:gcarletti]


An increased concentration of leucine in the blood. [HPO:gcarletti]


Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.


Elevated circulating methylmalonic acid concentration

A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.


Glutarate aciduria
Glutaric aciduria
Increased glutarate level in urine

An increased concentration of glutaric acid in the urine. [HPO:gcarletti]


An increased concentration of cystathionine in the blood. [HPO:gcarletti, PMID:16902722]


Abnormally reduced sulfite oxidase level. [HPO:probinson]


An increased concentration of alanine in the blood. [HPO:gcarletti, PMID:16902722, PMID:4696900]


Abnormal function of filtrating structures in kidney


Chronic degenerative changes in the glomeruli characterized by loss of cellularity of glomerular capillary tufts and acellular deposition of immunoglobulins.


Proliferative glomerulonephritis characterized by activation of the alternative complement pathway, resulting in mesangial hypercellularity, endocapillary proliferation, and glomerular basement membrane intramembranous highly electron dense deposits.

Membranoproliferative glomerulonephritis type II


Diffuse mesangial sclerosis glomerulopathy

Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.


A homogenous cyst located in the kidney.


An aberrant, pathological communication between the colon and the bladder. [PMID:30085532]


An abnormal connection (fistula) between the rectum and the urethra. []


Penile length more than 2 SD above the mean for age. []


Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding.


The presence of a fistula between the vagina and the urethra. [HPO:probinson]


A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation. [HPO:probinson, PMID:24251052]


A fluid filled sac located in the Fallopian tube. [HPO:probinson]


Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu [HPO:probinson, PMID:21270291, PMID:28460993]


Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. [PMID:24046799]


The presence of glandular structures in the vagina.


The presence of nipples that instead of pointing outward are retracted inwards. [HPO:sdoelken]


Antepartum hemorrhage
Prepartum hemorrhage
Prepartum haemorrhage

Excessive blood loss prior to onset of labor.


A birth complication caused by impaction of the anterior shoulder against the maternal symphysis pubis that requires additional maneuvers to relieve impaction of the fetal shoulder and allow for delivery.


Pregnancy complication where fetal blood vessels, normally inside the umbilical cord, are left unprotected and cross FETAL MEMBRANES. It is associated with antepartum bleeding and FETAL DEATH and STILLBIRTH due to exsanguination.


Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels. []


Inflammation of the peritoneum caused by an intrauterine intestinal perforation leading to presence of meconium within the fetal peritoneal cavity. This is frequently seen as intra-abdominal calcifications on imaging.


An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement. [HPO:hfirth]


Involuntary discharge of URINE during sleep at night after expected age of completed development of urinary control.


Any of various diseases affecting the white matter of the central nervous system.


Abnormal deposits of calcium in the brain

Abnormal deposits of calcium in the cerebral tissue.


A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity. [HPO:probinson, PMID:32522799]


A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)


A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.


Weakness of all four limbs. [HPO:probinson]


Gelastic seizures
Focal emotional seizure with laughing

Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. [HPO:probinson, PMID:28276060, PMID:28276064]


Generalised non-convulsive status epilepticus without coma

Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure. [PMID:26336950]


Localised seizure with impaired awareness

Focal seizure with impairment of awareness

Localised seizure with loss of awareness

Localized seizure with loss of awareness

Partial seizure with impairment of awareness

Localized seizure with impaired awareness

Focal seizures with impairment of consciousness or awareness

Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. [HPO:pnrobinson, PMID:28276062, PMID:28276064, PMID:9738682]


Prolonged contraction of the muscles, as the result of an epileptic discharge.


Hypotonic seizures
Astatic seizure
Hypotonic seizure
Drop attacks
Drop seizures
Astatic seizures
Atonic seizures

Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. [HPO:jalbers, HPO:probinson, ORCID:0000-0002-1735-8178, PMID:11580774]


Involuntary facial contraction
Involuntary facial quivering

Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). [HPO:curators]


Any nerve disorder affecting the axon of a nerve.


Polyneuropathy that is characterized by demyelination of axons.


Muscle atrophy, neurogenic
Neurogenic muscle atrophy


A syndrome of generalized poor muscle tone and muscle weakness presenting in a newborn infant.


Absence of the anterior chamber of the eye owing to a developmental defect. []


Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. [HPO:probinson]


Subhyaloid haemorrhage
Subhyaloid hemorrhage

A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area. [PMID:27090882]


Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium. []


Fluid accumulation in the outer layer of the MACULA LUTEA that results from intraocular or systemic insults. It may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. Although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, DIABETIC RETINOPATHY, and posterior segment inflammatory disease. (From Survey of Ophthalmology 2004; 49(5) 470-90)


Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. [PMID:6169833]


Retinal detachment secondary to retinal tear or break.


An epithelium-lined cyst located in the iris.


A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material. []


A deviation from the normal circular shape of the pupil []


A type of cataract that occurs in the lens cortex. It is characterized by white, wedge-like opacities that start in the periphery of the lens and work their way to the center in a spoke-like fashion.


A type of cataract with punctate opacities of the lens. [HPO:probinson]


Severely close sighted
Severe near sightedness
High myopia
Severe myopia (> -6.00 diopters)
Severely near sighted

A severe form of myopia with greater than -6.00 diopters. [DDD:ncarter]


A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. [HPO:probinson]


A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape. [HPO:probinson]


A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of EYE DISEASES (e.g., RETINAL DISEASES and GLAUCOMA), OPTIC NERVE DISEASES, and other conditions.


Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.


Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible. [HPO:probinson, PMID:10611102, PMID:11222329]


Reduced corneal sensation
Corneal hypesthesia
Corneal hypaesthesia

Reduced ability of the cornea to respond to stimulation. [HPO:probinson]


Edema of the mucous membrane of the eyeball and eyelid lining.


A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs. [ORCID:0000-0003-0986-4123]


A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other. [ORCID:0000-0003-0986-4123]


A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other. [UManchster:psergouniotis]


Tendency for the visual axis of one eye to be higher than that of the other. [ORCID:0000-0003-0986-4123]


A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards. [ORCID:0000-0003-0986-4123]


Trochlear nerve palsy
Superior oblique palsy

Partial or complete paralysis of the trochlear nerve.


Reduced ability to turn the eyes inward in order to focus on a nearby object. [HPO:probinson]


Nystagmus consisting of horizontal to-and-fro eye movements. [HPO:probinson]


Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. [HPO:probinson]


Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. [HPO:probinson]


Fiber- or rope-like opacities located within the vitreous humor. []


Acute otitis media is a short and generally painful infection of the middle ear. [HPO:probinson]


Otitis media, chronic
Chronic otitis media
Chronic infections of the middle ear

Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. [HPO:probinson]


Sensorineural hearing loss in which a person loses the ability to hear sounds in low frequency.


Decreased functionality of the female gonads, i.e., of the ovary. [HPO:probinson]


Reduced circulating prolactin concentration


The onset of puberty before the age of 8 years in girls. [HPO:probinson]


Low gonadotropins (secondary hypogonadism)

Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.


A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION.


HYPOGLYCEMIA expressed in the postabsorptive state, after prolonged FASTING, or an overnight fast.


Reactive hypoglycemia
Low blood sugar after a meal

HYPOGLYCEMIA expressed after a meal or FOOD INTAKE. It is also called reactive or stimulative hypoglycemia.