Myocardial granulomatous infiltrates

description: The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.


Increased level of D-threitol in plasma

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: An increase in the level of D-threitol in the plasma.


Progressive forearm bowing

description: Progressive bending or abnormal curvature of the forearm skeleton.


Decreased urinary metaepinephrine level

description: The concentration of metanephrine in the urine, normalized for urine concentration, is below the lower limit of normal.


Abnormal sternum morphology

description: An anomaly of the sternum, also known as the breastbone.


Bracket epiphyses of the 3rd finger

description: An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


cerebral cavernous malformation 1

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.


Localized periodontitis

description: A localized form of periodontitis.


Absent distal phalanx of the 3rd toe

description: Developmental aplasia of the distal phalanx of third toe.


name: Focal cognitive seizure with forced thinking

description: A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.


name: Lymphocytic infiltration of the colorectal mucosa

description: Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.


name: Decreased platelet alpha-2A-adrenergic receptor

description: Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.


Short hard palate

description: Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).


Median pseudocleft lip

description: A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.


description: Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.


Hypoplastic labia majora

description: Undergrowth of the outer labia.


Urethrovesical occlusion

description: Blockage of the flow of urine from the bladder into the urethra.


Cerebral cortical microinfarct

description: An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions.


Excessive guilt

description: Guilt that is excessive in that it is based on an incorrect judgment (that one is responsible for a negative outcome) or is out of proportion to the committed offense.


name: Bracket epiphysis of the middle phalanx of the 5th finger

description: An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


Elongated radius

description: Increased length of the radius.


thyroid hemiagenesis

description: Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


Uhl anomaly

description: Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.


Acetabular erosions

description: Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint.


Abnormal lymphocyte physiology

description: Any anomaly of lymphocyte function.


name: Hepatic lipid-laden macrophage infiltration

description: Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the liver.


name: Focal substantia nigra T2 hyperintensity

description: Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.


Reduced prothrombin antigen

description: Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.


Longitudinal vaginal septum

description: The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.


Infancy onset short-trunk short stature

description: A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.


name: Triangular epiphyses of the proximal phalanges of the hand


Ureteral dysgenesis

description: A developmental anomaly of the ureter.


name: Abnormal urine alpha-ketoglutarate concentration

description: A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.


Recurrent paroxysmal headache

description: Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.


Focal aware bilateral motor seizure

description: A type of focal bilateral motor seizure during which awareness is fully retained throughout.


Small epiphyses of the 2nd finger

description: Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms.


name: Abnormal glossopharyngeal nerve morphology

description: Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).


Fractured skull

description: A partial or complete breakage of the skull.


Esophageal web

description: Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).


name: Abnormal arcuate artery lumen morphology

description: Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.


name: Triangular epiphysis of the middle phalanx of the 3rd toe


Limited head nodding or shaking

description: Absence or reduction in the use of head nodding to indicate "yes" or head shaking to indicate "no".


name: central nervous system infectious disorder

description: An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.


Abnormal pulmonary lymphatics

description: An abnormality of the pulmonary lymphatic chain.


name: Proximal finger joint hyperextensibility


Abnormal foramen magnum morphology

description: Any abnormality of the foramen magnum.


Fibular overgrowth

description: Relatively increased growth of the fibula compared to that of the tibia.


Periauricular skin pits

description: Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.


Non-restorative sleep

description: Perception of feeling unrefreshed after sleep.


Small acrosomal area

description: Reduction in size of the acrosome below the lower limit of normal. The acrosome is a unique membranous organelle located over the anterior part of the sperm nucleus. According to the World Health Organization criteria, the acrosome must be clearly visible, comprising approximately 40-70 percent of the sperm head.


Verrucous cell carcinoma of the tongue

description: A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.


Facial wrinkling

description: Excessive wrinkling of the skin of the face.


Truncal obesity

description: Obesity located preferentially in the trunk of the body as opposed to the extremities.


name: Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level

description: The amount of 2,3-dihydroxy-2-methylbutanoic acidin the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormality of molar

description: An abnormality of molar tooth.


Plantar flexion contracture

description: A type of contracture in which the plantar flexion muscles are contracted.


Fallopian tube torsion

description: 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.


Pulmonary hypertensive crisis

description: Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output.


Atypical absence status epilepticus

description: Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.


allesthesia

description: A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.


Iliac horns

description: 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.


name: Ivory epiphysis of the distal phalanx of the 4th toe


Abnormal uterine cervix morphology

description: An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.


Abnormality of primary teeth

description: Any abnormality of the primary tooth.


Absent antihelix

description: No discernible ridge between concha and triangular fossa and helix.


Fast-growing nails

description: Nails whose growth is quicker than normal.


Porcelain gallbladder

description: Porcelain gallbladder refers to the condition in which the inner gallbladder wall is encrusted with calcium. The wall becomes brittle, hard, and often takes on a bluish hue. It is usually found incidentally on plain abdominal x-rays or other imaging because most patients are asymptomatic.


Abnormal cerebral vein morphology

description: An anomaly of cerebral veins.


Abnormal exteroceptive sensation

description: A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.


name: Osteolytic defects of the middle phalanx of the 2nd toe


Abnormality of venous physiology

description: An anomaly of venous function.


name: Abnormal circulating insulin concentration

description: An abnormal concentration of insulin in the body.


Positional foot deformity

description: A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.


Renal arteriole intima/media hyalinosis

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis.


deep seated dermatophytosis

description: A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.


Wide distal femoral metaphysis

description: Increased width of the distal part of the shaft (metaphysis) of the femur.


name: Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Focal aware emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.


name: Renal arteriole foam cell endoarterial hypercellularity

description: A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.


Decreased sensitivity to hypoxemia

description: Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.


Abnormal number of incisors

description: The presence of an altered number of the incisor teeth.


Aplasia/hypoplasia of the humerus

description: Absence (due to failure to form) or underdevelopment of the humerus.


Calcium oxalate nephrolithiasis

description: The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.


Developmental stagnation

description: A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.


Hot cross bun sign

description: A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).


name: Abnormality of the epiphysis of the distal phalanx of the hallux


Brittle hair

description: Fragile, easily breakable hair, i.e., with reduced tensile strength.


name: Elevated circulating 3-hydroxyisovalerylcarnitine concentration

description: Concentration of 3-hydroxyisovalerylcarnitine in the blood circulation above the upper limit of normal.


name: Aplasia/hypoplasia of proximal toe phalanx

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the toe.


neurofibrosarcoma

description: A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)


Dandy-Walker syndrome

description: Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.


name: Increased level of myristic acid in serum

description: An increase in the level of myristic acid in the serum.


cleft lip/palate

description: Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.


name: Focal aware head nodding automatism seizure

description: A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.


name: Elevated circulating uroporphyrin concentration

description: Concentration of uroporphyrin in the blood circulation above the upper limit of normal.


Aplastic/hypoplastic toenail

description: Absence or underdevelopment of the toenail.


Cervical kyphosis

description: Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.


name: Confluent hyperintensity of cerebral white matter on MRI

description: Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.


Excessive salivation

description: Excessive production of saliva.


Posteriorly rotated ears

description: A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).


Hepatic foam cells

description: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver.


name: Bracket epiphysis of the proximal phalanx of the thumb

description: An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


Abnormal vertebral pedicle morphology

description: Abnormal morphology of a vertebral pedical.


name: Abnormality of the distal phalanges of the toes


Abnormal cardiac catheterization

description: Abnormal results from the diagnostic tests resulting from cardiac catheterization.


Cerebellar granular layer atrophy

description: Atrophy of the cerebellum affecting primarily the granular cell layer.


Absent proximal phalanx of the 3rd toe

description: Absence of proximal phalanx of third toe, owing to a congenital defect of development.


name: Focal impaired awareness autonomic seizure with piloerection

description: A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.


Fingerpad telangiectases

description: Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.


Short chin

description: Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.


name: Elevated circulating homovanillic acid concentration

description: The concentration of homovanillic acid in the blood circulation is above the upper limit of normal.


Pulmonary xanthomatosis

description: Lipid deposits localized within the lung. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


name: Anomalous origin of right coronary artery from the pulmonary artery

description: Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.


name: Fragmentation of the epiphysis of the distal phalanx of the 3rd toe


Acromicria

description: Small hands and feet in proportion to the rest of the body.


name: Agenesis of permanent mandibular central incisor

description: Agenesis of lower secondary incisor.


Weak grip

description: Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand.


Flared iliac wing

description: Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.


Flat distal femoral epiphysis

description: An abnormal flattening of the distal epiphysis of femur.


Enlarged peripheral nerve

description: Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.


Proximal lower limb amyotrophy

description: Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.


Expressive language delay

description: A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.


Honeycomb lung

description: 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.


Hypoplasia of right ventricle

description: Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.


Intellectual disability, severe

description: Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.


flatfoot

description: An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground.


holoprosencephaly 1

description: 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.


Hypoleucinemia

description: Decreased amount of leucine in the blood.


Increased intestinal transit time

description: An increase in the length of time required for food to pass through the intestines.


name: Symphalangism affecting the phalanges of the 3rd toe


Absent metatarsal bone

description: A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.


name: Increased aromatic amino acid level in urine

description: An elevated level of an aromatic amino acid in the urine.


tricuspid valve prolapse

description: Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus.


name: Decreased circulating 17-hydroxyprogesterone concentration

description: Concentration of 17-hydroxyprogesterone in the blood circulation below the lower limit of normal.


Cor triatrium sinister

description: A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.


Mental deterioration

description: Loss of previously present mental abilities, generally in adults.


Partial hyposmia

description: Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).


name: Osteolytic defects of the phalanges of the 2nd finger


Olfactory sensory seeking

description: Pursuit of specific scents, smells, or fragrances that is abnormal in intensity and/or frequency.


Diffuse cerebral atrophy

description: Diffuse unlocalised atrophy affecting the cerebrum.


Abnormal facial artery morphology

description: Any structural abnormality of a facial artery, one of the branches of the external carotid artery.


Arteriovenous malformation of the lip

description: A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.


Renal tubular epithelial lipofuscin

description: Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.


isolated Pierre-Robin syndrome

description: Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.


Impaired temperature sensation

description: A reduced ability to discriminate between different temperatures.


Broad finger

description: Increased width of a non-thumb digit of the hand.


name: Elevated circulating fibroblast growth factor 23 concentration

description: The concentration of fibroblast growth factor 23 in the blood circulation is above the upper limit of normal.


name: Delayed scintigraphic gallbladder filling

description: Hepatobiliary scintigraphy is a nuclear imaging technique that permits evaluation of the liver and biliary system for acute and chronic cholecystitis, biliary atresia, biliary obstruction, and post-surgical biliary leak. With this investigation, a radiotracer is administered intravenously, bound to albumin, transported to the liver, and excreted into the biliary system. This term refers to a longer than normal time for the radiotracer to be visualized in the gallbladder. This finding may be a sign of chronic gallbladder disease or partial obstruction of the common bile duct.


name: Bullet-shaped distal phalanx of the thumb

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected.


Elevated urinary prostaglandin E2 level

description: An increased amount of prostaglandin E2 in the urine.


name: Abnormality of the epiphyses of the distal phalanx of finger

description: Any anomaly of distal epiphysis of phalanx of finger.


Dystrophic fingernails

description: The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.


name: Enlarged epiphysis of the distal phalanx of the 3rd finger

description: Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.


Abnormal duodenum morphology

description: An abnormality of the duodenum, i.e., the first section of the small intestine.


Elevated transferrin saturation

description: An above normal level of saturation of serum transferrin with iron.


Abnormal pleura morphology

description: An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.


Elevated CSF cholestanol concentration

description: The concentration of cholestanol in the cerebrospinal fluid (CSF) is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.


Anti-H2A antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H2A.


name: Reduced left ventricular endsystolic diameter

description: A lower than normal left ventricular endsystolic diameter.


Partial albinism

description: Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.


Cleft in skull base

description: A bony defect in the skull base.


5-oxoprolinase deficiency

description: 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.


Frontal cutaneous lipoma

description: Presence of a cutaneous lipoma on the forehead.


Bifid clitoris

description: Two clitorides located side by side.


Hypovalinemia

description: A decreased amount of valine in the blood.


Left unilambdoid synostosis

description: Premature synostosis of only the left lambdoid suture.


Rhizomelic arm shortening

description: Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).


name: Fatiguable weakness of proximal limb muscles

description: A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Impaired fasting glucose

description: Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG.


name: Abnormal left ventricular endsystolic diameter

description: A deviation from the normal range of the left ventricular endsystolic diameter.


Hepatolithiasis

description: The presence of gallstones within the intrahepatic bile ducts proximal to the right and left hepatic ducts.


Anti-laminin gamma1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1.


Patulous urethra

description: Urethra more open or expanded than normal.


Embryonal renal neoplasm

description: The presence of an embryonal neoplasm of the kidney that primarily affects children.


name: Irregular epiphysis of the 1st metatarsal


Posterior pituitary agenesis

description: Absence of the neurohypophysis owing to a developmental defect.


Asymmetry of the mandible

description: Lack of symmetry between the left and right mandible.


Hypoplastic tricuspid valve

description: Congenital defect characterized by underdevelopment of the tricuspid valve.


Agenesis of molar

description: Agenesis of molar tooth.


name: Synostosis of the proximal phalanx of the hallux with the 1st metatarsal


2-hydroxyglutarate aciduria

description: The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Shoulder muscle aplasia

description: Absence of shoulder muscles.


name: Early progressive calcific cardiac valvular disease


holoprosencephaly

description: Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.


Polyclonal elevation of circulating IgA

description: A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.


Broad humeral epiphyses

description: Increased width of the humeral epiphysis.


Preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a premature infant.


Hypermagnesiuria

description: An increased concentration of magnesium the urine.


Abnormal pancreas size

description: A deviation from the normal size of the pancreas.


Cryptotia

description: Invagination of the superior part of the auricle under a fold of temporal skin.


Aplasia/Hypoplasia of the thyroid gland

description: Absence or underdevelopment of the thyroid gland.


Atrophic pituitary gland

description: Partial or complete wasting (loss) of the pituitary gland.


Renal interstitial calcium oxalate

description: The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.


Music-induced seizure

description: Seizure precipitated by listening to music or other complex sounds.


Thinned small intestinal mucosa

description: Abrnormal reduction in the height of the mucosa of the small intestine. The mucosa is arranged in regular circular folds (the circular valves of Kerckrin), the mucosal surface is covered with small projections called villi, which are slender, about 1.5-2 mm long projections of the mucosa into the lumen. In between the villi are the crypts. This term refers to a pathological thinning of these structures.


Appendicular hypotonia

description: Muscular hypotonia of one or more limbs.


Radial metaphyseal irregularity

description: Irregularity of the normally smooth surface of the metaphysis of the radius.


Hypoplastic scapulae

description: Underdeveloped scapula.


Hypocalcemic tetany

description: Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.


name: Anti-phosphatidic acid antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid.


name: Cone-shaped epiphysis of the middle phalanx of the 5th toe


Early inspiratory crackles

description: Crackles that appear at the beginning of inspiration and end before mid-inspiration.


Abnormal toenail morphology

description: An anomaly of the toenail.


Antisperm antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against sperm antigens.


hereditary geniospasm

description: Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.


postaxial polydactyly type A

description: Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.


name: Soft-tissue ossification around the shoulders

description: Formation of calcified tissue in the soft tissues surrounding the shoulder.


Abnormal urinary purine level

description: Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.


Type 2 schizencephaly

description: A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other.


name: Hepatic melanin-like lysosomal pigmentation

description: Accumulation of dark, coarsely granular pigment localized in lysosomes of centrilobular hepatocytes.


Dibasicaminoaciduria

description: An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).


Impaired two-point discrimination

description: A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.


Anti-p53 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53.


name: Anomalous origin of the right common carotid artery from the aorta

description: The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.


Eosinophilic gallbladder infiltration

description: Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.


name: Stippling of the epiphysis of the proximal phalanx of the 2nd toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe.


Scheuermann disease

description: A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.


Tactile sensory seeking

description: Pursuit of a specific texture that is abnormal in intensity and/or frequency.


name: Aplasia/Hypoplasia of the fallopian tube

description: Aplasia or developmental hypoplasia of the fallopian tube.


Focal cortical dysplasia type Ia

description: A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.


Dilatation of celiac artery

description: Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.


Sleep myoclonus

description: Myoclonus that occurs during the initial phases of sleep.


Broad 2nd toe

description: A broad appearance of the second toe.


Premature pubarche

description: The onset of growth of pubic hair at an earlier age than normal.


Anti-HLA-A IgG3 antibody positivity

description: The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Small trapezoid bone

description: Underdevelopment of the trapezoid.


Absent brainstem auditory responses

description: Lack of measurable response to stimulation of auditory evoked potentials.


Abnormality of blood circulation

description: An abnormality of blood circulation.


name: Elevated circulating alpha-oxoadipic acid concentration

description: Concentration of alpha-oxoadipic acid in the blood above the upper limit of normal.


name: Sclerosis of the distal phalanx of the 4th finger


Patchy sclerosis of distal toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Abnormal subcutaneous fat tissue distribution


Hypoplastic left atrium

description: Underdeveloped, small left heart atrium


Pallidal degeneration

description: Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.


description: Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal).


name: Multiple muscular ventricular septal defects

description: A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.


Fragile teeth

description: A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.


Delusional memory

description: A delusional interpretation of a normal memory.


Hypoplasia of the frontal bone

description: Underdevelopment of the frontal bone.


Hyperechogenic kidneys

description: An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.


name: Irregular epiphysis of the distal phalanx of the 5th finger

description: Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger.


Screwdriver-shaped incisors

description: An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.


Tubular shadows

description: Tubular shadows are characterized by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization.


name: Increased urinary transitional epithelial cell count

description: An increased number of transitional epithelial cells per high-power field in urinanalysis.


cholesteatoma

description: A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.


Abnormal temporal bone morphology

description: Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.


Decreased CSF leucine concentration

description: Abnormally decreased levels of leucine in the cerebrospinal fluid.


autoimmune hypoparathyroidism

description: An autoimmune form of hypoparathyroidism.


Absent hallux epiphysis

description: Failure to form (agenesis) of one or more epiphyses of the big toe.


name: Oligoclonal elevation of circulating IgG

description: An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


name: Elevated CSF chitinase-3-like protein 1 concentration

description: Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.


Lip tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting the lip.


Hippocampal malrotation

description: Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus.


Duplication of renal pelvis

description: A duplication of the renal pelvis.


absence of the pulmonary artery

description: A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension.


Increased urinary sedoheptulose

description: An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.


Urinary space collagenization

description: Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft.


name: inherited glutathione synthetase deficiency

description: Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.


Forearm supination contracture

description: A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.


Underfolded helix

description: Underdevelopment of the helix that either affects the entire helix, or is localized.


Normal interictal EEG

description: Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.


name: Type 1 congenital pulmonary airway malformation

description: A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst.


Nephrotic range proteinuria

description: Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.


Abnormal cerumen color

description: An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.


Oppenheim reflex

description: Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).


Abnormal septum pellucidum morphology

description: An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.


Eruption failure

description: A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.


Postprandial fullness

description: Feeling excessively full after meals.


name: Enlarged epiphysis of the distal phalanx of the 2nd finger

description: Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.


name: Reduced erythrocyte free porphyrin concentration

description: Concentration of porphyrin in erythrocytes below the lower limit of normal.


Lack of T cell function

description: Complete inability of T cells to perform their functions in cell-mediated immunity.


Binucleated visceral epithelial cells

description: Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.


chronic idiopathic urticaria

description: Chronic form of idiopathic urticaria.


name: Aplasia/Hypoplasia of the phalanges of the 5th toe


Elevated brain lactate level by MRS

description: An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).


name: Abnormality of the epiphysis of the distal phalanx of the 5th finger

description: Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.


Reduced von Willebrand factor activity

description: Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.


External carotid artery dissection

description: A separation (dissection) of the layers of the external carotid artery wall.


Venom allergy

description: Hypersensitivity in form of an adverse immune reaction against insect venom.


name: Abnormal circulating carnitine concentration

description: Any deviation from the normal concentration of carnitine in the blood circulation.


Abnormality of the philtrum

description: An abnormality of the philtrum.


Abnormality of inferior alveolar nerve

description: An abnormality of an inferior alveolar nerve.


Central nail canal

description: The presence of a depressed line ("canal") in the center of the nail.


Elevated urinary 2-hydroxybutyric acid

description: An increased amount of 2-hydroxybutyric acid in the urine.


name: Absent epiphysis of the distal phalanx of the 5th finger

description: Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.


name: Rhomboid or triangular shaped 5th finger proximal phalanx

description: Rhomboid or triangular shaped 5th (little) finger proximal phalanx.


name: Small epiphysis of the proximal phalanx of the 4th finger

description: Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.


Proximal placement of hallux

description: Proximal mislocalization of the big toe from its normal position.


name: Abnormal circulating copper concentration

description: An abnormal concentration of copper.


Abnormal right ventricle morphology

description: An abnormality of the right ventricle of the heart.


name: atrial septal defect, coronary sinus type

description: A developmental defect in which the coronary sinus fails to form.


name: Elevated circulating uracil concentration

description: Concentration of uracil in the blood circulation is above the normal range.


Adrenocortical hyperplasia

description: A non-malignant growth, or enlargement, of the adrenal glands, specifically the cortex, although the cortex cannot be definitively identified by conventional imaging. Adrenal cortical hyperplasia is defined radiologically as a non-malignant growth, or enlargement, of the adrenal glands.


Anti-ribosome Po antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po.


Absent radius

description: Missing radius bone associated with congenital failure of development.


Anti-thyroid antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against one or more components on the thyroid.


name: Lateral displacement of the femoral head

description: A developmental anomaly with lateral displacement of the femoral head.


Focal T2 hyperintense thalamic lesion

description: A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.


name: Anomalous coronary artery arising from the opposite sinus

description: Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.


Overjet

description: An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.


Intestinal lymphedema

description: Fluid retention and edema in the intestine caused by a compromised lymphatic system.


Non-spinning vertigo

description: A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving).


CSF mycobacteria

description: Mycobacterium present in the cerebrospinal fluid (CSF). This feature can be ascertained by CSF microscopy.


name: Abnormal cerebral venous sinus morphology

description: Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins.


Spontaneous hematomas

description: Spontaneous development of hematomas (hematoma) or bruises without significant trauma.


name: Subluxation of the small joints of the hand

description: A partial dislocation of some or all of the small joints of the hand.


Hypoplasia of proximal fibula

description: Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.


Abnormality of the pylorus

description: An abnormality of the pylorus.


Irregular epiphyses of the metacarpals

description: Irregular radiographic opacity of the epiphyses of the metacarpals.


Focal neonatal sequential seizure

description: Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.


Tessier number 6 facial cleft

description: A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.


EEG with abnormally slow frequencies

description: EEG with abnormally slow frequencies.


Severe intrauterine growth retardation

description: Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.


Abnormal thoracic duct morphology

description: Any structural anomaly of the thoracic duct.


name: Abnormality of cardiovascular system electrophysiology

description: An anomaly of the electrical conduction physiology of the heart.


carotid artery dissection

description: Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.


Compression-fractured vertebra

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


Low-set, posteriorly rotated ears

description: Ears that are low-set and posteriorly rotated.


name: Stippling of the epiphysis of the middle phalanx of the 2nd finger


Abnormality of the anterior commissure

description: An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.


name: Abnormality of the distal phalanx of the 4th toe


name: Aplasia/Hypoplasia of the phalanges of the hand

description: Small or missing phalangeal bones of the fingers of the hand.


Increased circulating galectin-3 level

description: An increased circulation of galectin-3 in the blood circulation.


fibromuscular dysplasia

description: A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.


Abnormally increased motivation

description: An excessive increase in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. It also includes an excessive increase in non goal-directed movement or activity.


name: Absent epiphysis of the proximal phalanx of the 5th finger

description: Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.


Facial hirsutism

description: Excess facial hair.


name: Focal aware cognitive seizure with dysgraphia/agraphia

description: A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.


Hyporeflexia of upper limbs

description: Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.


name: Reduced sympathoneural responses to the cold pressor test

description: Response to the cold pressor test below the lower limit of normal. The cold pressor test is a simple and validated test in which the subject immerses one hand or foot into ice water for 1 to 3 minutes while blood pressure (BP) and heart rate are monitored. The cold stimulus activates afferent sensory pathways that, in turn, trigger a sympathetic response resulting in an increase in BP.


Diverticulosis of trachea

description: Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical).


Absent mesencephalon

description: Agenesis of the midbrain.


Aortic arch aneurysm

description: An abnormal localized widening (dilatation) of the aortic arch.


Anti-factor VII antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against factor VII.


name: Patchy sclerosis of the distal phalanx of the 5th finger

description: Patchy increase in bone density of the distal phalanx of the 5th finger.


Straddling atrioventricular valve

description: Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.


familial dysfibrinogenemia

description: Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.


Radial head subluxation

description: Partial dislocation of the head of the radius.


name: Tetralogy of Fallot with absent subarterial conus


Curved middle phalanx of the 5th finger

description: Curved appearance of the middle phalanx of the 5th finger.


Hyperhomocystinemia

description: An increased concentration of homocystine in the blood.


Solitary angiokeratoma

description: A dark, keratotic papule about 2-10 mm in diameter, usually occuring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage.


name: Abnormal morphology of the proximal phalanx of the 5th toe


osteoma

description: A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course.


name: Posterior predominant subcortical band heterotopia

description: Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.


hyperkeratosis lenticularis perstans

description: 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.


CSF infectious agent

description: The presence of an infectious agent in the cerebrospinal fluid (CSF).


name: Patent ductus arteriosus after premature birth

description: Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.


Diffuse hepatic steatosis

description: A diffuse form of hepatic steatosis.


Hypothalamic gliosis

description: Focal proliferation of glial cells in the hypothalamus.


name: Stippling of the epiphysis of the proximal phalanx of the thumb

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Molar tooth sign on MRI

description: An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.


name: Decreased proportion of unswitched memory B cells

description: A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.


name: Renal tubular basement membrane denudation

description: Naked basement membranes without tubular epithelium.


name: Decreased circulating myo-inositol concentration

description: Concentration of myo-inositol in the blood circulation below the lower limit of normal.


Sclerosis of 4th toe phalanx

description: An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Abnormal facial shape

description: An abnormal morphology (form) of the face or its components.


monostotic fibrous dysplasia

description: Fibrous dysplasia of bone involving only one bone.


Short middle phalanx of the 4th finger

description: Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.


name: Abnormality of the epiphysis of the distal phalanx of the 4th finger


name: Malformation of the hepatic ductal plate


Posterior communicating artery aneurysm

description: A widening (ballooning) localized in the wall of the posterior communicating artery.


name: Fractured epiphysis of first metatarsal bone

description: A partial or complete breakage of the epiphysis of first metatarsal bone.


nonsyndromic congenital nail disorder 4

description: Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.


Focal non-motor seizure

description: A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation.


name: Partial duplication of the proximal phalanx of the 5th toe

description: Partial duplication of the proximal phalanx of fifth toe.


non-immune hydrops fetalis

description: Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.


Abnormal circulating androgen level

description: An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.


Hirano bodies

description: Intracellular aggregates of actin and actin-associated proteins within nerve cells.


Intratesticular abscess

description: A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.


vitamin A deficiency

description: Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.


Increased B cell count

description: An abnormal increase from the normal count of B cells.


name: Reduced circulating fibroblast growth factor 23 concentration

description: The concentration of fibroblast growth factor 23 in the blood circulation is below the lower limit of normal.


Abnormal skeletal muscle morphology

description: A structural abnormality of a skeletal muscle.


Abnormal respiratory system morphology

description: A structural anomaly of the respiratory system.


Misalignment of incisors

description: Misaligned incisor.


Gustatory hallucination

description: Perception of taste without gustatory stimulus.


Aortic laminar medial collapse

description: Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.


progressive myoclonus epilepsy

description: A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.


name: Focal aware cognitive seizure with memory impairment

description: A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.


Tracheal tug on inspiration

description: Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.


Patchy sclerosis of finger phalanx

description: Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.


Wilms tumor

description: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.


xanthinuria

description: A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.


Prolonged Russell's viper venom time

description: Increased time to coagulation in the Russell's viper venom assay


Abnormal arm span

description: A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)


Gastric neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the stomach.


name: Renal tubular epithelial cell detachment

description: Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.


name: Elevated circulating linoleylcarnitine concentration

description: Increased concentration of linoleylcarnitine in the blood circulation.


name: Focal aware emotional seizure with paranoia

description: Focal emotional seizure with paranoia in which awareness is retained throughout.


name: Decreased circulating apolipoprotein C-II concentration

description: Reduced concentration of apolipoprotein C-II in the blood circulation.


Sensory behavioral abnormality

description: Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli.


Beta-EEG

description: EEG dominated by diffuse beta-waves (>13 Hz).


Abnormal 4th metacarpal morphology

description: Any abnormality of the fourth metacarpal bone.


name: Abnormal glomerular capillary lumen morphology

description: Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.


name: Periventricular white matter hypodensities

description: Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.


name: Pseudoepiphyses of the distal phalanges of the hand

description: A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Microvesicular hepatic steatosis

description: A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.


Flattened metacarpal heads

description: Abnormally flat shape of the heads of the metacarpal bones.


name: Enlarged epiphysis of the proximal phalanx of the 5th finger

description: Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.


name: Elevated CSF D-glyceric acid concentration

description: The concentration of D-carboxylic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


bone osteosarcoma

description: A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.


name: Abnormal circulating glutamine concentration

description: Any deviation from the normal concentration of glutamine in the blood circulation.


name: Abnormal circulating phospholipid concentration

description: Any deviation from the normal concentration of a phospholipid in the blood circulation.


hypoplastic left heart syndrome

description: Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.


Absent urinary urothione

description: Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.


Enteric neuronal degeneration

description: Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.


name: Osteolytic defects of the middle phalanx of the 2nd finger

description: Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.


name: Small epiphysis of the distal phalanx of the thumb

description: Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.


name: Elevated circulating dodecenoylcarnitine concentration

description: An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.


Esophageal food impaction

description: A piece of food that has gotten stuck in the esophagus and prevents further swallowing.


name: Thickened glomerular basement membranes with no electron dense deposits

description: Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.


Recurrent viral pneumonia

description: Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.


Aplasia/Hypoplasia of the radius

description: A small/hypoplastic or absent/aplastic radius.


name: Cauliflower deformity of dermal collagen fibrils

description: An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.


Fractured phalanx

description: A partial or complete breakage of the phalanx.


Abnormality of the gallbladder

description: An abnormality of the gallbladder.


Multiple carpal ossification centers

description: A delay in the process of formation and maturation of the epiphysis of one or more long bones.


Increased urinary thiosulfate

description: Increased concentration of thiosulfate(2-) in the urine.


Submucous cleft hard palate

description: Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.


Absent internal auditory canal

description: Aplasia of the internal auditory canal.


name: Elevated urine 3,6-epoxydicarboxylic acid level

description: The concentration of 3,6-epoxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Anti-laminin 6 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6.


Increased CSF glycine concentration

description: Abnormally increased levels of glycine in cerebrospinal fluid.


name: Symphalangism affecting the proximal phalanx of the 3rd finger

description: Fusion of the proximal phalanx of the 3rd finger with another bone.


Polysyndactyly of hallux

description: Combined syndactyly and polydactyly of the great toe.


Congenital shortened small intestine

description: Substantially shortened length of the small intestine as a result of a developmental defect.


Yellow papule

description: A papule with yellow color.


Impaired binding of factor VIII to VWF

description: Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.


name: Reduced renal corticomedullary differentiation

description: Reduced differentiation between renal cortex and medulla on diagnostic imaging.


Abnormal CNS myelination

description: An abnormality of myelination of nerves in the central nervous system.


name: Anti-centromere protein B antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B.


Paroxysmal supraventricular tachycardia

description: An episodic form of supraventricular tachycardia with abrupt onset and termination.


name: Abnormal left ventricular end-diastolic volume

description: Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).


name: Elevated circulating methylsuccinic acid concentration

description: Increased concentration of methylsuccinic acid in the blood circulation.


name: Complete duplication of the middle phalanx of the 3rd finger

description: Complete duplication of the middle phalanx of middle finger.


Abnormal nervous system morphology

description: A structural anomaly of the nervous system.


Pseudoepiphysis of the 5th metacarpal

description: The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


name: Abnormal circulating amino acid concentration

description: The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.


name: Abnormal proximal phalanx morphology of the hand


bilateral polymicrogyria

description: Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.


Decreased platelet glycoprotein VI

description: Decreased cell membrane concentration of glycoprotein VI.


name: Radial deviation of the hand or of fingers of the hand


Excessive hand washing

description: Hand washing behavior that is excessive for the situational context.


Abnormality of urine bicarbonate level

description: An abnormal amount of hydrogencarbonate in the urine.


Simple febrile seizure

description: A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.


Fused labia minora

description: Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.


description: A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.


Increased serum bile acid concentration

description: An increase in the concentration of bile acid in the blood.


Laryngeal cartilage malformation

description: A malformation of the laryngeal cartilage.


name: Increased LH response to gonadotropin-releasing hormone stimulation test

description: An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.


name: Abnormal morphology of female internal genitalia

description: An abnormality of the female internal genitalia.


Abnormal carpal morphology

description: An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).


Biceps areflexia

description: Inability to elicit biceps tendon reflex.


Duodenal polyposis

description: Presence of multiple polyps in the duodenum.


name: Abnormality of the epiphysis of the middle phalanx of the 3rd toe


Absent paranasal sinuses

description: Aplasia of the paranasal sinuses.


Block vertebrae

description: Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).


language disorder

description: A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect.


Eye poking

description: Repetitive pressing, poking, and/or rubbing in the eyes.


Steroetypic upper-extremity movements

description: Abnormal movements of the upper extremities.


Anti-GABA(A)R antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R.


name: Focal aware cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.


name: Impaired visuospatial constructive cognition

description: Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).


Temporal lobe dysplasia

description: A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations.


name: Inactivating thyroid-stimulating hormone receptor defect

description: Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.


Obliteration of the calvarial diploe

description: Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).


Elevated urinary carboxylic acid

description: An increased amount of carboxylic acid in the urine.


Multifocal neonatal sequential seizure

description: Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.


Short greater sciatic notch

description: The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.


name: Tubular basement membrane disintegration

description: DIsruption and breaking up of the basement membrane of the tubules of the kidney.


Heliotrope rash

description: In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.


Third cranial nerve hypoplasia

description: Underdevelopment of the third cranial nerve (oculomotor nerve).


name: Reduced CSF pyridoxal-5'-phosphate concentration

description: The concentration of pyridoxal-5'-phosphate in the cerebrospinal fluid (CSF) is below the lower limit of normal.


name: Increased circulating adrenic acid concentration

description: An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.


Placental mesenchymal dysplasia

description: Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.


name: Hypokalemic hypochloremic metabolic alkalosis


Arachnodactyly

description: Abnormally long and slender fingers ("spider fingers").


Fungal hyphae in sputum

description: Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum.


Widely patent sagittal suture

description: The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed.


Femoral artery duplication

description: A developmental defect characterized by the presence of a supernumerary femoral artery.


Interlobular vein intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.


name: Abnormal distribution of CD56 bright/dim natural killer cells

description: An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.


name: Aplasia/Hypoplasia of the proximal phalanx of the 4th finger


Congenital lactic acidosis

description: A form of lactic acidemia with congenital onset.


Flared radial metaphysis

description: The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.


Collagenoma

description: A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited.


name: Increased circulating creatine kinase MB isoform

description: An increased concentration of the MB isoform of creatine kinase in the blood circulation.


Posteriorly placed anus

description: Posterior malposition of the anus.


Tympanic membrane bulging

description: The tympanic membrane protrudes (swells outwards). This feature may be observed with otoscopy.


Increased carrying angle

description: An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.


Skin dimple

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


Abnormality of the neck

description: An abnormality of the neck.


shoulder impingement syndrome

description: Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)


name: Irregular epiphysis of the middle phalanx of the 3rd finger

description: Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger.


Small epiphyses of the 4th finger

description: Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms.


Short 5th finger

description: Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.


Triceps hyporeflexia

description: Reduced intensity of the triceps tendon reflex.


Abnormality of the sublingual glands

description: Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.


Hypoplastic distal humeri

description: Underdevelopment of the distal portion of the humerus.


name: Abnormal circulating thyroxine-binding globulin concentration

description: Any deviation from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.


name: Irregular epiphyses of the phalanges of the hand

description: Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.


Diminishment of social interactions

description: A reduction in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.


name: Abnormal circulating luteinizing hormone concentration

description: An anomaly of the circulating level of luteinizing hormone (LH).


Abnormal cranial nerve physiology

description: A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.


Spinal cord granuloma

description: An aggregation of macrophages (forming in response to chronic inflammation) localized in or on the spinal cord.


name: Abnormality of the musculature of the lower limbs


Short 2nd toe

description: Underdevelopment (hypoplasia) of the second toe.


Abnormal liver physiology

description: Any functional anomaly of the liver.


Positive Murphy sign

description: Murphy's sign is elicited in patients with acute cholecystitis by asking the patient to take in and hold a deep breath while palpating the subcostal region. In practice, Murphy's sign is performed by palpating the subcostal region during inspiration. If pain is elicited and the patient suddenly stops their inspiratory effort, a positive Murphy's sign has been elicited.


lymphatic vessel neoplasm

description: A benign or malignant neoplasm arising from the lymphatic vessels.


Palmar pruritus

description: 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.


Reduced awareness of convention

description: Reduced awareness of expected conventions, which are normal and expected for particular social settings or interactions.


name: Pseudoepiphysis of the distal phalanx of the 3rd finger

description: A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


name: Fibrillary glomerular subepithelial deposits

description: A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Aphthous ulcer

description: Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.


name: Cortical diaphyseal thickening of the upper limbs


Anti-hY-RNA complex antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60.


Absence seizure with eyelid myoclonia

description: An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure.


Tapered toe

description: The gradual reduction in girth of the toe from proximal to distal.


name: Abnormality of the epiphysis of the 4th metacarpal

description: Any abnormality of the epiphysis of the 4th metacarpal bone.


name: Elevated brain guanidinoacetate level by MRS

description: An increase in the level of guanidinoacetate in the brain identified by magnetic resonance spectroscopy (MRS).


Widely spaced primary teeth

description: Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.


name: Elevated CSF L-2-hydroxyglutaric acid concentration

description: The concentration of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Adrenal cortical sclerosis

description: Abnormal thickening of of the outer layer (cortex) of the adrenal gland due to fibrosis.


Williams-Campbell syndrome

description: A congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing.


name: Elevated urinary succinyladenosine level

description: The amount of succinyladenosine in the urine, normalized for urine concentration, is above the upper limit of normal.


anorectal malformation

description: An abnormality of the anus or rectum.


Nail bed telangiectasia

description: Telangiectases in the area of the nails.


Hyperkeratotic papule

description: A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).


name: Stippling of the epiphysis of the proximal phalanx of the 2nd finger


Elevated circulating E selectin level

description: An increased concentration of E selectin in the blood circulation.


name: Sclerosis of the proximal phalanx of the 2nd finger


Aplasia of the uterus

description: Aplasia of the uterus.


Hemiatrophy

description: Undergrowth of the limbs that affects only one side.


name: Increased circulating thyroxine-binding globulin level

description: An elevated concentration of thyroxine-binding globulin (TBG) in the blood.


Abnormally low-pitched voice

description: An abnormal decrease in the pitch of the voice.


Abnormal tibia morphology

description: Abnormality of the tibia (shinbone).


Mixed cirrhosis

description: A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.


Limb ataxia

description: A kind of ataxia that affects movements of the extremities.


Renal tubular adenovirus inclusions

description: Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage.


name: Tongue-like lumbar vertebral deformities

description: A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.


Decreased urinary guanosine level

description: The amount of guanosine in the urine, normalized for urine concentration, is below the lower limit of normal. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond.


name: Intrauterine fetal demise of one twin after midgestation

description: Loss of one twin occurring after midgestation (17 weeks gestation).


name: Irregular epiphysis of the distal phalanx of the thumb

description: Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.


cleft soft palate

description: Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.


Olecranon fracture

description: A partial or complete break in the olecranon,which is the proximal articular portion of the ulna and makes up part of the elbow.


name: Increased urinary galactosylated oligosaccharide

description: An abnormal increase in the concentration of galactosylated oligosaccharides in urine.


name: Abnormal glomerular mesangial cellularity

description: Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.


Lipiduria

description: An increased lipid content in the urine.


Ichthyosis follicularis

description: Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.


alopecia universalis congenita

description: The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.


Ectopic gallstone

description: A gallstone located outside of the gallbladder.


name: Abnormal curvature of the vertebral column

description: The presence of an abnormal curvature of the vertebral column.


Abnormal libido

description: Any deviation from the normal sexual drive or desire for sexual activity.


Pontine ischemic lacunes

description: Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.


Shortening of all phalanges of the toes

description: Developmental hypoplasia (shortening) of all phalanges of the foot.


Absent glenoid fossa

description: Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.


Anti-insulin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against insulin.


Hypoplasia of the antihelix

description: Developmental hypoplasia of the antihelix.


Delayed adrenarche

description: Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.


Renal interstitial fibrosis

description: The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.


Inertia

description: Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).


Ascending tubular aorta aneurysm

description: An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.


sternal cleft

description: Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.


Intellectual disability, progressive

description: The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.