Abnormal hair pattern

description: An abnormality of the distribution of hair growth.


Reduced fetal femur/foot length ratio

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

description: This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors.


CNS foam cells

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


Pulmonary bulla

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


name: Elevated CSF chitotriosidase 1 concentration

description: Increased concentration of chitotriosidase 1 in cerebrospinal fluid.


Excess residual spermatozoal cytoplasm

description: Excess residual cytoplasm is associated with abnormal spermatozoa produced from a defective spermiation process. This abnormal excess cytoplasm should not be confused with more physiological cytoplasmic residues that can be observed in direct microscopy of the ejaculate but not in dried, fixed and stained morphology smears.


name: Elevated bronchoalveolar lavage fluid neutrophil proportion

description: Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.


name: Reduced proportion of CD4+ effector memory T cells

description: An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


name: Complete duplication of the distal phalanx of the 4th toe

description: Complete duplication of the distal phalanx of fourth toe.


Thalamic arteriovenous malformation

description: An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus.


Delayed myelination

description: Delayed myelination.


name: Triangular epiphysis of the distal phalanx of the 5th toe


Elevated urine 3-hydroxyglutaric level

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


Interhypothalamic adhesion

description: An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle.


Abnormal serum estriol

description: A deviation from normal concentration of estriol in the circulation.


name: Unilateral multifocal epileptiform discharges

description: Epileptiform discharges being identified at multiple locations in one hemisphere.


Enlarged labia minora

description: Increase in size of the folds of skin between the outer labia.


name: Bullet-shaped distal phalanx of the 3rd toe

description: An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Motor impersistence

description: The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.


Abnormal cranial nerve morphology

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


Blistering by histological location

description: Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa.


Craniofacial cleft

description: Congenital abnormality with cleft (gap or opening) in the craniofacial bones. Craniofacial cleft includes facial cleft, orofacial clef, and cleft of the jaw.


aceruloplasminemia

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

description: An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.


Abnormality of vitamin K metabolism

description: Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.


Elevated CSF dopamine concentration

description: Increased concentration of dopamine in the cerebrospinal fluid (CSF).


Sulfocysteinuria

description: A increased concentration of sulfocysteine in the urine.


name: Duplication of the distal phalanx of the 3rd toe

description: Partial or complete duplication of distal phalanx of third toe.


Recurrent bacterial meningitis

description: An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.


Hyponatriuria

description: An abnormally decreased sodium concentration in the urine.


Age of death

description: The age group when the cessation of life happens.


Hypomature enamel

description: Enamel with a white or brown discoloration without hypoplasia.


Subcutaneous hemorrhage

description: This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).


name: Focal impaired awareness autonomic seizure with pupillary dilation/constriction

description: A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.


Connective tissue nevi

description: Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.


name: Cortical radial artery lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


Right atrial enlargement

description: Increase in size of the right atrium.


name: Abnormal arcuate artery endothelium morphology

description: Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney.


Excessive dynamic airway collapse

description: Excessive anterior displacement of the tracheal and/or bronchial membranous wall.


Decreased platelet glycoprotein Ib-IX-V

description: Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.


Renal tubular karyomegaly

description: Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells.


Abnormal dermis morphology

description: A structural anomaly of the dermis, the layer of skin that lies beneath the epidermis and above the subcutaneous layer.


name: Complete duplication of the distal phalanx of the hallux


Abnormality of the cochlear nerve

description: Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe.


Jaw pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.


Elevated myocardial native T2

description: Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema.


obstructive hydrocephalus

description: An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space.


name: Impaired renal tubular reabsorption of phosphate

description: Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption.


Cystocele

description: Anterior vaginal wall prolapse with bulging of the bladder into the vagina.


Curved proximal phalanx of the 5th toe

description: A deviation from the normal straight form of the proximal phalanx of the fifth toe.


Bifid tongue

description: Tongue with a median apical indentation or fork.


Malrotation of small bowel

description: A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.


Pterygium of nails

description: Inward advance of skin over the nail plate.


Upper airway obstruction

description: Increased resistance to the passage of air in the upper airway.


Pronoun reversal

description: Atypical language features characterized by first vs. second or third person pronoun errors such as using 'you' or 'he/she' in place of 'I'.


Male anorgasmia

description: Inability of a male to reach orgasm.


glutaric aciduria

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


Increased density of long bones

description: An abnormal increase in the bone density of the long bones.


Anti-annexin-V antibody positivity

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


oral hairy leukoplakia

description: An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.


Tarsal stippling

description: The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.


name: Osteoarthritis of the small joints of the hand


Congenital defect of the pericardium

description: A developmental defect of the pericardium with congenital onset.


Infantile axial hypotonia

description: Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.


Convulsive status epilepticus

description: A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.


Ectopic ossification in ligament tissue

description: Formation of abnormal bony tissue within ligament tissue.


Maxillary cyst

description: A closed sac that has developed in the upper jaw bone (maxilla) and contains fluid or semi-solid material. Cystic lesions of the maxilla are benign entities with both odontogenic and non-odontogenic origins.


Impaired T cell function

description: Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.


name: Abnormal concentration of acylcarnitine in the urine

description: An abnormal amount of acylcarnitine in the urine.


name: Increased level of propylene glycol in blood

description: An increase in the level of propylene glycol in the blood.


Carotid artery calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery.


Receptive aphasia

description: A type of aphasia that is characterized by impaired language comprehension.


name: Symphalangism affecting the phalanges of the 5th toe


Neonatal electro-clinical seizure

description: Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.


Macronodular cirrhosis

description: A type of cirrhosis characterized by the presence of large regenerative nodules.


EMG: myokymic discharges

description: The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.


Scapular exostoses

description: The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.


Abnormal brainstem morphology

description: An anomaly of the brainstem.


name: Abnormal natural killer subset distribution

description: Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.


name: Elevated circulating granulocyte-macrophage colony-stimulating factor concentration

description: The concentration of granulocyte-macrophage colony-stimulating factor (GM-CSF) in the blood circulation is above the upper limit of normal.


name: Chronic partially decreased circulating IgG3

description: A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood.


Angioma serpentinum

description: Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.


Renal intratubular casts

description: Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast.


Camptodactyly of finger

description: The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.


name: Focal impaired awareness motor seizure with paresis/paralysis

description: A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure.


description: Decreased proportion of gamma-delta T cells relative to the total number of T cells.


hydroa vacciniforme

description: A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.


Multiple central nervous system lipomas

description: The presence of multiple lipomas located in the central nervous system.


Lack of bowel sounds

description: Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.


name: Stippling of the epiphysis of the proximal phalanx of the 3rd toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe.


Paroxysmal ventricular tachycardia

description: Episodes of ventricular tachycardia that have a sudden onset and ending.


Decreased T3/T4 ratio

description: A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.


Chylopericardium

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


Alpha-gal allergy

description: Hypersensitivity in form of an adverse immune reaction against alpha-gal.


Abnormal medullary pyramid morphology

description: A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.


Ivory epiphysis of the thumb

description: Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: Elevated urinary delta-aminolevulinic acid

description: An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.


Pulmonary bleb

description: A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.


Decreased urinary potassium

description: A decreased concentration of potassium(1+) in the urine.


Focal cortical dysplasia type IIa

description: A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.


name: Elevated circulating S-adenosyl-L-methionine concentration

description: Concentration S-adenosyl-L-methionine in the blood circulation above the upper limit of normal.


name: Reduced circulating insulin-like growth factor 2 concentration

description: The concentration of insulin-like growth factor 2 (IGF2) in the blood circulation is below the lower limit of normal. IGF2 is a peptide hormone regulating various cellular processes such as proliferation and apoptosis.


saccharopinuria

description: Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.


Multiple biliary hamartomas

description: Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.


Absence of the third cerebral ventricle

description: A developmental defect characterized by the absence of the third ventricle.


Abnormal temporal lobe morphology

description: An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres.


name: Bicuspid aortic valve with left-noncoronary cusp fusion

description: A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.


Increased level of allantoin in serum

description: An increase in the level of allantoin in the serum.


name: Aplasia/hypoplasia of the proximal phalanx of the 2nd toe

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe.


name: Elevated urinary 3-hydroxypentanoic acid level

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


femoral agenesis/hypoplasia

description: Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.


Focal aware epileptic spasm

description: A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.


Grandiosity

description: Exaggerated feelings of self-importance, superiority, uniqueness, or invulnerability.


Ketonuria

description: High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.


Hand polydactyly

description: A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.


Ectopic ossification in tendon tissue

description: Formation of abnormal bony tissue within tendon tissue.


Eyelid myokymia

description: Involuntary, fine, continuous, undulating contractions of the eyelid.


Cerebrospinal fluid erythrocytes

description: The presence of red blood cells (RBCs) in the cerebrospinal fluid (CSF). The CSF normally does not contain RBCs (erythrocytes).


Reduced social reciprocity

description: A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.


name: Impaired calcium ionophore-induced platelet aggregation

description: Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.


name: Abnormal circulating porphyrin concentration

description: An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.


Microcolon

description: A colon of abnormally small caliber.


Cortical radial artery hypercellularity

description: Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.


Midsystolic murmur

description: A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.


Phlebolith

description: A calcified structure that forms within a vein. The pathogenesis of phleboliths is thought to involve an organized thrombus produced when the peripheral blood flow slows. The thrombus calcifies, form- ing the core of the phlebolith. Then, the fibrinous com- ponent undergoes secondary calcification and becomes attached. Repetition of this process causes enlargement of the phlebolith.


Dens in dente

description: An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.


Reduced cooperative imaginative play

description: Failure of a child to engage with peers games that involve creating imaginary scenarios or narratives, for instance, in which children pretend to be characters or act out adventerous scenarios.


name: Reduced circulating acetylcarnitine concentration

description: Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation below the lower limit of normal. Acetylcarnitine has a two-carbon acyl chain.


Personality changes

description: An abnormal shift in patterns of thinking, acting, or feeling.


Thin upper lip vermilion

description: Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).


name: Osteolytic defects of the 1st metacarpal

description: Dissolution or degeneration of bone tissue of the 1st metacarpal.


Flexion contracture of finger

description: Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.


macrodactyly of toes

description: A type of Macrodactyly affecting one or several toes.


Bullet-shaped hallux phalanx

description: An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Acute cutaneous wound

description: A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin.


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


Unconjugated hyperbilirubinemia

description: An increased amount of unconjugated (indirect) bilurubin in the blood.


name: Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal


Transthyretin cardiac amyloidosis

description: A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.


Pes valgus

description: An outward deviation of the foot at the talocalcaneal or subtalar joint.


Renal medullary pyramid hypoplasia

description: Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.


fourth cranial nerve palsy

description: A cranial nerve palsy that involves the trochlear nerve.


name: Triangular shaped middle phalanges of the toes


Ureter fissus

description: A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.


Tyrosinuria

description: An abnormally increased level of tyrosine in the urine.


name: Abnormal motor nerve conduction velocity


Intratubular myoglobin cast

description: Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells.


Abnormal brainstem MRI signal intensity

description: A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.


Nephroptosis

description: A significant descent of the kidney as the patient moves from the supine to the erect position.


name: Increased proportion of marginal zone B cells

description: An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.


Elevated CSF biopterin level

description: Concentration of biopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.


Bendopnea

description: Dyspnea as a result of bending forward while not holding one's breath; dyspnea or shortness of breath onset within 30 seconds of bending forward.


Short middle phalanx of the 3rd toe

description: Developmental hypoplasia of the middle phalanx of third toe.


name: Triangular epiphysis of the middle phalanx of the 4th toe


Complete unilateral cleft lip

description: Unilateral cleft lip cleft that starts from the bottom of the upper lip and reaches the nasal cavity.


Increased male libido

description: Increased desire for sexual activity on the part of a male.


Abnormality of the ureter

description: An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.


Limb dysmetria

description: A type of dysmetria involving the limbs.


Pontocerebellar atrophy

description: Atrophy affecting the pons and the cerebellum.


Incomplete breech presentation

description: A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal.


name: Corticotropin-releasing hormone receptor defect

description: Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.


osteoid osteoma

description: A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare.


Edema of the upper limbs

description: An abnormal accumulation of fluid beneath the skin of the arms.


name: Increased anti-feather IgE antibody level

description: Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers.


Abnormal sperm motility

description: An anomaly of the mobility of ejaculated sperm.


Hyporeflexia

description: Reduction of neurologic reflexes such as the knee-jerk reaction.


name: Ductus venosus agenesis with intrahepatic drainage

description: A form of ductus venosus agenesis in which the umbilical vein connects via the portal sinus to the portal venous system (PVS) without giving rise to the ductus venosus. In some cases an intrahepatic shunt from a portal to a hepatic vein can be detected prenatally. This variant has been reported to have a favorable prognosis.


Narrow jaw

description: Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).


Pulp obliteration

description: Mineralized substance filling the entire dental pulp space.


Cholesterol gallstones

description: Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.


humeroradial synostosis

description: Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.


name: Osteolytic defects of the proximal phalanx of the 4th toe


skin tag

description: A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction.


name: Symphalangism affecting the middle phalanx of the 5th toe


name: Recurrent lower respiratory tract infections

description: An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.


Focal myoclonic seizure

description: A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.


Apathy

description: Apathy is a quantitative reduction of motivation and the initiation and persistence of goal-directed behavior, where the accompanying emotions, thoughts, and social interactions are also suppressed.


Increased CSF D-threitol concentration

description: The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal.


Hyperisoleucinemia

description: An increased concentration of isoleucine in the blood.


name: Glomerular hyalinosis at the tubular pole

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole.


name: Elevated circulating 1-pyrroline-5-carboxylic acid acid concentration

description: The concentration of delta-1-pyrroline-5-carboxylate in the blood circulation is above the upper limit of normal.


Decreased patellar reflex

description: Decreased intensity of the patellar reflex (also known as the knee jerk reflex).


Tibialis anterior muscle atrophy

description: Wasting of the tibialis anterior muscle.


Elevated circulating DOPA concentration

description: Concentration of DOPA (3,4-dihydroxyphenylalanine) in the blood circulation above the upper limit of normal.


Abnormal sperm physiology

description: Abnormality of a sperm function including protection of paternal DNA, traversing the female reproductive tract, oocyte localisation, penetration of the zona pellucida, oocyte activation and centriole deposition.


Abnormal gallbladder physiology

description: A functional anomaly of the gallbladder.


name: Abnormal urinary nucleobase concentration

description: A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U).


Subchorionic septal cyst

description: Cyst on the surface of the placenta consisting of amnion and chorion.


Long upper lip

description: Increased width of the upper lip.


Anti-TRIM46 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46).


Increased CSF aspartate concentration

description: Abnormally increased levels of aspartic acid in cerebrospinal fluid.


Upslanting toenail

description: Upturned concavity of toenails.


Poorly formed metencephalon

description: A morphological abnormality of the metencephalon.


Pericardial late gadolinium enhancement

description: Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium.


Absent fingernail

description: Absence of a fingernail.


name: EEG with photoparoxysmal response grade IV

description: Occurrence of generalized epileptiform discharges during photic stimulation.


Carotid artery tortuosity

description: Abnormal tortuous (i.e., twisted) form of the carotid arteries.


Triangular tongue

description: A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.


name: Increased anti-dust mite IgE antibody level

description: Increased level of IgE antibody against dust mites, such as house dust mites.


name: Non-convulsive status epilepticus without coma

description: A type of status epilepticus without prominent motor symptoms in the absence of coma.


name: Anti-bactericidal/permeability-increasing protein antibody positivity

description: The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies.


name: Abnormal circulating aspartic acid concentration

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


Increased serum sorbitol concentration

description: An increased level of sorbitol in the blood circulation.


Cortical nephrocalcinosis

description: The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).


name: Renal tubular epithelial cell hemosiderin

description: Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.


Hepatic xanthomatosis

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


Perinephric abscess

description: A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).


Sense of impending doom

description: A feeling that something life-threatening or tragic is about to occur.


Generalized cerebral atrophy/hypoplasia

description: Generalized atrophy or hypoplasia of the cerebrum.


name: Elevated circulating aspartylglucosamine concentration

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


Ureteral hypoplasia

description: Underdevelopment of the ureter.


Hypoketotic hypoglycemia

description: A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.


Carpometacarpal thumb joint contracture

description: Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint.


name: Anomalous origin of coronary artery from the pulmonary artery

description: A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.


Prostate mass

description: A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.


Impaired memory B cell generation

description: Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.


name: Renal interstitial necrotizing granulomas

description: An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation.


Female sexual dysfunction

description: A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity


name: Abnormal nonverbal communicative behavior

description: Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication.


Frog-leg posture

description: A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.


Weak anal sphincter tone

description: Reduced muscle tone of the sphincter of the anus.


Moyamoya phenomenon

description: A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.


Fetal choroid plexus cysts

description: Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637).


Iron accumulation in substantia nigra

description: An anomalous build up of iron (Fe) in the substantia nigra.


Anti-LGI1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1).


name: Glomerular hyalinosis away from the vascular and tubular poles

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section.


name: Osteolytic defects of the proximal phalanx of the 3rd finger

description: Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger.


name: Stippling of the epiphyses of the middle phalanges of the hand


reading disorder

description: A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process.


Absent ankle pulse

description: The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.


Snowball lesion of corpus callosum

description: Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.


name: Abnormality of the parathyroid physiology

description: A functional abnormality of the parathyroid gland.


Cardiovascular calcification

description: Abnormal calcification in the cardiovascular system.


Cardiac valve vegetations

description: Endocarditis infection occurs along the edges of the heart valves. Damage to the cardiac endothelium followed by platelet and fibrin deposition results in a sterile lesion known as nonbacterial thrombotic endocarditis (NBTE) or vegetation. Microbes entering the bloodstream via routine or invasive procedures adhere to the vegetation and are engulfed in an outer meshwork of fibrin and platelets. Subsequent rapid microbial multiplication in a protected area of impaired host defense leads to vegetation growth and continuous bacteremia.


name: Abnormal tricuspid chordae tendinae morphology

description: Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.


Abnormal urine pH

description: A deviation of urine pH from the normal range of 4.5 to 7.8.


Urethral atresia, male

description: Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.


name: Post-angioplasty coronary artery restenosis


Avulsion fractured epiphysis of femur

description: A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma.


omphalitis

description: Inflammation of the umbilical cord stump in newborns.


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

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


Severe oligozoospermia

description: A type of oligozoospermia characterized by a total number of more than 2 but less than 10 million sperm in the ejaculate or a concentration of more than 1 but less than 5 million sperm per milliliter.


Bidirectional shunt

description: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.


Glomerular hyalinosis

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular.


Bifid scrotum

description: Midline indentation or cleft of the scrotum.


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


name: Circumferential skin creases on extremities

description: Ringed creases of the skin of the extremities related to folding of excess skin.


name: Focal impaired awareness emotional seizure with laughing

description: Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.


Fetal ascites

description: Accumulation of fluid in the peritoneal cavity during the fetal period.


congenital laryngeal web

description: Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.


name: Bracket epiphysis of the middle phalanx of the 2nd toe


Bacteria allergy

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


Urogenital sinus anomaly

description: A rare birth defect in women where the urethra and vagina both open into a common channel.


name: Abnormality of endocrine pancreas physiology

description: A function abnormality of the endocrine pancreas.


Atrioventricular reentrant tachycardia

description: Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.


T-wave inversion

description: An inversion of the T-wave (which is normally positive).


Focal aware behavior arrest seizure

description: A focal behavior arrest seizure characterized by retained awareness throughout the seizure.


Anti-GT1a IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.


name: Increased circulating UDP glucose-4-epimerase concentration

description: An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


name: Arcuate vein intimal/medial storage material accumulation

description: Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney.


name: Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

description: A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.


Recurrent maladaptive behavior

description: A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions.


recurrent hypersomnia

description: Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)


Fractured radius

description: Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken.


Fatigable weakness of bulbar muscles

description: A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


name: Anti-phosphatidyl glycerol antibody positivity

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


Tubulonodular pericallosal lipoma

description: A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles.


Abnormal premolar morphology

description: An abnormality of morphology of premolar tooth.


name: Symphalangism affecting the middle phalanx of the 2nd toe


name: Glomerular endothelial tubuloreticular inclusion

description: Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon.


name: Elevated circulating catecholamine level

description: An abnormal increase in catecholamine concentration in the blood.


name: Increased urinary 11-deoxycorticosterone level

description: An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.


Ornithinuria

description: Level of ornithine in the urine above the upper limit of normal.


Anti-GQ1b IgG antibody positivity

description: The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.


Medullary nephrocalcinosis

description: The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).


polydactyly of a biphalangeal thumb

description: Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.


distal symphalangism

description: Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.


Elevated urine mevalonic acid level

description: An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid.


Dry skin

description: Skin characterized by the lack of natural or normal moisture.


Reversible airflow obstruction

description: Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.


name: Decreased growth hormone responses to growth hormone-releasing hormone challenge

description: Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.


Increased QRS voltage

description: Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).


cerebellar degeneration

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


Secretory adrenocortical adenoma

description: An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.


Absent abdominal reflex

description: Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.


Focal tonic seizure

description: A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.


multiple mucosal neuroma

description: Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.


Generalized arterial calcification

description: Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.


Focal aware autonomic seizure

description: A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout.


Ivory epiphyses of the 2nd toe

description: Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Non-restrictive ventricular septal defect

description: Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.


Enlarged amygdala

description: A increase in the volume (size) of the amygdyla.


name: Ivory epiphysis of the distal phalanx of the thumb

description: Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Monoclonal elevation of circulating IgE

description: An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Abnormality of the palmar creases

description: An abnormality of the creases of the skin of palm of hand.


Proximal muscle weakness in lower limbs

description: A lack of strength of the proximal muscles of the legs.


pulmonary valve agenesis

description: Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424


White oral mucosal macule

description: A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.


Abnormal speech rate

description: Speech that is abnormally fast or slow


Abnormal urine carbohydrate level

description: Any deviation from the normal concentration of a carbohydrate in the urine.


name: Anti-endothelin-1 type A receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor.


Pharyngeal myxoma

description: A myxoma (benign, locally infiltrative neoplasms arising from mesenchymal origin) localized to the pharynx.


inherited threoninemia

description: An increased concentration of threonine in the blood.


Increased urinary zinc level

description: An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection.


Curved toe phalanx

description: A deviation from the normal straight form of one or more toe phalanges.


name: Intralamellar mucoid extracellular matrix accumulation

description: A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.


Auditory sensory seeking

description: Pursuit of specific sounds or noises that is abnormal in intensity and/or frequency.


Neonatal focal myoclonic seizure

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


name: Sensorimotor polyneuropathy affecting arms more than legs


Bifid ureter

description: Incomplete duplication of the ureter.


Motor tics

description: Movement-based tics affecting discrete muscle groups.


Hypoxemia in cord blood

description: An abnormally low level of blood oxygen in the cord blood.


Abnormal metencephalon morphology

description: An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.


name: EEG with generalized slow activity grade 1

description: Slowing at frequencies between 7.5 and 8.5 Hz.


inborn glycerol kinase deficiency

description: An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.


name: polyposis of gastric fundus without polyposis coli

description: Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.


Abnormal epiphyseal ossification

description: An abnormality of the formation and mineralization of an epiphysis.


name: Premature coronary artery atherosclerosis

description: Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.


3-hydroxydicarboxylic aciduria

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


Abnormal direction of ventricular apex

description: Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.


nodular cutaneous amyloidosis

description: Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.


name: Elevated circulating saccharopine concentration

description: An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine.


Hernia of the abdominal wall

description: The presence of a hernia in the abdominal wall.


Lumbosacral hemangioma

description: A spinal cord hemangioma located in the lumbosacral spine region.


Neologism

description: Consistent use of an invented word that is unique to an individual.


Abnormal palm morphology

description: An abnormality of the palm, that is, of the front of the hand.


Acquired abnormal hair pattern

description: An abnormality of the distribution of hair growth that is acquired during the course of life.


Extrahepatic portal hypertension

description: Increased pressure in the pre-hepatic portal vein.


Adrenocortical cytomegaly

description: The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.


Monorchism

description: Having only one testis in the scrotum.


Progressive clavicular acroosteolysis

description: Progressive bone resorption in the distal part of the clavicle.


Focal polymicrogyria

description: Polymicrogyria affecting one or multiple small areas of the cerebral cortex.


name: Abnormal brain choline/creatine ratio by MRS

description: A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).


EEG with series of focal spikes

description: Focal spikes occurring for several seconds.


Phantageusia

description: A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment.


name: Aplasia/hypoplasia of the 1st metatarsal

description: Absence or underdevelopment of the first metatarsal bone.


Abnormal motor neuron morphology

description: Any structural anomaly that affects the motor neuron.


Abnormal pineal morphology

description: A structural abnormality of the pineal gland.


Deep white matter hypodensities

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


Palatal edema

description: Swelling related to fluid accumulation within the palate.


Phonophobia

description: An abnormally heightened sensitivity to loud sounds.


Postural instability

description: A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.


name: Osteolytic defects of the 1st metatarsal

description: Dissolution or degeneration of bone tissue of the first metatarsal.


Abnormality of hair growth rate

description: Hair whose growth rate deviates from the norm.


polymorphic ventricular tachycardia

description: A ventricular tachycardia that is irregular in rate and rhythm.


Frequent Giardia lamblia infestation

description: Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.


Rheumatoid nodule

description: A well-demarcated, flesh colored, subcutaneous and usually freely movable lump or mass. Rheumatoid nodules can vary in size from small, pea sized lesions up to the size of a lemon and are most often round. The nodules usually are doughy or firm however and not tender. Typically rheumatoid nodules are distributed over areas of repeated trauma or pressure and occur adjacent to joints on extensor surfaces, such as the elbow, fingers and forearms.


name: Abnormal brain N-acetyl aspartate level by MRS

description: A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).


name: Focal impaired awareness myoclonic seizure

description: A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure.


Recurrent mandibular subluxations

description: Recurrent partial dislocations of the mandible.


name: Triangular epiphysis of the proximal phalanx of the 5th toe


name: Abnormal circulating bilirubin concentration


Generalized muscle weakness

description: Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.


name: Abnormal internal carotid artery morphology

description: An abnormality of an internal carotid artery.


fibrous hamartoma of infancy

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


name: Focal impaired awareness vocal automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.


Microtia, second degree

description: Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.


erysipelas

description: An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch.


name: Small epiphysis of the proximal phalanx of the hallux


Decreased miniature endplate potentials

description: An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.


EBV encephalitis

description: Inflamation of the brain related to infection by Epstein-Barr virus.


Abnormal hypothalamus morphology

description: Any structural anomaly of the hypothalamus.


name: Osteolytic defects of the phalanges of the 5th toe


otosclerosis

description: Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.


Orthostatic syncope

description: Syncope following a quick change in position from lying down to standing.


name: Abnormal cortical radial artery endothelium morphology

description: Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.


Probst bundles

description: Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles.


Uterine myxoma

description: A myxoma (tumor of primitive connective tissue) localized to the uterus.


CSF polymorphonuclear pleocytosis

description: An increased polymorphonuclear cell count in the cerebrospinal fluid.


Neonatal electrographic only seizure

description: Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.


Elevated urinary uromodulin level

description: The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is above the upper limit of normal.


Epidermal thickening

description: Thickening of the epidermal layer of the skin.


Glycopeptiduria

description: Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.


Abnormal prosody

description: Abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization.


name: Anti-myelin-associated glycoprotein antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).


Abnormal CSF isoleucine concentration

description: Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.


name: EEG with hyperventilation-induced epileptiform discharges

description: Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


name: Bilateral tonic-clonic seizure with focal onset

description: A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.


Episodic hemiplegia

description: Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.


Talipes calcaneovalgus

description: Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.


Unexplained fevers

description: Episodes of fever for which no infectious cause can be identified.


Urinary tract atresia

description: Congenital absence of the normal opening of a structure of the urinary tract.


name: Double inlet to single ventricle of indeterminate morphology

description: The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.


name: Supraventricular tachycardia with a concealed accessory pathway on the right free wall


prostate calculus

description: A concretion in the prostate.


name: Abnormal platelet ATP dense granule secretion

description: Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).


Urinary hesitancy

description: Difficulty in beginning the process of urination.


name: Excessive bleeding from superficial cuts

description: An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.


name: Elevated serum bicarbonate concentration

description: An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.


name: Focal T2 hypointense basal ganglia lesion

description: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia.


Acute esophageal necrosis

description: A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.


optic nerve sheath meningioma

description: A meningioma that affects the sheath of the optic nerve.


name: Elevated circulating 3-hydroxylinoleylcarnitine concentration

description: Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.


Hypoplasia of the midbrain

description: A developmental defect characterized by underdevelopment of the mesencephalon.


Abnormal palate morphology

description: Any abnormality of the palate, i.e., of roof of the mouth.


Atretic vas deferens

description: Abnormal closure or blockage of the vas deferens.


Lack of peer relationships

description: The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers.


Hypoplasia of the thymus

description: Underdevelopment of the thymus.


name: Abnormal cardiomyocyte dystrophin staining

description: Anomalous staining of dystrophin in cardiomyocytes.


atrophy of testis

description: Loss of testicular volume.


Trophic limb changes

description: Trophic changes occurring in a limb.


name: Abnormal sperm principal piece morphology

description: A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece.


name: Reduced circulating lipoprotein(a) concentration

description: The concentration of lipoprotein(a) in the blood circulation is below the lower limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667).


Intradural spinal lipoma

description: Intradural spinal lipoma (ISL) constitutes approximately 1% of all spinal tumors and is usually associated with lumbo-sacral spinal dysraphism. ISLs unassociated with spinal dysraphism are rare with only a few cases being reported in literature. They are seen in children and young adults and are situated on the posterior aspect of the spinal cord in the cervico-thoracic or thoracic regions. They represent intradural, subpial, juxtamedullary lesions.


Macroprolactinoma

description: A pituitary prolactin cell adenoma of more than 10 mm diameter.


Olfactory agnosia

description: The inability to recognize certain smells or types of odors that you previously recognized.


name: Aplasia/Hypoplastia of the eccrine sweat glands

description: Absence or developmental hypoplasia of the eccrine sweat glands.


Abnormality of folate metabolism

description: An abnormality of the metabolism of folic acid, which is also known as vitamin B9.


Type II truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.


Stercoral ulcer

description: An ulcer of the colon due to pressure and irritation from retained fecal masses.


central polydactyly of fingers

description: The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.


Abnormal internal genitalia

description: An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).


Glomerular basement membrane wrinkling

description: Irregular folding of the glomerular basement membrane with an intact lamina densa.


Osteolytic defect of thumb phalanx

description: Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.


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

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


pustulosis palmaris et plantaris

description: A chronic inflammatory disorder that generally occurs in adulthood and is characterized by sterile pustules intermingled with scaly erythemas, vesicles and hyperkeratosis occurring at distinct sites on the palms and soles. It is thought to be an autoimmune disorder precipitated by several factors, including local infection, and smoking.


Small for gestational age

description: Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.


Somatosensory-induced seizure

description: A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.


name: Cortical radial artery intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.


isolated familial wooly hair disorder

description: Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.


name: Abnormality of circulating cortisol level

description: An abnormality of the concentration of cortisol in the blood.


Nailfold capillary tortuosity

description: An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.


Decreased level of heparin co-factor II

description: An abnormality of coagulation related to a decreased concentration of heparin co-factor II


Gallop rhythm

description: In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse.


Civatte bodies

description: Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant


patent foramen ovale

description: A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes.


Lateral venous anomaly

description: Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.


name: Entrapment neuropathy of the ulnar nerve at elbow

description: An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.


name: Decreased circulating free fatty acid level


Vulvar hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva.


name: Pseudoepiphysis of the middle phalanx of the 2nd toe

description: A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe.


Autoscopy

description: A phenomenon in which an individual perceives themselves from an external perspective, as if they are observing their own body or self from a location outside of their physical body.


Enlarged fetal cisterna magna

description: The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637).


name: Abnormal interpretation of external stimuli

description: Abnormal perception of reality is characterized by an abnormal or inaccurate experience of external stimuli.


name: Sclerosis of the middle phalanx of the 3rd finger


Submandibular lymph node enlargement

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


name: Abnormal cardiovascular system physiology

description: Abnormal functionality of the cardiovascular system.


Sclerosis of 5th toe phalanx

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


Neonatal focal tonic seizure

description: Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.


Pituitary gonadotropic cell adenoma

description: A type of pituitary adenoma that produces gonadotropins.


Vacuolated hepatocytes

description: Presence of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in hepatocytes, which normally rarely contain vacuoles.


Distal ulnar epiphyseal stippling

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.


name: Reduced epidermal bullous pemphigoid antigen 1 protein expression

description: Lower than normal amount of bullous pemphigoid antigen 1 (BP230) in the epidermis.


Dysplastic corpus callosum

description: Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.


Illusions

description: Perceptual experiences that involve misinterpretations or distortions of sensory stimuli.


Agenesis of permanent molar

description: Agenesis of secondary molar tooth.


Hypoisoleucinemia

description: A decreased amount of isoleucine in the blood.


Unusual infection by anatomical site

description: An unusual infection classified by the affected body part.


Left atrial fibrosis

description: Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins.


Progressive flexion contractures

description: Progressively worsening joint contractures.


Curved hallux phalanx

description: A deviation from the normal straight form of one or more phalanges of the big toe.


Abnormality of bone mineral density

description: This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.


progressive osseous heteroplasia

description: A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.


name: Impaired ADP-induced platelet aggregation

description: Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.


name: Increased glucose-6-phosphate dehydrogenase level in leukocytes

description: An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.


name: Elevated CD4-positive, CD25-positive regulatory T cell count

description: An increased number of CD4-positive, CD25-positive regulatory T cells.


name: Agenesis of permanent mandibular lateral incisor


Reduced fecal osmolality

description: Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.


Colonic stenosis

description: A narrowing of a segment of colon whereby bowel continuity is maintained.


Hyperchloremic acidosis

description: Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.


name: Abnormality of depressor labii inferioris

description: An abnormality of a depressor labii inferioris.


Abnormal ventricular axis

description: Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization.


Abnormal mesentery morphology

description: Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).


Respiratory infections in early life

description: Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.


Abnormal dermatoglyphics

description: An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.


Vegetative state

description: The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities.


Fat malabsorption

description: Abnormality of the absorption of fat from the gastrointestinal tract.


name: Elevated circulating soluble CD25 concentration

description: Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response.


Abnormal arcuate vein lumen morphology

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


name: Ubiquitin-positive cerebral inclusion bodies

description: Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.


scleroderma

description: Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).


Increased T cell count

description: An abnormal increase in the total number of T cells detected in the blood.


name: Seizure precipitated by febrile infection

description: Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.


Shortened QT interval

description: Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).


name: Aplasia of the abdominal wall musculature

description: Absence of the abdominal musculature.


Neck flexor weakness

description: Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).


name: Abnormal proportion of central memory CD8-positive, alpha-beta T cells

description: An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


McConnell sign

description: Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle.


Hemivertebrae

description: Absence of one half of the vertebral body.


Malaligned philtral ridges

description: Absence of the usual parallel position of philtral ridges.


name: Sonographic non-visualized fetal bladder

description: Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation.


Shoulder adduction contracture

description: A type of shoulder contracture characterized by a chronic reduction in the active and passive ability to abduct the shoulder. This results in the shoulders being closer to midline. The affected individual is not able to position the shoulders away from the body.


Ketotic hypoglycemia

description: Low blood glucose is accompanied by elevated levels of ketone bodies in the body.


Abnormal glucagon level

description: A deviation from the normal concentration of glucagon in the blood circulation.


Shuffling gait

description: A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.


Hazardous alcohol use

description: Hazardous drinking is defined as a quantity or pattern of alcohol consumption that places individuals at risk for adverse health events. This could include alcohol use despite potentially hazardous or risky consequences, such as operating heavy machinery or drunk driving.


Neck pterygia

description: Pterygia affecting the neck.


name: Complete duplication of the distal phalanx of the 2nd finger

description: Complete duplication of the distal phalanx of index finger.


Focal aware pedal automatism seizure

description: A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


Hypoplastic fifth fingernail

description: A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.


univentricular heart

description: Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.


name: Focal impaired awareness hemiclonic seizure

description: A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.


Asparaginuria

description: An increased concentration of asparagine in the urine.


name: Impaired visually enhanced vestibulo-ocular reflex

description: The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).


isolated sulfite oxidase deficiency

description: Abnormally reduced sulfite oxidase level.


name: Absent bronchoalveolar surfactant-protein C

description: Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseases, pathogenetically related to the alveolar surfactant region.


name: Pseudoepiphysis of the distal phalanx of the 5th toe


Bifid uterus

description: The presence of a bifid uterus.


Exertional dyspnea

description: Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.


Abnormal QRS voltage

description: Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).


name: Elevated circulating oleylcarnitine concentration

description: Increased concentration of oleylcarnitine in the blood circulation.


name: Elevated circulating cholesterol sulfate concentration

description: The concentration of cholesterol sulfate in the blood circulation is above the upper limit of normal.


Penile freckling

description: Multiple pigmented macules located on the skin of the penis.


Anti-Ro/SS-A antibody positivity

description: The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens.


hypertrophic cardiomyopathy 1

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.


NREM parasomnia

description: A parasomnia that occurs during non-rapid eye movement (NREM) sleep.


name: Irregular septal thickening on pulmonary HRCT

description: Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.


Fractured epiphysis

description: A partial or complete breakage of the epiphysis.


Abnormality of palatoglossus muscle

description: An abnormality of a palatoglossus muscle.


name: Contracture of the metatarsophalangeal joint of the 4th toe

description: The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively.


Bowel urgency

description: A sudden, irresistible need to have a bowel movement.


description: The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.


Sclerosis of 3rd toe phalanx

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


Abnormality of joint mobility

description: An abnormality in the range and ease of motion of joints across their normal range.


Transient decreased circulating IgG2

description: A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.