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

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


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

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


Intra-oral hyperpigmentation

description: Increased pigmentation, either focal or generalized, of the mucosa of the mouth.


Tapered sperm head

description: Sperm with cigar-shaped heads that gradually dimish in diameter (taper).


name: Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts

description: Concentration or activity of inositol polyphosphate 5-phosphatase OCRL-1 as measured in cultured fibroblasts is below the limits of normal. This enzyme has phosphoinositide 5-phosphatase (EC 3.1.3.36) activity.


Transient decreased circulating IgG1

description: A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation.


Third cranial nerve thickening

description: Increase in diameter of the third cranial nerve (oculomotor nerve). This feature can be observed by magnetic resonance imaging and may be accompanied by contrast enhancement.


name: Elevated circulating oxalate concentration

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


name: Partial duplication of the proximal phalanges of the hand

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Neoplasm of the nail

description: A tumor (abnormal growth of tissue) of the nail.


geographic tongue

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

description: A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment.


Fifth metacarpal with ulnar notch

description: Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).


description: The concentration of monolysocardiolipin related to that of cardiolipin is above the upper limit of normal. This is a functional assay that can be performed from a blood spot to diagnose Barth syndrome (OMIM:302060).


Decreased circulating C1q concentration

description: Concentration or activity of the C1q protein in the blood circulation below the lower limit of normal. C1q is the first component of the classical pathway and is composed of the C1qA chain, C1qB chain, and C1qC chain, which are encoded by C1qA, C1qB, and C1qC genes.


angiolipoma

description: A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms.


Thickened cortex of long bones

description: Abnormal thickening of the cortex of long bones.


Aortic root aneurysm

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


Aggression towards others

description: Aggression that is directed towards other individuals, as opposed to oneself.


Abnormal PR segment

description: An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric.


name: Abnormal insulin like growth factor binding protein acid labile subunit level

description: A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.


name: Partial duplication of the phalanges of the 5th finger

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Fetal chylothorax

description: The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus.


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


Symmetric polyarthritis

description: Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion.


Abnormal pineal volume

description: An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.


name: Subepithelial glomerular basement membrane electron dense deposits

description: Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM.


Abnormal protein O-linked glycosylation

description: An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.


name: Partial duplication of the middle phalanges of the hand

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Umbilicated nodule

description: A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).


Jaw contracture

description: Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement.


Broad ribs

description: Increased width of ribs


Abnormal urine metabolite level

description: Any deviation from the normal amount of a metabolite in urine.


Abnormal labia majora morphology

description: An anomaly of the outer labia.


Testicular lipomatosis

description: Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.


Round spermatid arrest

description: A failure of spermatogenesis to progress beyond the round spermatid stage. The round spermatid is the first haploid cells produced during spermatogenesis and normally further develop into mature spermatozoa. This abnormality can be visualized with testicular biopsy and is characterized seminiferous tubules with increased numbers of round spermatids with few or no mature spermatozoa.


name: Elevated urine N-acetylaspartic acid level

description: The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry.


name: Decreased urine bicarbonate concentration

description: Abnormally decreased concentration of hydrogencarbonate in the urine.


name: Elevated urine 3-hydroxypropionic acid level

description: Amount of 3-hydroxypropionic acid in the urine above the upper limit of normal.


name: Increased anti-seafood IgE antibody level

description: Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.


name: Elevated circulating palmitoylcarnitine concentration

description: Abnormally increased concentration of palmitoylcarnitine in the blood circulation.


Increased length of the tibia

description: An abnormal increase in the length of the tibia.


name: Hypoplasia of mandible relative to maxilla

description: Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).


name: Enlarged epiphyses of the distal phalanges of the hand


Aplasia of the parotid gland

description: Absence of the parotid gland.


name: Elevated circulating alpha-fetoprotein concentration

description: Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.


Abnormality of the incisor

description: An abnormality of the Incisor tooth.


Abnormal heart rate variability

description: Any abnormality in the variability of the time interval between successive heartbeats.


penoscrotal transposition

description: Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).


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


description: Malignant hyperthermia that is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.


name: Focal aware cognitive seizure with left-right confusion

description: A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.


Abnormal renal echogenicity

description: Anomalous echogenicity of the kidney on ultrasound examination.


Abnormal thought pattern

description: Abnormal thought pattern refers to thoughts or patterns of thinking that are intrusive, obsessive, or challenging to control.


Elevated aldosterone:renin ratio

description: The ratio of aldosterone concentration to renin concentration is above the upper limit of normal. If aldosterone is expressed in ng/dl and plasma renin activity is expressed as ng/ml/hr, then values above 20 with aldosterone level above 15 are considered indicative of primary aldosteronism.


name: Diffuse ribbon-like subcortical heterotopia

description: Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex.


Furcate cord insertion

description: Branching of the umbilical cord before its insertion into the placenta.


name: Elevated urinary methylmalonylcarnitine level

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


Delusions of infestation

description: A persistent belief that a person is infested with living or non-living pathogens, such as parasites, insects, or bugs, when no such infestation is present.


Reduced muscle fiber calpain-3

description: Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.


Flexural lichenification

description: Lichenification affecting primarily flexural areas of the skin.


Dysplastic aortic valve

description: A congenital malformation of the aortic valve characterized by leaflet deformation.


Multiple cutaneous leiomyomas

description: The presence of multiple leiomyomas of the skin.


name: Nonfunctional or atypical use of objects in play

description: Use of objects in atypical, unimaginitive ways other than for which they are intended (banging, throwing, shaking, sorting, lining up, spinning).


Moderately short stature

description: A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.


name: Elevated urinary 3-hydroxykynurenine level

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


Isolation of the left subclavian artery

description: The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus.


name: Abnormality of the musculature of the upper arm


second-degree atrioventricular block

description: Intermittent failure of atrial electrical impulse conduction to the ventricles.


Adrenocorticotropin receptor defect

description: Adrenal insufficiency secondary to a defect in the ACTH receptor.


Abnormal breast morphology

description: Any anomaly of the structure of the breast.


Atypical scarring of skin

description: Atypically scarred skin .


name: Decreased sialylation of N-linked protein glycosylation

description: Decreased addition of sialic acids to N-linked glycans.


Hematocolpos

description: Accumulation of blood in the vagina usually due to vaginal obstruction.


Lobulated tongue

description: Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.


name: Increased level of platelet-activating factor


name: Elevated circulating dihydroxyphenylacetic acid concentration

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


Infrequent social engagement with peers

description: Social engagement refers to the interaction of an individual with others in a contextually appropriate manner. This term refers to a lower than typical number of attempts to engage peers in conversation, play, or other interactions.


EEG with spike-wave complexes

description: Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Increased placental thickness

description: Abnormally elevated placental thickness.


name: Radial deviation of thumb terminal phalanx


description: A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.


Lip cyanosis

description: Bluish discoloration of the lips.


myoglobinuria, recurrent

description: An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.


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


name: Anti-Kelch like protein 11 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11).


pelvic lipomatosis

description: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males.


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

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected.


Localized area of pendulous skin

description: A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region.


Positive blood infectious agent test

description: Any kind of test for an infectious agent in the blood circulation positive.


Absence of CD8-positive T cells

description: Lack of detectible CD8-positive T cells


Abnormal endocardium morphology

description: An abnormality of the endocardium.


Abnormal core 1 O-glycan level

description: An abnormal in the concentration of core 1 O-glycans on glycoproteins.


name: Focal impaired awareness cognitive seizure with neglect

description: A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure.


Short fetal femur length

description: A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).


Pectus excavatum of inferior sternum

description: Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.


name: Unilateral hypoplasia of pectoralis major muscle

description: Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.


Abnormal capillary morphology

description: A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.


Elevated circulating tenascin-C level

description: Abnormally increased concentration of tenascin-C in the blood circulation.


Severe conductive hearing impairment

description: A severe form of conductive hearing impairment.


Elevated MHC II surface expression

description: An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface.


Abnormal cerebellar cortex morphology

description: Any structural anomaly of the cortex of the cerebellum.


Anti-arbovirus antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of an Arbovirus.


Post-partum hemorrhage

description: Significant maternal hemorrhage/blood loss following deilvery of a child.


name: Reduced muscle laminin alpha-2 chain staining

description: A decreased amount of laminin alpha-2 chain in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue.


name: Liver kidney microsome type 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).


Cavitation of the basal ganglia

description: The formation of small cavities in the tissue of the basal ganglia.


Intratubular hyaline casts

description: A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.


Abnormal blood zinc concentration

description: An abnormality of zinc ion homeostasis.


Midline facial cleft

description: A congenital malformation with a cleft (gap or opening) in the midline of the face.


name: Abnormal circulating proteinogenic amino acid derivative concentration

description: Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.


name: Decreased galactosylation of N-linked protein glycosylation

description: A reduction in the amount of galactose residues of N-glycans.


Hyperthreoninuria

description: An increased concentration of threonine in the urine.


Cone-shaped epiphyses of the 3rd finger

description: A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Copper accumulation in brain

description: An anomalous build up of copper (Cu) in the brain.


name: Head impulse test has corrective saccade

description: In a patient with nystagmus, The examiner briskly rotates the head of the patient while having the patient fixate on a target. A corrective saccade indicates the patient's eye will move in one direction and quickly return back to neutral position.


name: Right ventricular regional wall motion abnormality

description: The occurrence of abnormal or absent contractility of a region of the heart muscle of the right ventricule. Conventional assessment of RWMA is based on visual interpretation of endocardial excursion and myocardial thickening from the echocardiogram videos.


Abnormal macroscopic urine appearance

description: Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.


Fractured interphalangeal joint

description: A partial or complete breakage of the interphalangeal joint.


name: Unilateral conductive hearing impairment


name: Bullet-shaped proximal phalanx of the 2nd finger

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected.


Osseous finger syndactyly

description: Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".


name: Increased circulating troponin I concentration

description: An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.


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

description: Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger.


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


Short middle phalanx of the 3rd finger

description: Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.


Webbed neck

description: Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.


Descending aortic dissection

description: A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.


Hemangioma of the lip

description: A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.


Postauricular pit

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


Fetal polyuria

description: Abnormally increased production of urine by the fetus resulting in polyhydramnios.


Intralamellar aortic medial fibrosis

description: A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.


name: Rudimentary postaxial polydactyly of hands


name: Partial duplication of the proximal phalanx of the 2nd toe

description: Partial duplication of proximal phalanx of second toe.


Clinodactyly of the 3rd toe

description: Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).


Flexion contracture of the 2nd toe

description: One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively.


name: Incomplete partition of the cochlea type II

description: With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.


Joint contracture

description: A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.


Enlarged epididymis

description: Abnormal increase in the size of the epididymis.


name: familial thoracic aortic aneurysm and aortic dissection

description: A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.


Irregular chondrocostal junctions

description: Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.


name: Decreased CSF 5-hydroxyindolacetic acid concentration

description: 5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal.


description: The presence of antibodies in the blood circulation that react against a component of cytomegalovirus (CMV).


Thickened superior cerebellar peduncle

description: Increased width of the superior cerebellar peduncle.


Absent ethmoidal sinuses

description: Lack (aplasia) of the ethmoidal sinus.


Glomerular fibrin thrombus

description: An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen.


Abnormality of the wrist

description: Abnormality of the wrist, the structure connecting the hand and the forearm.


name: Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells

description: An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.


Abnormal vestibular saccule morphology

description: Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement).


Decreased core 1 O-glycan level

description: An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins.


Low hanging columella

description: Columella extending inferior to the level of the nasal base, when viewed from the side.


Yellow skin plaque

description: A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.


Lymph node xanthomatosis

description: Lipid deposits localized within one or more lymph nodes. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Abnormal urine potassium concentration

description: An abnormal concentration of potassium(1+) in the urine.


Hypotyrosinemia

description: An decreased concentration of tyrosine in the blood.


Short proximal phalanx of thumb

description: Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Diffuse cerebellar atrophy

description: Diffuse unlocalised atrophy affecting the cerebellum.


name: Reduced HMG-CoA lyase activity in cultured fibroblasts

description: Acitivity of 3-hydroxy-3-methylglutaryl coenzyme A lyase (HMG CoA lyase) below the lower limit of normal in cultured fibroblasts.


Abnormal middle ear morphology

description: An abnormality of the morphology or structure of the middle ear.


Focal cortical dysplasia type III

description: A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.


name: Increased total hemolytic complement activity

description: An abnormally elevated total hemolytic complement activity in the circulation.


EEG with spike-wave complexes (>3.5 Hz)

description: The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).


Congenital absence of portal vein

description: Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.


polydactyly of a triphalangeal thumb

description: A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.


name: Contracture of the proximal interphalangeal joint of the 2nd toe

description: The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.


Terminal insomnia

description: A type of insomnia characterized by waking up too early in the morning is known as early morning awakening. The termination of sleep must occur at least 30 minutes before the desired time.


Anti-hexokinase-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1.


Focal aware verbal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout.


name: Impaired renal tubular reabsorption of chloride

description: Any impairment of reabsorption of chloride by the kidney.


Fractured nose

description: A partial or complete breakage of the nose.


Hepatic polyglucosan accumulation

description: Intracellular accumulation of polyglucosan bodies-containing amylopectinlike polysaccharide-in the liver.


Abnormality of circulating fibrinogen

description: An abnormality of the level of activity of circulating fibrinogen.


Hip dislocation

description: Displacement of the femur from its normal location in the hip joint.


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


name: Posterior predominant thick cortex pachygyria

description: Pachygyria with cortical thickness above 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


Pleural cobblestoning

description: A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura.


Fractured phalanx of manus

description: A partial or complete breakage of the phalanx of manus.


Increased T3/T4 ratio

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


Increased fecal calprotectin level

description: An increased amount of calprotectin in the feces.


Type II cryptotia

description: A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.


Periventricular pseudocyst

description: Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns.


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

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


preeclampsia/eclampsia 1

description: Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.


Fractured fibula

description: A partial or complete breakage of the fibula.


Abnormal dentate nucleus morphology

description: An abnormality of the dentate nucleus.


name: Abnormal circulating aromatic amino acid concentration

description: Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.


Pulmonary artery dilatation

description: An abnormal widening of the diameter of the pulmonary artery.


Abnormal labia morphology

description: An anomaly of the labia, the externally visible portions of the vulva.


EEG with multifocal slow activity

description: Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Duodenal arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum.


Hypoechoic breast mass

description: A breast mass visualized by sonography that displays a lower than normal echo signal (and this that appears dark gray in the typical ultrasound image).


name: Increased urine isobutyrylglycine concentration

description: Elevated concentration of isobutyrylglycine in the urine.


name: Complete duplication of the middle phalanx of the 5th finger

description: Complete duplication of the fifth middle phalanx of hand.


Elevated urinary creatine level

description: An increased amount of creatine in the urine.


name: Interlobular vein intima/media liquefactive necrosis

description: A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Absent nasal septal cartilage

description: Lack of the cartilage of the nasal septum.


name: Abnormal mandibular symphysis morphology

description: A structural abnormality of a mandibular symphysis.


Linear atelectasis

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


Infantile spasms

description: Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).


EEG with photoparoxysmal response

description: EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.


name: Bracket epiphysis of the distal phalanx of the hallux

description: The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.


Retrograde ejaculation

description: The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.


Fractured navicular bone of pes

description: A partial or complete breakage of the navicular bone of pes.


Protrusio acetabuli

description: Intrapelvic bulging of the medial acetabular wall.


name: EMG: incremental response of compound muscle action potential to repetitive nerve stimulation

description: A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation.


name: Abnormal circulating thromboxane concentration

description: Any deviation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels.


Esophageal mass

description: A swelling or enlargment localized to the esophagus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


name: Abnormal intrahepatic bile duct morphology

description: An abnormality of the intrahepatic bile duct.


Increased radioactive iodine uptake

description: An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.


secretory component deficiency

description: Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.


name: Abnormal morphology of phalanx of the 2nd toe

description: An anomaly of a phalanx of second toe.


name: Abnormal circulating pyruvate family amino acid concentration

description: An abnormality of a pyruvate family amino acid metabolic process.


name: Focal aware cognitive seizure with dissociation

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


Spinal cord calcifications

description: The presence of calcium deposition in the spinal cord.


Reduced F-wave amplitude

description: Reduced strength (amplitude) of the F-wave, which is an electrophysiological artifact produced by antidromic activation of motoneurons following distal electrical stimulation of motor nerve fibers.


Unilateral ulnar hypoplasia

description: Underdevelopment of the ulna on only one side.


Anti-polio virus antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of poliovirus.


name: Aplasia/Hypoplasia of the abdominal wall musculature

description: Absence or underdevelopment of the abdominal musculature.


In situ pulmonary artery thrombosis

description: Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease.


Central Y-shaped metacarpal

description: A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.


Frontal polymicrogyria

description: A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.


Extrahepatic bile duct fibrosis

description: Accumulation of fibrous connective tissue (collagen) in the extrahepatic bile ducts.


Painful subcutaneous lipomas

description: The presence of multiple subcutaneous lipoma that cause pain.


name: Increased disialylated core 1 O-glycan level

description: An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins.


Abnormal vascular physiology

description: Abnormality of vascular function.


Disorganized speech or communication

description: An abnormal or disorganized way of communicating that appears to be the result of disorganized thought.


Abnormal toe morphology

description: An anomaly of a toe.


name: Focal impaired awareness cognitive seizure with dyscalculia/acalculia

description: A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure.


name: Abnormal circulating organic amino compound concentration

description: Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups.


Fused cervical vertebrae

description: A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.


Reduced intraabdominal adipose tissue

description: An abnormally reduced amount of adipose tissue in the abdominal cavity.


description: The presence of autoantibodies (immunoglobulins) in the serum that display a high degree of specificity for idiopathic inflammatory myopathy (myositis-specific autoantibodies (MSAs)). MSAs are clinically useful biomarkers to help the diagnosis of polymyositis/dermatomyositis (PM/DM). Many of these are also associated with a unique clinical subset of PM/DM, making them useful in predicting and monitoring certain clinical manifestations.


Purulent sputum

description: Sputum contains pus.


head and neck paraganglioma

description: A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas.


name: Irregular epiphysis of the proximal phalanx of the hallux


name: Arcuate artery intima/media granulomatous arteriitis

description: A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


Regional right ventricular hypokinesis

description: Decreased range of right ventricular motion in a portion of the right ventricle of the heart.


Aqueous humor viral DNA positivity

description: The presence of viral DNA (e.g., cytomegalovirus, herpes simplex virus, or varicella zoster virus) in the aqueous humor of the eye.


Glomerular obsolescence

description: Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium.


Small epiphyses of the 5th finger

description: Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms.


name: Impairment of activities of daily living

description: Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.


name: Abnormal respiratory motile cilium physiology

description: Any functional anomaly of the respiratory motile cilia.


Nipple epidermal Paget cells

description: Malignant, intraepithelial adenocarcinoma cells of variable sizes usually large in size, present singly or in the form of small groups within the epidermis of the nipple. Cells may be ovoid, round, or signet-ring forms, usually mucin positive, and the cytoplasm may contain periodic acid-Schiff (PAS)-positive, diastase-resistant granules, indicating the presence of neutral mucopolysaccharides. The cells possess microscopic features of glandular cells with pale to clear vacuolated cytoplasm, and nuclei are usually high-grade with prominent nucleoli.


Ureteral stenosis

description: The presence of a stenotic, i.e., constricted ureter.


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


name: Abnormal metatarsal epiphysis morphology

description: Any abnormality of a metatarsal bone epiphysis.


Posterior mediastinal mass

description: A type of inferior mediastinal mass that is located behind the pericardium.


name: Elevated CSF cystathionine concentration

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


Aplasia of the vestibule

description: Complete absence of the vestibule of the inner ear.


Frontal release signs

description: Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.


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

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


Chess-pawn distal phalanges

description: A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.


Arachnoid granulation

description: Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull.


name: Interlobular vein intima/media granulomatous venulitis

description: A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.


Anti-ARHGAP26 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26).


Dural ectasia

description: A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.


Long clavicles

description: Increased length of the clavicles.


Intracranial epidermoid cyst

description: A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.


Macrocephaly

description: Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.


Chronic oral candidiasis

description: Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.


name: Insufficient response to short acting pulmonary vasodilator

description: No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide.


EEG with central sharp waves

description: EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.


name: Aplasia/Hypoplasia of the phalanges of the thumb


Flared humeral metaphysis

description: Flaring (increase of width with a splayed appearance) of the humeral metaphysis.


description: Aplasia/Hypoplasia of the phalanges of the 5th finger.


name: congenital total pulmonary venous return anomaly

description: Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.


name: Focal autonomic seizure with urge to urinate/defecate

description: A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.


Spheroid bodies

description: An accumulation of myofilamentous material within individual muscle fibers, forming usually round but occasionally elongated bodies ranging from 2 to 15 pm in size. The so-called spheroid bodies stain green with the modified trichrome preparation and are mainly present in the periphery of type 1 muscle fibers, where they may occupy large sectors sharply demarcated from the remainder of the cross-sectioned muscle fiber.


name: Anti-glycyl tRNA-synthetase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase.


name: Progressive cervical vertebral spine fusion


Decreased urinary neopterin level

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


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


name: Decreased circulating epinephrine concentration

description: Concentration of epinephrin in the blood circulation below the lower limit of normal.


dyschromatosis universalis hereditaria

description: A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.


name: Cortical radial artery neutrophil hypercellularity

description: A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries.


Abnormal bladder morphology

description: Any structural anomaly of the bladder.


Preauricular skin tag

description: A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).


name: Abnormality of superior crus of antihelix

description: An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.


Low self-esteem

description: Low self-confidence and excessively critical feelings about oneself characterize a negative opinion about oneself.


anodontia

description: Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.


EEG with occipital sharp slow waves

description: EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Diastomatomyelia

description: Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.


Feather allergy

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


name: Abnormality of the epiphysis of the 2nd metacarpal

description: Any abnormality of the epiphysis of the second metacarpal bone.


Acral ulceration

description: A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.


name: Cellular hypersensitivity to mitomycin C

description: An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.


Laryngeal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.


name: Decreased anterioposterior diameter of lumbar vertebral bodies


Nonprogressive muscular atrophy

description: Muscular atrophy that does not display a progression in severity with time.


Low posterior hairline

description: Hair on the neck extends more inferiorly than usual.


Whole-immunoglobulin paraproteinemia

description: An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.


Primary Caesarian section

description: Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.


Lack of expressed empathy

description: This term refers to the observation that an affected person tends not to provide situationally appropriate responses to other people in times when these people are in emotional need. For instance, failure to provide comfort to a person who is sad or crying.


Increased HDL2b concentration

description: An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


Abnormal pectoral muscle morphology

description: An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.


carotid artery disorder

description: A disease involving the carotid artery segment.


name: Triangular shaped proximal phalanx of the hallux


Prolonged PR interval

description: Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).


Cerebral germinoma

description: The presence of a germ cell tumor of the cerebrum.


name: Bullet-shaped phalanges of the 3rd finger

description: A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.


name: pretibial dystrophic epidermolysis bullosa

description: Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.


Obstipation

description: Obstipation is the inability to pass either stool or flatus (gas).


Decreased adipose tissue

description: A decrease in the amount of adipose tissue.


Abnormal ankle physiology

description: A functional anomaly of the ankle.


name: Abnormality of the second metatarsal bone


Head-banging

description: Habitual striking of one's own head against a surface such as a mattress or wall of a crib.


Umbilical cord hematoma

description: Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.


name: Elevated circulating complement C3 concentration

description: Concentration of the complement component C3 in the blood circulation above the upper limit of normal.


Kerion

description: Kerion is an erythematous, boggy, tender, often sterile, weeping nodule or plaque with pustules and draining sinuses. Hair in these areas appears lusterless, brittle, and is easily plucked. Kerion can be solitary or multiple but is usually unilateral. Patients with inflammatory tinea barbae may have constitutional symptoms like fever and malaise. Kerion is a coalesced sterile pustule, but occasionally they can get superinfected with cutaneous bacteria and develop regional lymphadenopathy.


Abnormality of the hairline

description: The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.


Blood xenobiotic

description: The presence of a xenobiotic in blood.


Chylolymphatic mesenteric cyst

description: A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid.


Abnormality of the breast

description: An abnormality of the breast.


Short 3rd finger

description: Hypoplastic/small 3rd (middle) finger.


phosphohydroxylysinuria

description: An elevated concentration of phosphohydroxylysine in the urine.


Abnormal uvula morphology

description: Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.


High-pitched bowel sounds

description: Abnormal bowel sounds of an unually high frequency.


Abnormal corpus cavernosum morphology

description: A structural anomaly of the corpus cavernosum, the erectile tissue of the penis.


Sloping ulnar metaphysis

description: A sloped configuration of the metaphysis (shaft) of the ulna.


Bicoronal synostosis

description: Synostosis affecting the right and the left coronal suture.


Bilateral renal atrophy

description: A two-sided form of atrophy of the kidney.


name: Cone-shaped epiphysis of the distal phalanx of the 4th finger

description: A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


Curved middle toe phalanx

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


name: Separate origin of the left anterior descending and left circumflex artery

description: Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).


Foam cells

description: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.


Large sella turcica

description: An abnormal enlargement of the sella turcica.


Brain parenchymal tuberculoma

description: Tuberculoma results from hematogenous spread of Mycobacterium tuberculosis (M. tb) from an extracranial source. Diagnosis is based on computed tomography (CT) scan and magnetic resonance imaging (MRI) studies with a similar ring-enhancing lesion.


Bitemporal forceps marks

description: Bilateral temporal scarlike defects, which are said to resemble forceps marks.


Increased PIVKA-II

description: Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells.


Abnormal ureter physiology

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


Nuchal cord

description: A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.


Paravertebral mass

description: A swelling or enlargment localized next to the vertebral column. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Cold-induced sweating

description: Sweating provoked by cold temperature rather than by heat.


Tracheal hemorrhage

description: Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy.


Obsessive-compulsive trait

description: The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.


Mucin casts

description: A type of airway casts that consist of impacted mucus.


Delayed pubic bone ossification

description: Delayed maturation and calcification of the pubic bone.


name: Abnormal circulating hepcidin concentration

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


Irregular epiphyses of the 3rd finger

description: Irregular radiographic opacity of the epiphyses of the 3rd finger.


name: Focal impaired awareness motor seizure with negative myoclonus

description: A focal motor seizure with negative myoclonus characterized by impairment of awareness at some point during the seizure.


Caudal appendage

description: The presence of a tail-like skin appendage located adjacent to the sacrum.


name: Increased circulating free T4 concentration

description: An elevated concentration of free thyroxine (fT4) in the blood circulation.


Enlarged metacarpal epiphyses

description: Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges).


name: Abnormal blood monovalent inorganic cation concentration

description: An abnormality of monovalent inorganic cation homeostasis.


Bouchard's node

description: Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.


Stereotypical hand wringing

description: Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement.


Abnormal VLDL cholesterol concentration

description: Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.


name: Elevated circulating 2-hydroxybutyric acid concentration

description: Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.


name: Periosteal thickening of long tubular bones

description: Thickening of the periosteum of long bone.


Angular cheilitis

description: A type of inflammation of the lips involving one or both of the corners of the mouth.


Broad nasal tip

description: Increase in width of the nasal tip.


name: Abnormal serum bicarbonate concentration

description: Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.


Prominent antitragus

description: Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.


name: Leydig cell insensitivity to gonadotropin


Delayed humeral epiphyseal ossification

description: A delay in the process of formation and maturation of the humeral epiphysis.


name: Decreased serum insulin-like growth factor 1

description: A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.


Spina bifida occulta at S1

description: The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.


name: Abnormal bone collagen fibril morphology

description: Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.


name: Decreased amyloid beta 42 peptide CSF concentration

description: A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).


Abnormal synovial membrane morphology

description: Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products.


Infection due to encapsulated bacteria

description: An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines.


Abnormal earlobe morphology

description: An abnormality of the lobule of pinna.


name: Anti-tyrosyl-tRNA synthetase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase.


Involuntary movements

description: Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.


Ambiguous genitalia, female

description: Ambiguous genitalia in an individual with XX genetic gender.


name: Smoker-inclusions in alveolar macrophages

description: In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.


palatal neoplasm

description: A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula.


Abnormal humerus morphology

description: Any anomaly of the structure of the humerus.


name: Iappropriately low concentration of beta-hydroxybutyrate

description: Lower than appropriate concentration of beta-hydroxybutyrate in states such as hypoglycemia in which the normal response would be to elevate acetoacetate.


Livedo racemosa

description: Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.


Arcuate artery intima/media arteriitis

description: Inflammation of the inner or middle layer of the arcuate arteries of the kidney.


name: Recurrent upper and lower respiratory tract infections

description: Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.


Hypoplastic areola

description: Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.


Paroxysmal vertigo

description: Paroxysmal episodes of vertigo.


name: Renal tubular cytomegalovirus inclusions

description: Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.


Diaphragmatic paralysis

description: The presence of a paralyzed diaphragm.


name: Anomalous origin of one pulmonary artery from ascending aorta

description: Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.


name: Pigmentation anomalies of sun-exposed skin


Enlarged epiphyses

description: Increased size of epiphyses.


Abnormal superior vena cava morphology

description: Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.


Bronchial artery dilatation

description: Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.


name: Enlarged epiphysis of the distal phalanx of the thumb

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


name: Patchy sclerosis of the distal phalanx of the thumb

description: An uneven increase in bone density of the distal phalanx of the thumb.


Ileal ulcer

description: An erosion of the mucous membrane in a portion of the ileum.


Opposable triphalangeal thumb

description: A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.


Bilateral facial palsy

description: Two-sided or bilateral weakness of the muscles of facial expression and eye closure.


name: Abnormality of the musculoskeletal system

description: An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.


name: Positive oropharangeal infectious agent test

description: Any kind of test for an infectious agent in the oropharynx positive. The oropharynx is defined as the middle part of the throat and includes the soft palate, the side and back walls of the throat, the tonsils, and the posterior one-third of the tongue.


Excessive interest in others

description: A strong desire to interact and engage with others that is perceived to be inappropriate or excessive in the context of cultural norms.


Abnormal platelet function

description: Any anomaly in the function of thrombocytes.


name: Increased circulating creatine kinase BB isoform

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


name: Elevated urine 3-methyl-2-oxovaleric acid level

description: Increased amount of 3-methyl-2-oxovaleric acid in the urine.


name: Elevated urinary ureidopropionic acid level

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


name: Abnormal circulating vitamin B6 concentration

description: An abnormal concentration of vitamin B6 in the blood circulation.


name: Anti-phenylalanyl tRNA synthetase antibody positivity

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


name: Anti-coagulation factor antibody positivity

description: The presence of an antibody in the blood circulation that is directed against a coagulation factor.


Abnormal esophagus physiology

description: Any physiological abnormality of the esophagus.


Hyperimidodipeptiduria

description: Elevated levels of proline-containing dipeptides in urine.


Poor conversational reciprocity

description: Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level.


description: A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.


Neonatal seizure

description: A seizure occurring within the neonatal period (28 days beyond the full term date).


Tubo-ovarian abscess

description: A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease.


Abnormal corticospinal tract morphology

description: Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.


Elevated urinary 3-hydroxybutyric acid

description: An increased amount of 3-hydroxybutyric acid in the urine.


EEG with central focal spikes

description: EEG with focal sharp transient waves of a duration less than 80 msec in the central region.


name: Arcuate vein medial/intimal liquefactive necrosis

description: A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Abnormality of the trapezium

description: An anomaly of trapezium.


Focal motor seizure with dystonia

description: A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.


Mucus plug

description: Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection.


Aplasia/Hypoplasia of the sweat glands

description: Absence or developmental hypoplasia of the sweat glands.


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


Difficulty running

description: Reduced ability to run.


Patchy hypopigmentation of hair

description: Reduced pigmentation of hair in patches.


Generalized weakness of limb muscles

description: Generalized weakness of the muscles of the arms and legs.


name: Anterior beaking of lower thoracic vertebrae

description: Anterior tongue-like protrusions of the lower thoracic vertebral bodies.


Aortic arch calcification

description: Calcification, that is, pathological deposition of calcium salts in the arch of aorta.


name: Decreased post-bronchodilator forced expiratory volume in one second

description: An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication.


Glomerular subendothelial widening

description: Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.


Prolonged partial thromboplastin time

description: Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.


name: Aplasia of the distal phalanx of the thumb

description: Absence of the distal/terminal phalanx of the thumb.


Increased serum leptin

description: An increased concentration of leptin in the blood.


name: Anti-islet antigen-2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.


Short thorax

description: Reduced inferior to superior extent of the thorax.


cafe au lait spots, multiple

description: A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.


Immotile sperm

description: A lack of mobility of ejaculated sperm.


Orange discolored tonsils

description: A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.


non-infectious meningitis

description: Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines.


Anti-prothrombin antibody positivity

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


Abnormal cardiac exercise stress test

description: Abnormal results of exercise on heart function.


Tympanic membrane hypermobility

description: Abnormally increased ability to move of the tympanic membrane.


name: Metacarpal diaphyseal endosteal sclerosis

description: Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.


Periosteal elevation

description: Lifting or separation of the periosteum from the outer surface of a bone. Periosteal elevation is usually seen in benign process, frequently in cranioencephalic traumas. There is an elevation of the periosteum after blood, like in cephalohematomas.


name: Triangular shaped distal phalanges of the toes


Congenital palmoplantar hyperkeratosis

description: Abnormal thickening of the skin on the palms and soles that is present at birth.


Perivascular dermis hyaline deposition

description: Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the dermis layer of the skin.


name: Linear C3 deposits along the epidermal basement membrane zone

description: Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


Abnormal circulating osteocalcin level

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


Aplasia/Hypoplasia of the gallbladder

description: Absence or underdevelopment of the gallbladder.


Portosystemic collateral veins

description: Presence of biliary veins that serve as a collateral channel to the systemic circulation


Recurrent sinopulmonary infections

description: An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.


Short proximal phalanx of finger

description: Congenital hypoplasia of one or more proximal phalanx of finger.


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


name: Abnormal circulating citrulline concentration

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


name: Decreased circulating hepcidin concentration

description: Concentration of hepcidin in the blood circulation below the lower limit of normal.


Pseudoepiphyses of the metacarpals

description: A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.


nasal bones, absence of

description: Absence of the nasal bone.


name: short stature due to primary acid-labile subunit deficiency

description: Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.


name: Abnormal circulating proteinogenic amino acid concentration

description: An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.


Membranous subvalvular aortic stenosis

description: Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.


name: Decreased monosialylated core 1 O-glycan level

description: An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins.


name: Abnormal circulating hepatic transaminase concentration

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


Spinal dysraphism

description: A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.


Abnormal facial skeleton morphology

description: An abnormality of one or more of the set of bones that make up the facial skeleton.


2-3 finger syndactyly

description: Syndactyly with fusion of fingers two and three.


name: Elevated circulating biotinidase concentration

description: Concentration of biotinidase in the blood circulation above the upper limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.


Abnormal substantia nigra morphology

description: A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry.


name: Decreased specific antibody response to protein vaccine

description: A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.


Cardiac fibroma

description: A fibroma of the heart.


name: Hypoplastic posterior communicating artery

description: A developmental anomnaly characterized by underdevelopment of the posterior communicating artery.


Abnormality of cranial sutures

description: Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.


name: Stippling of the epiphyses of the hallux

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.


Cervical agenesis

description: Congenital absence of the uterine cervix.


Tapered finger

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


Focal cortical dysplasia type IIIc

description: A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).


name: Irregular epiphyses of the proximal phalanges of the hand


Cold-sensitive myotonia

description: An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.


Shoulder extension contracture

description: Lack of the full expected passive range of flexion of the shoulder joint (Shoulder flexion puts the arms from a resting position at one's sides to straight above the head; thus, with shoulder extension contracture it is not possible to raise the arms above the head fully).


Myoclonic absence status epilepticus

description: Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.


Fine hair

description: Hair that is fine or thin to the touch.


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


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

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


name: Premature fusion of phalangeal epiphyses

description: Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.


Short femoral neck

description: An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


Aggression toward non-caregivers

description: Aggression that is directed towards non-caregivers.


Distended jugular lymphatic sacs

description: The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency.


Hyperpigmented papule

description: A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.


Sweet craving

description: Excessive desire to eat sweet foods.


name: Positive Bartonella henselae nucleic acid test in the blood circulation

description: Detection of nucleic acid of Bartonella henselae in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.


Impaired platelet adhesion

description: An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.


Shortening of all metacarpals

description: Abnormal reduction in length of all metacarpal bones.


name: Abnormal sex hormone-binding globulin level

description: A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.


High-grade vesicoureteral reflux

description: Vesicoureteral reflux with dilation of the renal calyces (Grade III - V).


Inferiorly positioned umbilicus

description: The position of the umbilicus (belly button) is abnormally low (inferior).


Enuresis diurna

description: Enuresis occurring during waking hours of the day.


Elevated circulating CCL4 concentration

description: The concentration of C-C Motif Ligand 4 (CCL4) in the blood circulation is above the upper limit of normal.


Rhizomelic leg shortening

description: Disproportionate shortening of the proximal segment of the leg (i.e. the femur).


Jaw hyporeflexia

description: Reduced intensity of muscle tendon reflexes in jaw.


name: Mixed demyelinating and axonal polyneuropathy


description: The presence of antibodies in the blood circulation that react against a component of the Zika virus.


Abnormal columella morphology

description: A structural abnormality of the columella.


Abnormality of the integument

description: An abnormality of the integument, which consists of the skin and the superficial fascia.


Deformed rib cage

description: Malformation of the rib cage.


Mesoaxial foot polydactyly

description: The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.


Jumping

description: An excessive frequency of jumping in place.


Abnormal cardiac test

description: Abnormal test result of cardiovascular physiology.


name: Reduced quantity of Von Willebrand factor

description: Decreased quantity of von Willebrand factor.


commissural lip pits

description: A depression located at an oral commissure.


name: Amplification of comfort with casual physical contact

description: An increase in the tendency of a person to be comfortable with physical contact with others compared to that person's previous norm.


Adrenal mass

description: A swelling or enlargment localized to the adrenal gland. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Few cafe-au-lait spots

description: The presence of two to five cafe-au-lait macules.


Long foot

description: Increased back to front length of the foot.


Small intestinal hamartoma

description: A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the small intestine.


Electrical alternans

description: The QRS complexes of the electrocardiogram alternate in height.


Vascular ring

description: A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.


epididymal neoplasm

description: A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.


Recurrent staphylococcal infections

description: Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.


Triangular epiphyses of the 2nd finger

description: A triangular appearance of the epiphyses of the 2nd finger of the hand.


Aplasia/Hypoplasia of the nails

description: Aplasia or developmental hypoplasia of the nail.


Hypertrophy of the lower limb

description: Abnormal increase in size of the lower limbs (due to an increase of the size of cells).


name: Elevated CSF hydroxyproline concentration


name: Partial duplication of the middle phalanx of the 2nd finger

description: Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.


Pain insensitivity

description: Inability to perceive painful stimuli.


Hand pain

description: An unpleasant sensation characterized by physical discomfort localized to the hand.


splenic abscess

description: An abscess that is located in the spleen.


Coiled sperm flagella

description: Sperm cells whose flagella are twisted (coiled).


name: Aplasia of the proximal phalanx of the 4th toe


name: Globus pallidus hypointensity on susceptibility-weighted imaging

description: Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


Bladder duplication

description: A congenital anomaly characterized by the presence of two bladders.


Hyperglycorrhachia

description: Abnormally high glucose concentration in the cerebrospinal fluid.


Relative macrocephaly

description: A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.


Narrow face

description: Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).


Crumpled ear

description: Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.


name: Abnormal pigmentation of the oral mucosa

description: An abnormality of the pigmentation of the mucosa of the mouth.


Disproportionate tall stature

description: A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.


Focal hyperkinetic seizure

description: A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.


Abdominal distention

description: Distention of the abdomen.


name: Cortical thickening of humeral diaphysis


name: Focal impaired awareness head nodding automatism seizure

description: A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset.


Multiple long-bone exostoses

description: Multiple exostoses originating in long bones.


Pancreatic hamartoma

description: A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the pancreas.


ovarian sex cord-stromal tumor

description: A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.


Diaphragmatic weakness

description: A decrease in the strength of the diaphragm.


name: Anti-myelin oligodendrocyte glycoprotein antibody positivity

description: Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.


Cautious gait

description: Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.


name: Recurrent infections in infancy and early childhood

description: Recurrent infections at an early age with improvement in later childhood.


Congenital earlobe sinuses

description: Pits in the earlobes at the location where ears are typically pierced for earrings.


Abnormal serum estrone

description: A deviation from the normal concentration of circulating estrone.


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


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


Brachiocephalic artery aneurysm

description: An abnormal widening (dilatation) of the brachiocephalic artery


name: EEG with hyperventilation-induced focal epileptiform discharges

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


name: Anti-phosphatidyl ethanolamine antibody positivity

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


Necklace skeletal muscle fibers

description: A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules.


name: Abnormal enzyme activity in muscle tissue

description: Deviation from the normal activity of an enzyme in muscle tissue.


Sandal gap

description: A widely spaced gap between the first toe (the great toe) and the second toe.


Duplication of phalanx of 5th finger

description: This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


patent ductus venosus

description: A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).


Anal pain

description: Pain in and around the anus or rectum (perianal region).


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

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


name: Anterior predominant pachygyria with 5-10 mm cortical thickness

description: Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


Delayed patellar ossification

description: Formation of bone in the patella later than normal.


Agenesis of the carotid canal

description: A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.


11 pairs of ribs

description: Presence of only 11 pairs of ribs.


name: Enlarged proximal interphalangeal joints


Focal aware motor seizure

description: A type of focal motor seizure in which awareness is retained throughout the seizure.


name: Abnormal circulating dicarboxylic acid concentration

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