name: Increased urinary non-proteinogenic amino acid level

description: An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


name: Patchy sclerosis of the proximal phalanx of the 4th finger

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

description: Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger.


Fractured acetabular part of hip bone

description: A partial or complete breakage of the acetabular part of hip bone.


Acrobrachycephaly

description: An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.


Abnormal vertebral morphology

description: An abnormality of one or more of the vertebrae.


Prolonged P wave

description: Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction.


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


name: Electron transfer flavoprotein-ubiquinone oxidoreductase defect

description: A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.


Increased proinsulin:insulin ratio

description: An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.


Anti-LAD-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180.


Absent epiphysis of the 1st metatarsal

description: Failure to form (agenesis) of the epiphysis of the 1st metatarsal.


Posttussive emesis

description: Vomiting following a coughing spell.


Curved middle phalanx of the 4th toe

description: A deviation from the normal straight form of the middle phalanx of the fourth toe.


Abnormal muscle fiber gamma sarcoglycan

description: Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.


brachydactyly type A2

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

description: Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.


Alpha-aminoadipic aciduria

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


Abnormal liver lobulation

description: Formation of abnormal lobules (small masses of tissue) in the liver.


Decreased QRS voltage

description: Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.


name: Abnormal circulating cytokine concentration

description: Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.


Linear earlobe crease

description: A transverse linear fissure (crease) in the lobule of the ear.


name: Increased proportion of unswitched memory B cells

description: An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.


Arcuate vein intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney.


Hyperglutaminuria

description: An increased concentration of glutamine in the urine.


name: Increased circulating interleukin 27 concentration

description: An abnormally increased concentration of interleukin 27 in the blood circulation.


Finger pain

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


1-4 toe syndactyly

description: Syndactyly with fusion of toes one to four.


Absent sperm flagella

description: Sperm cells lacking flagella.


Precocious costochondral ossification

description: Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.


name: transient hypogammaglobulinemia of infancy

description: A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.


Positive norpropoxyphene blood test

description: Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene.


Hypothalamic hypometabolism in FDG PET

description: Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan.


Elevated thallium cadmiun concentration

description: The concentration of thallium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.


hyperemesis gravidarum

description: Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances.


name: Delayed phalangeal epiphyseal ossification

description: Delay in the process of formation and maturation of the epiphysis of one or more phalanx.


Dairy allergy

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


Intracranial dermoid cyst

description: A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.


Bowing of the long bones

description: A bending or abnormal curvature of a long bone.


Absent toe

description: Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.


Recurrent Neisserial infections

description: Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).


Bull's eye rash

description: A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.


Abnormal drug response

description: An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.


Dental crowding

description: Changes in alignment of teeth in the dental arch


Paroxysmal dyskinesia

description: Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.


name: Anti-Bartonella henselae antibody positivity

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


Upper limb muscle hypoplasia

description: Underdevelopment of muscles of the arm.


Short 5th metacarpal

description: Short fifth metacarpal bone.


Central nervous system axonal spheroid

description: Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements.


Narrow palm

description: For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.


Impaired toe-walking ability

description: Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes.


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


Pleural effusion

description: The presence of an excessive amount of fluid in the pleural cavity.


Gordon reflex

description: Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).


Thickened aortic valve cusp

description: An abnormally increased thickness of a leaflet of the aortic valve.


Adenomatous colonic polyposis

description: Presence of multiple adenomatous polyps in the colon.


Post-vaccination rotavirus infection

description: Infection with live attenuated rotavirus vaccine following vaccination.


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

description: Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: Osteolytic defects of the proximal phalanx of the 5th toe


name: Reduced muscle myoadenylate deaminase activity

description: Diminished activity of the enzyme myoadenylate deaminase. Myoadenylate deaminase is the muscle isoform of adenosine monophosphate (AMP) deaminase and catalyzes the deamination of AMP to inosine monophosphate and ammonia.


Generalized aminoaciduria

description: An increased concentration of all types of amino acid in the urine.


name: Abnormal urine isobutyrylglycine concentration

description: Abnormal concentration of isobutyrylglycine in the urine.


Decreased complex N-glycan level

description: An abnormal decrease in the concentration of complex N-glycans on glycoproteins.


Anti-Th/To antibody positivity

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


Enlarged cerebellum

description: An abnormally increased size of the cerebellum compared to other brain structures.


Hypoplastic hippocampus

description: Underdevelopment of the hippocampus.


name: Decreased circulating UDP glucose-4-epimerase concentration

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


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

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


Excessively loud speech

description: Speech which is abnormally loud that is not due to a structural or muscular abnormality.


Vasculitis by anatomical site

description: Vasculitis categorized according to the anatomical site where the finding is localized.


Focal behavior arrest seizure

description: A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.


name: Reduced brain gamma-aminobutyric acid level by MRS

description: An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).


Abnormal urinary inosine level

description: The amount of inosine in the urine, normalized for urine concentration, is outside the limits of normal.


Impaired ability to organize

description: Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine.


name: Calcification of the interosseus membrane of the forearm

description: Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.


Enlarged peroxisomes

description: Abnormal increase in size of peroxisomes.


Bullet-shaped 1st metacarpal

description: The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped").


Otitis media with effusion

description: Otitis media characterized by thick or sticky fluid behind the tympanic membrane.


Folie à deux

description: Delusional beliefs are transmitted from one individual to another.


Abdominal cramps

description: A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.


Diffuse subcortical band heterotopia

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


Short lower limbs

description: Shortening of the legs related to developmental hypoplasia of the bones of the leg.


name: Patchy sclerosis of the middle phalanx of the 4th toe

description: Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Sclerosis of the proximal phalanx of the thumb

description: An elevation of bone density in the proximal phalanx of the thumb.


Aplasia of the ulna

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


EEG with constitutional variants

description: An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.


rhombencephalosynapsis

description: Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterized by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.


Nipple tenderness

description: Pain or discomfort produced by touching the nipple.


name: Macrodontia of permanent maxillary central incisor

description: Increased size of the maxillary central secondary incisor tooth.


name: Prolonged somatosensory evoked potentials


name: Increased circulating free fatty acid level

description: A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.


Thenar muscle atrophy

description: Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.


Left ventricular aneurysm

description: A severely scarred portion of infarcted ventricular myocardium that does not contract normally but instead bulges outward while the rest of the ventricle contracts during systole.


name: Abnormal peripheral nerve morphology by anatomical site

description: Abnormal morphology of a specific peripheral nerve


name: Duplication of the proximal phalanx of the 5th toe

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


name: Cone-shaped epiphysis of the 1st metatarsal

description: A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.


Decreased CSF creatinine concentration

description: Concentration of creatinine in the cerebrrospinal fluid below the lower limit of normal.


name: Irregular epiphysis of the distal phalanx of the 2nd toe


name: Partial duplication of the distal phalanx of the 5th finger

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


name: Arcuate vein intimal/medial myxomatous degeneration

description: Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney.


Abnormal left ventricle morphology

description: Any structural abnormality of the left ventricle of the heart.


Abnormal CSF amino acid concentration

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


Hypoplastic male external genitalia

description: Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).


name: Neonatal electro-clinical seizure with behavior arrest

description: Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.


Abnormal subclavian artery morphology

description: Any anomaly of a subclavian artery.


Short 5th toe

description: Underdevelopment (hypoplasia) of the fifth toe.


name: Decreased circulating prealbumin concentration

description: Concentration of prealbumin in the blood circulation below the lower limit of normal. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.


EEG with parietal focal spikes

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


Broad 5th toe

description: A broad appearance of the fifth toe.


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


Unusual protozoan infection

description: An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.


name: Positive CSF pathogen-specific antibody positivity

description: Positive serology in the cerebrospinal fluid (CSF) for a exposure to an infectious agent (i.e., examining CSF for the presence of pathogen-specific antibodies).


name: Aplasia/Hypoplasia of the phalanges of the 2nd toe


name: Elevated circulating dodecanoylcarnitine concentration

description: Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal.


Sclerosis of distal toe phalanx

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


congenital radioulnar synostosis

description: Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.


Severe B lymphocytopenia

description: A severe form of B lymphocytopenia in which the count of B cells is very low or absent.


varicocele

description: A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.


creatine phosphokinase, elevated serum

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


name: Abnormal circulating sarcosine concentration

description: An deviation from the normal concentration of sarcosine in the blood circulation.


Decreased retinol-binding protein level

description: A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.


Cubitus valgus

description: Abnormal positioning in which the elbows are turned out.


Xanthine nephrolithiasis

description: The presence of xanthine-containing calculi (stones) in the kidneys.


name: Diffuse reticular or finely nodular infiltrations


name: Reduced glycerol kinase activity in cultured fibroblasts

description: Acitivity of glycerol kinase (EC 2.7.1.30) below the lower limit of normal in cultured fibroblasts.


Elevated aromatase activity

description: Enzyme activity of aromatase above the upper limit of normal.


Bilateral ductus arteriosus

description: The presence of both a left and a right ductus arteriosus.


Methioninuria

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


Conical primary incisor

description: An abnormal conical morphology of the primary incisor.


Alien limb phenomenon

description: Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.


Typical atrial flutter

description: Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.


Abnormal cell morphology

description: Any anomaly of cell structure.


autonomic nervous system neoplasm

description: Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.


Stress urinary incontinence

description: Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.


GM1-ganglioside accumulation

description: Cellular accumulation of GM1 gangliosides.


name: Abnormal periventricular white matter morphology

description: A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.


Chronic decreased circulating IgD

description: A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood.


Bronchial diverticula

description: Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum.


name: Positive treponema pallidum PCR test in the blood circulation

description: Detection of nucleic acid of treponema pallidum in the blood circulation by a method such a polymerase chain reaction.


name: Abnormal ossification of the trapezoid bone


Thick pachygyria

description: Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.


Proboscis

description: A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.


Hydroxylysinemia

description: An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover.


Cerebral subcortical cyst

description: A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF).


Plasma/serum xenobiotic

description: Presence of a xenobiotic in plasma and/or serum.


Anti-CARP VIII antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII).


Barrel-shaped chest

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


Excessive bleeding after a venipuncture

description: An abnormal high amount of bleeding following the procedure of taking a blood sample.


Underdeveloped stem of antihelix

description: Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix.


Diaphyseal cortical sclerosis

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


V-sign

description: Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.


Bullet-shaped 5th toe phalanx

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


Abnormality of the tonsils

description: An abnormality of the tonsils.


Digital ulcer

description: An open sore on the surface of the skin of a finger or toe.


Short distal phalanx of the 3rd finger

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


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


Lower-limb metaphyseal irregularity

description: Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.


Increased CSF isoleucine concentration

description: Abnormally increased levels of isoleucine in cerebrospinal fluid.


Abnormal esophagus morphology

description: A structural abnormality of the esophagus.


Abnormal sweat homeostasis

description: An abnormality of the composition of sweat or the levels of its components.


Mammary duct ectasia

description: A non-proliferative inflammatory disorder of the large duct (milk duct) of the breast; as such, it affects nipple and areola complex. The condition is characterized by focal dilatation of the lactiferous duct system is due to endoluminal changes, as well as the loss of duct wall elastin, leading to abnormally dilated and tortuous lactiferous ducts with associated periductal inflammation and fibrosis. Mammary duct ectasia may present with nipple discharge or palpable mass.


name: Fragmentation of the epiphyses of the 5th toe


Prominent glabella

description: Forward protrusion of the glabella.


name: Defective DNA repair after ultraviolet radiation damage


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


name: Facial telangiectasia in butterfly midface distribution

description: Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.


Peripheral axonal atrophy

description: Atrophic changes of axons of the peripheral nervous system.


Hypoplasia of deltoid muscle

description: Underdevelopment of the deltoid muscle.


name: Premature fusion of the radial epiphyseal plates

description: A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.


Stiff ankle

description: A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.


Overly formal/pedantic language

description: Use of language that is overly formal, precise, detailed, or pedantic for the social context.


name: Tapering pointed ends of distal finger phalanges

description: A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).


Inlet ventricular septal defect

description: A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.


Cortical thinning of foot bones

description: A reduction in the thickness of the outer shell (cortex) of foot bones.


name: Focal aware perseverative automatism seizure

description: A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.


name: Cone-shaped epiphyses of the phalanges of the hand

description: A cone-shaped appearance of the epiphyses of the fingers 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.


Pruritis on hand

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand.


Abnormal HDL3b concentration

description: Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


name: Abnormal ulnar styloid process morphology


Abnormal renal tubular resorption

description: An abnormality of renal absorption.


name: Focal impaired awareness cognitive seizure with dyslexia/alexia

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


P wave inversion

description: P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.


Thick nasal septum

description: Abnormally increased thickness of the nasal septum.


name: Abnormal response to endocrine stimulation test

description: An anomalous response to a test that is designed to probe the function of the endocrine system.


name: Aplasia/Hypoplasia of the phalanges of the toes


name: Abnormal connection of the cardiac segments

description: A deviance in the normal connections between two cardiac segements.


Food allergy

description: Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.


Hair xenobiotic

description: Presence of xenobiotic in hair.


Multiple lineage myelodysplasia

description: Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.


male reproductive system neoplasm

description: A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.


Transudative pleural effusion

description: A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.


Trapezoidal vertebral body

description: An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side.


Fractured epiphysis of femur

description: A partial or complete breakage of the epiphysis of femur.


Abnormal plasma cell count

description: An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.


Cow milk allergy

description: Hypersensitivity in form of an adverse immune reaction against cow milk protein.


Intracranial cystic lesion

description: A cystic lesion originating within the brain.


name: atrial septal defect, sinus venosus type

description: An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.


Thimble-shaped middle phalanges of hand

description: The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.


Abnormal choanae morphology

description: Abnormality of the choanae (the posterior nasal apertures).


Abnormality of the frontal hairline

description: An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.


Monoclonal elevation of IgG heavy chain

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain.


Cervical segmentation defect

description: An abnormality related to a defect of vertebral separation of cervical vertebrae during development.


Abnormal CSF citrulline concentration

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


name: Reduced neutrophil myeloperoxidase activity

description: Concentration or activity of myeloperoxidase (EC 1.11.1.7) as measured in neutrophils is below the limits of normal.


name: Glomerular basement membrane lamellation

description: Presence of abnormal additional layers of the basement membrane of the glomerulus.


Abnormal renal tubular lumen morphology

description: Abnormal structure or form of the lumen (opening) of kidney tubules.


Right atrial isomerism

description: Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.


transposition of the great arteries

description: A congenital cardiac defect in which two heart vessels are reversed (transposed).


Prominent U wave

description: Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave.


name: Absent dorsal skin creases over affected joints


tympanic paraganglioma

description: A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.


Myocardial bridging

description: A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.


Left atrial enlargement

description: Increase in size of the left atrium.


name: Reduced leukocyte alpha-L-fucosidase activity

description: Concentration or activity of an alpha-L-fucosidase as measured in leukocytes is below the limits of normal.


Bowing of the vocal cords

description: Bowing (abnormal curvature) of the vocal folds.


name: Sclerosis with transverse striations in metaphyses of the upper limbs


Abnormal scalp morphology

description: Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.


Absent in utero rib ossification

description: Lack of formation and mineralization of the ribs in utero.


Chilblains

description: Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.


Split hand

description: A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.


Displacement of the urethral meatus

description: A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).


Ectopic scrotum

description: Scrotum in a position other than the usual position inferior to the base of the penis.


Neuroepithelial cyst

description: A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality.


Premature closure of fontanelles

description: Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.


Subcortical heterotopia

description: A form of heterotopia were the mislocalized gray matter is located deep within the white matter.


Hemimacroglossia

description: Increased length and width of one half of the tounge.


pili torti

description: Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.


perineural cyst

description: Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.


Decreased female libido

description: Diminished sexual desire in female.


Rudimentary fibula

description: Absent or nearly absent fibula. (Does not include aplastic)


Temporal bossing

description: Prominence (bulging) in the temple region, which is the part of the skull where the frontal, parietal, temporal, and sphenoid bones join on the side of the head.


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


Architectural distortion of the lung

description: Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss.


Hypoasparaginemia

description: A decreased amount of asparagine in the blood.


name: Abnormal circulating prostaglandin circulation

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


Substantia nigra gliosis

description: Focal proliferation of glial cells in the substantia nigra.


Abnormal alveolar macrophage morphology

description: Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.


Abnormality of zygomaticus major muscle

description: An abnormality of a zygomaticus major muscle.


name: Elevated circulating tiglylglycine concentration

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


Decreased platelet P2Y12 receptor

description: Decreased cell membrane concentration of P2Y12 receptor.


name: Elevated circulating S-sulfocysteine concentration

description: Concentration of S-sulfocysteine in the blood circulation above the upper limit of normal.


Leucine crystalluria

description: The presence of leucine crystals in the urine.


Abnormal peer relationships

description: The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships or lacking close friends.


Thought blocking

description: The interruption of speech causes an abnormal period of silence, followed by a sudden switch to an unrelated topic. Some may describe the experience as an abrupt emptying of the mind or the belief that an external force removed their thoughts from their head.


name: Sclerotic foci of metaphyses of the elbow


Lower-limb joint contracture

description: A limitation in the passive range of motion of a joint of the lower limb 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.


Abnormal fetal pulmonary morphology

description: An anomalous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


name: Apneic episodes precipitated by illness, fatigue, stress

description: Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.


name: Abnormal circulating selenium concentration

description: Any deviation from the normal circulating concentration of selenium.


Decreased facial expression

description: A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.


Elongated mitochondria

description: Increase in length of mitochondria.


Muscle mounding

description: Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds.


Mesomelic short stature

description: A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).


Cubitus varus

description: A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.


name: Underdeveloped inferior crus of antihelix

description: Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.


Shoulder subluxation

description: A partial dislocation of the shoulder joint.


Posterior subluxation of radial head

description: Partial dislocation of the head of the radius in the posterior direction.


Abnormality of the periungual region

description: An abnormality of the region around the nails of the fingers or toes.


name: Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity

description: The activity of 3-hydroxyisobutyryl-CoA hydrolase in the blood corculation is below the lower limit of normal.


Flattened epiphysis

description: Abnormal flatness (decreased height) of epiphyses.


Orthopnea

description: A sensation of breathlessness in the recumbent position, relieved by sitting or standing.


Widely spaced teeth

description: Increased spaces (diastemata) between most of the teeth in the same dental arch.


Abnormal fetal morphology

description: Any structural anomaly of the fetus.


name: Elevated circulating C16 acylcarnitine concentration

description: Concentration of C16 acylcarnitines in the blood circulation above the upper limit of normal. C16 acylcarnitines have a sixteen-carbon acyl chain.


name: Irregular epiphysis of the proximal phalanx of the 4th toe


Elevated urine propionylglycine level

description: Amount of propionylglycine in the urine above the upper limit of normal.


name: Increased immunoglobulin level in body fluid

description: An elevation from normal levels of immunoglobulins in body fluids, such as mucous.


Fractured tarsal bone

description: A partial or complete breakage of the tarsal bone.


Positive ferric chloride test

description: If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.


Absent muscle fiber merosin

description: Lack of merosin protein in the muscle biopsy.


Incomplete bilateral cleft lip

description: Bilateral cleft lip in which the cleft lip on both sides are incomplete (i.e. start from the bottom of the upper lip but do not reach the nasal cavity), or the cleft lip on one is incomplete and a microform on the other side.


name: Positive CSF mycobacterium tuberculosis nucleic acid test

description: Detection of Mycobacterium tuberculosis nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.


name: Abnormality of urine catecholamine level

description: An abnormal amount of urinary catecholamine concentration.


name: Reduced TSH response to thyrotrophin-releasing hormone stimulation test

description: A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.


Crouzon syndrome

description: Crouzon disease is characterized by craniosynostosis and facial hypoplasia.


Palate fistula

description: A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.


Gangliocytoma

description: A low-grade central nervous system tumor composed of dysplastic ganglion cells, usually presenting in children or young adults and located in the cerebral hemispheres.


Autonomic status epilepticus

description: Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.


Left posterior fascicular block

description: Conduction block in the posterior division of the left bundle branch of the bundle of His.


Enanthema

description: A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.


Spastic hemiparetic gait

description: Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster.


name: Abnormality of the third metatarsal bone

description: An abnormality of the third metatarsal bone.


Coated aorta

description: Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans


Increased peripheral myelin thickness

description: Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.


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


Recurrent oral herpes

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


name: Prolonged bleeding after dental extraction

description: Prolonged bleeding post dental extraction sufficient to require medical intervention.


Increased CSF serine concentration

description: Abnormally increased levels of serine in cerebrospinal fluid.


name: Increased circulating 17 hydroxypregnenolone concentration

description: Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids.


Flat capital femoral epiphysis

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


Lower limb asymmetry

description: A difference in length or diameter between the left and right leg.


Suprabasal cleavage

description: Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells.


name: Elevated urine trihydroxycholestanoic acid level

description: Presence of trihydroxycholestanoic acid in the urine. Trihydroxycholestanoic acid is an intermediate in the biosynthesis of cholic acid. Elevated plasma levels of trihydroxycholestanoic acid have been found in patients with Zellweger syndrome.


Periventricular laminar heterotopia

description: A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.


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

description: Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


Pilonidal abscess

description: A hair-containing cyst or sinus usually in the coccygeal region.


ear exostoses

description: A benign bony growth projecting outward from a bone surface within the external auditory canal.


Pancreatic lymphangiectasis

description: The presence of lymphangiectasis in the pancreas.


name: Elevated circulating cholestanol concentration

description: The concentration of cholestanol in the blood circulation is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.


name: Reduced epidermal collagen XVII protein expression


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

description: Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.


name: Elevated circulating phytanic acid concentration

description: An abnormal elevation of phytanic acid.


Mastitis

description: Mastitis is defined as an inflammation of the breast and may or may not be accompanied by infection.


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


Chronic lactic acidosis

description: A chronic form of lactic acidemia.


Atypical sorting

description: Atypical focus on arranging, balancing, or positioning objects; may be atypical in focus or intensity.


name: Abnormal greater palatine artery morphology

description: An abnormality of a greater palatine artery.


nevus anemicus

description: A capillary vascular anomaly that is characterized by hypopigmented macules.


Absent vertebra

description: A developmental defect characterized by agenesis of one or more vertebral bodies.


name: Absent or minimally ossified vertebral bodies


Restrictive ventricular septal defect

description: Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.


Abnormal gastrointestinal motility

description: An anomaly of the muscular contractions that propel food though the gastrointestinal tract.


name: Decreased thyroid-stimulating hormone level

description: Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.


name: Elevated circulating chitotriosidase activity

description: Increased activity or concentration of the enzyme chitotriosidase. Serum chitotriosidase is a biomarker that has shown high specificity and sensitivity in patients with sarcoidosis.


Abnormal brain glutamine level by MRS

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


name: Abnormal circulating acylcarnitine concentration

description: Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.


name: Pseudoepiphyses of the phalanges of the hand

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


name: Renal interstitial neutrophil infiltration

description: Increased numbers of neutrophils in the interstitial tissues of the kidney.


Low cholesterol esterification rate

description: A reduction in the rate of cholesterol esterification.


Impaired ability to bathe oneself

description: This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing.


Reduced circulating catalase activity

description: Activity or concentration of catalase in the blood circulation below the lower limit of normal.


Aplasia/Hypoplasia of the 4th finger

description: A small/hypoplastic or absent/aplastic 4th (ring) finger.


Frontal upsweep of hair

description: Upward and/or sideward growth of anterior hair.


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

description: An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


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


name: Venous varicosities of celiac and mesenteric vessels

description: Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.


Elevated urinary thymine level

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


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


Renal tubular epithelial cell mitosis

description: Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.


Palmar hyperlinearity

description: Exaggerated skin markings (dermatoglyphics) on the palms of the hand.


Slender toe

description: Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.


name: Complete heart block with broad QRS complexes

description: A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.


Abnormal pons morphology

description: A structural abnormality of the pons.


name: Abnormal circulating glutamine family amino acid concentration

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


Abnormal bronchus physiology

description: Any anomaly of the function of the bronchi.


Subungual fibromas

description: The presence of fibromata beneath finger or toenails.


Abnormal mitochondrial morphology

description: Any structural anomaly of the mitochondria.


Small epiphyses of the 3rd finger

description: Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms.


Hypochondriac delusion

description: Bodily preoccupation, disease phobia, and a false fixed conviction of the presence of disease with no response to reassurance.


Cerebral cortical hemiatrophy

description: Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.


EEG with occipital slowing

description: Slowing in occipital areas of the scalp EEG.


name: Reduced blood 5-methyltetrahydrofolate level

description: A decreased concentration of 5-methyltetrahydrofolate in the blood.


Focal emotional seizure with crying

description: Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.


name: Decreased circulating complement C9 concentration

description: Concentration of the complement component C9 in the blood circulation below the lower limit of normal.


Abnormal hairshaft morphology

description: An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin.


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

description: Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.


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


Reduced gamma-glutamyltransferase level

description: Decreased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.


Limitation of joint mobility

description: A reduction in the freedom of movement of one or more joints.


Wide capital femoral epiphyses

description: Abnormally wide morphology of the proximal epiphysis of the femur.


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger.


Reduced isohemagglutinin level

description: Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


premature ejaculation

description: A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it.


name: Swelling of proximal interphalangeal joints


name: Aplasia/Hypoplasia of the middle phalanx of the 3rd finger


name: Elevated urine phenylpropionylglycine level

description: Level of phenylpropionylglycine in urine above upper limit of normal.


Triceps areflexia

description: Inability to elicit triceps tendon reflex.


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

description: This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. 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.


name: Partial duplication of phalanx of the 2nd toe

description: Partial duplication of a phalanx of second toe.


name: Bullet-shaped middle phalanx of the 4th 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 middle phalanx of the 4th finger is affected.


Abdominal wall mass

description: An abnormal enlargement or swelling localized to the abdominal wall (the skin, fascia, and muscle encases the abdominal cavity and viscera). 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: Single ventricle of indeterminate morphology


name: Decreased circulating heparan sulfate level

description: An abnormal decrease in the concentration of heparan sulfate in the blood.


Increased urinary cysteine level

description: An increased concentration of cysteine in the urine.


Brainstem dysplasia

description: A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.


name: Perivascular pre-capillary pulmonary artery inflammation

description: Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).


unilateral polymicrogyria

description: Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.


Coronal hypospadias

description: A mild form of hypospadias in which the urethra opens just under the corona glandis.


Decreased skull ossification

description: A reduction in the magnitude or amount of ossification of the skull.


Abnormal serum estradiol

description: A deviation from normal concentrations of estradiol in the circulation.


Increased CSF xylitol concentration

description: The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal.


Oligoclonal T cell expansion

description: The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.


patella aplasia/hypoplasia

description: Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.


Middle mediastinal mass

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


name: Irregular ossification of the humeral epiphyses


name: Decreased serum testosterone concentration


name: Reduced in vitro contracture test threshold

description: The in vitro contracture test determines the sensitivity of freshly obtained skeletal muscle specimens to caffeine or halothane applied to a bathing solution. Muscles from persons susceptible to malignant hyperthermia have lower contracture thresholds for these agents than do normal muscle.


Elevated plasma pyrophosphate

description: An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.


name: Decreased level of platelet-activating factor


cluster headache syndrome

description: A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms.


4-5 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 4 and 5.


Positive stool giardia antigen

description: Test for giardia antigen in stool such as immune assay or DFA positive.


name: Elevated urinary 2-hydroxyisocaproic acid level

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


Excessive cerumen

description: An increased quantity of earwax.


Patchy sclerosis of hallux phalanx

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


Upper limb hypertonia

description: Increased muscle tone observed in the arms of the affected person.


EEG with central focal spike waves

description: EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Progressive hypotrichosis

description: Progressively reduced or lacking hair growth.


Metatarsus adductus

description: The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.


Multiple suture craniosynostosis

description: Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.


name: Decreased circulating complement factor I concentration

description: Concentration of the complement component factor I in the blood circulation below the lower limit of normal.


Mucus in stool

description: Abnormally increased amount of mucus in the feces. Mucus is a slippery aqueous secretion produced by mucous membranes including those of the intestines.


Tarsal sclerosis

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


name: Elevated circulating amyloid A concentration

description: The concentration of serum amyloid A in the blood circulation is above the upper limit of normal.


Cochlear nerve hypoplasia

description: A developmental defect characterized by underdevelopment of the cochlear nerve.


name: Inability to walk by childhood/adolescence


Positive infectious agent test

description: Any kind of test for an infectious agent in a specimen positive.


Scapulohumeral synostosis

description: Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.


Idiosyncratic gesture

description: When one uses gestures that are unique to them and have no apparent meaning to others.


Post-capillary pulmonary hypertension

description: Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).


Biceps hypoplasia

description: Underdevelopment of the biceps muscle.


Cutaneous syndactyly

description: A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.


Duplicated collecting system

description: A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.


Rokitansky-Aschoff gallbladder sinuses

description: Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder).


Decreased serum creatinine

description: An abnormally reduced amount of creatinine in the blood.


Decreased number of sweat glands

description: The presence of fewer than normal sweat glands.


Crossed fused renal ectopia

description: A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.


Decreased body fat percentage

description: The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males.


Uncombable hair

description: Hair that is disorderly, stands out from the scalp, and cannot be combed flat.


Premature thelarche

description: Premature development of the breasts.


name: Perivascular myocardial immune cell infiltration

description: An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.


Renal corticomedullary cysts

description: The presence of multiple cysts at the border between the renal cortex and medulla.


Pseudo-fractures

description: A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture.


Abnormal CSF albumin concentration

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


cortical deafness

description: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.


name: Aplasia/Hypoplasia of the 3rd metacarpal

description: Aplasia or Hypoplasia affecting the 3rd metacarpal.


Monoclonal elevation of IgG kappa chain

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain.


Visceral epithelial cell capping

description: Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.


name: Focal impaired awareness bilateral motor seizure

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


Ectopic anus

description: Abnormal displacement or malposition of the anus.


Abnormal complex N-glycan level

description: An abnormal concentration of complex N-glycans on glycoproteins.


Progressive macrocephaly

description: The progressive development of an abnormally large skull.


Slender metacarpals

description: Decreased width of the metacarpal bones (that is, reduced diameter).


intracerebral hemorrhage

description: Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma.


name: Calcific stippling of infantile cartilaginous skeleton


name: Focal impaired awareness hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.


name: Elevated circulating aconitic acid concentration

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


Increased circulating IgG subclass

description: An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.


name: Anti-mitochondrial M2 antibody positivity

description: The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.


Focal cognitive seizure with illusion

description: A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.


Aplasia/Hypoplasia of the testes

description: Absence or underdevelopment of the testes.


amastia

description: Absence of one or both mammary glands.


Abnormality of the posterior hairline

description: An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.


Hepatic artery hyperplasia

description: Abnormal increase in size of the hepatic arteries.


Cross bite

description: Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth.


Fibrotic muscularis propria

description: The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.


name: Severely reduced left ventricular ejection fraction

description: A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.


name: Prolonged need of intravenous antibiotic therapy

description: Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time.


Abnormal hand epiphysis morphology

description: Any abnormality of the epiphyses of the phalanges or metacarpal bones.


Dumbbell-shaped long bone

description: An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.


Increased helper T cell proportion

description: Increased proportion of helper T cells relative to the total number of T cells.


name: Increased urinary N-acetylglucosamine-rich oligosaccharide level

description: Presence of N-acetylglucosamine-rich oligosaccharides in the urine.


Palmoplantar cutis gyrata

description: Cutis gyrata of palms and soles.


name: Fragmentation of the epiphysis of the proximal phalanx of the hallux


name: Abnormal morphology of left ventricular trabeculae

description: Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).


name: Self-mutilation of tongue and lips due to involuntary movements

description: Uncontrolled movements result in tissue damage to the tongue and lips.


name: Impaired ability to form peer relationships

description: Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, undersand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group.


Abnormal fetal heart outflow tract

description: A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited.


Sertoli cell hyperplasia

description: Abnormal increase in the number of Sertoli cells in the testis.


Posterior pituitary hypoplasia

description: Underdevelopment of the neurohypophysis.


Shield chest

description: A broad chest.


name: Positive CSF toxoplasma gondii nucleic acid test

description: Detection of Toxoplasma gondii nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.


Abnormal P wave

description: Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.


name: Osteolytic defects of the middle phalanges of the hand


Delayed ability to walk with support

description: A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.


Multifocal seizures

description: Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).


Dermal microfilaria

description: Presence of filariae in the skin.


name: Reduced hepatic N-acetylglutamate synthase activity

description: Concentration or activity of N-acetylglutamate synthase in liver tissue below the lower limit of normal.


Aortic tortuosity

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


name: Sclerosis of the distal phalanx of the 2nd toe


Reduced brain creatine level by MRS

description: A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).


Unusual skin infection

description: A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.


T-wave alternans

description: A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.


Neurodevelopmental abnormality

description: A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.


Mesangial hyaline deposition

description: Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.


Fibrin casts

description: A type of airway casts that consist of plasma components and inflammatory cells.


name: Abnormal circulating coenzyme concentration

description: Concentration of a coenzyme (an organic molecule that binds to the active sites of an enzyme to promote the catalysis of a reaction) is above or below the limits of normal.


Abnormal blood phosphate concentration

description: An abnormality of phosphate homeostasis or concentration in the body.


Increased incisura length

description: The length of the incisura from the upper to lower border is greater than that observed in the average population.


Aggression towards caregivers

description: Aggression that is directed towards caregivers.


name: Abnormal morphology of the proximal phalanx of the hallux

description: An abnormal shape or form of the proximal phalanx of the big toe.


Abnormal jaw morphology

description: A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.


Extrapulmonary lobar sequestration

description: A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.


Esophageal fibrosis

description: Fibrosis located in the subepithelial portion of the esophagus. Fibrosisis is defined by the overgrowth, hardening, and/or scarring of various tissues and is attributed to excess deposition of extracellular matrix components including collagen.


name: Elevated circulating Angiotensin-converting enzyme concentration

description: Concentration of angiotensin-converting enzyme (ACE) in the blood circulation above the upper limit of normal.


name: Elevated methylhex-dienedioic level by MRS

description: An increase in the level of 3-methylhex-2,4-dienedioic acid or 3-methylhex-3,4-dienedioic acid in the brain identified by magnetic resonance spectroscopy (MRS).


Elevated urinary beta-alanine level

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


Poor fine motor coordination

description: An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.


name: Entamoeba histolytica antibody positive in stool

description: Demonstration of antibody directed against Entamoeba histolytica in stool.


Decreased inflammatory response

description: An abnormal reduction in the inflammatory response to injury or infection.


Vertical forehead creases

description: Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest.


EMG: positive sharp waves

description: These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.


name: Small epiphysis of the middle phalanx of the 5th toe


Generalized atonic seizure

description: Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.


Spinal hemangioblastoma

description: A hemangioblastoma of the spinal cord.


name: Anti-epidermal transglutaminase antibody positivity

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


Onychogryposis of fingernail

description: Thickened fingernails.


Anti-U11/U12 RNP antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP.


Monoclonal elevation of intact IgG

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.


name: Abnormal enzyme concentration or activity

description: Concentration or activity of an enzyme is above or below the limits of normal.


tracheal stenosis

description: Narrowing of the lumen of the trachea.


Dilatation of an abdominal artery

description: Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta.


Hoffmann sign

description: A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.


Maternal first trimester fever

description: The occurence of fever in a mother during the first trimester of pregnancy.


Orotic acid crystalluria

description: Formation of crystals owing to an increased concentration of orotic acid in the urine.


EEG with frontal focal spikes

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


Elevated sweat chloride

description: An increased concentration of chloride in the sweat.


Focal aware manual automatism seizure

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


Multiple trichilemmomata

description: Presence of multiple trichilemmomata, a benign tumor originating from the outer root sheath of the hair follicle.


Fractured proximal phalanx of digit 3

description: A partial or complete breakage of the proximal phalanx of digit 3.


Abnormal femoral epiphysis morphology

description: An anomaly of a growth plate of a femur.


Avoidance of emotional intimacy

description: An atypically high tendency to avoid interpersonal exchanges characterizing by sharing of personal feelings, expressions of understanding, affirmation, and demonstrations of caring.


Vertebral artery hypoplasia

description: Underdevelopment of the vertebral artery.


Hypoplasia of the semicircular canal

description: Underdevelopment of the semicircular canal.


name: 1-5 finger complete cutaneous syndactyly


Gemination

description: The development of two teeth from a single tooth bud, leading to a larger fused tooth.


Anti-RuvBL1/2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2.


Squamosal suture synostosis

description: Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones.


Thumb adduction contracture

description: A type of thumb contracture characterized by a chronic reduction in active and passive ability of the metacarpal-phalangeal and/or interphalangeal joints of the thumb to bring from medial side to neutral position, where the neutral position for the thumb is when the distal and proximal segments of the thumb joint are in linear alignment.


name: Ivory epiphysis of the proximal phalanx of the thumb

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


name: Abnormal von Willebrand factor multimer distribution

description: Deviation from the normal von Willebrand factor multimer pattern.


name: Partial fusion of proximal row of carpal bones


Duplicated clitoris

description: Supernumerary clitoris.


name: Abnormal urinary non-proteinogenic amino acid level

description: Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Compensatory scoliosis

description: A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.


name: Increased circulating prealbumin concentration

description: An elevation above the normal concentration of prealbumin in the blood circulation.


Thoracoabdominal wall defect

description: Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development.


Focal aware motor seizure with version

description: A focal motor seizure with version characterized by retained awareness throughout the seizure.


Necrotizing pulmonary granulomatosis

description: A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese.


Mesangial amyloid deposition

description: Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass.


name: Abnormal stool urobilinogen concentration

description: Abnormal concentration of urobilinogen present in the stool.


Bleeding requiring red cell transfusion

description: Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).


Abnormality of stem of antihelix

description: An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.


name: Sensory hyposensitivity unexplained by sensory deficit

description: Increased tolerance to sensory stimuli due to diminished sensory ability.


Abnormal axial muscle morphology

description: A structural anomaly of the muscles of the trunk and head.


name: Decreased proportion of CD4-positive helper T cells

description: A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.


name: Elevated circulating alpha-aminobutyric acid concentration

description: An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2.


Abnormality of masseter muscle

description: An abnormality of a masseter muscle.


Abnormal hip joint morphology

description: An abnormality of the hip joint.


Decreased fibular diameter

description: Reduced width of the cross sectional diameter of the fibula.


Skin nodule

description: Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.


name: Anti-chikungunya virus antibody positivity

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


Congenital absence of foreskin

description: Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.


name: Stippled calcification proximal humeral epiphyses


Ossifying fibroma of the jaw

description: A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.


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

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


name: Medullary peritubular capillary intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney.


name: Metaphyseal cupping of proximal phalanges

description: Metaphyseal cupping affecting the proximal phalanges.


spondylolisthesis

description: A condition in which there is forward displacement of a vertebral bone over the on below it.


Type I truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.


Peripheral axonal distension

description: An abnormal histological finding characterized by an increase in the cross-section area of peripheral nerve axons (up to 20-25 micrometers in diameter).


name: Elevated circulating branched chain amino acid concentration

description: Concentration of a branched chain amino acid in the blood above the upper limit of normal.


Multicentric femoral head ossification

description: There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.


name: Aplasia/Hypoplasia involving the vertebral column


Anticipatory anxiety

description: A state characterized by future-oriented worry, accompanied by negative affect and autonomic arousal.


name: Hypoplasia of maxilla relative to mandible

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


name: Partial absence of the septum pellucidum

description: Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.


Open comedo

description: A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.


Abnormal intrarenal vein morphology

description: Abnormal structure of a vein located inside the kidney parenchyma.


Metaphyseal sclerosis

description: Abnormally increased density of metaphyseal bone.


Meat allergen allergy

description: Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.


Quelprud nodule

description: Small cartilaginous prominence on the posterior concha.


name: Abnormal ossification involving the femoral head and neck


Brachyturricephaly

description: Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.


Large pelvis bone

description: The presence of an abnormally large pelvis.


name: Immediate-type hypersensitivity drug reaction

description: Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching, dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement.


Intestinal hypoplasia

description: Developmental hypoplasia of the intestine.


name: Abnormality of the distal humeral epiphysis

description: Any abnormality of the distal epiphysis of the humerus.


Abdominal aseptic abscess

description: An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently.


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


Tracheal atresia

description: A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.


facial spasm

description: Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.


pelvic organ prolapse

description: Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.


name: Abnormal preimplantation embryonic development

description: An anomaly in the development of the embryo in a stage prior to implantation.


name: Abnormal circulating interleukin 27 concentration

description: Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation.


EEG with temporal sharp slow waves

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


Decreased cardiac index

description: A reduced cardiac index, defined as cardiac output divided by body surface area.


name: Increased circulating interleukin 22 concentration

description: An abnormally increased concentration of interleukin 22 in the blood circulation.


Cervical C5/C6 vertebrae fusion

description: Fusion of the C5 and C6 cervical vertebrae.


Abnormality of the humeral epiphysis

description: An anomaly of the humeral epiphysis.


Nevus sebaceus

description: A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.


Absent muscle fiber calpain-3

description: Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.


name: Abnormal circulating carbohydrate concentration

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


name: Decreased O-mannosyl glycans on alpha-dystroglycan

description: Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix.


name: Multinucleated giant chondrocytes in epiphyseal cartilage

description: The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage.


Anti-enterocyte antibody positivity

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


name: Increased level of N-acetylneuraminic acid in urine

description: An increase in the level of N-acetylneuraminic acid in the urine.


Frontoparietal cortical dysplasia

description: The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.


Positive CSF VDRL test

description: An abnormal (positive) result of the Venereal Disease Research Laboratory (VDRL) test performed in cerebrospinal fluid (CSF), suggesting past or present neurosyphilis.


Renal arteriole intima/media necrosis

description: Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney.


Abnormal B cell count

description: A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.


name: Cone-shaped epiphysis of the distal phalanx of the thumb

description: A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb 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.


Skin fissure

description: A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.


name: Abnormal circulating nitrogen compound concentration

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


Abnormal energy expenditure

description: Any anomaly in the utilization of energy (calories).


Reduced urinary inosine level

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