Cerebral hyaline bodies

Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.


Abnormal CSF protein concentration

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

Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.


Abnormal germ cell morphology

Any structural anomaly of a reproductive cell.


Patchy palmoplantar hyperkeratosis

A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.


Abnormal circulating creatinine concentration

An abnormal concentration of creatinine in the blood.


Intracranial neurenteric cyst

A neurenteric cyst located within the skull.


Irregular epiphyses of the 2nd finger

Irregular radiographic opacity of the epiphyses of the 2nd finger.


Toe pain

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


Adrenal gland agenesis

Absent development of the adrenal gland.


Squared superior portion of helix

Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.


Nasal mucosa telangiectasia

Telangiectasia of the nasal mucosa.


Type V atherosclerotic lesion

Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.


Anti-alanyl-tRNA synthetase antibody positivity

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


triatrial heart

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

A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities.


Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.


cranial nerve palsy

Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.


Contracture of the distal interphalangeal joint of the 4th toe

The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.


EEG with continuous slow activity

EEG showing diffuse slowing without interruption.


Prominent digit pad

A soft tissue prominence of the ventral aspects of the fingertips or toe tips.


Abnormal pancreatic duct morphology

Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.


Abnormality of the epiphysis of the middle phalanx of the 5th finger

Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.


Trichoschisis

Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft.


Prominent proximal interphalangeal joints


Gastrostomy tube feeding in infancy

Feeding problem necessitating gastrostomy tube feeding.


Enlarged epiphyses of the phalanges of the hand

Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.


EEG with photoparoxysmal response grade II

Occurence of epileptiform discharges in occipital and central regions during photic stimulation.


Tubulointerstitial fibrosis

A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.


Acral blistering

Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).


Abnormal proportion of CD8-positive T cells

Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.


Partial right sided absence of pericardium

A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.


Abnormal limb epiphysis morphology

An anomaly of one or more epiphyses of a limb.


1-4 finger syndactyly

Syndactyly with fusion of fingers one to four.


Spinal epidural abscess

Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect of the abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina.


Aplasia of the distal phalanx of the hallux


Focal aware emotional seizure with agitation

Focal emotional seizure with agitation in which awareness is retained throughout.


Absent bronchoalveolar dimeric surfactant-protein B

Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.


Increased circulating isovaleric acid concentration

Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.


Clouston syndrome

Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.


Gallbladder wall thickening

Abnormal increased in the thickness of the wall of the gallbladder.


Sclerosis of the distal phalanx of the 3rd toe

An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Abnormal uterus morphology

Any anomaly of the structure of the uterus


Abnormal circulating albumin concentration

Deviation from normal concentration of albumin in the blood.


Splenogonadal fusion

Joining of the spleen and a gonad during embryological development.


Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia

A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.


Exstrophy

Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.


Fixation-off epileptiform discharges

Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG).


Ivory epiphyses of the 4th finger

Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Abnormal hypnopompia

Abnormal transition of consciousness from sleeping to wakefulness.


Partial duplication of the proximal phalanx of the 3rd toe

Partial duplication of proximal phalanx of third toe.


Anti-H4 antibody positivity

The presence of autoantibodies in the blood circulation that react against histone H4.


Fractured epiphysis of fifth metacarpal bone

A partial or complete breakage of the epiphysis of fifth metacarpal bone.


Abnormality of neuronal migration

An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.


Triangular shaped middle phalanx of the 3rd finger

Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Reduced total lung capacity

Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration.


Hypoglutaminemia

Decreased amount of glutamine in the blood.


Cone-shaped epiphysis of the middle phalanx of the 3rd toe


Humeral lytic defects

Destruction of an area of humerus bone due to a disease process, such as cancer.


Complete bilateral cleft lip

Bilateral cleft lip in which the cleft lip on both sides is complete, i.e. start from the bottom of the upper lip and reach the nasal cavity.


Cerebral ventricular adhesions

Bands of scar-like tissue that hve formed within a cerebral ventricle.


Spontaneous cerebrospinal fluid leak

A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak).


Aphalangy of the hands

Absence of a digit or of one or more phalanges of a finger.


Underfolded superior helices

A condition in which the superior portion of the helix is folded over to a lesser degree than normal.


Abnormal coccyx morphology

Any structural abnormality of the coccyx.


Increased CSF L-alloisoleucine concentration

An abnormally increased concentration of L-alloisoleucine in the cerebrospinal fluid (CSF).


Anti-MDA5 antibody positivity

The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5).


eosinophilic cryptitis

Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications.


Abnormal angiostatin level

A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.


Mild conductive hearing impairment

A mild form of conductive hearing impairment.


Abnormal HDL3a concentration

Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.


Platelet antibody positive

The presence in the serum of autoantibodies directed against thrombocytes.


Abnormal blood inorganic cation concentration

An abnormality of divalent inorganic cation homeostasis.


bilirubin encephalopathy

A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin.


Thick oral frenulum

Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.


Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells

An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


aorto-ventricular tunnel

Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.


Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal


Addictive video game use

The inability to regulate persistent gaming behavior is characterized by a heightened prioritization of gaming activities over regular daily tasks and responsibilities.


central nervous system cyst

A congenital or acquired cyst that is present in the central nervous system.


germinoma

A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes.


Anti-smooth muscle antibody positivity

The presence in serum of antibodies against smooth muscle.


Abnormal cardiomyocyte plakoglobin staining

Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.


Mirror image hand polydactyly

Mirror image duplication of digits affecting the hands only.


parietal encephalocele

An encephalocele located between bregma and lambda.


Fractured cuboid bone

A partial or complete breakage of the cuboid bone.


Complete diaphragmatic absence of pericardium

No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.


Cerebellar agenesis

Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.


Abnormal nephron morphology

A structural anomaly of the nephron.


seminoma

A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.


Pseudoepiphyses of the middle phalanges of the hand

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


Abnormal immunoglobulin level in body fluid

An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous.


Unilateral vocal cord paralysis

A loss of the ability to move the vocal fold on one side.


Cortical tubers

Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.


Dysharmonic maturation of the hand bones

Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.


Abnormal ST segment

An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.


Abnormal blood cation concentration

An abnormality of cation homeostasis.


Shoulder dislocation

A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.


Disseminated molluscum contagiosum

The presense of molluscum contagiosum lesions across multiple areas of the body.


Cognitive distortion

A cognitive distortion is a maladaptive, exaggerated, or irrational thought pattern.


Complete duplication of distal phalanx of the thumb

Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.


Pulmonary amyloidosis

Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.


Curved middle phalanx of the 3rd toe

A deviation from the normal straight form of the middle phalanx of the third toe.


Prominent ear helix

Abnormally prominent ear helix.


Monoclonal elevation of IgG

An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Upturned corners of mouth

Oral commissures positioned superior to the midline labial fissure.


Abnormal antihelix morphology

An abnormality of the antihelix.


Triangular epiphysis of the distal phalanx of the hallux


Hypnagogic sleep paralysis

Sleep paralysis that occurs when falling asleep.


Decreased serum leptin

A decreased concentration of leptin in the blood.


Lichenification

Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.


Delayed fine motor development

A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.


Osteolysis involving tarsal bones

An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.


Enlarged epiphyses of the 2nd finger

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


Renal arteriole intima/media liquefactive necrosis

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


Elevated circulating C5 acylcarnitine concentration

Concentration of C5 acylcarnitines in the blood circulation above the upper limit of normal. C5 acylcarnitines have a five-carbon acyl chain.


Anti-21-hydroxylase antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase.


Abnormal left ventricular ejection fraction

Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent.


Ineffective esophageal peristalsis

Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.


Abnormal talus morphology

An abnormality of the talus.


Abnormal blood sodium concentration

An abnormal concentration of sodium.


Moderate oligozoospermia

A type of oligozoospermia characterized by a total number of more than 10 but less than 29 million sperm in the ejaculate or a concentration of more than 5 but less than 10 million sperm per milliliter.


Focal sensory seizure with somatosensory features

A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.


Anti-Amphiphysin antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin.


Dysgenesis of the cerebellar vermis

Defective development of the vermis of cerebellum.


Stippling of the epiphyses of the 2nd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.


Constitutional symptom

A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.


Reduced euglobulin clot lysis time

Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.


Delayed recoil upon stretching of skin

Area of skin requiring an increased amount of time to return to its original shape after being stretched.


Contracture of the proximal interphalangeal joint of the 4th toe

The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively.


Lumbar hyperlordosis

An abnormal accentuation of the inward curvature of the spine in the lumbar region.


Fractured metatarsal bone of digit 1

A partial or complete breakage of the metatarsal bone of digit 1.


Decreased level of 1,5 anhydroglucitol in serum

A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues.


Abnormal PR interval

An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds.


hyperhidrosis palmaris ET plantaris

An abnormally increased perspiration on palms and soles.


verrucous nevus

A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings.


Ulnar radial head dislocation

A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.


Increased anti-egg IgE antibody level

Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.


Symmetric spinal nerve root neurofibromas

Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.


Morgagni-Stewart-Morel syndrome

Morgagni-Stewart-Morel syndrome is characterized by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.


Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.


Osteolytic defects of the middle phalanx of the 4th finger

Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger.


Pigment incontinence

A process in which melanosomes (melanin granules) are deposited in the dermis. The dermal melanosomes are observed to be mainly in macrophages. This phenomenon of pigmentary incontinence usually follows an inflammatory process with the basic feature of basal cell damage, such as in lichen planus, lupus erythematosus, Riehl's melanosis, incontinentia pigmenti (Bloch-Sulzberger), and fixed drug eruption. Incontinence of pigment, or dropping off of epidermal melanin into the dermis, frequently produces a clinically recognizable and characteristic slate-gray pigmentation.


Duplication of the proximal phalanx of hand

This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Periorbital hyperpigmentation

Increased pigmentation of the skin in the region surrounding the orbit of the eye.


Abnormal soft palate morphology

An abnormality of the soft palate.


Battle sign

Battle sign is bruising over the mastoid process that is typically the result of head trauma. It is retroauricular or mastoid ecchymosis that is typically the result of head trauma. Battle sign typically requires significant head trauma and may indicate significant internal injury to the brain and not just the posterior cranial vault or mastoid.


CSF lymphocytic pleiocytosis

An increased lymphocyte count in the cerebrospinal fluid.


Abnormal biliary tract physiology

A functional abnormality of the biliary tree.


Enlarged epiphysis of the middle phalanx of the 5th finger

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


Enlarged epiphysis of the proximal phalanx of the 2nd toe


Intra-oral hyperpigmentation

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


mitochondrial trifunctional protein deficiency

Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..


Transient decreased circulating IgG1

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


Neoplasm of the nail

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


geographic tongue

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


Fifth metacarpal with ulnar notch

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


angiolipoma

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


Aortic root aneurysm

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


hypophosphatemic rickets

Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.


Aggression towards others

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


Abnormal PR segment

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


Abnormal insulin like growth factor binding protein acid labile subunit level

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


Partial duplication of the phalanges of the 5th finger

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


Fetal chylothorax

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


Small epiphysis of the proximal phalanx of the 3rd toe


Orbital rhabdomyosarcoma

A mesenchymal tumor that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit.


ovarian fibroma

A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts.


Symmetric polyarthritis

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


Abnormal pineal volume

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


Subepithelial glomerular basement membrane electron dense deposits

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


Partial duplication of the middle phalanges of the hand

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


Umbilicated nodule

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


Jaw contracture

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


Howell-Jolly bodies

Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.


Abnormal urine metabolite level

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


Micronodular cirrhosis

A type of cirrhosis characterized by the presence of small regenerative nodules.


Abnormal labia majora morphology

An anomaly of the outer labia.


Testicular lipomatosis

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


Elevated urine N-acetylaspartic acid level

Amoutn of N-acetylaspartate high in the urine above upper limit of normal.


Abnormal platelet granules

An anomaly of alpha or dense granules or platelet lysosomes.


Increased anti-seafood IgE antibody level

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


Gastric xanthoma

Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids.


Elevated circulating palmitoylcarnitine concentration

Abnormally increased concentration of palmitoylcarnitine in the blood circulation.


Increased length of the tibia

An abnormal increase in the length of the tibia.


Hypoplasia of mandible relative to maxilla

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


Enlarged epiphyses of the distal phalanges of the hand


Aplasia of the parotid gland

Absence of the parotid gland.


Abnormality of the incisor

An abnormality of the Incisor tooth.


Abnormal heart rate variability

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


penoscrotal transposition

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


Osteolytic defects of the middle phalanx of the 4th toe


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


Focal aware cognitive seizure with left-right confusion

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


Abnormal renal echogenicity

Anomalous echogenicity of the kidney on ultrasound examination.


Abnormal thought pattern

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


Diffuse ribbon-like subcortical heterotopia

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


Furcate cord insertion

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


Delusions of infestation

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


Flexural lichenification

Lichenification affecting primarily flexural areas of the skin.


Dysplastic aortic valve

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


Multiple cutaneous leiomyomas

The presence of multiple leiomyomas of the skin.


Nonfunctional or atypical use of objects in play

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


Moderately short stature

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


Elevated urinary 3-hydroxykynurenine level

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


Isolation of the left subclavian artery

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


Abnormality of the musculature of the upper arm


Adrenocorticotropin receptor defect

Adrenal insufficiency secondary to a defect in the ACTH receptor.


Abnormal breast morphology

Any anomaly of the structure of the breast.


Atypical scarring of skin

Atypically scarred skin .


Lobulated tongue

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


Increased level of platelet-activating factor


Elevated circulating dihydroxyphenylacetic acid concentration

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


Lipedema

Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema.


EEG with spike-wave complexes

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


Radial deviation of thumb terminal phalanx


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


Lip cyanosis

Bluish discoloration of the lips.


myoglobinuria, recurrent

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


Irregular epiphysis of the distal phalanx of the 5th toe


Anti-Kelch like protein 11 antibody positivity

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


pelvic lipomatosis

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


Bullet-shaped distal phalanx of the 3rd finger

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


Localized area of pendulous skin

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


Absence of CD8-positive T cells

Lack of detectible CD8-positive T cells


Abnormal endocardium morphology

An abnormality of the endocardium.


Focal impaired awareness cognitive seizure with neglect

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


Short fetal femur length

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


Pectus excavatum of inferior sternum

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


Unilateral hypoplasia of pectoralis major muscle

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


Abnormal dense granule content

A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.


Abnormal capillary morphology

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


Elevated circulating tenascin-C level

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


Severe conductive hearing impairment

A severe form of conductive hearing impairment.


Abnormal cerebellar cortex morphology

Any structural anomaly of the cortex of the cerebellum.


Liver kidney microsome type 1 antibody positivity

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


conductive hearing loss disorder

Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea.


Cavitation of the basal ganglia

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


Testicular mesothelioma

A Malignant mesothelioma of the testis.


Intratubular hyaline casts

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


Abnormal blood zinc concentration

An abnormality of zinc ion homeostasis.


Abnormal circulating proteinogenic amino acid derivative concentration

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


Hyperthreoninuria

An increased concentration of threonine in the urine.


Cone-shaped epiphyses of the 3rd finger

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


Copper accumulation in brain

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


Abnormal macroscopic urine appearance

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


Fractured interphalangeal joint

A partial or complete breakage of the interphalangeal joint.


acral lentiginous melanoma

A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.


Unilateral conductive hearing impairment


Bullet-shaped proximal phalanx of the 2nd finger

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


Osseous finger syndactyly

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


Increased circulating troponin I concentration

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


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

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


Abnormality of the proximal phalanx of the 2nd finger


Short middle phalanx of the 3rd finger

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


Webbed neck

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


Descending aortic dissection

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


Hemangioma of the lip

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


Postauricular pit

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


Bone marrow erythroid vacuolization

Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow.


Intralamellar aortic medial fibrosis

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


dental enamel hypoplasia

Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.


Rudimentary postaxial polydactyly of hands


Partial duplication of the proximal phalanx of the 2nd toe

Partial duplication of proximal phalanx of second toe.


Abnormal proerythroblast morphology

Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.


Clinodactyly of the 3rd toe

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


Flexion contracture of the 2nd toe

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


Incomplete partition of the cochlea type II

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


Joint contracture

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


familial thoracic aortic aneurysm and aortic dissection

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


Decreased CSF 5-hydroxyindolacetic acid concentration

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


Thickened superior cerebellar peduncle

Increased width of the superior cerebellar peduncle.


Absent ethmoidal sinuses

Lack (aplasia) of the ethmoidal sinus.


Glomerular fibrin thrombus

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


Abnormality of the wrist

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


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

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


Abnormal vestibular saccule morphology

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


Low hanging columella

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


Sickled erythrocytes

An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).


Yellow skin plaque

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


Lymph node xanthomatosis

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


Hypotyrosinemia

An decreased concentration of tyrosine in the blood.


Short proximal phalanx of thumb

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


Diffuse cerebellar atrophy

Diffuse unlocalised atrophy affecting the cerebellum.


Abnormal middle ear morphology

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


Focal cortical dysplasia type III

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


EEG with spike-wave complexes (>3.5 Hz)

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


Congenital absence of portal vein

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


polydactyly of a triphalangeal thumb

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


Contracture of the proximal interphalangeal joint of the 2nd toe

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


Anti-hexokinase-1 antibody positivity

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


Focal aware verbal automatism seizure

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


Impaired renal tubular reabsorption of chloride

Any impairment of reabsorption of chloride by the kidney.


Fractured nose

A partial or complete breakage of the nose.


Hepatic polyglucosan accumulation

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


Abnormality of circulating fibrinogen

An abnormality of the level of activity of circulating fibrinogen.


Hip dislocation

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


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


Posterior predominant thick cortex pachygyria

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


Pleural cobblestoning

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


Fractured phalanx of manus

A partial or complete breakage of the phalanx of manus.


Increased T3/T4 ratio

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


Oral-pharyngeal dysphagia

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


Type II cryptotia

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


Periventricular pseudocyst

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


Bracket epiphysis of the distal phalanx of the 3rd finger

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


preeclampsia/eclampsia 1

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


Abnormal dentate nucleus morphology

An abnormality of the dentate nucleus.


Abnormal circulating aromatic amino acid concentration

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


Pulmonary artery dilatation

An abnormal widening of the diameter of the pulmonary artery.


Abnormal labia morphology

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


Impaired oxidative burst

In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.


EEG with multifocal slow activity

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


Duodenal arteriovenous malformation

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


Increased urine isobutyrylglycine concentration

Elevated concentration of isobutyrylglycine in the urine.


lentigo maligna melanoma

Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.


Complete duplication of the middle phalanx of the 5th finger

Complete duplication of the fifth middle phalanx of hand.


Interlobular vein intima/media liquefactive necrosis

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


Absent nasal septal cartilage

Lack of the cartilage of the nasal septum.


Abnormal mandibular symphysis morphology

A structural abnormality of a mandibular symphysis.


Linear atelectasis

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


Infantile spasms

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


EEG with photoparoxysmal response

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


Hepatic mastocytosis

Liver mast cell infiltration.


Crypt hyperplasia

Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodelling.


Bracket epiphysis of the distal phalanx of the hallux

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


Fractured navicular bone of pes

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


Protrusio acetabuli

Intrapelvic bulging of the medial acetabular wall.


Abnormal circulating thromboxane concentration

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


Esophageal mass

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


Abnormal intrahepatic bile duct morphology

An abnormality of the intrahepatic bile duct.


solitary median maxillary central incisor syndrome

A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.


Increased radioactive iodine uptake

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


paroxysmal dystonia

A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.


Anorexia

Anorexia, or the loss of appetite for food, is a medical condition.


secretory component deficiency

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


Abnormal morphology of phalanx of the 2nd toe

An anomaly of a phalanx of second toe.


Abnormal circulating pyruvate family amino acid concentration

An abnormality of a pyruvate family amino acid metabolic process.


Focal aware cognitive seizure with dissociation

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


Spinal cord calcifications

The presence of calcium deposition in the spinal cord.


Unilateral ulnar hypoplasia

Underdevelopment of the ulna on only one side.


Accelerated atherosclerosis

Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.


In situ pulmonary artery thrombosis

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


Central Y-shaped metacarpal

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


Frontal polymicrogyria

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


Extrahepatic bile duct fibrosis

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


Painful subcutaneous lipomas

The presence of multiple subcutaneous lipoma that cause pain.


Abnormal vascular physiology

Abnormality of vascular function.


Abnormal toe morphology

An anomaly of a toe.


Focal impaired awareness cognitive seizure with dyscalculia/acalculia

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


Abnormal circulating organic amino compound concentration

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


Fused cervical vertebrae

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


head and neck paraganglioma

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


Irregular epiphysis of the proximal phalanx of the hallux


Abnormality of the vertebral column

Any abnormality of the vertebral column.


Arcuate artery intima/media granulomatous arteriitis

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


Regional right ventricular hypokinesis

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


Glomerular obsolescence

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


Small epiphyses of the 5th finger

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


Impairment of activities of daily living

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


Absence of alpha granules

A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears.


Abnormal respiratory motile cilium physiology

Any functional anomaly of the respiratory motile cilia.


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


Apical hypertrophic cardiomyopathy

Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.


Abnormal metatarsal epiphysis morphology

Any abnormality of a metatarsal bone epiphysis.


Posterior mediastinal mass

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


Aplasia of the vestibule

Complete absence of the vestibule of the inner ear.


Frontal release signs

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


Bracket epiphysis of the distal phalanx of the 2nd finger

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


Chess-pawn distal phalanges

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


Arachnoid granulation

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


Interlobular vein intima/media granulomatous venulitis

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


Anti-ARHGAP26 antibody

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


Dural ectasia

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


Long clavicles

Increased length of the clavicles.


Intracranial epidermoid cyst

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


Chronic oral candidiasis

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


Insufficient response to short acting pulmonary vasodilator

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


Recurrent skin infections

Infections of the skin that happen multiple times.


EEG with central sharp waves

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


Aplasia/Hypoplasia of the phalanges of the thumb


Flared humeral metaphysis

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


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


congenital total pulmonary venous return anomaly

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


Focal autonomic seizure with urge to urinate/defecate

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


Anti-glycyl tRNA-synthetase antibody positivity

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


Progressive cervical vertebral spine fusion


Abnormality of the distal phalanx of the 4th finger


Decreased circulating epinephrine concentration

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


dyschromatosis universalis hereditaria

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


Cortical radial artery neutrophil hypercellularity

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


Abnormal bladder morphology

Any structural anomaly of the bladder.


Preauricular skin tag

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


Abnormality of superior crus of antihelix

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


anodontia

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


EEG with occipital sharp slow waves

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


Diastomatomyelia

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


Feather allergy

Hypersensitivity in form of an adverse immune reaction against feathers.


Abnormality of the epiphysis of the 2nd metacarpal

Any abnormality of the epiphysis of the second metacarpal bone.


Severe lactic acidosis

A severe form of lactic acidemia.


Acral ulceration

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


Laryngeal hemangioma

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


periventricular nodular heterotopia

Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.


Nonprogressive muscular atrophy

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


Low posterior hairline

Hair on the neck extends more inferiorly than usual.


Whole-immunoglobulin paraproteinemia

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


Primary Caesarian section

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


Abnormal macrophage morphology

An abnormality of macrophages.


Reduced sympathetic expression

A reduction in showing sympathy to others, such as providing comfort when someone is sad or crying.


Increased HDL2b concentration

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


Abnormal pectoral muscle morphology

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


Triangular shaped proximal phalanx of the hallux


hyperglycinuria

An increased concentration of glycine in the urine.


Cerebral germinoma

The presence of a germ cell tumor of the cerebrum.


Bullet-shaped phalanges of the 3rd finger

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


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

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


pretibial dystrophic epidermolysis bullosa

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


Obstipation

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


Abnormal ankle physiology

A functional anomaly of the ankle.


Abnormality of the second metatarsal bone


Head-banging

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


Umbilical cord hematoma

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


Abnormality of the hairline

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


Abnormality of the breast

An abnormality of the breast.


Short 3rd finger

Hypoplastic/small 3rd (middle) finger.


phosphohydroxylysinuria

An elevated concentration of phosphohydroxylysine in the urine.


Abnormal uvula morphology

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


Sloping ulnar metaphysis

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


Bicoronal synostosis

Synostosis affecting the right and the left coronal suture.


Bilateral renal atrophy

A two-sided form of atrophy of the kidney.


respiratory tract neoplasm

A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.


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

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


Curved middle toe phalanx

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


Separate origin of the left anterior descending and left circumflex artery

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


Foam cells

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


Recurrent upper respiratory tract infections

An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).


Dacryocytosis

Presence of teardrop-shaped red blood cells.


Abnormal ureter physiology

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


Abasia

A severe form of gait ataxia such that an affected person cannot walk at all.


Low-frequency hearing loss

A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).


Tracheal hemorrhage

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


Obsessive-compulsive trait

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


Mucin casts

A type of airway casts that consist of impacted mucus.


Delayed pubic bone ossification

Delayed maturation and calcification of the pubic bone.


Abnormal circulating hepcidin concentration

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


Irregular epiphyses of the 3rd finger

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


Focal impaired awareness motor seizure with negative myoclonus

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


Caudal appendage

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


Increased circulating free T4 concentration

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


Enlarged metacarpal epiphyses

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


Abnormal blood monovalent inorganic cation concentration

An abnormality of monovalent inorganic cation homeostasis.


Bouchard's node

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


Stereotypical hand wringing

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


Abnormal VLDL cholesterol concentration

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


Elevated circulating 2-hydroxybutyric acid concentration

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


cryofibrinogenemia

Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin.


Angular cheilitis

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


Broad nasal tip

Increase in width of the nasal tip.


Prominent antitragus

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


Leydig cell insensitivity to gonadotropin


Delayed humeral epiphyseal ossification

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


Decreased serum insulin-like growth factor 1

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


Neutrophilic urticarial dermatosis

A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.


Spina bifida occulta at S1

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


Decreased amyloid beta 42 peptide CSF concentration

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


Abnormal synovial membrane morphology

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


Infection due to encapsulated bacteria

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


Abnormal earlobe morphology

An abnormality of the lobule of pinna.


Anti-tyrosyl-tRNA synthetase antibody positivity

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


Involuntary movements

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


Ambiguous genitalia, female

Ambiguous genitalia in an individual with XX genetic gender.


Smoker-inclusions in alveolar macrophages

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


palatal neoplasm

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


Abnormal humerus morphology

Any anomaly of the structure of the humerus.


Livedo racemosa

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


Arcuate artery intima/media arteriitis

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


Recurrent upper and lower respiratory tract infections

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


hyper-beta-alaninemia

Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.


Paroxysmal vertigo

Paroxysmal episodes of vertigo.


Renal tubular cytomegalovirus inclusions

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


Diaphragmatic paralysis

The presence of a paralyzed diaphragm.


Anomalous origin of one pulmonary artery from ascending aorta

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


Pigmentation anomalies of sun-exposed skin


prolactin deficiency, isolated

Subnormal concentration of prolactin.


Abnormal superior vena cava morphology

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


Bronchial artery dilatation

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


Enlarged epiphysis of the distal phalanx of the thumb

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


Patchy sclerosis of the distal phalanx of the thumb

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


Opposable triphalangeal thumb

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


Functional abnormality of the gastrointestinal tract

Abnormal functionality of the gastrointestinal tract.


Bilateral facial palsy

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


Abnormality of the musculoskeletal system

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


Increased proportion of CD25+ mast cells

An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).


Excessive interest in others

An unusually strong interest in others in general or tendency to develop a strong interest in certain individuals.


Abnormal platelet function

Any anomaly in the function of thrombocytes.


Increased circulating creatine kinase BB isoform

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


Abnormal circulating vitamin B6 concentration

An abnormal concentration of vitamin B6 in the blood circulation.


Anti-phenylalanyl tRNA synthetase antibody positivity

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


Abnormal esophagus physiology

Any physiological abnormality of the esophagus.


Poor conversational reciprocity

Reduced ability to conduct a reciprocal (back and forth) conversation, as expected for language level. May be characterized by deficits in the ability to make comments about discussion topics of others, failure to ask questions, and not building a conversation on comments of others. Affected persons may not know what to say next in a conversation, may not notice if others are bored with a given topic, may conduct a one-sided conversation (talking but not listening), or may veer off topic more than is socially acceptable.


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


Abnormal corticospinal tract morphology

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


EEG with central focal spikes

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


Arcuate vein medial/intimal liquefactive necrosis

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


Abnormality of the trapezium

An anomaly of trapezium.


Focal motor seizure with dystonia

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


Mucus plug

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


Aplasia/Hypoplasia of the sweat glands

Absence or developmental hypoplasia of the sweat glands.


Absent epiphysis of the proximal phalanx of the 2nd toe


Patchy hypopigmentation of hair

Reduced pigmentation of hair in patches.


Generalized weakness of limb muscles

Generalized weakness of the muscles of the arms and legs.


Aortic arch calcification

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


Decreased post-bronchodilator forced expiratory volume in one second

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


Glomerular subendothelial widening

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


astrocytoma (excluding glioblastoma)

A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.


Aplasia of the distal phalanx of the thumb

Absence of the distal/terminal phalanx of the thumb.


Increased serum leptin

An increased concentration of leptin in the blood.


Anti-islet antigen-2 antibody positivity

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


cafe au lait spots, multiple

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


Giant neutrophil granules

The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.


Orange discolored tonsils

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


Abnormal cardiac exercise stress test

Abnormal results of exercise on heart function.


Tympanic membrane hypermobility

Abnormally increased ability to move of the tympanic membrane.


Metacarpal diaphyseal endosteal sclerosis

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


Triangular shaped distal phalanges of the toes


Congenital palmoplantar hyperkeratosis

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


Perivascular dermis hyaline deposition

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


Linear C3 deposits along the epidermal basement membrane zone

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


Abnormal circulating osteocalcin level

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


Aplasia/Hypoplasia of the gallbladder

Absence or underdevelopment of the gallbladder.


Portosystemic collateral veins

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


Recurrent sinopulmonary infections

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


Short proximal phalanx of finger

Congenital hypoplasia of one or more proximal phalanx of finger.


Sclerosis of the proximal phalanx of the 3rd finger


Abnormal circulating citrulline concentration

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


Unusual infection

A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.


Decreased circulating hepcidin concentration

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


Pseudoepiphyses of the metacarpals

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


nasal bones, absence of

Absence of the nasal bone.


Interstitial cardiac fibrosis

A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.


short stature due to primary acid-labile subunit deficiency

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


Abnormal circulating proteinogenic amino acid concentration

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


Membranous subvalvular aortic stenosis

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


Cerebellar glioma

A glioma affecting the cerebellum.


Spinal dysraphism

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


Abnormal facial skeleton morphology

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


2-3 finger syndactyly

Syndactyly with fusion of fingers two and three.


Abnormal substantia nigra morphology

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


Decreased specific antibody response to protein vaccine

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


Cardiac fibroma

A fibroma of the heart.


Hypoplastic posterior communicating artery

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


Abnormality of cranial sutures

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


Stippling of the epiphyses of the hallux

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


Cervical agenesis

Congenital absence of the cervix.


Sterile pyuria

Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.


Bacterial encephalitis

Encephalitis caused by bacterial infection.


Tapered finger

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


Focal cortical dysplasia type IIIc

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


Irregular epiphyses of the proximal phalanges of the hand


Calcium nephrolithiasis

The presence of calcium-containing calculi (stones) in the kidneys.


Shoulder extension contracture

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


Myoclonic absence status epilepticus

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


Fine hair

Hair that is fine or thin to the touch.


Abnormality of the epiphyses of the middle phalanges of the hand


Small epiphysis of the proximal phalanx of the 5th finger

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


Premature fusion of phalangeal epiphyses

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


Short femoral neck

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


Aggression toward non-caregivers

Aggression that is directed towards non-caregivers.


Distended jugular lymphatic sacs

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


Hyperpigmented papule

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


Sweet craving

Excessive desire to eat sweet foods.


Impaired platelet adhesion

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


T-cell lymphoma/leukemia

A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.


Shortening of all metacarpals

Abnormal reduction in length of all metacarpal bones.


Hepatic amyloidosis

A form of amyloidosis that affects the liver.


Abnormal sex hormone-binding globulin level

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


High-grade vesicoureteral reflux

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


Enuresis diurna

Enuresis occurring during waking hours of the day.


Rhizomelic leg shortening

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


Jaw hyporeflexia

Reduced intensity of muscle tendon reflexes in jaw.


Mixed demyelinating and axonal polyneuropathy


Abnormal columella morphology

A structural abnormality of the columella.


Abnormality of the integument

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