Type III atherosclerotic lesion

Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.


Sclerotic radial metaphysis with longitudinal striations

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Adrenocorticotropin deficient adrenal insufficiency

Adrenal insufficiency secondary to a defect in ACTH production.


Focal emotional seizure with fear/anxiety/panic

Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.


Flexion contracture of the hallux

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


Non-convulsive status epilepticus with coma

A type of status epilepticus without prominent motor symptoms and in the presence of coma.


Abnormal brainstem white matter morphology

An anomaly of the white matter of brainstem.


Decreased CSF isoleucine concentration

Abnormally decreased levels of isoleucine in cerebrospinal fluid.


Impaired growth-hormone response to insulin stimulation test

Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).


Patchy sclerosis of the distal phalanx of the 3rd toe


Diminished motivation

A reduction in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.


Obtuse angle of mandible

Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.


Abnormality of the submandibular glands

Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.


Thickening of the tubular basement membrane

Increase in thickness of the basement membrane of the tubulus of the kidney.


Patella alta

Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea.


vulval varices

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A varicose disease that involves the mammalian vulva.


Increased circulating globulin level

An abnormally elevated concentration of globulins in the blood.


Postural hypotension with compensatory tachycardia


Sclerosis of the distal phalanx of the 3rd finger


Parietal foramina

The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.


Abnormal pulmonary alveolar system development


Criss-cross atrioventricular valves

Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.


Increased number of elastic fibers in the dermis

An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.


Infection following live vaccination

An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens.


Marked delay in eruption of permanent teeth


Increased anti-fungi IgE antibody level

Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.


Pseudoepiphysis of the distal phalanx of the hallux


Abnormal finger flexion crease

Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger).


Malignant neoplasm of the central nervous system

A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.


Absent middle phalanx of 2nd finger

Absence of the middle phalanx of the index (2nd) finger.


Hemiareflexia

Areflexia that is limited to one side of the body.


Cervicomedullary schisis

Fissure within the spinal cord of the neck.


Midline hand movements

Hand stereotypies within the medial plane of the body.


Abnormal myeloid cell morphology

Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.


Maceration

A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.


leiomyoma cutis

A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


Peripheral amyelination

Congenital absence of the myelin sheath on a nerve.


Enlarged epiphysis of the distal phalanx of the 5th finger

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


Multiple digital exostoses

Multiple exostoses originating in the fingers and toes.


Aplasia of the distal phalanx of the 2nd finger


Hyaline membranes

Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult.


Abnormal left atrium morphology

Any structural abnormality of the left atrium.


Lingual thyroid

An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.


Foot joint contracture

Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.


Absent neutrophil lactoferrin

The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.


Irregular epiphysis of the middle phalanx of the 3rd toe


Renal tubular epithelial cell swelling

Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen.


Focal hemifacial clonic seizure

Focal seizure characterized at onset by clonic movements affecting half of the face.


Enlarged epiphysis of the middle phalanx of the 2nd toe


Persistence of primary teeth

Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.


White forelock

A triangular depigmented region of white hairs located in the anterior midline of the scalp.


histidinemia

Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.


Frontoethmoidal meningocele

A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.


Pseudoepiphysis of the 2nd finger

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


Pigment gallstones

Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.


Choanal stenosis

Abnormal narrowing of the choana (the posterior nasal aperture).


follicular infundibulum tumor

A tumor involving the follicular infundibulum.


Medial arterial calcification

Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.


Aplasia/Hypoplasia of the inner ear

Aplasia or developmental hypoplasia of the inner ear.


Delayed upper limb epiphyseal ossification

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


Decreased testicular size

Reduced volume of the testicle (the male gonad).


Fatigable weakness of skeletal muscles

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


Stiff skin

An induration (hardening) of the skin


Abnormal hair pattern

An abnormality of the distribution of hair growth.


Reduced fetal femur/foot length ratio

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


CNS foam cells

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


Pulmonary bulla

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


Premature epimetaphyseal fusion in radius

Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.


Elevated CSF chitotriosidase 1 concentration

Increased concentration of chitotriosidase 1 in cerebrospinal fluid.


Elevated bronchoalveolar lavage fluid neutrophil proportion

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


Reduced proportion of CD4+ effector memory T cells

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


Complete duplication of the distal phalanx of the 4th toe

Complete duplication of the distal phalanx of fourth toe.


Thalamic arteriovenous malformation

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


Splayed fingers

Divergence of digits along the A/P axis (in the plane of the palm).


Triangular epiphysis of the distal phalanx of the 5th toe


Interhypothalamic adhesion

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


Abnormal serum estriol

A deviation from normal concentration of estriol in the circulation.


Unilateral multifocal epileptiform discharges

Epileptiform discharges being identified at multiple locations in one hemisphere.


Enlarged labia minora

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


Umbilical cord knot

An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord.


Bullet-shaped distal phalanx of the 3rd toe

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


Cutaneous atresia of the external auditory canal


Abnormal cranial nerve morphology

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


Blistering by histological location

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


aceruloplasminemia

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


Abnormality of vitamin K metabolism

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


Elevated CSF dopamine concentration

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


Sulfocysteinuria

A increased concentration of sulfocysteine in the urine.


Duplication of the distal phalanx of the 3rd toe

Partial or complete duplication of distal phalanx of third toe.


Recurrent bacterial meningitis

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


Age of death

The age group when the cessation of life happens.


Bullet-shaped proximal 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 proximal phalanx of the 3rd finger is affected.


Hypomature enamel

Enamel with a white or brown discoloration without hypoplasia.


Femoral bowing

Bowing (abnormal curvature) of the femur.


Focal impaired awareness autonomic seizure with pupillary dilation/constriction

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


Connective tissue nevi

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


Cortical radial artery lumen cholesterol emboli

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


Thigh hypertrophy

Muscle hypertrophy affecting the thighs.


Abnormal arcuate artery endothelium morphology

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


Excessive dynamic airway collapse

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


Decreased platelet glycoprotein Ib-IX-V

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


Abnormal dermis morphology

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


Complete duplication of the distal phalanx of the hallux


Abnormality of the cochlear nerve

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


Abnormal olecranon morphology

Any structural abnormality of the olecranon, a bony eminence of the proximal ulna.


Elevated myocardial native T2

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


Impaired renal tubular reabsorption of phosphate

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


Pseudoepiphysis of the middle phalanx of the 4th finger

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


Curved proximal phalanx of the 5th toe

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


Bifid tongue

Tongue with a median apical indentation or fork.


Neonatal short-trunk short stature

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.


Increased density of long bones

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


Malrotation of small bowel

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


Pterygium of nails

Inward advance of skin over the nail plate.


Male anorgasmia

Inability of a male to reach orgasm.


glutaric aciduria

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


Anti-annexin-V antibody positivity

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


Cochlear malformation

The presence of a malformed cochlea.


Abnormality of the tympanic membrane

An abnormality of the tympanic membrane


oral hairy leukoplakia

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


Tarsal stippling

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


Osteoarthritis of the small joints of the hand


Reduced erythrocyte porphobilinogen deaminase activity

Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal.


Congenital defect of the pericardium

A developmental defect of the pericardium with congenital onset.


Infantile axial hypotonia

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


Abnormal platysma muscle morphology

An abnormality of the platysma muscle.


Convulsive status epilepticus

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


Ectopic ossification in ligament tissue

Formation of abnormal bony tissue within ligament tissue.


progressive bulbar palsy

Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.


Impaired T cell function

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


Increased level of propylene glycol in blood

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


Hypoplasia of the cochlea

Developmental hypoplasia of the cochlea.


Carotid artery calcification

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


Receptive aphasia

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


Symphalangism affecting the phalanges of the 5th toe


Increased mean corpuscular hemoglobin concentration

An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).


Neonatal electro-clinical seizure

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


Macronodular cirrhosis

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


EMG: myokymic discharges

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


Scapular exostoses

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


Post-transfusion thrombocytopenia

Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.


Abnormal brainstem morphology

An anomaly of the brainstem.


Abnormal natural killer subset distribution

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


Chronic partially decreased circulating IgG3

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


Angioma serpentinum

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


Renal intratubular casts

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


Camptodactyly of finger

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


Focal impaired awareness motor seizure with paresis/paralysis

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


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


Trident hand

A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.


Multiple central nervous system lipomas

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


Lack of bowel sounds

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


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

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


Paroxysmal ventricular tachycardia

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


Decreased T3/T4 ratio

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


Chylopericardium

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


Alpha-gal allergy

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


Abnormal medullary pyramid morphology

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


Ivory epiphysis of the thumb

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


Finger dactylitis

Fingers appear swollen and plump owing to inflammation of the complete finger.


Elevated urinary delta-aminolevulinic acid

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


Pulmonary bleb

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


Focal cortical dysplasia type IIa

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


Elevated circulating S-adenosyl-L-methionine concentration

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


saccharopinuria

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


Absence of the third cerebral ventricle

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


Abnormal temporal lobe morphology

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


Flexion limitation of toes

Limitation of the ability to bend the toes.


Abnormal rib morphology

An anomaly of the rib.


Bicuspid aortic valve with left-noncoronary cusp fusion

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


Increased level of allantoin in serum

An increase in the level of allantoin in the serum.


Lateral clavicle hook

An excessive upward convexity of the lateral clavicle.


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

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


Hyposegmentation of neutrophil nuclei in CSF

Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.


femoral agenesis/hypoplasia

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


Focal aware epileptic spasm

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


Abnormal 5th finger phalanx morphology

Abnormality of the phalanges of the 5th (little) finger.


Hand polydactyly

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


Ectopic ossification in tendon tissue

Formation of abnormal bony tissue within tendon tissue.


Eyelid myokymia

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


Reduced social reciprocity

A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person.


Impaired calcium ionophore-induced platelet aggregation

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


Abnormal circulating porphyrin concentration

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


Short middle phalanx of finger

Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.


Microcolon

A colon of abnormally small caliber.


Cortical radial artery hypercellularity

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


Midsystolic murmur

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


Hypoplastic iliac body

Underdevelopment of the body of ilium.


Bifid xiphoid process

A cleft of the xiphoid process of the sternum.


Dens in dente

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


Reduced collaborative imaginative play

Failure of a child to integrate with peers in imaginative play.


Reduced circulating acetylcarnitine concentration

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


Thin upper lip vermilion

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


Osteolytic defects of the 1st metacarpal

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


Flexion contracture of finger

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


macrodactyly of toes

A type of Macrodactyly affecting one or several toes.


Bullet-shaped hallux phalanx

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


Acute cutaneous wound

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


Triangular epiphysis of the distal phalanx of the 3rd toe


Hypoplastic iliac wing

Underdevelopment of the ilium ala.


Unconjugated hyperbilirubinemia

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


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


Transthyretin cardiac amyloidosis

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


Pes valgus

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


Renal medullary pyramid hypoplasia

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


fourth cranial nerve palsy

A cranial nerve palsy that involves the trochlear nerve.


Triangular shaped middle phalanges of the toes


Ureter fissus

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


Tyrosinuria

An abnormally increased level of tyrosine in the urine.


Intratubular myoglobin cast

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


Abnormal brainstem MRI signal intensity

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


Nephroptosis

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


Increased proportion of marginal zone B cells

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


Elevated CSF biopterin level

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


Short middle phalanx of the 3rd toe

Developmental hypoplasia of the middle phalanx of third toe.


Triangular epiphysis of the middle phalanx of the 4th toe


Midnasal atresia

Absence or abnormal closure of the midnasal cavity.


Complete unilateral cleft lip

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


Increased male libido

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


Abnormality of the ureter

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


Cavitating pulmonary mass

Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm.


Limb dysmetria

A type of dysmetria involving the limbs.


Pontocerebellar atrophy

Atrophy affecting the pons and the cerebellum.


Incomplete breech presentation

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


Trident acetabulum

Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident.


Corticotropin-releasing hormone receptor defect

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


osteoid osteoma

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


pica disease

An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development.


Edema of the upper limbs

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


Increased anti-feather IgE antibody level

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


Single interphalangeal crease of fifth finger

Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.


Hyporeflexia

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


Narrow jaw

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


Abnormality of the humeroulnar joint

An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.


Pulp obliteration

Mineralized substance filling the entire dental pulp space.


A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.


Aplasia/Hypoplasia of the proximal phalanges of the hand


Aplasia of the distal phalanges of the hand


Cholesterol gallstones

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


humeroradial synostosis

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


Osteolytic defects of the proximal phalanx of the 4th toe


Symphalangism affecting the middle phalanx of the 5th toe


Broad femoral head

Increased width of the femoral head.


Erythrocyte inclusion bodies

Nuclear or cytoplasmic aggregates of substances in red blood cells.


Focal myoclonic seizure

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


Increased level of D-threitol in CSF

An increase in the level of D-threitol in the cerebrospinal fluid.


Hyperisoleucinemia

An increased concentration of isoleucine in the blood.


Glomerular hyalinosis at the tubular pole

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


Decreased patellar reflex

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


Increased DLCO

Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.


Tibialis anterior muscle atrophy

Wasting of the tibialis anterior muscle.


Elevated circulating DOPA concentration

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


Abnormal gallbladder physiology

A functional anomaly of the gallbladder.


Long upper lip

Increased width of the upper lip.


Pseudoepiphysis of the distal phalanx of the 5th finger

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


Anti-TRIM46 antibody

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


Increased CSF aspartate concentration

Abnormally increased levels of aspartic acid in cerebrospinal fluid.


Upslanting toenail

Upturned concavity of toenails.


Poorly formed metencephalon

A morphological abnormality of the metencephalon.


Aplasia of the distal phalanx of the 4th finger

Absence of the distal phalanx of the ring (4th) finger.


Pericardial late gadolinium enhancement

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


Fragmentation of the epiphysis of the middle phalanx of the 2nd finger


Absent fingernail

Absence of a fingernail.


EEG with photoparoxysmal response grade IV

Occurrence of generalized epileptiform discharges during photic stimulation.


Carotid artery tortuosity

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


Triangular tongue

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


Increased anti-dust mite IgE antibody level

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


Non-convulsive status epilepticus without coma

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


Anti-bactericidal/permeability-increasing protein antibody positivity

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


Abnormal circulating aspartic acid concentration

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


Increased serum sorbitol concentration

An increased level of sorbitol in the blood circulation.


Cortical nephrocalcinosis

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


Renal tubular epithelial cell hemosiderin

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


Hepatic xanthomatosis

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


Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.


Generalized cerebral atrophy/hypoplasia

Generalized atrophy or hypoplasia of the cerebrum.


Hypoketotic hypoglycemia

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


Carpometacarpal thumb joint contracture

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


Anomalous origin of coronary artery from the pulmonary artery

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


Short digit

One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.


Impaired memory B cell generation

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


Renal interstitial necrotizing granulomas

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


Female sexual dysfunction

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


Symphalangism of the 5th finger

Fusion of two or more bones of the 5th finger.


Decreased KCO

Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).


Frog-leg posture

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


Moyamoya phenomenon

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


Fetal choroid plexus cysts

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


Iron accumulation in substantia nigra

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


Bracket epiphysis of the distal phalanx of the 4th finger

An abnormality of the distal phalanx of the fourth 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.


Anti-LGI1 antibody

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


Glomerular hyalinosis away from the vascular and tubular poles

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


Abnormality of the distal fibular epiphysis

Any abnormality of the distal epiphysis of the fibula.


Osteolytic defects of the proximal phalanx of the 3rd finger

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


Stippling of the epiphyses of the middle phalanges of the hand


Synostosis of second metacarpal-trapezoid

Fusion of the second metacarpal-trapezoid.


Absent ankle pulse

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


Snowball lesion of corpus callosum

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


Abnormality of the parathyroid physiology

A functional abnormality of the parathyroid gland.


Fractured manual digit

A partial or complete breakage of the manual digit.


Cardiovascular calcification

Abnormal calcification in the cardiovascular system.


Bracket epiphysis of the middle phalanx of the 4th finger

An abnormality of the middle phalanx of the fourth 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.


Short iliac bones

Underdevelopment of the iliac bones.


Abnormal tricuspid chordae tendinae morphology

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


trachea neoplasm

A neoplasm (disease) that involves the trachea.


Abnormal urine pH

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


Large elbow

Abnormal increased size of the elbow joint.


Post-angioplasty coronary artery restenosis


Avulsion fractured epiphysis of femur

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


Unicameral bone cyst

A benign fluid filled simple cyst of bone filled with serous fluid.


Complete duplication of the proximal phalanx of the 5th toe

Complete duplication of the proximal phalanx of fifth toe.


Midnasal stenosis

Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.


Bidirectional shunt

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


Glomerular hyalinosis

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


Abnormal femoral metaphysis morphology

An anomaly of the femoral metaphysis.


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


Circumferential skin creases on extremities

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


Focal impaired awareness emotional seizure with laughing

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


Aplasia/Hypoplasia of the distal phalanges of the hand

Absence or underdevelopment of the distal phalanges.


Fetal ascites

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


congenital laryngeal web

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


Bracket epiphysis of the middle phalanx of the 2nd toe


Bacteria allergy

Hypersensitivity in form of an adverse immune reaction against bacteria.


thyroid hormone resistance syndrome

An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.


Abnormality of endocrine pancreas physiology

A function abnormality of the endocrine pancreas.


osteoblastoma

A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent.


Atrioventricular reentrant tachycardia

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


Focal aware behavior arrest seizure

A focal behavior arrest seizure characterised by retained awareness throughout the seizure.


Anti-GT1a IgM antibody positivity

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


Cone-shaped epiphyses of the proximal phalanges of the hand


Increased uridine diphosphate glucose-4-epimerase level in plasma

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


Arcuate vein intimal/medial storage material accumulation

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


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

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


Recurrent maladaptive behavior

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


Episodic hypersomnia

Recurrent episodes of severe hypersomnia are accompanied by cognitive and behavioral disturbances, including confusion, derealization, apathy, compulsive eating, and hypersexuality.


Fatigable weakness of bulbar muscles

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


Anti-phosphatidyl glycerol antibody positivity

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


Tubulonodular pericallosal lipoma

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


Incomplete partition of the cochlea

Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.


Abnormal premolar morphology

An abnormality of morphology of premolar tooth.


Abnormal lower-limb metaphysis morphology


Symphalangism affecting the middle phalanx of the 2nd toe


Glomerular endothelial tubuloreticular inclusion

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


Elevated circulating catecholamine level

An abnormal increase in catecholamine concentration in the blood.


Increased urinary 11-deoxycorticosterone level

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


Ornithinuria

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


Anti-GQ1b IgG antibody positivity

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


Medullary nephrocalcinosis

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


polydactyly of a biphalangeal thumb

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


distal symphalangism

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


Reversible airflow obstruction

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


Decreased growth hormone responses to growth hormone-releasing hormone challenge

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


cutaneous melanoma

A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.


Increased QRS voltage

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


Secretory adrenocortical adenoma

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


Absent abdominal reflex

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


Focal tonic seizure

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


multiple mucosal neuroma

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


Generalized arterial calcification

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


3-4 metacarpal synostosis

A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers).


Focal aware autonomic seizure

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


Drumstick terminal phalanges

Rounding and broadening of the tufts of the distal phalanges.


Ivory epiphyses of the 2nd toe

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


Non-restrictive ventricular septal defect

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


Enlarged amygdala

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


Ivory epiphysis of the distal phalanx of the thumb

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


Transitional-cell carcinoma of the ureter

A cancer of the ureter that most often arises in the distal third of the ureter and is often diagnosed during the sixth and seventh decades of life. The most common presentation is gross hematuria or flank pain.


Mass on thoracic imaging

A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features.


Monoclonal elevation of circulating IgE

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


Abnormality of the palmar creases

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


46,XY disorder of sex development

Differences of sex development in individuals with 46,XY karyotype.


Proximal muscle weakness in lower limbs

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


pulmonary valve agenesis

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


Abnormality of the proximal phalanx of the 4th finger


White oral mucosal macule

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


Abnormal speech rate

Speech that is abnormally fast or slow


Hepatic granulomatosis

The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


Anti-endothelin-1 type A receptor antibody positivity

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


Abnormality of the ankle

An anomaly of the joint that connects the foot with the leg.


inherited threoninemia

An increased concentration of threonine in the blood.


Curved toe phalanx

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


Intralamellar mucoid extracellular matrix accumulation

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


thoracic aortic aneurysm

An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.


Circulating nucleated red blood cells

The presence of nucleated red blood cells in the peripheral blood circulation.


Auditory sensory seeking

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


Neonatal focal myoclonic seizure

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


Sensorimotor polyneuropathy affecting arms more than legs


Motor tics

Movement-based tics affecting discrete muscle groups.


Hypoxemia in cord blood

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


Abnormal metencephalon morphology

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


Disproportionate shortening of the tibia


Flat nasal alae

An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).


EEG with generalized slow activity grade 1

Slowing at frequencies between 7.5 and 8.5 Hz.


Undulate clavicles

An abnormally wavy surface or edge of the clavicles.


Reduced residual volume

Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation.


Erythroid hypoplasia

Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


inborn glycerol kinase deficiency

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


Fibular bowing

A bending or abnormal curvature of the fibula.


polyposis of gastric fundus without polyposis coli

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


Irregular epiphysis of the proximal phalanx of the 5th finger

Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.


Premature coronary artery atherosclerosis

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


Abnormal direction of ventricular apex

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


nodular cutaneous amyloidosis

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


Elevated circulating sacchoropine concentration

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


Hernia of the abdominal wall

The presence of a hernia in the abdominal wall.


Oligodactyly

A developmental defect resulting in the presence of fewer than the normal number of digits.


Lumbosacral hemangioma

A spinal cord hemangioma located in the lumbosacral spine region.


Abnormal palm morphology

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


Acquired abnormal hair pattern

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


Extrahepatic portal hypertension

Increased pressure in the pre-hepatic portal vein.


Adrenocortical cytomegaly

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


Progressive clavicular acroosteolysis

Progressive bone resorption in the distal part of the clavicle.


Focal polymicrogyria

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


EEG with series of focal spikes

Focal spikes occurring for several seconds.


Phantageusia

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


Short proximal phalanx of the 5th finger

Hypoplastic/small proximal phalanx of the fifth finger.


Aplasia/hypoplasia of the 1st metatarsal

Absence or underdevelopment of the first metatarsal bone.


Abnormal motor neuron morphology

Any structural anomaly that affects the motor neuron.


Abnormal pineal morphology

A structural abnormality of the pineal gland.


Deep white matter hypodensities

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


Flat glenoid fossa

Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.


Complete duplication of the distal phalanx of the 5th finger

Complete duplication of the distal phalanx of little finger.


Concave nasal ridge

Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.


Postural instability

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


Osteolytic defects of the 1st metatarsal

Dissolution or degeneration of bone tissue of the first metatarsal.


Abnormality of hair growth rate

Hair whose growth rate deviates from the norm.


polymorphic ventricular tachycardia

A ventricular tachycardia that is irregular in rate and rhythm.


Frequent Giardia lamblia infestation

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


Distal/middle symphalangism of 3rd finger

Fusion of the terminal/distal and middle phalanges of the 3rd finger.


Small epiphysis of the middle phalanx of the 3rd finger

Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.


Absent thumb

Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.


Abnormal alpha granule distribution

An anomalous location and arrangement of platelet alpha granules.


Focal impaired awareness myoclonic seizure

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


Recurrent mandibular subluxations

Recurrent partial dislocations of the mandible.


Triangular epiphysis of the proximal phalanx of the 5th toe


Abnormal circulating bilirubin concentration


Aplasia of the 5th finger

Absent 5th (little) finger.


Generalized muscle weakness

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


Abnormal internal carotid artery morphology

An abnormality of an internal carotid artery.


fibrous hamartoma of infancy

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


Focal impaired awareness vocal automatism seizure

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


Microtia, second degree

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


Small epiphysis of the proximal phalanx of the hallux


Abnormal erythrocyte adenosine triphosphate concentration

Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) outside of the normal range.


EBV encephalitis

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


Abnormal hypothalamus morphology

Any structural anomaly of the hypothalamus.


Osteolytic defects of the phalanges of the 5th toe


otosclerosis

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


Orthostatic syncope

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


Narrow nasal base

Decreased distance between the attachments of the alae nasi to the face.


Abnormal cortical radial artery endothelium morphology

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


Probst bundles

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


Uterine myxoma

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


CSF polymorphonuclear pleocytosis

An increased polymorphonuclear cell count in the cerebrospinal fluid.


Aplasia/Hypoplasia of the musculature of the thigh

Absence or underdevelopment involving the musculature of the thigh.


Neonatal electrographic only seizure

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


Epidermal thickening

Thickening of the epidermal layer of the skin.


Abnormal prosody

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


Anti-myelin-associated glycoprotein antibody positivity

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


Abnormal CSF isoleucine concentration

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


EEG with hyperventilation-induced epileptiform discharges

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


Irregular ossification of the radial metaphysis


Episodic hemiplegia

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


Talipes calcaneovalgus

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


Unexplained fevers

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


Delayed proximal femoral epiphyseal ossification

Developmental delay of ossification of the proximal epiphysis of the femur.


glycine encephalopathy

Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.


Double inlet to single ventricle of indeterminate morphology

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


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


Abnormal platelet ATP dense granule secretion

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


Excessive bleeding from superficial cuts

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


Abnormality of the hypothenar eminence

An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).


Abnormality of the crus of the helix

An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.


Focal T2 hypointense basal ganglia lesion

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


Acute esophageal necrosis

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


optic nerve sheath meningioma

A meningioma that affects the sheath of the optic nerve.


Elevated circulating 3-hydroxylinoleylcarnitine concentration

Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.


Hypoplasia of the midbrain

A developmental defect characterized by underdevelopment of the mesencephalon.


Abnormal palate morphology

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


Lack of peer relationships

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


Abnormal cardiomyocyte dystrophin staining

Anomalous staining of dystrophin in cardiomyocytes.


Trophic limb changes

Trophic changes occurring in a limb.


Macroprolactinoma

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


Aplasia/Hypoplastia of the eccrine sweat glands

Absence or developmental hypoplasia of the eccrine sweat glands.


voice disorders

A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.


Abnormality of folate metabolism

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


Type II truncus arteriosus

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


central polydactyly of fingers

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


Abnormal internal genitalia

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


Glomerular basement membrane wrinkling

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


Osteolytic defect of thumb phalanx

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


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

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


Small for gestational age

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


Somatosensory-induced seizure

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


Cortical radial artery intimal mucoid edema

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


Abdominal obesity

Excessive fat around the stomach and abdomen.


isolated familial wooly hair disorder

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


Abnormality of nasalis muscle

An abnormality of a nasalis muscle.


Abnormality of circulating cortisol level

An abnormality of the concentration of cortisol in the blood.


Nailfold capillary tortuosity

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


Decreased level of heparin co-factor II

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


Gallop rhythm

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


Reduced functional residual capacity

An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation.


Civatte bodies

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


patent foramen ovale

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


Lateral venous anomaly

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


Entrapment neuropathy of the ulnar nerve at elbow

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


Abnormal epiphysis morphology of the phalanges of the hand

Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).


Decreased circulating free fatty acid level


Vulvar hemangioma

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


Pseudoepiphysis of the middle phalanx of the 2nd toe

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


Enlarged fetal cisterna magna

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


Abnormal interpretation of external stimuli

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


Sclerosis of the middle phalanx of the 3rd finger


Submandibular lymph node enlargement

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


Addictive gambling behavior

The act of taking chances or engaging in behaviors without restraint, typically involving the wagering of something valuable, in pursuit of acquiring something of higher value.


Abnormal cardiovascular system physiology

Abnormal functionality of the cardiovascular system.


Sclerosis of 5th toe phalanx

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


Neonatal focal tonic seizure

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


Pituitary gonadotropic cell adenoma

A type of pituitary adenoma that produces gonadotropins.


Vacuolated hepatocytes

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


Bracket epiphysis of the proximal phalanx of the 2nd finger

An abnormality of the proximal 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.


Distal ulnar epiphyseal stippling

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


osteoarthritis, hip

Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.


Reduced epidermal bullous pemphigoid antigen 1 protein expression

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


Abnormal location of ears

Abnormal location of the ear.


Elevated forced expiratory volume in one second

An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject.


Dysplastic corpus callosum

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


Agenesis of permanent molar

Agenesis of secondary molar tooth.


Hypoisoleucinemia

A decreased amount of isoleucine in the blood.


Incomplete partition of the cochlea type I

Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation.


Unusual infection by anatomical site

An unusual infection classified by the affected body part.


Aplasia/Hypoplasia of the distal phalanx of the 4th finger


Progressive flexion contractures

Progressively worsening joint contractures.


Curved hallux phalanx

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


Abnormality of bone mineral density

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


progressive osseous heteroplasia

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


Impaired ADP-induced platelet aggregation

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


Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity

Activity or concentration of in the level of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12) in erythrocytes below the lower limit of normal.


Increased glucose-6-phosphate dehydrogenase level in leukocytes

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


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

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


Agenesis of permanent mandibular lateral incisor


Colonic stenosis

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


Abnormality of depressor labii inferioris

An abnormality of a depressor labii inferioris.


hypnic headache

Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.


Respiratory infections in early life

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


Abnormal dermatoglyphics

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


Fat malabsorption

Abnormality of the absorption of fat from the gastrointestinal tract.


Elevated circulating soluble CD25 concentration

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


Abnormal arcuate vein lumen morphology

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


sea-blue histiocyte syndrome

A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.


Ubiquitin-positive cerebral inclusion bodies

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


Increased T cell count

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


Seizure precipitated by febrile infection

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


Scapular muscle atrophy

Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.


Neck flexor weakness

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


Abnormal mean corpuscular volume

A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.


Stiff shoulders

Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.


Abnormal phalangeal joint morphology of the hand


Tracheal bronchus

Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced.


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

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


McConnell sign

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


Malaligned philtral ridges

Absence of the usual parallel position of philtral ridges.


Sonographic non-visualized fetal bladder

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


Shoulder adduction contracture

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


Ketotic hypoglycemia

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


Abnormal glucagon level

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


Shuffling gait

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


Neck pterygia

Pterygia affecting the neck.


Complete duplication of the distal phalanx of the 2nd finger

Complete duplication of the distal phalanx of index finger.


Focal aware pedal automatism seizure

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


Hypereosinophilia

A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter.


Hypoplastic fifth fingernail

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


univentricular heart

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


Focal impaired awareness hemiclonic seizure

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


Asparaginuria

An increased concentration of asparagine in the urine.


Lower limb undergrowth

Leg shortening because of underdevelopment of one or more bones of the lower extremity.


Impaired visually enhanced vestibulo-ocular reflex

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


isolated sulfite oxidase deficiency

Abnormally reduced sulfite oxidase level.