Unilateral lump kidney

A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly.


Focal aware atonic seizure

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

A type of focal atonic seizure during which awareness is fully retained throughout.


Pseudo-chilblains on toes

Inflammatory chilblain-like nodules on the feet and/or toes.


Tibialis muscle weakness

Muscle weakness affecting the tibialis anterior muscle.


Impaired social interactions

Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships.


Anti-type VII collagen antibody

The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII.


Abnormal LDL cholesterol concentration

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


Delayed fracture healing

A delay in healing of a fracture past the expected duration.


Multiple bladder diverticula

Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.


Pulmonary situs ambiguus

An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.


Abnormal delayed hypersensitivity skin test

Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.


Hypoplastic L5 vertebral pedicle

Underdeveloped pedicle of the fifth lumbar vertebra.


Tall chin

Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.


Increased urinary taurine

Increased concentration of taurine in the urine.


Patchy sclerosis of 3rd finger phalanx

Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.


Absent fourth finger distal interphalangeal crease

Absence of the distal interphalangeal flexion creases of the fourth finger.


Serpiginous stem of antihelix

Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.


Atrial situs ambiguous

Common atrium without defining morphologic features.


Submucous cleft of soft and hard palate

Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth.


Low-output congestive heart failure

A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.


Abnormal communicative facial expressions

Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers during social interactions) comprising abnormalities of quantity, range, context-appropriateness, and quality.


Vertebral wedging

An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.


Absent frontal sinuses

Aplasia of frontal sinus.


Progressive sensorineural hearing impairment

A progressive form of sensorineural hearing impairment.


Decreased number of small peripheral myelinated nerve fibers


Sertoli cell tumor

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

A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.


Osteoporosis of vertebrae

Osteoporosis affecting predominantly the vertebrae.


Chronic (near) absent circulating IgG2

A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured.


Lack of nonverbal response to verbal cues

A consistent failure to nonverbally respond to verbal cues such as a failure to shift attention or look at the source of the cue.


Weakness of long finger extensor muscles


Neurofibrillary tangles

Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.


Abnormal circulating membrane cofactor protein concentration

Concentration of membrane cofactor protein in the blood circulation outside the limits of normal. Membrane cofactor protein (MCP, CD46) is a cell surface complement regulatory protein which acts as a cofactor for the factor I-mediated cleavage of the activated complement components C3b/C4b.


Long philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.


Hypoplasia of lymphatic vessels

Congenital underdevelopment of lymph vessels.


Incomplete cleft soft palate

Cleft soft palate in which the cleft doe not goes through the entire length of the soft palate.


Severe receptive language delay

A severe delay in the acquisition of the ability to understand the speech of others.


Abnormal tubular basement membrane morphology

Abnormal structure of the basement membrane of the renal tubulus.


Abnormal myeloid leukocyte morphology

An abnormality of myeloid leukocytes.


Midline skin dimples over anterior/posterior fontanelles


Abnormal circulating glycine concentration

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


Anti-class I HLA antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C).


Asymmetric radial dysplasia

The presence of asymmetric developmental dysplasia of the radius.


Focal emotional seizure with agitation

Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation 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.


White lesion of the oral mucosa

White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.


Increased circulating metamyelocyte count

An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1.


Anti-BP180 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against BP180.


Patchy sclerosis of middle toe phalanx

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


Focal aware cognitive seizure

A focal aware cognitive seizure during which awareness is retained throughout the seizure.


Erectile dysfunction

A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.


Blebbing of apical cytoplasm of renal tubular epithelial cells

Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule.


Cone-shaped epiphysis of the middle phalanx of the 4th toe


Abnormal proportion of double-negative alpha-beta regulatory T cell

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


Aplasia/Hypoplasia of the pancreas

A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.


Abnormality of the epiphysis of the middle phalanx of the 4th finger


Hydromyelia

Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.


Lower extremity hypokinesia

Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.


Abnormal pineal melatonin secretion

An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.


Pseudoepiphysis of the proximal phalanx of the 3rd finger

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


Intention tremor

A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).


Pituitary growth hormone cell adenoma

A type of pituitary adenoma that produces growth hormone.


Maxillary lateral incisor microdontia

Decreased size of the maxillary permanent incisor.


Green teeth

A green staining of teeth.


Decreased circulating dehydroepiandrosterone-sulfate concentration

A reduced concentration of dehydroepiandrosterone-sulfate in the blood.


Decreased CSF glutamine concentration

Abnormally decreased levels of glutamine in cerebrospinal fluid.


Polyminimyoclonus

Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant.


Autoamputation of digits

The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.


Congenital posterior occipital alopecia

Loss of hair in the occipital region of the scalp with congenital onset.


Permanent junctional reciprocating tachycardia

An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.


Short 3rd toe

Underdevelopment (hypoplasia) of the third toe.


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


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, 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

A varicose disease that involves the mammalian vulva.


Increased circulating globulin level

An abnormally elevated concentration of globulins in the blood.


Biliary tract obstruction

Obstruction affecting the biliary tree.


Postural hypotension with compensatory tachycardia


Sclerosis of the distal phalanx of the 3rd finger


Hashimoto thyroiditis

An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.


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.


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.


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


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.


Reduced forced vital capacity

An abnormal reduction in the amount of air a person can expel following maximal inspiration.


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.


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 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.


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.


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).


Delayed myelination

Delayed myelination.


Triangular epiphysis of the distal phalanx of the 5th toe


Elevated urine 3-hydroxyglutaric level

Amount of 3-hydroxyglutaric acid in urine above the upper limit of normal.


Hand oligodactyly

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


Interhypothalamic adhesion

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


migraine with aura

A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.


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.


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.


Motor impersistence

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


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.


Hypochromia

A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.


Hyponatriuria

An abnormally decreased sodium concentration in the urine.


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.


Punctate vertebral calcifications

The presence of punctiform calcification of the bone of the vertebral bodies.


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.


Large for gestational age

The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.


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.


Right atrial enlargement

Increase in size of the right atrium.


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.


Cat cry

The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.


Decreased platelet glycoprotein Ib-IX-V

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


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.


obstructive hydrocephalus

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


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.


Cystocele

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


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.


Pronoun reversal

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


Male anorgasmia

Inability of a male to reach orgasm.


glutaric aciduria

An increased concentration of glutaric acid in the urine.


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


Congenital defect of the pericardium

A developmental defect of the pericardium with congenital onset.


Fish odor

Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.


Infantile axial hypotonia

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


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.


Recurrent viral infections

Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.


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.


Abnormal concentration of acylcarnitine in the urine

An abnormal amount of acylcarnitine in the urine.


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).


Bronchopulmonary sequestration

The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree.


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.


Neutropenia in presence of anti-neutropil antibodies

A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.


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.


hydroa vacciniforme

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


Multiple central nervous system lipomas

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.


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.


Abnormality of 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.


Absence of the third cerebral ventricle

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


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.


Macrogyria

Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum.


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.


Decreased urinary potassium

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


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.


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.


Hypoplastic iliac body

Underdevelopment of the body of ilium.


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.


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.


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.


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.


Abnormal motor nerve conduction velocity


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.


Short middle phalanx of the 3rd toe

Developmental hypoplasia of the middle phalanx of third toe.


Elevated CSF biopterin level

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


Triangular epiphysis of the middle phalanx of the 4th toe


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.


Hump-shaped mound of bone in central and posterior portions of vertebral endplate


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.


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.


Abnormal sperm motility

An anomaly of the mobility of ejaculated sperm.


Single interphalangeal crease of fifth finger

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


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.


Abnormal gallbladder physiology

A functional anomaly of the gallbladder.


Abnormal urinary nucleobase concentration

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


Subchorionic septal cyst

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


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).


Clinodactyly

An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).


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.


Abnormal circulating aspartic acid concentration

Any deviation from the normal concentration of aspartate 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.


Ureteral hypoplasia

Underdevelopment of the ureter.


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.


Perinephric abscess

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


Sense of impending doom

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


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.


Prostate mass

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


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.


Abnormal nonverbal communicative behavior

Abnormalities in eye contact, communicative facial expressions, gesture use, or use of other's body to communicate. These convey a shared meaning within a culture that replace or supplement verbal communication.


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.


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.


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.


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.


Urethral atresia, male

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


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.


omphalitis

Inflammation of the umbilical cord stump in newborns.


Complete duplication of the proximal phalanx of the 5th toe

Complete duplication of the proximal phalanx of fifth toe.


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.


Wolff-Parkinson-White syndrome

A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes.


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.


Bifid scrotum

Midline indentation or cleft of the scrotum.


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.


Urogenital sinus anomaly

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


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.


Episodic hypersomnia

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


Diminished health-related quality of life

A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles.


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.


Elevated urine mevalonic acid level

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


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.


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).


Recurrent Klebsiella infections

Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.


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


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.


Methylmalonic acidemia

Increased concentration of methylmalonic acid in the blood.


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.


Abnormal urine carbohydrate level

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


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.


Increased urinary zinc level

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


Curved toe phalanx

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


Small sella turcica

An abnormally small sella turcica.


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.


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


Bifid ureter

Incomplete duplication of the ureter.


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


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.


neuroendocrine neoplasm

Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion).


Reduced residual volume

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


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.


3-hydroxydicarboxylic aciduria

An increase in the level of 3-hydroxydicarboxylic acid in the urine.


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.


Neologism

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


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.


Monorchism

Having only one testis in the scrotum.


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.


Abnormal brain choline/creatine ratio by MRS

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


EEG with series of focal spikes

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.


Palatal edema

Swelling related to fluid accumulation within the palate.


Fused lumbar vertebrae

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


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.


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 brain N-acetyl aspartate level by MRS

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


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


Decreased miniature endplate potentials

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


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


Orthostatic syncope

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


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.


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.


Elevated urinary uromodulin

An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine.


Epidermal thickening

Thickening of the epidermal layer of the skin.


Metopic depression

Linear vertical groove in the midline of the forehead, extending from hairline to glabella.


Glycopeptiduria

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


Abnormal prosody

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


Bilateral tonic-clonic seizure with focal onset

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


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.


Urinary tract atresia

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


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.


Elevated placental alkaline phosphatase

An abnormally increased level of alkaline phosphatase, placental type in the blood.


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.


Atretic vas deferens

Abnormal closure or blockage of the vas deferens.


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.


Hypoplasia of the thymus

Underdevelopment of the thymus.


Abnormal cardiomyocyte dystrophin staining

Anomalous staining of dystrophin in cardiomyocytes.


Trophic limb changes

Trophic changes occurring in a limb.


Abnormal sperm principal piece morphology

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


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.


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.


Stercoral ulcer

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


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).


pustulosis palmaris et plantaris

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


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.


isolated familial woolly 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 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


Reduced functional residual capacity

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