Abnormal lingual artery morphology

Any structural abnormality of a lingual artery.


atransferrinemia

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

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.


Myelin tomacula

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The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).


Granulomatous arteriolitis of the arteriolar intima/media

A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


Visceral epithelial cell hyperplasia

Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.


Agenesis of first permanent molar tooth

Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.


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

A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.


Abnormality of the epiphyses of the feet

Any abnormality of the epiphyses of the feet.


Metabolic ketoacidosis

A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.


Bacterial cell casts

A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.


spondyloepimetaphyseal dysplasia, Strudwick type

A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).


Reduced collaborative play

Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5.


Anti-Iglon5 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5).


Gastrointestinal duplication

A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.


Abnormal morphology of the proximal phalanx of the 3rd toe

An anomaly of the proximal phalanx of third toe.


Absent metacarpal epiphyses

Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.


Pulmonary capillary angioectasia

Focal accumulation of dilated pulmonary capillaries.


Glomerular proteinuria

A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin.


Long thumb

Length of the thumb is greater than normal.


Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Dagger-shaped pulp calcifications

Dagger-shaped calcifications in the dental pulp.


Kommerell diverticulum

Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.


Metastatic angiosarcoma

An angiosarcoma that has spread to another anatomical site.


Ectopic respiratory mucosa

Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations.


Abnormal humeral ossification

An anomaly of the process of formation of bone in the humerus.


Abnormality of the epiphysis of the 5th metacarpal

Any abnormality of the epiphysis of the fifth metacarpal bone.


alobar holoprosencephaly

Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.


Metaphyseal irregularity

Irregularity of the normally smooth surface of the metaphyses.


Segmentally thickened glomerular basement membrane

Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.


Glomerular parietal epithelial cell hyperplasia

Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.


Colonic diverticula

The presence of multiple diverticula of the colon.


Abnormal cellular immune system morphology

An abnormality of the morphology or counts of the cells that make up the immune system.


Abnormal coronary artery origin

Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.


Visual sensory seeking

Pursuit visual stimulation by looking at specific sights, images, and/or colors that is abnormal in intensity and/or frequency.


Interosseus muscle atrophy

Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.


Focal cognitive seizure with memory impairment

A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).


osteopetrosis

Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.


Myotonia with warm-up phenomenon

Myotonia that occurs after a period of rest and decreases with continuing exercise.


Nodular septal thickening on pulmonary HRCT

Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.


Impaired proprioception

A loss or impairment of the sensation of the relative position of parts of the body and joint position.


Sclerosis of the middle phalanx of the 4th toe


Internal notch of the femoral head

A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.


Duplication of thumb phalanx

Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Hepatopulmonary fusion

Fusion of the liver with the lung.


Vaginal hernia

The presence of a hernia of the vagina.


regional odontodysplasia

Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.


Abnormal hip bone morphology

An abnormality of the hip bone.


Pancreatic hypoplasia

Hypoplasia of the pancreas.


Abnormal autonomic nervous system morphology

A structural abnormality of the autonomic nervous system.


Focal cognitive seizure with dissociation

A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.


Widened cerebral subarachnoid space

An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.


Middle cerebral artery stenosis

Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.


Hypopigmented genitalia

Localized or generalized decreased genital pigmentation.


Decreased circulating aspartic acid concentration

An reduced concentration of aspartic acid in the blood circulation.


Distal sensory impairment

An abnormal reduction in sensation in the distal portions of the extremities.


Elevated CSF fumarate concentration

An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.


Lytic defects in metaphyses of the upper limbs


Renal interstitial hemosiderin

Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.


Narrow nasal bridge

Decreased width of the bony bridge of the nose.


Sclerosis of hallux phalanx

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


Recurrent bronchiolitis

An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.


Pseudoepiphysis of the proximal phalanx of the 2nd toe

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


Intercrural pterygium

A pterygium (or pterygia) in the intercrural (groin) region.


Absent facial hair

Absence of facial hair.


Recurrent urinary tract infections

Repeated infections of the urinary tract.


Bifid humerus

Clefting affecting the humerus.


Mozart ear

A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.


Abnormal muscle physiology

A functional abnormality of a skeletal muscle.


Additional crus of antihelix

Supernumerary ridge or crus of the ear arising from the antihelix.


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


Ovotestis

A gonad that contains both ovarian follicles and testicular tubular elements.


Abnormal circulating inhibin level

Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.


Abnormal circulating C-peptide concentration

An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.


Phantosmia

Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.


Bullet-shaped distal toe phalanx

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


2,8-dihydroxyadenine crystalluria

The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals.


Coarctation of the descending aortic arch

Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.


Podocyte myelin figures

Lamellated intracytoplasmic lipid inclusions within podocytes.


Spontaneous pain sensation

Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.


Abnormal bone structure

Any anomaly in the composite material or the layered arrangement of the bony skeleton.


Spastic tetraparesis

Spastic weakness affecting all four limbs.


Increased level of ribose in CSF

An increase in the level of ribose in the cerebrospinal fluid.


Symphalangism affecting the middle phalanx of the 3rd toe


Increased amyloid beta 40 peptide CSF concentration

An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF).


Decreased circulating androstenedione concentration

Reduced concentration of androstenedione in the blood circulation.


Alcohol-induced rhabdomyolysis

Rhabdomyolysis induced by intake of alcohol.


Small basal ganglia

Decreased size of the basal ganglia.


Peau d'orange

Swelling and dimpling of the surface of the skin, which is typically associated with carcinoma of the breast.


Short 4th metacarpal

Short fourth metacarpal bone.


Posterior scalloping of vertebral bodies

An excessive concavity of the posterior surface of one or more vertebral bodies.


Clubbing

Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.


Papillary cystadenoma of the epididymis

A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.


Proximal radial head dislocation

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


Renal arteriole medial atrophy

Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney.


Generalized-onset epileptic spasm

A type of epileptic spasm of generalized onset.


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).


Frontalis muscle weakness

Reduced strength of the frontalis muscle (which is located on the forehead).


seizures-intellectual disability due to hydroxylysinuria syndrome

Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.


Aplasia/hypoplasia of the proximal phalanx of the 3rd toe

Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe.


Celiac artery dissection

A separation (dissection) of the layers of the celiac artery wall.


Increased circulating arachidonic acid concentration

An increased circulation of arachidonic acid in the blood circulation.


Vaginal atresia

Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.


Urinary bladder neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder.


Abnormal fourth toe morphology

An anomaly of the fourth toe.


Severe expressive language delay

A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.


Right aortic arch with retroesophageal diverticulum of Kommerell

Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.


Abnormality of the premaxilla

An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.


Distal upper limb muscle weakness

Reduced strength of the distal musculature of the arms.


Prenatal movement abnormality

An abnormality of fetal movement.


Aplasia of the bladder

Aplasia (absence) of the urinary bladder.


Abnormal natural killer cell physiology

A functional anomaly of the natural killer cell.


Increased serum serotonin

A increased concentration of serotonin in the blood.


Abnormal large intestinal mucosa morphology

A structural anomaly of the mucous lining of the large intestine.


Cortical radial artery medial/intimal arteriitis

Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.


Increased pulmonary capillary wedge pressure

Pulmonary capillary wedge pressure (PCWP) above 15mmHg.


Limited knee flexion/extension

A limited ability of the knee joint to perform extension and flexion.


Focal hypointensity of cerebral white matter on MRI


Elevated circulating hexacosanoic acid concentration

Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation.


Focal aware emotional seizure with laughing

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


Moderate receptive language delay

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


Common atrium

Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.


Bracket epiphysis of the middle phalanx of the 3rd finger

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


Enlarged epiphysis of the distal phalanx of the 3rd toe


Abnormal pulmonary fissure morphology

An abnormal form or number of the pulmonary fissures.


Bile duct proliferation

Proliferative changes of the bile ducts.


Specific learning disability

Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.


Neurodevelopmental delay

Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.


Calcaneovalgus deformity

This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).


spasmodic dystonia

A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.


Increased glucagon level

An elevated concentration of glucagon in the blood circulation.


colpocephaly

Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.


Large carpal bones

Increased size of carpal bones.


scapuloperoneal myopathy

A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.


Primary microcephaly

Head circumference below 2 standard deviations below the mean for age and gender at birth.


Abnormal acetabulum morphology

An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.


High nonceruloplasmin-bound serum copper

An increased concentration of non ceruloplasmin bound copper in the blood.


odontogenic neoplasm

A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.


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

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


Enlarged thumb epiphysis

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


Glabellar reflex

A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.


Left superior vena cava draining to coronary sinus

A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.


Neonatal bilateral symmetric 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) wich occurs at both sides of the body symmetrically.


Complete duplication of the proximal phalanx of the 4th toe


Gastric hypertrophy

Hypertrophy of the stomach.


Increased proportion of naive B cells

An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


EEG with generalized polymorphic epileptiform discharges

Generalized epileptiform discharges of different shapes and frequencies.


hypothyroidism, congenital, nongoitrous, 2

A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.


Decreased circulating 12-HETE

A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.


Mesangial Immune complex deposition

Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.


Absent lanugo

Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby.


Anti-neurofascin 186 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.


Anomalous origin of the left anterior descending artery from the pulmonary artery

The left anterior descending artery (LAD) branches off from the pulmonary artery.


Abnormality of the sphenoid sinus

An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.


Abnormal liver function tests during pregnancy


Duplication of the phalanges of the 2nd toe

Partial or complete duplication of a phalanx of second toe.


Increased serum estrone

An elevation above normal limits of the concentration of estrone in the circulation.


Focal impaired awareness sensory seizure with auditory features

A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.


Focal aware hyperkinetic seizure

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


Antigliadin antibody positivity

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


Intrahepatic bile duct cysts

The presence of cyst of the intrahepatic bile duct.


Abnormal ciliary motility

Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.


Abnormality of the hand

An abnormality affecting one or both hands.


Enhancement of the C-reflex

Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.


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

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


central nervous system primitive neuroectodermal neoplasm

A neuroectodermal tumor that involves the central nervous system.


Abnormal pulmonary valve physiology

Any functional anomaly of the pumonary valve.


Nervous tissue neoplasm

A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).


Abnormality of the epiphyses of the 5th finger

Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.


Abnormal hippocampus morphology

Any structural anomaly of the hippocampus,


Abnormal ankle morphology

A structural anomaly of the ankle.


Urethral valve

The presence of an abnormal membrane obstructing the urethra.


Supernumerary spleens

The presence of two or more accessory spleens.


Abnormality of the internal auditory canal

An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.


Decreased serum estrone

A reduction below normal limits of the concentration of estrone in the circulation.


Confusional arousal

A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours.


Medullary peritubular capillary erythrocyte congestion

Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open).


Elevated brain glutamine level by MRS

An increased in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).


Short sperm flagella

Sperm cells with abnormally short flagella.


Abnormality of toe proximal phalanx

A morphological anomaly of one or more proximal phalanges of one or more toes.


Moderate to late preterm birth

Birth at 32 to 36 completed weeks of gestation.


Upper limb undergrowth

Arm shortening because of underdevelopment of one or more bones of the upper extremity.


Bilateral symmetric neonatal sequential seizure

Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.


Abnormal peristalsis

An anomaly of the wave-like muscle contractions of the digestive tract.


encephalomalacia

Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.


Multifocal splenic abscess

Multiple abscess lesions in the spleen.


EEG with spike-wave complexes (2.5-3.5 Hz)

The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).


Generalized osteosclerosis

An abnormal increase of bone mineral density with generalized involvement of the skeleton.


Libman-Sacks lesions

Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.


Discolored lateral incisors

The presence of discolored lateral incisors.


Stippling of the epiphyses of the proximal phalanges of the hand


Focal cognitive seizure with deja vu/jamais vu

A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.


Short middle phalanx of the 4th toe

Developmental hypoplasia of the middle phalanx of fourth toe.


Temporal lobe megalencephaly

Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain.


Pseudobulbar signs

Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.


Slender middle phalanx of finger

Reduced diameter of the middle phalanx of finger.


Decreased circulating gonadotropin concentration

A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


Aplasia/Hypoplasia of the middle ear

Aplasia or developmental hypoplasia of all or part of the middle ear.


Adult onset sensorineural hearing impairment

The presence of sensorineural deafness with late onset.


Club-shaped proximal femur

An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.


Face of the giant panda sign

The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda.


Focal clonic seizure

A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.


levocardia

A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.


Imbalanced hemoglobin synthesis

Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.


Absent cervical vertebra

A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.


Absent epiphysis of the proximal phalanx of the 3rd finger

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


Cortical radial artery intraluminal organized thrombi

Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


verruciform xanthoma of skin

A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.


cocaine dependence

A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.


placenta accreta

The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)


Focal epileptiform discharges with limited propagation to contralateral hemisphere

Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.


Abnormality of the first metatarsal bone

An anomaly of the first metatarsal bone.


Decreased motor nerve conduction velocity

A type of decreased nerve conduction velocity that affects the motor neuron.


Elevated urinary N,N-dimethylglycine level

An increased concentration of N,N-dimethylglycine in the urine.


Abnormal lymph node cell composition

A deviation from the normal distribution of cell types or their relative proprotions in a lymph node.


Osteolytic defects of the proximal phalanx of the 2nd toe


choanal atresia

Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.


Decreased CSF histidine concentration

Abnormally decreased levels of histidine in cerebrospinal fluid.


Hepatic bridging fibrosis

Hepatic fibrosis that reaches from a portal area to another portal area.


Tented upper lip vermilion

Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.


Reduced CSF dopamine concentration

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


Food-induced anaphylaxis

Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.


Pulmonary venous hypertension

An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.


Increased blood folate concentration

An elevated circulating concentration of folic acid, which is also known as vitamin B9.


Happy demeanor

A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context.


Abnormality of B cell physiology

An abnormality of the physiological functioning of B cells.


Abnormality of the clivus

An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.


Disseminated nontuberculous mycobacterial infection

An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.


Abnormal synaptic transmission at the neuromuscular junction

Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.


Contracture of the distal interphalangeal joint of the 3rd finger

Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.


Fulminant hepatic failure

Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.


brachydactyly type A4

Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.


Tracheal duplication cyst

A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium.


Jaw claudication

Pain in the jaw or ear induced by chewing or otherwise moving the jaw.


Abnormal spinal meningeal morphology

Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.


Cellular crescent

A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix.


Chronic furunculosis

A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.


EEG with frontal focal spike waves

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


Increased urine succinate level

An increase in the level of succinate in the urine.


Renal interstitial hemorrhage

A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.


Cone-shaped epiphysis of the proximal phalanx of the hallux


Shortening of all distal phalanges of the toes

Abnormally short distal phalanx of toe of all toes.


Ivory epiphysis of the proximal phalanx of the 4th finger

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


Myotonia of the upper limb

Slowed relaxation of muscles in the arm.


supratentorial primitive neuroectodermal tumor

A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.


Pituitary calcification

Deposition of calcium salts in the pituitary gland.


Decreased iduronate sulfatase level

An decreased level of iduronate-2-sulfatase activity in the blood circulation.


Abnormality of the lower urinary tract

An abnormality of the lower urinary tract.


Aplasia cutis congenita over the scalp vertex

A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.


Mallory-Weiss syndrome

A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics.


Distal peripheral sensory neuropathy

Peripheral sensory neuropathy affecting primarily distal sensation.


Impaired leukocyte adhesion

During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation.


EEG with parietal epileptiform discharges

Focal epileptiform EEG discharges recorded in the parietal region.


Ureteral atresia

A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.


Brain xanthomatosis

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


Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration

An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.


Straight clavicles

An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .


Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Abnormal oral mucosa morphology

Abnormality of the oral mucosa.


Tiger tail banding

An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.


Fractured lumbar vertebra

A partial or complete breakage of the lumbar vertebra.


Eating-induced seizure

A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.


Focal aware sensory seizure with vestibular features

A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.


Abnormal cortical gyration

An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.


Clinodactyly of the 4th toe

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


Abnormality of the distal phalanx of the 5th toe


Prominent xiphoid process

Increased prominence of the xiphoid process of the sternum.


Cerebral inclusion bodies

Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.


Cochlear aplasia

Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.


Bilateral conductive hearing impairment

A bilateral type of conductive hearing impairment.


Double aortic arch

A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).


Exercise-induced hemolysis

A form of hemolytic anemia that can be triggered by exertion.


Nail-biting

Habitual biting of one's own fingernails.


Patellar dislocation

The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.


Elevated urine octenedioic acid level

Amount of octenedioic acid in the urine above the upper limit of normal.


Humeroulnar synostosis

An abnormal osseous union (fusion) between the ulna and the humerus.


Short toe

A toe that appears disproportionately short compared to the foot.


Bullet-shaped proximal phalanx of the 4th toe

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


Pseudoepiphyses of the proximal phalanges of the hand

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


Calcium phosphate nephrolithiasis

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


cervical incompetence

A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis.


Muscular subvalvular aortic stenosis

A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.


Absent phalangeal crease

Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).


Sclerosis of the proximal phalanx of the 4th toe


Metaphyseal enchondromatosis

An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.


Hyperactive renin-angiotensin system

An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.


External ear malformation

A malformation of the auricle of the ear.


Abnormal tricuspid valve physiology

Any functional defect of the tricuspid valve.


Complete cleft hard palate

Cleft hard palate in which the cleft goes through the entire length of the hard palate.


Elevated urinary monocarboxylic acid level

Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.


Persistent fever

Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.


Enlarged epiphysis of the proximal phalanx of the 3rd toe


Fragmentation of the epiphyses of the distal phalanges of the hand


Elevated red cell adenosine deaminase level

Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.


Curved distal phalanx of the 3rd toe

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


Abnormality of artery of lower lip

An abnormality of an artery of lower lip.


Myoclonic tremor

A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.


Abnormal alpha granule content

A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.


Chronic decreased circulating IgG3

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


Abnormal blood folate concentration

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


Anterior wedging of L2

An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).


Aplasia of the fallopian tube

Aplasia, that is failure to develop, of the fallopian tube.


Transient decreased circulating IgG4

A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.


Supracardiac total anomalous pulmonary venous connection

Type 1 total anomalous pulmonary venous connection.


Reduced forced expiratory volume in one second

An abnormal reduction in the amount of air a person can forcefully expel in one second.


Reduced circulating growth hormone concentration

Concentration of growth hormone in the blood circulation below normal limits.


Gonadal dysgenesis with female appearance, male

Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.


Anemia due to reduced life span of red cells

A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.


pseudohypoparathyroidism

Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).


Abnormal HDL3c concentration

Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Hypomanganesemia

A reduction below the normal concentration of manganese in the blood.


Decreased pre-bronchodilator forced expiratory flow 25-75%

A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication.


Abnormal oral glucose tolerance

An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.


Pancreatic calcification

The presence of abnormal calcium deposition lesions in the pancreas.


Leukocyte inclusion bodies

The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.


Autonomic epileptic aura

An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.


Urinary bladder sphincter dysfunction

Abnormal function of a sphincter of the urinary bladder.


Smooth philtrum

Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.


Recurrent respiratory infections

An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.


Abnormal fear/anxiety-related behavior

An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.


Cortical thickening of the forearm bones


Homocitrullinuria

An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders.


Decreased circulating T4 concentration

A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).


Oropharyngeal squamous papilloma

A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].


Cervical spinal canal stenosis

An abnormal narrowing of the cervical spinal canal.


Hypermobility of toe joints

An ability of the toe joints to move beyond their normal range of motion.


Type I cryptotia

A type of cryptotia associated with reduction in size of the antihelix and superior crus.


Small intestinal polyposis

The presence of multiple polyps in the small intestine.


Passive dorsiflexion of the 5th finger more than 90 degrees

An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.


Reduced brain glutamine level by MRS

An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).


Chronic disseminated intravascular coagulation

A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.


Stippling of thumb epiphysis

The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.


Abnormality of the respiratory system

An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.


Refractory status epilepticus

Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.


Prominent scrotal raphe

Increased size of the ridge of tissue that extends along the midline of the scrotum.


autosomal dominant prognathism

Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).


Abnormality of the elbow

An anomaly of the joint that connects the upper and the lower arm.


Spoken word recognition deficit

Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.


Hemihypertrophy of lower limb

Overgrowth of only one leg.


Increased level of galactitol in plasma

An increase in the level of galactitol in the plasma.


Myocardial fibrosis

Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.


Periventricular ribbonlike heterotopia

Heterotopia that forms a continuous wavy line along the ventricular wall.


Inflammatory cap polyp

A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.


Abnormal fetal cardiovascular physiology

Abnormal functionality of the fetal cardiovascular system.


inherited torticollis

A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.


Recurrent pharyngitis

An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.


Fibro-obliterative bile-duct lesion

A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar.


Abnormal proportion of CD4-positive, alpha-beta memory T cells

An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Atypical absence seizure

An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.


Butterfly vertebral arch

Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.


Abnormal urine urobilinogen level

An abnormal concentration of urobilinogen in the urine.


Abnormality of dental morphology

An abnormality of the morphology of the tooth.


Pulmonary paraglioma

A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.


46,XY complete gonadal dysgenesis

46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.


Intranuclear cardiomyocyte mitochondria

Abnormal localization of mitochondria within the nuclei of cardiomyocytes.


Pleural cyst

A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.


Anti-GM1 IgM antibody positivity

The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1.


Postcoital vaginal bleeding

Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle.


Respiratory insufficiency due to defective ciliary clearance


Gingival fragility

Gums that are easily damaged.


Abnormal immunoglobulin level

An abnormal deviation from normal levels of immunoglobulins in blood.


Intermediate atrioventricular canal defect

A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.


Large iliac wing

Increased size of the ilium ala.


Tetralogy of Fallot with pulmonary atresia

An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.


Abnormal cystatin C level

Any deviation from the normal concentration of cystatin C in serum or plasma.


Perinuclear cardiomyocyte vacuolization

Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.


Slow-growing scalp hair

Scalp hair whose growth is slower than normal.


Abnormality of the biliary system

An abnormality of the biliary system.


Infantile hydrocele

Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation.


Obstructive shock

A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).


Impaired renal tubular reabsorption of magnesium

Decreased renal tubular reabsorption of magnesium.


Short dental root

Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.


Triangular epiphysis of the distal phalanx of the 5th finger

A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Absent epiphysis of the middle phalanx of the 5th toe


Tetraplegia/tetraparesis

Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.


Flattened proximal radial epiphyses

An abnormally flat form of the proximal epiphysis of the radius.


Absent epiphysis of the distal phalanx of the 5th toe


Decreased CD69 upregulation upon TCR activation

Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).


Abnormal dental pulp morphology

An abnormality of the dental pulp.


Decreased glucagon level

A reduced concentration of glucagon in the blood circulation.


Wide anterior fontanel

Enlargement of the anterior fontanelle with respect to age-dependent norms.


Complete duplication of the proximal phalanx of the hallux

Complete duplication of the proximal phalanx of big toe.


Reduced circulating C-reactive protein concecntration

An abnormal decrease of the C-reactive protein level in serum.


Thickened helices

Increased thickness of the helix of the ear.


Beevor's sign

Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus.


pituitary hypoplasia

Incomplete development of the pituitary gland.


Lop ear

Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.


Prominent occiput

Increased convexity of the occiput (posterior part of the skull).


EEG with frontal sharp waves

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


Bilateral tonic-clonic seizure on awakening

Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).


Leucinuria

Increased level of leucine in urine.


Hydrometrocolpos

Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.


Partial anosmia

Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).


Short first metatarsal

Short first metatarsal bone.


Glomerular capillary wall duplication with cellular interposition

Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.


Elevated urine 4-hydroxyisovaleric acid level

Amount of 4-hydroxyisovaleric acid in urine above upper limit of normal.


Lethal short-trunk short stature

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.


Aortic rupture

Tearing of the aortic wall generally associated with profuse internal bleeding.


Thin clavicles

Abnormally reduced diameter (cross section) of the clavicles.


Increased circulating dehydroepiandrosterone-sulfate concentration

Increased circulating concentration of dehydroepiandrosterone-sulfate, a precursor of testosterone and estrogen.


Fragile nails

Nails that easily break.


Abnormality of the immune system

An abnormality of the immune system.


Abnormal gallbladder morphology

A structural anomaly of the gallbladder.


Neoplasm of the anterior pituitary

A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.


Abnormally low T cell receptor excision circle level

Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.


Complete cleft soft palate

Cleft soft palate in which the cleft goes through the entire length of the soft palate.


Abnormal liver metabolite concentration

The concentration of a metabolite in the liver is above or below the limits of normal.


Absent tonsils

Lack of observable tonsillar tissue.


Renal interstitial granulomas

Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.


Gastric arteriovenous malformation

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


Delayed gross motor development

A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.


episodic ataxia type 1

Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.


Hypoplastic frontal sinuses

Underdevelopment of frontal sinus.


Hepatic periportal necrosis

A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.


Complete duplication of the 1st metatarsal

A developmental defect consisting in the complete duplication of the first metatarsal bone.


Stippling of the epiphyses of the 3rd toe

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


Elevated circulating dihydrouracil concentration

An increased concentration of dihydrouracil in the blood circulation. Dihydrouracil is an intermediate in the catabolism of uracil that is also known as 5,6-dihydrouracil.


Partial diaphragmatic absence of pericardium

Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.


Abnormal jugular vein morphology

Any structural abnormality of a jugular vein.


Dimple chin

A persistent midline depression of the skin over the fat pad of the chin.


Abnormality of the spinocerebellar tracts

An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.


Widened greater sciatic notch

The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.


Portal fibrosis

Fibroblast proliferation and fiber expansion from the portal areas to the lobule.


Modic type vertebral endplate changes

An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.


Abnormal response to gonadotropin-releasing hormone stimulation test

An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Complete breech presentation

A kind of breech presentation in which the hips are flexed and the knees are flexed.


Ivory epiphysis of the distal phalanx of the 2nd toe


Increased circulating mead acid level

An abnormally elevated concentration od mead acid in the blood circulation.


Decreased proportion of naive T cells

An abnormally decreased proportion of naive T cells relative to the total number of T cells.


Anti-voltage-gated potassium channel antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel.


Abnormality of the auditory canal

An abnormality of the External acoustic tube (also known as the auditory canal).


Bracket epiphysis of the 1st metatarsal

The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.


Fractured distal tarsal bone 2

A partial or complete breakage of the distal tarsal bone 2.


Abnormal number of hair whorls

More than two clockwise hair whorls.


Triangular epiphyses of the 4th finger

A triangular appearance of the epiphyses of the 4th finger of the hand.


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


Bilateral triphalangeal thumbs

A bilateral form of triphalangeal thumb.


Abnormal interest in others

A social interest in others that is abnormal given the social context. This can include an increased interest with another person or an abnormal lack of interest in other people.


Cardiac hemangioma

Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.


Aplasia/Hypoplasia of facial bones

A developmental defect characterized by absence or underdevelopment of one or more facial bone.


Distal aortic arch hypoplasia

A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta.


Focal impaired awareness sensory seizure with vestibular features

A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.


Weakness due to upper motor neuron dysfunction

Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.


Renal juxtaglomerular cell hypertrophy/hyperplasia

Increased number and size of the juxtaglomerular cells.


Proximal humeral metaphyseal irregularity

Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).


Patchy sclerosis of the middle phalanx of the 5th toe

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


Autonomic bladder dysfunction

Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.


Fingernail dysplasia

An abnormality of the development of the fingernails.


Bowed forearm bones

A bending or abnormal curvature affecting either the radius, the ulna, or both.


Increased CSF glutamate concentration

Abnormally increased levels of glutamic acid in cerebrospinal fluid.


Horseshoe lung

A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.


Fallopian tube duplication

The presence of a supernumerary Fallopian tube.


T2 hypointense basal ganglia

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


Increased urinary type 1 collagen N-terminal telopeptide level

An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.


Focal cognitive seizure with dyslexia/alexia

A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.


Midshaft hypospadias

Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.


Abnormal oligodendroglia morphology

One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.


Short distal phalanx of the 3rd toe

Developmental hypoplasia of the distal phalanx of third toe.


Abnormal red blood cell count

Any deviation from the normal number of red blood cells per volume in the circulation.


Bilateral apical pulmonary fibrosis

A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray.


Decreased CSF protein concentration

CSF total protein level is below the lower limit of normal.


Absent testis

Testis not palpable in the scrotum or inguinal canal.


Increased urinary non-proteinogenic amino acid level

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


Patchy sclerosis of the proximal phalanx of the 4th finger

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


Fractured acetabular part of hip bone

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


otitis media, susceptibility to

Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.


Acrobrachycephaly

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


Prolonged P wave

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


Myoclonic status epilepticus with coma

A type of myoclonic status epilepticus in the presence of coma.


Irregular epiphysis of the middle phalanx of the 5th toe


anti-LAD-1 antibody positivity

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


Absent epiphysis of the 1st metatarsal

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


Posttussive emesis

Vomiting following a coughing spell.


Curved middle phalanx of the 4th toe

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


ariboflavinosis

A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)


brachydactyly type A2

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


Alpha-aminoadipic aciduria

A increased concentration of alpha-aminoadipic acid in the urine.


Abnormal liver lobulation

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


Decreased QRS voltage

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


Abnormality of serum cytokine level

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


Linear earlobe crease

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


Increased proportion of unswitched memory B cells

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


Arcuate vein intraluminal thrombi

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


Hyperglutaminuria

An increased concentration of glutamine in the urine.


histiocytoid cardiomyopathy

Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.


metaphyseal chondrodysplasia

An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.


Abnormal platelet morphology

An anomaly in platelet form, ultrastructure, or intracellular organelles.


1-4 toe syndactyly

Syndactyly with fusion of toes one to four.


Absent sperm flagella

Sperm cells lacking flagella.


transient hypogammaglobulinemia of infancy

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


Hypothalamic hypometabolism in FDG PET

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


Dairy allergy

Hypersensitivity in form of an adverse immune reaction against dairy.


Intracranial dermoid cyst

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


Bowing of the long bones

A bending or abnormal curvature of a long bone.


Absent toe

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


Recurrent Neisserial infections

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


Parotid gland adenocarcinoma

An adenocarcinoma that arises from the parotid gland.


Bull's eye rash

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


Dental crowding

Changes in alignment of teeth in the dental arch


Paroxysmal dyskinesia

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


Upper limb muscle hypoplasia

Underdevelopment of muscles of the arm.


Short 5th metacarpal

Short fifth metacarpal bone.


Central nervous system axonal spheroid

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


Narrow palm

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


Impaired toe-walking ability

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


Small epiphysis of the distal phalanx of the 5th toe


Transient erythroblastopenia

A transient reduction in the number of erythroblasts in the circulation.


Gordon reflex

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


Abnormal monocyte count

An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.


Thickened aortic valve cusp

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


Ivory epiphysis of the distal phalanx of the 3rd finger

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


Osteolytic defects of the proximal phalanx of the 5th toe


Generalized aminoaciduria

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


Abnormal urine isobutyrylglycine concentration

Abnormal concentration of isobutyrylglycine in the urine.


Anti-Th/To antibody positivity

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


Enlarged cerebellum

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


Hypoplastic hippocampus

Underdevelopment of the hippocampus.


Decreased uridine diphosphate glucose-4-epimerase level in plasma

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


Osteolytic defects of the distal phalanx of the 3rd finger

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


Excessively loud speech

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


Vasculitis by anatomical site

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


Focal behavior arrest seizure

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


Reduced brain gamma-aminobutyric acid level by MRS

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


Severe hearing impairment

A severe form of hearing impairment.


Impaired ability to organize

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


Calcification of the interosseus membrane of the forearm

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


Bullet-shaped 1st metacarpal

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


Otitis media with effusion

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


Diffuse subcortical band heterotopia

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


Short lower limbs

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


Patchy sclerosis of the middle phalanx of the 4th toe

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


Flushing

Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.


Panhypogammaglobulinemia

A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.


Stomatocytosis

The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.


Sclerosis of the proximal phalanx of the thumb

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


Abnormality of neutrophil morphology

An abnormal form or size of neutrophils.


Aplasia of the ulna

Missing ulna bone associated with congenital failure of development.


EEG with constitutional variants

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


Abnormal peripheral nerve morphology by anatomical site

Abnormal morphology of a specific peripheral nerve


rhombencephalosynapsis

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


Macrodontia of permanent maxillary central incisor

Increased size of the maxillary central secondary incisor tooth.


Prolonged somatosensory evoked potentials


Increased circulating free fatty acid level

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


Thenar muscle atrophy

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


Steroid-responsive anemia

Amelioration of anemia upon treatment with a steroid medication.


cystathioninuria

Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.


Duplication of the proximal phalanx of the 5th toe

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


Cone-shaped epiphysis of the 1st metatarsal

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


Decreased CSF creatinine concentration

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


Irregular epiphysis of the distal phalanx of the 2nd toe


Partial duplication of the distal phalanx of the 5th finger

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


Arcuate vein intimal/medial myxomatous degeneration

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


Abnormal left ventricle morphology

Any structural abnormality of the left ventricle of the heart.


Abnormal CSF amino acid concentration

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


Hypoplastic male external genitalia

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


Neonatal electro-clinical seizure with behavior arrest

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


Abnormal subclavian artery morphology

Any anomaly of a subclavian artery.


Short 5th toe

Underdevelopment (hypoplasia) of the fifth toe.


Decreased prealbumin level

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


EEG with parietal focal spikes

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


Broad 5th toe

A broad appearance of the fifth toe.


macroglossia

The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)


Increased mean platelet volume

Average platelet volume above the upper limit of the normal reference interval.


Sclerosis of the distal phalanx of the 4th toe


Drug-sensitive hemolytic anemia

A form of hemolytic anemia that is triggered by ingestion of certain drugs.


Aplasia/Hypoplasia of the phalanges of the 2nd toe


Quadriceps muscle weakness

Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).


Elevated circulating dodecanoylcarnitine concentration

Increased concentration of dodecanoylcarnitine in the blood circulation.


Sclerosis of distal toe phalanx

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


congenital radioulnar synostosis

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


Severe B lymphocytopenia

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


Abnormal circulating sarcosine concentration

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


Decreased retinol-binding protein level

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


Cubitus valgus

Abnormal positioning in which the elbows are turned out.


Xanthine nephrolithiasis

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


Diffuse reticular or finely nodular infiltrations


Bilateral ductus arteriosus

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


Methioninuria

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


Conical primary incisor

An abnormal conical morphology of the primary incisor.


Alien limb phenomenon

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


Typical atrial flutter

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


Abnormal cell morphology

Any anomaly of cell structure.


autonomic nervous system neoplasm

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


Stress urinary incontinence

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


Abnormal periventricular white matter morphology

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


Chronic decreased circulating IgD

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


trimethylaminuria

A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.


Abnormal ossification of the trapezoid bone


Thick pachygyria

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


Hydroxylysinemia

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


Anti-CARP VIII antibody

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


Excessive bleeding after a venipuncture

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


Underdeveloped stem of antihelix

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


Diaphyseal cortical sclerosis

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


V-sign

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


Bullet-shaped 5th toe phalanx

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


Abnormality of the tonsils

An abnormality of the tonsils.


Digital ulcer

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


Short distal phalanx of the 3rd finger

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


Aplasia of the distal phalanx of the 4th toe


Lower-limb metaphyseal irregularity

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


Increased CSF isoleucine concentration

Abnormally increased levels of isoleucine in cerebrospinal fluid.


Abnormal esophagus morphology

A structural abnormality of the esophagus.


Fragmentation of the epiphyses of the 5th toe


Bracket epiphysis of the distal phalanx of the 4th toe


Facial telangiectasia in butterfly midface distribution

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


Chronic lung disease

According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.


Peripheral axonal atrophy

Atrophic changes of axons of the peripheral nervous system.


Hypoplasia of deltoid muscle

Underdevelopment of the deltoid muscle.


Premature fusion of the radial epiphyseal plates

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


Stiff ankle

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


Overly formal/pedantic language

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


Tapering pointed ends of distal finger phalanges

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


Inlet ventricular septal defect

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