hemifacial hypertrophy

description: Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.


Lower limb phocomelia

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

description: Phocomelia affecting only the lower limbs.


Mesomelic leg shortening

description: Shortening of the middle parts of the leg in relation to the upper and terminal segments.


Osteochondromyxoma

description: A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. OMX originate from bony cortices and have been observed in the nasal region, as well as the tibia and radius.


Agenesis of pineal gland

description: Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.


name: Bullet-shaped proximal phalanx of the 2nd toe

description: An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


name: Decreased circulating thyroxine-binding globulin concentration

description: A reduction from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.


name: Abnormal circulating fibroblast growth factor 23 concentration

description: The concentration of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal.


Reduced cerebral white matter volume

description: An abnormally low volume of the white matter of the brain.


Elevated left atrial pressure

description: An abnormal increase in magnitude of the pressure in the left atrium.


Anti-endomysial antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).


Thickened nuchal skin fold

description: A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.


Monoclonal elevation of IgG light chain

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


1-5 finger syndactyly

description: Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).


Purulent parotid gland drainage

description: Excretion of pus (purulent discharge) from the opening of the parotid duct.


Disturbance of facial expression

description: An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.


name: Elevated circulating tetradecanoylcarnitine concentration

description: Elevated circulating tetradecanoyl concentration.


renovascular hypertension

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

description: High blood pressure secondary to renal artery stenosis.


name: Complete heart block with narrow QRS complexes

description: A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.


Spindle-shaped finger

description: Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).


Generalized hypoplasia of dental enamel

description: A generalized form of developmental hypoplasia of the dental enamel.


name: Abnormal circulating vitamin E concentration

description: Concentration of vitamin E in the blood circulation outside of normal limits.


Malalignment of the great toenail

description: A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.


Visceral epithelial cell detachment

description: Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'.


Fusion of the caudate and putamen

description: Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule.


name: Abnormal male internal genitalia morphology

description: An abnormality of the male internal genitalia.


Iliac artery aneurysm

description: Abnormal outpouching or sac-like dilatation in the iliac artery.


name: Osteolytic defects of the phalanges of the 4th finger

description: Osteolytic defects of the phalanges of the 4th (ring) finger.


Reduced insulin-like factor 3 level

description: Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.


Bilioduodenal fistula

description: An abnormal connection between the gallbladder and the duodenum.


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe.


name: Increased anti-food allergen IgE antibody level

description: Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.


Reduced pancreatic beta cells

description: Reduced number of beta cells in the pancreatic islets of Langerhans.


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


Low voltage EEG

description: EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).


name: Elevated circulating guanidinoacetic acid concentration

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


name: Abnormal response to insulin tolerance test

description: An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.


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

description: A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.


name: Fragmentation of the epiphyses of the 3rd toe


schneckenbecken dysplasia

description: Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.


Childhood-onset truncal obesity

description: Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.


name: Reduced volume of central subdivision of bed nucleus of stria terminalis

description: A diminished volume of the central part of the bed nucleus of the stria terminalis.


Premature loss of permanent teeth

description: Premature loss of the permanent teeth.


Abnormal cellular phenotype

description: An anomaly of cellular morphology or physiology.


meningocele

description: A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.


Abnormal venous morphology

description: An anomaly of vein.


Increased CD4:CD8 ratio

description: An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.


name: Pseudoepiphysis of the distal phalanx of the 3rd toe


Mitral opening snap

description: Opening snap is an additional sound heard in the diastole that is related to the opening of a stenotic but mobile mitral valve. It is described as an early diastolic, high-pitched sound, which is associated with opening of the mitral and/or tricuspid valve.


Abnormal nasal dorsum morphology

description: An abnormality of the nasal dorsum, also known as the nasal ridge.


Ovarian cystadenoma

description: A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare.


Fractured manual digit bone

description: A partial or complete breakage of the manual digit bone.


Diffuse cerebral calcification

description: Generalized deposition of calcium salts within the cerebrum.


name: Focal EEG discharges with secondary generalization

description: Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.


Telangiectases of the cheeks

description: Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.


schizencephaly

description: Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.


Abnormal metaphyseal trabeculation

description: An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.


Myocardial eosinophilic infiltration

description: An increase in the number of eosinophils in myocardial tissue.


Reduced social smiling

description: Reduced production of smiles during engagement with an interactive parent, caregiver, or peer.


Wrist ganglion

description: A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.


Triphalangeal hallux

description: A hallux (big toe) with three phalanges in a single, proximo-distal axis.


Syntelencephaly

description: Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions.


Renal hypoplasia/aplasia

description: Absence or underdevelopment of the kidney.


Aplasia of the inner ear

description: Absence of the inner ear due to a developmental defect.


name: Irregular epiphysis of the proximal phalanx of the 3rd finger

description: Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.


name: Thickening of the lateral border of the scapula


name: Bone-in-a-bone appearance of carpal bones

description: The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.


pineocytoma

description: Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.


name: Elevated circulating long chain fatty acid concentration

description: Increased concentration of long-chain fatty acids in the blood circulation.


name: Bullet-shaped distal phalanx of the 5th toe

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


Renal arteriole medial hypertrophy

description: Increased thickness of middle layer of the arterioles of the kidney.


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


Abnormal temper tantrums

description: Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums.


Indifference to social norms

description: Failure to follow social norms (shared standards of acceptable behavior) even though one has awareness of these norms and the ability to follow them. This is characterized by an indifference to the consequences of breaking social norms.


Short attention span

description: Reduced attention span characterized by distractibility and impulsivity.


name: Patchy sclerosis of middle phalanx of finger

description: Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.


melanocytic nevus

description: A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.


Short humerus

description: Underdevelopment of the humerus.


name: Contracture of the metacarpophalangeal joint of the 4th finger

description: Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.


Interrupted aortic arch type A

description: Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.


name: Abnormal proportion of unswitched memory B cells

description: A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.


name: Abnormal circulating calcium-phosphate regulating hormone concentration

description: Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.


congenital genu recurvatum

description: An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.


Genital neoplasm

description: A tumor (abnormal growth of tissue) of the genital system.


Pseudoepiphysis of the 3rd metacarpal

description: The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


name: Decreased circulating ACTH concentration

description: The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.


Short term memory impairment

description: A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).


Psychic epileptic aura

description: Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.


name: isolated growth hormone deficiency type IA

description: An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.


Subpleural honeycombing

description: So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.


Uplifted earlobe

description: An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.


Monotonic speech

description: A speech pattern characterized by an abnormal lack of tone in the voice.


name: Reduced circulating cortisol-binding globulin concentration

description: The concentration of cortisol-binding globulin in the blood circulation is below the lower limit of normal.


name: Decreased proportion of naive CD8 T cells

description: An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.


Episodic quadriplegia

description: Intermittent episodes of paralysis of all four limbs.


name: Arcuate artery intima/media arteriosclerosis

description: Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina.


Abnormal buccal mucosa morphology

description: An abnormality of a buccal mucosa.


name: Grade IV preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.


name: Hypertension resistant to conventional therapy

description: Resistant hypertension is defined as above-goal elevated blood pressure in a patient despite the concurrent use of 3 antihypertensive drug classes, commonly including a long-acting calcium channel blocker, a blocker of the renin-angiotensin system (angiotensin-converting enzyme inhibitor or angiotensin receptor blocker), and a diuretic.


Recurrent hypoglycemia

description: Recurrent episodes of decreased concentration of glucose in the blood.


name: Osteolytic defects of the proximal phalanx of the hallux


Hypotriglyceridemia

description: An decrease in the level of triglycerides in the blood.


focal hand dystonia

description: A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.


name: Aplasia of the proximal phalanx of the 2nd finger

description: Absence of the proximal phalanx of the 2nd finger.


Anti-transglutaminase 6 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6.


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe.


name: Abnormal posterior cranial fossa morphology

description: An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.


Decreased Achilles reflex

description: Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.


Dysplastic iliac wing

description: A general term that describes a congenital defect in the iliac wing resulting from abnormal development.


Elevated dermal desmosine content

description: An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.


Tented philtrum

description: Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.


name: Plantar crease between first and second toes

description: The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.


name: Double inlet to single ventricle with two atrioventricular valves


name: Focal sensory seizure with vestibular features

description: A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.


name: Aplasia/Hypoplasia involving the shoulder musculature

description: Absence or underdevelopment of the muscles of the shoulder.


Vivid hallucination

description: Perceptual experiences that are vivid, intense, and sensory in nature occur in the absence of corresponding stimuli from the external environment.


Lumbar hemivertebrae

description: Absence of one half of the vertebral body in the lumbar spine.


Prolinuria

description: Level of proline in the urine anove the upper limit of normal.


Severe postnatal growth retardation

description: Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.


Small toe

description: Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.


Short middle phalanx of the 2nd finger

description: Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.


Nonossified fifth metatarsal

description: The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.


Elevated urinary S-sulfocysteine level

description: Level of S-sulfocysteine high in urine above the upper limit of normal.


Hyperoxemia

description: An abnormally high level of blood oxygen.


Abnormal CSF ornithine concentration

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


Proximal muscle weakness in upper limbs

description: A lack of strength of the proximal muscles of the arms.


name: Triangular shaped distal phalanx of the hallux


Radial bowing

description: A bending or abnormal curvature of the radius.


Abnormal bone ossification

description: Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.


name: Cortical radial artery intima/media multilamellation

description: Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers.


Absent keratohyalin granules

description: Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.


Lafora bodies

description: An intraneuronal inclusion body composed of acid mucopolysaccharides.


name: Uric acid urolithiasis independent of gout


name: Fractured proximal phalanx of manual digit 1

description: A partial or complete breakage of the proximal phalanx of manual digit 1.


Gastric pseudomass

description: At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass.


Ectopic accessory finger-like appendage

description: In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).


Perilobar nephrogenic rest

description: A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.


Abnormal terminal:vellus ratio

description: A deviation from the normal proportion of terminal to vellus hairs.


Abnormality of vitamin metabolism

description: An anomaly in the metabolism of a vitamin.


EEG with periodic abnormalities

description: Periodically recurring abnormalities in the EEG.


Cerebral hypoplasia

description: Underdevelopment of the cerebrum.


Perianal abscess

description: The presence of an abscess located around the anus.


name: Sclerosis of the proximal phalanx of the 4th finger


Early onset absence seizures

description: Typical absence seizures starting before the age of 4 years.


description: Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.


Perilobar nephroblastomatosis

description: Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).


name: Abnormal circulating purine concentration

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


Radioulnar subluxation

description: Partial dislocation of the radioulnar joint.


Cephalohematoma

description: Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.


Mesangial microfibril deposition

description: Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins.


Decreased adipose tissue around neck

description: Reduced amount of adipose tissue in the region of the neck.


dentin dysplasia type I

description: Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.


Cerebral hyaline bodies

description: Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.


Abnormal CSF protein concentration

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


Abnormal germ cell morphology

description: Any structural anomaly of a reproductive cell.


Patchy palmoplantar hyperkeratosis

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


name: Abnormal circulating creatinine concentration

description: An abnormal concentration of creatinine in the blood.


Intracranial neurenteric cyst

description: A neurenteric cyst located within the skull.


Irregular epiphyses of the 2nd finger

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


Toe pain

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


Adrenal gland agenesis

description: Absent development of the adrenal gland.


Squared superior portion of helix

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


Nasal mucosa telangiectasia

description: Telangiectasia of the nasal mucosa.


Type V atherosclerotic lesion

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


name: Anti-alanyl-tRNA synthetase antibody positivity

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


triatrial heart

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


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


cranial nerve palsy

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


name: Contracture of the distal interphalangeal joint of the 4th toe

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


EEG with continuous slow activity

description: EEG showing diffuse slowing without interruption.


Prominent digit pad

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


Abnormal pancreatic duct morphology

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


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

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


Trichoschisis

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


name: Prominent proximal interphalangeal joints


Gastrostomy tube feeding in infancy

description: Feeding problem necessitating gastrostomy tube feeding.


name: Enlarged epiphyses of the phalanges of the hand

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


name: EEG with photoparoxysmal response grade II

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


Abnormal urinary organic compound level

description: The amount of an organic compound in the urine, normalized for urine concentration, is outside the limits of normal. An organic compound is defined here as a chemical compound that contains a carbon-hydrogen or carbon-carbon bond, although some other definitions exist. Examples of organic compounds includea alkanes, alkenes, alkynes, aromatic compounds, alcohols, ketones, aldehydes, carboxylic acids, and esters.


Tubulointerstitial fibrosis

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


Acral blistering

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


name: Abnormal proportion of CD8-positive T cells

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


name: Partial right sided absence of pericardium

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


Abnormal limb epiphysis morphology

description: An anomaly of one or more epiphyses of a limb.


1-4 finger syndactyly

description: Syndactyly with fusion of fingers one to four.


Spinal epidural abscess

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


name: Aplasia of the distal phalanx of the hallux


name: Focal aware emotional seizure with agitation

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


name: Absent bronchoalveolar dimeric surfactant-protein B

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


name: Increased circulating isovaleric acid concentration

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


Clouston syndrome

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


Gallbladder wall thickening

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


name: Sclerosis of the distal phalanx of the 3rd toe

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


Abnormal uterus morphology

description: Any anomaly of the structure of the uterus


name: Abnormal circulating albumin concentration

description: Deviation from normal concentration of albumin in the blood.


Splenogonadal fusion

description: Joining of the spleen and a gonad during embryological development.


name: Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia

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


Exstrophy

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


Fixation-off epileptiform discharges

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


Ivory epiphyses of the 4th finger

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


Abnormal hypnopompia

description: Abnormal transition of consciousness from sleeping to wakefulness.


name: Partial duplication of the proximal phalanx of the 3rd toe

description: Partial duplication of proximal phalanx of third toe.


Anti-H4 antibody positivity

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


name: Fractured epiphysis of fifth metacarpal bone

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


Abnormality of neuronal migration

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


name: Triangular shaped middle phalanx of the 3rd finger

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


Reduced total lung capacity

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


Hypoglutaminemia

description: Decreased amount of glutamine in the blood.


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


Humeral lytic defects

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


Complete bilateral cleft lip

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


Cerebral ventricular adhesions

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


Spontaneous cerebrospinal fluid leak

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


Aphalangy of the hands

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


Underfolded superior helices

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


Abnormal coccyx morphology

description: Any structural abnormality of the coccyx.


name: Increased CSF L-alloisoleucine concentration

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


Anti-MDA5 antibody positivity

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


eosinophilic cryptitis

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


Abnormal angiostatin level

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


Mild conductive hearing impairment

description: A mild form of conductive hearing impairment.


Abnormal HDL3a concentration

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


Platelet antibody positive

description: The presence in the serum of autoantibodies directed against thrombocytes.


name: Abnormal blood inorganic cation concentration

description: An abnormality of divalent inorganic cation homeostasis.


bilirubin encephalopathy

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


Thick oral frenulum

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


aorto-ventricular tunnel

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


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


Addictive video game use

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


central nervous system cyst

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


germinoma

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


Anti-smooth muscle antibody positivity

description: The presence in serum of antibodies against smooth muscle.


name: Abnormal cardiomyocyte plakoglobin staining

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


Mirror image hand polydactyly

description: Mirror image duplication of digits affecting the hands only.


parietal encephalocele

description: An encephalocele located between bregma and lambda.


Fractured cuboid bone

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


name: Complete diaphragmatic absence of pericardium

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


Cerebellar agenesis

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


Abnormal nephron morphology

description: A structural anomaly of the nephron.


name: Pseudoepiphyses of the middle phalanges of the hand

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


name: Elevated urinary 3,4-Dihydroxybutyric acid level

description: The amount of 3,4-Dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Abnormal immunoglobulin level in body fluid

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


name: Elevated circulating lipoprotein(a) concentration

description: The concentration of lipoprotein(a) in the blood circulation is above the upper limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667).


Unilateral vocal cord paralysis

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


Cortical tubers

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


name: Dysharmonic maturation of the hand bones

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


Abnormal ST segment

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


Abnormal blood cation concentration

description: An abnormality of cation homeostasis.


Shoulder dislocation

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


Disseminated molluscum contagiosum

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


Cognitive distortion

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


name: Complete duplication of distal phalanx of the thumb

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


Pulmonary amyloidosis

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


Curved middle phalanx of the 3rd toe

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


Prominent ear helix

description: Abnormally prominent ear helix.


Monoclonal elevation of IgG

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


Upturned corners of mouth

description: Oral commissures positioned superior to the midline labial fissure.


Abnormal antihelix morphology

description: An abnormality of the antihelix.


name: Triangular epiphysis of the distal phalanx of the hallux


Hypnagogic sleep paralysis

description: Sleep paralysis that occurs when falling asleep.


Decreased serum leptin

description: A decreased concentration of leptin in the blood.


Lichenification

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


Delayed fine motor development

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


Osteolysis involving tarsal bones

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


Enlarged epiphyses of the 2nd finger

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


name: Renal arteriole intima/media liquefactive necrosis

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


name: Elevated circulating C5 acylcarnitine concentration

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


Anti-21-hydroxylase antibody positivity

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


name: Abnormal left ventricular ejection fraction

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


Ineffective esophageal peristalsis

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


Abnormal talus morphology

description: An abnormality of the talus.


Abnormal blood sodium concentration

description: An abnormal concentration of sodium.


Moderate oligozoospermia

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


name: Focal sensory seizure with somatosensory features

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


Anti-Amphiphysin antibody

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


Dysgenesis of the cerebellar vermis

description: Defective development of the vermis of cerebellum.


name: Stippling of the epiphyses of the 2nd toe

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


Constitutional symptom

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


Reduced euglobulin clot lysis time

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


Delayed recoil upon stretching of skin

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


name: Reduced criculating stearoylcarnitine concentration

description: The concentration of stearoylcarnitine (C18:0) in the blood circulation is below the lower limit of normal.


name: Increased circulating inhibin B concentration

description: The concentration of inhibin B in the blood circulation is above the upper limit of normal.


name: Contracture of the proximal interphalangeal joint of the 4th toe

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


Lumbar hyperlordosis

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


Fractured metatarsal bone of digit 1

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


name: Decreased level of 1,5 anhydroglucitol in serum

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


Abnormal PR interval

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


hyperhidrosis palmaris ET plantaris

description: An abnormally increased perspiration on palms and soles.


verrucous nevus

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


Ulnar radial head dislocation

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


Increased anti-egg IgE antibody level

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


name: Symmetric spinal nerve root neurofibromas

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


Morgagni-Stewart-Morel syndrome

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


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


name: Osteolytic defects of the middle phalanx of the 4th finger

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


Pigment incontinence

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


name: Duplication of the proximal phalanx of hand

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


Periorbital hyperpigmentation

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


Abnormal soft palate morphology

description: An abnormality of the soft palate.


Battle sign

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


CSF lymphocytic pleiocytosis

description: An increased lymphocyte count in the cerebrospinal fluid.


Abnormal biliary tract physiology

description: A functional abnormality of the biliary tree.


name: Enlarged epiphysis of the middle phalanx of the 5th finger

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


name: Enlarged epiphysis of the proximal phalanx of the 2nd toe


Intra-oral hyperpigmentation

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


name: mitochondrial trifunctional protein deficiency

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


Transient decreased circulating IgG1

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


Third cranial nerve thickening

description: Increase in diameter of the third cranial nerve (oculomotor nerve). This feature can be observed by magnetic resonance imaging and may be accompanied by contrast enhancement.


name: Elevated circulating oxalate concentration

description: The concentration of oxalate in the blood circulation is above the upper limit of normal.


name: Partial duplication of the proximal phalanges of the hand

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


Neoplasm of the nail

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


geographic tongue

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


Fifth metacarpal with ulnar notch

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


description: The concentration of monolysocardiolipin related to that of cardiolipin is above the upper limit of normal. This is a functional assay that can be performed from a blood spot to diagnose Barth syndrome (OMIM:302060).


angiolipoma

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


Aortic root aneurysm

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


hypophosphatemic rickets

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


Aggression towards others

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


Abnormal PR segment

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


name: Abnormal insulin like growth factor binding protein acid labile subunit level

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


name: Partial duplication of the phalanges of the 5th finger

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


Fetal chylothorax

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


name: Small epiphysis of the proximal phalanx of the 3rd toe


Orbital rhabdomyosarcoma

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


ovarian fibroma

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


Symmetric polyarthritis

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


Abnormal pineal volume

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


name: Subepithelial glomerular basement membrane electron dense deposits

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


name: Partial duplication of the middle phalanges of the hand

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


Umbilicated nodule

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


Jaw contracture

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


Abnormal urine metabolite level

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


Micronodular cirrhosis

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


Abnormal labia majora morphology

description: An anomaly of the outer labia.


Testicular lipomatosis

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


name: Elevated urine N-acetylaspartic acid level

description: The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry.


name: Increased anti-seafood IgE antibody level

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


Gastric xanthoma

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


name: Elevated circulating palmitoylcarnitine concentration

description: Abnormally increased concentration of palmitoylcarnitine in the blood circulation.


Increased length of the tibia

description: An abnormal increase in the length of the tibia.


name: Hypoplasia of mandible relative to maxilla

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


name: Enlarged epiphyses of the distal phalanges of the hand


Aplasia of the parotid gland

description: Absence of the parotid gland.


Abnormality of the incisor

description: An abnormality of the Incisor tooth.


Abnormal heart rate variability

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


penoscrotal transposition

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


name: Osteolytic defects of the middle phalanx of the 4th toe


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


name: Focal aware cognitive seizure with left-right confusion

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


Abnormal renal echogenicity

description: Anomalous echogenicity of the kidney on ultrasound examination.


Abnormal thought pattern

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


Elevated aldosterone:renin ratio

description: The ratio of aldosterone concentration to renin concentration is above the upper limit of normal. If aldosterone is expressed in ng/dl and plasma renin activity is expressed as ng/ml/hr, then values above 20 with aldosterone level above 15 are considered indicative of primary aldosteronism.


name: Diffuse ribbon-like subcortical heterotopia

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


Furcate cord insertion

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


Delusions of infestation

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


Flexural lichenification

description: Lichenification affecting primarily flexural areas of the skin.


Dysplastic aortic valve

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


Multiple cutaneous leiomyomas

description: The presence of multiple leiomyomas of the skin.


name: Nonfunctional or atypical use of objects in play

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


Moderately short stature

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


name: Elevated urinary 3-hydroxykynurenine level

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


Isolation of the left subclavian artery

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


name: Abnormality of the musculature of the upper arm


Adrenocorticotropin receptor defect

description: Adrenal insufficiency secondary to a defect in the ACTH receptor.


Abnormal breast morphology

description: Any anomaly of the structure of the breast.


Atypical scarring of skin

description: Atypically scarred skin .


Lobulated tongue

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


name: Increased level of platelet-activating factor


name: Elevated circulating dihydroxyphenylacetic acid concentration

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


Lipedema

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


Infrequent social engagement with peers

description: Social engagement refers to the interaction of an individual with others in a contextually appropriate manner. This term refers to a lower than typical number of attempts to engage peers in conversation, play, or other interactions.


EEG with spike-wave complexes

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


name: Radial deviation of thumb terminal phalanx


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


Lip cyanosis

description: Bluish discoloration of the lips.


myoglobinuria, recurrent

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


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


name: Anti-Kelch like protein 11 antibody positivity

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


pelvic lipomatosis

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


name: Bullet-shaped distal phalanx of the 3rd finger

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


Localized area of pendulous skin

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


Positive blood infectious agent test

description: Any kind of test for an infectious agent in the blood circulation positive.


Absence of CD8-positive T cells

description: Lack of detectible CD8-positive T cells


Abnormal endocardium morphology

description: An abnormality of the endocardium.


name: Focal impaired awareness cognitive seizure with neglect

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


Short fetal femur length

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


Pectus excavatum of inferior sternum

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


name: Unilateral hypoplasia of pectoralis major muscle

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


Abnormal capillary morphology

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


Elevated circulating tenascin-C level

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


Severe conductive hearing impairment

description: A severe form of conductive hearing impairment.


Abnormal cerebellar cortex morphology

description: Any structural anomaly of the cortex of the cerebellum.


name: Liver kidney microsome type 1 antibody positivity

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


conductive hearing loss disorder

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


Cavitation of the basal ganglia

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


Testicular mesothelioma

description: A Malignant mesothelioma of the testis.


Intratubular hyaline casts

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


Abnormal blood zinc concentration

description: An abnormality of zinc ion homeostasis.


name: Abnormal circulating proteinogenic amino acid derivative concentration

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


Hyperthreoninuria

description: An increased concentration of threonine in the urine.


Cone-shaped epiphyses of the 3rd finger

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


Copper accumulation in brain

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


name: Head impulse test has corrective saccade

description: In a patient with nystagmus, The examiner briskly rotates the head of the patient while having the patient fixate on a target. A corrective saccade indicates the patient's eye will move in one direction and quickly return back to neutral position.


name: Right ventricular regional wall motion abnormality

description: The occurrence of abnormal or absent contractility of a region of the heart muscle of the right ventricule. Conventional assessment of RWMA is based on visual interpretation of endocardial excursion and myocardial thickening from the echocardiogram videos.


Abnormal macroscopic urine appearance

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


Fractured interphalangeal joint

description: A partial or complete breakage of the interphalangeal joint.


acral lentiginous melanoma

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


name: Unilateral conductive hearing impairment


name: Bullet-shaped proximal phalanx of the 2nd finger

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


Osseous finger syndactyly

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


name: Increased circulating troponin I concentration

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


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

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


name: Abnormality of the proximal phalanx of the 2nd finger


Short middle phalanx of the 3rd finger

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


Webbed neck

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


Descending aortic dissection

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


Hemangioma of the lip

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


Postauricular pit

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


Intralamellar aortic medial fibrosis

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


dental enamel hypoplasia

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


name: Rudimentary postaxial polydactyly of hands


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

description: Partial duplication of proximal phalanx of second toe.


Clinodactyly of the 3rd toe

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


Flexion contracture of the 2nd toe

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


name: Incomplete partition of the cochlea type II

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


Joint contracture

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


name: familial thoracic aortic aneurysm and aortic dissection

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


name: Decreased CSF 5-hydroxyindolacetic acid concentration

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


Thickened superior cerebellar peduncle

description: Increased width of the superior cerebellar peduncle.


Absent ethmoidal sinuses

description: Lack (aplasia) of the ethmoidal sinus.


Glomerular fibrin thrombus

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


Abnormality of the wrist

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


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

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


Abnormal vestibular saccule morphology

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


Low hanging columella

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


Yellow skin plaque

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


Lymph node xanthomatosis

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


Hypotyrosinemia

description: An decreased concentration of tyrosine in the blood.


Short proximal phalanx of thumb

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


Diffuse cerebellar atrophy

description: Diffuse unlocalised atrophy affecting the cerebellum.


Abnormal middle ear morphology

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


Focal cortical dysplasia type III

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


EEG with spike-wave complexes (>3.5 Hz)

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


Congenital absence of portal vein

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


polydactyly of a triphalangeal thumb

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


name: Contracture of the proximal interphalangeal joint of the 2nd toe

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


Anti-hexokinase-1 antibody positivity

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


Focal aware verbal automatism seizure

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


name: Impaired renal tubular reabsorption of chloride

description: Any impairment of reabsorption of chloride by the kidney.


Fractured nose

description: A partial or complete breakage of the nose.


Hepatic polyglucosan accumulation

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


Abnormality of circulating fibrinogen

description: An abnormality of the level of activity of circulating fibrinogen.


Hip dislocation

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


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


name: Posterior predominant thick cortex pachygyria

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


Pleural cobblestoning

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


Fractured phalanx of manus

description: A partial or complete breakage of the phalanx of manus.


Increased T3/T4 ratio

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


Oral-pharyngeal dysphagia

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


Type II cryptotia

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


Periventricular pseudocyst

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


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

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


preeclampsia/eclampsia 1

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


Abnormal dentate nucleus morphology

description: An abnormality of the dentate nucleus.


name: Abnormal circulating aromatic amino acid concentration

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


Pulmonary artery dilatation

description: An abnormal widening of the diameter of the pulmonary artery.


Abnormal labia morphology

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


EEG with multifocal slow activity

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


Duodenal arteriovenous malformation

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


Hypoechoic breast mass

description: A breast mass visualized by sonography that displays a lower than normal echo signal (and this that appears dark gray in the typical ultrasound image).


name: Increased urine isobutyrylglycine concentration

description: Elevated concentration of isobutyrylglycine in the urine.


lentigo maligna melanoma

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


name: Complete duplication of the middle phalanx of the 5th finger

description: Complete duplication of the fifth middle phalanx of hand.


name: Interlobular vein intima/media liquefactive necrosis

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


Absent nasal septal cartilage

description: Lack of the cartilage of the nasal septum.


name: Abnormal mandibular symphysis morphology

description: A structural abnormality of a mandibular symphysis.


Linear atelectasis

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


Infantile spasms

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


EEG with photoparoxysmal response

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


Crypt hyperplasia

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


name: Bracket epiphysis of the distal phalanx of the hallux

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


Fractured navicular bone of pes

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


Protrusio acetabuli

description: Intrapelvic bulging of the medial acetabular wall.


name: Abnormal circulating thromboxane concentration

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


Esophageal mass

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


name: Abnormal intrahepatic bile duct morphology

description: An abnormality of the intrahepatic bile duct.


name: solitary median maxillary central incisor syndrome

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


Increased radioactive iodine uptake

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


paroxysmal dystonia

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


secretory component deficiency

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


name: Abnormal morphology of phalanx of the 2nd toe

description: An anomaly of a phalanx of second toe.


name: Abnormal circulating pyruvate family amino acid concentration

description: An abnormality of a pyruvate family amino acid metabolic process.


name: Focal aware cognitive seizure with dissociation

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


Spinal cord calcifications

description: The presence of calcium deposition in the spinal cord.


Unilateral ulnar hypoplasia

description: Underdevelopment of the ulna on only one side.


Accelerated atherosclerosis

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


In situ pulmonary artery thrombosis

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


Central Y-shaped metacarpal

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


Frontal polymicrogyria

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


Extrahepatic bile duct fibrosis

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


Painful subcutaneous lipomas

description: The presence of multiple subcutaneous lipoma that cause pain.


Abnormal vascular physiology

description: Abnormality of vascular function.


Disorganized speech or communication

description: An abnormal or disorganized way of communicating that appears to be the result of disorganized thought.


Abnormal toe morphology

description: An anomaly of a toe.


name: Focal impaired awareness cognitive seizure with dyscalculia/acalculia

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


name: Abnormal circulating organic amino compound concentration

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


Fused cervical vertebrae

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


description: The presence of autoantibodies (immunoglobulins) in the serum that display a high degree of specificity for idiopathic inflammatory myopathy (myositis-specific autoantibodies (MSAs)). MSAs are clinically useful biomarkers to help the diagnosis of polymyositis/dermatomyositis (PM/DM). Many of these are also associated with a unique clinical subset of PM/DM, making them useful in predicting and monitoring certain clinical manifestations.


head and neck paraganglioma

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


name: Irregular epiphysis of the proximal phalanx of the hallux


Abnormality of the vertebral column

description: Any abnormality of the vertebral column.


name: Arcuate artery intima/media granulomatous arteriitis

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


Regional right ventricular hypokinesis

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


Glomerular obsolescence

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


Small epiphyses of the 5th finger

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


name: Impairment of activities of daily living

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


name: Abnormal respiratory motile cilium physiology

description: Any functional anomaly of the respiratory motile cilia.


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


Apical hypertrophic cardiomyopathy

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


name: Abnormal metatarsal epiphysis morphology

description: Any abnormality of a metatarsal bone epiphysis.


Posterior mediastinal mass

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


name: Elevated CSF cystathionine concentration

description: Concentration of cystathionine in the cerebrospinal fluid (CSF) above the upper limit of normal.


Aplasia of the vestibule

description: Complete absence of the vestibule of the inner ear.


Frontal release signs

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


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

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


Chess-pawn distal phalanges

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


Arachnoid granulation

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


name: Interlobular vein intima/media granulomatous venulitis

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


Anti-ARHGAP26 antibody

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


Dural ectasia

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


Long clavicles

description: Increased length of the clavicles.


Intracranial epidermoid cyst

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


Chronic oral candidiasis

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


name: Insufficient response to short acting pulmonary vasodilator

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