Median pseudocleft lip

description: A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.


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

description: Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.


Hypoplastic labia majora

description: Undergrowth of the outer labia.


Urethrovesical occlusion

description: Blockage of the flow of urine from the bladder into the urethra.


Cerebral cortical microinfarct

description: An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions.


Excessive guilt

description: Guilt that is excessive in that it is based on an incorrect judgment (that one is responsible for a negative outcome) or is out of proportion to the committed offense.


thyroid hemiagenesis

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

description: Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


Uhl anomaly

description: Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.


Abnormal lymphocyte physiology

description: Any anomaly of lymphocyte function.


name: Hepatic lipid-laden macrophage infiltration

description: Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the liver.


name: Focal substantia nigra T2 hyperintensity

description: Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.


Longitudinal vaginal septum

description: The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.


Ureteral dysgenesis

description: A developmental anomaly of the ureter.


name: Abnormal urine alpha-ketoglutarate concentration

description: A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.


Recurrent paroxysmal headache

description: Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.


Focal aware bilateral motor seizure

description: A type of focal bilateral motor seizure during which awareness is fully retained throughout.


name: Abnormal glossopharyngeal nerve morphology

description: Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).


congenital generalized lipodystrophy

description: An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.


Fractured skull

description: A partial or complete breakage of the skull.


Esophageal web

description: Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).


name: Abnormal arcuate artery lumen morphology

description: Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.


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


Limited head nodding or shaking

description: Absence or reduction in the use of head nodding to indicate "yes" or head shaking to indicate "no".


name: central nervous system infectious disorder

description: An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.


Athetosis

description: A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.


Abnormal pulmonary lymphatics

description: An abnormality of the pulmonary lymphatic chain.


palsy

description: A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)


Periauricular skin pits

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


Non-restorative sleep

description: Perception of feeling unrefreshed after sleep.


Small acrosomal area

description: Reduction in size of the acrosome below the lower limit of normal. The acrosome is a unique membranous organelle located over the anterior part of the sperm nucleus. According to the World Health Organization criteria, the acrosome must be clearly visible, comprising approximately 40-70 percent of the sperm head.


Verrucous cell carcinoma of the tongue

description: A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.


Truncal obesity

description: Obesity located preferentially in the trunk of the body as opposed to the extremities.


name: Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level

description: The amount of 2,3-dihydroxy-2-methylbutanoic acidin the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormality of molar

description: An abnormality of molar tooth.


Plantar flexion contracture

description: A type of contracture in which the plantar flexion muscles are contracted.


Fallopian tube torsion

description: A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.


Pulmonary hypertensive crisis

description: Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output.


Atypical absence status epilepticus

description: Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.


allesthesia

description: A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.


Muscular ventricular septal defect

description: The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.


thrombophilia due to thrombin defect

description: The formation of a blood clot (thrombus) in the lumen of a vein.


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


Abnormal uterine cervix morphology

description: An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.


Abnormality of primary teeth

description: Any abnormality of the primary tooth.


Fast-growing nails

description: Nails whose growth is quicker than normal.


Porcelain gallbladder

description: Porcelain gallbladder refers to the condition in which the inner gallbladder wall is encrusted with calcium. The wall becomes brittle, hard, and often takes on a bluish hue. It is usually found incidentally on plain abdominal x-rays or other imaging because most patients are asymptomatic.


Abnormal cerebral vein morphology

description: An anomaly of cerebral veins.


Abnormal exteroceptive sensation

description: A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.


name: Osteolytic defects of the middle phalanx of the 2nd toe


Abnormality of venous physiology

description: An anomaly of venous function.


Abnormal spermatogenesis

description: Incomplete maturation or aberrant formation of the male gametes.


thyroid crisis

description: Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone.


Positional foot deformity

description: A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.


Renal arteriole intima/media hyalinosis

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis.


deep seated dermatophytosis

description: A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.


Parosmia

description: Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli.


name: Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Focal aware emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.


name: Renal arteriole foam cell endoarterial hypercellularity

description: A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.


Abnormal number of incisors

description: The presence of an altered number of the incisor teeth.


Calcium oxalate nephrolithiasis

description: The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.


Developmental stagnation

description: A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.


Hot cross bun sign

description: A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).


name: Abnormality of the epiphysis of the distal phalanx of the hallux


Brittle hair

description: Fragile, easily breakable hair, i.e., with reduced tensile strength.


name: Elevated circulating 3-hydroxyisovalerylcarnitine concentration

description: Concentration of 3-hydroxyisovalerylcarnitine in the blood circulation above the upper limit of normal.


name: Aplasia/hypoplasia of proximal toe phalanx

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the toe.


neurofibrosarcoma

description: A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)


Diminished ability to concentrate

description: Being unable to focus one's attention or mental effort on a particular object or activity.


Dandy-Walker syndrome

description: Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.


name: Increased level of myristic acid in serum

description: An increase in the level of myristic acid in the serum.


name: Focal aware head nodding automatism seizure

description: A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.


Anorgasmia

description: Inability of individual to reach orgasm.


Aplastic/hypoplastic toenail

description: Absence or underdevelopment of the toenail.


name: Confluent hyperintensity of cerebral white matter on MRI

description: Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.


Hepatic foam cells

description: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver.


name: Abnormality of the distal phalanges of the toes


endometritis

description: An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding.


Abnormal cardiac catheterization

description: Abnormal results from the diagnostic tests resulting from cardiac catheterization.


Cerebellar granular layer atrophy

description: Atrophy of the cerebellum affecting primarily the granular cell layer.


Absent proximal phalanx of the 3rd toe

description: Absence of proximal phalanx of third toe, owing to a congenital defect of development.


name: Focal impaired awareness autonomic seizure with piloerection

description: A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.


Fingerpad telangiectases

description: Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.


name: Anomalous origin of right coronary artery from the pulmonary artery

description: Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.


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


name: Agenesis of permanent mandibular central incisor

description: Agenesis of lower secondary incisor.


corpus callosum, agenesis of

description: A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.


Enlarged peripheral nerve

description: Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.


Expressive language delay

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


Honeycomb lung

description: Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care.


Hypoplasia of right ventricle

description: Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.


Intellectual disability, severe

description: Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.


neurofibroma

description: An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.


flatfoot

description: An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground.


holoprosencephaly 1

description: The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.


Increased intestinal transit time

description: An increase in the length of time required for food to pass through the intestines.


name: Symphalangism affecting the phalanges of the 3rd toe


Absent metatarsal bone

description: A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.


galactorrhea

description: Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia.


name: Increased aromatic amino acid level in urine

description: An elevated level of an aromatic amino acid in the urine.


tricuspid valve prolapse

description: Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus.


name: Decreased circulating 17-hydroxyprogesterone concentration

description: Concentration of 17-hydroxyprogesterone in the blood circulation below the lower limit of normal.


Cor triatrium sinister

description: A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.


eunuchism

description: The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones.


Prolonged QRS complex

description: Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.


status epilepticus

description: A life-threatening situation in which the brain is in a continuous state of seizure.


Partial hyposmia

description: Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).


Olfactory sensory seeking

description: Pursuit of specific scents, smells, or fragrances that is abnormal in intensity and/or frequency.


Diffuse cerebral atrophy

description: Diffuse unlocalised atrophy affecting the cerebrum.


Abnormal facial artery morphology

description: Any structural abnormality of a facial artery, one of the branches of the external carotid artery.


Renal tubular epithelial lipofuscin

description: Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.


isolated Pierre-Robin syndrome

description: Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.


Impaired temperature sensation

description: A reduced ability to discriminate between different temperatures.


name: Delayed scintigraphic gallbladder filling

description: Hepatobiliary scintigraphy is a nuclear imaging technique that permits evaluation of the liver and biliary system for acute and chronic cholecystitis, biliary atresia, biliary obstruction, and post-surgical biliary leak. With this investigation, a radiotracer is administered intravenously, bound to albumin, transported to the liver, and excreted into the biliary system. This term refers to a longer than normal time for the radiotracer to be visualized in the gallbladder. This finding may be a sign of chronic gallbladder disease or partial obstruction of the common bile duct.


Elevated urinary prostaglandin E2 level

description: An increased amount of prostaglandin E2 in the urine.


Dystrophic fingernails

description: The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.


Abnormal duodenum morphology

description: An abnormality of the duodenum, i.e., the first section of the small intestine.


Abnormal pleura morphology

description: An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.


Elevated CSF cholestanol concentration

description: The concentration of cholestanol in the cerebrospinal fluid (CSF) is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.


name: Reduced left ventricular endsystolic diameter

description: A lower than normal left ventricular endsystolic diameter.


Partial albinism

description: Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.


5-oxoprolinase deficiency

description: 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.


Frontal cutaneous lipoma

description: Presence of a cutaneous lipoma on the forehead.


Bifid clitoris

description: Two clitorides located side by side.


name: Fatiguable weakness of proximal limb muscles

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


name: Abnormal left ventricular endsystolic diameter

description: A deviation from the normal range of the left ventricular endsystolic diameter.


Hepatolithiasis

description: The presence of gallstones within the intrahepatic bile ducts proximal to the right and left hepatic ducts.


Patulous urethra

description: Urethra more open or expanded than normal.


Embryonal renal neoplasm

description: The presence of an embryonal neoplasm of the kidney that primarily affects children.


name: Irregular epiphysis of the 1st metatarsal


Posterior pituitary agenesis

description: Absence of the neurohypophysis owing to a developmental defect.


Hypoplastic tricuspid valve

description: Congenital defect characterized by underdevelopment of the tricuspid valve.


Agenesis of molar

description: Agenesis of molar tooth.


name: Synostosis of the proximal phalanx of the hallux with the 1st metatarsal


2-hydroxyglutarate aciduria

description: The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Early progressive calcific cardiac valvular disease


holoprosencephaly

description: Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.


Preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a premature infant.


Hypermagnesiuria

description: An increased concentration of magnesium the urine.


Atrophic pituitary gland

description: Partial or complete wasting (loss) of the pituitary gland.


Renal interstitial calcium oxalate

description: The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.


Music-induced seizure

description: Seizure precipitated by listening to music or other complex sounds.


Thinned small intestinal mucosa

description: Abrnormal reduction in the height of the mucosa of the small intestine. The mucosa is arranged in regular circular folds (the circular valves of Kerckrin), the mucosal surface is covered with small projections called villi, which are slender, about 1.5-2 mm long projections of the mucosa into the lumen. In between the villi are the crypts. This term refers to a pathological thinning of these structures.


Hypocalcemic tetany

description: Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.


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


Abnormal toenail morphology

description: An anomaly of the toenail.


hereditary geniospasm

description: Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.


postaxial polydactyly type A

description: Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.


Abnormal urinary purine level

description: Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.


Type 2 schizencephaly

description: A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other.


name: Hepatic melanin-like lysosomal pigmentation

description: Accumulation of dark, coarsely granular pigment localized in lysosomes of centrilobular hepatocytes.


Dibasicaminoaciduria

description: An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).


encephalitis

description: An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes.


Impaired two-point discrimination

description: A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.


name: Anomalous origin of the right common carotid artery from the aorta

description: The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.


Eosinophilic gallbladder infiltration

description: Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.


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

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


Scheuermann disease

description: A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.


Tactile sensory seeking

description: Pursuit of a specific texture that is abnormal in intensity and/or frequency.


name: Aplasia/Hypoplasia of the fallopian tube

description: Aplasia or developmental hypoplasia of the fallopian tube.


Focal cortical dysplasia type Ia

description: A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.


Dilatation of celiac artery

description: Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.


Sleep myoclonus

description: Myoclonus that occurs during the initial phases of sleep.


Broad 2nd toe

description: A broad appearance of the second toe.


Premature pubarche

description: The onset of growth of pubic hair at an earlier age than normal.


Absent brainstem auditory responses

description: Lack of measurable response to stimulation of auditory evoked potentials.


Abnormality of blood circulation

description: An abnormality of blood circulation.


Patchy sclerosis of distal toe phalanx

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


name: Abnormal subcutaneous fat tissue distribution


Hypoplastic left atrium

description: Underdeveloped, small left heart atrium


Pallidal degeneration

description: Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.


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


name: Multiple muscular ventricular septal defects

description: A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.


Fragile teeth

description: A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.


Delusional memory

description: A delusional interpretation of a normal memory.


Hypoplasia of the frontal bone

description: Underdevelopment of the frontal bone.


Hyperechogenic kidneys

description: An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.


Screwdriver-shaped incisors

description: An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.


Tubular shadows

description: Tubular shadows are characterized by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization.


name: Increased urinary transitional epithelial cell count

description: An increased number of transitional epithelial cells per high-power field in urinanalysis.


cholesteatoma

description: A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.


Abnormal temporal bone morphology

description: Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.


Decreased CSF leucine concentration

description: Abnormally decreased levels of leucine in the cerebrospinal fluid.


autoimmune hypoparathyroidism

description: An autoimmune form of hypoparathyroidism.


Absent hallux epiphysis

description: Failure to form (agenesis) of one or more epiphyses of the big toe.


name: Elevated CSF chitinase-3-like protein 1 concentration

description: Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.


Lip tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting the lip.


Hippocampal malrotation

description: Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus.


Duplication of renal pelvis

description: A duplication of the renal pelvis.


absence of the pulmonary artery

description: A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension.


Increased urinary sedoheptulose

description: An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.


Urinary space collagenization

description: Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft.


name: inherited glutathione synthetase deficiency

description: Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.


Normal interictal EEG

description: Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.


phobic disorder

description: An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable.


Nephrotic range proteinuria

description: Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.


Oppenheim reflex

description: Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).


Abnormal septum pellucidum morphology

description: An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.


Eruption failure

description: A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.


Postprandial fullness

description: Feeling excessively full after meals.


brain cancer

description: A primary or metastatic malignant neoplasm affecting the brain.


Binucleated visceral epithelial cells

description: Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.


chronic idiopathic urticaria

description: Chronic form of idiopathic urticaria.


name: Aplasia/Hypoplasia of the phalanges of the 5th toe


Elevated brain lactate level by MRS

description: An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).


External carotid artery dissection

description: A separation (dissection) of the layers of the external carotid artery wall.


Venom allergy

description: Hypersensitivity in form of an adverse immune reaction against insect venom.


name: Abnormal circulating carnitine concentration

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


Abnormality of inferior alveolar nerve

description: An abnormality of an inferior alveolar nerve.


Central nail canal

description: The presence of a depressed line ("canal") in the center of the nail.


Elevated urinary 2-hydroxybutyric acid

description: An increased amount of 2-hydroxybutyric acid in the urine.


Proximal placement of hallux

description: Proximal mislocalization of the big toe from its normal position.


Abnormal right ventricle morphology

description: An abnormality of the right ventricle of the heart.


name: atrial septal defect, coronary sinus type

description: A developmental defect in which the coronary sinus fails to form.


Focal T2 hyperintense thalamic lesion

description: A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.


name: Anomalous coronary artery arising from the opposite sinus

description: Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.


Overjet

description: An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.


patent ductus arteriosus

description: A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure.


Intestinal lymphedema

description: Fluid retention and edema in the intestine caused by a compromised lymphatic system.


CSF mycobacteria

description: Mycobacterium present in the cerebrospinal fluid (CSF). This feature can be ascertained by CSF microscopy.


name: Abnormal cerebral venous sinus morphology

description: Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins.


Spontaneous hematomas

description: Spontaneous development of hematomas (hematoma) or bruises without significant trauma.


Abnormality of the pylorus

description: An abnormality of the pylorus.


Delusion

description: A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible.


hyperparathyroidism

description: Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.


Focal neonatal sequential seizure

description: Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.


EEG with abnormally slow frequencies

description: EEG with abnormally slow frequencies.


Abnormal thoracic duct morphology

description: Any structural anomaly of the thoracic duct.


name: Abnormality of cardiovascular system electrophysiology

description: An anomaly of the electrical conduction physiology of the heart.


carotid artery dissection

description: Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.


Compression-fractured vertebra

description: A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.


Abnormality of the anterior commissure

description: An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.


name: Abnormality of the distal phalanx of the 4th toe


Abnormally increased motivation

description: An excessive increase in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. It also includes an excessive increase in non goal-directed movement or activity.


bone neoplasm

description: A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.


Facial hirsutism

description: Excess facial hair.


name: Focal aware cognitive seizure with dysgraphia/agraphia

description: A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.


Hyporeflexia of upper limbs

description: Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.


name: Reduced sympathoneural responses to the cold pressor test

description: Response to the cold pressor test below the lower limit of normal. The cold pressor test is a simple and validated test in which the subject immerses one hand or foot into ice water for 1 to 3 minutes while blood pressure (BP) and heart rate are monitored. The cold stimulus activates afferent sensory pathways that, in turn, trigger a sympathetic response resulting in an increase in BP.


Absent mesencephalon

description: Agenesis of the midbrain.


Aortic arch aneurysm

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


amnestic disorder

description: Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories.


Hypovolemia

description: An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.


Facial asymmetry

description: An abnormal difference between the left and right sides of the face.


Straddling atrioventricular valve

description: Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.


familial dysfibrinogenemia

description: Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.


name: Tetralogy of Fallot with absent subarterial conus


Solitary angiokeratoma

description: A dark, keratotic papule about 2-10 mm in diameter, usually occuring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage.


name: Abnormal morphology of the proximal phalanx of the 5th toe


osteoma

description: A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course.


name: Posterior predominant subcortical band heterotopia

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


hyperkeratosis lenticularis perstans

description: Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.


CSF infectious agent

description: The presence of an infectious agent in the cerebrospinal fluid (CSF).


name: Patent ductus arteriosus after premature birth

description: Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.


Diffuse hepatic steatosis

description: A diffuse form of hepatic steatosis.


Hypothalamic gliosis

description: Focal proliferation of glial cells in the hypothalamus.


Molar tooth sign on MRI

description: An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.


Vascular calcification

description: Abnormal calcification of the vasculature.


name: Renal tubular basement membrane denudation

description: Naked basement membranes without tubular epithelium.


Sclerosis of 4th toe phalanx

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


Abnormal facial shape

description: An abnormal morphology (form) of the face or its components.


monostotic fibrous dysplasia

description: Fibrous dysplasia of bone involving only one bone.


name: Malformation of the hepatic ductal plate


Posterior communicating artery aneurysm

description: A widening (ballooning) localized in the wall of the posterior communicating artery.


name: Fractured epiphysis of first metatarsal bone

description: A partial or complete breakage of the epiphysis of first metatarsal bone.


nonsyndromic congenital nail disorder 4

description: Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.


Focal non-motor seizure

description: A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation.


name: Partial duplication of the proximal phalanx of the 5th toe

description: Partial duplication of the proximal phalanx of fifth toe.


mastoiditis

description: Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.


non-immune hydrops fetalis

description: Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.


diffuse alopecia areata

description: An alopecia areata that involves diffuse loss of hair over the whole scalp.


Hirano bodies

description: Intracellular aggregates of actin and actin-associated proteins within nerve cells.


Intratesticular abscess

description: A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.


vitamin A deficiency

description: Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.


Abnormal skeletal muscle morphology

description: A structural abnormality of a skeletal muscle.


Abnormal respiratory system morphology

description: A structural anomaly of the respiratory system.


Misalignment of incisors

description: Misaligned incisor.


Gustatory hallucination

description: Perception of taste without gustatory stimulus.


Aortic laminar medial collapse

description: Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.


progressive myoclonus epilepsy

description: A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.


name: Focal aware cognitive seizure with memory impairment

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


Wilms tumor

description: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.


xanthinuria

description: A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.


Gastric neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the stomach.


name: Renal tubular epithelial cell detachment

description: Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.


name: Elevated circulating linoleylcarnitine concentration

description: Increased concentration of linoleylcarnitine in the blood circulation.


name: Focal aware emotional seizure with paranoia

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


Sensory behavioral abnormality

description: Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli.


Beta-EEG

description: EEG dominated by diffuse beta-waves (>13 Hz).


name: Abnormal glomerular capillary lumen morphology

description: Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.


name: Periventricular white matter hypodensities

description: Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.


Microvesicular hepatic steatosis

description: A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.


name: Elevated CSF D-glyceric acid concentration

description: The concentration of D-carboxylic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


name: Abnormal circulating phospholipid concentration

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


hypoplastic left heart syndrome

description: Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.


Absent urinary urothione

description: Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.


Enteric neuronal degeneration

description: Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.


name: Elevated circulating dodecenoylcarnitine concentration

description: An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.


Esophageal food impaction

description: A piece of food that has gotten stuck in the esophagus and prevents further swallowing.


name: Thickened glomerular basement membranes with no electron dense deposits

description: Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.


Recurrent viral pneumonia

description: Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.


name: Cauliflower deformity of dermal collagen fibrils

description: An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.


Fractured phalanx

description: A partial or complete breakage of the phalanx.


Abnormality of the gallbladder

description: An abnormality of the gallbladder.


Increased urinary thiosulfate

description: Increased concentration of thiosulfate(2-) in the urine.


Submucous cleft hard palate

description: Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.


name: Elevated urine 3,6-epoxydicarboxylic acid level

description: The concentration of 3,6-epoxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Increased CSF glycine concentration

description: Abnormally increased levels of glycine in cerebrospinal fluid.


Polysyndactyly of hallux

description: Combined syndactyly and polydactyly of the great toe.


Congenital shortened small intestine

description: Substantially shortened length of the small intestine as a result of a developmental defect.


anxiety

description: Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.


Yellow papule

description: A papule with yellow color.


name: Reduced renal corticomedullary differentiation

description: Reduced differentiation between renal cortex and medulla on diagnostic imaging.


Abnormal CNS myelination

description: An abnormality of myelination of nerves in the central nervous system.


Paroxysmal supraventricular tachycardia

description: An episodic form of supraventricular tachycardia with abrupt onset and termination.


name: Abnormal left ventricular end-diastolic volume

description: Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).


Abnormal nervous system morphology

description: A structural anomaly of the nervous system.


depersonalization disorder

description: A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality.


bilateral polymicrogyria

description: Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.


Excessive hand washing

description: Hand washing behavior that is excessive for the situational context.


Abnormality of urine bicarbonate level

description: An abnormal amount of hydrogencarbonate in the urine.


Simple febrile seizure

description: A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.


Fused labia minora

description: Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.


description: A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.


Increased serum bile acid concentration

description: An increase in the concentration of bile acid in the blood.


name: Abnormal morphology of female internal genitalia

description: An abnormality of the female internal genitalia.


Biceps areflexia

description: Inability to elicit biceps tendon reflex.


Duodenal polyposis

description: Presence of multiple polyps in the duodenum.


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


language disorder

description: A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect.


Eye poking

description: Repetitive pressing, poking, and/or rubbing in the eyes.


Steroetypic upper-extremity movements

description: Abnormal movements of the upper extremities.


name: Focal aware cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.


name: Impaired visuospatial constructive cognition

description: Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).


Temporal lobe dysplasia

description: A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations.


Elevated urinary carboxylic acid

description: An increased amount of carboxylic acid in the urine.


Multifocal neonatal sequential seizure

description: Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.


name: Tubular basement membrane disintegration

description: DIsruption and breaking up of the basement membrane of the tubules of the kidney.


Heliotrope rash

description: In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.


Third cranial nerve hypoplasia

description: Underdevelopment of the third cranial nerve (oculomotor nerve).


name: Reduced CSF pyridoxal-5'-phosphate concentration

description: The concentration of pyridoxal-5'-phosphate in the cerebrospinal fluid (CSF) is below the lower limit of normal.


name: Increased circulating adrenic acid concentration

description: An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.


Abnormal hair morphology

description: An abnormality of the hair.


Placental mesenchymal dysplasia

description: Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.


Femoral artery duplication

description: A developmental defect characterized by the presence of a supernumerary femoral artery.


Interlobular vein intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.


Collagenoma

description: A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited.


Decreased cardiac output

description: A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.


Posteriorly placed anus

description: Posterior malposition of the anus.


alcohol abuse

description: The use of alcoholic beverages to excess, either on individual occasions ("binge drinking") or as a regular practice.


Skin dimple

description: Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.


Abnormality of the neck

description: An abnormality of the neck.


panniculitis

description: Inflammation of the subcutaneous adipose tissue.


Triceps hyporeflexia

description: Reduced intensity of the triceps tendon reflex.


Diminishment of social interactions

description: A reduction in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.


Abnormal cranial nerve physiology

description: A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.


agoraphobia

description: An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop.


Pain

description: An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.


Spinal cord granuloma

description: An aggregation of macrophages (forming in response to chronic inflammation) localized in or on the spinal cord.


supernumerary nostril

description: Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.


Abnormality of thyroid physiology

description: An abnormal functionality of the thyroid gland.


Short 2nd toe

description: Underdevelopment (hypoplasia) of the second toe.


Abnormal liver physiology

description: Any functional anomaly of the liver.


Positive Murphy sign

description: Murphy's sign is elicited in patients with acute cholecystitis by asking the patient to take in and hold a deep breath while palpating the subcostal region. In practice, Murphy's sign is performed by palpating the subcostal region during inspiration. If pain is elicited and the patient suddenly stops their inspiratory effort, a positive Murphy's sign has been elicited.


lymphatic vessel neoplasm

description: A benign or malignant neoplasm arising from the lymphatic vessels.


Palmar pruritus

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.


Reduced awareness of convention

description: Reduced awareness of expected conventions, which are normal and expected for particular social settings or interactions.


name: Fibrillary glomerular subepithelial deposits

description: A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Absence seizure with eyelid myoclonia

description: An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure.


Tapered toe

description: The gradual reduction in girth of the toe from proximal to distal.


name: Elevated brain guanidinoacetate level by MRS

description: An increase in the level of guanidinoacetate in the brain identified by magnetic resonance spectroscopy (MRS).


Widely spaced primary teeth

description: Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.


name: Elevated CSF L-2-hydroxyglutaric acid concentration

description: The concentration of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Williams-Campbell syndrome

description: A congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing.


name: Elevated urinary succinyladenosine level

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


Nail bed telangiectasia

description: Telangiectases in the area of the nails.


pectus excavatum

description: A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.


Hyperkeratotic papule

description: A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).


Aplasia of the uterus

description: Aplasia of the uterus.


Abnormally low-pitched voice

description: An abnormal decrease in the pitch of the voice.


Mixed cirrhosis

description: A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.


Limb ataxia

description: A kind of ataxia that affects movements of the extremities.


Renal tubular adenovirus inclusions

description: Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage.


Decreased urinary guanosine level

description: The amount of guanosine in the urine, normalized for urine concentration, is below the lower limit of normal. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond.


cleft soft palate

description: Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.


name: Increased urinary galactosylated oligosaccharide

description: An abnormal increase in the concentration of galactosylated oligosaccharides in urine.


name: Abnormal glomerular mesangial cellularity

description: Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.


Lipiduria

description: An increased lipid content in the urine.


Meningioma

description: The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.


Ichthyosis follicularis

description: Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.


alopecia universalis congenita

description: The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.


peripheral nervous system neoplasm

description: A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.


Ectopic gallstone

description: A gallstone located outside of the gallbladder.


name: Abnormal curvature of the vertebral column

description: The presence of an abnormal curvature of the vertebral column.


Abnormal libido

description: Any deviation from the normal sexual drive or desire for sexual activity.


Pontine ischemic lacunes

description: Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.


Shortening of all phalanges of the toes

description: Developmental hypoplasia (shortening) of all phalanges of the foot.


Delayed adrenarche

description: Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.


Renal interstitial fibrosis

description: The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.


Inertia

description: Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).


Action tremor

description: A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.


Ascending tubular aorta aneurysm

description: An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.


sternal cleft

description: Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.


Intellectual disability, progressive

description: The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.


Tibial arterial calcification

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


Pulmonary chondroma

description: A benign cartilaginous tumors of the lung.


Increased urine urobilinogen

description: An elevated concentration of urobilinogen in the urine.


oophoritis

description: Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix.


Diminishment of relationship seeking

description: A reduction in the tendency of a person to seek new interpersonal relationships or maintain existing relationships.


Elevated brain polyol compounds by MRS

description: An increase in the level of polyol compounds in the brain identified by magnetic resonance spectroscopy (MRS).


secondary hyperparathyroidism

description: Overproduction of parathyroid hormone in response to influence external to the parathyroid glands.


parkinsonian disorder

description: A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.


Cystic acne

description: A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.


Cystic medial necrosis

description: A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.


Anetoderma

description: Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.


name: Posterior communicating artery infundibulum

description: A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.


seborrheic keratosis

description: A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions.


congenital alveolar dysplasia

description: A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis.


Increased urinary epithelial cell count

description: An increased number of epithelial cells per high-power field in urinanalysis.


name: Microvillar PAS-positive secretory granules

description: The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures.


Elevated urine pyrophosphate

description: An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.


stomatitis

description: Inflammation of the oral mucosa due to local or systemic factors.


Agenesis of premolar

description: Agenesis of premolar tooth.


name: Orofacial action-specific dystonia induced by speech


Focal aware myoclonic seizure

description: A type of focal myoclonic seizure during which awareness is fully retained throughout.


name: Complete duplication of the middle phalanx of the 4th toe

description: Complete duplication of middle phalanx of fourth toe.


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

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


Agenesis of second permanent molar

description: Agenesis of either mandibular second permanent molar or maxillary second permanent molar.


name: Glomerular PLA2R immune-complex deposition

description: Accumulation of immune deposits, containing auto-antibodies against the podocyte antigen M-type phospholipase A2 receptor (PLA2R) in intraglomerular locations.


cervical intraepithelial neoplasia

description: Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade.


Generalized lymphadenopathy

description: A generalized form of lymphadenopathy.


Early cutaneous photosensitivity

description: Photosensitivity of the skin occurring early in life.


gait apraxia

description: Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia.


Photosensitive myoclonic seizure

description: Generalised myoclonic seizure provoked by flashing or flickering light.


Cotard delusion

description: A false belief that you or your body parts are dead, dying, or do not exist.


Incomplete cleft hard palate

description: Cleft hard palate in which the cleft does not go through the entire length of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior border of the soft palate.


blood vessel neoplasm

description: A neoplasm arising from arteries or veins.


Homoargininuria

description: An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid.


Increased level of ribose in urine

description: An increase in the level of ribose in the urine.


name: Abnormal inferior thyroid vein morphology

description: An abnormality of an inferior thyroid vein.


name: Increased level of L-pyroglutamic acid in urine

description: An increase in the level of L-pyroglutamic acid in the urine.


Pulmonary lymphangiectasia

description: Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.


name: Cortical radial artery intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


Fourth heart sound

description: The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction.


Hyperkinetic movements

description: Motor hyperactivity with excessive movement of muscles of the body as a whole.


seasonal allergic rhinitis

description: Allergic rhinitis caused by outdoor allergens.


Myocardial late gadolinium enhancement

description: Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.


name: Increased circulating very long-chain fatty acid concentration

description: Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.


description: Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.


Convex contour of sole

description: The contour of the foot in lateral profile has a convex shape.


Urethral atresia, female

description: Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.


spondylosis, cervical

description: Arthritis of the cervical spine.


Renal arteriolar intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney.


familial dermatographia

description: Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may involve use of antihistamines if symptoms do not go away on their own.


Widened atrophic scar

description: An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.


Abnormal language feature

description: The presence of any atypical form of expressive language.


Enlarged Eustachian valve

description: An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.


acute megakaryoblastic leukemia

description: Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.


name: Elevated urine 2-methylacetoacetic acid level

description: Amount of 2-methylacetoacetic acid in the urine above upper limit of normal.


CSF pleocytosis

description: An increased white blood cell count in the cerebrospinal fluid.


Thickening of glomerular capillary wall

description: Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.


name: Elevated left ventricular end-diastolic diameter

description: The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae.


congenital coronary artery anomaly

description: Any structural abnormality of the coronary arteries.


name: Triangular epiphysis of the proximal phalanx of the hallux


name: Eye of the tiger anomaly of globus pallidus

description: The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.


fallopian tube neoplasm

description: A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.


Penetrating aortic ulcer

description: A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.


name: anomalous left coronary artery from the pulmonary artery

description: A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life.


Abnormal renal glomerulus morphology

description: A structural anomaly of the glomerulus.


Disturbed perception with a stimulus

description: A perceptual experience in which an individual's perception of sensory stimuli is altered or disrupted in some way, resulting in abnormal or distorted sensory perceptions despite the presence of actual external stimuli.


name: Fractured middle phalanx of manual digit 3

description: A partial or complete breakage of the middle phalanx of manual digit 3.


name: Acute disseminated intravascular coagulation

description: An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.


Rete ridge flattening

description: Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.


Motor axonal neuropathy

description: Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.


Anagen effluvium

description: An abnormal loss of anagen (growth phase) hairs.


name: Focal aware cognitive seizure with anomia

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


Transient decreased circulating IgA

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


Renal glomerular amyloid deposition

description: Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.


Abnormal lower motor neuron morphology

description: Any structural anomaly of the lower motor neuron.


name: Paradoxical splitting of the second heart sound

description: Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).


chromhidrosis

description: A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.


Foramen ovale aneurysm

description: Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow.


Suck reflex

description: A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.


name: Transphyseal fracture of the distal humerus

description: A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.


Albuminuria

description: Increased concentration of albumin in the urine.


Inappropriate crying

description: Uncontrolled episodes of crying occur without any apparent motivating stimuli.


name: Duplication of the middle phalanx of the 2nd toe

description: Partial or complete duplication of middle phalanx of second toe.


name: Renal medullary interstitial inflammation

description: Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.


Overlapping toe

description: Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.


name: Aplasia of the pyramids of the medulla oblongata

description: Congenital absence of the pyramids, that is, of the paired structures located at the medial aspect of the ventral medulla that flank the anterior median fissure.


Impaired heel-walking ability

description: Difficulty or reduced ability to walk on heels. Heel-walking can be tested as a part of the neurological examination. Foot dorsal extention weakness leads to difficulties in walking on heels.


Asymmetric abdominal aortic aneurysm

description: An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).


Abnormal papillary muscle morphology

description: Any structural anomaly of the papillary muscles of the left ventricle.


rhabdoid tumor

description: An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.


name: Decreased proportion of effector memory CD8-positive, alpha-beta T cells

description: A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


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

description: Partial duplication of middle phalanx of third toe.


Abnormal cerebral vascular morphology

description: An anomaly of the cerebral blood vessels.


Gastric varix

description: Extreme dilation of the submucusoal veins in the stomach.


name: Elevated CSF dihydrouracil concentration

description: The concentration of dihydrouracil in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Increased serum prostaglandin E2

description: An increased concentration of prostaglandin E2 in the blood.


name: Abnormal morphology of the limbic system

description: Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].


name: Fixated interest with abnormal intensity

description: An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person.


name: Proximal/middle symphalangism of 3rd toe

description: Bony fusion of the middle and proximal phalanges of the 3rd toe.


name: Loss of ability to walk in early childhood


neurodegenerative disease

description: A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.


arrhinia

description: Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.


name: Enlarged epiphysis of the proximal phalanx of the hallux


name: Right aortic arch with left descending aorta and left ductus arteriosus


Malformation of mandibular premolar

description: An abnormality of the morphology of secondary premolar tooth.


name: Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration

description: The concentration of 2-trans,4-cis-decadienoylcarnitine in the blood circulation is above the upper limit of normal.


Abnormal S wave

description: Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.


non-syndromic amelia

description: A congenital malformation characterized by the complete absence of all limbs.


Coronary-pulmonary artery fistula

description: A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.


hypercementosis

description: A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)


name: Focal sensory seizure with visual features

description: A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.


Neonatal focal clonic seizure

description: Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.


Absent sebaceous glands

description: Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.


Abnormal Bowman capsule morphology

description: A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.


hyperprolinemia

description: Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.


Microscopic nephrocalcinosis

description: The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.


congenital pulmonary veins anomaly

description: Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.


Kyphoscoliosis

description: An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.


name: Aplasia of the inferior half of the cerebellar vermis


name: Focal impaired awareness cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.


Cardiac valve calcification

description: Abnormal calcification of a cardiac valve.


name: Pseudoepiphysis of the distal phalanx of the 2nd toe


Abnormality of blood volume homeostasis

description: An abnormality in the amount of volume occupied by intravascular blood.


name: Reduced reticular lamina anchoring fibril density

description: Diminished amount of the anchoring fibrils in the basement membrane zone that normally attach the epithelium to the basement membrane.