Cobblestone-like hyperkeratosis

description: The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.


Decreased CSF threonine concentration

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

description: Abnormally decreased levels of threonine in cerebrospinal fluid.


Oculogyric crisis

description: An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.


Moderate hearing impairment

description: The presence of a moderate form of hearing impairment.


popliteal cyst

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

description: A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint.


Anti-envoplakin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions.


proximal spinal muscular atrophy

description: Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


Abnormal proportion of naive T cells

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


Hepatojugular reflux

description: The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.


name: Partial duplication of the phalanges of the 3rd finger

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Abnormal aortic valve cusp morphology

description: Any structural anomaly of the aortic valve leaflets.


name: Elevated circulating glutaric acid concentration

description: An increased concentration of glutaric acid in the blood.


name: Elevated circulating calprotectin concentration

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


Hypoplasia of the vagina

description: Developmental hypoplasia of the vagina.


Increased level of L-fucose in urine

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


name: Abnormal medullary peritubular capillary morphology

description: Anomalous structure of the peritubular capillaries located in the medulla of the kidney.


Ambiguous genitalia, male

description: Ambiguous genitalia in an individual with XY genetic gender.


name: Right aortic arch with mirror image branching

description: The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.


Abnormal hepatic artery morphology

description: Any structural anomaly of the hepatic artery or its branches.


Abnormal dentin morphology

description: Any abnormality of dentin.


Pelvic kidney

description: A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.


Fractured proximal phalanx of digit 4

description: A partial or complete breakage of the proximal phalanx of digit 4.


Anal stenosis

description: Abnormal narrowing of the anal opening.


Neonatal multifocal clonic seizure

description: Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.


Trigeminal anesthesia

description: Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.


name: Anti-histidyl tRNA synthetase antibody positivity

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


Subaortic ventricular septal bulge

description: A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.


Reduced CSF creatine concentration

description: The concentration of creatine in the cerebrospinal fluid (CSF) is below the lower limit of normal.


Snout reflex

description: A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.


Increased circulating ACTH level

description: An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.


Fractured carpal bone

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


Foamy urine

description: Urine has an increased amount of frothy fine bubbles.


hemifacial hypertrophy

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


Lower limb phocomelia

description: Phocomelia affecting only the lower limbs.


Hypoglycemic coma

description: Coma induced by low blood sugar.


Abnormal brain-evoked potentials

description: Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units.


Osteochondromyxoma

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


Agenesis of pineal gland

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


name: Decreased circulating thyroxine-binding globulin concentration

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


name: Abnormal circulating fibroblast growth factor 23 concentration

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


Reduced cerebral white matter volume

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


Elevated left atrial pressure

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


Anti-endomysial antibody positivity

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


Thickened nuchal skin fold

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


Monoclonal elevation of IgG light chain

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


1-5 finger syndactyly

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


Urinary incontinence

description: Loss of the ability to control the urinary bladder leading to involuntary urination.


Monocarboxylic aciduria

description: Level of a monocarboxylic acid in the urine above the upper limit of normal. A monocarboxylic acid is an oxoacid containing one carboxy group.


Purulent parotid gland drainage

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


name: Elevated circulating tetradecanoylcarnitine concentration

description: Elevated circulating tetradecanoyl concentration.


name: Complete heart block with narrow QRS complexes

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


Generalized hypoplasia of dental enamel

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


name: Abnormal circulating vitamin E concentration

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


name: Elevated urine 2-hydroxy-3-methylvaleric acid level

description: Amount of 2-hydroxy-3-methylvaleric acid in the urine above the upper limit of normal. 2-Hydroxy-3-methylpentanoic acid or 2-hydroxy-3-methylvaleric acid (HMVA) is an organic acid generated by L-isoleucine metabolism.


Malalignment of the great toenail

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


Visceral epithelial cell detachment

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


Fusion of the caudate and putamen

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


name: Abnormal male internal genitalia morphology

description: An abnormality of the male internal genitalia.


Perseverative thought

description: Manifestations of perseverative thoughts are behaviors that do not meet the demands of the situation, are not the product of deliberation, and may unfold despite counter intention.


Iliac artery aneurysm

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


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

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


Reduced insulin-like factor 3 level

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


Small scrotum

description: Apparently small scrotum for age.


Bilioduodenal fistula

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


Pelvic pain

description: Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones.


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

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


name: Increased anti-food allergen IgE antibody level

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


Reduced pancreatic beta cells

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


Low voltage EEG

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


name: Elevated circulating guanidinoacetic acid concentration

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


name: Abnormal response to insulin tolerance test

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


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

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


Elevated urinary porphyrin level

description: The amount of a porphyrin compound in the urine, normalized for urine concentration, is above the upper limit of normal. Porphrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. Porpyrins giove rise to heme and combalamine.


Childhood-onset truncal obesity

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


Short stature

description: A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


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

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


Premature loss of permanent teeth

description: Premature loss of the permanent teeth.


Abnormal cellular phenotype

description: An anomaly of cellular morphology or physiology.


Skin plaque

description: A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.


meningocele

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


Abnormal venous morphology

description: An anomaly of vein.


Increased CD4:CD8 ratio

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


Mitral opening snap

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


Ovarian cystadenoma

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


name: Abnormal urinary nitrogen compound level

description: The amount of a nitrogen compound in the urine, normalized for urine concentration, is outside of normal limits.


Fractured manual digit bone

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


Diffuse cerebral calcification

description: Generalized deposition of calcium salts within the cerebrum.


name: Focal EEG discharges with secondary generalization

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


Telangiectases of the cheeks

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


Myocardial eosinophilic infiltration

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


Reduced social smiling

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


name: Positive 2,4-dinitrophenylhydrazine urine test

description: Positive (abnormal) result of the 2,4-dinitrophenylhydrazine urine test, which indicates the presence of alpha-ketoacids in the urine.


Syntelencephaly

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


Renal hypoplasia/aplasia

description: Absence or underdevelopment of the kidney.


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

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


pineocytoma

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


name: Elevated circulating long chain fatty acid concentration

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


Renal arteriole medial hypertrophy

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


name: Abnormality of peripheral nerve conduction

description: An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).


Abnormal temper tantrums

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


anhidrosis

description: Lack of sweating or the ability to sweat when provoked by the appropriate stimulus.


Indifference to social norms

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


Short attention span

description: Reduced attention span characterized by distractibility and impulsivity.


name: Patchy sclerosis of middle phalanx of finger

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


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

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


Interrupted aortic arch type A

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


name: Abnormal proportion of unswitched memory B cells

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


name: Abnormal circulating calcium-phosphate regulating hormone concentration

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


Genital neoplasm

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


name: Decreased circulating ACTH concentration

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


Short term memory impairment

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


Scrotal hyperpigmentation

description: Increased pigmentation (skin color) of the scrotum.


Psychic epileptic aura

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


Subpleural honeycombing

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


Monotonic speech

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


name: Reduced circulating cortisol-binding globulin concentration

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


name: Decreased proportion of naive CD8 T cells

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


Episodic quadriplegia

description: Intermittent episodes of paralysis of all four limbs.


Freckled genitalia

description: One or more brown punctate macules on the skin of the genitalia.


name: Arcuate artery intima/media arteriosclerosis

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


Abnormal buccal mucosa morphology

description: An abnormality of a buccal mucosa.


name: Grade IV preterm intraventricular hemorrhage

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


name: Hypertension resistant to conventional therapy

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


Recurrent hypoglycemia

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


name: Osteolytic defects of the proximal phalanx of the hallux


Hypotriglyceridemia

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


focal hand dystonia

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


Anti-transglutaminase 6 antibody

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


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

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


name: Abnormal posterior cranial fossa morphology

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


Decreased Achilles reflex

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


Elevated dermal desmosine content

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


Tented philtrum

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


Hypomagnesiuria

description: An decreased concentration of magnesium the urine.


name: Plantar crease between first and second toes

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


name: Double inlet to single ventricle with two atrioventricular valves


name: Focal sensory seizure with vestibular features

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


Vivid hallucination

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


Prolinuria

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


Reduced brain lactate level by MRS

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


Elevated urinary S-sulfocysteine level

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


Hyperoxemia

description: An abnormally high level of blood oxygen.


Abnormal CSF ornithine concentration

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


Proximal muscle weakness in upper limbs

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


Periorbital edema

description: Edema affecting the region situated around the orbit of the eye.


Abnormal bone ossification

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


name: Cortical radial artery intima/media multilamellation

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


Absent keratohyalin granules

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


Easy fatigability

description: Increased susceptibility to fatigue.


Lafora bodies

description: An intraneuronal inclusion body composed of acid mucopolysaccharides.


name: Uric acid urolithiasis independent of gout


name: Fractured proximal phalanx of manual digit 1

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


Gastric pseudomass

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


Abnormality of the forehead

description: An anomaly of the forehead.


Ectopic accessory finger-like appendage

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


Perilobar nephrogenic rest

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


Abnormal terminal:vellus ratio

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


Abnormality of vitamin metabolism

description: An anomaly in the metabolism of a vitamin.


EEG with periodic abnormalities

description: Periodically recurring abnormalities in the EEG.


Nausea and vomiting

description: Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.


Cerebral hypoplasia

description: Underdevelopment of the cerebrum.


Perianal abscess

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


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


Early onset absence seizures

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


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


Perilobar nephroblastomatosis

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


name: Abnormal circulating purine concentration

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


Elevated urinary thymidine level

description: The amount of thymidine in the urine, normalized for urine concentration, is below the lower limit of normal.


Elevated urine succinic acid level

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


Cephalohematoma

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


Mesangial microfibril deposition

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


Decreased adipose tissue around neck

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


Cerebral hyaline bodies

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


Abnormal CSF protein concentration

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


Hemothorax

description: The presence of blood in the pleural space.


Abnormal germ cell morphology

description: Any structural anomaly of a reproductive cell.


Patchy palmoplantar hyperkeratosis

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


Elevated urinary quinolinic acid level

description: The amount of quinolinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Quinolinic acids is a pyridinedicarboxylic acid that is pyridine substituted by carboxy groups at positions 2 and 3. It is a metabolite of tryptophan.


name: Abnormal circulating creatinine concentration

description: An abnormal concentration of creatinine in the blood.


Intracranial neurenteric cyst

description: A neurenteric cyst located within the skull.


Toe pain

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


Adrenal gland agenesis

description: Absent development of the adrenal gland.


Increased urinary hypoxanthine level

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


Nasal mucosa telangiectasia

description: Telangiectasia of the nasal mucosa.


Type V atherosclerotic lesion

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


name: Anti-alanyl-tRNA synthetase antibody positivity

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


triatrial heart

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


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


cranial nerve palsy

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


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

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


EEG with continuous slow activity

description: EEG showing diffuse slowing without interruption.


Prominent digit pad

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


Impairment of fructose metabolism

description: An impairment of a fructose metabolic process.


Abnormal pancreatic duct morphology

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


Trichoschisis

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


name: EEG with photoparoxysmal response grade II

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


Abnormal urinary organic compound level

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


Tubulointerstitial fibrosis

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


Acral blistering

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


name: Abnormal proportion of CD8-positive T cells

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


name: Partial right sided absence of pericardium

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


Abnormal limb epiphysis morphology

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


1-4 finger syndactyly

description: Syndactyly with fusion of fingers one to four.


Epidural hemorrhage

description: Hemorrhage occurring between the dura mater and the skull.


ear malformation

description: An abnormality of the ear.


name: Focal aware emotional seizure with agitation

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


name: Absent bronchoalveolar dimeric surfactant-protein B

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


Elevated urinary homogentisic acid

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


Fractured tibia

description: A partial or complete breakage of the tibia.


name: Increased circulating isovaleric acid concentration

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


Gallbladder wall thickening

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


orchitis

description: Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation.


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

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


name: Urinary excretion of sialylated oligosaccharides

description: Excretion of oligosaccharides conjugated to sialic acid in the urine.


Abnormal uterus morphology

description: Any anomaly of the structure of the uterus


name: Abnormal circulating albumin concentration

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


Splenogonadal fusion

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


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

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


Exstrophy

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


Fixation-off epileptiform discharges

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


Female hypogonadism

description: Decreased functionality of the female gonads, i.e., of the ovary.


Ivory epiphyses of the 4th finger

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


Abnormal hypnopompia

description: Abnormal transition of consciousness from sleeping to wakefulness.


Microcephalic sperm head

description: Decreased size of the head of sperm.


Anti-H4 antibody positivity

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


name: Fractured epiphysis of fifth metacarpal bone

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


Abnormality of neuronal migration

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


Hypoglutaminemia

description: Decreased amount of glutamine in the blood.


Complete bilateral cleft lip

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


Cerebral ventricular adhesions

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


Spontaneous cerebrospinal fluid leak

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


name: Increased CSF L-alloisoleucine concentration

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


Anti-MDA5 antibody positivity

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


eosinophilic cryptitis

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


Abnormal angiostatin level

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


Mild conductive hearing impairment

description: A mild form of conductive hearing impairment.


Elevated urine tiglylglycine level

description: Amount of tiglylglycine in the urine above upper limit of normal.


Respiratory distress

description: Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.


Torsion of the penis

description: Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.


Abnormal HDL3a concentration

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


Platelet antibody positive

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


name: Abnormal blood inorganic cation concentration

description: An abnormality of divalent inorganic cation homeostasis.


Thick oral frenulum

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


aorto-ventricular tunnel

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


Addictive video game use

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


central nervous system cyst

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


germinoma

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


Anti-smooth muscle antibody positivity

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


name: Abnormal cardiomyocyte plakoglobin staining

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


Mirror image hand polydactyly

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


parietal encephalocele

description: An encephalocele located between bregma and lambda.


Fractured cuboid bone

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


Elevated urine manganese level

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


name: Complete diaphragmatic absence of pericardium

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


Cerebellar agenesis

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


Abnormal nephron morphology

description: A structural anomaly of the nephron.


4-hydroxyphenyllactic aciduria

description: Amount of 4-hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Elevated urinary 3,4-Dihydroxybutyric acid level

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


name: Abnormal immunoglobulin level in body fluid

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


name: Elevated circulating lipoprotein(a) concentration

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


Unilateral vocal cord paralysis

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


Cortical tubers

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


Abnormal ST segment

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


Abnormal blood cation concentration

description: An abnormality of cation homeostasis.


Shoulder dislocation

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


Disseminated molluscum contagiosum

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


Cognitive distortion

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


Pulmonary amyloidosis

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


Monoclonal elevation of IgG

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


Upturned corners of mouth

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


Medium chain dicarboxylic aciduria

description: An increase in the level of medium chain dicarboxylic acid in the urine.


Hypnagogic sleep paralysis

description: Sleep paralysis that occurs when falling asleep.


Decreased serum leptin

description: A decreased concentration of leptin in the blood.


Lichenification

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


Delayed fine motor development

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


Osteolysis involving tarsal bones

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


name: Renal arteriole intima/media liquefactive necrosis

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


name: Elevated circulating C5 acylcarnitine concentration

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


Anti-21-hydroxylase antibody positivity

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


name: Abnormal left ventricular ejection fraction

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


Ineffective esophageal peristalsis

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


Abnormal talus morphology

description: An abnormality of the talus.


Abnormal blood sodium concentration

description: An abnormal concentration of sodium.


Moderate oligozoospermia

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


Anti-Amphiphysin antibody

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


Dysgenesis of the cerebellar vermis

description: Defective development of the vermis of cerebellum.


capillary leak syndrome

description: A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure.


name: Stippling of the epiphyses of the 2nd toe

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


Constitutional symptom

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


Reduced euglobulin clot lysis time

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


Delayed recoil upon stretching of skin

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


name: Reduced criculating stearoylcarnitine concentration

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


name: Increased circulating inhibin B concentration

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


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

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


Fractured metatarsal bone of digit 1

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


name: Decreased level of 1,5 anhydroglucitol in serum

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


Abnormal PR interval

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


hyperhidrosis palmaris ET plantaris

description: An abnormally increased perspiration on palms and soles.


Elevated urinary L-glycerate level

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


Increased anti-egg IgE antibody level

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


name: Symmetric spinal nerve root neurofibromas

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


Morgagni-Stewart-Morel syndrome

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


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


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

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


Pigment incontinence

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


Periorbital hyperpigmentation

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


Abnormal soft palate morphology

description: An abnormality of the soft palate.


Battle sign

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


CSF lymphocytic pleiocytosis

description: An increased lymphocyte count in the cerebrospinal fluid.


Abnormal biliary tract physiology

description: A functional abnormality of the biliary tree.


Intra-oral hyperpigmentation

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


Tapered sperm head

description: Sperm with cigar-shaped heads that gradually dimish in diameter (taper).


Transient decreased circulating IgG1

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


Third cranial nerve thickening

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


name: Elevated circulating oxalate concentration

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


Neoplasm of the nail

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


geographic tongue

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


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


angiolipoma

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


Aortic root aneurysm

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


Aggression towards others

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


Abnormal PR segment

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


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

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


Fetal chylothorax

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


Orbital rhabdomyosarcoma

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


ovarian fibroma

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


Symmetric polyarthritis

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


Abnormal pineal volume

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


name: Subepithelial glomerular basement membrane electron dense deposits

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


Umbilicated nodule

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


Jaw contracture

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


Abnormal urine metabolite level

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


Micronodular cirrhosis

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


Renal tubular atrophy

description: The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.


Abnormal labia majora morphology

description: An anomaly of the outer labia.


Testicular lipomatosis

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


Round spermatid arrest

description: A failure of spermatogenesis to progress beyond the round spermatid stage. The round spermatid is the first haploid cells produced during spermatogenesis and normally further develop into mature spermatozoa. This abnormality can be visualized with testicular biopsy and is characterized seminiferous tubules with increased numbers of round spermatids with few or no mature spermatozoa.


name: Elevated urine N-acetylaspartic acid level

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


name: Decreased urine bicarbonate concentration

description: Abnormally decreased concentration of hydrogencarbonate in the urine.


name: Elevated urine 3-hydroxypropionic acid level

description: Amount of 3-hydroxypropionic acid in the urine above the upper limit of normal.


name: Increased anti-seafood IgE antibody level

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


Gastric xanthoma

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


name: Elevated circulating palmitoylcarnitine concentration

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


name: Hypoplasia of mandible relative to maxilla

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


Aplasia of the parotid gland

description: Absence of the parotid gland.


name: Elevated circulating alpha-fetoprotein concentration

description: Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.


Abnormality of the incisor

description: An abnormality of the Incisor tooth.


Abnormal heart rate variability

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


penoscrotal transposition

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


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


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


name: Focal aware cognitive seizure with left-right confusion

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


Abnormal renal echogenicity

description: Anomalous echogenicity of the kidney on ultrasound examination.


Abnormal thought pattern

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


hypertrophy of breast

description: Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain.


Elevated aldosterone:renin ratio

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


name: Diffuse ribbon-like subcortical heterotopia

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


name: Elevated urinary methylmalonylcarnitine level

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


Delusions of infestation

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


Flexural lichenification

description: Lichenification affecting primarily flexural areas of the skin.


Dysplastic aortic valve

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


name: Nonfunctional or atypical use of objects in play

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


name: Elevated urinary 3-hydroxykynurenine level

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


Isolation of the left subclavian artery

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


second-degree atrioventricular block

description: Intermittent failure of atrial electrical impulse conduction to the ventricles.


Adrenocorticotropin receptor defect

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


Abnormal breast morphology

description: Any anomaly of the structure of the breast.


Atypical scarring of skin

description: Atypically scarred skin .


Hematocolpos

description: Accumulation of blood in the vagina usually due to vaginal obstruction.


Lobulated tongue

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


name: Increased level of platelet-activating factor


name: Elevated circulating dihydroxyphenylacetic acid concentration

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


Infrequent social engagement with peers

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


EEG with spike-wave complexes

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


Increased placental thickness

description: Abnormally elevated placental thickness.


Lip cyanosis

description: Bluish discoloration of the lips.


name: Anti-Kelch like protein 11 antibody positivity

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


pelvic lipomatosis

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


Localized area of pendulous skin

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


Positive blood infectious agent test

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


Absence of CD8-positive T cells

description: Lack of detectible CD8-positive T cells


Abnormal endocardium morphology

description: An abnormality of the endocardium.


name: Focal impaired awareness cognitive seizure with neglect

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


Short fetal femur length

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


Abnormal capillary morphology

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


Elevated circulating tenascin-C level

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


Severe conductive hearing impairment

description: A severe form of conductive hearing impairment.


Abnormal cerebellar cortex morphology

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


Post-partum hemorrhage

description: Significant maternal hemorrhage/blood loss following deilvery of a child.


name: Liver kidney microsome type 1 antibody positivity

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


Cavitation of the basal ganglia

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


Testicular mesothelioma

description: A Malignant mesothelioma of the testis.


Intratubular hyaline casts

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


Abnormal blood zinc concentration

description: An abnormality of zinc ion homeostasis.


name: Abnormal circulating proteinogenic amino acid derivative concentration

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


Hyperthreoninuria

description: An increased concentration of threonine in the urine.


Copper accumulation in brain

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


dermoid cyst

description: A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin.


name: Head impulse test has corrective saccade

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


name: Right ventricular regional wall motion abnormality

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


Abnormal macroscopic urine appearance

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


name: Unilateral conductive hearing impairment


chronic rhinosinusitis

description: Chronic form of sinusitis.


Osseous finger syndactyly

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


name: Increased circulating troponin I concentration

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


Webbed neck

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


Descending aortic dissection

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


Hemangioma of the lip

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


Postauricular pit

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


Intralamellar aortic medial fibrosis

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


name: Rudimentary postaxial polydactyly of hands


Flexion contracture of the 2nd toe

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


Joint contracture

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


Menometrorrhagia

description: Prolonged/excessive menses and bleeding at irregular intervals.


Enlarged epididymis

description: Abnormal increase in the size of the epididymis.


name: Decreased CSF 5-hydroxyindolacetic acid concentration

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


Thickened superior cerebellar peduncle

description: Increased width of the superior cerebellar peduncle.


Glomerular fibrin thrombus

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


Abnormality of the wrist

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


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

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


Yellow skin plaque

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


Lymph node xanthomatosis

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


Abnormal urine potassium concentration

description: An abnormal concentration of potassium(1+) in the urine.


Hypotyrosinemia

description: An decreased concentration of tyrosine in the blood.


Diffuse cerebellar atrophy

description: Diffuse unlocalised atrophy affecting the cerebellum.


Neonatal hypoglycemia

description: Blood glucose concentration below the lower limit of established reference ranges in a newborn.


Abnormal middle ear morphology

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


Focal cortical dysplasia type III

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


EEG with spike-wave complexes (>3.5 Hz)

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


Congenital absence of portal vein

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


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

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


Anti-hexokinase-1 antibody positivity

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


Focal aware verbal automatism seizure

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


name: Impaired renal tubular reabsorption of chloride

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


Hepatic polyglucosan accumulation

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


Abnormality of circulating fibrinogen

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


Hip dislocation

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


name: Posterior predominant thick cortex pachygyria

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


Ischemic stroke

description: Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.


Abnormality of the kidney

description: An abnormality of the kidney.


Pleural cobblestoning

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


Fractured phalanx of manus

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


Increased T3/T4 ratio

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


Periventricular pseudocyst

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


Fractured fibula

description: A partial or complete breakage of the fibula.


Abnormal dentate nucleus morphology

description: An abnormality of the dentate nucleus.


name: Abnormal circulating aromatic amino acid concentration

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


Pulmonary artery dilatation

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


Abnormal labia morphology

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


EEG with multifocal slow activity

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


Duodenal arteriovenous malformation

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


name: Increased urine isobutyrylglycine concentration

description: Elevated concentration of isobutyrylglycine in the urine.


lentigo maligna melanoma

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


Elevated urinary creatine level

description: An increased amount of creatine in the urine.


name: Interlobular vein intima/media liquefactive necrosis

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


name: Abnormal mandibular symphysis morphology

description: A structural abnormality of a mandibular symphysis.


Infantile spasms

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


EEG with photoparoxysmal response

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


Crypt hyperplasia

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


Retrograde ejaculation

description: The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.


Fractured navicular bone of pes

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


Protrusio acetabuli

description: Intrapelvic bulging of the medial acetabular wall.


name: Abnormal circulating thromboxane concentration

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


Esophageal mass

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


name: Abnormal intrahepatic bile duct morphology

description: An abnormality of the intrahepatic bile duct.


Increased radioactive iodine uptake

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


secretory component deficiency

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


name: Abnormal circulating pyruvate family amino acid concentration

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


name: Focal aware cognitive seizure with dissociation

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


Spinal cord calcifications

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


Reduced F-wave amplitude

description: Reduced strength (amplitude) of the F-wave, which is an electrophysiological artifact produced by antidromic activation of motoneurons following distal electrical stimulation of motor nerve fibers.


Accelerated atherosclerosis

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


In situ pulmonary artery thrombosis

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


Frontal polymicrogyria

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


Extrahepatic bile duct fibrosis

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


Painful subcutaneous lipomas

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


Abnormal vascular physiology

description: Abnormality of vascular function.


Disorganized speech or communication

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


name: Focal impaired awareness cognitive seizure with dyscalculia/acalculia

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


name: Abnormal circulating organic amino compound concentration

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


Fused cervical vertebrae

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


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


head and neck paraganglioma

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


Abnormality of the vertebral column

description: Any abnormality of the vertebral column.


name: Arcuate artery intima/media granulomatous arteriitis

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


Regional right ventricular hypokinesis

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


Glomerular obsolescence

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


name: Abnormal respiratory motile cilium physiology

description: Any functional anomaly of the respiratory motile cilia.


Ureteral stenosis

description: The presence of a stenotic, i.e., constricted ureter.


Apical hypertrophic cardiomyopathy

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


name: Elevated CSF cystathionine concentration

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


Frontal release signs

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


Arachnoid granulation

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


name: Interlobular vein intima/media granulomatous venulitis

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


Anti-ARHGAP26 antibody

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


Dural ectasia

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


Intracranial epidermoid cyst

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


Chronic oral candidiasis

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


name: Insufficient response to short acting pulmonary vasodilator

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


Recurrent skin infections

description: Infections of the skin that happen multiple times.


EEG with central sharp waves

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


name: Focal autonomic seizure with urge to urinate/defecate

description: A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.


name: Anti-glycyl tRNA-synthetase antibody positivity

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


developmental dysplasia of the hip

description: A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.


Decreased urinary neopterin level

description: The amount of neopterin in the urine, normalized for urine concentration, is below the lower limit of normal.


name: Decreased circulating epinephrine concentration

description: Concentration of epinephrin in the blood circulation below the lower limit of normal.


name: Cortical radial artery neutrophil hypercellularity

description: A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries.


Abnormal bladder morphology

description: Any structural anomaly of the bladder.


Preauricular skin tag

description: A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).


Low self-esteem

description: Low self-confidence and excessively critical feelings about oneself characterize a negative opinion about oneself.


EEG with occipital sharp slow waves

description: EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Diastomatomyelia

description: Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.


Feather allergy

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


Beta 2-microglobulinuria

description: Increased level of beta 2-microglobulins in the urine.


Severe lactic acidosis

description: A severe form of lactic acidemia.


Acral ulceration

description: A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.


Laryngeal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.


Nonprogressive muscular atrophy

description: Muscular atrophy that does not display a progression in severity with time.


Low posterior hairline

description: Hair on the neck extends more inferiorly than usual.


Whole-immunoglobulin paraproteinemia

description: An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.


Primary Caesarian section

description: Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.


Lack of expressed empathy

description: This term refers to the observation that an affected person tends not to provide situationally appropriate responses to other people in times when these people are in emotional need. For instance, failure to provide comfort to a person who is sad or crying.


Increased HDL2b concentration

description: An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


Invasive pulmonary aspergillosis

description: Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.


Prolonged PR interval

description: Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).


Cerebral germinoma

description: The presence of a germ cell tumor of the cerebrum.


name: Stippling of the epiphysis of the distal phalanx of the 5th finger

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.


Obstipation

description: Obstipation is the inability to pass either stool or flatus (gas).


Kerion

description: Kerion is an erythematous, boggy, tender, often sterile, weeping nodule or plaque with pustules and draining sinuses. Hair in these areas appears lusterless, brittle, and is easily plucked. Kerion can be solitary or multiple but is usually unilateral. Patients with inflammatory tinea barbae may have constitutional symptoms like fever and malaise. Kerion is a coalesced sterile pustule, but occasionally they can get superinfected with cutaneous bacteria and develop regional lymphadenopathy.


Abnormality of the hairline

description: The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.


Abnormality of the breast

description: An abnormality of the breast.


Abnormal uvula morphology

description: Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.


Abnormal corpus cavernosum morphology

description: A structural anomaly of the corpus cavernosum, the erectile tissue of the penis.


Mobitz type II atrioventricular block

description: A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)


Bicoronal synostosis

description: Synostosis affecting the right and the left coronal suture.


Bilateral renal atrophy

description: A two-sided form of atrophy of the kidney.


respiratory tract neoplasm

description: A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.


name: Separate origin of the left anterior descending and left circumflex artery

description: Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).