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

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

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


triatrial heart

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

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


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


cranial nerve palsy

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


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

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


EEG with continuous slow activity

description: EEG showing diffuse slowing without interruption.


Prominent digit pad

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


Abnormal pancreatic duct morphology

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


Trichoschisis

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


Gastrostomy tube feeding in infancy

description: Feeding problem necessitating gastrostomy tube feeding.


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.


1-4 finger syndactyly

description: Syndactyly with fusion of fingers one to four.


Spinal epidural abscess

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


name: Aplasia of the distal phalanx of the hallux


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.


name: Increased circulating isovaleric acid concentration

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


Clouston syndrome

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


Gallbladder wall thickening

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


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

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


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.


argininosuccinic aciduria

description: Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.


Ivory epiphyses of the 4th finger

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


Abnormal hypnopompia

description: Abnormal transition of consciousness from sleeping to wakefulness.


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

description: Partial duplication of proximal phalanx of third toe.


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.


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


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.


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


Addictive video game use

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


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.


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.


Curved middle phalanx of the 3rd toe

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


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.


name: Triangular epiphysis of the distal phalanx of the hallux


Hypnagogic sleep paralysis

description: Sleep paralysis that occurs when falling asleep.


Decreased serum leptin

description: A decreased concentration of leptin in the blood.


Lichenification

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


Delayed fine motor development

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


Osteolysis involving tarsal bones

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


name: Renal arteriole intima/media liquefactive necrosis

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


name: Elevated circulating C5 acylcarnitine concentration

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


Anti-21-hydroxylase antibody positivity

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


name: Abnormal left ventricular ejection fraction

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


Ineffective esophageal peristalsis

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


Abnormal talus morphology

description: An abnormality of the talus.


Abnormal blood sodium concentration

description: An abnormal concentration of sodium.


Moderate oligozoospermia

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


name: Focal sensory seizure with somatosensory features

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


Anti-Amphiphysin antibody

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


Dysgenesis of the cerebellar vermis

description: Defective development of the vermis of cerebellum.


name: Stippling of the epiphyses of the 2nd toe

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


Constitutional symptom

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


dental abscess

description: A tooth disease characterized by a localized collection of pus associated with a tooth.


Reduced euglobulin clot lysis time

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


Delayed recoil upon stretching of skin

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


name: Reduced criculating stearoylcarnitine concentration

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


name: Increased circulating inhibin B concentration

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


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

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


Lumbar hyperlordosis

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


Exercise intolerance

description: A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.


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.


verrucous nevus

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


Ulnar radial head dislocation

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


Increased anti-egg IgE antibody level

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


name: Symmetric spinal nerve root neurofibromas

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


Morgagni-Stewart-Morel syndrome

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


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


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

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


Pigment incontinence

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


Periorbital hyperpigmentation

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


Abnormal soft palate morphology

description: An abnormality of the soft palate.


Battle sign

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


CSF lymphocytic pleiocytosis

description: An increased lymphocyte count in the cerebrospinal fluid.


Abnormal biliary tract physiology

description: A functional abnormality of the biliary tree.


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


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).


name: mitochondrial trifunctional protein deficiency

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


Transient decreased circulating IgG1

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


Third cranial nerve thickening

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


name: Elevated circulating oxalate concentration

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


Neoplasm of the nail

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


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


angiolipoma

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


Aortic root aneurysm

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


hypophosphatemic rickets

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


Aggression towards others

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


Abnormal PR segment

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


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

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


Fetal chylothorax

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


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


Orbital rhabdomyosarcoma

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


ovarian fibroma

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


Symmetric polyarthritis

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


Abnormal pineal volume

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


name: Subepithelial glomerular basement membrane electron dense deposits

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


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.


Bilateral tonic-clonic seizure

description: A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.


Multiple cutaneous leiomyomas

description: The presence of multiple leiomyomas of the skin.


name: Nonfunctional or atypical use of objects in play

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


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.


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


Lip cyanosis

description: Bluish discoloration of the lips.


myoglobinuria, recurrent

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


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


name: Anti-Kelch like protein 11 antibody positivity

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


pelvic lipomatosis

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


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.


classic phenylketonuria

description: Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.


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.


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.


acral lentiginous melanoma

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


name: Unilateral conductive hearing impairment


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.


Cerebral atrophy

description: Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.


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


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

description: Partial duplication of proximal phalanx of second toe.


Clinodactyly of the 3rd toe

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


Flexion contracture of the 2nd toe

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


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: familial thoracic aortic aneurysm and aortic dissection

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


name: Decreased CSF 5-hydroxyindolacetic acid concentration

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


Thickened superior cerebellar peduncle

description: Increased width of the superior cerebellar peduncle.


Glomerular fibrin thrombus

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


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.


polydactyly of a triphalangeal thumb

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


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

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


Terminal insomnia

description: A type of insomnia characterized by waking up too early in the morning is known as early morning awakening. The termination of sleep must occur at least 30 minutes before the desired time.


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


name: Posterior predominant thick cortex pachygyria

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


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.


Increased fecal calprotectin level

description: An increased amount of calprotectin in the feces.


Oral-pharyngeal dysphagia

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


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.


preeclampsia/eclampsia 1

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


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.


Linear atelectasis

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


Infantile spasms

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


EEG with photoparoxysmal response

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


Crypt hyperplasia

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


name: Bracket epiphysis of the distal phalanx of the hallux

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


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.


name: solitary median maxillary central incisor syndrome

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


Increased radioactive iodine uptake

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


paroxysmal dystonia

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


secretory component deficiency

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


name: Abnormal morphology of phalanx of the 2nd toe

description: An anomaly of a phalanx of second toe.


name: Abnormal circulating pyruvate family amino acid concentration

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


name: Focal aware cognitive seizure with dissociation

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


Percussion myotonia

description: A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).


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.


name: Aplasia/Hypoplasia of the abdominal wall musculature

description: Absence or underdevelopment of the abdominal musculature.


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.


Abnormal toe morphology

description: An anomaly of a toe.


name: Focal impaired awareness cognitive seizure with dyscalculia/acalculia

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


name: Abnormal circulating organic amino compound concentration

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


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


head and neck paraganglioma

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


name: Irregular epiphysis of the proximal phalanx of the hallux


Abnormality of the vertebral column

description: Any abnormality of the vertebral column.


name: Arcuate artery intima/media granulomatous arteriitis

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


Regional right ventricular hypokinesis

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


Glomerular obsolescence

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


name: Impairment of activities of daily living

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


name: Abnormal respiratory motile cilium physiology

description: Any functional anomaly of the respiratory motile cilia.


Ureteral stenosis

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


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


Apical hypertrophic cardiomyopathy

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


name: Abnormal metatarsal epiphysis morphology

description: Any abnormality of a metatarsal bone epiphysis.


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: congenital total pulmonary venous return anomaly

description: Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.


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.


periventricular nodular heterotopia

description: Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.


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.


name: Triangular shaped proximal phalanx of the hallux


hyperglycinuria

description: An increased concentration of glycine in the urine.


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.


name: pretibial dystrophic epidermolysis bullosa

description: Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.


Obstipation

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


Decreased adipose tissue

description: A decrease in the amount of adipose tissue.


name: Abnormality of the second metatarsal bone


Head-banging

description: Habitual striking of one's own head against a surface such as a mattress or wall of a crib.


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.


Chylolymphatic mesenteric cyst

description: A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid.


Abnormality of the breast

description: An abnormality of the breast.


phosphohydroxylysinuria

description: An elevated concentration of phosphohydroxylysine in the urine.


Abnormal uvula morphology

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


High-pitched bowel sounds

description: Abnormal bowel sounds of an unually high frequency.


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.


Curved middle toe phalanx

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


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).


Foam cells

description: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.


name: Recurrent upper respiratory tract infections

description: An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).


Brain parenchymal tuberculoma

description: Tuberculoma results from hematogenous spread of Mycobacterium tuberculosis (M. tb) from an extracranial source. Diagnosis is based on computed tomography (CT) scan and magnetic resonance imaging (MRI) studies with a similar ring-enhancing lesion.


Abnormal ureter physiology

description: A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.


Nuchal cord

description: A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.


Abasia

description: A severe form of gait ataxia such that an affected person cannot walk at all.


solitary bone cyst

description: A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.


Low-frequency hearing loss

description: A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).


Tracheal hemorrhage

description: Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy.


Obsessive-compulsive trait

description: The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.


name: Abnormal circulating hepcidin concentration

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


name: Focal impaired awareness motor seizure with negative myoclonus

description: A focal motor seizure with negative myoclonus characterized by impairment of awareness at some point during the seizure.


name: Increased circulating free T4 concentration

description: An elevated concentration of free thyroxine (fT4) in the blood circulation.


name: Abnormal blood monovalent inorganic cation concentration

description: An abnormality of monovalent inorganic cation homeostasis.


Stereotypical hand wringing

description: Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement.


Abnormal VLDL cholesterol concentration

description: Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.


name: Elevated circulating 2-hydroxybutyric acid concentration

description: Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.


cryofibrinogenemia

description: Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin.


Angular cheilitis

description: A type of inflammation of the lips involving one or both of the corners of the mouth.


name: Abnormal serum bicarbonate concentration

description: Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.


name: Leydig cell insensitivity to gonadotropin


name: Decreased serum insulin-like growth factor 1

description: A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.


Neutrophilic urticarial dermatosis

description: A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.


Spina bifida occulta at S1

description: The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.


name: Decreased amyloid beta 42 peptide CSF concentration

description: A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).


Abnormal synovial membrane morphology

description: Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products.


Infection due to encapsulated bacteria

description: An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines.


name: Anti-tyrosyl-tRNA synthetase antibody positivity

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


Involuntary movements

description: Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.


Ambiguous genitalia, female

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


name: Smoker-inclusions in alveolar macrophages

description: In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.


Livedo racemosa

description: Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.


Arcuate artery intima/media arteriitis

description: Inflammation of the inner or middle layer of the arcuate arteries of the kidney.


name: Recurrent upper and lower respiratory tract infections

description: Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.


hyper-beta-alaninemia

description: Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.


Paroxysmal vertigo

description: Paroxysmal episodes of vertigo.


name: Renal tubular cytomegalovirus inclusions

description: Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.


Diaphragmatic paralysis

description: The presence of a paralyzed diaphragm.


name: Anomalous origin of one pulmonary artery from ascending aorta

description: Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.


name: Pigmentation anomalies of sun-exposed skin


prolactin deficiency, isolated

description: Subnormal concentration of prolactin.


Abnormal superior vena cava morphology

description: Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.


Bronchial artery dilatation

description: Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.


name: Patchy sclerosis of the distal phalanx of the thumb

description: An uneven increase in bone density of the distal phalanx of the thumb.


Ileal ulcer

description: An erosion of the mucous membrane in a portion of the ileum.


name: Functional abnormality of the gastrointestinal tract

description: Abnormal functionality of the gastrointestinal tract.


Bilateral facial palsy

description: Two-sided or bilateral weakness of the muscles of facial expression and eye closure.


name: Abnormality of the musculoskeletal system

description: An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.


Excessive interest in others

description: A strong desire to interact and engage with others that is perceived to be inappropriate or excessive in the context of cultural norms.


Abnormal platelet function

description: Any anomaly in the function of thrombocytes.


name: Increased circulating creatine kinase BB isoform

description: An increased concentration of the BB isoform of creatine kinase in the blood circulation.


name: Elevated urine 3-methyl-2-oxovaleric acid level

description: Increased amount of 3-methyl-2-oxovaleric acid in the urine.


name: Elevated urinary ureidopropionic acid level

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


Growth delay

description: A deficiency or slowing down of growth pre- and postnatally.


name: Abnormal circulating vitamin B6 concentration

description: An abnormal concentration of vitamin B6 in the blood circulation.


name: Anti-phenylalanyl tRNA synthetase antibody positivity

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


name: Anti-coagulation factor antibody positivity

description: The presence of an antibody in the blood circulation that is directed against a coagulation factor.


Abnormal esophagus physiology

description: Any physiological abnormality of the esophagus.


Hyperimidodipeptiduria

description: Elevated levels of proline-containing dipeptides in urine.


Poor conversational reciprocity

description: Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level.


description: A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.


Neonatal seizure

description: A seizure occurring within the neonatal period (28 days beyond the full term date).


Tubo-ovarian abscess

description: A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease.


Abnormal corticospinal tract morphology

description: Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.


Elevated urinary 3-hydroxybutyric acid

description: An increased amount of 3-hydroxybutyric acid in the urine.


EEG with central focal spikes

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


name: Arcuate vein medial/intimal liquefactive necrosis

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


Focal motor seizure with dystonia

description: A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.


Mucus plug

description: Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection.


Aplasia/Hypoplasia of the sweat glands

description: Absence or developmental hypoplasia of the sweat glands.


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


Patchy hypopigmentation of hair

description: Reduced pigmentation of hair in patches.


Generalized weakness of limb muscles

description: Generalized weakness of the muscles of the arms and legs.


Aortic arch calcification

description: Calcification, that is, pathological deposition of calcium salts in the arch of aorta.


Glomerular subendothelial widening

description: Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.


Prolonged partial thromboplastin time

description: Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.


Increased serum leptin

description: An increased concentration of leptin in the blood.


name: Anti-islet antigen-2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.


cafe au lait spots, multiple

description: A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.


Immotile sperm

description: A lack of mobility of ejaculated sperm.


Orange discolored tonsils

description: A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.


non-infectious meningitis

description: Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines.


Anti-prothrombin antibody positivity

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


Abnormal cardiac exercise stress test

description: Abnormal results of exercise on heart function.


name: Metacarpal diaphyseal endosteal sclerosis

description: Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.


name: Triangular shaped distal phalanges of the toes


Congenital palmoplantar hyperkeratosis

description: Abnormal thickening of the skin on the palms and soles that is present at birth.


Perivascular dermis hyaline deposition

description: Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the dermis layer of the skin.


name: Linear C3 deposits along the epidermal basement membrane zone

description: Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


Abnormal circulating osteocalcin level

description: A deviation from the normal concentration of osteocalcin in the blood circulation.


Aplasia/Hypoplasia of the gallbladder

description: Absence or underdevelopment of the gallbladder.


Portosystemic collateral veins

description: Presence of biliary veins that serve as a collateral channel to the systemic circulation


Recurrent sinopulmonary infections

description: An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.


name: Sclerosis of the proximal phalanx of the 3rd finger


name: Elevated circulating hepatic transaminase concentration

description: Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.


name: Abnormal circulating citrulline concentration

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


Unusual infection

description: A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.


name: Decreased circulating hepcidin concentration

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


nasal bones, absence of

description: Absence of the nasal bone.


Interstitial cardiac fibrosis

description: A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.


name: short stature due to primary acid-labile subunit deficiency

description: Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.


name: Abnormal circulating proteinogenic amino acid concentration

description: An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.


Membranous subvalvular aortic stenosis

description: Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.


Cerebellar glioma

description: A glioma affecting the cerebellum.


Spinal dysraphism

description: A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.


Abnormal facial skeleton morphology

description: An abnormality of one or more of the set of bones that make up the facial skeleton.


2-3 finger syndactyly

description: Syndactyly with fusion of fingers two and three.


Respiratory insufficiency

description: Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.


Abnormal substantia nigra morphology

description: A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry.


name: Decreased specific antibody response to protein vaccine

description: A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.


Cardiac fibroma

description: A fibroma of the heart.


name: Hypoplastic posterior communicating artery

description: A developmental anomnaly characterized by underdevelopment of the posterior communicating artery.


Abnormality of cranial sutures

description: Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.


name: Stippling of the epiphyses of the hallux

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


Cervical agenesis

description: Congenital absence of the uterine cervix.


Bacterial encephalitis

description: Encephalitis caused by bacterial infection.


Focal cortical dysplasia type IIIc

description: A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).


Calcium nephrolithiasis

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


Cold-sensitive myotonia

description: An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.


Shoulder extension contracture

description: Lack of the full expected passive range of flexion of the shoulder joint (Shoulder flexion puts the arms from a resting position at one's sides to straight above the head; thus, with shoulder extension contracture it is not possible to raise the arms above the head fully).


Myoclonic absence status epilepticus

description: Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.


Fine hair

description: Hair that is fine or thin to the touch.


Aggression toward non-caregivers

description: Aggression that is directed towards non-caregivers.