Cortical sclerosis

description: Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.


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

description: Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.


Fractured rib

description: A partial or complete breakage of the rib.


name: Abnormality of the brachial nerve plexus

description: Any abnormality of the brachial nerve plexus.


Spinal hypomyelination

description: Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis.


Abnormality of the anus

description: Abnormality of the anal canal.


porencephaly

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

description: Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric gray matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.


name: Stippling of the epiphysis of the proximal phalanx of the hallux

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


Abnormal cartilage morphology

description: Any morphological abnormality of cartilage.


Hamartomatous stomach polyps

description: Polyp-like protrusions which are histologically hamartomas located in the stomach.


Hypervigilance

description: A heightened alertness is characterized by a broad awareness and/or excessive scanning of environmental stimuli.


Venous occlusion

description: Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.


Podocyte foot process effacement

description: An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.


Echogenic intracardiac focus

description: A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.


Podocyte hypertrophy

description: Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.


Tubulointerstitial fungal infiltration

description: Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.


name: Fractured proximal epiphysis of middle phalanx of manual digit 3

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


name: Decreased specific antibody response to vaccination

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


Distal upper limb amyotrophy

description: Muscular atrophy of distal arm muscles.


Intracranial arterial calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).


Anti-Tr/DNER antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.


Moderate albuminuria

description: The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol).


Abnormal thalamic size

description: Deviation from the normal range of size of the thalamus.


Ski jump nail

description: Nails that slope upward at the free edge.


Premature occlusive vascular stenosis

description: Peripheral arterial stenosis with onset before the age of 50 years.


Abnormal ductus choledochus morphology

description: An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.


Abnormal plantar dermatoglyphics

description: An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.


Steppage gait

description: An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.


Microdontia of primary teeth

description: Decreased size of the primary teeth.


Pulmonary mass

description: A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).


name: Elevated circulating DNAJB9 protein concentration

description: Concentration of DnaJ homolog subfamily B member 9 (DNAJB9) in the blood circulation above the upper limit of normal.


Lip freckle

description: Increased focal pigmentation of the vermilion of the lips.


name: Anti-von Willebrand factor antibody positivity

description: The presence of autoantibodies in the serum that react to von Willebrand factor (VWF).


Abnormal scrotal rugation

description: Anomaly of the folded ridges (wrinkles) of skin of the scrotum.


name: Focal cognitive seizure with auditory agnosia

description: A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.


Cutaneous macular amyloidosis

description: A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance.


Cerebral venous sinus thrombosis

description: An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses.


Anti-GD1b antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


Hyperxanthinemia

description: An increased level of xanthine in the blood circulation.


Biliary epithelial hyperplasia

description: Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.


Intralobar nephroblastomatosis

description: Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).


name: Febrile seizure outside the age of 3 months to 6 years

description: Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.


Abnormal glucose homeostasis

description: Abnormality of glucose homeostasis.


Delayed onset bleeding

description: Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.


Abnormal circulating estrogen level

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


Lingual dystonia

description: Involuntary protrusions, movements, spams and contortions of the tongue.


name: Blunted aldosterone response to aldosterone suppression test

description: A non-suppressible aldosterone excess, defined as an abnormal result of one of any four suppression tests. These tests use oral sodium loading, oral fludrocortisone, oral captopril, or saline infusion to suppress aldosterone secretion.


Basal ganglia edema

description: Swelling within the basal ganglia due to the accumulation of fluid.


Foot oligodactyly

description: A developmental defect resulting in the presence of fewer than the normal number of toes.


Abnormal hindbrain morphology

description: An abnormality of the hindbrain, also known as the rhombencephalon.


Abnormal lower lip morphology

description: An abnormality of the lower lip.


Abnormality of the sense of smell

description: An anomaly in the ability to perceive and distinguish scents (odors).


Fractured fused sacrum

description: A partial or complete breakage of the fused sacrum.


Subclavian artery stenosis

description: Abnormal narrowing of the subclavian artery.


name: High renal tubular epithelial cell N/C ratio

description: At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.


Disseminated cutaneous warts

description: Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.


Elevated cancer Ag 19-9 level

description: An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.


Gingival cleft

description: A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.


Hypoplasia of the maxilla

description: Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.


Abnormal CSF aspartate concentration

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


Renal necrosis

description: Cell death (necrosis) affecting one or more parts of the kidney.


Reduced radioactive iodine uptake

description: A decreased 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.


Chronic (near) absent circulating IgG4

description: A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.


alopecia totalis

description: Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.


Absent pigmentation of chest

description: Lack of skin pigmentation (coloring) of the chest.


Fetal anemia

description: Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery.


Biceps hyporeflexia

description: Reduced intensity of the biceps tendon reflex.


Non-pitting edema

description: Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function.


name: Decreased circulating membrane cofactor protein concentration

description: Concentration of membrane cofactor protein in the blood circulation below the lower limit of normal.


Focal bilateral motor seizure

description: A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.


Arthralgia of the hip

description: Joint pain affecting the hip.


Arcuate artery intraluminal thrombi

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


Focal aware tonic seizure

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


name: Apical hypertrabeculation of the left ventricle

description: An increased number and density of the trabeculae in the apex (tip) of the left ventricle.


Neoplasm of fatty tissue

description: A tumor (abnormal growth of tissue) of adipose tissue.


Basal ganglia calcification

description: The presence of calcium deposition affecting one or more structures of the basal ganglia.


Adrenal gland dysgenesis

description: Abnormal development of the adrenal gland.


Sclerosis of middle toe phalanx

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


Limb joint contracture

description: A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.


name: Cortical radial artery leukocyte hypercellularity

description: A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).


name: Buried teeth encased in mucopolysaccharide


Bilateral superior vena cava

description: The presence of a left and a right superior vena cava.


name: Absent sperm axoneme central pair complex

description: Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.


Minifascicle formation

description: A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.


name: Abnormal circulating phytanic acid concentration

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


name: Chronic partially decreased circulating IgG4

description: A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood.


hemopericardium

description: An accumulation of blood within the pericardial sac.


Increased fetal movement

description: An abnormal increase in quantity or strength of fetal movements.


Euthyroid goiter

description: A goiter that is not associated with functional thyroid abnormalities.


Severe muscular hypotonia

description: A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.


Paradoxical myotonia

description: A type of myotonia that worsens with repeated muscle contractions.


Poliosis

description: Circumscribed depigmentation of the hair of the head or the eyelashes.


Fractured mandible

description: A partial or complete breakage of the mandible.


Increased circulating osteocalcin level

description: An elevated level of osteocalcin in the blood.


Excessive checking

description: Checking behavior that is excessive for the situational context.


Incisor macrodontia

description: Increased size of the incisor tooth.


name: Ivory epiphysis of the distal phalanx of the hallux


name: Decreased amplitude of sensory action potentials

description: A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.


name: Reduced left ventricular ejection fraction

description: A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.


Curved proximal phalanx of the 4th toe

description: A deviation from the normal straight form of the proximal phalanx of the fourth toe.


name: Abnormal circulating ceruloplasmin concentration

description: Any deviation of the concentration of ceruloplasmin in the blood from the normal range.


Ectopic anterior pituitary gland

description: Abnormal anatomic location of the anterior pituitary gland.


name: Increased urinary high-mannose-type oligosaccharide

description: An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.


name: Infantile sensorineural hearing impairment

description: A form of sensorineural hearing impairment with infantile onset.


Cervical cord compression

description: Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.


B Acute Lymphoblastic Leukemia

description: A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.


name: Activating thyroid-stimulating hormone receptor defect

description: Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.


name: Anti-thrombospondin type I domain-containing 7A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thrombospondin type I domain-containing 7A.


name: Elevated circulating acetoacetic acid concentration

description: An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.


name: Decreased CSF metanephrine concentration

description: Concentration of metanephrine in the cerebrospinal fluid below the lower limit of normal.


name: Lymphocytic infiltration of the parotid gland

description: Accumulation of lymphocytes in the parotid gland. This feature is generally defined as a count of lymphocytes per area that is above normal limits on histopathological examination.


Juvenile gastrointestinal polyposis

description: The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.


Vestibular sensory seeking

description: Pursuit of vestibular stimulation that is abnormal in intensity and/or frequency.


name: Abnormal gonadotropin-releasing hormone concentration

description: A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).


Unlayered lissencephaly

description: A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter.


Giant cell hepatitis

description: Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.


Salivary basal cell adenoma

description: A rare neoplasm consisting of a monomorphic population of basaloid epithelial cells, and it accounts for approximately 1-2% of all salivary gland tumors.


Mild intrauterine growth retardation

description: Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.


name: Abnormal nervous system electrophysiology

description: An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.


Difficulty walking backward

description: Reduced ability to walk (ambulate) in a backwards direction.


Grandiose delusion

description: False beliefs relating to origin (aristocratic lineage, royal birth, being raised as a foster child), possessions (owning vast estates, castles, etc., which are withheld through intrigue), abilities (being great inventors, discoverers, artists, possessors of special wisdom, gifted with inspiration), and status (adviser to prominent diplomats, the true director of political destinies).


name: Reduced circulating leukotriene C4 concentration

description: An abnormally decreased concentration of leukotriene C4 in the blood circulation.


Tracheobronchomalacia

description: Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.


Hydropic placenta

description: An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.


Postductal coarctation of the aorta

description: Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.


name: Elevated circulating butyrylcarnitine concentration

description: Concentration of O-butyrylcarnitine in the blood circulation above the upper limit of normal.


Abnormal cardiac MRI

description: Abnormal results of a MRI for the heart.


Perioral eczema

description: A type of eczema that occurs in the lips and perioral area.


Positive Romberg sign

description: The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.


Abnormal bulbus cordis morphology

description: Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.


Infection-associated lymphopenia

description: Decreased lymphocyte count during infections.


Severe albuminuria

description: The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol).


name: Elevated CSF glial fibrillary acidic protein concentration

description: Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.


Sclerosis of 5th finger phalanx

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


Placenta increta

description: Abnormal placental pentration into but not beyond the uterine wall.


Blistering by anatomical location

description: Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.


name: Ivory epiphysis of the proximal phalanx of the 2nd finger


Hypolysinemia

description: A decreased amount of lysine in the blood.


Giant melanosomes in melanocytes

description: The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.


name: Increased neuronal autofluorescent lipopigment

description: Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


name: Hypointensity of cerebral white matter on MRI

description: A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.


Focal lissencephaly

description: A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.


Abnormal cerebellar peduncle morphology

description: An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.


Incomplete unilateral cleft lip

description: Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity.


Hostility

description: Persistent or frequent feelings of anger; anger or irritability in response to minor slights and insults.


Persistent patent ductus venosus

description: Persistence of blood flow through the ductus venosus for longer than the normal time after birth.


Shawl scrotum

description: Superior margin of the scrotum superior to the base of the penis.


name: Elevated circulating 3-methylhistidine concentration

description: Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.


Elevated urinary sulfatide level

description: The amount of sulfatides in the urine, normalized for urine concentration, is above the upper limit of normal. Sulfatides are derived from GalCer via esterification of a sulfate group to 3-hydroxyl of the galactose moiety.


Meconium stained amniotic fluid

description: Amniotic fluid containing the earliest stools of a mammalian infant.


Ivory epiphyses of the 5th finger

description: Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: Anti-Su antigen/argonaute 2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2.


Positive perchlorate discharge test

description: An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.


name: Abnormal platelet dense granule secretion

description: Abnormal release of dense granules from platelets.


Spinal meningeal diverticulum

description: An outpouching of the spinal meninges.


name: Anti-Kelch like protein 12 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12.


Pancreatic atrophy

description: Wasting (shrinking) of the pancreas.


Abnormality of the female genitalia

description: Abnormality of the female genital system.


Chronic colitis

description: A chronic inflammatory disease of the large intestine (colon, cecum and rectum).


Hypoglutamatemia

description: A decreased amount of glutamate in the blood.


Cutaneous abscess

description: A circumscribed area of pus or necrotic debris in the skin.


Curved 5th toe phalanx

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


name: Abnormal circulating free T4 concentration

description: A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.


Mesangial cell loss

description: Loss of mesangial cells segmentally or globally.


Subcortical dementia

description: A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.


Single-lobed right lung

description: A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes.


name: Patchy reduction of bone mineral density

description: Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Perineal hypospadias

description: Hypospadias with location of the urethral meatus in the perineal region.


Abnormal blood glucose concentration

description: An abnormality of the concentration of glucose in the blood.


Red urine

description: An abnormal red color of the urine.


Abnormal CSF dopamine concentration

description: Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).


External genital hypoplasia

description: Underdevelopment of part or all of the external reproductive organs.


Coronary arteriovenous fistula

description: An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.


Increased hemoglobin oxygen affinity

description: An abnormal increase in the binding affinity of hemoglobin for oxygen.


Glomerular lipoprotein thrombus

description: Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.


Decreased urinary bile acid level

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


Thin fingernail

description: Fingernail that appears thin when viewed on end.


Decreased urinary 1-methylhistidine

description: Decreased concentration of 1-methylhistidine in the urine.


name: Abnormal glomerular basement membrane texture

description: Anomalous appearance or structure of the surface of the glomerular basement membrane.


Overriding atrioventricular valve

description: An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.


Soft, doughy skin

description: A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.


Open operculum

description: Underdevelopment of the operculum.


carotid body paraganglioma

description: A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck.


description: The presence of autoantibodies in the serum that react to RNA-polymerase III.


name: Increased proportion of CD4-positive T cells

description: An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.


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

description: Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Tissue ischemia

description: Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.


description: A type of ichthyosiform erythroderma with postnatal onset.


name: Increased circulating octadecanoate level

description: An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).


Ureteral agenesis

description: Failure of the ureter to undergo development.


Abnormal musculoskeletal physiology

description: An abnormality of the function of the skeletal system.


Mild global developmental delay

description: A mild delay in the achievement of motor or mental milestones in the domains of development of a child.


name: Focal motor seizure with negative myoclonus

description: A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.


posterior urethral valve

description: Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.


Late-onset proximal muscle weakness

description: Lack of strength of the proximal musculature occurring late in the clinical course.


name: Abnormal circulating isoleucine concentration

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


Focal pancreatic islet hyperplasia

description: Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.


name: Decreased circulating methylcobalamin concentration

description: The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12.


Abnormal total iron binding capacity

description: Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.


Spastic paraplegia

description: Spasticity and weakness of the leg and hip muscles.


name: Recurrent loss of toenails and fingernails

description: Repeated loss, or shedding, of the nails of the fingers and toes.


Renal neurofibroma

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


Abnormal rectum morphology

description: An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.


Irregularly spaced teeth

description: Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.


Upper limb pain

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


acroosteolysis

description: A condition that is characterized by degeneration of the distal phalanges.


name: Partial duplication of the proximal phalanx of the 4th toe


Elevated urinary catecholamine level

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


Rectal duplication

description: A developmental anomaly characterized by an additional rectum that is typically lined with intestinal mucosa with one or more cell types of the gastrointestinal tract overlying submucosa and smooth muscle layer.


name: Interlobular vein intima/media amyloidosis

description: Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy


Abnormal pharynx physiology

description: A functional anomaly of the pharynx.


name: Anti-complement component C1q antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q.


Porphyrinuria

description: Abnormally increased excretion of porphyrins in the urine.


name: Amplification of interpersonal communication

description: An increase in the tendency of a person to share information or emotions compared to that person's previous norms.


name: Focal aware motor seizure with negative myoclonus

description: A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.


Abnormal circulating iron concentration

description: The concentration of iron in the blood circulation is outside the limits of normal.


Abnormal hepatic echogenicity

description: Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).


Functional abnormality of the bladder

description: Dysfunction of the urinary bladder.


name: Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection


EMG: myotonic runs

description: Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).


name: Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.


Abnormal hepatocyte morphology

description: A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue.


Colonic varices

description: The presence of varices (enlarged and convoluted blood vessels) in the colon.


Indeterminate ventricular axis

description: A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection.


name: Abnormality of the epiphysis of the proximal phalanx of the 5th toe


Black pigment gallstones

description: A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.


Adrenal hyperplasia

description: Enlargement of the adrenal gland.


Drug-induced anaphylaxis

description: A form of anaphylaxis that is triggered by intake of drugs or medications.


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


Proximal upper limb amyotrophy

description: Muscular atrophy affecting proximally located muscles of the arms.


Perihilar segmental glomerulosclerosis

description: Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule.


hemimegalencephaly

description: Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.


Hypocapnia in cord blood

description: Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.


Abnormal B cell morphology

description: A structural abnormality of B cells.


name: Sclerosis of the distal phalanx of the 5th finger


name: Fractured epiphysis of fourth metacarpal bone

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


camptodactyly of fingers

description: Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.


Seminal vesicle hypoplasia

description: A congenital anomaly characterized by underdevelopment of one or both seminal vesicles, which are the two small glands that store and produce the majority of the fluid that makes up semen.


name: Multiple pulmonary interstitial hyalinized nodules

description: Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.


Glomerular karyhorrhectic debris

description: Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.


Noncompaction cardiomyopathy

description: A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.


Tubularization of Bowman capsule

description: The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.


Serous pericardial effusion

description: Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.


Abnormal palmar dermatoglyphics

description: An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.


name: Prolonged bleeding following circumcision

description: Bleeding that persists for a longer than usual time following circumcision.


name: Decreased urine guanidinoacetic acid level

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


name: Decreased attenuation pattern on pulmonary HRCT

description: Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.


name: Increased proteinogenic amino acid level in urine

description: An elevated level of a proteinogenic amino acid in the urine. 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.


Erythematous papule

description: A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.


Abnormal systemic arterial morphology

description: An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.


name: Abnormal ventricular myocardium morphology

description: A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.


Abnormal parotid gland morphology

description: Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.


Fractured middle phalanx of manus

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


Thumb contracture

description: Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.


name: Fibrotic non-specific interstitial pneumonia

description: A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.


Boot-shaped cardiac silhouette

description: An abnormal form of the heart seen upon chest radiography in which the heart displays an upturned apex and slight concave pulmonary artery segment. This configuration is said to resemble a boot.


Congenital contracture

description: One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.


name: Elevated circulating L-alloisoleucine concentration

description: Abnormally increased concentration of L-alloisoleucine in the blood circulation.


name: Osteolytic defects of the proximal phalanx of the 5th finger

description: Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.


Abnormality of the tarsal bones

description: An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.


Small superior frontal cortex

description: Reduced size of the superior frontal portion of the cerebral cortex.


Deep neck abscess

description: An abscess (i.e., a circumscribed area of pus or necrotic debris) localized in the area surrounded by the deep fascia of the neck including the pharynx, larynx, trachea, upper esophagus, thyroid, and parathyroid glands. Infections of pharyngeal, tonsillar, and laryngeal origin affect this space, which includes the parapharyngeal and retropharyngeal spaces.


Podocyte microvillous transformation

description: Cytoplasmic projections into the urinary space from the luminal side of the podocyte.


Reduced CSF methionine concentration

description: Concentration of methionine in the cerebrospinal fluid below the lower limit of normal.


Frontal cortical atrophy

description: Atrophy of the frontal cortex.


Apocrine hidrocystoma

description: A cystic lesions that forms a benign tumor of an apocrine sweat gland.


name: Anomalous hepatic venous drainage into the left atrium

description: An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.


name: Elevated urinary ureidoisobutyric acid level

description: The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency.


Storage in hepatocytes

description: Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.


Infra-aortic superior vena cava

description: The superior vena cava passes below the aortic arch.


name: Oligoclonal elevation of circulating IgA

description: An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


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


Abnormality of adrenal physiology

description: A functional abnormality of the adrenal glands.


Low plasma citrulline

description: A decreased concentration of citrulline in the blood.


Recurrent bronchitis

description: An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.


name: Elevated circulating insulin:C-peptide ratio

description: Increased ratio of insulin to C-peptide in the blood circulation.


name: Complete duplication of the distal phalanx of the 4th finger

description: Complete duplication of the distal phalanx of ring finger.


Aortic stiffness

description: The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.


Focal undressing automatism seizure

description: A type of focal automatism seizure characterized by involuntary undressing at onset.


Abnormal CSF methionine concentration

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


name: Congenital malformation of the right heart

description: Defect or defects of the morphogenesis of the right heart identifiable at birth.


Generalized microdontia

description: A generalized form of microdontia.


Interrupted aortic arch type B

description: Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.


Agenesis of maxillary premolar

description: Agenesis of maxillary premolar.


Multiple lentigines

description: Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.


Forearm

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


Neurite dystrophy

description: Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins.


Secondary Caesarian section

description: Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.


Atypical behavior

description: Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.


Oral synechia

description: Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.


name: Supraventricular tachycardia with an accessory connection mediated pathway

description: Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.


Fulminant hepatitis

description: Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.


Digital ischemia

description: Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis.


Feculent vomiting

description: Vomiting of material that is of fecal origin.


name: MAM2_ARATH Methylthioalkylmalate synthase 2, chloroplastic (sprot)

description: A protein that is a translation product of the MAM2 gene in Arabidopsis thaliana.


name: O(6)-methylguanine-induced apoptosis 2 isoform h2 (human)

description: An O(6)-methylguanine-induced apoptosis 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5TH74-2.


Diamond-Blackfan anemia 12

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.


protein lap4 isoform E (fruit fly)

A protein lap4 (fruit fly) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7KRY7-4.


name: mu-type opioid receptor isoform m5 (mouse)

description: A mu-type opioid receptor (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42866-5.


name: MUTS_ECOLI DNA mismatch repair protein MutS (sprot)

description: A DNA mismatch repair protein MutS that is encoded in the genome of Escherichia coli K-12.


name: eukaryotic initiation factor 4A-III methylated 1 (human)

description: A eukaryotic initiation factor 4A-III (human) that has been methylated on the residue at the position equivalent to Cys-284 of the amino acid sequence represented by UniProtKB:P38919. UniProtKB:P38919, Cys-284, MOD:00660.


name: LSM3B_ARATH Sm-like protein LSM3B (sprot)

description: A protein that is a translation product of the LSM3B gene in Arabidopsis thaliana.


name: guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 methylated 5 (human)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 (human) that has been methylated on the residue at the position equivalent to Cys-271 of the amino acid sequence represented by UniProtKB:P62873-1. Example: UniProtKB:P62873-1, Cys-271, MOD:00660.


name: FAD-linked sulfhydryl oxidase ALR isoform h2 (human)

description: An FAD-linked sulfhydryl oxidase ALR (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55789-2.


name: NDUS8_MOUSE NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial that is encoded in the genome of mouse.


name: FH1/FH2 domain-containing protein 3 methylated 2 (human)

description: An FH1/FH2 domain-containing protein 3 (human) that has been methylated on the residue at the position equivalent to Cys-668 of the amino acid sequence represented by UniProtKB:Q2V2M9-1. Example: UniProtKB:Q2V2M9-1, Cys-668, MOD:00660.


FH1/FH2 domain-containing protein 3

A protein that is a translation product of the human FHOD3 gene or a 1:1 ortholog thereof.


name: FH1/FH2 domain-containing protein 3 isoform m3 (mouse)

description: An FH1/FH2 domain-containing protein 3 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q76LL6-3.


name: FH1/FH2 domain-containing protein 3 isoform h2 (human)

description: An FH1/FH2 domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q2V2M9-2.


name: FH1/FH2 domain-containing protein 3 isoform FHOS2M

description: An FH1/FH2 domain-containing protein 3 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q76LL6-4 or a 1:1 ortholog thereof.


name: FH1/FH2 domain-containing protein 3 isoform h1 (human)

description: An FH1/FH2 domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q2V2M9-1.


name: FH1/FH2 domain-containing protein 3 isoform FHOS2S (mouse)

description: An FH1/FH2 domain-containing protein 3 isoform FHOS2S that is encoded in the genome of mouse.


name: FH1/FH2 domain-containing protein 3 methylated 1 (human)

description: An FH1/FH2 domain-containing protein 3 (human) that has been methylated on the residue at the position equivalent to Cys-59 of the amino acid sequence represented by UniProtKB:Q2V2M9-1. Example: UniProtKB:Q2V2M9-1, Cys-59, MOD:00660.


name: FH1/FH2 domain-containing protein 3 isoform FHOS2S

description: An FH1/FH2 domain-containing protein 3 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q76LL6-2 or a 1:1 ortholog thereof.


name: FH1/FH2 domain-containing protein 3 isoform FHOS2L

description: An FH1/FH2 domain-containing protein 3 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q76LL6-1 or a 1:1 ortholog thereof.


name: FH1/FH2 domain-containing protein 3 isoform FHOS2L (mouse)

description: An FH1/FH2 domain-containing protein 3 isoform FHOS2L that is encoded in the genome of mouse.


name: FHOD3_MOUSE FH1/FH2 domain-containing protein 3 (sprot)

description: An FH1/FH2 domain-containing protein 3 that is encoded in the genome of mouse.


name: FHOD3_HUMAN FH1/FH2 domain-containing protein 3 (sprot)

description: An FH1/FH2 domain-containing protein 3 that is encoded in the genome of human.


name: FH1/FH2 domain-containing protein 3 isoform FHOS2M (mouse)

description: An FH1/FH2 domain-containing protein 3 isoform FHOS2M that is encoded in the genome of mouse.


name: FH1/FH2 domain-containing protein 3 isoform h3 (human)

description: An FH1/FH2 domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q2V2M9-3.


name: FH1/FH2 domain-containing protein 3 isoform h4 (human)

description: An FH1/FH2 domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q2V2M9-4.


name: transcription factor MYB120 isoform 2 (Arabidopsis thaliana)

description: A transcription factor MYB120 (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q94FL7-2.


name: FBL34_ARATH F-box/LRR-repeat protein At1g67190 (sprot)

description: A protein that is a translation product of the At1g67190 gene in Arabidopsis thaliana.


name: PILR1_ARATH Pinoresinol reductase 1 (sprot)

description: A protein that is a translation product of the PRR1 gene in Arabidopsis thaliana.


name: KTBL1_HUMAN KATNB1-like protein 1 (sprot)

description: A KATNB1-like protein 1 that is encoded in the genome of human.


name: Stage IIIA Gestational Trophoblastic Tumor AJCC v7

description: Stage IIIA includes: Any T, M1a, Risk factors: low risk.  M1a: Lung metastasis.  (AJCC 7th ed.)


name: nucleolar protein dao-5 isoform a (worm)

description: A nucleolar protein dao-5 (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9XVS4-1.


A polyunsaturated fatty acid that is hexadecanoic acid with unsaturation at positions 4, 7, 10 and 13. It is found in Daphnia galeata.


name: ARHGQ_HUMAN Rho guanine nucleotide exchange factor 26 (sprot)

description: A Rho guanine nucleotide exchange factor 26 that is encoded in the genome of human.


name: Rho guanine nucleotide exchange factor 26 isoform h3 (human)

description: A Rho guanine nucleotide exchange factor 26 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96DR7-4.


name: Rho guanine nucleotide exchange factor 26 isoform h1 (human)

description: A Rho guanine nucleotide exchange factor 26 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96DR7-1.


name: Rho guanine nucleotide exchange factor 26 isoform h2 (human)

description: A Rho guanine nucleotide exchange factor 26 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96DR7-3.


name: protein ERGIC-53-like isoform h3 (human)

description: A protein ERGIC-53-like (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HAT1-3.


name: sn1-specific diacylglycerol lipase alpha isoform 1 (rat)

description: A diacylglycerol lipase-alpha isoform 1 that is encoded in the genome of rat.


diacylglycerol lipase-alpha

A protein that is a translation product of the human DAGLA gene or a 1:1 ortholog thereof.


name: DGLA_RAT Diacylglycerol lipase-alpha (sprot)

description: A diacylglycerol lipase-alpha that is encoded in the genome of rat.


name: DGLA_HUMAN Diacylglycerol lipase-alpha (sprot)

description: A diacylglycerol lipase-alpha that is encoded in the genome of human.


name: DGLA_MOUSE Diacylglycerol lipase-alpha (sprot)

description: A diacylglycerol lipase-alpha that is encoded in the genome of mouse.


name: diacylglycerol lipase-alpha isoform 1 (mouse)

description: A diacylglycerol lipase-alpha isoform 1 that is encoded in the genome of mouse.


diacylglycerol lipase-alpha isoform 1

A diacylglycerol lipase-alpha that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6WQJ1-1 or a 1:1 ortholog thereof.


name: CCA tRNA nucleotidyltransferase 1, mitochondrial isoform m2 (mouse)

description: A CCA tRNA nucleotidyltransferase 1, mitochondrial (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8K1J6-2.


name: TRNT1_MOUSE CCA tRNA nucleotidyltransferase 1, mitochondrial (sprot)

description: A CCA tRNA nucleotidyltransferase 1, mitochondrial that is encoded in the genome of mouse.


name: CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1 (mouse)

description: A CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1 that is encoded in the genome of mouse.


name: DLEC1_RAT Deleted in lung and esophageal cancer protein 1 homolog (sprot)

description: A deleted in lung and esophageal cancer protein 1 that is encoded in the genome of rat.


zaragozic acid C

A polyketide isolated from fungi that is a potent inhibitor of fungal and mammalian squalene synthase.


name: Oropharyngeal Cancer pT4b TNM Finding v6

description: Oropharyngeal cancer with tumor invading the lateral pterygoid muscle, pterygoid plates, lateral nasopharynx, or skull base or encases carotid artery. (from AJCC 6th Ed.)


name: immunoglobulin heavy constant alpha 1 N-glycosylated 6 (human)

description: An immunoglobulin heavy constant alpha 1 (human) that has been N-glycosylated at the residue equivalent to Asn-144 of the amino acid sequence represented by UniProtKB:P01876-2, in which the glycan structure is represented by GlyTouCan:G22140GZ. Example: UniProtKB:P01876-2, Asn-144, MOD:00160~GNO:G22140GZ.


TETRANGOMYCIN

An angucycline antibiotic that is 3,4-dihydrotetraphene-1,7,12(2H)-trione substituted by hydroxy groups at positions 3 and 8 and a methyl group at position 3 (the 3R stereoisomer) ring system. It is an antibiotic isolated from Streptomyces sp.


name: dolichol-phosphate mannosyltransferase subunit 3 cysteinylated 1 (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that has been cysteinylated on the residue at the position equivalent to Cys-67 of the amino acid sequence represented by UniProtKB:Q9P2X0-1. Example: UniProtKB:Q9P2X0-1, Cys-67, MOD:00765.


name: dolichol-phosphate mannosyltransferase subunit 3

description: A protein that is a translation product of the human DPM3 gene or a 1:1 ortholog thereof.


name: dolichol-phosphate mannosyltransferase subunit 3 isoform h2 (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9P2X0-2.


name: dolichol-phosphate mannosyltransferase subunit 3 isoform h1 (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9P2X0-1.


name: DPM3_MOUSE Dolichol-phosphate mannosyltransferase subunit 3 (sprot)

description: A dolichol-phosphate mannosyltransferase subunit 3 that is encoded in the genome of mouse.


name: dolichol-phosphate mannosyltransferase subunit 3 methylated 1 (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that has been methylated on the residue at the position equivalent to Cys-67 of the amino acid sequence represented by UniProtKB:Q9P2X0-1. Example: UniProtKB:Q9P2X0-1, Cys-67, MOD:00660.


name: DPM3_CAEEL Probable dolichol-phosphate mannosyltransferase subunit 3 (sprot)

description: A dolichol-phosphate mannosyltransferase subunit 3 that is encoded in the genome of worm.


name: DPM3_HUMAN Dolichol-phosphate mannosyltransferase subunit 3 (sprot)

description: A dolichol-phosphate mannosyltransferase subunit 3 that is encoded in the genome of human.


name: dolichol-phosphate mannosyltransferase subunit 3 sequence variant L85S (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that has a Ser residue at the position equivalent to Leu-85 of the amino acid sequence represented by UniProtKB:Q9P2X0-1. Example: UniProtKB:Q9P2X0-1, Leu-85, CHEBI:29999.


name: DNAA_STAA8 Chromosomal replication initiator protein DnaA (sprot)

description: A chromosomal replication initiator protein DnaA that is encoded in the genome of Staphylococcus aureus subsp. aureus NCTC 8325.


name: BAG5_RAT BAG family molecular chaperone regulator 5 (sprot)

description: A BAG family molecular chaperone regulator 5 that is encoded in the genome of rat.


name: BAG family molecular chaperone regulator 5 isoform 1 (rat)

description: A BAG family molecular chaperone regulator 5 isoform 1 that is encoded in the genome of rat.


uromodulin N-glycosylated 245 (human)

A uromodulin (human) that has been N-glycosylated at the residue equivalent to Asn-396 of the amino acid sequence represented by UniProtKB:P07911-1, in which the glycan structure is represented by GlyTouCan:G92974UU. Example: UniProtKB:P07911-1, Asn-396, MOD:00160~GNO:G92974UU.


A very long-chain omega-3 fatty acid that is hexacosanoic acid having five double bonds located at positions 11, 14, 17, 20, 23 (the 11Z,14Z,17Z,20Z,23Z-isomer).


Transient neonatal pustulosis

description: A benign, self-limited eruption of vesicles, pustules and macules seen in newborns. The fluid-filled lesions typically rupture and resolve within 48 hours while the macular lesions may persist for months.


name: ISDB_STAAR Iron-regulated surface determinant protein B (sprot)

description: An iron-regulated surface determinant protein B that is encoded in the genome of Staphylococcus aureus subsp. aureus MRSA252.


name: trafficking protein particle complex subunit 13 isoform h1 (human)

description: A trafficking protein particle complex subunit 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A5PLN9-1.


name: TPC13_HUMAN Trafficking protein particle complex subunit 13 (sprot)

description: A trafficking protein particle complex subunit 13 that is encoded in the genome of human.


name: trafficking protein particle complex subunit 13 isoform h3 (human)

description: A trafficking protein particle complex subunit 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A5PLN9-4.


name: trafficking protein particle complex subunit 13 isoform h5 (human)

description: A trafficking protein particle complex subunit 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A5PLN9-7.


name: trafficking protein particle complex subunit 13 isoform h2 (human)

description: A trafficking protein particle complex subunit 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A5PLN9-2.


name: trafficking protein particle complex subunit 13 isoform h4 (human)

description: A trafficking protein particle complex subunit 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A5PLN9-5.


name: O-phosphoseryl-tRNA(Sec) selenium transferase isoform h2 (human)

description: An O-phosphoseryl-tRNA(Sec) selenium transferase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HD40-2.


carboxylesterase 5A isoform h4 (human)

A carboxylesterase 5A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6NT32-4.


name: ataxin-2-like protein phosphorylated 2 (human)

description: An ataxin-2-like protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-306 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Ser-306, MOD:00046.


ataxin-2-like protein

A protein that is a translation product of the human ATXN2L gene or a 1:1 ortholog thereof.


name: ataxin-2-like protein phosphorylated 3 (human)

description: An ataxin-2-like protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-305 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Ser-305, MOD:00046.


name: ataxin-2-like protein isoform h6 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-6.


name: ataxin-2-like protein isoform m3 (mouse)

description: An ataxin-2-like protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7TQH0-3.


name: ataxin-2-like protein isoform h8 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-8.


name: ataxin-2-like protein isoform m2 (mouse)

description: An ataxin-2-like protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7TQH0-2.


name: ataxin-2-like protein deaminated 1 (human)

description: An ataxin-2-like protein (human) that has been deaminated on the residue at the position equivalent to Gln-716 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Gln-716, MOD:00685.


name: ataxin-2-like protein isoform m1 (mouse)

description: An ataxin-2-like protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7TQH0-1.


name: ataxin-2-like protein isoform h2 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-2.


name: ataxin-2-like protein isoform h5 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-5.


name: ataxin-2-like protein isoform h3 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-3.


name: ataxin-2-like protein phosphorylated 4 (human)

description: An ataxin-2-like protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-496 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Ser-496, MOD:00046.


name: ataxin-2-like protein methylated 2 (human)

description: An ataxin-2-like protein (human) that has been methylated on the residue at the position equivalent to Cys-135 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Cys-135, MOD:00660.


name: ataxin-2-like protein methylated 1 (human)

description: An ataxin-2-like protein (human) that has been methylated on the residue at the position equivalent to Cys-58 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Cys-58, MOD:00660.


name: ataxin-2-like protein deaminated 2 (human)

description: An ataxin-2-like protein (human) that has been deaminated on the residue at the position equivalent to Gln-308 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Gln-308, MOD:00685.


name: ataxin-2-like protein methylated 3 (human)

description: An ataxin-2-like protein (human) that has been methylated on the residue at the position equivalent to Arg-417 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Arg-417, MOD:00658.


name: ataxin-2-like protein isoform h9 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-9.


name: ataxin-2-like protein isoform h1 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-1.


name: ATX2L_HUMAN Ataxin-2-like protein (sprot)

description: An ataxin-2-like protein that is encoded in the genome of human.


ataxin-2 homolog isoform c (worm)

An ataxin-2 homolog (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:G5ED29-3.


ataxin-2 homolog isoform b (worm)

An ataxin-2 homolog (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:G5ED29-2.


name: ataxin-2-like protein isoform h7 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-7.


ATX2_CAEEL Ataxin-2 homolog (sprot)

An ataxin-2-like protein that is encoded in the genome of worm.


name: ataxin-2-like protein deaminated 3 (human)

description: An ataxin-2-like protein (human) that has been deaminated on the residue at the position equivalent to Asn-263 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Asn-263, MOD:00684.


name: ataxin-2-like protein isoform h4 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-4.


name: ATX2L_MOUSE Ataxin-2-like protein (sprot)

description: An ataxin-2-like protein that is encoded in the genome of mouse.


ataxin-2 homolog isoform a (worm)

An ataxin-2 homolog (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:G5ED29-1.


A nitramine that is N,N-bis(2-hydroxypropyl)nitrosamine in which the nitroso group has undergone formal oxidation to the corresponding nitro group. A potent pancreatic carcinogen.


permanent congenital hypothyroidism

description: Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.


peripheral hypothyroidism

description: Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.


name: hypothyroidism due to deficient transcription factors involved in pituitary development or function

description: Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.


congenital nongoitrous hypothyroidism 6

description: Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.


name: peripheral resistance to thyroid hormones

description: Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.


name: hypothyroidism, congenital, nongoitrous, 7


congenital nongoitrous hypothyroidism 3

description: A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.


name: X-linked central congenital hypothyroidism with late-onset testicular enlargement

description: An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.


name: sperm flagellar protein 2 isoform 3 (rat)

description: A sperm flagellar protein 2 isoform 3 that is encoded in the genome of rat.


sperm flagellar protein 2

A protein that is a translation product of the human SPEF2 gene or a 1:1 ortholog thereof.


name: sperm flagellar protein 2 isoform m4 (mouse)

description: A sperm flagellar protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8C9J3-4.


name: sperm flagellar protein 2 isoform r1 (rat)

description: A sperm flagellar protein 2 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9R095-1.


name: SPEF2_RAT Sperm flagellar protein 2 (sprot)

description: A sperm flagellar protein 2 that is encoded in the genome of rat.


sperm flagellar protein 2 isoform 3

A sperm flagellar protein 2 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9C093-3 or a 1:1 ortholog thereof.


name: SPEF2_MOUSE Sperm flagellar protein 2 (sprot)

description: A sperm flagellar protein 2 that is encoded in the genome of mouse.


name: sperm flagellar protein 2 isoform r2 (rat)

description: A sperm flagellar protein 2 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9R095-2.


name: sperm flagellar protein 2 isoform h2 (human)

description: A sperm flagellar protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9C093-2.


name: sperm flagellar protein 2 isoform h1 (human)

description: A sperm flagellar protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9C093-1.


name: sperm flagellar protein 2 isoform 3 (human)

description: A sperm flagellar protein 2 isoform 3 that is encoded in the genome of human.


name: sperm flagellar protein 2 isoform h4 (human)

description: A sperm flagellar protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9C093-4.


name: sperm flagellar protein 2 isoform m3 (mouse)

description: A sperm flagellar protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8C9J3-3.


name: sperm flagellar protein 2 isoform m2 (mouse)

description: A sperm flagellar protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8C9J3-2.


name: SPEF2_HUMAN Sperm flagellar protein 2 (sprot)

description: A sperm flagellar protein 2 that is encoded in the genome of human.


name: sperm flagellar protein 2 isoform m1 (mouse)

description: A sperm flagellar protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8C9J3-1.


ketotriose derivative

A triose derivative that is formally obtained from ketotriose.


1-tetradecylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as tetradecyl


1-dodecylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as dodecyl


A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as (9Z,12Z,15Z)-octadecatrienyl.


1-arachidonoylglycerone 3-phosphate

A 1-acylglycerone 3-phosphate in which the acyl group is specified as arachidonoyl.


1-palmitylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as palmityl (hexadecyl).


1-pentadecylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as pentadecyl


An O-alkylglycerone that is the mono-ethyl ether of 1,3-dihydroxyacetone.


1-octadecylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as octadecyl.


1-oleylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as oleyl


1-oleoylglycerone 3-phosphate

A 1-acylglycerone 3-phosphate in which the acyl group is specified as oleoyl.


1-alkylglycerone 3-phosphate

A glycerone 3-phosphate having an unspecified O-alkyl substituent at the 1-position.


1-linoleoylglycerone 3-phosphate

A 1-acylglycerone 3-phosphate in which the acyl group is specified as linoleoyl.


A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as (9Z,12Z)-octadecadienyl.


1-acylglycerone 3-phosphate

A glycerone 3-phosphate having an unspecified O-acyl substituent at the 1-position.


An O-alkylglycerone that consists of glycerone bearing a single O-methyl substituent.


1-heptadecylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as heptadecyl.


name: N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 deaminated 1 (human)

description: An N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 (human) that has been deaminated on the residue at the position equivalent to Asn-219 of the amino acid sequence represented by UniProtKB:Q9NY97-1. Example: UniProtKB:Q9NY97-1, Asn-219, MOD:00684.


name: sialic acid-binding Ig-like lectin 11 isoform h2 (human)

description: A sialic acid-binding Ig-like lectin 11 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96RL6-2.


name: desumoylating isopeptidase 1 cysteinylated 1 (human)

description: A desumoylating isopeptidase 1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-108 of the amino acid sequence represented by UniProtKB:Q6ICB0. UniProtKB:Q6ICB0, Cys-108, MOD:00765.


name: DESI1_HUMAN Desumoylating isopeptidase 1 (sprot)

description: A desumoylating isopeptidase 1 that is encoded in the genome of human.


name: desumoylating isopeptidase 1 deaminated 1 (human)

description: A desumoylating isopeptidase 1 (human) that has been deaminated on the residue at the position equivalent to Asn-5 of the amino acid sequence represented by UniProtKB:Q6ICB0. UniProtKB:Q6ICB0, Asn-5, MOD:00684.


name: desumoylating isopeptidase 1 isoform 1 (human)

description: A desumoylating isopeptidase 1 isoform 1 that is encoded in the genome of human.


(R)-3-methyl-2-oxovaleric acid

The (R)-enantiomer of 3-methyl-2-oxovaleric acid.


name: 45 kDa calcium-binding protein isoform 1 (rat)

description: A 45 kDa calcium-binding protein isoform 1 that is encoded in the genome of rat.


A triacylglycerol 42:2 in which the acyl groups at positions 1, 2 and 3 are specified as octanoyl, hexadecenoyl and octadecenoyl respectively.


triacylglycerol 42:2

A triglyceride in which the three acyl groups contain a total of 42 carbons and 2 double bonds.


name: Aly/REF export factor 2 isoform m2 (mouse)

description: An Aly/REF export factor 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9JJW6-2.


ARTOCARPIN

A trihydroxyflavone that is flavone substituted by hydroxy groups at positions 5, 2', and 4', a methoxy group at position 7, a prenyl group at position 3 and a (1E)-3-methylbut-1-enyl group at position 6. Isolated from Artocarpus heterophyllus and Artocarpus integrifolia, it exhibits antineoplastic activity.


name: SYC_SCHPO Probable cysteine--tRNA ligase (sprot)

description: A cysteine--tRNA ligase, cytoplasmic that is encoded in the genome of Schizosaccharomyces pombe 972h-.


name: argininosuccinate lyase, initiator methionine removed form (human)

description: An argininosuccinate lyase (human) that has had the initiator methionine removed. UniProtKB:P30566, 2-484.


name: BTB/POZ domain-containing protein KCTD14

description: A protein that is a translation product of the human KCTD14 gene or a 1:1 ortholog thereof.


name: KCD14_HUMAN BTB/POZ domain-containing protein KCTD14 (sprot)

description: A BTB/POZ domain-containing protein KCTD14 that is encoded in the genome of human.


aquaporin-5 isoform 1 (rat)

An aquaporin-5 isoform 1 that is encoded in the genome of rat.


AQP5_RAT Aquaporin-5 (sprot)

An aquaporin-5 that is encoded in the genome of rat.


Factor XIII Inactivation

description: Presence of inactivating antibodies to factor XIII in the blood.


acquired factor XIII deficiency

description: An acquired coagulation disorder due to reduced levels and activity of factor XIII.


name: NLP30_CAEEL Neuropeptide-like protein 30 (sprot)

description: A protein that is a translation product of the nlp-30 gene in worm.


name: SPARC-like protein 1 O-glycosylated 8 (human)

description: A SPARC-like protein 1 (human) that has been O-glycosylated at the residue equivalent to Thr-31 of the amino acid sequence represented by UniProtKB:Q14515-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:Q14515-1, Thr-31, MOD:00005~GNO:G53434XO.


name: BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 cysteinylated 2 (human)

description: A BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-210 of the amino acid sequence represented by UniProtKB:Q13829-1. Example: UniProtKB:Q13829-1, Cys-210, MOD:00765.


protein BEX4 isoform 1 (rat)

A protein BEX4 isoform 1 that is encoded in the genome of rat.


protein BEX4

A protein that is a translation product of the human BEX4 gene or a 1:1 ortholog thereof.


BEX4_HUMAN Protein BEX4 (sprot)

A protein BEX4 that is encoded in the genome of human.


protein BEX4 cysteinylated 1 (human)

A protein BEX4 (human) that has been cysteinylated on the residue at the position equivalent to Cys-117 of the amino acid sequence represented by UniProtKB:Q9NWD9. UniProtKB:Q9NWD9, Cys-117, MOD:00765.


protein BEX4 isoform 1 (mouse)

A protein BEX4 isoform 1 that is encoded in the genome of mouse.


BEX4_MOUSE Protein BEX4 (sprot)

A protein BEX4 that is encoded in the genome of mouse.


BEX4_RAT Protein BEX4 (sprot)

A protein BEX4 that is encoded in the genome of rat.


protein BEX4 isoform 1

A protein BEX4 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9CWT2-1 or a 1:1 ortholog thereof.


name: SPAT2_MOUSE Spermatogenesis-associated protein 2 (sprot)

description: A spermatogenesis-associated protein 2 that is encoded in the genome of mouse.


name: spermatogenesis-associated protein 2 isoform m1 (mouse)

description: A spermatogenesis-associated protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8K004-1.


name: spermatogenesis-associated protein 2 isoform m2 (mouse)

description: A spermatogenesis-associated protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8K004-2.


name: WDR83_RAT WD repeat domain-containing protein 83 (sprot)

description: A mitogen-activated protein kinase organizer 1 that is encoded in the genome of rat.


name: VPS27_CANAL Vacuolar protein sorting-associated protein 27 (sprot)

description: A protein that is a translation product of the VPS27 gene in Candida albicans SC5314.


A phenylalkylamine that is benzene in which one of the hydrogens is substituted by a 3-aminopropyl group.


name: cystathionine gamma-lyase cysteinylated 1 (human)

description: A cystathionine gamma-lyase (human) that has been cysteinylated on the residue at the position equivalent to Cys-109 of the amino acid sequence represented by UniProtKB:P32929-1. Example: UniProtKB:P32929-1, Cys-109, MOD:00765.


name: tyrosine 3-monooxygenase phosphorylated 1 (rat)

description: A tyrosine 3-monooxygenase phosphorylated 1 in rat. UniProtKB:P04177, Ser-31, MOD:00046.


RAFFINOSE

A trisaccharide composed of alpha-D-galactopyranose, alpha-D-glucopyranose and beta-D-fructofuranose joined in sequence by 1->6 and 1<->2 glycosidic linkages, respectively.


adenosine 5'-phosphoramidate

The phosphoramadite analogue of AMP.


spinal intradural arachnoid cysts

description: Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.


intracranial arachoid cyst

description: A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid.


name: AFG32_HUMAN Mitochondrial inner membrane m-AAA protease component AFG3L2 (sprot)

description: An AFG3-like protein 2 that is encoded in the genome of human.


name: AFG3-like protein 2 deaminated 1 (human)

description: An AFG3-like protein 2 (human) that has been deaminated on the residue at the position equivalent to Asn-706 of the amino acid sequence represented by UniProtKB:Q9Y4W6. UniProtKB:Q9Y4W6, Asn-706, MOD:00684.


name: AFG3-like protein 2 acetylated 1 (human)

description: An AFG3-like protein 2 (human) that has been acetylated on the residue at the position equivalent to Lys-710 of the amino acid sequence represented by UniProtKB:Q9Y4W6. UniProtKB:Q9Y4W6, Lys-710, MOD:00723.


name: MB212_HUMAN Protein mab-21-like 2 (sprot)

description: A protein mab-21-like 2 that is encoded in the genome of human.


protein mab-21-like 2 isoform 1 (human)

A protein mab-21-like 2 isoform 1 that is encoded in the genome of human.


SBMC_ECOLI DNA gyrase inhibitor (sprot)

A DNA gyrase inhibitor that is encoded in the genome of Escherichia coli K-12.


DNA gyrase inhibitor

A protein that is a translation product of the Escherichia coli K-12 gyrI gene or a 1:1 ortholog thereof.


name: Ductal Eccrine Carcinoma with Abundant Fibromyxoid Stroma

description: A variant of ductal eccrine carcinoma with abundant fibromyxoid stroma.


name: mitochondrial amidoxime-reducing component 1, initiator methionine removed form (human)

description: A mitochondrial amidoxime-reducing component 1 (human) that has had the initiator methionine removed. Example: UniProtKB:Q5VT66-1, 2-337.


name: LSP1B_DROME Larval serum protein 1 beta chain (sprot)

description: A protein that is a translation product of the Lsp1beta gene in fruit fly.


TOM1-like protein 2 isoform 1 (mouse)

A TOM1-like protein 2 isoform 1 that is encoded in the genome of mouse.


name: SUN domain-containing protein 3 isoform 1 (mouse)

description: A SUN domain-containing protein 3 isoform 1 that is encoded in the genome of mouse.


name: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial, transit peptide removed form (human)

description: A 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial (human) that has had the transit peptide removed. UniProtKB:P21953, 51-392.


name: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial, transit peptide removed form

description: A 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial that has had the transit peptide removed.