Vaginal Dermoid Cyst

A rare benign cystic teratoma that arises from the vagina. It presents as a slow growing cyst in the vaginal wall that contains sebaceous material and hair. The cyst is lined by squamous epithelium. Skin adnexal structures and sometimes smooth and skeletal muscle are present.


pedal digit 4 epithelium

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

An epithelium that is part of a pedal digit 4.


mesonephric glomerular capillary formation

biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The process that gives rise to a mesonephric glomerular capillary. This process pertains to the initial formation of a structure from unspecified parts.


positive regulation of leukocyte adhesion to arterial endothelial cell

Any process that activates or increases the frequency, rate or extent of leukocyte adhesion to arterial endothelial cell.


positive regulation of leukocyte adhesion to vascular endothelial cell

Any process that activates or increases the frequency, rate or extent of leukocyte adhesion to vascular endothelial cell.


negative regulation of leucine-tRNA ligase activity

Any process that stops, prevents or reduces the frequency, rate or extent of leucine-tRNA ligase activity.


innermost intercostal muscle

The Innermost intercostal muscle is a layer of intercostal muscle beneath the intercostal nerves and internal intercostal muscles. These are divided into transversus thoracis anteriorly, lateral muscle slips laterally and subcostalis posteriorly.


negative regulation of astrocyte activation

Any process that decreases the frequency, rate or extent of astrocyte activation.


modulation by symbiont of host salicylic acid-mediated defense response

Any process in which a symbiont modulates the frequency, rate or extent of the salicylic acid-mediated defense response of the host organism. The host is defined as the larger of the organisms involved in a symbiotic interaction.


positive regulation by symbiont of host salicylic acid-mediated defense response

Any process in which a symbiont activates, maintains or increases the frequency, rate or extent of the salicylic acid-mediated defense response of the host organism. The host is defined as the larger of the organisms involved in a symbiotic interaction.


symbiont-mediated suppression of defense-related host salicylic acid-mediated signal transduction pathway

A process in which a virus interferes with, inhibits or disrupts a host salicylic acid-mediated signal transduction pathways during the host defense response. The host is defined as the larger of the organisms involved in a symbiotic interaction.


effector-mediated suppression of host salicylic acid-mediated innate immune signaling

A process mediated by a molecule secreted by a symbiont that results in the suppression of host salicylic acid-mediated innate immune signaling.


posterior auricular nerve

biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A branch of the facial nerve that innervates the posterior auricular and intrinsic muscles of the auricle and, through its occipital branch, innervates the occipital belly of the occipitofrontal muscle.


branch of middle cerebral artery

Any artery arising from the middle cerebral artery.


anterior temporal artery

A branch of the middle cerebral artery that supplies blood to the anterior part of the temporal lobe.


posterior temporal artery

An artery arising from the insular section of the middle cerebral artery that supplies the posterior temporal lobe.


posterior parietal artery

An intracranial artery that supplies the posterior part of the parietal lobe.


anterior parietal artery

The artery that delivers blood to the anterior portion of the parietal lobe.


ocular angle artery

The angular artery is the terminal part of the facial artery; it ascends to the medial angle of the eye's orbit, imbedded in the fibers of the angular head of the Quadratus labii superioris, and accompanied by the angular vein.


peptidyl-histidine autophosphorylation

The phosphorylation by a protein of one or more of its own histidine residues, or a histidine residue on an identical protein.


nucleotide diphosphokinase activity

biolink:MolecularActivity biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Catalysis of the reaction: ATP + nucleoside 5'-phosphate = AMP + 5'-phosphonucleoside 3'-diphosphate.


Bolwig's organ morphogenesis

The morphogenetic process in which the anatomical structures of the larval eye in Drosophila are generated and organized. The larval eye in Drosophila is a relatively simple sensory system composed of Bolwig's organs: two clusters, each composed of 12 photoreceptor cells from which axons extend in a single fascicle to the brain.


compound eye morphogenesis

The morphogenetic process in which the anatomical structures of the compound eye are generated and organized. The adult compound eye is a precise assembly of 700-800 ommatidia. Each ommatidium is composed of 20 cells, identified by cell type and position. An example of compound eye morphogenesis is found in Drosophila melanogaster.


positive regulation of transcription elongation by RNA polymerase I

Any process that activates or increases the frequency, rate or extent of transcription elongation from RNA polymerase I promoter.


autosomal dominant cerebellar ataxia, deafness and narcolepsy

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.


endoderm of hindgut

An endoderm that is part of a hindgut [Automatically generated definition].


histone H2AXY142 phosphatase activity

Catalysis of the reaction: histone H2AX tyrosine phosphate (position 142) + H2O = histone H2AX tyrosine (position 142) + phosphate.


histone phosphatase activity

Catalysis of the reaction: a phosphorylated histone + H2O = a protein + phosphate.


histone H2AXS140 phosphatase activity

Catalysis of the reaction: histone H2AX serine phosphate (position 140) + H2O = histone H2AX serine (position 140) + phosphate.


Prostatic Pain

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

Pain in the prostate gland.


IgE B cell receptor complex

biolink:CellularComponent biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

An IgE immunoglobulin complex that is present in the plasma membrane of B cells and is composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins.


neurula embryo

An embryo at the neurula stage.


morula

A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum.


cleaving embryo

Organism at the cleavage stage.


blastula

Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence.


late embryo

An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching.


gastrula

Organism at the gastrula stage.


Purkinje myocyte-ventricular cardiac muscle cell adhesion involved in cell communication

The attachment of an Purkinje myocyte to a ventricular cardiac muscle cell via adhesion molecules that results in the cells being juxtaposed so that they can communicate.


MacAB-TolC complex

The MacAB-TolC complex is a macrolide transporter complex found in E.coli and related gram-negative bacteria. Its transport activity is specific to macrolide compounds containing 14- and 15-membered lactones. It consists of the dimeric inner membrane ATPase MacB, the hexameric, periplasmic membrane fusion protein MacA and the trimeric outer membrane factor TolC.


macrolide transmembrane transporter complex

A bacterial transmembrane transporter complex that spans the entire cell membrane system and possesses ATP-dependent xenobiotic transport activity pumping drugs (typically antibiotics) and other toxins directly from the cytosol out of the bacterial cell. Typically, it is trimeric consisting of a inner membrane ATPase (IMP), a periplasmic membrane fusion protein (MFP) and an outer membrane factor (OMF). In E. coli, macrolide transporter complexes may consists of MacB (IMP), MacA (MFP) and TolC (OMF) or AcrB (IMP), AcrA (MFP) and TolC (OMF). Trimeric TolC is a common OMF found in many macrolide transporter complexes.


establishment or maintenance of cytoskeleton polarity involved in mesendodermal cell migration

Any cellular process that results in the specification, formation or maintenance of polarized cytoskeletal structures that contribute to the cell polarity of a migrating mesendodermal cell.


vitamin B2

Any member of a group of vitamers that belong to the chemical structural class called flavins that exhibit biological activity against vitamin B2 deficiency. Symptoms associated with vitamin B2 deficiency include glossitis, seborrhea, angular stomaitis, cheilosis and photophobia. The vitamers include riboflavin and its phosphate derivatives (and includes their salt, ionised and hydrate forms).


protein storage vacuole

A storage vacuole that contains a lytic vacuole; identified in plants.


plant-type vacuole

A closed structure that is completely surrounded by a unit membrane, contains liquid, and retains the same shape regardless of cell cycle phase. An example of this structure is found in Arabidopsis thaliana.


central vacuole

A membrane-enclosed sac that takes up most of the volume of a mature plant cell. Functions include storage, separation of toxic byproducts, and cell growth determination.


senescence-associated vacuole

A lytic vacuole that is maintained at acidic pH and has different tonoplast composition compared to the central vacuole. Found during leaf senescence and develops in the peripheral cytoplasm of cells that contain chloroplast.


Persistent Atrial Fibrillation by ECG Finding

An electrocardiographic tracing demonstrating atrial fibrillation that is present during the entire recording.


glycyrrhetinate catabolic process

The chemical reactions and pathways resulting in the breakdown of glycyrrhetinate.


positive regulation of substance P secretion

Any process that activates or increases the frequency, rate or extent of substance P secretion.


positive regulation of substance P secretion, neurotransmission

Any process that activates or increases the frequency, rate or extent of substance P secretion, neurotransmission.


positive regulation of prolactin secretion

Any process that activates or increases the frequency, rate or extent of prolactin secretion.


positive regulation of thyroid-stimulating hormone secretion

Any process that activates or increases the frequency, rate or extent of thyroid-stimulating hormone secretion.


positive regulation of calcitonin secretion

Any process that activates or increases the frequency, rate or extent of calcitonin secretion.


positive regulation of glucagon secretion

Any process that activates or increases the frequency, rate or extent of the regulated release of glucagon.


excitation of vasomotor center by aortic body chemoreceptor signaling

The process in which the molecular signal from an aortic body is relayed to the vasomotor center, causing it to signal an increase arterial pressure.


excitation of vasomotor center by chemoreceptor signaling

The process in which the molecular signal from the carotid and aortic bodies is relayed to the vasomotor center, causing it to signal an increase arterial pressure.


excitation of vasomotor center by carotid body chemoreceptor signaling

The process in which the molecular signal from a carotid body is relayed to the vasomotor center, causing it to signal an increase arterial pressure.


PMS2 Loss of Nuclear Expression

An indication that expression of PMS2 was not detected in the nuclei of cells in a sample.


primary hyperoxaluria type 2

Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.


negative regulation of dopamine uptake involved in synaptic transmission

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of dopamine into a presynaptic neuron or glial cell.


inhibition of histamine uptake

Any process that prevents the activation of the directed movement of histamine into a cell.


inhibition of serotonin uptake

Any process that prevents the activation of the directed movement of serotonin into a cell.


negative regulation of catecholamine uptake involved in synaptic transmission

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of catecholamine neurotransmitters into a neuron or glial cell.


inhibition of neurotransmitter uptake

Any process that prevents the activation of the directed movement of a neurotransmitter into a cell.


inhibition of norepinephrine uptake

Any process that prevents the activation of the directed movement of norepinephrine into a cell.


negative regulation of gamma-aminobutyric acid uptake involved in transmission of nerve impulse

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of gamma-aminobutyric acid (GABA, 4-aminobutyrate) into a neuron or glial cell.


negative regulation of histamine uptake

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of histamine into a cell.


negative regulation of amino acid uptake involved in synaptic transmission

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amino acid neurotransmitters into a neuron or glial cell.


negative regulation of glutamate uptake involved in transmission of nerve impulse

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of L-glutamate into a neuron or glial cell.


inhibition of dopamine uptake involved in synaptic transmission

Any process that prevents the activation of the directed movement of dopamine into a cell.


inhibition of acetylcholine uptake

Any process that prevents the activation of the directed movement of acetylcholine into a cell.


Disseminated varicella zoster vaccine virus infection

A rare systemic and life-threatening infection associated with vaccination with the live attenuated strain of the Varicella-zoster virus, Oka.


negative regulation of eosinophil chemotaxis

Any process that stops, prevents or reduces the frequency, rate or extent of eosinophil chemotaxis.


midchain alkane hydroxylase activity

Catalysis of the conversion of an alkane to a secondary alcohol.


spleen secondary B follicle

The nodules of antigen-activated, differentiating B cells, follicular dendritic cells, antigen-presenting T cells and macrophages in the spleen white pulp.


secondary nodular lymphoid tissue

A lymphoid follicle that contains a germinal center.


lymph node secondary follicle

A secondary follicle that is located in a lymph node.


hereditary hypotrichosis with recurrent skin vesicles

Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.


isoprenoid

Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives.


tetraterpenoid

Any terpenoid derived from a tetraterpene. The term includes compounds in which the C40 skeleton of the parent tetraterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


Retinyl octanoate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of octanoic acid with the hydroxy group of all-trans-retinol.


tetracyclic diterpenoid

A diterpenoid with a tetracyclic skeleton.


3,4-Didehydroretinoic acid

A retinoid obtained by 3,4-desaturation of beta-ionone ring of all-trans-retinoic acid


sesquiterpenoid

Any terpenoid derived from a sesquiterpene. The term includes compounds in which the C15 skeleton of the parent sesquiterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


Vitamin A palmitate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of palmitic (hexadecanoic acid) with the hydroxy group of all-trans-retinol. It is used in cosmetic products to treat various skin disorders such as acne, skin aging, wrinkles, dark spots, and also protect against psoriasis.


Retinyl dodecanoate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of dodecanoic (lauric) acid with the hydroxy group of all-trans-retinol.


A retinoid that consists of 3,7-dimethylnona-2,4,6,8-tetraenoic acid having a 4-methoxy-2,3,6-trimethylphenyl group attached at position 9.


monoterpenoid

Any terpenoid derived from a monoterpene. The term includes compounds in which the C10 skeleton of the parent monoterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


xanthophyll

A subclass of carotenoids consisting of the oxygenated carotenes.


Vitamin A2

A retinoid derived from 3,4-desaturation of the beta-ionone ring of all-trans-retinol.


A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraen-1-ol substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified).


retinoid

Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof.


vitamin A myristate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of tetradecanoic acid with the hydroxy group of all-trans-retinol.


terpenoid

Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group.


cyclic terpene ketone

An alicyclic ketone in which the carbocyclic ring structure forms part of a terpene skeleton.


carotenoid

One of a class of tetraterpenoids (C40), formally derived from the acyclic parent, psi,psi-carotene by hydrogenation, dehydrogenation, cyclization, oxidation, or combination of these processes. This class includes carotenes, xanthophylls and certain compounds that arise from rearrangement of the skeleton of psi,psi-carotene or by loss of part of this structure. Retinoids are excluded.


A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraenoic acid substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified).


Retinyl heptanoate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of heptanoic acid with the hydroxy group of all-trans-retinol.


all-trans-retinyl ester

A retintinyl ester in which all double bonds of the retinyl side-chain have trans-configuration.


terpene ketone

Any terpenoid which contains a keto group.


Menthol

Any secondary alcohol that is one of the eight possible diastereoisomers of 5-methyl-2-(propan-2-yl)cyclohexan-1-ol.


diterpenoid

Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


acquired lactic acidosis

An instance of lactic acidosis that is acquired during the lifetime of the individual.


dorsal nasal artery

The dorsal nasal artery (nasal artery) is an artery of the head. It is one of the two terminal branches of the ophthalmic artery. [WP,unvetted].


terminal branch of ophthalmic artery

The two terminal branches of the ophthalmic artery in humans are the dorsal nasal artery and the supratrochlear artery.


frontal artery

The supratrochlear artery (or frontal artery), one of the terminal branches of the ophthalmic artery, branches off where the ophthalmic travels posterior to the trochlea.


Duodenal Adenoma

A circumscribed neoplasm that arises from the glandular epithelium of the duodenum. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous.


Benign Periampullary Neoplasm

A non-metastasizing neoplasm arising from the periampullary region.


m-cresol catabolic process

The chemical reactions and pathways resulting in the breakdown of m-cresol (3-hydroxytoluene), the meta-isoform of cresol.


Catalysis of the reaction: dolichyl beta-D-glucosyl phosphate + H2O = dolichol-phosphate + beta-D-glucose.


orsellinate decarboxylase activity

Catalysis of the reaction: o-orsellinate + H+ = CO2 + orcinol.


Atypical Type A Thymoma

A rare type A thymoma displaying atypical features (hypercellularity, increased mitotic activity, and focal necrosis).


Pathologic Stage I Merkel Cell Carcinoma AJCC v8

Stage I includes: T1, N0, M0. T1: Maximum clinical tumor diameter equal to or less than 2 cm. N0: No regional lymph node metastasis detected on pathologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)


LADD syndrome 1

Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene.


joint of rib

Any joint that connects a rib to another structure (or another rib). Examples: costochondral, costovertebral, interchondral, sternocostal joints.


luteolin O-methyltransferase activity

Catalysis of the reaction: S-adenosyl-L-methionine + luteolin = 4',5,7-trihydroxy-3'-methoxyflavone + S-adenosyl-L-homocysteine + H+.


mid cerebral vein

The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceede lateraly in a ventral direction to drain into the paired primordial midbrain channels (PHBC). ogai et al. 2001., Kimmel et al. 1993.


cataract 44

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.


Cellular neurothekeoma

A nerve sheath myxoma with increased cellularity.


Catalysis of the reaction: 9,10-epoxy-18-hydroxystearate + H2O <=> 9,10,18-trihydroxystearate.


Catalysis of the reaction: phenanthrene-9,10-oxide + H2O = trans-9,10-dihydrodiolphenanthrene.


glucosylglycerate hydrolase activity

Catalysis of the reaction: H2O + 2-O-(alpha-D-glucopyranosyl)-D-glycerate <=> alpha-D-glucose + D-glycerate.


juvenile hormone epoxide hydrolase activity

Catalysis of the hydrolysis of the epoxide in a juvenile hormone to the corresponding diol.


leukotriene-A4 hydrolase activity

Catalysis of the reaction: H2O + leukotriene A(4) = leukotriene B(4).


pyrene-4,5-epoxide hydrolase activity

Catalysis of the reaction: pyrene-4,5-oxide + H2O = trans-4,5-dihydroxy-4,5-dihydropyrene.


cis-stilbene-oxide hydrolase activity

Catalysis of the reaction: cis-stilbene oxide + H2O = (+)-(1R,2R)-1,2-diphenylethane-1,2-diol.


9,10-epoxystearate hydrolase activity

Catalysis of the reaction: 9,10-epoxystearate + H2O <=> (9R,10S)-dihydroxystearate.


phenanthrene-9,10-epoxide hydrolase (9R,10R-forming) activity

Catalysis of the reaction: phenanthrene-9,10-oxide + H2O = trans-9R,10R-dihydrodiolphenanthrene.


phenanthrene-epoxide hydrolase activity

Catalysis of the reaction: a phenanthrene dioxide + H2O = a dihydrodiolphenanthrene.


mannosylglycerate hydrolase activity

Catalysis of the reaction: H2O + 2-(alpha-D-mannosyl)-D-glycerate <=> alpha-D-mannose + D-glycerate.


Catalysis of the reaction: phenanthrene-1,2-oxide + H2O = trans-1,2-dihydrodiolphenanthrene.


epoxide hydrolase B activity

Catalysis of the hydrolysis of the ether in chloro- or hydroxyepoxypropane to produce chloropropane diol or glycerol. Acts on R enantiomers.


epoxide hydrolase A activity

Catalysis of the hydrolysis of the ether in chloro-, bromo- or hydroxyepoxypropane to produce a chloro- or bromopropane diol or glycerol.


phenanthrene-9,10-epoxide hydrolase (9S,10S-forming) activity

Catalysis of the reaction: phenanthrene-9,10-oxide + H2O = trans-9(S),10(S)-dihydrodiolphenanthrene.


Catalysis of the reactions: 5,6alpha-epoxy-5alpha-cholestan-3beta-ol + H2O = cholestane-3beta-5alpha,6beta-triol, and 5,6beta-epoxy-5beta-cholestan-3beta-ol + H2O = cholestane-3beta-5alpha,6beta-triol.


limonene-1,2-epoxide hydrolase activity

Catalysis of the reaction: limonene-1,2-epoxide + H2O = limonene-1,2-diol. Other substrates include alicyclic and 1-methyl-substituted epoxides, such as 1-methylcyclohexene oxide, indene oxide and cyclohexene oxide.


aurachin C epoxide hydrolase/isomerase activity

Catalysis of the reaction: aurachin C epoxide + H+ + NAD(P)H <=> aurachin B + H2O + NAD(P).


trans-epoxysuccinate hydrolase activity

Catalysis of the reaction: trans-2,3-epoxysuccinate + H2O = (2R,3S)-tartrate.


Catalysis of the reaction: phenanthrene-3,4-oxide + H2O = trans-3,4-dihydrodiolphenanthrene.


Catalysis of the reaction: H2O + 1-(1-alkenyl)-sn-glycero-3-phosphocholine = L-1-glycero-3-phosphocholine + an aldehyde.


Catalysis of the reaction: H2O + 1-(1-alkenyl)-sn-glycero-3-phosphoethanolamine = sn-glycero-3-phosphoethanolamine + an aldehyde.


isochorismatase activity

Catalysis of the reaction: H2O + isochorismate = 2,3-dihydroxy-2,3-dihydrobenzoate + pyruvate.


cutaneous undifferentiated pleomorphic sarcoma

An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.


Anaplastic Sarcoma of the Kidney

A rare tumor, usually occurring in young adults (mean age 12 years) with slight female predominance. It is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. Most cases show chondroid differentiation.


autosomal recessive limb-girdle muscular dystrophy type 2Q

Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.


Barrett Esophagus-Indefinite for Dysplasia

A finding indicating the presence of Barrett esophagus in which technical reasons make the interpretation of atypia difficult, atypia is present but it is not quite to the level of dysplasia, or atypia is present at the bases of the crypts but does not reach the surface of the crypts.


Gastrointestinal dysplasia

A finding indicating the presence of morphologic features of neoplasia in the epithelium of any part of the digestive system without evidence of invasion.  These features include architectural and cytological epithelial alterations.


High Grade Dysplasia in Ulcerative Colitis

A morphologic finding indicating the presence of high grade colorectal epithelial dysplasia secondary to ulcerative colitis.


Moderate dysplasia of colon

A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the glandular epithelium of the colonic mucosa. There is no evidence of invasion.


Barrett Esophagus-Negative for Dysplasia

A finding indicating the presence of Barrett esophagus with regenerative changes only.


Barretts esophagus with high grade dysplasia

A finding indicating the presence of Barrett esophagus in which there is marked nuclear pleomorphism and loss of polarity, increased number of atypical mitotic figures, and crypt budding, branching, and crowding.


Crohn Disease-Associated Dysplasia of the Colorectum

A morphologic finding indicating the presence of dysplastic epithelial changes in an intestinal tissue sample that is affected by Crohn disease.


Negative for Gastric Dysplasia

A morphologic finding indicating the absence of dysplastic changes in the gastric mucosal epithelium.  It includes non-neoplastic inflammatory, reactive, or metaplastic pathologic processes.


Low Grade Dysplasia in Inflammatory Bowel Disease

A morphologic finding indicating the presence of low grade colorectal epithelial dysplasia secondary to inflammatory bowel disease.


Ulcerative Colitis-Associated Dysplasia of the Colorectum

A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis.


Mild dysplasia of colon

A morphologic finding indicating the presence of mild dysplastic cellular changes and mild architectural changes in the glandular epithelium of the colonic mucosa. There is no evidence of invasion.


Barretts esophagus with dysplasia

Epithelial dysplasia that develops in Barrett esophagus. It is classified as low or high grade. When technical reasons make the interpretation of atypia difficult, atypia is present but it is not quite to the level of dysplasia, or atypia is present at the bases of the crypts but does not reach the surface of the crypts, then the diagnosis of Barrett esophagus-indefinite for dysplasia is made.


Low Grade Dysplasia in Ulcerative Colitis

A morphologic finding indicating the presence of low grade colorectal epithelial dysplasia secondary to ulcerative colitis.


Gastric dysplasia

A intraepithelial neoplasia (dysplasia) that arises in either the native gastric mucosa or in metaplastic gastric epithelium.  It has a flat, polypoid or slightly depressed growth pattern.  It is graded as low grade (mild dysplasia) or high grade (moderate dysplasia and carcinoma in situ).  (WHO, 2000)


Inflammatory Bowel Disease-Associated Dysplasia of the Colorectum

A morphologic finding indicating the presence of colorectal epithelial dysplasia secondary to inflammatory bowel disease.


Barretts esophagus with low grade dysplasia

A finding indicating the presence of Barrett esophagus in which the crypts are preserved or mildly distorted.  There is nuclear elongation, mild pleomorphism and loss of polarity, mucin depletion, and increased number of mitotic figures.


Moderate dysplasia of rectum

A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the glandular epithelium of the rectal mucosa. There is no evidence of invasion.


Esophageal Columnar Dysplasia

A morphologic finding the replacement of the normal lower esophagus squamous epithelium with columnar epithelium.


Dysplasia of rectum

A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the rectal mucosa.  There is no evidence of invasion.


High Grade Dysplasia in Inflammatory Bowel Disease

A morphologic finding indicating the presence of high grade colorectal epithelial dysplasia secondary to inflammatory bowel disease.


Liver Dysplastic Foci

A morphologic finding indicating the presence of single or multiple foci of hepatocytes that exhibit dysplastic changes.  These microscopic foci measure less than 1 mm in diameter and are usually detected in cirrhotic livers.


Indefinite for Gastric Dysplasia

A term used to describe an ambiguous morphologic pattern in the gastric mucosa, when there is doubt whether the findings represent a non-neoplastic or neoplastic pathologic process.


Mild dysplasia of rectum

A morphologic finding indicating the presence of mild dysplastic cellular changes and mild architectural changes in the glandular epithelium of the rectal mucosa. There is no evidence of invasion.


Moderate esophageal dysplasia

A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the epithelium of the esophageal mucosa. There is no evidence of invasion.


Catalysis of the reaction: L-cystine + H2O = pyruvate + NH3 + thiocysteine. Thiocysteine is also known as cysteine persulfide.


dioctophymiasis

A disease caused by infection with Dioctophyme renale.


Enoplea infectious disease

Infections with nematodes of the order enoplida.


trichuriasis

An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea.


trichinellosis

A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.


capillariasis

A infectious disease involving the Capillaria.


Trichinella spiralis infectious disease

An disease or disorder caused by infection with Trichinella spiralis.


Catalysis of the reaction: a 1-phosphatidyl-1D-myo-inositol 3-phosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate + ADP + 2 H+.


Catalysis of the reaction: a 1-phosphatidyl-1D-myo-inositol 3-phosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + ADP + 2 H+.


Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol + ATP = a 1-phosphatidyl-1D-myo-inositol 5-phosphate + ADP + 2 H+.


heterotaxy, visceral, 10, autosomal, with male infertility


disulfoglucosamine-6-sulfatase activity

Catalysis of the reaction: N(2),6-disulfo-D-glucosamine + H2O = N-sulfo-D-glucosamine + H+ + sulfate.


malignant central nervous system mesenchymal, non-meningothelial neoplasm

A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system.


central nervous system melanocytic neoplasm

A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.


central nervous system extraskeletal osteosarcoma

An osteosarcoma arising from the brain or spinal cord.


diencephalic cancer

A cancer involving a diencephalon.


meningeal melanomatosis

A meningeal melanoma with secondary diffuse meningeal spread. (WHO)


cerebral sarcoma

A sarcoma involving a telencephalon.


cerebral lymphoma

A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.


primary intracranial sarcoma, DICER1-mutant

A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.


meningeal sarcoma

A rare sarcoma arising from the meninges.


malignant leptomeningeal tumor

A primary or metastatic malignant tumor involving the leptomeninges.


anaplastic meningioma

A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).


skin meningioma

A meningioma (disease) that involves the zone of skin.


parasagittal meningioma

A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.


choroid plexus meningioma

A meningioma that affects the choroid plexus.


intraventricular meningioma

A meningioma that affects the ventricles of the brain.


spinal meninges cancer

A malignant neoplasm involving the meninx of spinal cord.


primary melanoma of the central nervous system

A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.


pineal gland cancer

Abnormal malignant growth of the cells that comprise the pineal parenchyma.


adult leptomeningeal melanoma

A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood.


cerebral hemisphere cancer

A cancer that involves the cerebral hemisphere.


childhood brain stem neoplasm

A neoplasm that affects the brain stem and occurs during childhood.


cerebellopontine angle embryonal tumor

A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain.


lateral ventricle meningioma

A meningioma that affects the lateral ventricle of the brain.


primary skin meningioma

A rare extracranial meningioma that arises from the skin.


malignant carotid body paraganglioma

A carotid body paraganglioma that metastasizes to other anatomic sites.


brainstem cancer

A primary or metastatic malignant neoplasm that affects the brain stem.


meningeal melanocytoma

A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative.


paragangliomas 5

Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.


frontal convexity meningioma

A meningioma that affects the frontal sulcus.


infratentorial cancer

Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.


central nervous system sarcoma

A sarcoma that arises from the central nervous system.


cerebral primitive neuroectodermal tumor

A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres.


cancer of cerebellum

A cancer that involves the cerebellum.


intracranial extraskeletal myxoid chondrosarcoma

An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium.


intracerebral cystic meningioma

A cystic meningioma that grows within the cerebral hemispheres.


cerebral ventricle cancer

A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure.


thalamic cancer

A cancer involving a dorsal plus ventral thalamus.


parietal lobe cancer

A malignant neoplasm involving the parietal lobe


cerebral convexity meningioma

A meningioma that affects the cerebral sulcus.


pituitary cancer

A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract.


leptomeningeal sarcoma

A sarcoma arising from the leptomeninges.


brain sarcoma

A sarcoma arising from the brain.


diffuse meningeal melanocytosis

A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)


cerebral meningioma

A meningioma that affects the cerebral hemispheres.


leptomeningeal melanoma

A melanoma that arises from leptomeningeal melanocytes.


malignant jugulotympanic paraganglioma

A jugulotympanic paraganglioma that metastasizes to other anatomic sites.


sarcomatosis of the meninges

A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis.


central nervous system angiosarcoma

A malignant vascular neoplasm arising from the brain, spinal cord or meninges.


choroid plexus cancer

A malignant neoplasm involving the choroid plexus


paragangliomas 4

Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene.


malignant tumor of meninges

A cancer that involves the meningeal cluster.


central nervous system leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells.


paragangliomas 2

Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene.


pediatric leptomeningeal melanoma

A melanoma that arises from leptomeningeal melanocytes and occurs in childhood.


retinitis pigmentosa 27

Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.


Stage I Ureter Cancer AJCC v8

Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage I Renal Pelvis and Ureter Cancer AJCC v8


Rhino-Deadlock-Cutoff Complex

Protein complex found in Drosophila consisting of the gene products of cuff, del and rhi. It regulates the licensing of transcription of dual-strand PIWI interacting RNA (piRNA) source loci by binding to dual-strand-cluster chromatin, probably via the H3K9me3-binding activity of Rhi. Rhi binding brings the putative termination cofactor Cuff in close proximity to the nascent piRNA precursor transcript which it appears to protect from degradation.


Charcot-Marie-Tooth disease axonal type 2S

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.


positive regulation of cortical granule exocytosis by positive regulation of cytosolic calcium ion concentration

Any process that activates or increases the frequency, rate or extent of cortical granule exocytosis by directing movement of calcium ions (Ca2+) into the cytosol.


negative regulation of synaptic vesicle fusion to presynaptic active zone membrane

Any process that stops, prevents, or reduces the frequency, rate or extent of synaptic vesicle fusion to the presynaptic membrane.


negative regulation of cytotoxic T cell degranulation

Any process that stops, prevents, or reduces the rate of cytotoxic T cell degranulation.


negative regulation of natural killer cell degranulation

Any process that stops, prevents, or reduces the rate of natural killer cell degranulation.


negative regulation of constitutive secretory pathway

Any process that stops, prevents or reduces the frequency, rate or extent of constitutive secretory pathway.


positive regulation of dense core granule exocytosis

Any process that activates or increases the frequency, rate or extent of dense core granule exocytosis.


positive regulation of calcium ion-dependent exocytosis of neurotransmitter

Any process that activates or increases the frequency, rate or extent of calcium ion-dependent exocytosis of neurotransmitter.


regulation of exocytic insertion of neurotransmitter receptor to postsynaptic membrane

Any process that modulates the frequency, rate or extent of exocytic fusion of neurotransmitter receptor containing vesicles into the postsynaptic membrane.


positive regulation of mast cell degranulation in another organism

Any process in which an organism increases the frequency, rate or extent of blood mast cell degranulation in another organism.


induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration

The induction of synaptic vesicle release by any process that leads to a rise in intracellular calcium ion concentration at the presynapse. This is the first step in synaptic transmission.


regulation of dense core granule exocytosis

Any process that modulates the frequency, rate or extent of dense core granule exocytosis.


regulation of cytotoxic T cell degranulation

Any process that modulates the frequency, rate, or extent of cytotoxic T cell degranulation.


modulation of mast cell degranulation in another organism

Any process in which an organism modulates the frequency, rate or extent of blood mast cell degranulation in another organism. Mast cell degranulation is the regulated exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell.


negative regulation of eosinophil degranulation

Any process that stops, prevents, or reduces the rate of eosinophil degranulation.


regulation of presynaptic dense core granule exocytosis

Any process that modulates the frequency, rate or extent of presynaptic dense core granule exocytosis.


positive regulation of cytotoxic T cell degranulation

Any process that activates or increases the frequency, rate or extent of cytotoxic T cell degranulation.


negative regulation of calcium ion-dependent exocytosis of neurotransmitter

Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion-dependent exocytosis of neurotransmitter.


negative regulation of exocyst assembly

Any process that stops, prevents, or reduces the rate or extent of exocyst assembly.


negative regulation of synaptic vesicle priming

Any process that decreases the frequency, rate or extent of synaptic vesicle priming. Synaptic vesicle priming is the formation of SNARE-containing complexes, bringing synaptic vesicle membrane and plasma membranes into close proximity and thereby facilitating membrane fusion.


positive regulation of acrosomal vesicle exocytosis

Any process that activates or increases the frequency, rate or extent of acrosomal vesicle exocytosis.


negative regulation of basophil degranulation

Any process that stops, prevents or reduces the frequency, rate or extent of basophil degranulation.


negative regulation of exosomal secretion

Any process that stops, prevents or reduces the frequency, rate or extent of exosomal secretion.


regulation of acrosomal vesicle exocytosis

Any process that modulates the frequency, rate or extent of acrosomal vesicle exocytosis.


regulation of basophil degranulation

Any process that modulates the frequency, rate or extent of basophil degranulation.


positive regulation of constitutive secretory pathway

Any process that activates or increases the frequency, rate or extent of constitutive secretory pathway.


regulation of postsynaptic dense core vesicle exocytosis

Any process that modulates the frequency, rate or extent of postsynaptic dense core vesicle exocytosis.


positive regulation of neutrophil degranulation

Any process that activates or increases the frequency, rate or extent of neutrophil degranulation.


positive regulation of basophil degranulation

Any process that activates or increases the frequency, rate or extent of basophil degranulation.


negative regulation of dense core granule exocytosis

Any process that stops, prevents or reduces the frequency, rate or extent of dense core granule exocytosis.


fibroblast growth factor receptor signaling pathway involved in heart induction

biolink:Pathway biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:OntologyClass biolink:Occurrent biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands that contributes to heart induction.


kidney smooth muscle cell differentiation

The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell in the kidney.


Stage III Intermediate Grade Adult Non-Hodgkin's Lymphoma


variola minor infection

A orthopoxvirus that causes a milder clinical syndrome than smallpox.


syndromic urogenital tract malformation

A urogenital tract malformation that is part of a larger syndrome.


congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome


spondylocostal dysostosis-anal and genitourinary malformations syndrome

Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.


8p23.1 microdeletion syndrome

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.


double uterus-hemivagina-renal agenesis syndrome

Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.


mixed gonadal dysgenesis

A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.


acrofrontofacionasal dysostosis 2

A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.


lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.


lethal hemolytic anemia-genital anomalies syndrome

Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.


mullerian duct anomalies-limb anomalies syndrome

Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.


X-linked Opitz G/BBB syndrome

X-linked form of Opitz G/BBB syndrome.


Turner syndrome due to structural X chromosome anomalies


48,XYYY syndrome

48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.


Timothy syndrome type 2

Classical Timothy syndrome without cutaneous syndactyly.


long QT syndrome 9

Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.


Timothy syndrome type 1

Classical Timothy syndrome with cutaneous syndactyly.


long QT syndrome 10

Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.


Jervell and Lange-Nielsen syndrome 1

Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.


long QT syndrome 6

Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.


Timothy syndrome, atypical type

Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death.


Jervell and Lange-Nielsen syndrome 2

Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.


long QT syndrome 13

Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.


long QT syndrome 11

Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.


long QT syndrome 15

Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.


long QT syndrome 12

Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.


Timothy syndrome, classic type

Classic form of Timothy syndrome, includes all features of generic.


ectopia lentis 2, isolated, autosomal recessive

An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.


Stage IIIC Eyelid Carcinoma AJCC v7

Stage IIIC includes: T4, Any N, M0.  T4: Tumor is not resectable due to extensive invasion of ocular, orbital, craniofacial structures, or brain.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IIA Eyelid Carcinoma AJCC v8

Stage IIA includes: T2b-c, T3, N0, M0: T2b: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. T2c: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension involving the full thickness of the eyelid. T3: Tumor measuring more than 20 mm but 30 mm or less in greatest dimension. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0 Eyelid Carcinoma AJCC v7

Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IIIB Eyelid Carcinoma AJCC v7

Stage IIIB includes: Any T, N1, M0.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage II Eyelid Carcinoma AJCC v7

Stage II includes: T3a, N0, M0.  T3a: Tumor more than 20 mm in greatest dimension.  Or, any tumor that invades adjacent ocular or orbital structures.  Or, any T with perineural tumor invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IC Eyelid Carcinoma AJCC v7

Stage IC includes: T2b, N0, M0.  T2b: Tumor more than 10 mm, but not more than 20 mm in greatest dimension.  Or, tumor involves full thickness of the eyelid.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage IIIB Eyelid Carcinoma AJCC v8

Stage IIIB includes: Any T, N2, M0. N2: Metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage I Eyelid Carcinoma AJCC v8

Stage I includes: IA: T1, N0, M0; IB: T2a, N0, M0. T1: Tumor measuring 10 mm or less in greatest dimension. T2a: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Basal cell carcinoma of eyelid

A basal cell carcinoma that arises from the eyelid.


Stage IIIA Eyelid Carcinoma AJCC v8

Stage IIIA includes: Any T, N1, M0. N1: Metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 8th ed.)


Stage IB Eyelid Carcinoma AJCC v7

Stage IB includes: T2a, N0, M0.  T2a: Tumor more than 5 mm, but not more than 10 mm in greatest dimension.  Or, any tumor that invades the tarsal plate or eyelid margin.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage IV Eyelid Carcinoma AJCC v7

Stage IV includes: Any T, Any N, M1.  M1: Distant metastasis.  (AJCC 7th ed.)


Stage IIB Eyelid Carcinoma AJCC v8

Stage IIB includes: T4, N0, M0. T4: Any eyelid carcinoma invading adjacent ocular, orbital, or facial structures. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Eyelid Carcinoma by AJCC v8 Stage

A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all primary carcinomas of the eyelid, including basal cell carcinoma (BCC), squamous cell carcinoma (SCC), sebaceous carcinoma, and other rare carcinomas, such as all varieties of sweat gland carcinoma (e.g., eccrine carcinoma). It does not apply to carcinomas of the head and neck with direct extension to eyelid (are staged according to the cutaneous squamous cell carcinomas of the head and neck), Merkel cell carcinomas of the eyelid (are staged according to the classification for Merkel cell carcinomas), and melanomas of the eyelid (are staged according to the classification for melanomas of the skin).  (from AJCC 8th Ed.)


Stage 0 Eyelid Carcinoma AJCC v8

Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage IIIA Eyelid Carcinoma AJCC v7

Stage IIIA includes: T3b, N0, M0.  T3b: Complete tumor resection requires enucleation, exenteration, or bone resection.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Eyelid Carcinoma by AJCC v7 Stage

A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 7th edition.


Stage IA Eyelid Carcinoma AJCC v7

Stage IA includes: T1, N0, M0.  T1: Tumor 5 mm or less in greatest dimension.  No invasion of the tarsal plate or eyelid margin.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage II Eyelid Carcinoma AJCC v8

Stage II includes: IIA: T2b-c, T3, N0, M0; IIB: T4, N0, M0. T2b: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. T2c: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension involving the full thickness of the eyelid. T3: Tumor measuring more than 20 mm but 30 mm or less in greatest dimension. T4: Any eyelid carcinoma invading adjacent ocular, orbital, or facial structures. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage III Eyelid Carcinoma AJCC v8

Stage III includes: IIIA: Any T, N1, M0; IIIB: Any T, N2, M0. N1: Metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage IB Eyelid Carcinoma AJCC v8

Stage IB includes: T2a, N0, M0. T2a: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage IA Eyelid Carcinoma AJCC v8

Stage IA includes: T1, N0, M0. T1: Tumor measuring 10 mm or less in greatest dimension. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage IV Eyelid Carcinoma AJCC v8

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


mitochondrial RNA surveillance

The set of processes involved in identifying and degrading defective or aberrant RNAs that takes place in the mitochondrion.


cytosine catabolic process

The chemical reactions and pathways resulting in the breakdown of cytosine, 4-amino-2-hydroxypyrimidine, a pyrimidine derivative that is one of the five main bases found in nucleic acids; it occurs widely in cytidine derivatives.


lncRNA catabolic process

The chemical reactions and pathways resulting in the breakdown of lncRNAs, non-coding RNAs over 200 nucleotides in length.


acrylonitrile catabolic process

The chemical reactions and pathways resulting in the breakdown of acrylonitrile, a colorless, volatile liquid with a pungent odor. Acrylonitrile is used in the production of acrylic fibers, plastics, and synthetic rubbers.


riboflavin catabolic process

The chemical reactions and pathways resulting in the breakdown of riboflavin (vitamin B2), the precursor for the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD).


chlorophyll catabolic process

The chemical reactions and pathways resulting in the breakdown of chlorophyll, any compound of magnesium complexed in a porphyrin (tetrapyrrole) ring and which functions as a photosynthetic pigment, into less complex products.


2-nitropropane catabolic process

The chemical reactions and pathways resulting in the breakdown of 2-nitropropane, a clear, colorless liquid with a mild, fruity odor.


deoxyguanosine catabolic process

The chemical reactions and pathways resulting in the breakdown of deoxyguanosine, a nucleoside consisting of the base guanine and the sugar deoxyribose.


citrulline catabolic process

The chemical reactions and pathways resulting in the breakdown of citrulline, N5-carbamoyl-L-ornithine, an alpha amino acid not found in proteins.


cytoplasmic polyadenylation-dependent RNA catabolic process

The chemical reactions and pathways occurring in the cytoplasm and resulting in the breakdown of an RNA molecule, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target rRNA truncated degradation intermediate.


bilirubin conjugation

The chemical reactions and pathways resulting in the formation of bilirubin monoglucuronide or bilirubin diglucuronide, water-soluble derivatives of bilirubin.


cytoplasmic polyadenylation-dependent rRNA catabolic process

The chemical reactions and pathways occurring in the cytoplasm and resulting in the breakdown of a ribosomal RNA (rRNA) molecule, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target rRNA truncated degradation intermediate.


nuclear polyadenylation-dependent CUT catabolic process

The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of a cryptic unstable transcript (CUT), initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target CUT.


maternal mRNA clearance

The chemical reactions and pathways resulting in the clearance of maternal mRNA transcripts from the zygote as part of the maternal-to-zygote transition in gene expression.


pyrimidine deoxyribonucleoside catabolic process

The chemical reactions and pathways resulting in the breakdown of any one of a family of organic molecules consisting of a pyrimidine base covalently bonded to a sugar deoxyribose (a deoxyribonucleoside).


nuclear mRNA surveillance of mRNP export

The set of processes involved in identifying and degrading incorrectly formed or aberrant nuclear mRNPs docked at the nuclear pore complex prior to export to the cytoplasm.


thiamine-containing compound catabolic process

The chemical reactions and pathways resulting in the breakdown of thiamine (vitamin B1), and compounds derived from it.


pyridine catabolic process

The chemical reactions and pathways resulting in the breakdown of pyridine, a nitrogenous base (C5H5N) obtained from the distillation of bone oil or coal tar, and by the decomposition of certain alkaloids, as a colorless liquid with a peculiar pungent odor.


thiamine catabolic process

The chemical reactions and pathways resulting in the breakdown of thiamine (vitamin B1), a water soluble vitamin present in fresh vegetables and meats, especially liver.


nitrate catabolic process

The chemical reactions and pathways resulting in the breakdown of nitrates, inorganic or organic salts and esters of nitric acid.


uridine catabolic process

The chemical reactions and pathways resulting in the breakdown of uridine, uracil riboside, a ribonucleoside very widely distributed but occurring almost entirely as phosphoric esters in ribonucleotides and ribonucleic acids.


flavin-containing compound catabolic process

The chemical reactions and pathways resulting in the breakdown of a flavin, any derivative of the dimethylisoalloxazine (7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione) skeleton, with a substituent on the 10 position.


antisense RNA transcript catabolic process

The chemical reactions and pathways resulting in the breakdown of antisense transcripts, i.e. transcripts that were produced from the antisense strand of a gene that produces a gene product and which often have a regulatory effect on the transcription of that gene product.


nuclear polyadenylation-dependent snRNA catabolic process

The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of a small nuclear RNA (snRNA) molecule, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target snRNA.


thiamine diphosphate catabolic process

The chemical reactions and pathways resulting in the breakdown of thiamine diphosphate, a derivative of thiamine (vitamin B1) which acts as a coenzyme in a range of processes including the Krebs cycle.


deoxyinosine catabolic process

The chemical reactions and pathways resulting in the breakdown of deoxyinosine, hypoxanthine deoxyriboside.


21U-RNA catabolic process

The chemical reactions and pathways resulting in the breakdown of 21U-RNAs, a class of single-stranded RNA molecules of about 21 nucleotides in length characterized by a uridine 5'-monophosphate and a modified 3' end resistant to periodate degradation. 21U-RNAs are derived from distinct, autonomously expressed loci within the genome.


nuclear-transcribed mRNA catabolic process, 5'-3' exonucleolytic nonsense-mediated decay

The chemical reactions and pathways resulting in the breakdown of the nuclear-transcribed mRNA transcript body of an mRNA in which an amino-acid codon has changed to a nonsense codon; occurs when the 5' end is not protected by a 5'-cap; degradation proceeds in the 5' to 3' direction.


nitrile catabolic process

The chemical reactions and pathways resulting in the breakdown of a nitrile, an organic compound containing trivalent nitrogen attached to one carbon atom.


coenzyme F420-dependent bicyclic nitroimidazole catabolic process

The breakdown of a bicyclic nitroimidazole into simpler components in a process that requires coenzyme F420 and produces reactive nitrogen species. Hydride, from reduced coenzyme F420, is added to the bicyclic nitroimidazole, resulting in unstable substances that break down to form three stable products. The elimination of nitrous acid produces the corresponding des-nitroimidazole; hydrolysis produces a related compound; and further reduction creates an aromatic hydroxylamine metabolite that degrades further. These reactions release hyponitrous acid and nitrous acid, which is unstable and disproportionates into nitric oxide (NO) and other reactive nitrogen intermediates.


pyridoxal phosphate catabolic process

The chemical reactions and pathways resulting in the breakdown of pyridoxal phosphate, pyridoxal phosphorylated at the hydroxymethyl group of C-5, the active form of vitamin B6.


deoxycytidine catabolic process

The chemical reactions and pathways resulting in the breakdown of deoxycytidine, 2-deoxyribosylcytosine, one of the four major nucleosides of DNA.


RNA fragment catabolic process

The chemical reactions and pathways resulting in the breakdown of a fragment of RNA, such as excised introns or sequences removed from ribosomal RNA during processing.


bicyclic nitroimidazole catabolic process

The chemical reactions and pathways resulting in the breakdown of a bicyclic nitroimidazole.


pyridine nucleoside catabolic process

The chemical reactions and pathways resulting in the breakdown of any pyridine nucleoside, a nucleoside in which a pyridine base covalently bonded to a sugar, usually ribose.


aspyridone B catabolic process

The chemical reactions and pathways resulting in the breakdown of aspyridone B.


anaerobic purine nucleobase catabolic process

The anaerobic chemical reactions and pathways resulting in the breakdown of purine nucleobases, yielding energy in the form of ATP.


atrazine catabolic process to cyanuric acid

The chemical reactions and pathways resulting in the breakdown of atrazine, a triazine ring-containing herbicide, into cyanuric acid.


N-cyclopropylmelamine catabolic process

The chemical reactions and pathways resulting in the breakdown of N-cyclopropylmelamine, a triazine compound commonly used as an insecticide.


carnitine catabolic process

The chemical reactions and pathways resulting in the breakdown of carnitine (hydroxy-trimethyl aminobutyric acid), a compound that participates in the transfer of acyl groups across the inner mitochondrial membrane.


queuosine catabolic process

The chemical reactions and pathways resulting in the breakdown of queuosines, any of a series of nucleosides found in tRNA and having an additional pentenyl ring added via an NH group to the methyl group of 7-methylguanosine. The pentenyl ring may carry other substituents.


glycine betaine catabolic process

The chemical reactions and pathways resulting in the breakdown of glycine betaine, N-trimethylglycine.


nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay

The chemical reactions and pathways resulting in the breakdown of the nuclear-transcribed mRNA transcript body of an mRNA in which an amino-acid codon has changed to a nonsense codon; occurs when the 3' end is not protected by a 3'-poly(A) tail; degradation proceeds in the 3' to 5' direction.


vitamin B6 catabolic process

The chemical reactions and pathways resulting in the breakdown of any of the vitamin B6 compounds; pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate.


purine deoxyribonucleoside catabolic process

The chemical reactions and pathways resulting in the breakdown of any one of a family of organic molecules consisting of a purine base covalently bonded to a sugar deoxyribose (a deoxyribonucleoside).


snRNA catabolic process

The chemical reactions and pathways resulting in the breakdown of snRNA, small nuclear RNA, low-molecular-mass RNA molecules found in the eukaryotic nucleus as components of the small nuclear ribonucleoprotein.


L-proline betaine catabolic process

The chemical reactions and pathways resulting in the breakdown of stachydrine, N-methylproline methylbetaine, the betaine derivative of L-proline.


nonfunctional rRNA decay

An rRNA catabolic process that results in the targeted detection and degradation of aberrant rRNAs contained within translationally defective ribosomes, thereby acting as a quality-control system.


The chemical reactions and pathways resulting in the breakdown of N-alpha,N-alpha,N-alpha-trimethyl-L-histidine, also known as histidine betaine or hercynine, a trimethylated derivative of histidine.


hypoxanthine catabolic process

The chemical reactions and pathways resulting in the breakdown of hypoxanthine, 6-hydroxy purine, an intermediate in the degradation of adenylate. Its ribonucleoside is known as inosine and its ribonucleotide as inosinate.


sno(s)RNA catabolic process

The chemical reactions and pathways resulting in the breakdown of snoRNA, small nucleolar RNA, any of a class of small RNAs that are associated with the eukaryotic nucleus as components of small nucleolar ribonucleoproteins.


ureide catabolic process

The chemical reactions and pathways resulting in the breakdown of ureide, which is the organic form of nitrogen in nitrogen fixing and transporting plants with the release of ammonium.


2,5-dihydroxypyridine catabolic process to fumarate

The chemical reactions and pathways resulting in the breakdown of 2,5-dihydroxypyridine to form fumarate. 2,5-dihydroxypyridine is dioxygenated to give maleamate and formate; the maleamate from this reaction is then converted to maleate, which is then isomerized to fumurate.


cyanide catabolic process

The chemical reactions and pathways resulting in the breakdown of cyanide, NC-, the anion of hydrocyanic acid. Cyanide is a potent inhibitor of respiration.


thymidine catabolic process

The chemical reactions and pathways resulting in the breakdown of thymidine, deoxyribosylthymine thymine 2-deoxyriboside, a deoxynucleoside very widely distributed but occurring almost entirely as phosphoric esters in deoxynucleotides and deoxyribonucleic acid, DNA.


pteridine catabolic process

The chemical reactions and pathways resulting in the breakdown of pteridine, pyrazino(2,3-dipyrimidine), the parent structure of pterins and the pteroyl group.


heme B catabolic process

The chemical reactions and pathways resulting in the breakdown of heme b, a Fe(II) porphyrin complex readily isolated from the hemoglobin of beef blood, but also found in other proteins including other hemoglobins, myoglobins, cytochromes P-450, catalases, peroxidases as well as b type cytochromes.


atrazine catabolic process to isopropylamine

The chemical reactions and pathways resulting in the breakdown of atrazine, a triazine ring-containing herbicide, into isopropylamine.


adenine catabolic process

The chemical reactions and pathways resulting in the breakdown of adenine, 6-aminopurine, one of the 5 main bases found in nucleic acids and a component of numerous important derivatives of its corresponding ribonucleoside, adenosine.


aspyridone A catabolic process

The chemical reactions and pathways resulting in the breakdown of aspyridone A.


cyanogenic glycoside catabolic process

The chemical reactions and pathways resulting in the breakdown of cyanogenic glycosides, any glycoside containing a cyano group that is released as hydrocyanic acid on acid hydrolysis; such compounds occur in the kernels of various fruits.


bacteriochlorophyll catabolic process

The chemical reactions and pathways resulting in the breakdown of bacteriochlorophyll, any of the chlorophylls of photosynthetic bacteria. They differ structurally from the chlorophylls of higher plants.


heme a catabolic process

The chemical reactions and pathways resulting in the breakdown of heme a, a derivative of heme found in cytochrome aa3.


nitroimidazole catabolic process

The chemical reactions and pathways resulting in the breakdown of nitroimidazoles, imidazole derivatives with a nitro group attached to one ring.


corrin catabolic process

The chemical reactions and pathways resulting in the breakdown of corrin, C19H22N4, the fundamental heterocyclic skeleton of the corrinoids. It consists of four reduced pyrrole rings joined into a macrocyclic ring. Corrin is the core of the vitamin B12 molecule.


siRNA catabolic process

The chemical reactions and pathways resulting in the breakdown of small interfering RNA transcripts (siRNAs).


mitochondrial ncRNA surveillance

The set of processes involved in identifying and degrading defective or aberrant non-coding RNA transcripts (ncRNAs) within the mitochondrion.


nuclear histone mRNA catabolic process

The chemical reactions and pathways resulting in the breakdown of histone messenger RNA (mRNA) within the nucleus.


cytoplasmic RNA surveillance

The set of processes involved in identifying and degrading defective or aberrant RNAs within the cytoplasm.


nuclear-transcribed mRNA catabolic process, meiosis-specific transcripts

The chemical reactions and pathways resulting in the selective degradation of meiosis-specific transcripts during vegetative growth, by a mechanism that requires determinant of selective removal (DSR) sequences in the targeted mRNAs and involves a YTH family protein.


pre-mRNA catabolic process

The chemical reactions and pathways resulting in the breakdown of the unspliced pre-mRNA (pre-messenger RNA).


mitochondrial DNA catabolic process

The chemical reactions and pathways resulting in the breakdown of mitochondrial DNA.


isoquinoline alkaloid catabolic process

The chemical reactions and pathways resulting in the breakdown of isoquinoline alkaloids, alkaloid compounds that contain bicyclic N-containing aromatic rings and are derived from a 3,4-dihydroxytyramine (dopamine) precursor that undergoes a Schiff base addition with aldehydes of different origin.


nuclear polyadenylation-dependent snoRNA catabolic process

The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of a small nucleolar RNA (snoRNA) molecule, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target snoRNA.


exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-independent decay

The chemical reactions and pathways resulting in the breakdown of the transcript body of a nuclear-transcribed mRNA that occurs independent of deadenylation, but requires decapping followed by transcript decay.


nitric oxide catabolic process

The chemical reactions and pathways resulting in the breakdown of nitric oxide, nitrogen monoxide (NO), a colorless gas only slightly soluble in water.


carbamoyl phosphate catabolic process

The chemical reactions and pathways resulting in the breakdown of carbamoyl phosphate, an intermediate in the urea cycle and other nitrogen compound metabolic pathways.


2,5-dihydroxypyridine catabolic process

The chemical reactions and pathways resulting in the breakdown of 2,5-dihydroxypyridine.


tRNA surveillance

The set of processes involved in identifying and degrading defective or aberrant tRNAs.


carbazole catabolic process

The chemical reactions and pathways resulting in the breakdown of carbazole, a heterocyclic aromatic compound containing a dibenzopyrrole system that is produced during coal gasification and is present in cigarette smoke. Coal tar produced at high temperature contains an average of 1.5% carbazole. It is used widely in synthesis of dyes, pharmaceuticals, and plastics and is a suspected carcinogen.


s-triazine compound catabolic process

The chemical reactions and pathways resulting in the breakdown of any s-triazine compound. These compounds include many pesticides of widespread use in agriculture, and are characterized by a symmetrical hexameric ring consisting of alternating carbon and nitrogen atoms.


5-methylcytosine catabolic process

The chemical reactions and pathways resulting in the breakdown of 5-methylcytosine, a methylated base of DNA.


target-directed miRNA degradation

The process in which a miRNA is targeted for degradation by a non-coding RNA or mRNA. The binding of an RNA to a target miRNA within a RISC complex results in either ubiquitin-mediated degradation of AGO protein or the displacement of the 3' end of the miRNA, exposing it to nucleases.


deoxyuridine catabolic process

The chemical reactions and pathways resulting in the breakdown of deoxyuridine, 2-deoxyribosyluracil, one of the four major nucleosides of DNA.


indole phytoalexin catabolic process

The chemical reactions and pathways resulting in the breakdown of indole phytoalexins, any indole compound produced by plants as part of their defense response.


siroheme catabolic process

The chemical reactions and pathways resulting in the breakdown of siroheme, a tetrahydroporphyrin with adjacent, reduced pyrrole rings.


tetrahydrobiopterin catabolic process

The chemical reactions and pathways resulting in the breakdown of tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine.


cobalamin catabolic process

The chemical reactions and pathways resulting in the breakdown of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.


nuclear polyadenylation-dependent antisense transcript catabolic process

The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of an antisense transcript, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target antisense transcript.


guanine catabolic process

The chemical reactions and pathways resulting in the breakdown of guanine, 2-amino-6-hydroxypurine, a purine that is one of the five main bases found in nucleic acids and a component of a number of phosphorylated guanosine derivatives whose metabolic or regulatory functions are important.


nuclear-transcribed mRNA catabolic process, exonucleolytic, 5'-3'

The chemical reactions and pathways resulting in the breakdown of the mRNA transcript body that occurs when the 5' end is not protected by a 5'-cap; degradation proceeds in the 5' to 3' direction.


nuclear-transcribed mRNA catabolic process, non-stop decay

The chemical reactions and pathways resulting in the breakdown of the transcript body of a nuclear-transcribed mRNA that is lacking a stop codon.


melatonin catabolic process

The chemical reactions and pathways resulting in the breakdown of melatonin (N-acetyl-5-methoxytryptamine).


atrazine catabolic process

The chemical reactions and pathways resulting in the breakdown of atrazine, a triazine ring-containing herbicide.


mitochondrial mRNA surveillance

The set of processes involved in identifying and degrading messenger RNA (mRNA) within the mitochondrion.


cocaine catabolic process

The chemical reactions and pathways resulting in the breakdown of cocaine, an alkaloid obtained from the dried leaves of the shrub Erythroxylon coca. It is a cerebral stimulant and narcotic.


deoxyadenosine catabolic process

The chemical reactions and pathways resulting in the breakdown of deoxyadenosine, 2-deoxyribosyladenine, one of the four major nucleosides of DNA.


cyanuric acid catabolic process

The chemical reactions and pathways resulting in the breakdown of cyanuric acid, a potential degradation product of triazine herbicides.


heme O catabolic process

The chemical reactions and pathways resulting in the breakdown of heme O, a derivative of heme containing a 17-carbon hydroxyethylfarnesyl side chain at position 8 of the tetrapyrrole macrocycle.


spina bifida cystica

A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.


posterior meningocele

Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.


true myelomeningocele

A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation).


hemi-myelomeningocele

A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myelomeningocele on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myelomeningocele.


non-terminal myelocystocele

A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis.


papillary meningioma of the cerebellum

A papillary meningioma that affects the cerebellum.


Stage II Uterine Corpus Leiomyosarcoma AJCC v8

Stage II includes: T2, N0, M0. T2: Uterine corpus leiomyosarcoma with tumor extending beyond the uterus, within the pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Non-Neoplastic Dental Disorder

A non-neoplastic disorder that affects the teeth and/or the periodontal tissues.  Representative examples include odontoma, enamel hypoplasia, and periodontitis.


Cemento-osseous dysplasia

A non-neoplastic fibro-osseous lesion of the tooth-bearing regions of the gnathic bones. It is characterized by a variably cellular fibrous stroma with areas of swirling and/or loose collagen. Within the stroma are mineralizing tissues consisting of osteoid, bone, and cementum-like material. As the lesions mature, they become increasingly calcified. (WHO 2017)


acute pericementitis

An acute inflammatory process that affects the tissues that surround and support the teeth.


suppurative periapical periodontitis

Localized collection of pus in the tissues that enclose the root of a tooth.


chronic periodontitis

A chronic inflammatory process that affects the tissues that surround and support the teeth.


Odontoma, Compound

A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. It usually affects children and adolescents. It is characterized by the presence of tooth-like structures. Treatment consists of local excision. Recurrences have not been reported.


Periodontal infection

An infectious process affecting the tissues that surround and support the teeth.


Dental disorders congenital

A non-neoplastic dental disorder that is present at birth.


Dental pain and sensation disorders

A term that refers to disorders that result in pain and abnormal sensation in the teeth and/or periodontal tissues.


florid cemento-osseous dysplasia

Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.


Dental and Periodontal Infection

An infectious process that affects the teeth and/or the periodontal tissues.


Periapical Cemento-Osseous Dysplasia

Cemento-osseous dysplasia affecting the apical areas of mandibular anterior teeth. (WHO 2017)


Chronic pericoronitis

Long-term inflammation of the gingiva surrounding the crown of a tooth, usually of an incompletely erupted tooth.


Dental Developmental Disorder

A disorder of the teeth arising during odontogenesis.


Dental Fistula

Localized collection of pus in the tissues that enclose the root of a tooth and is associated with the presence of a sinus tract.


Complex odontoma

A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. It is one of the most common odontogenic tumors and it usually affects children, adolescents, and young adults. It is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur.


Hypotensive Shock

Shock resulting from abnormally low blood pressure.


intracellular manganese ion homeostasis

A homeostatic process involved in the maintenance of a steady state level of manganese ions within a cell.


Catalysis of the reaction: (S)-scoulerine + S-adenosyl-L-methionine(1+) = (S)-tetrahydrocolumbamine + S-adenosyl-L-homocysteine + H+.


Catalysis of the reaction: beta-nicotinamide D-ribonucleotide + H2O = beta-nicotinate D-ribonucleotide + NH3.


left anterior basal body

Any ciliary basal body that is part of a left anterior flagellum found in Giardia species (trophozoite stage).


Polymorphic lymphoproliferative disorder following transplant

A clonal B-cell lymphoproliferative disorder arising as a result of post-transplant immunosuppression therapy. It is characterized by destructive infiltration of lymph nodes and extranodal sites by a polymorphic B-cell infiltrate composed of small and medium sized lymphocytes, immunoblasts, and plasma cells. In some cases, reduction of the immunosuppression therapy may lead to regression of the lesions. In other cases the lesions may progress to lymphoma.


Refractory Polymorphic Post-Transplant Lymphoproliferative Disorder

A polymorphic post-transplant lymphoproliferative disorder that does not respond to treatment.


Recurrent Polymorphic Post-Transplant Lymphoproliferative Disorder

The reemergence of polymorphic post-transplant lymphoproliferative disorder after a period of remission.


superior vesical artery

An artery that supplies blood to the upper urinary bladder.


middle colic artery

The middle colic artery is a branch of the superior mesenteric artery that mostly supplies the transverse colon. It arises just below the pancreas, and, passing downward and forward between the layers of the transverse mesocolon, divides into two branches: right and left. The right branch anastomoses with the right colic artery The left branch anastomoses with the left colic artery, a branch of the inferior mesenteric artery. The arches thus formed are placed about two fingers' breadth from the transverse colon, to which they distribute branches. [WP,unvetted].


congenital hypotrichosis with juvenile macular dystrophy

A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.


A protein complex that consists of an alphav-beta1 integrin complex bound to osteopontin.


renal interlobular vein

Any of the veins that parallel the interlobular arteries, receiving blood from the peritubular capillary plexus and empty into the arcuate veins.


renal venous blood vessel

Any member of the network of tubes that return blood from the renal tissues to the systemic circulation.


kidney arcuate vein

Any of the veins that parallel the arcuate arteries, receive blood from the interlobular veins and straight venules, and terminate in the interlobar veins.


inner renal medulla vasa recta

A vasa recta that is part of a inner medulla of kidney [Automatically generated definition].


outer renal medulla vasa recta

A vasa recta that is part of a outer medulla of kidney [Automatically generated definition].


renal cortex vein

Artery that receives blood from the renal cortex[MP, modified].


MHC class Ib protein binding, via lateral surface

Binding to a major histocompatibility complex class Ib molecules via the lateral surface.


Pathologic Stage IIIA Gastric Cancer AJCC v8

Stage IIIA includes: (T2, N3a, M0); (T3, N2, M0); (T4a, N1, M0); (T4a, N2, M0); (T4b, N0, M0). T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs.  N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Gastric Cancer by AJCC v8 Stage

A term that refers to the staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition.


Postneoadjuvant Therapy Stage III Gastric Cancer AJCC v8

Stage III includes: (T4a, N1, M0); (T3, N2, M0); (T2, N3, M0); (T4b, N0, M0); (T4b, N1, M0); (T4a, N2, M0); (T3, N3, M0); (T4b, N2, M0); (T4b, N3, M0); (T4a, N3, M0). T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage 0 Gastric Cancer AJCC v8

Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria, high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage IVB Gastric Cancer AJCC v8

Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


Pathologic Stage IIIB Gastric Cancer AJCC v8

Stage IIIB includes: (T1, N3b, M0); (T2, N3b, M0); (T3, N3a, M0); (T4a, N3a, M0); (T4b, N1, M0); (T4b, N2, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IIA Gastric Cancer AJCC v8

Stage IIA includes: (T1, N2, M0); (T2, N1, M0); (T3, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage III Gastric Cancer AJCC v8

Stage III includes: (T3, N1, N2, or N3, M0); (T4a, N1, N2, or N3, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IIIC Gastric Cancer AJCC v8

Stage IIIC includes: (T3, N3b, M0); (T4a, N3b, M0); (T4b, N3a, M0); (T4b, N3b, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IV Gastric Cancer AJCC v8

Stage IV includes: Any T, Any N. M1: Distant metastasis. (AJCC 8th ed.)