name: autosomal recessive cutis laxa type 2, classic type


autosomal dominant cutis laxa

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

description: Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.


autosomal recessive cutis laxa type 2D

description: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.


name: cutis laxa, autosomal recessive, type 1A

description: An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.


arterial tortuosity syndrome

description: Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.


autosomal recessive cutis laxa type 2B

description: Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.


RIN2 syndrome

description: RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.


name: cutis laxa, autosomal recessive, type 1d


PYCR1-related de Barsy syndrome

description: Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.


autosomal recessive cutis laxa type 2A

description: An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.


autosomal recessive cutis laxa type 1

description: Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).


cutis laxa, autosomal dominant 2

description: Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.


autosomal recessive cutis laxa type 2C

description: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.


placental vein

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

description: A vein that is part of the placenta.


Paratesticular Leiomyosarcoma

description: A leiomyosarcoma that arises from the paratesticular region.


pronephric distal early tubule

description: A distal early tubule that is part of a pronephros.


name: cellular congenital mesoblastic nephroma

description: A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present.


name: microcephaly 22, primary, autosomal recessive


celiac lymph node

description: The visceral glands that are associated with the branches of the celiac artery, including the gastric, hepatic, and pancreaticolienal (splenic) lymph nodes.


name: chromosome Xp11.23-p11.22 duplication syndrome

description: A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.


chromosome X disorder

description: Chromosomal disorder in which chromosome X is affected.


name: paternal uniparental disomy of chromosome X


description: X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.


name: maternal uniparental disomy of chromosome X


name: X-linked diffuse leiomyomatosis-Alport syndrome

description: A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.


name: partial duplication of the long arm of chromosome X

description: Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.


name: partial monosomy of the short arm of chromosome X


Xq27.3q28 duplication syndrome

description: Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.


name: X-linked acrogigantism due to Xq26 microduplication


49,XXXYY syndrome

description: 49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.


tetrasomy X

description: Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).


name: partial deletion of the long arm of chromosome X


Xq12-q13.3 duplication syndrome

description: Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.


Xp22.3 microdeletion syndrome

description: Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.


X small rings

description: X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.


name: atypical Norrie disease due to monosomy Xp11.3

description: Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.


distal Xq28 microduplication syndrome

description: Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.


description: X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.


name: partial duplication of the short arm of chromosome X


Vaginal Germ Cell Tumor

description: A germ tumor that arises from the vagina.


Vaginal Dermoid Cyst

description: 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

description: An epithelium that is part of a pedal digit 4.


name: mesonephric glomerular capillary formation

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

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


name: positive regulation of leukocyte adhesion to arterial endothelial cell

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


name: positive regulation of leukocyte adhesion to vascular endothelial cell

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


name: negative regulation of leucine-tRNA ligase activity

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


innermost intercostal muscle

description: 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.


name: negative regulation of astrocyte activation

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


name: modulation by symbiont of host salicylic acid-mediated defense response

description: 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.


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

description: 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.


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

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


branch of middle cerebral artery

description: Any artery arising from the middle cerebral artery.


anterior temporal artery

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


posterior temporal artery

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


posterior parietal artery

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


anterior parietal artery

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


ocular angle artery

description: 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.


posterior auricular nerve

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

description: 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.


peptidyl-histidine autophosphorylation

description: 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

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

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


Bolwig's organ morphogenesis

description: 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

description: 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.


name: positive regulation of transcription elongation by RNA polymerase I

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


name: autosomal dominant cerebellar ataxia, deafness and narcolepsy

description: 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

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


histone H2AXY142 phosphatase activity

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


histone phosphatase activity

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


histone H2AXS140 phosphatase activity

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


Prostatic Pain

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

description: Pain in the prostate gland.


IgE B cell receptor complex

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

description: 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.


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

description: 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

description: 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.


name: macrolide transmembrane transporter complex

description: 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.


name: establishment or maintenance of cytoskeleton polarity involved in mesendodermal cell migration

description: 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).


epithelioid cell synovial sarcoma

description: A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures.


protein storage vacuole

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


plant-type vacuole

description: 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

description: 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

description: 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.


name: Persistent Atrial Fibrillation by ECG Finding

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


glycyrrhetinate catabolic process

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


name: positive regulation of substance P secretion

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


name: positive regulation of substance P secretion, neurotransmission

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


name: positive regulation of prolactin secretion

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


name: positive regulation of thyroid-stimulating hormone secretion

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


name: positive regulation of calcitonin secretion

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


name: positive regulation of glucagon secretion

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


name: excitation of vasomotor center by aortic body chemoreceptor signaling

description: 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.


name: excitation of vasomotor center by chemoreceptor signaling

description: 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.


name: excitation of vasomotor center by carotid body chemoreceptor signaling

description: 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

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


primary hyperoxaluria type 2

description: 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.


name: negative regulation of dopamine uptake involved in synaptic transmission

description: 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

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


inhibition of serotonin uptake

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


name: negative regulation of catecholamine uptake involved in synaptic transmission

description: 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

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


inhibition of norepinephrine uptake

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


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

description: 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

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


name: negative regulation of amino acid uptake involved in synaptic transmission

description: 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.


name: negative regulation of glutamate uptake involved in transmission of nerve impulse

description: 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.


name: inhibition of dopamine uptake involved in synaptic transmission

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


inhibition of acetylcholine uptake

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


name: Disseminated varicella zoster vaccine virus infection

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


name: negative regulation of eosinophil chemotaxis

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


Gonadal Myoid Stromal Tumor

description: A rare, benign, well-circumscribed tumor that arises from the testis. It is characterized by the presence of fascicles of spindle cells showing muscle cell differentiation. It lacks sex cord differentiation.


midchain alkane hydroxylase activity

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


spleen secondary B follicle

description: 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

description: A lymphoid follicle that contains a germinal center.


lymph node secondary follicle

description: A secondary follicle that is located in a lymph node.


name: hereditary hypotrichosis with recurrent skin vesicles

description: 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.


acquired lactic acidosis

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


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).


all-trans-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.


all-trans-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.


all-trans-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.


acitretin

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.


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.


all-trans-retinyl tetradecanoate

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.


retinoic acid

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).


all-trans-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).


dorsal nasal artery

description: 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

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


frontal artery

description: 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

description: 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

description: A neoplasm that arises from the periampullary region and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential..


m-cresol catabolic process

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


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


orsellinate decarboxylase activity

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


Atypical Type A Thymoma

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


name: Pathologic Stage I Merkel Cell Carcinoma AJCC v8

description: 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

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


joint of rib

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


luteolin O-methyltransferase activity

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


mid cerebral vein

description: 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

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


Cellular neurothekeoma

description: A nerve sheath myxoma with increased cellularity.


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


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


glucosylglycerate hydrolase activity

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


name: juvenile hormone epoxide hydrolase activity

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


leukotriene-A4 hydrolase activity

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


pyrene-4,5-epoxide hydrolase activity

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


cis-stilbene-oxide hydrolase activity

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


9,10-epoxystearate hydrolase activity

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


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

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


isochorismatase activity

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


phenanthrene-epoxide hydrolase activity

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


mannosylglycerate hydrolase activity

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


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


epoxide hydrolase B activity

description: 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

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


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

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


description: 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

description: 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.


name: aurachin C epoxide hydrolase/isomerase activity

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


trans-epoxysuccinate hydrolase activity

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


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


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


name: cutaneous undifferentiated pleomorphic sarcoma

description: 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

description: A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures.


name: autosomal recessive limb-girdle muscular dystrophy type 2Q

description: 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.


name: Barrett Esophagus-Indefinite for Dysplasia

description: 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

description: 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.


name: High Grade Dysplasia in Ulcerative Colitis

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


Moderate dysplasia of colon

description: 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.


name: Barrett Esophagus-Negative for Dysplasia

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


name: Barretts esophagus with high grade dysplasia

description: 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.


name: Crohn Disease-Associated Dysplasia of the Colorectum

description: 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

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


name: Low Grade Dysplasia in Inflammatory Bowel Disease

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


name: Ulcerative Colitis-Associated Dysplasia of the Colorectum

description: 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

description: 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

description: 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.


name: Low Grade Dysplasia in Ulcerative Colitis

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


Gastric dysplasia

description: 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)


name: Inflammatory Bowel Disease-Associated Dysplasia of the Colorectum

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


name: Barretts esophagus with low grade dysplasia

description: 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

description: 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

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


Dysplasia of rectum

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


name: High Grade Dysplasia in Inflammatory Bowel Disease

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


Liver Dysplastic Foci

description: 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

description: 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

description: 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

description: 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.


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


peroxisome biogenesis disorder 7B

description: An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


dioctophymiasis

description: A disease caused by infection with Dioctophyme renale.


Enoplea infectious disease

description: Infections with nematodes of the order enoplida.


trichuriasis

description: 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

description: 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

description: A infectious disease involving the Capillaria.


Trichinella spiralis infectious disease

description: An disease or disorder caused by infection with Trichinella spiralis.


description: 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+.


description: 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+.


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


name: heterotaxy, visceral, 10, autosomal, with male infertility


disulfoglucosamine-6-sulfatase activity

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


name: malignant central nervous system mesenchymal, non-meningothelial neoplasm

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


name: central nervous system melanocytic neoplasm

description: 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.


name: central nervous system extraskeletal osteosarcoma

description: An osteosarcoma arising from the brain or spinal cord.


diencephalic cancer

description: A cancer involving a diencephalon.


meningeal melanomatosis

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


name: rhabdoid tumor predisposition syndrome 2

description: Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.


cerebral sarcoma

description: A sarcoma involving a telencephalon.


cerebral lymphoma

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


name: primary intracranial sarcoma, DICER1-mutant

description: 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

description: A rare sarcoma arising from the meninges.


malignant leptomeningeal tumor

description: A primary or metastatic malignant tumor involving the leptomeninges.


anaplastic meningioma

description: 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

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


parasagittal meningioma

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


choroid plexus meningioma

description: A meningioma that affects the choroid plexus.


intraventricular meningioma

description: A meningioma that affects the ventricles of the brain.


spinal meninges cancer

description: A malignant neoplasm involving the meninx of spinal cord.


name: primary melanoma of the central nervous system

description: 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

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


adult leptomeningeal melanoma

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


cerebral hemisphere cancer

description: A cancer that involves the cerebral hemisphere.


childhood brain stem neoplasm

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


cerebellopontine angle embryonal tumor

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


lateral ventricle meningioma

description: A meningioma that affects the lateral ventricle of the brain.


primary skin meningioma

description: A rare extracranial meningioma that arises from the skin.


malignant carotid body paraganglioma

description: A carotid body paraganglioma that metastasizes to other anatomic sites.


brainstem cancer

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


meningeal melanocytoma

description: 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

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


frontal convexity meningioma

description: A meningioma that affects the frontal sulcus.


infratentorial cancer

description: 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

description: A sarcoma that arises from the central nervous system.


name: cerebral primitive neuroectodermal tumor

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


cancer of cerebellum

description: A cancer that involves the cerebellum.


name: intracranial extraskeletal myxoid chondrosarcoma

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


intracerebral cystic meningioma

description: A cystic meningioma that grows within the cerebral hemispheres.


cerebral ventricle cancer

description: 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.


name: embryonal tumor with multilayered rosettes

description: A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a DICER1 mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life.


thalamic cancer

description: A cancer involving a dorsal plus ventral thalamus.


parietal lobe cancer

description: A malignant neoplasm involving the parietal lobe


cerebral convexity meningioma

description: A meningioma that affects the cerebral sulcus.


pituitary cancer

description: 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

description: A sarcoma arising from the leptomeninges.


brain sarcoma

description: A sarcoma arising from the brain.


diffuse meningeal melanocytosis

description: 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

description: A meningioma that affects the cerebral hemispheres.


central nervous system rhabdomyosarcoma

description: A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system.


leptomeningeal melanoma

description: A melanoma that arises from leptomeningeal melanocytes.


malignant jugulotympanic paraganglioma

description: A jugulotympanic paraganglioma that metastasizes to other anatomic sites.


sarcomatosis of the meninges

description: 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

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


choroid plexus cancer

description: A malignant neoplasm involving the choroid plexus


paragangliomas 4

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


malignant tumor of meninges

description: A cancer that involves the meningeal cluster.


central nervous system leiomyosarcoma

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


paragangliomas 2

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


pediatric leptomeningeal melanoma

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


name: central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor

description: A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone.


retinitis pigmentosa 27

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


Stage I Ureter Cancer AJCC v8

description: 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.)


name: Stage I Renal Pelvis and Ureter Cancer AJCC v8


Rhino-Deadlock-Cutoff Complex

description: 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.


name: Charcot-Marie-Tooth disease axonal type 2S

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


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

description: 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.


name: negative regulation of synaptic vesicle fusion to presynaptic active zone membrane

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


name: negative regulation of cytotoxic T cell degranulation

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


name: negative regulation of natural killer cell degranulation

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


name: negative regulation of constitutive secretory pathway

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


name: positive regulation of dense core granule exocytosis

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


name: positive regulation of calcium ion-dependent exocytosis of neurotransmitter

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


name: regulation of exocytic insertion of neurotransmitter receptor to postsynaptic membrane

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


name: positive regulation of mast cell degranulation in another organism

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


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

description: 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.


name: regulation of dense core granule exocytosis

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


name: regulation of cytotoxic T cell degranulation

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


name: modulation of mast cell degranulation in another organism

description: 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.


name: negative regulation of eosinophil degranulation

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


name: regulation of presynaptic dense core granule exocytosis

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


name: positive regulation of cytotoxic T cell degranulation

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


name: negative regulation of calcium ion-dependent exocytosis of neurotransmitter

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


negative regulation of exocyst assembly

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


name: negative regulation of synaptic vesicle priming

description: 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.


name: positive regulation of acrosomal vesicle exocytosis

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


name: negative regulation of basophil degranulation

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


name: negative regulation of exosomal secretion

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


name: regulation of acrosomal vesicle exocytosis

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


regulation of basophil degranulation

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


name: positive regulation of constitutive secretory pathway

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


name: regulation of postsynaptic dense core vesicle exocytosis

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


name: positive regulation of neutrophil degranulation

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


name: positive regulation of basophil degranulation

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


name: negative regulation of dense core granule exocytosis

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


name: kidney smooth muscle cell differentiation

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


name: Stage III Intermediate Grade Adult Non-Hodgkin's Lymphoma


variola minor infection

description: A orthopoxvirus that causes a milder clinical syndrome than smallpox.


name: PRKAR1A-Inactivated Pigmented Epithelioid Melanocytoma

description: A pigmented epithelioid melanocytoma that is associated with PRKAR1A gene inactivation.


Timothy syndrome type 2

description: Classical Timothy syndrome without cutaneous syndactyly.


long QT syndrome 9

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


Timothy syndrome type 1

description: Classical Timothy syndrome with cutaneous syndactyly.


long QT syndrome 10

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


Jervell and Lange-Nielsen syndrome 1

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


long QT syndrome 6

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


Timothy syndrome, atypical type

description: 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

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


long QT syndrome 13

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


long QT syndrome 15

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


Timothy syndrome, classic type

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


name: ectopia lentis 2, isolated, autosomal recessive

description: 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

description: 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

description: 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

description: 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

description: 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

description: 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

description: 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

description: 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

description: 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

description: A basal cell carcinoma that arises from the eyelid.


Stage IIIA Eyelid Carcinoma AJCC v8

description: 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

description: 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

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


Stage IIB Eyelid Carcinoma AJCC v8

description: 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

description: 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

description: 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

description: 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

description: 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

description: 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

description: 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

description: 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

description: 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

description: 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

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


spina bifida cystica

description: 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

description: 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

description: 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).


name: saccular spinal dysraphism with a stalk to the dome

description: A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation).


hemi-myelomeningocele

description: 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

description: 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

description: A papillary meningioma that affects the cerebellum.


name: Stage II Uterine Corpus Leiomyosarcoma AJCC v8

description: 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

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


Cemento-osseous dysplasia

description: 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

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


suppurative periapical periodontitis

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


Odontoma, Compound

description: 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

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


Dental disorders congenital

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


Dental pain and sensation disorders

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


florid cemento-osseous dysplasia

description: 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.


Gigantiform Cementoma

description: An extremely rare, benign, rapidly progressing fibro-osseous lesion that arises from the jaws as a multifocal expansile growth in children or adolescents. It results in significant deformity, orbital distortion, and possible airway involvement. An autosomal dominant inheritance has been proposed. Histologically, it is characterized by the presence of immature bony trabeculae and cementum-like calcifications within a hypercellular fibroblastic stroma. It shares morphological features with florid cemento-osseous dysplasia, but in florid cemento-osseous dysplasia the degree of expansion is less prominent and patients are usually older.


Dental and Periodontal Infection

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


chronic periodontitis

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


Segmental Odontomaxillary Dysplasia

description: A developmental abnormality that is characterized by segmental enlargement in the premolar/molar region of the maxilla and associated with dento-osseous abnormalities.


Periapical Cemento-Osseous Dysplasia

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


Chronic pericoronitis

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


Dental Developmental Disorder

description: A disorder of the teeth arising during odontogenesis.


Dental Fistula

description: 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

description: 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

description: Shock resulting from abnormally low blood pressure.


intracellular manganese ion homeostasis

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


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


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


left anterior basal body

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


name: Polymorphic lymphoproliferative disorder following transplant

description: 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.


name: Refractory Polymorphic Post-Transplant Lymphoproliferative Disorder

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


name: Recurrent Polymorphic Post-Transplant Lymphoproliferative Disorder

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


superior vesical artery

description: An artery that supplies blood to the upper urinary bladder.


middle colic artery

description: 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].


name: congenital hypotrichosis with juvenile macular dystrophy

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


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


renal interlobular vein

description: 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

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


kidney arcuate vein

description: 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

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


outer renal medulla vasa recta

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


renal cortex vein

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


name: MHC class Ib protein binding, via lateral surface

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


name: Pathologic Stage IIIA Gastric Cancer AJCC v8

description: 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

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


name: Postneoadjuvant Therapy Stage III Gastric Cancer AJCC v8

description: 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

description: 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.)


name: Clinical Stage IVB Gastric Cancer AJCC v8

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


name: Pathologic Stage IIIB Gastric Cancer AJCC v8

description: 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.)


name: Pathologic Stage IIA Gastric Cancer AJCC v8

description: 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.)


name: Clinical Stage III Gastric Cancer AJCC v8

description: 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.)


name: Pathologic Stage IIIC Gastric Cancer AJCC v8

description: 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.)


name: Pathologic Stage IV Gastric Cancer AJCC v8

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


name: Clinical Stage IIA Gastric Cancer AJCC v8

description: Stage IIA includes: (T1, N1, N2, or N3, M0); (T2, N1, N2, or N3, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. 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.)


name: Postneoadjuvant Therapy Stage I Gastric Cancer AJCC v8

description: Stage I includes: (T1, N0, M0); (T2, N0, M0); (T1, N1, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage IVA Gastric Cancer AJCC v8

description: Stage IVA includes: (T4b, Any N, M0): T4b: Tumor invades adjacent structures/organs. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIB Gastric Cancer AJCC v8

description: Stage IIB includes: (T1, N3a, M0); (T2, N2, M0); (T3, N1, M0); (T4a, 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. T4a: Tumor invades the serosa (visceral peritoneum). 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.)


name: Postneoadjuvant Therapy Stage II Gastric Cancer AJCC v8

description: Stage II includes: (T3, N0, M0); (T2, N1, M0); (T1, N2, M0); (T4a, N0, M0); (T3, N1, M0); (T2, N2, M0); (T1, N3, 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). 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.)


name: Pathologic Stage II Gastric Cancer AJCC v8

description: Stage II includes: IIA: (T1, N2, M0); (T2, N1, M0); (T3, N0, M0); IIB: (T1, N3a, M0); (T2, N2, M0); (T3, N1, M0); (T4a, 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. T4a: Tumor invades the serosa (visceral peritoneum). 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.)


Clinical Stage I Gastric Cancer AJCC v8

description: Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Gastric Cancer by AJCC v8 Postneoadjuvant Therapy Stage

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


name: Pathologic Stage IA Gastric Cancer AJCC v8

description: Stage IA includes: (T1, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage II Gastric Cancer AJCC v8

description: Stage II includes: IIA: (T1, N1, N2, or N3, M0); (T2, N1, N2, or N3, M0); IIB: (T3, N0, M0); (T4a, 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. T4a: Tumor invades the serosa (visceral peritoneum). 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.)


name: Clinical Stage IIB Gastric Cancer AJCC v8

description: Stage IIB includes: (T3, N0, M0); (T4a, N0, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage IV Gastric Cancer AJCC v8

description: Stage IV includes: IVA: (T4b, Any N, M0); IVB: (Any T, Any N, M1). T4b: Tumor invades adjacent structures/organs. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


name: Gastric Cancer by AJCC v8 Pathologic Stage

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


name: Pathologic Stage I Gastric Cancer AJCC v8

description: Stage I includes: IA: (T1, N0, M0); IB: (T1, N1, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage III Gastric Cancer AJCC v8

description: Stage III includes: IIIA: (T2, N3a, M0); (T3, N2, M0); (T4a, N1, M0); (T4a, N2, M0); (T4b, N0, M0); IIIB: (T1, N3b, M0); (T2, N3b, M0); (T3, N3a, M0); (T4a, N3a, M0); (T4b, N1, M0); (T4b, N2, M0); IIIC: (T3, N3b, M0); (T4a, N3b, M0); (T4b, N3a, M0); (T4b, N3b, 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. 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. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IB Gastric Cancer AJCC v8

description: Stage IB includes: (T1, N1, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Gastric Cancer by AJCC v8 Clinical Stage

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


name: Pathologic Stage 0 Gastric Cancer AJCC v8

description: 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.)


name: Postneoadjuvant Therapy Stage IV Gastric Cancer AJCC v8

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


polyazaalkane

Any azaalkane in which two or more carbons in the chain are replaced by nitrogen.


name: Esophageal Atresia/Tracheoesophageal Fistula Type C

description: A type of esophageal atresia (EA) / tracheoesophageal fistula (TEF) in which the upper segment of the esophagus ends in a blind pouch and the lower segment is connected to the trachea via a TEF. This is the most common type of EA/TEF, which accounts for approximately 85 percent of cases.


name: Childhood Sclerosing Epithelioid Fibrosarcoma

description: A sclerosing epithelioid fibrosarcoma that occurs during childhood.


Sclerosing Epithelioid Fibrosarcoma

description: A well-circumscribed malignant fibroblastic neoplasm that usually arises from the soft tissue. It is characterized by the presence of nests of malignant epithelioid fibroblasts and sclerotic collagen stroma formation.


name: high-affinity phosphate:sodium symporter activity

description: Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction:phosphate(out) + Na+(out) = phosphate(in) + Na+(in). In high-affinity transport the transporter is able to bind the solute even if it is only present at very low concentrations.


name: positive regulation of establishment or maintenance of bipolar cell polarity regulating cell shape

description: Any process that activates or increases the frequency, rate or extent of establishment or maintenance of bipolar cell polarity regulating cell shape.


name: positive regulation of maintenance of bipolar cell polarity regulating cell shape

description: Any process that increases the frequency, rate or extent of maintenance of bipolar cell polarity regulating cell shape.


Tracheoarterial Fistula

description: An erosion through the tracheal wall into an artery.


copalyl diphosphate synthase activity

description: Catalysis of the reaction: all-trans-geranylgeranyl diphosphate = (+)-copalyl diphosphate.


name: HLA-E specific inhibitory MHC class Ib receptor activity

description: Combining with a MHC class Ib molecule of the HLA-A subclass to mediate signaling that inhibits activation of a lymphocyte.


name: inhibitory MHC class Ib receptor activity

description: Combining with a MHC class Ib protein complex to mediate signaling that inhibits activation of a lymphocyte.