methanesulfonate ester

An organosulfonic ester resulting from the formal condensation of methanesulfonic acid with the hydroxy group of an alcohol, phenol, heteroarenol, or enol.


isobutanol metabolic process

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

The chemical reactions and pathways involving isobutanol.


valine catabolic process to isobutanol

The chemical reactions and pathways resulting in the breakdown of valine to isobutanol.


isobutanol biosynthetic process

The chemical reactions and pathways resulting in the formation of isobutanol.


glycine catabolic process to isobutanol

The chemical reactions and pathways resulting in the breakdown of glycine to isobutanol.


congenital narrowing of cervical spinal canal

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

Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.


Vas deferens perforation

A rupture in the wall of the vas deferens.


Retinoblastoma, diffuse

A retinoblastoma characterized by the absence of a distinct retinal mass and the presence of malignant cells diffusely infiltrating the retina. It is often confused with uveitis and endophthalmitis, resulting in delayed diagnosis of the malignancy.


microtubule nucleation by spindle pole body

The 'de novo' formation of a microtubule, mediated by the spindle pole body.


The 'de novo' formation of a microtubule, in which tubulin heterodimers form metastable oligomeric aggregates from the centrosome.


The 'de novo' formation of a microtubule, in which tubulin heterodimers form metastable oligomeric aggregates from chromatin.


mitotic spindle-templated microtubule nucleation

The 'de novo' formation of a microtubule, in which tubulin heterodimers form metastable oligomeric aggregates from within the mitotic spindle.


double-stranded DNA helicase activity

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

Catalysis of the reaction: ATP + H2O = ADP + phosphate, in the presence of double-stranded DNA; drives the unwinding of a DNA helix.


adaptive immune memory response involving T cells and B cells

An immune response mediated by reactivated memory T cells and B cells and directed against a previously encountered antigen, being quicker and quantitatively better compared with the primary response.


adaptive immune memory response

An immune response directed against a previously encountered antigen, being quicker and quantitatively better compared with the primary response.


inositol 2-dehydrogenase activity

Catalysis of the reaction: myo-inositol + NAD+ = 2,4,6/3,5-pentahydroxycyclohexanone + H+ + NADH.


Catalysis of the reaction: 3-methylbutanol + NAD+ = 3-methylbutanal + NADH + H+. 3-methylbutanal is also known as isovaleraldehyde.


butanol dehydrogenase activity

Catalysis of the reaction: butanal + NADH + H+ => n-butanol + NAD+.


alcohol dehydrogenase activity, iron-dependent

Catalysis of the reaction: an alcohol + NAD+ = an aldehyde or ketone + NADH + H+, requiring the presence of iron.


alcohol dehydrogenase activity, metal ion-independent

Catalysis of the reaction: an alcohol + NAD+ = an aldehyde or ketone + NADH + H+; can proceed in the absence of a metal ion.


S-nitrosoglutathione reductase activity

Catalysis of the reaction: glutathione N-hydroxysulfenamide + NADH + H+ = S-nitrosoglutathione + NAD+.


xanthoxin dehydrogenase activity

Catalysis of the reaction: NAD+ + xanthoxin = (+)-abscisic aldehyde + H+ + NADH.


regulation of timing of meristematic phase transition

Any process that modulates the rate, frequency or extent of a change in identity of a meristem at a characteristic predetermined time point.


regulation of timing of transition from vegetative to reproductive phase

The process controlling the point in time during development when a vegetative meristem will change its identity to become an inflorescence or floral meristem, and/or the rate at which the change occurs.


histone H3K27 trimethyltransferase activity

Catalysis of the reaction: L-lysyl27-[histone H3] + 3 S-adenosyl-L-methionine = 3 H+ + N6,N6,N6-trimethyl-L-lysyl27-[histone H3] + 3 S-adenosyl-L-homocysteine. This reaction is the successive addition of three methyl groups to the unmethylated lysine residue at position 27 of histone H3, producing histone H3K27me3.


histone H3K27 monomethyltransferase activity

Catalysis of the reaction: L-lysyl27-[histone H3] + S-adenosyl-L-methionine = H+ + N6-methyl-L-lysyl27-[histone H3] + S-adenosyl-L-homocysteine. This reaction is the addition of a single methyl group to the unmethylated lysine residue at position 27 of histone H3, producing histone H3K27me.


histone H3K27 dimethyltransferase activity

Catalysis of the reaction: L-lysyl27-[histone H3] + 2 S-adenosyl-L-methionine = 2 H+ + N6,N6-dimethyl-L-lysyl27-[histone H3] + 2 S-adenosyl-L-homocysteine. This reaction is the successive addition of two methyl groups to the unmethylated lysine residue at position 27 of histone H3, producing histone H3K27me2.


non-professional antigen presenting cell antigen processing and presentation

The process in which a non-professional antigen presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. Non-professional antigen presenting cells include all cell types but dendritic cells, B cells, T cells, monocytes, macrophages, and neutrophils.


mesocestoidiasis

An disease or disorder caused by infection with Mesocestoides.


Refractory Vaginal Squamous Cell Carcinoma

Vaginal squamous cell carcinoma that is resistant to treatment.


glucosamine kinase activity

Catalysis of the reaction: ATP + D-glucosamine = ADP + D-glucosamine phosphate.


negative regulation of muscle cell chemotaxis toward tendon cell

Any process that stops, prevents or reduces the frequency, rate or extent of the directed movement of a muscle cell towards a tendon cell in response to an external stimulus. For example, when the muscle cell arrives at the target tendon cell, migration is arrested so that attachments can be made between the cells.


regulation of muscle cell chemotaxis toward tendon cell

Any process that modulates the frequency, rate or extent of muscle cell chemotaxis toward tendon cell.


positive regulation of skeletal muscle satellite cell proliferation

Any process that activates or increases the frequency, rate or extent of skeletal muscle satellite cell proliferation.


positive regulation of growth factor dependent skeletal muscle satellite cell proliferation

Any process that activates or increases the frequency, rate or extent of satellite cell proliferation; dependent on specific growth factor activity such as fibroblast growth factors and transforming growth factor beta.


fibrous meningioma

A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.


zinc D-Ala-D-Ala carboxypeptidase activity

Catalysis of the cleavage of the D-alanyl-D-alanine bond in (Ac)2-L-lysyl-D-alanyl-D-alanine.


Larsen-like syndrome, B3GAT3 type

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.


positive regulation of cellodextrin catabolic process

Any process that activates or increases the frequency, rate or extent of cellodextrin catabolic process.


positive regulation of cellodextrin metabolic process

Any process that activates or increases the frequency, rate or extent of cellodextrin metabolic process.


positive regulation of xylan catabolic process

Any process that activates or increases the frequency, rate or extent of xylan catabolic process.


positive regulation of arabinoxylan-containing compound catabolic process

Any process that activates or increases the frequency, rate or extent of arabinoxylan-containing compound catabolic process.


positive regulation of mannan catabolic process

Any process that activates or increases the frequency, rate or extent of mannan catabolic process.


positive regulation of glucuronoxylan catabolic process

Any process that activates or increases the frequency, rate or extent of glucuronoxylan catabolic process.


positive regulation of glucuronoarabinoxylan catabolic process

Any process that activates or increases the frequency, rate or extent of glucuronoarabinoxylan catabolic process.


positive regulation of glucomannan catabolic process

Any process that activates or increases the frequency, rate or extent of glucomannan catabolic process.


primary ciliary dyskinesia 13

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.


kanamycin biosynthetic process

The chemical reactions and pathways resulting in the formation of kanamycin.


aminoglycoside antibiotic biosynthetic process

The chemical reactions and pathways resulting in the formation of an aminoglycoside antibiotic, any member of a group of broad spectrum antibiotics, of similar toxicity and pharmacology, that contain an aminodeoxysugar, an amino- or guanidino-substituted inositol ring, and one or more residues of other sugars. The group includes streptomycin, neomycin, framycetin, kanamycin, paromomycin, and gentamicin.


gentamycin biosynthetic process

The chemical reactions and pathways resulting in the formation of gentamycin.


neomycin biosynthetic process

The chemical reactions and pathways resulting in the formation of neomycin.


paromomycin biosynthetic process

The chemical reactions and pathways resulting in the formation of paromomycin.


2:1 Atrioventricular Block by ECG Finding

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

An electrocardiographic finding of a supraventricular rhythm where the ratio of impulses generated above the atrioventricular node to the number of impulses conducted through to the ventricles is 2:1. This is manifested on the ECG as 2 P waves per QRS complex. (CDISC)


negative regulation of lactation

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


Myeloblasts 10-19 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a peripheral blood sample are immature mononuclear cells of myeloid origin.


Myeloblasts 5-19 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5-19 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


Factor V Inactivation

Presence of inactivating antibodies to factor V in the blood.


acquired factor V deficiency

An acquired coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.


decanoate-[HmqF protein] ligase activity

Catalysis of the reaction: decanoate + ATP(4-) + an HmqF protein <=> AMP(2-) + diphosphoric acid + a decanoyl-HmqF protein.


butyryl-CoA biosynthetic process

The chemical reactions and pathway resulting in the formation of butyryl-CoA.


butyryl-CoA biosynthetic process from acetyl-CoA

The chemical reactions and pathway resulting in the formation of butyryl-CoA, starting from acetyl-CoA.


protein-N(PI)-phosphohistidine-mannose phosphotransferase system transporter activity

Catalysis of the PEP-dependent, phosphoryl transfer-driven transport of substances across a membrane. The transport happens by catalysis of the reaction: protein N-phosphohistidine + mannose(out) = protein histidine + mannose phosphate(in). This differs from primary and secondary active transport in that the solute is modified during transport.


myenteric nerve plexus of appendix

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

Myenteric nerve plexus that is located in the vermiform appendix.


myenteric nerve plexus of anorectum

Myenteric nerve plexus that is located in the anorectum.


myenteric nerve plexus of colon

Myenteric nerve plexus that is located in the colon.


myenteric nerve plexus of small intestine

Myenteric nerve plexus that is part of the small intestine.


Gallbladder Adenoma, Intestinal-Type

An adenoma that arises from the gallbladder and is associated with intestinal-type differentiation.


neoplastic polyp

A term that includes all polypoid growth from the inner lining of the mucous membrane.


Cervical Microglandular Polyp

A benign endocervical polypoid epithelial hyperplasia characterized by the presence of tightly packed glandular structures. It is usually seen in women on oral contraceptive therapy and during pregnancy.


tubular adenoma of stomach

An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a tubular architectural pattern.


Precancerous Polyp

A polyp with severe dysplastic features.


villous adenoma of stomach

An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a villous architectural pattern.


adenomatous polyp of stomach

A neoplastic polyp that arises from the stomach. It is associated with intestinal-type differentiation. The presence of high grade dysplasia and a size of more than 2 cm are factors that increase the risk of malignant transformation.


Ampulla of Vater Tubular Adenoma

An intestinal-type adenoma arising from the ampulla of Vater.  It is characterized by the presence of tubular epithelial structures and it is associated with dysplasia.


polyp of middle ear

A benign polypoid growth in the middle ear.


Ampulla of Vater Villous Adenoma

An intestinal-type adenoma arising from the ampulla of Vater.  It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.


Adenomatous Polyps

A polypoid neoplasm arising from the glandular epithelium of the gastrointestinal tract. There is proliferation of glandular cells which may display dysplastic cytologic features. Representative examples include the adenomatous polyps of the colon and rectum..


Endocervical polyp

A polyp that arises from the endocervix. It is characterized by the presence of endocervical glands and a fibrovascular stroma.


Fallopian Tube Endometrioid Polyp

An adenomatous polyp that arises from the interstitial portion of the fallopian tube and is characterized by the presence of endometrial epithelium.  It may obstruct the lumen of the fallopian tube and result in infertility or tubal pregnancy.


Colorectal Adenomatous Polyp

A polypoid adenoma that arises from and protrudes into the lumen of the colon or rectum.  Epithelial dysplasia is always present.  According to the architectural pattern it is classified as tubular, tubulovillous, or villous.


Adenoma of ampulla of Vater

An adenoma that arises from the ampulla of Vater and resembles the adenomas of the small and large intestines.  Morphologically, according to the growth pattern, it may be classified as tubular, tubulovillous, or villous.  Dysplasia is always present.  Jaundice may be an early symptom.


Adenomatous polyp of rectum

A polypoid adenoma that arises from and protrudes into the lumen of the rectum.  Epithelial dysplasia is always present.  According to the architectural pattern it is classified as tubular, tubulovillous, or villous.


polyposis

A condition characterized by the presence of numerous polyps.


Intestinal-type adenoma

An adenoma that arises from the glandular epithelium of the gastrointestinal tract and is associated with intestinal-type differentiation.


tubulovillous adenoma of stomach

An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a tubulovillous architectural pattern.


polyp of external auditory canal

A polyp that involves the external acoustic meatus.


Eosinophilic granulomatous polyp

A benign, often polypoid, hypocellular fibroblastic neoplasm with a predilection for the stomach and ileum, containing a prominent inflammatory infiltrate, especially eosinophils. (WHO 2019)


tubulopapillary adenoma of gallbladder

A grossly visible non-invasive neoplasm of the gallbladder composed of uniform back-to-back mucinous glands arranged in a tubular configuration. (WHO 2019)


myxoid/round cell liposarcoma

Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.


ovarian myxoid liposarcoma

A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.


round cell liposarcoma

A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.


metanephric mesenchymal cell migration

The orderly movement of undifferentiated metanephric mesenchymal cells (precursors to metanephric mesangial cells) from the mesenchyme into the cleft of the developing glomerulus, during development of the metanephros.


bidirectional double-stranded viral DNA replication

A viral DNA replication process where replication occurs in both directions from the starting point. This creates two replication forks, moving in opposite directions.


1,2-alpha-L-fucosidase activity

Catalysis of the reaction: H2O + methyl-2-alpha-L-fucopyranosyl-beta-D-galactoside = L-fucose + methyl beta-D-galactoside.


Vaginal Cancer by AJCC v8 Stage

A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas of the vagina. There is no AJCC staging system for mucosal melanoma of the vagina. (from AJCC 8th Ed.)


Stage III Vaginal Cancer AJCC v8

Stage III includes: (T1-T3, N1, M0); (T3, N0, M0). T1: Tumor confined to the vagina. T2: Tumor invading paravaginal tissues but not to pelvic sidewall. T3: Tumor extending to the pelvic sidewall and/or involving the lower third of the vagina and/or causing hydronephrosis or nonfunctioning kidney. N0: No regional lymph node metastasis. N1: Pelvic or inguinal lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IV Vaginal Cancer AJCC v8

Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Tumor invading the mucosa of the bladder or rectum and/or extending beyond the true pelvis (bullous edema is not sufficient evidence to classify a tumor as T4). M0: No distant metastasis. M1: Distant metastasis. (from AJCC 8th Ed.)


Stage II Vaginal Cancer AJCC v8

Stage II includes: IIA: T2a, N0, M0; IIB: T2b, N0, M0. T2a: Tumor invading paravaginal tissues but not to pelvic wall, measuring 2.0 cm or less. T2b: Tumor invading paravaginal tissues but not to pelvic wall, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIA Vaginal Cancer AJCC v8

Stage IIA includes: T2a, N0, M0. T2a: Tumor invading paravaginal tissues but not to pelvic wall, measuring 2.0 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIB Vaginal Cancer AJCC v8

Stage IIB includes: T2b, N0, M0. T2b: Tumor invading paravaginal tissues but not to pelvic wall, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IVB Vaginal Cancer AJCC v8

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


epicardium-derived cardiac fibroblast cell differentiation

The process in which an epicardial cell acquires the specialized structural and/or functional features of a cardiac fibroblast. A cardiac fibroblast is a connective tissue cell in the heart which secretes an extracellular matrix rich in collagen and other macromolecules.


retinal rod cell fate commitment

The process in which the developmental fate of a cell becomes restricted such that it will develop into a retinal rod cell. A retinal rod cell is one of the two photoreceptor subtypes in a camera-type eye.


R3/R4 cell fate commitment

The process in which the R3/R4 photoreceptors commit to their cell fate. R3 and R4 are paired photoreceptors which contribute the outer rhabdomeres.


R8 cell fate commitment

The process in which the R8 photoreceptor commits to its cell fate. The R8 receptor contributes the central part of the rhabdomere in the basal parts of the ommatidium.


R7 cell fate commitment

The process in which the R7 photoreceptor commits to its cell fate. The R7 receptor contributes the central part of the rhabdomere in the apical parts of the ommatidium.


compound eye photoreceptor fate commitment

The process in which the developmental fate of a cell becomes restricted such that it will develop into a compound eye photoreceptor cell. A photoreceptor cell is a cell that responds to incident electromagnetic radiation. Different classes of photoreceptor have different spectral sensitivities and express different photosensitive pigments.


R2/R5 cell fate commitment

The process in which the R2/R5 photoreceptors commit to their cell fate. R2 and R5 are paired photoreceptors which contribute the outer rhabdomeres.


R1/R6 cell fate commitment

The process in which the R1/R6 photoreceptors commit to their cell fate. R1 and R6 are paired photoreceptors which contribute the outer rhabdomeres.


retinal cone cell fate commitment

The process in which the developmental fate of a cell becomes restricted such that it will develop into a retinal cone cell. A retinal cone cell is one of the two photoreceptor subtypes in a camera-type eye.


ocellus photoreceptor cell fate commitment

The process in which the developmental fate of a cell becomes restricted such that it will develop into photoreceptor cell in the ocellus. A photoreceptor cell is a cell that responds to incident electromagnetic radiation. Different classes of photoreceptor have different spectral sensitivities and express different photosensitive pigments.


internal thoracic artery

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

An artery that supplies the anterior chest wall and the breasts. It is a paired artery, with one running along each side of the sternum, to continue after its bifurcation as the superior epigastric and musculophrenic arteries. [WP,unvetted].


peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity

Any peptidyl-tyrosine dephosphorylation that is involved in inactivation of protein kinase activity.


The removal of phosphate residues from peptidyl-N-phospho-arginine to form peptidyl-arginine.


peptidyl-histidine dephosphorylation

The removal of phosphoric residues from peptidyl-O-phospho-L-histidine to form peptidyl-histidine.


peptidyl-tyrosine dephosphorylation involved in activation of protein kinase activity

Any peptidyl-tyrosine dephosphorylation that is involved in activation of protein kinase activity.


Pyridoxamine phosphate

A vitamin B6 phosphate that is the  phosphoric ester derivative of pyridoxamine.


Pyridoxamine

A monohydroxypyridine that is pyridine substituted by a hydroxy group at position 3, an aminomethyl group at position 4, a hydroxymethyl group at position 5 and a methyl group at position 2. The 4-aminomethyl form of vitamin B6, it is used (in the form of the hydrochloride salt) for treatment of diabetic nephropathy.


desmosome maintenance

The maintenance of a desmosome. A desmosome is a patch-like intercellular junctions found in vertebrate tissues, consisting of parallel zones of two cell membranes, separated by an interspace of 25-35 nm, and having dense fibrillar plaques in the subjacent cytoplasm.


desmosome disassembly

The controlled breakdown of a desmosome. A desmosome is a patch-like intercellular junction found in vertebrate tissues, consisting of parallel zones of two cell membranes, separated by an space of 25-35 nm, and having dense fibrillar plaques in the subjacent cytoplasm.


Decreased Corpora Lutea

A decrease in the number of corpora lutea within the ovary.


Prostate Stromal Proliferation of Uncertain Malignant Potential

A neoplastic lesion that arises from the prostate gland stroma.  Morphologic characteristics include hypercellular stroma with scattered atypical cells, prominent overgrowth of the prostatic stroma, or changes resembling benign phyllodes tumor.  The majority of cases do not have an aggressive clinical course.  A minority of cases however, may progress to stromal sarcoma.


tibial muscular dystrophy

A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.


Meyerson Nevus

A benign melanocytic nevus surrounded by eczematous changes.


cellular response to mycotoxin

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mycotoxin stimulus. A mycotoxin is a toxic chemical substance produced by fungi.


extrathymic T cell selection

The process of T cell selection that occurs in extrathymic locations, often resulting T cells of distinct specificities from those selected in the thymus.


positive extrathymic T cell selection

The process of sparing extrathymically maturing T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death.


negative extrathymic T cell selection

The process of elimination of extrathymically maturing T cells which react strongly with self-antigens.


male urethral gland

Any of the numerous small mucous-secreting glands located in the wall of the penile urethra.


Metastatic malignant neoplasm to supraclavicular lymph nodes

The spread of a malignant neoplasm from its original site of growth to supraclavicular lymph nodes.


metastatic malignant neoplasm in the lymph nodes

The spread of a malignant neoplasm to the lymph nodes.


Metastatic Malignant Neoplasm in the Regional Lymph Nodes

The spread of a malignant neoplasm from its original site of growth to nearby lymph nodes.


Breast Carcinoma Metastatic in the Lymph Nodes

A carcinoma that arises from the breast and has spread to the lymph nodes.


Metastatic malignant neoplasm to mediastinal lymph nodes

The spread of a malignant neoplasm to the mediastinal lymph nodes from an adjacent or distant anatomic site.


Prostate Carcinoma Metastatic in the Lymph Nodes

A carcinoma that arises from the prostate gland and has spread to the lymph nodes.


Metastatic Squamous Cell Carcinoma in the Cervical Lymph Nodes

A squamous cell carcinoma that has spread from its original site of growth to the cervical lymph nodes.


Dextro-Transposition of the Great Vessels with Intact Ventricular Septum

A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with the notable absence of any pathologic opening between the cardiac ventricles.


positive regulation of muscle hyperplasia

Any process that activates or increases the frequency, rate or extent of muscle hyperplasia.


leukotriene D4 biosynthetic process

The chemical reactions and pathways resulting in the formation of leukotriene D4.


Central Nervous System Teratoma with Malignant Transformation

A central nervous system teratoma characterized by the presence of a malignant component. The malignant component most often is sarcomatous (rhabdomyosarcoma or undifferentiated sarcoma) or carcinomatous (squamous cell carcinoma or adenocarcinoma).


Sellar Teratoma with Malignant Transformation

A teratoma with malignant transformation that arises from or adjacent to the sellar region.


HIV wasting syndrome

Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).


Stage IA1 Cervical Cancer

Stage IA1 includes: T1a1, N0, M0.  T1a1: Measured stromal invasion 3.0 mm or less in depth and 7.0 mm or less in horizontal spread.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IA Cervical Cancer AJCC v6 and v7

Stage IA includes: IA (T1a, N0, M0); IA1 (T1a1, N0, M0); IA2 (T1a2, N0, M0).  T1a: Invasive carcinoma diagnosed only by microscopy. Stromal invasion with a maximum depth of 5.0 mm measured from the base of the epithelium and a horizontal spread of 7.0 mm or less. Vascular space involvement, venous or lymphatic, does not affect classification. T1a1: Measured stromal invasion 3.0 mm or less in depth and 7.0 or less horizontal spread.  T1a2: Measured stromal invasion more than 3.0 mm and not more than 5.0 mm with a horizontal spread 7.0 mm or less.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IA2 Cervical Cancer

Stage IA2 includes: T1a2, N0, M0.  T1a2: Measured stromal invasion more than 3.0 mm and not more than 5.0 mm with a horizontal spread 7.0 mm or less.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Machado-Joseph disease type 2

Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.


Machado-Joseph disease

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.


Machado-Joseph disease type 4

A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment.


Machado-Joseph disease type 3

Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.


Machado-Joseph disease type 5

A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia.


Machado-Joseph disease type 1

Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.


proximal superior pancreatic lymph node

Superior pancreatic lymph node located along the proximal segment of splenic artery.


Steroid Resistant Gastrointestinal Tract Acute Graft Versus Host Disease

Acute graft versus host disease occurring in the gastrointestinal tract that is resistant to treatment with steroids.


CGG codon-amino acid adaptor activity

A triplet codon-amino acid adaptor activity that recognizes a CGG codon.


parotid disorder

A disease involving the parotid gland.


parotid gland neoplasm

A neoplasm (disease) that involves the parotid gland.


benign neoplasm of parotid gland

A benign neoplasm that involves the parotid gland.


inosine salvage

Any process that generates inosine, hypoxanthine riboside, from derivatives of it without de novo synthesis.


Shock From Lead

Unintended electric shock from patient leads.


positive regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis

Any process that increases the occurrence or rate of mesenchymal stem cell death by apoptotic process that contributes to the shaping of the nephron in the mesonephros.


positive regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis

Any process that increases the occurrence or rate of mesenchymal stem cell death by apoptotic process that contributes to the shaping of the nephron.


positive regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis

Any process that increases the occurrence or rate of mesenchymal stem cell death by apoptotic process that contributes to the shaping of the nephron in the metanephros.


regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis

Any process that modulates the occurrence or rate of mesenchymal stem cell death by apoptotic process that contributes to the shaping of the nephron in the mesonephros.


positive regulation of somatic stem cell population maintenance

Any process that activates or increases the frequency, rate or extent of somatic stem cell population maintenance.


negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis

Any process that reduces the occurrence or rate of mesenchymal stem cell death by apoptotic process that contributes to the shaping of the nephron in the mesonephros.


positive regulation of single-species biofilm formation on inanimate substrate

Any process that activates or increases the frequency, rate or extent of single-species biofilm formation on inanimate substrate.


disseminated nephrocyte differentiation

The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a disseminated nephrocyte. A disseminated nephrocyte is an insect renal cell that filters hemolymph and is found at scattered locations in the fat body or other tissues. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.


nephrocyte differentiation

The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a nephrocyte. A nephrocyte is an insect renal cell that filters hemolymph. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.


garland nephrocyte differentiation

The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a garland nephrocyte. A garland nephrocyte is an insect renal cell that filters hemolymph and forms a ring with other garland nephrocytes around the esophagus. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.


ectopic Cushing syndrome

Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.


ACTH-independent adrenal Cushing syndrome, somatic


ACTH-independent macronodular adrenal hyperplasia 1


Cushing syndrome due to macronodular adrenal hyperplasia

A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.


ACTH-independent macronodular adrenal hyperplasia 2

Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.


ACTH-dependent Cushing syndrome

Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).


ACTH-independent Cushing syndrome

Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).


intracellular sodium activated potassium channel activity

Enables the transmembrane transfer of potassium by a channel that opens in response to stimulus by a sodium ion or ions. Transport by a channel involves facilitated diffusion of a solute (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel, without evidence for a carrier-mediated mechanism. Sodium activated potassium channels have distinctive properties, including a large single channel conductance, subconductance states, and a block of single channel currents at positive potentials, similar to inward rectification.


mechanosensitived potassium channel activity

Enables the transmembrane transfer of a potassium ion by a channel that opens in response to a mechanical stress.


chloride-activated potassium channel activity

Enables the chloride concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient.


G-protein gated potassium channel activity

A potassium channel activity that is gated by binding of a G-protein beta-gamma dimer.


mitochondrial ATP-gated potassium channel activity

Enables the ATP-dependent diffusion of a potassium ion across the mitochondrial inner membrane.


voltage-gated potassium channel activity involved in SA node cell action potential repolarization

Enables the transmembrane transfer of a potassium ion by a voltage-gated channel through the plasma membrane of an SA node cell contributing to the repolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.


voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization

Enables the transmembrane transfer of a potassium ion by a voltage-gated channel through the plasma membrane of a bundle of His cell contributing to the repolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.


voltage-gated potassium channel activity involved in SA node cell action potential depolarization

Enables the transmembrane transfer of a potassium ion by a voltage-gated channel through the plasma membrane of an SA node cardiac muscle cell contributing to the depolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.


Intermediate conductance calcium-activated potassium channel activity

Enables the transmembrane transfer of potassium by a channel with a unit conductance of 20 to 85 picoSiemens that opens in response to stimulus by internal calcium ions. Intermediate conductance calcium-activated potassium channels are more sensitive to calcium than are large conductance calcium-activated potassium channels. Transport by a channel involves catalysis of facilitated diffusion of a solute (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel, without evidence for a carrier-mediated mechanism.


open rectifier potassium channel activity

Enables the transmembrane transfer of a potassium ion by an open rectifier voltage-gated channel. An open rectifier current-voltage relationship is one in which the direction of rectification depends on the external potassium ion concentration.


voltage-gated potassium channel activity involved in Purkinje myocyte action potential repolarization

Enables the transmembrane transfer of a potassium ion by a voltage-gated channel through the plasma membrane of a Purkinje myocyte contributing to the repolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.


G-protein gated potassium channel activity involved in regulation of postsynaptic membrane potential

Any G-protein gated potassium channel activity that is involved regulation of postsynaptic membrane potential.


voltage-gated potassium channel activity involved in AV node cell action potential repolarization

Catalysis of the transmembrane transfer of a potassium ion by a voltage-gated channel through the plasma membrane of an AV node cardiac muscle cell contributing to the repolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.


aldehyde dehydrogenase (quinone) activity

Catalysis of the reaction: an aldehyde + a quinone + H2O = a carboxylate + a quinol.


extrahepatic bile duct

Passages external to the liver for the conveyance of bile. These include the common bile duct and the common hepatic duct.


Hilar Portion of the Left Hepatic Duct

The segment of the left hepatic duct located in the hilum of the liver.


Distal Common Bile Duct

The section of the tube-like structure carrying bile that is closest to the intestine and furthest from the hepatic and cystic ducts.


cystic duct

The tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct.


hilar portion of hepatic duct

The segment of either hepatic duct located in the hilum of the liver.


Hilar Portion of the Right Hepatic Duct

The segment of the right hepatic duct located in the hilum of the liver.


Distal 1/3 of the Common Bile Duct

One third of the tube-like structure carrying bile that is closest to the intestine and furthest from the hepatic and cystic ducts.


microphthalmia, isolated, with coloboma 4


Catalysis of the reaction: anthocyanidin + UDP-D-glucose = anthocyanidin-3-O-D-glucoside + UDP.


Hemoglobin SE disease

A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin E mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with hemoglobin SS disease.


Stage IV Colorectal Neuroendocrine Tumor AJCC v8

Stage IV includes: (T1, Any N, M1); (T2, Any N, M1); (T3, Any N, M1); (T4, Any N, M1). T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. T2: Tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. M1: Distant metastasis. (AJCC 8th ed.)


Stage IV Colon Neuroendocrine Tumor AJCC v8


Stage IV Rectal Neuroendocrine Tumor AJCC v8


detection of endogenous biotic stimulus

The series of events in which an endogenous biotic stimulus is received by a cell and converted into a molecular signal.


Pyogenic granuloma of oral mucosa

A lobular hemangioma arising from the oral mucosa.


Airway Infantile Hemangioma

A rare infantile hemangioma in the airway, usually in the subglottic area or trachea. It may or may not be associated with cutaneous lesions. It is a potentially life-threatening condition and the infant should be closely monitored for signs of airway disease.


Senile hemangioma of lip

A capillary hemangioma arising from the lip and presenting as a papular lesion.


Pyogenic granuloma of skin and subcutaneous tissue

A lobular hemangioma arising from the skin and attached subcutaneous tissues.


Anastomosing Hemangioma

An unusual variant of capillary hemangioma. It is characterized by a unique anastomosing sinusoidal-like architecture which may mimic angiosarcoma. It was originally described in the kidney but rare cases have been reported in other sites.


Infantile hemangioma of liver

A capillary hemangioma that arises from the liver. It occurs in infants and children.


Infantile hemangioma

A capillary hemangioma that may regress spontaneously.  It occurs in infants and children.


Multiple Lobular Capillary Hemangiomas

A lobular hemangioma present in multiple anatomic sites.


Capillary hemangioma of orbit

A capillary hemangioma arising from the orbit.


Cardiac Capillary Hemangioma

A capillary hemangioma arising from the heart.


metastatic malignant neoplasm in the colon

The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.


neoplastic meningitis

Metastatic neoplasm in which the tumor cells spread to leptomeninges (pia and arachnoid) and subarachnoid space. The most common primary tumors metastasizing to the leptomeninges are breast and lung carcinomas, melanoma, aggressive non-Hodgkin lymphoma, and acute lymphocytic leukemia.


metastatic malignant neoplasm in the eye

A malignant neoplasm that has spread to the eye from another anatomic site.


metastatic malignant neoplasm

A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site.


secondary malignant neoplasm

A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.


Foreign body in penis

Extraneous material located within the penis.


Postoperative shock

A state of shock following a surgical operation.


Stage II Appendix Neuroendocrine Tumor AJCC v7

Stage II includes: T2, T3, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm or with extension to the cecum. T3: Tumor more than 4 cm or with extension to the ileum.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Adult Ependymoma

An ependymoma occurring in adults.


Advanced Genitourinary System Carcinoma

A genitourinary system carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Bladder Urothelial Carcinoma

Bladder urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Urethral Urothelial Carcinoma

Urethral urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Vaginal Adenosquamous Carcinoma

Vaginal adenosquamous carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Endometrial Carcinoma

An endometrial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Fallopian Tube Carcinoma

Fallopian tube carcinoma that has spread extensively from its original site of growth to other anatomic sites or is no longer responding to treatment.


Advanced Ureter Urothelial Carcinoma

Ureter urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Cervical Squamous Cell Carcinoma

Cervical squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Penile Carcinoma

Penile carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Vaginal Squamous Cell Carcinoma

Vaginal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Cervical Carcinoma

A cervical carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Bladder Carcinoma

A bladder carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Ovarian Carcinoma

An ovarian carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Urothelial Carcinoma

Urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Renal Pelvis and Ureter Urothelial Carcinoma

Renal pelvis and ureter urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Microsatellite Stable Ovarian Carcinoma

Microsatellite stable ovarian carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Microsatellite Stable Endometrial Carcinoma

Microsatellite stable endometrial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Vaginal Carcinoma

Vaginal carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Vulvar Carcinoma

Vulvar carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Prostate Carcinoma

A prostatic carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Vaginal Squamous Cell Carcinoma, Not Otherwise Specified

Vaginal squamous cell carcinoma, not otherwise specified that that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Cervical Adenosquamous Carcinoma

Cervical adenosquamous carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


hereditary continuous muscle fiber activity

Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.


posterior lateral line system development

The process whose specific outcome is the progression of the posterior lateral line system over time, from its formation to the mature structure. The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance.


basal ganglia calcification, idiopathic, 1

An autosomal dominant condition caused by mutation(s) in the SLC20A2 gene, encoding sodium-dependent phosphate transporter 2. It is characterized by calcification of the basal ganglia.


tert-butanol 2-monooxygenase activity

Catalysis of the reaction: tert-butanol + 1/2 O2 = 2-methyl-2-hydroxy-1-propanol.


Recurrent Grade II Lymphomatoid Granulomatosis

The reemergence of grade II lymphomatoid granulomatosis after a period of remission.


Recurrent Grade I Lymphomatoid Granulomatosis

The reemergence of grade I lymphomatoid granulomatosis after a period of remission.


Recurrent Childhood Lymphomatoid Granulomatosis

The reemergence of lymphomatoid granulomatosis in childhood after a period of remission.


retinitis pigmentosa 2

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.


RP2-related retinopathy

A retinopathy caused by variants in the X-linked gene, RP2.


Extraocular Cutaneous Sebaceous Carcinoma

A rare variant of sebaceous carcinoma that does not affect the ocular region.


Conjunctival Sebaceous Carcinoma

A rare sebaceous carcinoma that arises from the conjunctiva.


sebaceous carcinoma of salivary gland

A rare sebaceous carcinoma that arises from the salivary glands.


Head and Neck Sebaceous Carcinoma

A sebaceous carcinoma that arises from the head and neck region.


distal early tubule

Portion of the renal tubule which is just posterior to the proximal straight tubule.


Tropical Disease

Infectious and parasitic diseases endemic in tropical and subtropical zones, including Chagas' disease, leishmaniasis, leprosy, malaria, onchocerciasis, schistosomiasis, sleeping sickness, yellow fever, and others; often water- or insect-borne.


infection by Trypanosoma gambiense

Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.


early yaws

Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly.


infection by Trypanosoma rhodesiense

An infection with Trypanosoma brucei rhodesiense.


late yaws

Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints.


yaws

An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease.


peripheral lymph node

The lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes.


pectoral axillary lymph node

An axiallary lymph node along the lower border of the Pectoralis minor, in relation with the lateral thoracic artery. Their afferents drain the skin and muscles of the anterior and lateral thoracic walls, and the central and lateral parts of the mamma; their efferents pass partly to the central and partly to the subclavicular groups of axillary glands.


apical axillary lymph node

An axillary lymph node that is situated partly posterior to the upper portion of the Pectoralis minor and partly above the upper border of this muscle.


submandibular lymph node

The submandibular lymph nodes (submaxillary glands in older texts), three to six in number, are placed beneath the body of the mandible in the submaxillary triangle, and rest on the superficial surface of the submaxillary salivary gland. One gland, the middle gland of Stahr, which lies on the external maxillary artery as it turns over the mandible, is the most constant of the series; small lymph glands are sometimes found on the deep surface of the submaxillary salivary glands. The afferents of the submaxillary glands drain the medial palpebral commissure, the cheek, the side of the nose, the upper lip, the lateral part of the lower lip, the gums, and the anterior part of the margin of the tongue. Efferent vessels from the facial and submental glands also enter the submaxillary glands. Their efferent vessels pass to the superior deep cervical glands. [WP,unvetted].


The superficial anterior cervical lymph nodes are found in proximity to the anterior jugular vein.


superficial inguinal lymph node

A group of 12-20 lymph nodes that lie in the subcutaneous tissue below the inguinal ligament and along the terminal part of the great saphenous vein; they drain the skin and subcutaneous tissue of the lower abdominal wall, perineum, buttocks, external genitalia, and lower limbs.


superficial cervical lymph node

A group of nodes lying along the external jugular vein; they drain the skin and superficial structures over the region of the sternocleidomastoid muscle and anterior cervical regions. Efferent vessels drain to the deep cervical lymph nodes. Lymph nodes can be further subdivided into anterior and lateral groupings.


proximal deep inguinal lymph node

One of the deep inguinal lymph nodes located in or adjacent to the femoral canal; sometimes mistaken for a femoral hernia when enlarged.


superficial lateral cervical lymph node

The superficial lateral cervical lymph nodes are found in proximity to the external jugular vein.


popliteal lymph node

The lymph nodes which drain the legs; contained in the popliteal fossa.


subscapular axillary lymph node

An axillary lymph node that is placed along the lower margin of the posterior wall of the axilla in the course of the subscapular artery.


axillary lymph node

The lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region.


deep inguinal lymph node

One of several small inconstant lymph nodes, proximal, intermediate and distal deep to the fascia lata and medial to the femoral vein; they receive lymph from the deep structures of the lower limb, from the glans penis and from superficial inguinal nodes; efferents pass to the external iliac nodes.


central axillary lymph node

An axillary lymph node that is imbedded in the adipose tissue near the base of the axilla.


inguinal lymph node

The lymph nodes located in the groin area.


olivetolic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of olivetolic acid.


The chemical reactions and pathways resulting in the formation of 3,4-dihydroxybenzoate.


pyruvate biosynthetic process from acetate

The chemical reactions and pathways resulting in the formation of pyruvate from other compounds, including acetate.


The chemical reactions and pathways resulting in the formation of 3-(3-hydroxyphenyl)propanoate.


pantothenate biosynthetic process

The chemical reactions and pathways resulting in the formation of pantothenate, the anion of pantothenic acid. It is a B complex vitamin that is a constituent of coenzyme A and is distributed ubiquitously in foods.


coenzyme B biosynthetic process

The chemical reactions and pathways resulting in the formation of coenzyme B (7-mercaptoheptanoylthreonine phosphate), a coenzyme involved in the utilization of methane by methanogenic prokaryotes.


D-gluconate biosynthetic process

The chemical reactions and pathways resulting in the formation of D-gluconate, the anion of D-gluconic acid, the aldonic acid derived from glucose.


para-aminobenzoic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of para-aminobenzoic acid, an intermediate in the synthesis of folic acid, a compound which some organisms, e.g. prokaryotes, eukaryotic microbes, and plants, can synthesize de novo. Others, notably mammals, cannot. In yeast, it is present as a factor in the B complex of vitamins.


ketogluconate biosynthetic process

The chemical reactions and pathways resulting in the formation of ketogluconate, the anion of ketogluconic acid, an aldonic acid derived from glucose containing a ketonic carbonyl group.


leukotriene B4 biosynthetic process

The chemical reactions and pathways resulting in the formation of leukotriene B4, a leukotriene composed of (6Z,8E,10E,14Z)-eicosatetraenoic acid having (5S)- and (12R)-hydroxy substituents.


galacturonate biosynthetic process

The chemical reactions and pathways resulting in the formation of galacturonate, the anion of galacturonic acid.


The chemical reactions and pathways resulting in the formation of 3-(2,3-dihydroxyphenyl)propanoate.


nicotinate biosynthetic process

The chemical reactions and pathways resulting in the formation of nicotinate.


(R)-mandelate catabolic process to benzoate

The chemical reactions and pathways resulting in the breakdown of (R)-mandelate into other compounds, including benzoate.


pentalenolactone biosynthetic process

The chemical reactions and pathways resulting in the formation of pentalenolactone.


(R)-2-hydroxy-alpha-linolenic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of (R)-2-hydroxy-alpha-linolenic acid.


keto-D-gluconate biosynthetic process

The chemical reactions and pathways resulting in the formation of keto-D-gluconate, the anion of keto-D-gluconic acid, an aldonic acid derived from glucose.


fumagillin biosynthetic process

The chemical reactions and pathways resulting in the formation of fumagillin.


benzylpenicillin biosynthetic process

The chemical reactions and pathways resulting in the formation of benzylpenicillin.


indoleacetic acid biosynthetic process via tryptophan

The chemical reactions and pathways resulting in the formation of indole-3-acetic acid that occurs through metabolism of L-tryptophan.


D(-)-lactate biosynthetic process from pyruvate

The chemical reactions and pathways resulting in the formation of D(-)-lactate from other compounds, including pyruvate.


picolinic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of picolinic acid.


sinapate biosynthetic process

The chemical reactions and pathways resulting in the formation of sinapate, (2E)-3-(4-hydroxy-3,5-dimethoxyphenyl)prop-2-enoate.


mycophenolic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of mycophenolic acid (MPA). MPA is the first isolated antibiotic natural product in the world obtained from a culture of Penicillium brevicompactum in 1893.


regulation of fever generation by prostaglandin biosynthetic process

Any prostaglandin biosynthetic process process that regulates fever generation.


The chemical reactions and pathways resulting in the formation of 4-hydroxyphenylacetate.


L-idonate biosynthetic process

The chemical reactions and pathways resulting in the formation of L-idonate, the anion of idonic acid, an aldonic acid derived from L-idose, an aldohexose which is epimeric with D-glucose.


indoleacetic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of indole-3-acetic acid, a compound which functions as a growth regulator in plants.


cinnamic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of cinnamic acid, 3-phenyl-2-propenoic acid.


phaseic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of phaseic acid (PA), a catabolite of the plant hormone abscisic acid (ABA).


jasmonic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of jasmonic acid, a fatty acid derivative.


penicillin biosynthetic process

The chemical reactions and pathways resulting in the formation of any antibiotic that contains the condensed beta-lactamthiazolidine ring system.


(R)-mevalonic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of (R)-mevalonic acid.


lipoxin B4 biosynthetic process

The chemical reactions and pathways resulting in the formation of lipoxin B4. Lipoxin B4 is a C20 hydroxy fatty acid having (5S)-, (14R)- and (15S)-hydroxy groups as well as (6E)- (8Z)-, (10E)- and (12E)-double bonds.


cyclic 2,3-bisphospho-D-glycerate biosynthetic process

The chemical reactions and pathways resulting in the formation of cyclic 2,3-bisphospho-D-glyceric acid.


D-glucuronate biosynthetic process

The chemical reactions and pathways resulting in the formation of D-glucuronate, the D-enantiomer of glucuronate.


biotin biosynthetic process

The chemical reactions and pathways resulting in the formation of biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid.


salicylic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of salicylic acid (2-hydroxybenzoic acid), a derivative of benzoic acid.


mandelate biosynthetic process

The chemical reactions and pathways resulting in the formation of mandelate, the anion of mandelic acid. Mandelic acid (alpha-hydroxybenzeneacetic acid) is an 8-carbon alpha-hydroxy acid (AHA) that is used in organic chemistry and as a urinary antiseptic.


ferulate biosynthetic process

The chemical reactions and pathways resulting in the formation of ferulate, (2E)-3-(4-hydroxy-3-methoxyphenyl)prop-2-enoate.


D-lactate biosynthetic process from methylglyoxal via (R)-lactaldehyde

The chemical reactions and pathways resulting in the formation of D-lactate from methylglyoxal, via the intermediate (R)-lactaldehyde.


clavulanic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of clavulanic acid, (2R,3Z,5R)-3-(2-hydroxyethylidene)-7-oxo-4-oxa-1-azabicyclo[3.2.0]heptane-2-carboxylic acid.


leukotriene A4 biosynthetic process

The chemical reactions and pathways resulting in the formation of leukotriene A4.


glycolate biosynthetic process

The chemical reactions and pathways resulting in the formation of glycolate, the anion of hydroxyethanoic acid (glycolic acid).


butyryl-CoA catabolic process to butyrate

The chemical reactions a resulting in the resulting in the breakdown of butyryl-CoA to form butyrate.


protein deglycation, glyoxal removal

The removal of glyoxal from a glycated protein, to form glycolate and a deglycated protein.


tryptophan-independent indoleacetic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of indoleacetic acid, independent of tryptophan.


acetoacetic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of acetoacetic acid, a beta-keto acid of the keto acid group, empirical formula is C4H6O3 or CH3COCH2COOH.


glucuronate biosynthetic process

The chemical reactions and pathways resulting in the formation of glucuronate, the anion of glucuronic acid.


kynurenic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of kynurenic acid, 4-hydroxyquinoline-2-carboxylic acid.


abscisic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of abscisic acid, 5-(1-hydroxy-2,6,6,trimethyl-4-oxocyclohex-2-en-1-y1)-3-methylpenta-2,4-dienoic acid.


quinate biosynthetic process

The chemical reactions and pathways resulting in the formation of quinate, the anion of quinic acid.


formate biosynthetic process

The chemical reactions and pathways resulting in the formation of formate, also known as methanoate, the anion HCOO- derived from methanoic (formic) acid.


methionine catabolic process to 3-methylthiopropanoate

The chemical reactions and pathways involving the catabolism of amino acids to produce carboxylic acids with one carbon less than the starting amino acid. In S. cerevisiae, this is known to occur for leucine, isoleucine, valine, methionine, phenylalanine, tyrosine, or tryptophan. When methionine is used as the substrate, 3-methylthiopropanoate is produced. Often referred to as the Ehrlich pathway, these reactions generally occur during fermentation to produce a variety of carboxylic acids, sometimes collectively referred to as fusel acids. Depending on the redox state of the cells, alcohol derivatives may be produced instead of carboxylic acids.


acetate biosynthetic process from carbon monoxide

The chemical reactions and pathways resulting in the formation of acetate from other compounds, including carbon monoxide.


protein deglycation, methylglyoxal removal

The removal of methylglyoxal from a glycated protein, to form lactate and a deglycated protein.


2-dehydro-3-deoxy-D-gluconic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of 2-dehydro-3-deoxy-D-gluconic acid.


p-cumate biosynthetic process

The chemical reactions and pathways resulting in the formation of p-cumate.


L(+)-lactate biosynthetic process from pyruvate

The chemical reactions and pathways resulting in the formation of L(+)-lactate from other compounds, including pyruvate.


dethiobiotin biosynthetic process

The chemical reactions and pathways resulting in the formation of dethiobiotin, a derivative of biotin in which the sulfur atom has been replaced by two hydrogen atoms.


methylgallate biosynthetic process

The chemical reactions and pathways resulting in the formation of methylgallate, trihydroxymethylbenzoate, the anion of methylgallic acid.


mycolic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of mycolic acids, beta-hydroxy fatty acids with a long alpha-alkyl side chain.


positive regulation of fever generation by prostaglandin biosynthetic process

Any prostaglandin biosynthetic process process that positively_regulates fever generation.


aldonic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of aldonic acid, a monocarboxylic acid with a chain of three or more carbon atoms, derived from an aldose by oxidation of the aldehydic group.


2-oxobutyrate biosynthetic process

The chemical reactions and pathways resulting in the formation of 2-oxobutyrate, the anion of the organic acid 2-oxobutyric acid, which contains a ketone group on carbon 2.


butyrate biosynthetic process

The chemical reactions and pathways resulting in the formation of butyrate, the anion of butyric acid.


o-orsellinic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of o-orsellinic acid.


palmitic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of palmitic acid.


ochratoxin A biosynthetic process

The chemical reactions and pathways resulting in the formation of ochratoxin A.


glycyrrhetinate biosynthetic process

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


early stripe melanocyte differentiation

The process in which a relatively unspecialized cell acquires the specialized features of an early stripe melanocyte (ESM). In zebrafish, ESMs develop during the first phase (2-3 weeks of development) of the larva to adult transition (2-4 weeks of development).


late stripe melanocyte differentiation

The process in which a relatively unspecialized cell acquires the specialized features of a late stripe melanocyte (LSM). In zebrafish, LSMs develop during the second phase (3-4 weeks of development) of the larva-to-adult transition (2-4 weeks of development).


chronic lymphoproliferative disorder of NK-cells

An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged.


UDP-N-acetylgalactosamine transmembrane transporter activity

Enables the transfer of a N-acetylgalactosamine from one side of a membrane to the other. N-acetylgalactosamine is a substance composed of N-acetylgalactosamine, a common structural unit of oligosaccharides, in glycosidic linkage with uridine diphosphate.


autosomal recessive early-onset Parkinson disease 23

Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene.


Parkinson disease 17

Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene.


juvenile onset Parkinson disease 19A

Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene.


Parkinson disease 21

Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene.


Kufor-Rakeb syndrome

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.


autosomal recessive juvenile Parkinson disease 2

A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia.


early-onset Parkinson disease 20

Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene.


parkinsonian-pyramidal syndrome

A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.


late-onset Parkinson disease

A Parkinson disease that begins after around the age of 50.


autosomal dominant Parkinson disease 8

Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.


autosomal recessive early-onset Parkinson disease 7

Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene.


young-onset Parkinson disease

A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.


autosomal dominant Parkinson disease 4

A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.


Parkinson disease 22, autosomal dominant

Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.


autosomal recessive early-onset Parkinson disease 6

Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene.


autosomal recessive Parkinson disease 14

A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.


hymenolepiasis

A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability.


cavum principale

The largest part of the nasal cavity, containing the olfactory epithelium.


congenital aortic valve insufficiency

Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth.


Heart valve regurgitation

Dysfunction of one of the cardiac valves characterized by incomplete valve closure.


Congenital insufficiency of pulmonary valve

Dysfunction of the pulmonary valve characterized by incomplete valve closure that is present at birth.


pyrazolylalanine synthase activity

Catalysis of the reaction: L-serine + pyrazole = 3-(pyrazol-1-yl)-L-alanine + H2O.


negative regulation of sorocarp stalk cell differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of sorocarp stalk cell differentiation. An example of this process is found in Dictyostelium discoideum.


positive regulation of sorocarp stalk cell differentiation

Any process that activates or increases the frequency, rate or extent of sorocarp stalk cell differentiation. An example of this process is found in Dictyostelium discoideum.


anterior auricular lymph node

The preauricular deep parotid lymph nodes (anterior auricular glands or preauricular glands), from one to three in number, lie immediately in front of the tragus. Their afferents drain the lateral surface of the auricula and the skin of the adjacent part of the temporal region; their efferents pass to the superior deep cervical glands.


lateral sinus thrombosis

Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure.


intracranial sinus thrombosis

Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects.


cavernous sinus thrombosis

Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)


Arteriovenous fistula stenosis

Narrowing of the lumen of an arteriovenous fistula.


Triple-Class Refractory Plasma Cell Myeloma

Plasma cell myeloma that is resistant to three classes of therapeutic agents, including proteasome inhibitors, immunomodulatory agents, and monoclonal antibodies.


heme B transmembrane transporter activity

Enables the transfer of heme B from one side of a membrane to the other.


apocrine sweat gland disorder

A disease that involves the apocrine sweat gland.


chromhidrosis

A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.


familial acne inversa

An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome.


acne inversa, familial, 3

Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.


acne inversa, familial, 2

Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene.


apocrine adenoma

A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma.


apocrine sweat gland cancer

A malignant neoplasm involving the apocrine sweat gland.


acne inversa, familial, 1

Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.


apocrine sweat gland neoplasm

A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma.


negative regulation of cholangiocyte proliferation

Any process that stops, prevents or reduces the frequency, rate or extent of cholangiocyte proliferation.


regulation of cholangiocyte proliferation

Any process that modulates the frequency, rate or extent of cholangiocyte proliferation.


negative regulation of nucleoside transport

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a nucleoside into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


negative regulation of adenosine transport

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of adenosine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


negative regulation of purine nucleoside transport

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a purine nucleoside into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


negative regulation of inosine transport

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of inosine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


Dextrocardia Situs Solitus

A congenital heart defect in which the heart is located in the right side and the other organs are in their normal position.


negative regulation of octopamine signaling pathway involved in response to food

Any process that stops, prevents, or reduces the frequency, rate or extent of octopamine signaling pathway involved in response to food.


negative regulation of octopamine signaling pathway

Any process that stops, prevents, or reduces the frequency, rate or extent of octopamine signaling pathway.


Recurrent Childhood Pineoblastoma

The reemergence of pineoblastoma in childhood after a period of remission.


Trichomonas prostatitis

Infection of the prostate gland caused by Trichomonas vaginalis.


detection of light stimulus involved in magnetoreception

The series of events involved in magnetoception in which a light stimulus is received and converted into a molecular signal. Downstream processing of the light information in addition to other sensory data allows organisms to perceive the orientation of a magnetic field.


Blasts 9 Percent or Less of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 9 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Renal Tubular Acidosis Associated With Deafness

Renal tubular acidosis associated with sensorineural hearing loss, and which is typically associated with recessive mutations.


extracellular sequestering of iron ion

The process of binding or confining iron ions in an extracellular area such that they are separated from other components of a biological system.


Refractory Chronic Myelomonocytic Leukemia

Chronic myelomonocytic leukemia that is resistant to treatment.


tRNA-dihydrouridine47 synthase activity

Catalysis of the reaction: a 5,6-dihydrouracil47 in tRNA + NAD(P) = H+ + a uracil47 in tRNA + NAD(P)H.


myosin II light chain binding

Binding to a light chain of a myosin II complex.


Wilson-Turner syndrome

A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.


osteogenesis imperfecta type 12

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.


combined immunodeficiency due to DOCK8 deficiency

Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).


caffeoyl CoA:S-adenosyl-L-methionine O-methyltransferase activity

Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to the oxygen atom of a caffeoyl CoA molecule.


Acrodysostosis 1 with or without hormone resistance

An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.


acrodysostosis

Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.


acrodysostosis 2 with or without hormone resistance

Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.


positive regulation of branchiomeric skeletal muscle development

Any process that activates, maintains or increases the frequency, rate or extent of branchiomeric skeletal muscle development. Branchiomeric skeletal muscle development is the process whose specific outcome is the progression of the branchiomeric skeletal muscle over time, from its formation to the mature structure.


positive regulation of extraocular skeletal muscle development

Any process that activates, maintains or increases the frequency, rate or extent of extraocular skeletal muscle development. Extraocular skeletal muscle development is the process whose specific outcome is the progression of the extraocular skeletal muscle over time, from its formation to the mature structure. The extraocular muscle is derived from cranial mesoderm and controls eye movements. The muscle begins its development with the differentiation of the muscle cells and ends with the mature muscle.


positive regulation of somitomeric trunk muscle development

Any process that activates, maintains or increases the frequency, rate or extent of somitomeric trunk muscle development. The somitomeric trunk muscle is derived from somitomeric mesoderm. The muscle begins its development with the differentiation of the muscle cells and ends with the mature muscle.


cystic artery

An artery that supplies oxygenated blood to the cystic duct.


ethmoidal sinus neoplasm

A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


benign neoplasm of sphenoidal sinus

A non-metastasizing neoplasm that arises from the sphenoid sinus.


sphenoidal sinus neoplasm

A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


maxillary sinus neoplasm

A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


benign neoplasm of ethmoidal sinus

A benign neoplasm that involves the ethmoid sinus.


benign neoplasm of maxillary sinus

A benign neoplasm that involves the maxillary sinus.


paranasal sinus cancer

A primary or metastatic malignant neoplasm involving the paranasal sinuses.


ethmoid sinus ectopic meningioma

An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus.


frontal sinus neoplasm

A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


benign neoplasm of frontal sinus

A benign neoplasm that involves the frontal sinus.


paranasal sinus lymphoma

A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type.


Carcinoid tumor of the duodenum

A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the duodenum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


RNA polymerase II C-terminal domain phosphoserine binding

Binding to phosphorylated serine residues in the C-terminal domain of RNA polymerase II.


adult germ cell tumor

A germ cell tumor that occurs during adulthood.


adult teratoma

A teratoma that occurs in an adult.


adult cystic teratoma

A cystic teratoma that occurs in an adult.


D-ornithine metabolic process

The chemical reactions and pathways involving D-ornithine, the D-enantiomer of the amino acid ornithine, i.e. (2R)-2,5-diaminopentanoic acid.


amyotrophic lateral sclerosis type 11

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene.


RNA polymerase II CTD heptapeptide repeat peptidyl-prolyl isomerase activity

Catalysis of the reaction: RNA polymerase II large subunit CTD heptapeptide repeat (consensus YSPTSPS) cis-proline (omega=180) = RNA polymerase II large subunit trans-proline (omega=0).


RNA polymerase II CTD heptapeptide repeat P3 isomerase activity

Catalysis of the reaction: RNA polymerase II large subunit CTD heptapeptide repeat (consensus YSPTSPS) cis-proline (omega=180) (position 3) = RNA polymerase II large subunit trans-proline (omega=0) (position 3).


RNA polymerase II CTD heptapeptide repeat P6 isomerase activity

Catalysis of the reaction: RNA polymerase II large subunit CTD heptapeptide repeat (consensus YSPTSPS) cis-proline (omega=180) (position 6) = RNA polymerase II large subunit trans-proline (omega=0) (position 6).


NADH dehydrogenase complex (plastoquinone) assembly

The aggregation, arrangement and bonding together of a set of components to form NADH:plastoquinone dehydrogenase complex, which is involved in the non-photochemical reduction of plastoquinones, as well as the cyclic electron transport around photosystem I.


plus-end directed microtubule sliding

The movement of one microtubule along another microtubule, where the motion is directed towards the plus ends of the microtubules.


FAD-dependent H3K4me/H3K4me3 demethylase activity

Catalysis of the removal of a methyl group from a di- or a monomethyl-lysine residue at position 4 of the histone H3 protein. This is a flavin adenine dinucleotide (FAD)-dependent amine oxidation reaction.


histone H3K4me/H3K4me2/H3K4me3 demethylase activity

Catalysis of the removal of a methyl group from a tri, a di or a monomethyl-lysine residue at position 4 of the histone H3 protein. This is a dioxygenase reaction that is dependent on Fe(II) and 2-oxoglutarate.


positive regulation of NAD+ ADP-ribosyltransferase activity

Any process that activates or increases the frequency, rate or extent of NAD+ ADP-ribosyltransferase activity.


negative regulation of NAD+ ADP-ribosyltransferase activity

Any process that stops, prevents or reduces the frequency, rate or extent of NAD+ ADP-ribosyltransferase activity.


ribosylnicotinate kinase activity

Catalysis of the reaction: N-ribosylnicotinate + ATP = ADP + 2 H+ + nicotinate mononucleotide.


paraflagellar rod assembly

The aggregation, arrangement and bonding together of a set of components to form a paraflagellar rod, a large lattice-like axial structure found in some flagellated protists which extends alongside the axoneme.


sperm flagellum assembly

The assembly and organization of the sperm flagellum, the microtubule-based axoneme and associated structures that are part of a sperm flagellum (or cilium).


non-motile cilium assembly

The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium.


cytosolic ciliogenesis

The process in which an axoneme is exposed entirely or partially to the cytoplasm or by which the cytoplasmic portion is assembled or extended. Cytosolic ciliogenesis can occur following compartmentalized ciliogenesis, in which the cilium is formed within a compartment separated from the cytoplasm.


facioscapulohumeral muscular dystrophy 1

Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene.


cellular response to glyceraldehyde

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glyceraldehyde stimulus.


response to D-galactose

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a D-galactose stimulus.


response to mannose

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mannose stimulus.


response to glyceraldehyde

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glyceraldehyde stimulus.


cellular response to D-galactose

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a D-galactose stimulus.


cellular response to mannose

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mannose stimulus.


response to rhamnose

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a rhamnose stimulus.


cellular response to rhamnose stimulus

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a rhamnose stimulus.


Gollop-Wolfgang complex

Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.


Recurrent Salivary Duct Carcinoma

The reemergence of salivary duct carcinoma after a period of remission.


left renal pelvis

A renal pelvis that is part of a left ureter.


right renal pelvis

A renal pelvis that is part of a right ureter.


metanephric renal pelvis

A renal pelvis that is part of a metanephros.


Stage I Rectal Neuroendocrine Tumor AJCC v8

Stage I includes: T1, N0, M0. T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


CIC-DUX4 Sarcoma

An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and DUX4 gene on chromosome 4. The translocation results in CIC-DUX4, t(4;19)(q35;q13) fusions.


Senile dementia

Loss of intellectual abilities in an elderly person, interfering with this person's activities.


adrenomedullin binding

Binding to adrenomedullin (AM).


ubiquitin activating enzyme binding

Binding to a ubiquitin activating enzyme, any of the E1 proteins.


myosin III binding

Binding to a class III myosin; myosin III is monomeric and has an N terminal kinase domain.


prostaglandin D2 receptor binding

Binding to a prostaglandin D2 receptor.


type 2 neuromedin U receptor binding

Binding to a type 2 neuromedin U receptor.


leukotriene receptor binding

Binding to a leukotriene receptor.


cysteinyl leukotriene receptor binding

Binding to a cysteinyl leukotriene receptor.


actin lateral binding

Binding to an actin filament along its length.


B1 bradykinin receptor binding

Binding to a B1 bradykinin receptor.


intramolecular proline-rich ligand binding

Binding to a proline-rich region within the same polypeptide.


sumo-dependent protein binding

Binding to a protein upon sumoylation of the target protein.


alpha-1D adrenergic receptor binding

Binding to an alpha-1D adrenergic receptor.


receptor tyrosine kinase-like orphan receptor binding

Binding to a receptor tyrosine kinase-like orphan receptor (Ror).


adipokinetic hormone binding

Binding to an adipokinetic hormone. Adipokinetic hormones (AKHs) are peptide hormones that are involved in the mobilization of sugar and lipids from the insect fat body during energy-requiring activities such as flight and locomotion. They also contribute to hemolymph sugar homeostasis.


glutamate-cysteine ligase catalytic subunit binding

Binding to the catalytic subunit of glutamate-cysteine ligase.


type 4 proteinase activated receptor binding

Binding to a type 4 proteinase activated receptor.


HDEL sequence binding

Binding to a HDEL sequence, the C terminus tetrapeptide sequence His-Asp-Glu-Leu found in proteins that are to be retained in the endoplasmic reticulum.


type 6 serotonin receptor binding

Binding to a type 6 serotonin receptor.


type 2B serotonin receptor binding

Binding to a type 2B serotonin receptor.


interleukin-9 binding

Binding to interleukin-9.


type 2 metabotropic GABA receptor binding

Binding to a type 2 metabotropic GABA receptor.


protein phosphatase 5 binding

Binding to protein phosphatase 5.


type 1 cannabinoid receptor binding

Binding to a type 1 cannabinoid receptor.


GAF domain binding

Binding to a GAF protein domain.


enzyme binding

Binding to an enzyme, a protein with catalytic activity.


sevenless binding

Binding to a sevenless (sev) protein, a receptor tyrosine kinase.


type-I cohesin domain binding

Binding to a type-I cohesin domain of a protein. Type-I cohesin domain is the binding partner of type-I dockerin domain.


complement component C5a binding

Binding to a C5a product of the complement cascade.


type 2 somatostatin receptor binding

Binding to a type 2 somatostatin receptor.


substance P receptor binding

Binding to a substance P receptor.


type A cholecystokinin receptor binding

Binding to a type A cholecystokinin receptor.


amylin binding

Binding to amylin.


receptor-receptor interaction

The aggregation, arrangement and bonding together of two or more different receptor complexes that individually undergo combination with a hormone, neurotransmitter, drug or intracellular messenger to form a higher level receptor complex. The formation of the higher level complex initiates a change in cell function.