red light signaling pathway

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

The series of molecular signals initiated upon sensing of red light by a photoreceptor molecule. Red light is electromagnetic radiation of wavelength of 580-700nm. An example of this response is seen at the beginning of many plant species developmental stages. These include germination, and the point when cotyledon expansion is triggered. In certain species these processes take place in response to absorption of red light by the pigment molecule phytochrome, but the signal can be reversed by exposure to far red light. During the initial phase the phytochrome molecule is only present in the red light absorbing form, but on absorption of red light it changes to a far red light absorbing form, triggering progress through development. An immediate short period of exposure to far red light entirely returns the pigment to its initial state and prevents triggering of the developmental process. A thirty minute break between red and subsequent far red light exposure renders the red light effect irreversible, and development then occurs regardless of whether far red light exposure subsequently occurs.


response to low fluence red light stimulus

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

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 low fluence red light stimulus. Red light is electromagnetic radiation of wavelength of 580-700nm. Low fluence red light is defined in this case as short pulses of red light followed by darkness, providing a light level of 0.001-0.1 mmol/m2/sec.


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

Catalysis of the reaction: 2,6-dimethyl-5-methylene-3-oxo-heptanoyl-CoA + CoASH = 3-isopropylbut-3-enoyl-CoA + propanoyl-CoA.


ovarian lymphoma

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

A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.


CYP1B1-related glaucoma with or without anterior segment dysgenesis

Any primary congenital glaucoma in which the cause of the disease is a mutation in the CYP1B1 gene.


hydrophthalmos

Abnormal enlargement of the eye


Unresectable Digestive System Mixed Adenoneuroendocrine Carcinoma

Digestive system mixed adenoneuroendocrine carcinoma that is not amenable to surgical resection.


hydroxynitrilase activity

Catalysis of the reaction: a hydroxynitrile = cyanide + an aldehyde or ketone.


aliphatic (S)-hydroxynitrile lyase activity

Catalysis of the reaction: an aliphatic (S)-hydroxynitrile = an aliphatic aldehyde or ketone + cyanide.


aromatic (S)-hydroxynitrile lyase activity

Catalysis of the reaction: an aromatic (S)-hydroxynitrile = an aromatic aldehyde + cyanide.


hydroxymandelonitrile lyase activity

Catalysis of the reaction: 4-hydroxymandelonitrile = 4-hydroxybenzaldehyde + hydrocyanate.


aliphatic (R)-hydroxynitrile lyase activity

Catalysis of the reaction: an aliphatic (R)-hydroxynitrile = an aliphatic aldehyde or ketone + hydrogen cyanide.


positive regulation of preblastoderm mitotic cell cycle

Any process that activates or increases the rate or extent of progression through the preblastoderm mitotic cell cycle.


juvenile polymyositis

An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.


folate:monoatomic anion antiporter activity

Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Folate derivative (out) + anion (in) = folate derivative (in) + anion (out). The Reduced Folate Carrier (RCF(SLC19A1) acts by an antiport mechanism. RCF carries several folate derivatives: MTX, PMX, ratitrexed, pralatrexate, 5-methyl THF, and 5-formyl THF.


octamethylcyclotetrasiloxane catabolic process to dimethylsilanediol

The anaerobic chemical reactions and pathways resulting in the breakdown of octamethylcyclotetrasiloxane into dimethylsilanediol. The former is a tetramer of the latter.


anaerobic organosilicon metabolic process

The chemical reactions and pathways involving organosilicons, organic compounds that contain silicon, in the absence of oxygen.


protein localization to nuclear inner membrane

A process in which a protein is transported to, or maintained in, a location within the nuclear inner membrane.


protein-glutamic acid ligase activity, elongating

Catalytic reaction :(L-glutamyl)n-L-gamma-glutamyl-L-glutamyl-[protein] + ATP + L-glutamate = (L-glutamyl)n+1-L-gamma-glutamyl-L-glutamyl-[protein] + ADP + H(+) + phosphate.


protein-glutamic acid ligase activity, initiating

Catalytic reaction: ATP + L-glutamate + L-glutamyl-[protein] = ADP + H(+) + L-gamma-glutamyl-L-glutamyl-[protein] + phosphate.


ribosomal protein S6 glutamate-glutamate ligase activity

Catalysis of the reaction: L-glutamate + ATP + a [protein] C-terminal L-glutamate = ADP + hydrogenphosphate + H+ + a [protein] with C-terminal alpha-L-glutamate-alpha-L-glutamate.


ribosomal S6-glutamic acid ligase activity

Catalysis of the posttranslational transfer of one or more glutamic acid residues to the C-terminus of ribosomal protein S6.


Advanced Pancreatic Neuroendocrine Tumor

A pancreatic neuroendocrine tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.


Pancreatic neuroendocrine tumor metastatic

A neuroendocrine tumor that arises from the islet cells of the pancreas and has spread to another anatomic site.


Advanced Pancreatic Neuroendocrine Tumor G1

Pancreatic neuroendocrine tumor G1 that has spread extensively to other anatomic sites or is no longer responding to treatment.


Metastatic Pancreatic Neuroendocrine Tumor G3

Panreatic neuroendocrine tumor G3 that has spread from its original site of growth to another anatomic site.


Locally Advanced Pancreatic Neuroendocrine Tumor G3

Pancreatic neuroendocrine tumor G3 that has spread from its original site of growth to nearby tissues or lymph nodes.


Metastatic Pancreatic Neuroendocrine Tumor G1

Pancreatic neuroendocrine tumor G1 that has spread from its original site of growth to another anatomic site.


Locally Advanced Pancreatic Neuroendocrine Tumor

A pancreatic neuroendocrine tumor that has spread from its original site of growth to nearby tissues or lymph nodes.


ABC-type heme transporter activity

Catalysis of the reaction: ATP + H2O + heme(in) = ADP + phosphate + heme(out).


puerperal infection

An infection occurring in puerperium, the period of 6-8 weeks after giving birth.


postpartum psychosis

Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly.


serous cystadenofibroma

A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well.


uterine corpus apoplectic leiomyoma

A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives.


ovarian clear cell adenofibroma

An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma.


fibroma of prostate

A fibroma that involves the prostate gland.


uterine corpus cellular leiomyoma

A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.


oral fibroma

A non-metastasizing oral neoplasm arising from fibrous tissue characterized by the presence of spindle-shaped fibroblasts.


uterine corpus bizarre leiomyoma

A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei.


uterine corpus dissecting leiomyoma

A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present.


uterine corpus adenofibroma

A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core.


testicular fibroma

A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization.


ovarian clear cell cystadenofibroma

A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures.


cystadenofibroma

A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue.


adenofibroma

A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported.


clear cell adenofibroma

A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma.


ovarian endometrioid cystadenofibroma

A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma.


uterine corpus diffuse leiomyomatosis

An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus.


rete ovarii cystadenofibroma

An exceptionally rare cystadenofibroma that arises from the rete ovarii.


ovarian serous adenofibroma

A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma.


uterine corpus lipoleiomyoma

A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm.


serous adenofibroma

A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential.


papillary adenofibroma

A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma.


tendon sheath fibroma

A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.


fallopian tube serous adenofibroma

A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium.


uterine corpus myxoid leiomyoma

A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma.


uterine corpus epithelioid leiomyoma

A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.


clear cell cystadenofibroma

A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells.


calcified aponeurotic fibroma

A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells.


ovarian serous cystadenofibroma

A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.


fallopian tube cystadenofibroma

A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder.


spastic paraplegia, intellectual disability, nystagmus, and obesity


deactivation of mitotic spindle assembly checkpoint

A positive regulation of the mitotic metaphase/anaphase transition that results from deactivation of the mitotic spindle assembly checkpoint.


positive regulation of mitotic sister chromatid segregation

Any process that starts or increases the frequency, rate or extent of sister chromatid segregation during mitosis.


positive regulation of mitotic spindle elongation

Any process that activates or increases the frequency, rate or extent of mitotic spindle elongation.


Any process that stops, prevents, or reduces the frequency, rate or extent of negative regulation of mitotic spindle assembly checkpoint signaling.


positive regulation of mitotic spindle elongation (spindle phase three)

Any process that activates or increases the frequency, rate or extent of the cell cycle process in which the distance is lengthened between poles of the mitotic spindle during mitotic anaphase B (spindle phase three).


negative regulation of chronic inflammatory response to antigenic stimulus

Any process that stops, prevents, or reduces the frequency, rate, or extent of a chronic inflammatory response to an antigenic stimulus.


carotenoid isomerase activity

Catalysis of the isomerization of poly-cis-carotenoids to all-trans-carotenoids.


urethral gland

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

Any of the numerous small mucous-secreting glands located in the wall of the male or female urethra that help protect the epithelium from the corrosive urine.


female urethral gland

An urethral gland that is part of a female urethra.


minor vestibular gland

Small mucous glands opening upon the vestibular mucous membrane between the urethral and the vaginal orifice.


paraparetic variant of Guillain-Barre syndrome

Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.


olfactory organ

An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ.


osphradium

The osphradium is the olfactory organ in certain molluscs, linked with the respiration organ. The main function of this is to test incoming water for silt and other possible food particles. It is used by all members of the Genus Conus.


chronic dacryocystitis

Chronic form of dacryocystitis.


Recurrent Prostate Acinar Adenocarcinoma

The reemergence of prostate acinar adenocarcinoma after a period of remission.


Prostate cancer recurrent

Prostate carcinoma reemerging after a period of remission.


Adenocarcinoma of the prostate recurrent

The reemergence of prostate adenocarcinoma after a period of remission.


Recurrent Prostate Small Cell Neuroendocrine Carcinoma

The reemergence of prostate small cell neuroendocrine carcinoma after a period of remission.


Biochemically Recurrent Prostate Carcinoma

Increasing prostate-specific antigen (PSA) following prostatectomy or radiation therapy in a patient with a history of localized prostate carcinoma. Signs of metastasis are absent using the currently available scanning technology.


uredinium development

The process that leads to the formation of a uredinium, a reddish, pustule-like structure formed by a rust fungus and consisting of uredospores.


ocellus pigment metabolic process

The chemical reactions and pathways involving ocellus pigments, any general or particular coloring matter in living organisms, found or utilized in the ocellus, a minute simple eye found in many invertebrates.


ommochrome catabolic process

The chemical reactions and pathways resulting in the breakdown of ommochromes, any of a large group of natural polycyclic pigments commonly found in the Arthropoda, particularly in the ommatidia of the compound eye.


ocellus pigment catabolic process

The chemical reactions and pathways resulting in the breakdown of ocellus pigments, any general or particular coloring matter in living organisms, found or utilized in the ocellus, a minute simple eye found in many invertebrates.


ommochrome biosynthetic process

The chemical reactions and pathways resulting in the formation of ommochromes, any of a large group of natural polycyclic pigments commonly found in the Arthropoda, particularly in the ommatidia of the compound eye.


ocellus pigment biosynthetic process

The chemical reactions and pathways resulting in the formation of ocellus pigments, general or particular coloring matter in living organisms, found or utilized in the ocellus, a minute simple eye found in many invertebrates.


ommochrome metabolic process

The chemical reactions and pathways involving ommochromes, any of a large group of natural polycyclic pigments commonly found in the Arthropoda, particularly in the ommatidia of the compound eye.


developmental and epileptic encephalopathy, 77


multiple congenital anomalies-hypotonia-seizures syndrome 3

A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.


multiple congenital anomalies-hypotonia-seizures syndrome 2

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.


negative regulation of spore-bearing organ development

Any process that stops, prevents, or reduces the frequency, rate or extent of spore-bearing organ development, a process in which hyphae grow into special aggregates called fruiting bodies that produce new spores.


negative regulation of telium development

Any process that stops, prevents, or reduces the frequency, rate or extent of telium development, a process that leads to the formation of a teliospore-bearing sorus of the rust fungi.


negative regulation of aecium development

Any process that stops, prevents, or reduces the frequency, rate or extent of aecium development, a process in which a cuplike structure containing chains of aeciospores is formed.


negative regulation of sporocarp development involved in sexual reproduction

Any process that stops, prevents or reduces the frequency, rate or extent of sporocarp development involved in sexual reproduction.


negative regulation of oogonium development

Any process that stops, prevents, or reduces the frequency, rate or extent of oogonium development, a process that leads to the formation of a female gametangium of oomycetes, containing one or more gametes.


negative regulation of sporangium development

Any process that stops, prevents, or reduces the frequency, rate or extent of sporangium development, a process that leads to the formation of sporangium, a single-celled or many-celled structure in which spores are produced, as in fungi, algae, mosses, and ferns, gymnosperms, angiosperms.


negative regulation of conidiophore development

Any process that stops, prevents, or reduces the frequency, rate or extent of conidiophore development, a process that leads to the formation of a conidiophore. The conidiophore is a specialized hypha that extends aerially from the growth substrate and bears conidia, or asexual spores.


negative regulation of oomycete sporangium development

Any process that stops, prevents, or reduces the frequency, rate or extent of oomycete sporangium development, a process that leads to the formation of oomycete sporangium, a single-celled or many-celled structure that germinates directly to form an infection hypha or differentiate, through specialized cleavage vesicles, into between 10 and 30 zoospores, which is laterally flagellated.


negative regulation of cleistothecium development

Any process that stops, prevents, or reduces the frequency, rate or extent of cleistothecium development, a process that leads to the formation of a cleistothecium. The cleistothecium is a closed sexual fruiting body that contains ascospores in linear asci, characteristic of some filamentous Ascomycete fungi such as members of the genera Aspergillus and Emericella.


negative regulation of basidium development

Any process that stops, prevents, or reduces the frequency, rate or extent of basidium development, a process that leads to the formation of basidium, a small, specialized club-shaped structure typically bearing four basidiospores at the tips of minute projections. The basidium is unique to basidiomycetes and distinguishes them from other kinds of fungi.


negative regulation of zygosporangium development

Any process that stops, prevents, or reduces the frequency, rate or extent of zygosporangium development, a process in which a fruiting body called zygosporangium is formed.


negative regulation of ascus development

Any process that stops, prevents, or reduces the frequency, rate or extent of ascus development, a saclike structure produced by fungi of the phylum Ascomycota (sac fungi) in which sexually produced spores (ascospores), usually four or eight in number, are formed.


negative regulation of sporangium germination

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


negative regulation of phialide development

Any process that stops, prevents, or reduces the frequency, rate or extent of phialide development, a process that leads to the formation of phialides. Phialides are specialized cells that bud from the ends of metulae on the conidiophore tip.


negative regulation of uredinium development

Any process that stops, prevents, or reduces the frequency, rate or extent of uredinium development, a process that leads to the formation of a reddish, pustule-like structure formed by a rust fungus and consisting of uredospores.


cyclin D2-CDK6 complex

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

A protein complex consisting of cyclin D2 and cyclin-dependent kinase 6 (CDK6). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


cyclin D3-CDK4 complex

A protein complex consisting of cyclin D3 and cyclin-dependent kinase 4 (CDK4). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


cyclin B3-CDK2 complex

A protein complex consisting of cyclin B3 and cyclin-dependent kinase 2 (CDK2). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


transforming growth factor beta ligand-receptor complex

A protein complex that is formed by the association of a TGF-beta dimeric ligand with 2 molecules of each receptor molecule, TGF-beta type I receptor and TGF-beta type II receptor. The receptor molecules may form homo- or heterodimers but only once bound by the ligand.


P-TEFb complex

A dimeric positive transcription elongation factor complex b that comprises a cyclin-dependent kinase containing the catalytic subunit, Cdk9, and a regulatory subunit, cyclin T.


Dbf4-dependent protein kinase complex

A heterodimeric protein complex required for the activation of DNA replication origins; comprises a catalytic subunit and a regulatory subunit (in Saccharomyces, Cdc7p and Dbf4p, respectively); complexes identified in other species generally contain proteins related to the Saccharomyces proteins.


Gin4 complex

A protein complex involved in septin ring formation during mitosis. In Saccharomyces cerevisiae it consists of BNI5, CDC3, CDC10, CDC11, CDC12, GIN4, NAP1 and SHS1. At least 2 GIN4 molecules are involved.


protein kinase CK2 complex

A protein complex that possesses protein serine/threonine kinase activity, and contains two catalytic alpha subunits and two regulatory beta subunits. Protein kinase CK2 complexes are found in nearly every subcellular compartment, and can phosphorylate many protein substrates in addition to casein.


DAPK1-calmodulin complex

A serine/threonine protein kinase complex involved in cell survival, apoptosis and autophagic cell death pathways. DAPK1 is activated by the dephosphorylation of a n-terminal serine and calcium-calmodulin binding.


cyclin D1-CDK6 complex

A protein complex consisting of cyclin D1 and cyclin-dependent kinase 6 (CDK6). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


Ire1 complex

A type-I transmembrane protein complex located in the endoplasmic reticulum (ER) consisting of an IRE1-IRE1 dimer, which forms in response to the accumulation of unfolded protein in the ER. The dimeric complex has endoribonuclease (RNase) activity and evokes the unfolded protein response (UPR) by cleaving an intron of a mRNA coding for the transcription factor HAC1 in yeast or XBP1 in mammals; the complex cleaves a single phosphodiester bond in each of two RNA hairpins (with non-specific base paired stems and loops of consensus sequence CNCNNGN, where N is any base) to remove an intervening intron from the target transcript.


cyclin A1-CDK2 complex

A protein complex consisting of cyclin A1 and cyclin-dependent kinase 2 (CDK2). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


MPF complex

A complex consisting of a Cdc2-class (also known as Cdc28) cyclin-dependent kinase and an M-phase cyclin such as S. pombe Cdc13. The MPF complex phosphorylates and activates the anaphase promoting complex (APC).


cyclin E2-CDK2 complex

A protein complex consisting of cyclin E2 and cyclin-dependent kinase 2 (CDK2). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


cyclin A1-CDK1 complex

A protein complex consisting of cyclin A1 and cyclin-dependent kinase 1 (CDK1). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


DNA-dependent protein kinase complex

A protein complex that is involved in the repair of DNA double-strand breaks and, in mammals, V(D)J recombination events. It consists of the DNA-dependent protein kinase catalytic subunit (DNA-PKcs) and the DNA end-binding heterodimer Ku.


PAR polarity complex

A protein kinase complex that is required for the establishment of a cell polarity axis during the cell division cycle. Binds directly to activated CDC42 GTPase and is required for orchestrating a cellular gradient of CDC42. In S. cerevisiae components are: BEM1, CDC24 and CLA4; from worms to vertebrates it contains a PAR6 protein, PAR3 protein and an atypical PKC.


CTDK-1 complex

A positive transcription elongation factor complex that comprises the CDK kinase CTK1 (in budding yeast), Lsk1 (in fission yeast) (corresponding to the Panther PTHR24056:SF39 family), a cyclin and an additional gamma subunit (corresponding to the InterPRO entry IPR024638).


cyclin A2-CDK2 complex

A protein complex consisting of cyclin A2 and cyclin-dependent kinase 2 (CDK2). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


CKM complex

Cyclin-dependent kinase complex which reversibly associates with the Mediator complex. In Saccharomyces cerevisiae it consists of SSN2, SSN3, SSN8 and SRB8.


cyclin B1-CDK1 complex

A protein complex consisting of cyclin B1 and cyclin-dependent kinase 1 (CDK1). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


cyclin D1-CDK4 complex

A protein complex consisting of cyclin D1 and cyclin-dependent kinase 4 (CDK4). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


Pho85-Pho80 CDK-cyclin complex

A cyclin dependent kinase (CDK) complex that contains a kinase subunit and a regulatory cyclin subunit. An example of this complex in budding yeast S. cerevisiae consists of the Pho85 kinase and the Pho80 cyclin.


cyclin D3-CDK6 complex

A protein complex consisting of cyclin D3 and cyclin-dependent kinase 6 (CDK6). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


ABIN2-NFKB1-MAP3K8 complex

A protein complex that contains the precursor form of NF-kappaB (p105), the NF-kappaB inhibitor ABIN-2, and the kinase TPL-2 (MAP3K8); the complex stabilizes TPL-2 and is involved in signaling in lipopolysaccharide (LPS)-stimulated macrophages.


cyclin B2-CDK1 complex

A protein complex consisting of cyclin B2 and cyclin-dependent kinase 1 (CDK1). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


cyclin A2-CDK1 complex

A protein complex consisting of cyclin A2 and cyclin-dependent kinase 1 (CDK1). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


cyclin D2-CDK4 complex

A protein complex consisting of cyclin D2 and cyclin-dependent kinase 4 (CDK4). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


cyclin E1-CDK2 complex

A protein complex consisting of cyclin E1 and cyclin-dependent kinase 2 (CDK2). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


erythromycin catabolic process

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


polyketide catabolic process

The chemical reactions and pathways resulting in the breakdown of polyketides, any of a diverse group of natural products synthesized via linear poly-beta-ketones, which are themselves formed by repetitive head-to-tail addition of acetyl (or substituted acetyl) units indirectly derived from acetate (or a substituted acetate) by a mechanism similar to that for fatty acid biosynthesis but without the intermediate reductive steps.


F-9775A catabolic process

The chemical reactions and pathways resulting in the breakdown of F-9775A.


granaticin catabolic process

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


fonsecin catabolic process

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


F-9775B catabolic process

The chemical reactions and pathways resulting in the breakdown of F-9775B.


averantin catabolic process

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


oxytetracycline catabolic process

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


peptidyl-histidine hydroxylation

The hydroxylation of peptidyl-histidine to form peptidyl-hydroxyhistidine.


Cranial Nerve II Palsy

Partial or complete paralysis of the optic nerve.


Non-Neoplastic Optic Nerve Disorder

A non-neoplastic disorder that affects the optic nerve.


Unilateral Optic Nerve Hypoplasia

A congenital abnormality characterized by the underdevelopment of one optic nerve.


steroid sulfate

A sulfuric ester obtained by the formal condensation of a hydroxy group of any steroid with sulfuric acid.


cellular response to inositol

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 an inositol stimulus.


agmatine deiminase activity

Catalysis of the reaction: agmatine + H2O = N-carbamoylputrescine + NH3.


cataract 33

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.


3'-deoxyribose phosphate lyase activity

Catalysis of the conversion of a 3'-deoxyribose phosphate in DNA to a 3'-phosphate.


rib of vertebra 8

Rib that articulates with the parapophysis of the eighth centrum.


mammary gland cord morphogenesis

The process in which anatomical structures of the mammary gland cord are generated and organized. Mammary gland cords form when the mammary gland bud invades the mammary fat.


neuronal dense core vesicle membrane

The lipid bilayer surrounding a neuronal dense core vesicle.


Multiple Solitary Plasmacytoma of Bone

The presence of more than one plasmacytoma arising in the bone, concurrently or sequentially, in the absence of bone marrow involvement by plasma cell myeloma.


cricothyroid muscle

Intrinsic muscle of the larynx, innervated by the external division of the laryngeal nerve, a branch of the vagus nerve. It attaches to the anterolateral surface of the cricoid cartilage and the external surface of the thyroid cartilage.


superficial inguinal ring

The exit of the inguinal canal.


levator ani muscle

The Levator ani is a broad, thin muscle, situated on the side of the pelvis. It is attached to the inner surface of the side of the lesser pelvis, and unites with its fellow of the opposite side to form the greater part of the floor of the pelvic cavity. It supports the viscera in pelvic cavity, and surrounds the various structures which pass through it. In combination with the Coccygeus muscle, it forms the pelvic diaphragm. [WP,unvetted].


aryepiglotticus muscle

The aryepiglotticus is a muscle of the larynx running in the aryepiglottic fold from the arytenoid cartilage to the epiglottis.


sphincter colli superficialis muscle

The sphincter colli superficialis is composed of transverse muscle fibers, and covers the entire area between the lower jaw and chest. The muscle is used to tighten the skin on the underside of the throat.


dilatator pupillae

A smooth muscle of the eye, running radially in the iris that functions as a dilator. [WP,unvetted].


pyramidalis

The pyramidalis is a small and triangular muscle, anterior to the Rectus abdominis, and contained in the rectus sheath.


levator labii superioris

The levator labii superioris (or quadratus labii superioris) is a broad sheet, the origin of which extends from the side of the nose to the zygomatic bone. Its medial fibers form the angular head, which arises by a pointed extremity from the upper part of the frontal process of the maxilla and passing obliquely downward and lateralward divides into two slips. One of these is inserted into the greater alar cartilage and skin of the nose; the other is prolonged into the lateral part of the upper lip, blending with the infraorbital head and with the Orbicularis oris. The intermediate portion or infraorbital head arises from the lower margin of the orbit immediately above the infraorbital foramen, some of its fibers being attached to the maxilla, others to the zygomatic bone. Its fibers converge, to be inserted into the muscular substance of the upper lip between the angular head and the Caninus. The lateral fibers, forming the zygomatic head, arise from the malar surface of the zygomatic bone immediately behind the zygomaticomaxillary suture and pass downward and medialward to the upper lip. [WP,unvetted].


sternocleidomastoid

A paired muscle in the superficial layers of the anterior portion of the neck. It acts to flex and rotate the head. It also acts as an accessory muscle of inspiration, along with the scalene muscles of the neck. [WP,unvetted].


platysma

The platysma is a pharyngeal arch 2 muscle and a superficial facial muscle that participates in oral/pharyngeal behaviors and is innervated by the cervical branch of the facial nerve. It attaches to the mandible and it attaches to the skin of the head, neck, and thoracic region where it is found superficial to the clavicle. Burrows et al. (2011) argue that in hylobatids (and, presumably, other primates) the platysma in the region of the modiolus represents both the cervicale and myoides muscles.


muscle of pelvic diaphragm

A muscular partition formed by the levatores ani and coccygei, with which may be included the parietal pelvic fascia on their upper and lower aspects. It separates the pelvic cavity above from the perineal region below.


external intercostal muscle

An intercostal muscle that aids in quiet and forced inhalation via elevation of the ribs, and expanding the transverse dimensions of the thoracic cavity.


sternooccipital muscle

A muscle organ that has_muscle_insertion a occipital bone and has_muscle_origin a sternum.


crico-arytenoid muscle

Cricoarytenoid muscles are muscles that connect the cricoid cartilage and arytenoid cartilage. More specifically, it can refer to: Posterior cricoarytenoid muscle Lateral cricoarytenoid muscle.


psoas muscle

A powerful flexor of the thigh at the hip joint (psoas major) and a weak flexor of the trunk and lumbar spinal column (psoas minor). Psoas is derived from the Greek 'psoa', the plural meaning 'muscles of the loin'. It is a common site of infection manifesting as abscess (PSOAS ABSCESS). The psoas muscles and their fibers are also used frequently in experiments in muscle physiology.


abdominal external oblique muscle

The lateral abdominal wall muscle that is the most superficial, immediately superficial to the internal oblique.


muscle of larynx

The muscles associated with the larynx.


Deep Abdominal Muscle

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

The group of muscles in the torso that are closest to the spine and furthest from the skin such as the psoas muscle and the quadratus lumborum.


zygomaticus minor muscle

Facial muscle attached to the modiolus, corner (angle) of the mouth, and zygomatic bone. This muscle is ventral to the zygomaticus minor and dorsal to the platysma muscle. In many mammals this muscle also has an attachment to the cartilage of the external ear, in which case it is called the auriculolabialis inferior. See Diogo 2008; Diogo et al., 2009; Burrows et al.., 2011., also DuBrul, 1980.


craniocervical muscle

Any muscle organ that is part of either the head or the neck.


anterior abdominal wall muscle

Any skeletal muscle organ that is part of a anterior abdominal wall. Examples: the obliques, pyramidalis and transversus abdominus.


thyro-arytenoid

The Thyroarytenoid is a broad, thin, muscle which lies parallel with and lateral to the vocal fold, and supports the wall of the ventricle and its appendix. It functions in fine tonal control of the vocal cords.


buccinator muscle

The buccinator is a muscle that is attached to the mandible, skin, pterygomandibular raphe and maxilla, and is innervated by Cranial Nerve VII and participates in oropharyngeal behavior.


hyoid muscle

One of a group of muscles used in mastication and swallowing. These muscles are attached to the hyoid bone, which is suspended in the neck and forms the base of the tongue and larynx. The muscles are divided into suprahyoid (superior) or infrahyoid (inferior) groups relative to the bone[WP, generalized].


psoas major muscle

The psoas major is a long fusiform muscle placed on the side of the lumbar region of the vertebral column and brim of the lesser pelvis. It joins the iliacus muscle to form the iliopsoas. In less than 50 per cent of subjects the psoas major is accompanied by the psoas minor. [WP,unvetted].


scalene muscle

Any of the three pairs of muscles in the lateral neck, namely the scalenus anterior, scalenus medius, and scalenus posterior. They are innervated by the spinal nerves C4-C8[WP].


cremaster muscle

A thin layer of skeletal muscle that envelops the spermatic cord and testis of most male mammals in a series of loops; it is a continuation of the obliquus internus, arising from the inguinal ligament and inserting into the crest of the pubis and into the sheath of the rectus abdominis; it is innervated by the genital branch of the genitofemoral nerve and functions to draw the testis up toward the superficial inguinal ring in response to cold or to stimulation of the nerve;.


zygomaticus major muscle

Facial muscle attached to the modiolus, corner (angle) of the mouth, and zygomatic bone. See Diogo 2008; Diogo et al., 2009; Burrows et al.., 2011., also DuBrul, 1980.


psoas minor muscle

The psoas minor is a long, slender skeletal muscle that, when present, is placed in front of the psoas major muscle. [WP,unvetted].


scalenus medius

The Scalenus medius, the largest and longest of the three scalene muscles, arises from the posterior tubercles of the transverse processes of the lower six cervical vertebræ. It descendes along the side of the vertebral column to insert by a broad attachment into the upper surface of the first rib, between the tubercle and the subclavian groove. The brachial plexus and the subclavian artery pass anterior to it. Because it elevates the upper ribs, the middle scalene muscle is also one of the accessory muscles of respiration. [WP,unvetted].


arytenoid muscle

A single muscle, filling up the posterior concave surfaces of the arytenoid cartilages. It arises from the posterior surface and lateral border of one arytenoid cartilage, and is inserted into the corresponding parts of the opposite cartilage. It consists of oblique and transverse parts.


transversus abdominis muscle

The lateral abdominal wall muscle that is deep to the internal oblique.


internal anal sphincter

The smooth muscle ring, formed by an increase of the circular muscle fibers of the rectum, situated at the upper end of the anal canal, internal to the outer voluntary external anal sphincter.


sphincter pupillae

A sphincter muscle that is part of the iris.


internal intercostal muscle

An intercostal muscle that aids in forced expiration (quiet expiration is a passive process).


tongue muscle

The muscular portion of the tongue.


Structure of corrugator supercilii muscle

One of two small facial muscles that are located behind the occipitofrontalis and orbicularis oculis muscles, with which they blend, and allow movement of the eyebrows. They originate in the medial superciliary arch and insert into the skin above the middle of the supraorbital margins. They are innervated by the temporal branch of the facial nerve and supplied by branches from the superficial temporal and ophthalmic arteries.


ciliary muscle

The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted].


Procerus muscle

A pyramid-shaped muscle in the face that allows movement of the skin between the eyebrows. It originates on the lower part of the nasal bone and inserts into the frontalis muscle in the forehead. It is innervated by branches of the facial nerve and supplied by the facial artery.


abdominal internal oblique muscle

The lateral abdominal wall muscle that is deep to the external oblique and superficial to the transversus.


scalenus posterior

The Scalenus posterior (Scalenus posticus), the smallest and most deeply seated of the three Scaleni, arises, by two or three separate tendons, from the posterior tubercles of the transverse processes of the lower two or three cervical vertebræ, and is inserted by a thin tendon into the outer surface of the second rib, behind the attachment of the serratus ventralis. It is occasionally blended with the Scalenus medius. [WP,unvetted].


Coccygeal muscle

A muscle of the pelvic diaphragm located posterior the levator ani muscle, which arises from the ischial spine and inserts into the coccyx and lowest area of the sacrum, and functions to raise and support the pelvic floor.


urinary bladder detrusor smooth muscle

Bundles of smooth muscle fibers forming the muscular wall of the urinary bladder, which are arranged in a longitudinal and a circular layer and, on contraction, serve to expel urine[MP].


external anal sphincter

The Sphincter ani externus (external anal sphincter) is a flat plane of muscular fibers, elliptical in shape and intimately adherent to the integument surrounding the margin of the anus. [WP,unvetted].


nasal muscle

Any muscle organ that is part of an nose.


digastric muscle group

A group of muscles (or in some classifications, muscle bellies) that are located under the jaw and attach to the base of the cranium and typically attaches to the hyoid apparatus via a common tendon.


thyroepiglotticus muscle

Fibers of the thyroarytenoid muscle that continue to the margin of the epiglottis; it closes the inlet to the larynx.


iliacus muscle

The iliacus is a flat, triangular muscle, which fills the iliac fossa. [WP,unvetted].


quadratus lumborum

An abdominal muscle that inserts on the last rib and transverse processes of lumbar vertebrae. It is irregular and quadrilateral in shape, and broader below than above.


cutaneous trunci muscle

Lying just below the skin, cutaneus trunci is one of very few cutaneus muscles. It composes of a thin sheets of muscle that spred over the body in the superficial fasciae. Their role is to twich the skin to rid of pests etc. Cuteneus muscles are found in all domestic species.


muscle of auditory ossicle

A muscle of the tympanic cavity that attaches to an auditory ossicle.


deep inguinal ring

The entrance to the inguinal canal.


Superficial Abdominal Muscle

Any one of the anterior or anterolateral abdominal wall muscles, including the cremaster muscle, pyramidalis muscle, external oblique, internal oblique, transversus abdominis, and rectus abdominis muscles.


masticatory muscle

In humans: Muscles arising in the zygomatic arch that close the jaw. Their nerve supply is masseteric from the mandibular division of the trigeminal nerve. (From Stedman, 25th ed).


chlorocycloalkane

A chlorohydrocarbon that is any cycloalkane substituted by at least one chloro group.


chlorocyclohexane

Any chlorocycloalkane that is cyclohexane substituted by at least one chlorine group.


Disrupted Suture

The loss of tension or continuity of sutures.


ovarian microcystic stromal tumor

A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma.


benign ovarian sex cord-stromal tumor

A sex cord-stromal tumor arising from the ovary, without metastatic potential.


ovarian fibrothecoma

A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).


phyllodes tumor

A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.


prostate phyllodes tumor

An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma.


Borderline Vulvar Phyllodes Tumor

A rare borderline phyllodes tumor arising from the vulva.


benign prostate phyllodes tumor

A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells.


Refractory Malignant Phyllodes Tumor

Malignant phyllodes tumor that is resistant to treatment.


Phyllodes Tumor of Anogenital Mammary-Type Glands

A rare phyllodes tumor that arises from mammary-like glands in the anogenital region.


Malignant Vulvar Phyllodes Tumor

A rare malignant phyllodes tumor arising from the vulva.


benign phyllodes tumor

A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features.


malignant phyllodes tumor

A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.


Benign Vulvar Phyllodes Tumor

A rare benign phyllodes tumor arising from the vulva.


Childhood Breast Phyllodes Tumor

A phyllodes tumor that arises from the breast and occurs during childhood.


Vulvar Phyllodes Tumor

A rare benign, borderline, or malignant phyllodes tumor arising from the vulva.


Borderline phyllodes tumor

A phyllodes tumor with morphologic characteristics which are intermediate between a benign and a malignant phyllodes tumor. The stromal sarcomatous changes are of low grade and are often reminiscent of low grade fibrosarcomas.


malignant prostate phyllodes tumor

An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia.


positive regulation of shell calcification

Any process that activates or increases the frequency, rate or extent of shell calcification.


negative regulation of enamel mineralization

Any process that stops, prevents, or reduces the frequency, rate or extent of enamel mineralization, the deposition of calcium salts in tooth enamel.


regulation of shell calcification

Any process that modulates the frequency, rate or extent of shell calcification.


negative regulation of shell calcification

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


positive regulation of enamel mineralization

Any process that activates or increases the frequency, rate or extent of enamel mineralization, the deposition of calcium salts in tooth enamel.


megalencephalic leukoencephalopathy with subcortical cysts 4, remitting


paternal uniparental disomy of chromosome 7

Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).


Injury to stomach with open wound into cavity

Trauma to the stomach associated with a break in the tissue that extends into the abdominal cavity.


deferent duct artery

An artery in males that provides blood to the vas deferens. The artery usually arises from the anterior trunk of the superior vesical artery. It accompanies the vas deferens into the testis, where it anastomoses with the testicular artery. In this way it also supplies blood to the testis and epididymis. A small branch supplies the ureter[WP].


spindle cell neoplasm

A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells.


ciliary body spindle cell melanoma

A spindle cell melanoma that involves the ciliary body.


spindle cell lipoma

A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity.


iris spindle cell melanoma

A spindle cell melanoma that involves the iris.


desmoplastic melanoma

A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.


malignant spindle cell neoplasm

A malignant neoplasm characterized by the presence of atypical spindle cells.


spindle cell melanoma

A melanoma characterized by the presence of malignant spindle-shaped melanocytes.


spindle cell intraocular melanoma

A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes.


buccal salivary gland

A salivary gland that is part of a cheek.


Catalysis of the reaction: heteroglycan + GDP-mannose = (1->3)-alpha-D-mannosylheteroglycan + GDP.


Complex Endometrial Hyperplasia with Atypia

A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures.  It is associated with cytologic atypia and an increased risk of endometrial adenocarcinoma.


Ampulla of Vater Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor

A well differentiated neuroendocrine tumor that arises from the ampulla of Vater and the periampullary region.  It produces serotonin.


gonococcal cystitis

An cystitis caused by infection with Neisseria gonorrhoeae.


acute gonococcal cystitis

Acute form of gonococcal cystitis.


endonucleolytic cleaveage between SSU-rRNA and LSU-rRNA of tetracistronic rRNA transcript (SSU-rRNA, LSU-rRNA, 4.5S-rRNA, 5S-rRNA)

Endonucleolytic cleavages between the SSU-rRNA and the LSU-rRNA of an rRNA molecule originally produced as a tetracistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, Large Subunit (LSU) the 4.5S rRNA, and the 5S rRNA in that order from 5' to 3' along the primary transcript. These cleavages liberate tRNAs from the polycistronic transcript as well as separating the SSU and LSU containing transcript. Note that the use of the word tetracistronic refers only to the number of mature rRNA molecules which will be produced from the primary transcript and ignores tRNAs that may also be present within the primary transcript.


amine

A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups.


(S)-clenbuterol

The (S)-enantiomer of clenbuterol.


(R)-dobutamine

The (R)-enantiomer of dobutamine.


A tautomer of pyrrole that has the double bonds at positions 2 and 4.


(S)-diethylpropion

The (S)-enantiomer of amfepramone.


A 2-phenylcyclopropan-1-amine that is the (1S,2R)-enantiomer of tranylcypromine.


secondary amine

A compound formally derived from ammonia by replacing two hydrogen atoms by hydrocarbyl groups.


A propanoate ester that is propyl propanoate substituted by a benzyl and phenyl group at position 1, a methyl group at position 2 and a dimethylamino group at position 3.


primary arylamine

A primary amine formally derived from ammonia by replacing one hydrogen atom by an aryl group. R-NH2 where R is an aryl group.


aralkylamine

An alkylamine in which the alkyl group is substituted by an aromatic group.


(S)-dobutamine

The (S)-enantiomer of dobutamine.


A 2-phenylcyclopropan-1-amine that is the (1R,2S)-enantiomer of tranylcypromine.


alkylamine

Any primary amine in which the substituent attached to nitrogen is an alkyl group.


(R)-clenbuterol

The (R)-enantiomer of clenbuterol.


amino fatty acid

A fatty acid containing at least one amino substituent.


(R)-amphetamine

A 1-phenylpropan-2-amine that has R configuration.


omega-amino fatty acid

Any fatty acid n atoms long having an amino substituent at position n (omega).


amphetamines

Amines that constitute a class of central nervous system stimulants based on the structure of the parent amphetamine 1-phenylpropan-2-amine.


primary amine

A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group.


alkylamines

Any amine formally derived from ammonia by replacing one, two or three hydrogen atoms by alkyl groups.


tertiary amine

A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups.


gallate catabolic process via gallate dioxygenase activity

The chemical reactions and pathways resulting in the breakdown of gallate, the anion of gallic acid, where the first step is the conversion of gallate to (1E)-4-oxobut-1-ene-1,2,4-tricarboxylate catalyzed by gallate dioxygenase.


aerobic gallate catabolic process

The chemical reactions and pathways resulting in the breakdown of gallate, the anion of gallic acid, in the presence of oxygen.


gallate catabolic process via 2-pyrone-4,6-dicarboxylate

The chemical reactions and pathways resulting in the breakdown of gallate, the anion of gallic acid, via the intermediate 2-pyrone-4,6-dicarboxylate.


non-syndromic syndactyly

A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.


syndactyly type 5

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.


non-syndromic synpolydactyly

A synpolydactyly that is not part of a larger syndrome.


polysyndactyly 4

Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.


syndactyly type 1

Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.


mesoaxial synostotic syndactyly with phalangeal reduction

Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.


syndactyly type 6

Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.


syndactyly type 4

A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).


syndactyly type 8

Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.


synpolydactyly type 2

Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.


syndactyly type 3

Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.


chalcone biosynthetic process

The chemical reactions and pathways resulting in the formation of chalcone, phenyl steryl ketone or its hydroxylated derivatives.


familial avascular necrosis of femoral head

Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.


outer renal medulla peritubular capillary

A peritubular capillary that is part of a outer medulla of kidney.


peritubular capillary

The tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure.


renal cortex peritubular capillary

A peritubular capillary that is part of a cortex of kidney.


Advanced Malignant Small Intestinal Neoplasm

A malignant small intestinal neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.


Malignant neoplasm of small intestine, incl duodenum metastatic

A malignant small intestinal neoplasm that has spread from its original site of growth to another anatomic site.


Locally Advanced Small Intestinal Carcinoma

Small intestinal carcinoma that has spread to nearby tissues or lymph nodes.


Advanced Small Intestinal Small Cell Neuroendocrine Carcinoma

A small intestinal small cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Small intestine adenocarcinoma metastatic

An adenocarcinoma that arises from the small intestine and has metastasized to other anatomic sites.


Advanced Small Intestinal Neuroendocrine Carcinoma

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


Locally Advanced Small Intestinal Adenocarcinoma

Small intestinal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Advanced Small Intestinal Large Cell Neuroendocrine Carcinoma

A small intestinal large cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Small intestine carcinoma metastatic

A carcinoma that arises from the small intestine and it has metastasized to other anatomic sites.


Metastatic Small Intestinal Neuroendocrine Carcinoma

A small intestinal neuroendocrine carcinoma that has spread from its original site of growth to another anatomic site.


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14


myopathy caused by variation in GMPPB

Any myopathy in which the cause of the disease is a variation in the GMPPB gene.


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14


autosomal recessive limb-girdle muscular dystrophy type 2T

Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.


hexadecanal metabolic process

The chemical reactions and pathways involving hexadecanal, the C16 straight chain aldehyde.


hexadecanal biosynthetic process

The chemical reactions and pathways resulting in the formation of hexadecanal, the C16 straight chain aldehyde.


cytochrome-c oxidase deficiency disease

A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.


ENSAT Stage III Adrenal Cortical Carcinoma

Stage III includes: T3/T4, N0/N1, M0.  Tumor of any size that has spread to the fat outside the adrenal gland or into nearby organs or tissues and/or has spread to the regional lymph nodes. (ENSAT 7th Ed, 2009)


Adrenal Cortical Carcinoma by ENSAT Stage

A term that refers to the staging of adrenal cortical carcinoma according to the European Network for the Study of Adrenal Tumors (ENSAT).


ENSAT Stage I Adrenal Cortical Carcinoma

Stage I includes: T1, N0, M0.  Tumor 5 cm or less in greatest dimension. The tumor has not invaded the surrounding tissues or organs and has not spread to lymph nodes or distant organs or tissues.  (ENSAT 7th Ed, 2009)


ENSAT Stage II Adrenal Cortical Carcinoma

Stage II includes: T2, N0, M0. Tumor greater than 5 cm. The tumor has not invaded surrounding tissues or organs and has not spread to lymph nodes or distant organs or tissues. (ENSAT 7th Ed, 2009)


ENSAT Stage IV Adrenal Cortical Carcinoma

Stage IV includes: Any T, Any N, M1. Tumor of any size that involves distant organs such as liver, bone or brain. The tumor may or may not involve nearby organs, tissues or lymph nodes. (ENSAT 7th Ed, 2009)


plasma membrane-derived photosystem I

A protein complex located in the plasma membrane-derived thylakoid. The photosystem functions as a light-dependent plastocyanin-ferredoxin oxidoreductase, transferring electrons from plastocyanin to ferredoxin. Examples of this complex are found in bacterial species.


negative regulation of TORC2 signaling

Any process that stops, prevents or reduces the frequency, rate or extent of TORC2 signaling.


regulation of TORC2 signaling

Any process that modulates the frequency, rate or extent of TORC2 signaling.


positive regulation of TORC2 signaling

Any process that activates or increases the frequency, rate or extent of TORC2 signaling.


Dsc E3 ubiquitin ligase complex

An E3 ubiquitin ligase complex localized to the ER and Golgi membrane. In fission yeast comprises Dsc1, 2, 3 and 4. Involved in the processes of fission yeast sre1 (human SREBP) transcriptional activator proteolytic cleavage, the multivesicular body (MVB) pathway, and a post-endoplasmic reticulum pathway for protein catabolism.


non-intein-mediated protein splicing

The post-translational removal of peptide sequences from within a protein sequence, by a process not involving inteins.


Open fracture of carpal bone, unspecified

A traumatic break in one or more of the carpal bones that  involves a break in the adjacent skin.


Closed fracture of carpal bone

A traumatic break in one or more of the carpal bones  that does not involve a break in the adjacent skin.


internal genitalia morphogenesis

The process in which the anatomical structures of the internal genitalia are generated and organized. The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals.


Catalysis of the reaction: S-adenosylmethioninamine + cadaverine = 5'-methylthioadenosine + N-(3-aminopropyl)cadaverine.


trichorhinophalangeal syndrome, type III

A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.


peptidoglycan-protein cross-linking via N6-mureinyl-L-lysine

The process of linking a protein to peptidoglycan via the epsilon amino group of lysine to the diaminopimelic acid of the peptidoglycan.


peptidoglycan turnover

The continual breakdown and regeneration of peptidoglycan required to maintain the cell wall.


galactosaminoglycan metabolic process

The chemical reactions and pathways involving galactosaminoglycans, any one of a group of polysaccharides that contain amino sugars derived from the galactose.


peptidoglycan biosynthetic process

The chemical reactions and pathways resulting in the formation of peptidoglycans, any of a class of glycoconjugates found in bacterial cell walls.


peptidoglycan-protein cross-linking via L-threonyl-pentaglycyl-murein

The process of linking a protein to peptidoglycan via a carboxy terminal threonine carboxyl group through a pentaglycyl peptide to the lysine or diaminopimelic acid of the peptidoglycan.


peptidoglycan-protein cross-linking via L-alanyl-pentaglycyl-murein

The process of linking a protein to peptidoglycan via a carboxy terminal alanine carboxyl group through a pentaglycyl peptide to the lysine or diaminopimelic acid of the peptidoglycan.


The chemical reactions and pathways resulting in the formation of galactosaminoglycans, any of a group of polysaccharides that contain amino sugars derived from the galactose.


protein-chondroitin sulfate linkage via chondroitin sulfate D-glucuronyl-D-galactosyl-D-galactosyl-D-xylosyl-L-serine

Chondroitin sulfate components are covalently linked to a core glycoprotein via O-glycosidic linkages between xylose and serine residues.


peptidoglycan-protein cross-linking

The process of covalently linking peptidoglycan (murein) to proteins.


Cyst of nasal cavity

An epithelium-lined cyst in the nasal cavity.


Catalysis of the reaction: GDP-beta-L-galactose + alpha-D-glucose 1-phosphate = beta-L-galactose-1-phosphate + GDP-alpha-D-glucose.


autosomal dominant nonsyndromic hearing loss 65

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.


saccharopine oxidase activity

Catalysis of the reaction: L-saccharopine + O2 = L-2-aminoadipic 6-semialdehyde + L-glutamate + H2O2.


Probable Acute COVID-19 Case

A presumed acute COVID-19 infection as evidenced by detection of SARS-CoV-2 by antigen test in a respiratory specimen, by meeting clinical criteria and epidemiological linkage criteria for COVID-19 with no confirmatory laboratory testing performed, or by a death certificate that lists COVID-19 disease or SARS-CoV-2 as an underlying cause of death or a significant condition contributing to death with no confirmatory laboratory evidence of SARS-CoV-2.


Coronavinae infectious disease

Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine).


Pulmonary Thromboembolic Disease Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Intravascular migration of a venous embolus to the pulmonary arterial circulation, microvascular thrombosis in the pulmonary capillaries, or pulmonary artery thrombus in situ diagnosed by a positive pulmonary angiogram, an unequivocally positive helical CT scan, a high-probability ventilation-perfusion scan, or autopsy that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Post-Acute Cardiovascular Sequelae of COVID-19

Cardiovascular sequelae persisting weeks or months after SARS-CoV-2 infection.


Supraventricular Tachyarrhythmia Other than Atrial Fibrillation or Atrial Flutter Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Supraventricular tachycardia other than atrial fibrillation or atrial flutter in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Ischemic Cardiomyopathy Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Reduced left ventricular function with less than 50% ejection fraction in a patient with history of suspected or confirmed myocardial ischemia or acute coronary syndrome (ACS) that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


long COVID-19

A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction.


Atrial Flutter Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Atrial flutter in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Symptomatic COVID-19 Infection Laboratory-Confirmed

An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and is symptomatic at the time of testing.


Pericarditis Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Pericarditis that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Confirmed Acute COVID-19 Case

An acute COVID-19 infection that is verified by detection of SARS-CoV-2 RNA in a clinical or autopsy specimen using a molecular amplification test (e.g., RT-PCR).


A disease caused by infection with severe acute respiratory syndrome coronavirus 2.


Pericardial Effusion Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Pericardial effusion that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Atrial Fibrillation Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Atrial fibrillation in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Severe COVID-19 Infection

An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is hospitalized, requires respiratory support, and may also require additional organ support including vasopressor therapy, renal replacement therapy, or extracorporeal membrane oxygenation. (based on WHO COVID-19 Disease Severity 5, 6 and 7)


Asymptomatic COVID-19 Infection Laboratory-Confirmed

An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and is asymptomatic at the time of testing.


Middle East respiratory syndrome

A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.


Cardiac Structural Abnormalities Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Cardiac structural changes or abnormalities characterized by myocardial systolic dysfunction or myocardial edema or fibrosis on non-invasive cardiac imaging that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


New-onset Heart Failure Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

New onset of heart failure with a clinical syndrome of dyspnea, fatigue, fluid retention/peripheral edema that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Suspected Acute COVID-19 Case

A likely acute COVID-19 infection as evidenced by detection of specific antibody in serum, plasma, or whole blood, or detection of specific antigen by immunocytochemistry in an autopsy specimen.


Prior COVID-19 Infection With Residual Sequelae of Post-Acute COVID-19

A finding indicating that there is prior evidence of COVID-19 in an individual who has residual sequelae of post-acute COVID-19.


Moderate COVID-19 Infection

An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is hospitalized and may require oxygen therapy. (based on WHO COVID-19 Disease Severity 3 and 4)


Prior COVID-19 Infection Without Residual Sequelae of Post-Acute COVID-19

A finding indicating that there is prior evidence of COVID-19 in an individual who has no residual sequelae of post-acute COVID-19.


Mild COVID-19 Infection

An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is still ambulatory but may have limitation of their activities. (based on WHO COVID-19 Disease Severity 1 and 2)


Neurovascular Disorder Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

A disorder of the nervous system related to a vascular etiology that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Deep Venous Thrombosis Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Formation of multiple thrombi in the large veins of the body, diagnosed with Doppler ultrasound, occurring most frequently in lower extremities or upper extremities, that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


COVID Reinfection

A new, discrete episode of acute COVID-19 in an individual with a prior history of probable/confirmed COVID-19.


Non-Ischemic Cardiomyopathy Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Reduced left ventricular function with less than 50% ejection fraction but without evidence of myocardial ischemia that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Current Seasonal Coronavirus Infection

Seasonal coronavirus infection is evident at the time of testing.


Prior COVID-19 Infection

A finding indicating that there is prior evidence of COVID-19 in an individual who is no longer in the infectious period.


chromosome Y disorder

Chromosomal disorder in which chromosome Y is affected.


isochromosomy Yq

Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.


spermatogenic failure, Y-linked, 2

A Y-linked genetic condition caused by mutation(s) in the USP9Y gene, encoding probable ubiquitin carboxyl-terminal hydrolase FAF-Y.  It is associated with male infertility secondary to nonobstructive azoospermia and hypospermatogenesis.


48,XYYY syndrome

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


partial chromosome Y deletion

Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.


ring chromosome Y

Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.


49,XYYYY syndrome

49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.


isochromosomy Yp

Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.


polygalacturonase activity

Catalysis of the random hydrolysis of (1->4)-alpha-D-galactosiduronic linkages in pectate and other galacturonans.


non-replicative DNA transposition

Process by which a transposable element is excised from the donor site and integrated at the target site without replication of the element. Also referred to as cut-and-paste transposition.


replicative DNA transposition

Process of transposition in which the existing element is replicated and one of the copies is excised and integrated at a new target site. Also referred to as copy-and-paste transposition.


Pancreatic Well Differentiated Ductal Adenocarcinoma

A pancreatic ductal adenocarcinoma characterized by the presence of duct-like structures and medium-sized malignant glandular structures.


Stage M3 Pineoblastoma

Gross nodular seeding is detected in the spinal subarachnoid space. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.)


A SNARE complex that contains synaptotagmin, synaptobrevin 2 (VAMP2), SNAP-25, syntaxin 1a, syntaxin1b, and Unc13b (or orthologs thereof).


cellular response to iron(II) ion

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 an iron(II) ion stimulus.


regulation of chemorepellent activity

Any process that modulates the frequency, rate or extent of chemorepellent activity.


negative regulation of chemorepellent activity

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


positive regulation of chemorepellent activity

Any process that activates or increases the frequency, rate or extent of chemorepellent activity.


(R,R)-asenapine

A 5-chloro-2-methyl-2,3,3a,12b-tetrahydrodibenzo[2,3:6,7]oxepino[4,5-c]pyrrole in which both of the stereocentres have R configuration.


secretory dimeric IgA immunoglobulin complex

A dimeric form of secretory IgA immunoglobulin complex.


negative regulation of TRAIL-activated apoptotic signaling pathway

Any process that stops, prevents or reduces the frequency, rate or extent of TRAIL-activated apoptotic signaling pathway.


L-methionine biosynthetic process from homoserine via O-succinyl-L-homoserine and cystathionine

The chemical reactions and pathways resulting in the formation of L-methionine from other compounds, including homoserine, via the intermediates O-succinyl-L-homoserine and cystathionine.


Childhood Cutaneous Melanoma

A rare melanoma of the skin that occurs during childhood.


photosystem I antenna complex

The antenna complex of photosystem I. A photosystem has two closely linked components, an antenna containing light-absorbing pigments and a reaction center. Each antenna contains one or more light-harvesting complexes (LHCs).


salt aversion

The specific avoidance actions or reactions of an organism in response to the perception of salt.


larval feeding behavior

Feeding behavior in a larval (immature) organism.


nematode pharyngeal pumping

The contraction and relaxation movements of the pharyngeal muscle that mediate feeding in nematodes.


metanephric glomerular endothelium

The metanephric glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus of the metanephros[GO].


metanephric glomerular epithelium

A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros[GO].


poly(hydroxyalkanoate) biosynthetic process from glucose

The chemical reactions and pathways resulting in the formation of poly(hydroxyalkanoate) from glucose.


poly(hydroxyalkanoate) biosynthetic process from fatty acid

The chemical reactions and pathways resulting in the formation of poly(hydroxyalkanoate) from fatty acid.


skin sensitivity to sun

The response of human skin to sun exposure.


acromelanosis

Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life.


temperature-sensitive oculocutaneous albinism type 1

Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).


hyperpigmentation, progressive cribriform and zosteriform


Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.


Griscelli syndrome type 3

A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.


Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.


minimal pigment oculocutaneous albinism type 1

Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.


oculocutaneous albinism type 1

Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).


familial generalized lentiginosis

Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.


severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome


deaf blind hypopigmentation syndrome, Yemenite type

Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.


hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterized by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.


Tietz syndrome

Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.


reticulate acropigmentation of Kitamura

A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.


oculocutaneous albinism type 6

A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.


Dowling-Degos disease 2

Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.


albinism-hearing loss syndrome

A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.


Hermansky-Pudlak syndrome 5

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.


nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.


Hermansky-Pudlak syndrome 7

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.


Hermansky-Pudlak syndrome 9

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.


Dowling-Degos disease 4

Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.


oculocutaneous albinism type 7

Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.


oculocutaneous albinism type 5

Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.


dyschromatosis universalis hereditaria 1


Hermansky-Pudlak syndrome 8

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.


Griscelli syndrome

Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).


Griscelli syndrome type 1

A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.


Dowling-Degos disease

A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.


Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.


linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies


Hermansky-Pudlak syndrome 10

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.


osteopathia striata-pigmentary dermopathy-white forelock syndrome

Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.


oculocutaneous albinism

Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.


autosomal dominant oculocutaneous albinism

Autosomal dominant form of oculocutaneous albinism.


piebald trait-neurologic defects syndrome

Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.


oculocerebral hypopigmentation syndrome, Cross type

Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.


Hermansky-Pudlak syndrome 3

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.


deafness, congenital, with total albinism


dyschromatosis universalis hereditaria 2


syndromic oculocutaneous albinism

A oculocutaneous albinism that is part of a larger syndrome.


hyperpigmentation with or without hypopigmentation, familial progressive


oculocutaneous albinism type 3

Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.


familial progressive hyperpigmentation

Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.