Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Refractory Malignant Head and Neck Neoplasm	NCIT_C152078	[A malignant head and neck neoplasm that is resistant to treatment.]
Venous Angioleiomyoma	NCIT_C49111	[A morphologic variant of angioleiomyoma characterized by the presence of thick-walled veins.]
Selenoprotein F	NCIT_C126955	[Selenoprotein F (162 aa, ~18 kDa) is encoded by the human SELENOF gene. This protein binds selenium and may play a role in protein folding.]
Trace Metal Storage Protein	NCIT_C20315	[A protein that binds to and stores essential metals in the body both to make them available for biological processes and to prevent the toxic effects of free metals in an organism.]
Endoplasmic Reticulum	NCIT_C13230	[The endoplasmic reticulum is a network of tubular membranes within the cytoplasm of the cell, occurring either with a smooth surface (smooth endoplasmic reticulum) or studded with ribosomes (rough endoplasmic reticulum), involved in the transport of materials. (Infoplease Dictionary)]
SELENOF Gene	NCIT_C126953	[This gene plays a role in selenium binding.]
DDX41 Gene Mutation	NCIT_C151900	[A change in the nucleotide sequence of the DDX41 gene.]
Venous Type Vascular Channel Formation	NCIT_C49112
C2 Gene	NCIT_C126956	[This gene is involved in the classical pathway of the complement system.]
Complement Component Gene	NCIT_C21518	[These genes encode more than 30 proteins of the complement system engaged in host defense. This system provides both an independent immune system capable of attacking microbes as well as other foreign material and an adjunct to the antibody system. Once activated, the complement system fires in a cascade-like fashion in which one component activates the next. Both swift and powerful, millions of complement components can deposit on an invading microbe within only a few minutes. Such a potent system requires strict regulation to avoid host injury. Membrane cofactor protein (MCP) is one critical regulator aimed at controlling inadvertent complement activation on host cells and nearly every cell examined expresses MCP on its cell membrane.]
Proteolytic Processing	NCIT_C19900	[Generally irreversible, Proteolytic Processing involves removal of peptide segments from proteins, usually from the N- or C-terminus and often during polypeptide maturation, to regulate activity, location, or stability.]
Myeloid Neoplasms with Germline Predisposition without a Preexisting Disorder or Organ Dysfunction	NCIT_C151897	[Familial myeloid neoplasms associated with germline mutations without a preexisting disorder or organ dysfunction.]
Slit-Like Vascular Channel Formation	NCIT_C49113
C2 wt Allele	NCIT_C126957	[Human C2 wild-type allele is located in the vicinity of 6p21.3 and is approximately 48 kb in length. This allele, which encodes complement C2 protein, plays a role in proteolysis and complement activation. Mutation of the gene is associated with C2 deficiency and increased susceptibility for age-related macular degeneration.]
Regulation of Nuclear Division	NCIT_C40780	[Nuclear Division Alteration involves a change in the quality of the existing state of the complex cell division process (consisting of prophase, prometaphase, metaphase, anaphase, telophase) by which two daughter nuclei receive identical complements of the chromosomes and DNA content characteristic of the original somatic cells of the species.]
Complement C2	NCIT_C126958	[Complement C2 (752 aa, ~83 kDa) is encoded by the human C2 gene. This protein is involved in post-translational protein processing and complement activity.]
Complement Component Protein	NCIT_C21523	[Any of the serum proteins that interact with antigen antibody complex to produce cytolytic, chemotaxic, anaphylactic, and other effects. (from CSP2000)]
Myeloid Neoplasms with Germline RUNX1 Mutation	NCIT_C151903	[An autosomal dominant syndrome characterized by abnormalities in platelet number and function and enhanced risk of developing myelodysplastic syndrome/acute myeloid leukemia at a young age. Patients have germline monoallelic mutations in RUNX1 gene. The clinical presentation is variable, even within the same family. Most affected individuals have a mild to moderate bleeding tendency. Platelet counts are normal or mildly reduced, with normal platelet morphology and variable degrees of platelet dysfunction. Distinct families with germline RUNX1 mutations exhibit varying risks of development of myeloid neoplasms with 11-100% (median: 44%) of family members affected. (WHO 2017)]
ADGRE1 wt Allele	NCIT_C126951	[Human ADGRE1 wild-type allele is located in the vicinity of 19p13.3 and is approximately 53 kb in length. This allele, which encodes adhesion G protein-coupled receptor E1 protein, plays a role in cell-cell adhesion of immune cells.]
ADGRE1 Gene	NCIT_C126950	[This gene is involved in immunity, cell adhesion and G protein-coupled receptor signaling.]