Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Gonadotropin-Resistant Ovary Syndrome	NCIT_C131862	[Ovarian dysfunction due to a defect at the receptor or post receptor level, or due to the presence of antibodies against gonadotropin receptors, resulting in deficient gonadotropin signaling that causes elevated concentrations of follicle stimulating hormone and/or luteinizing hormone. A distinguishing feature is the presence of normal numbers of ova.]
Ovarian Non-Neoplastic Disorder	NCIT_C27627	[A non-neoplastic disorder that affects the ovary. Representative examples include endometriosis and polycystic ovarian disease.]
Mesothelial Hyperplasia	NCIT_C35861	[A hyperplasia of the mesothelial cells.]
Iatrogenic Contrasexual Pubertal Development	NCIT_C131863	[Contrasexual pubertal development caused by medical intervention.]
Contrasexual Sexual Development	NCIT_C120187	[The development of secondary sexual characteristics contrary to pre-pubertal phenotype (feminization in boys; virilization in girls).]
Adrenal Gland Pheochromocytoma	NCIT_C35862	[A pheochromocytoma occurring in the adrenal gland (which is the typical site of pheochromocytomas). -- 2004]
Idiopathic 46,XY Differences of Sex Development	NCIT_C131864	[Conditions affecting individuals whose karyotype is 46,XY that is characterized by atypical development of the internal or external sex structures, or the gonads, and in whom no genetic, environmental, or biochemical causation can be established.]
Sexual Differentiation Disorder	NCIT_C103186	[A congenital disorder characterized by abnormalities in the development of the sexual characteristics.]
Malignant Adrenal Gland Pheochromocytoma	NCIT_C35863
Luteinizing Hormone Deficiency	NCIT_C131865	[Subnormal concentration of luteinizing hormone.]
Isolated Non-Pigmented Micronodular Adrenal Hyperplasia	NCIT_C131866	[A subtype of micronodular adrenal hyperplasia, characterized by multiple non-pigmented nodules.]
Micronodular Adrenal Hyperplasia	NCIT_C127165	[Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually less than one centimeter in diameter.]
Miniature Adult Form of AHC	NCIT_C131867	[An autosomal recessive or sporadic form of adrenal hypoplasia congenita frequently associated with central nervous system anomalies including anencephaly and pituitary defects. Histologically the adrenal gland is distinguished by the absence of fetal adrenal cortex and the presence of a small amount of normal, permanent adult adrenal cortex.]
Congenital Adrenal Gland Hypoplasia	NCIT_C35261	[A rare genetic disorder that affects the adrenal gland. It usually presents in infancy with signs and symptoms of adrenal insufficiency. If it is not recognized and treated promptly, it may be lethal.]
Metaphyseal Chondrodysplasia, Jansen Type	NCIT_C131868	[A form of metaphyseal chondrodysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and a small mandible. Hypercalcemia and hypophosphatemia due to PTH resistance can appear later in childhood.]
Metal Ion Binding	NCIT_C19426	[Reference to a chemical group or moiety that can complex or chelate a metal ion.]
Synuclein Family	NCIT_C21217	[Small, soluble Synuclein Family proteins are a group of highly conserved post-transcriptionally modified Alpha, Beta, and Gamma proteins expressed primarily in neural tissue and often localized near synaptic vesicles. Synucleins may inhibit PLD2 and regulate vesicular transport. In the N-terminal portion, synucleins have a conserved repeated 11-residue amphipathic alpha-helical motif similar to the lipid-binding A2 domain of apolipoproteins. Synucleins also contain several repeated variations of a highly conserved KTKEGV domain, also present in rho family proteins. In brain, synucleins may be phosphorylated by Ca2+ calmodulin protein kinase II. Synucleins are overexpressed in breast carcinomas and mutations are associated with neurodegenerative illnesses.]
Gamma-Synuclein	NCIT_C21218	[Gamma-synuclein (127 aa, ~13 kDa) is encoded by the human SNCG gene. This protein may be involved in axon architecture and neurofilament network integrity.]
Stromal Interaction Molecule 1	NCIT_C21219	[Stromal interaction molecule 1 (685 aa, ~77 kDa) is encoded by the human STIM1 gene. This protein is involved in the modulation of calcium transport by stimulating calcium channel formation.]
Ribonucleotide Reductase Subunit	NCIT_C21212	[Encoded by Ribonucleotide Reductase Subunit Genes (RRM1 and RRM2), the M1 Chain and M2 Chain subunits compose Ribonucleoside-Diphosphate Reductase, a heterodimeric cytoplasmic enzyme essential in dividing cells that reduces ribonucleotides to deoxyribonucleotide precursors for DNA synthesis in S phase. Enzyme activity closely correlates with the cellular rate of growth and appears to vary with the cell cycle. A substrate site and catalytic site regulate enzyme activity. Allosteric control by deoxynucleoside triphosphates and by ATP bound to M1 prevents DNA replication and cell proliferation. An M1 catalytic site only forms in the presence of M2. M2 synthesis is cell-cycle dependent. p53 regulates ribonucleotide reductase by interaction with p53R2 as well as the M2 subunit. (NCI)]