Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Sunscreen	NCIT_C851
Dioxybenzone	NCIT_C74399
Alepride	NCIT_C74450
Antiemetic Agent	NCIT_C267	[A pharmacological agent that prevents nausea and/or vomiting.]
Tinisulpride	NCIT_C74451
Glucocorticoid Resistance	NCIT_C126809	[An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare.]
ROBO4 wt Allele	NCIT_C74445	[Human ROBO4 wild-type allele is located in the vicinity of 11q24.2 and is approximately 14 kb in length. This allele, which encodes roundabout homolog 4 protein, is involved in the modulation of both angiogenesis and vascular patterning. Aberrant expression of the gene may be associated with tumor angiogenesis.]
ROBO4 Gene	NCIT_C74444	[This gene plays a role in blood vessel development and maturation.]
Hyporeninenmic Hypoaldosteronism	NCIT_C126816	[Hypoaldosteronism characterized by hyperkalemia and inappropriately low renin activity. This condition may be caused by a primary renal disorder, drugs or autoimmune processes.]
Hypoaldosteronemia	NCIT_C113206	[Abnormally low levels of aldosterone in the blood.]
Roundabout Homolog 4	NCIT_C74446	[Roundabout homolog 4 (1007 aa, ~107 kDa) is encoded by the human ROBO4 gene. This protein plays a role in angiogenesis and blood vessel branching.]
Hyperreninemic Hypoaldosteronism	NCIT_C126817	[Hypoaldosteronism characterized by impaired secretion of aldosterone, despite increased renin activity. This condition may be caused by chronic or critical illness, aldosterone synthase deficiency or other genetic conditions.]
NOD2 Gene	NCIT_C74447	[This gene is involved in immune responses and cell death.]
KIT NM_000222.2:c.2447A>T	NCIT_C126818	[A nucleotide substitution at position 2447 of the coding sequence of the KIT gene where adenine has been mutated to thymine.]
KIT Exon 17 Mutation	NCIT_C116396	[A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.]
Non-synonymous KIT Gene Mutation	NCIT_C136635	[A point mutation in the KIT gene that encodes an amino acid substitution in the mast/stem cell growth factor receptor Kit protein.]
KIT NP_000213.1:p.D816V	NCIT_C126820	[A change in the amino acid residue at position 816 in the mast/stem cell growth factor receptor Kit protein where asparagine has been replaced by valine.]
NOD2 wt Allele	NCIT_C74448	[Human NOD2 wild-type allele is located in the vicinity of 16q21 and is approximately 36 kb in length. This allele, which encodes nucleotide-binding oligomerization domain-containing protein 2, plays a role in the modulation of both cell death and immune response. Mutation of the gene is associated with Blau syndrome, Crohn disease, ulcerative colitis, and early-onset sarcoidosis.]
16q21	NCIT_C28527	[A chromosome band present on 16q]
KIT Protein Variant	NCIT_C126819	[A variation in the amino acid sequence for the mast/stem cell growth factor receptor Kit protein.]