Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Congenital Ectopic Lens	NCIT_C34566	[Displacement of the lens of the eye secondary to defective zonule formation that is present at the time of birth.]
Ectopia Lentis	NCIT_C125484	[Partial or complete displacement of the crystalline lens from its normal position in the eye.]
TNFRSF21 wt Allele	NCIT_C105570	[Human TNFRSF21 wild-type allele is located in the vicinity of 6p21.1 and is approximately 78 kb in length. This allele, which encodes tumor necrosis factor receptor superfamily member 21 protein, is involved in the induction of apoptosis and may be involved in both inflammation and immune regulation.]
TNFRSF21 Gene	NCIT_C105569	[This gene plays a role in the induction of apoptosis.]
6p21.1	NCIT_C13777	[A chromosome band present on 6p]
Tumor Necrosis Factor Receptor Superfamily Member 21	NCIT_C105571	[Tumor necrosis factor receptor superfamily member 21 (655 aa, ~72 kDa) is encoded by the human TNFRSF21 gene. This protein plays a role in the induction of apoptosis and may play a role in T-helper cell activation.]
TNF Receptor Family Protein	NCIT_C19285	[Members of the tumor necrosis factor receptor (TNFR) family play a key role in regulating the immune response to infection. They are cell-surface proteins that interact with a corresponding TNF-related ligand family. The receptors share homology in the extracellular domain, which contains 3 to 6 cysteine-rich pseudorepeats, but are generally not related in their cytoplasmic regions. However, the intracellular domains (ICDs) of TNFR family members TNFR1 and FAS/APO1/CD95, which can activate apoptotic cell death, do have a region of homology in an oligomerization interface known as the death domain. (from OMIM 603366)]
Ehlers-Danlos Syndrome	NCIT_C34568	[An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility.]
COL1A1 Associated Connective Tissue Disorder	NCIT_C75471	[A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis.]
Elephantiasis	NCIT_C34569	[Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph.]
Swelling	NCIT_C3399	[Enlargement; expansion in size; sign of inflammation]
UGT1A6 wt Allele	NCIT_C105573	[Human UGT1A6 wild-type allele is located in the vicinity of 2q37 and is approximately 82 kb in length. This allele, which encodes UDP-glucuronosyltransferase 1-6 protein, plays a role in both the conjugation and excretion of phenols.]
Endocervical Polyp	NCIT_C34584	[A polyp that arises from the endocervix. It is characterized by the presence of endocervical glands and a fibrovascular stroma.]
TSC22D3 Gene	NCIT_C105563	[This gene plays a role in the function of both T-cells and macrophages.]
Endomyocardial Fibrosis	NCIT_C34585	[A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.]
TSC22D3 wt Allele	NCIT_C105564	[Human TSC22D3 wild-type allele is located in the vicinity of Xq22.3 and is approximately 64 kb in length. This allele, which encodes TSC22 domain family protein 3, is involved in both the transcriptional regulation of apoptotic genes and immunosuppression.]
Endophthalmitis	NCIT_C34586	[An infectious process affecting the internal structures of the eye.]
Intraocular Infection	NCIT_C50617	[Infection within the eye.]
TSC22 Domain Family Protein 3	NCIT_C105565	[TSC22 domain family protein 3 (134 aa, ~15 kDa) is encoded by the human TSC22D3 gene. This protein plays a role in both apoptosis in T-cells and immunosuppression in macrophages.]
Parasitic Endophthalmitis	NCIT_C34587	[Infection of the interior of the eye, especially the aqueous and/or vitreous humor, by a parasite.]