Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Langer Mesomelic Dysplasia	NCIT_C126876	[An autosomal recessive condition caused by mutation (s) in the SHOX gene, encoding short stature homeobox protein. The condition is characterized by shortening of the bones of the middle segments of the limbs.]
Mesomelic Dysplasia	NCIT_C121156	[A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).]
SHOX Gene	NCIT_C75403	[This gene is involved in transcription and growth.]
Epidermodysplasia Verruciformis	NCIT_C126877	[An extremely rare skin disorder usually inherited in an autosomal recessive pattern and caused by mutation(s) in the TMC6 or TMC8 gene, encoding transmembrane channel-like protein 6 and transmembrane channel-like protein 8, respectively. It is characterized by chronic human papillomavirus infection. Patients develop papillomatous wart-like lesions and pigmented plaques on the skin. It predisposes to cutaneous carcinomas, especially in situ and invasive squamous cell carcinomas.]
Cutaneous Precancerous Condition	NCIT_C8957
Congenital Disorder of Glycosylation Type Id	NCIT_C126870	[A congenital disorder of glycosylation sub-type caused by mutation(s) in the ALG3 gene, encoding dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase.]
Congenital Disorder of Glycosylation Type Ie	NCIT_C126871	[A congenital disorder of glycosylation sub-type caused by mutation(s) in the DPM1 gene, encoding dolichol-phosphate mannosyltransferase subunit 1.]
Congenital Disorder of Glycosylation Type If	NCIT_C126872	[A congenital disorder of glycosylation sub-type caused by mutation(s) in the MPDU1 gene, encoding mannose-P-dolichol utilization defect 1 protein.]
Congenital Disorder of Glycosylation Type Ig	NCIT_C126873	[A congenital disorder of glycosylation sub-type caused by mutation(s) in the ALG12 gene, dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase.]
Psychosocial Care	NCIT_C126880	[The act of providing psychological assistance or support to an individual based on their needs.]
Day Times Nanogram Per Milliliter Per Kilogram	NCIT_C112259	[Days times nanograms per milliliter, divided by kilograms.]
Day Times Millimole Per Liter Per Kilogram	NCIT_C112255	[Days times millimoles per liter, divided by kilograms.]
Day Times Mole Per Liter Per Gram	NCIT_C112256	[Days times moles per liter, divided by grams.]
Day Times Mole Per Liter Per Kilogram	NCIT_C112257	[Days times moles per liter, divided by kilograms.]
Day Times Nanogram Per Milliliter Per Gram	NCIT_C112258	[Days times nanograms per milliliter, divided by grams.]
PLPP1 wt Allele	NCIT_C49416	[Human PLPP1 wild-type allele is located in the vicinity of 5q11.2 and is approximately 111 kb in length. This allele, which encodes phospholipid phosphatase 1 protein, is involved in the dephosphorylation of exogenous bioactive glycerolipids and sphingolipids.]
PLPP1 Gene	NCIT_C24688	[This gene is involved in lipid metabolism/transport and receptor-activated signal transduction.]
Day Times Micromole Per Liter Per Kilogram	NCIT_C112251	[Days times micromoles per liter, divided by kilograms.]
DUSP1 wt Allele	NCIT_C49417	[Human DUSP1 wild-type allele is located within 5q34 and is approximately 3 kb in length. This allele, which encodes dual specificity protein phosphatase 1 protein, is involved in the dephosphorylation of both protein tyrosine phosphates and phosphoproteins. Decreased expression of the DUSP1 gene is associated with ovarian cancer.]
DUSP1 Gene	NCIT_C24355	[This gene is a transcriptional target of TP53 protein and plays a role in cell cycle regulation.]