Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Joubert Syndrome	NCIT_C74996	[A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.]
Joubert Syndrome Type 4	NCIT_C74997	[A rare genetic syndrome caused by mutations in the NPHP1 gene. It is characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.]
NPHP1 Gene	NCIT_C75861	[This gene is involved in the mediation of signal transduction.]
Familial Juvenile Nephronophthisis	NCIT_C74998	[Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.]
Gravity	NCIT_C74992
Milligram per Gram per Day	NCIT_C74993	[A dose calculation unit expressed in milligram(s) per gram per period of time equal to twenty-four hours.]
Retired Concept 2012	NCIT_C104171
Rat Benign Thecoma	NCIT_C60360
Mowat-Wilson Syndrome	NCIT_C74999	[A rare autosomal dominant syndrome caused by mutations in the ZEB2 gene. It is characterized by mental retardation, and a distinctive facial appearance (wide set eyes, uplifted earlobes, broad nasal bridge, prominent chin, and a smiling expression). The majority of patients have Hirschsprung disease (colonic enlargement and constipation due to intestinal blockage).]
ZEB2 Gene	NCIT_C75441	[This gene is involved in regulation of transcription.]
Guppy Ovarian Cancer 2002 Oncology Response Criteria	NCIT_C126010
Tumor Response Criterion	NCIT_C125932	[A standard from which a judgment concerning tumor response to therapy can be established.]
Silent Myocardial Infarction	NCIT_C35400	[A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings.]
Hamaoka Breast Cancer 2010 Oncology Response Criteria	NCIT_C126011
Arterial Injury	NCIT_C35401	[Damage to an artery from traumatic or pathologic processes.]
IWG Cheson MDS 2000 Oncology Response Criteria	NCIT_C126016
IWG Cheson MDS 2006 Oncology Response Criteria	NCIT_C126017
Jacinto Cervical Cancer 2007 Oncology Response Criteria	NCIT_C126018
Japanese Classification Gastric Cancer 2011 Oncology Response Criteria	NCIT_C126019
Hartmann Germ Cell Cancer 2002 Oncology Response Criteria	NCIT_C126012