Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	NCIT_C126745	[Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.]
Emery-Dreifuss Muscular Dystrophy	NCIT_C84685	[An X-linked or autosomal dominant inherited muscular dystrophy. It is characterized by slowly progressive muscle weakness, atrial conduction defects, cardiomyopathy, and early contractures of the elbow, ankle and neck.]
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 3	NCIT_C126740	[An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.]
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4	NCIT_C126741	[An autosomal recessive muscular dystrophy caused by mutations in the gene encoding fukutin (FKTN). It is associated with characteristic brain and eye malformations, seizures, and mental retardation.]
Pleural Mesothelioma pN2 TNM Finding v7	NCIT_C88910	[Pleural mesothelioma with metastases in the subcarinal or the ipsilateral mediastinal lymph nodes including the ipsilateral internal mammary and peridiaphragmatic nodes. (from AJCC 7th Ed.)]
Pleural Mesothelioma Pathologic Regional Lymph Nodes TNM Finding v7	NCIT_C88906	[A pathologic finding about one or more characteristics of pleural mesothelioma, following the rules of the TNM classification system as they pertain to staging of regional lymph nodes.]
PTGES wt Allele	NCIT_C112109	[Human PTGES wild-type allele is located in the vicinity of 9q34.3 and is approximately 15 kb in length. This allele, which encodes prostaglandin E synthase protein, may be involved in TP53 induced apoptosis.]
PTGES Gene	NCIT_C112108	[This gene may play a role in TP53 induced apoptosis.]
Pleural Mesothelioma pN3 TNM Finding v7	NCIT_C88911	[Pleural mesothelioma with metastases in the contralateral mediastinal, contralateral internal mammary, ipsilateral or contralateral supraclavicular lymph nodes. (from AJCC 7th Ed.)]
Pleural Mesothelioma Pathologic Distant Metastasis TNM Finding v7	NCIT_C88912	[A pathologic finding about one or more characteristics of pleural mesothelioma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for pleural mesothelioma.]
Pleural Mesothelioma Pathologic TNM Finding v7	NCIT_C88896	[A pathologic finding about one or more characteristics of pleural mesothelioma, following the rules of the TNM AJCC v7 classification system. The pathologic staging is based on surgical resection. (from AJCC 7th Ed.)]
Pleural Mesothelioma pM1 TNM Finding v7	NCIT_C88913	[Pleural mesothelioma with distant metastasis. (from AJCC 7th Ed.)]
KEAP1 Gene	NCIT_C112105	[This gene is involved in ubiquitin-mediated protein degradation.]
KEAP1 wt Allele	NCIT_C112106	[Human KEAP1 wild-type allele is located in the vicinity of 19p13.2 and is approximately 18 kb in length. This allele, which encodes kelch-like ECH-associated protein 1, plays a role in targeting NFE2L2/NRF2 for ubiquitin-mediated protein degradation.]
Kelch-Like ECH-Associated Protein 1	NCIT_C112107	[Kelch-like ECH-associated protein 1 (624 aa, ~70 kDa) is encoded by the human KEAP1 gene. This protein is involved in ubiquitin-mediated protein degradation.]
Prostaglandin Production	NCIT_C40654	[Prostaglandin Production consists of synthesis of compounds derived primarily from arachidonic acid (cyclooxygenase pathway) (prostaglandins) having potent regulatory effects on the activity of cells involved in host defense and inflammation.]
HTT Gene	NCIT_C88918	[This gene may be involved in vesicle transport.]
Huntington's Disease	NCIT_C82342	[A progressive hereditary neurodegenerative disorder inherited in an autosomal dominant fashion. Symptoms may appear at any age and include uncontrolled movements, clumsiness, balance problems, difficulty walking, talking, or swallowing. The disease has a progressive course with a decline in mental abilities, and the development of psychiatric problems.]
AKR1A1 Gene	NCIT_C112101	[This gene plays a role in the reduction of biogenic and xenobiotic aldehydes.]
HTT wt Allele	NCIT_C88919	[Human HTT wild-type allele is located in the vicinity of 4p16.3 and is approximately 199 kb in length. This allele, which encodes huntingtin protein, may play a role in microtubule-mediated transport or vesicle function. Genetic polymorphism of this gene is associated with Huntington disease.]