Niemann-Pick Disease, Type C2

Preferred Label : Niemann-Pick Disease, Type C2;

NCIt synonyms : Type C2 Niemann-Pick Disease;

NCIt definition : Type C Niemann-Pick disease associated with a mutation in the gene NPC2, encoding Niemann-Pick C2 protein.;

Details

Origin ID

C126865;

UMLS CUI

C1843366;

Currated CISMeF NLP mapping
- Niemann Pick disease type C2 [Disease (Nov.)]
- Niemann-Pick disease type C2 [DO Concept]
- Niemann-Pick disease, type C2 [MeSH concept]
- Niemann-Pick disease, type C2 [MeSH Supplementary Concept]
- Niemann-pick disease, type c2 [OMIM Phenotype]
See also inter- (CISMeF)
- NPC intracellular cholesterol transporter 2 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NPC intracellular cholesterol transporter 2 [ORDO Gene]
- Niemann Pick disease type C2 [Disease (Nov.)]
- Niemann-Pick disease type C2 [DO Concept]
- Niemann-Pick disease, type C2 [MeSH Supplementary Concept]
- Niemann-Pick disease, type C2 [MeSH concept]
- Niemann-pick disease, type c2 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NPC1 Gene [NCIt concept]
- NPC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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