Cholesterol Side-Chain Cleavage Deficiency

Preferred Label : Cholesterol Side-Chain Cleavage Deficiency;

NCIt related terms : P450scc Deficiency;

Alternative definition : NICHD: CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis.;

Details

Origin ID

C131422;

UMLS CUI

C3151055;

Automatic exact mappings (from CISMeF team)
- Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete [OMIM Phenotype]
- congenital adrenal insufficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- CYP11A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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