Terminology Service for NFDI4Health
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Cholesterol Side-Chain Cleavage Deficiency

Go to external page http://purl.obolibrary.org/obo/NCIT_C131422

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. [ ]

Term info

Label

Cholesterol Side-Chain Cleavage Deficiency

Synonyms
  • Cholesterol Side-Chain Cleavage Deficiency
  • P450scc Deficiency
Subsets

NCIT_C90259, NCIT_C118467

ALT DEFINITION

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.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C34816

NICHD Hierarchy Term

Cholesterol Side-Chain Cleavage Deficiency

Preferred Name

Cholesterol Side-Chain Cleavage Deficiency

Semantic Type

Disease or Syndrome

UMLS CUI

C3151055

code

C131422