Steroidogenic Acute Regulatory Protein Deficiency

Preferred Label : Steroidogenic Acute Regulatory Protein Deficiency;

NCIt related terms : StAR Deficiency;

Alternative definition : NICHD: Congenital lipoid adrenal hyperplasia (CLAH) due to loss-of-function mutations in the STAR gene, resulting in decreased or absent production of steroidogenic acute regulatory protein (StAR), which leads to deficient transport of cholesterol from the outer to the inner mitochondrial membrane.;

NCI Metathesaurus CUI : CL514002;

Details

Origin ID

C131081;

UMLS CUI

C4331349;

Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
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- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
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- STAR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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