Familial Glucocorticoid Deficiency Type 2

Preferred Label : Familial Glucocorticoid Deficiency Type 2;

NCIt synonyms : Familial Glucocorticoid Deficiency Type 1;

NCIt related terms : GCCD2; Melanocortin-2 Receptor Accessory Protein Defect;

NCIt definition : Familial glucocorticoid deficiency caused by mutation(s) in the MRAP gene encoding the melanocortin-2 receptor accessory protein.;

Alternative definition : NICHD: A subtype of familial glucocorticoid deficiency caused by mutation(s) in the MRAP gene encoding the melanocortin-2 receptor accessory protein.;

Details

Origin ID

C123728;

UMLS CUI

C4049714;

Automatic exact mappings (from CISMeF team)
- Glucocorticoid deficiency 2 [OMIM Phenotype]
- Glucocorticoid deficiency 3 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glucocorticoid deficiency 2 [OMIM Phenotype]
- familial glucocorticoid deficiency type 2 [Disease (Nov.)]
- glucocorticoid deficiency 2 [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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