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congenital lipoid adrenal hyperplasia due to STAR deficency

^ http://purl.obolibrary.org/obo/MONDO_0008725

Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. [ Orphanet:90790 ]

Term info

database cross reference
  • OMIM:201710 (Orphanet:90790/e)
  • SCTID:44231009 (MONDO:equivalentTo)
  • GARD:0001465 (MONDO:equivalentTo)
  • UMLS:C0342474 (Orphanet:90790/e)
  • Orphanet:90790 (OMIM:201710)
Subsets

ordo_disease

abbreviation
CLAH [ Orphanet:90790 ]

abbreviation
LCAH [ OMIM:201710 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.

exactMatch

https://omim.org/entry/201710, http://purl.obolibrary.org/obo/Orphanet_90790, http://linkedlifedata.com/resource/umls/id/C0342474, http://identifiers.org/snomedct/44231009

has exact synonym

lipoid adrenal hyperplasia, CLAH

has related synonym

lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism, congenital adrenal hyperplasia lipoid, lipoid congenital adrenal hyperplasia, adrenal hyperplasia 1, LCAH

id

MONDO:0008725