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congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

^ http://purl.obolibrary.org/obo/MONDO_0008729

Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females. [ Orphanet:90795 ]

Term info

database cross reference
  • NCIT:C131085 (MONDO:equivalentTo)
  • SCTID:124214007 (MONDO:equivalentTo)
  • MedDRA:10000002 (Orphanet:90795/e)
  • OMIM:202010 (Orphanet:90795/e)
  • ICD9:277.6 (MONDO:relatedTo)
  • MESH:C535978 (Orphanet:90795/e)
  • UMLS:C0268292 (Orphanet:90795/e)
  • GARD:0005658 (MONDO:equivalentTo)
  • Orphanet:90795 (OMIM:202010)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069, https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10000002

definition

Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0268292, http://identifiers.org/mesh/C535978, http://purl.obolibrary.org/obo/NCIT_C131085, http://identifiers.org/snomedct/124214007, https://omim.org/entry/202010, http://purl.obolibrary.org/obo/Orphanet_90795

has exact synonym

CYP11B1 deficiency, CAH due to 11-beta-hydroxylase deficiency, adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency

has related synonym

adrenal hyperplasia 4, steroid 11-Beta-Hydroxylase deficiency, adrenal hyperplasia hypertensive form, adrenal hyperplasia, hypertensive form, adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency, adrenal hyperplasia IV, P450C11B1 deficiency, 11-Beta-Hydroxylase deficiency

id

MONDO:0008729