JSON

familial hypoaldosteronism

^ http://purl.obolibrary.org/obo/MONDO_0018541

Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). [ Orphanet:427 ]

Term info

database cross reference
  • UMLS:CN205074 (MONDO:equivalentTo)
  • SCTID:715343000 (MONDO:equivalentTo)
  • Orphanet:427 (MONDO:equivalentTo)
  • UMLS:C4275180 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).

exactMatch

http://linkedlifedata.com/resource/umls/id/C4275180, http://linkedlifedata.com/resource/umls/id/CN205074, http://identifiers.org/snomedct/715343000, http://purl.obolibrary.org/obo/Orphanet_427

id

MONDO:0018541

Term relations