JSON

corticosterone methyloxidase type 1 deficiency

^ http://purl.obolibrary.org/obo/MONDO_0008751

Term info

database cross reference
  • GARD:0005660 (MONDO:equivalentTo)
  • OMIM:203400 (MONDO:equivalentTo)
  • UMLS:CN074214 (MONDO:ncbi_mim2gene_medline)
  • SCTID:47757001 (MONDO:equivalentTo)
  • DOID:0080626 (MONDO:equivalentTo)
Subsets

gard_rare

IAO 0000233

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

exactMatch

http://linkedlifedata.com/resource/umls/id/CN074214, https://omim.org/entry/203400, http://purl.obolibrary.org/obo/DOID_0080626, http://identifiers.org/snomedct/47757001

has exact synonym

corticosterone methyloxidase type 1 deficiency, hypoaldosteronism, congenital, due to cmo i deficiency, corticosterone 18-monooxygenase deficiency

has related synonym

18-hydroxylase deficiency, CMO 1 deficiency, CMO I deficiency, corticosterone methyl oxidase type II deficiency, aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency, 18-hydroxycorticosterone dehydrogenase deficiency, corticosterone methyloxidase type I deficiency, hyperreninemic hypoaldosteronism, familial, 1, CAH - 18-hydroxylase deficiency, 18 Hydroxylase deficiency, CMO II deficiency, 18 alpha hydroxylase deficiency, 18-Hydroxylase deficiency, aldosterone deficiency due to defect in steroid 18-Hydroxylase, aldosterone deficiency due to 18-hydroxylase defect, aldosterone deficiency due to defect in 18 hydroxylase, aldosterone deficiency 1, steroid 18-hydroxylase deficiency, corticosterone methyl oxidase type I deficiency

id

MONDO:0008751

seeAlso

https://rarediseases.info.nih.gov/diseases/5660/18-hydroxylase-deficiency