Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension. [ Orphanet : 230 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C535600 (Orphanet:230/e)
  • Orphanet:230 (OMIM:223360)
  • GARD:1903 (DOID:0090145)
  • GARD:0001903 (MONDO:equivalentTo)
  • SCTID:237923004 (MONDO:equivalentTo)
  • UMLS:C0342687 (Orphanet:230/e)
  • DOID:0090145 (MONDO:equivalentTo)
  • OMIM:223360 (Orphanet:230/e)
  • ICD10CM:G90.8 (Orphanet:230/ntbt)
  • ICD9:270.8 (MONDO:relatedTo)
Subsets

gard_rare, ordo_disease

definition
  • Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.
exactMatch
  • http://www.orpha.net/ORDO/Orphanet_230
  • http://identifiers.org/mesh/C535600
  • http://purl.obolibrary.org/obo/DOID_0090145
  • http://identifiers.org/snomedct/237923004
  • http://linkedlifedata.com/resource/umls/id/C0342687
  • https://omim.org/entry/223360
has exact synonym
  • congenital dopamine beta-hydroxylase deficiency
  • norepinephrine deficiency
  • orthostatic hypotension 1, due to DBH deficiency
  • dopamine beta-hydroxylase deficiency
  • noradrenaline deficiency
has related synonym
  • dopamine beta hydroxylase deficiency
  • dopamine BETA-HYDROXYLASE deficiency, congenital
id
  • MONDO:0009123
narrowMatch
  • http://apps.who.int/classifications/icd10/browse/2010/en#/G90.8
seeAlso
  • https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency
  • https://github.com/monarch-initiative/mondo/issues/4521