JSON

dopamine beta-hydroxylase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0009123

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
  • DOID:0090145 (MONDO:equivalentTo)
  • GARD:0001903 (MONDO:equivalentTo)
  • ICD10:G90.8 (Orphanet:230)
  • GARD:1903 (DOID:0090145)
  • OMIM:223360 (Orphanet:230)
  • UMLS:C0342687 (Orphanet:230)
  • SCTID:237923004 (MONDO:equivalentTo)
  • Orphanet:230 (OMIM:223360)
  • MESH:C535600 (Orphanet:230)
  • ICD9:270.8 (i2s)
Subsets

gard_rare, ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C1857209

definition

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

exactMatch

http://identifiers.org/mesh/C535600

http://identifiers.org/snomedct/237923004

http://linkedlifedata.com/resource/umls/id/C0342687

http://www.orpha.net/ORDO/Orphanet_230

http://purl.obolibrary.org/obo/DOID_0090145

http://identifiers.org/omim/223360

has exact synonym

congenital dopamine beta-hydroxylase deficiency

norepinephrine deficiency

noradrenaline deficiency

has related synonym

dopamine BETA-HYDROXYLASE deficiency, congenital

dopamine beta hydroxylase deficiency

id

MONDO:0009123

seeAlso

https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency