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
- 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