Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/C535600 http://purl.bioontology.org/ontology/MESH/C535600
Preferred Name	dopamine beta hydroxylase deficiency
Synonyms	dopamine b-hydroxylase dopamine beta-hydroxylase deficiency Noradrenaline deficiency Norepinephrine deficiency Congenital dopamine beta hydroxylase deficiency Dopamine beta Hydroxylase Deficiency, Congenital
Type	http://www.w3.org/2002/07/owl#Class

altLabel	dopamine b-hydroxylase dopamine beta-hydroxylase deficiency Noradrenaline deficiency Norepinephrine deficiency Congenital dopamine beta hydroxylase deficiency Dopamine beta Hydroxylase Deficiency, Congenital See more See less
prefLabel	dopamine beta hydroxylase deficiency
Scope Statement	A congenital syndrome caused by mutations in the dopamine beta-hydroxylase (DBH) gene. It is characterized by ORTHOSTATIC HYPOTENSION; frequent SYNCOPE especially following exercies, BLEPHAROPTOSIS; and delayed eye opening in affected neonates. Norepinephrine is greatly reduced in body fluids while dopamine is greatly increased. OMIM: 223360
type	http://www.w3.org/2002/07/owl#Class
tui	T047
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
HM	D001342 D004299/Q000172 D009638/Q000172
SC	3
TERMUI	T736640 T844524 T844514 T736643 T844513 T844523 T759708 See more See less
TH	OMIM (2013) GHR (2014) NLM (2014) ORD (2010)
MMR	20160929
notation	C535600
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
cui	C0342687
MeSH Frequency	20
DSC	20100825
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D009638 http://purl.bioontology.org/ontology/MESH/D004299 http://purl.bioontology.org/ontology/MESH/D001342
MDA	20100825

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