About: dopamine beta-hydroxylase deficiency

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	inherited metabolic disorder nervous system disease nodeID://b50942336 nodeID://b50942337 nodeID://b50942338
label	dopamine beta-hydroxylase deficiency
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090145
database_cross_reference	GARD:1903 MESH:C535600 OMIM:223360 ORDO:230 SNOMEDCT_US_2021_09_01:237923004 UMLS_CUI:C0342687
has_exact_synonym	congenital dopamine beta-hydroxylase deficiency (en) noradrenaline deficiency (en) norepinephrine deficiency (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942339

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