Summary Literature (0)

DOID:0090145 - dopamine beta-hydroxylase deficiency

Disease Ontology Definition: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.

Synonyms: congenital dopamine beta-hydroxylase deficiency, noradrenaline deficiency, norepinephrine deficiency

Xenbase Genes : dbh

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009123 - orthostatic hypotension 1

MIM:

MIM:223360 - ORTHOSTATIC HYPOTENSION 1; ORTHYP1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee