Term Name:	dopamine beta-hydroxylase deficiency
Synonyms:	congenital dopamine beta-hydroxylase deficiency, noradrenaline deficiency, norepinephrine deficiency
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.
Ontology:	Human Disease [DOID:0090145]   ( DOID:0090145 )