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Metadata
DOID DOID:0090145
Name dopamine beta-hydroxylase 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 homozygous or compound heterozygous mutation in the DBH gene on chromosome 9q34.
Synonyms

congenital dopamine beta-hydroxylase deficiency [EXACT]

noradrenaline deficiency [EXACT]

norepinephrine deficiency [EXACT]

Xrefs

GARD:1903

MESH:C535600

OMIM:223360

ORDO:230

UMLS_CUI:C0342687

Relationships

is_a inherited metabolic disorder

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