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Disease Ontology Browser
dopamine beta-hydroxylase deficiency (DOID:0090145)
Alliance: disease page
Synonyms: congenital dopamine beta-hydroxylase deficiency; noradrenaline deficiency; norepinephrine deficiency
Alt IDs: OMIM:223360, MESH:C535600, ORDO:230, UMLS_CUI:C0342687
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/05/2024
MGI 6.24 		The Jackson Laboratory