_:vb50942338 . . "ORDO:230"^^ . _:vb50942338 . "GARD:1903"^^ . "congenital dopamine beta-hydroxylase deficiency"@en . "disease_ontology"^^ . "MESH:C535600"^^ . . "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."^^ . _:vb50942337 . _:vb50942338 . "norepinephrine deficiency"@en . _:vb50942337 . _:vb50942336 . "dopamine beta-hydroxylase deficiency"^^ . _:vb50942337 . "DOID:0090145"^^ . . _:vb50942336 . "UMLS_CUI:C0342687"^^ . "OMIM:223360"^^ . _:vb50942336 . "SNOMEDCT_US_2021_09_01:237923004"^^ . _:vb50942337 . _:vb50942337 . _:vb50942336 . _:vb50942338 . . _:vb50942336 . "noradrenaline deficiency"@en . _:vb50942338 .