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| Term | dopamine beta-hydroxylase deficiency | ID (Ontology) | DOID:0090145 (Human Disease) |
| 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. | ||
| Also Known As | "congenital dopamine beta-hydroxylase deficiency" ; "noradrenaline deficiency" ; "norepinephrine deficiency" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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disease of metabolism |__inherited metabolic disorder__ genetic disease | |__inherited metabolic disorder__| disease of anatomical entity | |__nervous system disease________| dopamine beta-hydroxylase deficiency 1 rec. |
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inherited metabolic disorder nervous system disease |
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GARD:1903 MESH:C535600 MIM:223360 ORDO:230 SNOMEDCT_US_2023_03_01:237923004 UMLS_CUI:C0342687 |
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