| Metadata | |
|---|---|
| ID | 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 autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34. https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency, https://www.omim.org/entry/223360 |
| Xrefs |
SNOMEDCT_US_2023_03_01:237923004 |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital dopamine beta-hydroxylase deficiency [EXACT] noradrenaline deficiency [EXACT] norepinephrine deficiency [EXACT] |
| Parent Relationships |