dopamine beta-hydroxylase deficiency

dopamine beta-hydroxylase deficiency

http://purl.obolibrary.org/obo/DOID_0090145

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. [ url:https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency url:https://www.omim.org/entry/223360 http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007637 ]

Synonyms: norepinephrine deficiency congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency

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database cross reference

GARD:1903
SNOMEDCT_US_2023_03_01:237923004
MIM:223360
UMLS_CUI:C0342687
MESH:C535600
ORDO:230

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disease_ontology

DOID:0090145

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Subclass of:

nervous system disease
inherited metabolic disorder
disease has basis in some structural_variant
disease has location some nervous system
has symptom some ptosis