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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:dopamine beta-hydroxylase deficiency
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Accession:DOID:0090145 term browser browse the term
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. (DO)
Synonyms:exact_synonym: ORTHYP1;   congenital dopamine beta hydroxylase deficiency;   dopamine b-hydroxylase;   noradrenaline deficiency;   norepinephrine deficiency;   orthostatic hypotension 1
 primary_id: MESH:C535600
 alt_id: OMIM:223360
 xref: GARD:1903;   ORDO:230
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
dopamine beta-hydroxylase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Orthostatic hypotension 1
ClinVar Annotator: match by term: Dopamine beta hydroxylase deficiency
ClinVar Annotator: match by OMIM:223360
PMID:11857564 PMID:14598346 PMID:15060114 PMID:16199547 PMID:21209083 PMID:21471955 PMID:22028891 PMID:24033266 PMID:25450229 PMID:25741868 PMID:26762739 PMID:27778639 PMID:28492532 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        inherited metabolic disorder 2606
          dopamine beta-hydroxylase deficiency 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              cognitive disorder 1946
                anxiety disorder 166
                  neurocirculatory asthenia 11
                    Orthostatic Intolerance 11
                      Orthostatic Hypotension 9
                        dopamine beta-hydroxylase deficiency 2
paths to the root