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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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
 xref: GARD:1903;   MESH:C535600;   MIM:223360;   MONDO:0009123;   ORDO:230


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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
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:223360
ClinVar Annotator: match by term: Orthostatic hypotension 1 		OMIM
CTD
MouseDO
ClinVar		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chr 3:30,886,313...30,903,313
Ensembl chr 3:30,886,328...30,903,316 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:38,453,041...38,458,790 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        inherited metabolic disorder 3387
          dopamine beta-hydroxylase deficiency 2
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            disease of mental health 3944
              cognitive disorder 1355
                anxiety disorder 189
                  neurocirculatory asthenia 11
                    Orthostatic Intolerance 11
                      Orthostatic Hypotension 9
                        dopamine beta-hydroxylase deficiency 2
paths to the root