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ONTOLOGY REPORT - ANNOTATIONS


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
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dopamine beta-hydroxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dbh dopamine beta-hydroxylase JBrowse link 3 5,709,236 5,731,895 RGD:7240710
RGD:8554872
G Hspa5 heat shock protein family A (Hsp70) member 5 JBrowse link 3 13,838,304 13,842,763 RGD:5685690

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    Nutritional and Metabolic Diseases 4634
      disease of metabolism 4634
        inherited metabolic disorder 2177
          dopamine beta-hydroxylase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        central nervous system disease 8856
          brain disease 8144
            disease of mental health 5768
              cognitive disorder 1896
                anxiety disorder 161
                  neurocirculatory asthenia 11
                    Orthostatic Intolerance 11
                      Orthostatic Hypotension 9
                        dopamine beta-hydroxylase deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.