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ONTOLOGY REPORT - ANNOTATIONS


Term:sepiapterin reductase deficiency
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Accession:DOID:0111168 term browser browse the term
Definition:A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. (DO)
Synonyms:exact_synonym: DRD due to SRD;   SPR deficiency;   SRD;   dopa-responsive dystonia due to sepiapterin reductase deficiency
 primary_id: MESH:C562657
 alt_id: OMIM:612716;   RDO:0012274
 xref: GARD:10365;   ORDO:70594
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sepiapterin reductase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spr sepiapterin reductase JBrowse link 4 116,912,343 116,916,073 RGD:7240710
RGD:8554872
RGD:11554173

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Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          sepiapterin reductase deficiency 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            movement disease 1000
              Dyskinesias 710
                dystonia 81
                  sepiapterin reductase deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.