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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: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
For additional species annotation, visit the Alliance of Genome Resources.

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sepiapterin reductase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spr sepiapterin reductase ISO ClinVar Annotator: match by OMIM:612716
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sepiapterin reductase deficiency
ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency
PMID:9700606, PMID:10384371, PMID:11443547, PMID:15241655, PMID:16049044, PMID:16650784, PMID:16752391, PMID:16917893, PMID:17159114, PMID:18414213, PMID:18502672, PMID:19491146, PMID:21431957, PMID:21677200, PMID:22522443, PMID:23430877, PMID:24212389, PMID:25526675, PMID:25741868, PMID:28492532 NCBI chr 4:116,912,343...116,916,073
Ensembl chr 4:116,912,351...116,916,236
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          sepiapterin reductase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            movement disease 1158
              Dyskinesias 869
                dystonia 162
                  sepiapterin reductase deficiency 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.