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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: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
 xref: GARD:10365;   MESH:C562657;   MIM:612716;   MONDO:0012994;   ORDO:70594


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency | ClinVar Annotator: match by term: SPR deficiency 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:9700606 PMID:10384371 PMID:11443547 PMID:15241655 More... NCBI chr 4:119,229,447...119,233,320
Ensembl chr 4:119,229,447...119,233,179 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          sepiapterin reductase deficiency 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            movement disease 2631
              Dyskinesias 2229
                dystonia 501
                  sepiapterin reductase deficiency 1
paths to the root