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Pathways
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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).
Term:dopa responsive dystonia pathway
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Accession:PW:0002105 term browser browse the term
Definition:A condition resulting from alterations in the metabolism of tetrahydrobiopterin (BH4), an essential cofactor for the activity of many enzymes. Diet and supplements, such as administration of L-Dopa, may diminish the outcomes of the condition.
Synonyms:exact_synonym: dopa responsive dystonia disease pathway
 related_synonym: SMP:00486


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dopa responsive dystonia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1B1 aldo-keto reductase family 1 member B EXP SMPDB SMP:00486 NCBI chr 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284 		JBrowse link
G CBR1 carbonyl reductase 1 EXP SMPDB SMP:00486 NCBI chr21:36,070,024...36,073,164
Ensembl chr21:36,069,941...36,073,166 		JBrowse link
G DHFR dihydrofolate reductase EXP SMPDB SMP:00486 NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983 		JBrowse link
G GCH1 GTP cyclohydrolase 1 EXP SMPDB SMP:00486 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GCHFR GTP cyclohydrolase I feedback regulator EXP SMPDB SMP:00486 NCBI chr15:40,764,068...40,767,708
Ensembl chr15:40,764,068...40,767,708 		JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase EXP SMPDB SMP:00486 NCBI chr11:112,226,428...112,233,973
Ensembl chr11:112,226,367...112,269,955 		JBrowse link
G QDPR quinoid dihydropteridine reductase EXP SMPDB SMP:00486 NCBI chr 4:17,486,395...17,512,090
Ensembl chr 4:17,460,261...17,512,206 		JBrowse link
G SPR sepiapterin reductase EXP SMPDB SMP:00486 NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 5956
    disease pathway 2076
      nervous system disease pathway 768
        movement disorder pathway 82
          dystonia pathway 8
            dopa responsive dystonia pathway 8
paths to the root