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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:Refsum disease pathway
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Accession:PW:0001705 term browser browse the term
Definition:An autosomal recessive disorder due to alterations in peroxisomal metabolic pathways manifesting in hearing loss and impaired vision.
Synonyms:exact_synonym: HMSN type IV pathway;   HSMN IV pathway;   Heredopathia atactica polyneuritiformis pathway;   Refsum's disease pathway
 related_synonym: SMP:00451

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Refsum disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00451 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274 		JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00451 NCBI chr 7:132,294,564...132,343,169
Ensembl chr 7:132,294,562...132,343,169 		JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO SMPDB SMP:00451 NCBI chr10:47,525,486...47,546,535
Ensembl chr10:47,525,493...47,546,345 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO SMPDB SMP:00451 NCBI chr16:7,720,047...7,758,119
Ensembl chr16:7,714,465...7,758,189 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO SMPDB SMP:00451 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530 		JBrowse link
G Slc27a2 solute carrier family 27 member 2 ISO SMPDB SMP:00451 NCBI chr 3:119,014,620...119,052,531
Ensembl chr 3:119,014,620...119,052,531 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      nervous system disease pathway 761
        brain disease pathway 350
          inborn error of brain metabolic pathway 319
            Refsum disease pathway 6
Path 2
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      nutritional and metabolic disease pathway 709
        metabolic disease pathway 666
          inborn error of metabolism pathway 529
            inborn error of brain metabolic pathway 319
              Refsum disease pathway 6
paths to the root