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ONTOLOGY REPORT - ANNOTATIONS


Term:PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER
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Accession:DOID:9001854 term browser browse the term
Definition:An autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. (OMIM)
Synonyms:exact_synonym: PFCRD
 primary_id: OMIMM:616154;   RDO:9001518
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PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Far1 fatty acyl CoA reductase 1 JBrowse link 1 178,351,674 178,412,838 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        lipid metabolism disorder 740
          PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          inherited metabolic disorder 1884
            lipid metabolism disorder 740
              PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.