ONTOLOGY REPORT - ANNOTATIONS


Term:Pearson syndrome
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Accession:DOID:0060067 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. (DO)
Synonyms:exact_synonym: Pearson marrow-pancreas syndrome
 primary_id: OMIM:557000
 alt_id: RDO:9003903
 xref: GARD:7343
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Pearson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadvl acyl-CoA dehydrogenase, very long chain JBrowse link 10 56,619,321 56,624,468 RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      Pearson syndrome 1
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            mitochondrial metabolism disease 329
              Pearson syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.