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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: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;   sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction
 primary_id: OMIM:557000
 xref: GARD:7343;   NCI:C115326


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Pearson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10166
      Pearson syndrome 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5521
            mitochondrial metabolism disease 808
              Pearson syndrome 1
paths to the root