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ONTOLOGY REPORT - ANNOTATIONS


Term:familial erythrocytosis 5
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Accession:DOID:0080290 term browser browse the term
Definition:A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: ECYT5
 primary_id: OMIM:617907
 alt_id: DOID:9009145
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familial erythrocytosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      hematopoietic system disease 1425
        polycythemia 24
          primary polycythemia 20
            familial erythrocytosis 5 1
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal dominant disease 2076
                familial erythrocytosis 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.