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ONTOLOGY REPORT - ANNOTATIONS


Term:familial erythrocytosis 3
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Accession:DOID:0080338 term browser browse the term
Definition:A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: ECYT3
 primary_id: MESH:C565221
 alt_id: DOID:9004799;   OMIM:609820;   RDO:0013924
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familial erythrocytosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egln1 egl-9 family hypoxia-inducible factor 1 JBrowse link 19 57,660,194 57,701,158 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      hematopoietic system disease 1594
        polycythemia 25
          primary polycythemia 21
            familial erythrocytosis 3 1
Path 2
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal dominant disease 2728
                familial erythrocytosis 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.