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 14919
    disease of anatomical entity 14083
      hematopoietic system disease 1374
        polycythemia 24
          primary polycythemia 20
            familial erythrocytosis 3 1
Path 2
Term Annotations click to browse term
  disease 14919
    Developmental Diseases 7761
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7082
        genetic disease 6388
          monogenic disease 3218
            autosomal genetic disease 2156
              autosomal dominant disease 1111
                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.