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

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Path 1
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  disease 14920
    disease of anatomical entity 14086
      hematopoietic system disease 1375
        polycythemia 24
          primary polycythemia 20
            familial erythrocytosis 5 1
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          monogenic disease 3222
            autosomal genetic disease 2160
              autosomal dominant disease 1111
                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.