ONTOLOGY REPORT - ANNOTATIONS


Term:familial erythrocytosis 1
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Accession:DOID:0060652 term browser browse the term
Definition:A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. (DO)
Synonyms:exact_synonym: ECYT1;   Erythrocytosis autosomal dominant benign;   PFCP;   benign familial polycythemia;   congenital erythrocytosis;   hereditary erythrocytosis;   primary familial and congenital polycythemia;   primary familial polycythemia
 primary_id: MESH:C536842
 alt_id: OMIM:133100;   RDO:0002545
 xref: ORDO:90042
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familial erythrocytosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epor erythropoietin receptor JBrowse link 8 22,969,737 22,974,468 RGD:7240710
RGD:8554872
RGD:11041638
RGD:11041631
RGD:11041608
RGD:11041605
RGD:11041601
G Insl6 insulin-like 6 JBrowse link 1 247,473,292 247,476,827 RGD:8554872
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:7240710
RGD:8554872
G Sh2b3 SH2B adaptor protein 3 JBrowse link 12 40,261,990 40,265,757 RGD:7240710
RGD:8554872

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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 1 4
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 1 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.