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ONTOLOGY REPORT - ANNOTATIONS


Term:familial erythrocytosis 2
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Accession:DOID:0060474 term browser browse the term
Definition:A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. (DO)
Synonyms:exact_synonym: Chuvash erythromatosis;   Chuvash polycythemia;   Chuvash type polycythemia;   ECYT2;   autosomal recessive benign erythrocytosis;   familial erythrocytosis 2, autosomal recessive;   polycythemia, VHL-dependent
 primary_id: MESH:C563918
 alt_id: OMIM:263400
 xref: ORDO:238557
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familial erythrocytosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex JBrowse link 4 145,559,206 145,574,438 RGD:8554872
G Fancd2 FA complementation group D2 JBrowse link 4 145,489,869 145,551,479 RGD:8554872
G Fancd2os FANCD2 opposite strand JBrowse link 4 145,549,248 145,556,054 RGD:8554872
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:6483049
G Vhl von Hippel-Lindau tumor suppressor JBrowse link 4 145,580,869 145,587,835 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      hematopoietic system disease 1594
        polycythemia 25
          primary polycythemia 21
            familial erythrocytosis 2 5
Path 2
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal recessive disease 2339
                familial erythrocytosis 2 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.