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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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: MIM:263400
 xref: ORDO:238557

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familial erythrocytosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Chuvash polycythemia ClinVar PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 More... NCBI chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Chuvash polycythemia ClinVar PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 More... NCBI chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Chuvash polycythemia ClinVar PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 More... NCBI chr22:46,144,575...46,150,638
Ensembl chr22:46,144,859...46,145,392 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Chuvash polycythemia ClinVar PMID:9663592 PMID:17102083 PMID:17661816 PMID:19336503 PMID:24555745 More... NCBI chr22:46,204,600...46,279,863
Ensembl chr22:46,204,893...46,278,260 		JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:21685897 RGD:6483049 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Chuvash polycythemia | ClinVar Annotator: match by term: Erythrocytosis, familial, 2 | ClinVar Annotator: match by term: POLYCYTHEMIA, VHL-DEPENDENT OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      hematopoietic system disease 3627
        polycythemia 25
          primary polycythemia 22
            familial erythrocytosis 2 6
Path 2
Term Annotations click to browse term
  disease 15388
    Developmental Disease 13448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12573
        genetic disease 12270
          monogenic disease 10515
            autosomal genetic disease 10066
              autosomal recessive disease 6789
                familial erythrocytosis 2 6
paths to the root