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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: OMIM:263400
 xref: ORDO:238557
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
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 chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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 chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:21685897 RGD:6483049 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Chuvash polycythemia OMIM
ClinVar
PMID:1056348 PMID:2844285 PMID:7553625 PMID:7563486 PMID:7660122 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      hematopoietic system disease 2822
        polycythemia 28
          primary polycythemia 23
            familial erythrocytosis 2 5
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal recessive disease 4613
                familial erythrocytosis 2 5
paths to the root