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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 3
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Accession:DOID:0080338 term browser browse the term
Definition:A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: ECYT3
 xref: MESH:C565221;   MIM:609820;   MONDO:0012353

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familial erythrocytosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 3 OMIM
ClinVar		 PMID:9536098 PMID:16407130 PMID:17576681 PMID:17579185 PMID:17933562 More... NCBI chr25:68,624,754...68,685,961
Ensembl chr25:68,625,260...68,682,804 		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 3 1
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 dominant disease 6519
                familial erythrocytosis 3 1
paths to the root