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familial erythrocytosis 3 - Ontology Report - Rat Genome Database

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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;   EGLN1-RELATED CONDITION;   GLRA2-RELATED CONDITION
 xref: MESH:C565221;   MIM:609820;   MONDO:0012353

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show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Erythrocytosis, familial, 3		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16407130 PMID:17576681 PMID:17579185 PMID:17933562 More... NCBI chr19:69,765,276...69,804,681
Ensembl chr19:52,869,486...52,907,777 		JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: GLRA2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:33,035,387...33,051,993
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
G Glra2 glycine receptor, alpha 2 ISO ClinVar Annotator: match by term: GLRA2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:32,651,931...32,873,277
Ensembl chr  X:29,020,557...29,241,666 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      hematopoietic system disease 3837
        polycythemia 31
          primary polycythemia 26
            familial erythrocytosis 3 3
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                familial erythrocytosis 3 3
paths to the root