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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 8
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Accession:DOID:0111630 term browser browse the term
Definition:A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. (DO)
Synonyms:exact_synonym: BISPHOSPHOGLYCEROMUTASE DEFICIENCY;   BPGM DEFICIENCY;   Bisphosphoglycerate Mutase Deficiency;   DPGM deficiency;   ECYT8;   diphosphoglycerate mutase deficiency of erythrocyte;   hemolytic anemia due to diphosphoglycerate mutase deficiency
 primary_id: MIM:222800
 xref: ORDO:714

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familial erythrocytosis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPGM bisphosphoglycerate mutase ISO ClinVar Annotator: match by term: Diphosphoglycerate mutase deficiency of erythrocyte | ClinVar Annotator: match by term: Hemolytic anemia due to diphosphoglycerate mutase deficiency OMIM
ClinVar		 PMID:152321 PMID:1421379 PMID:2542247 PMID:15054810 PMID:25015942 More... NCBI chr21:103,336,777...103,369,396
Ensembl chr21:103,336,809...103,372,186 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    Nutritional and Metabolic Diseases 7361
      disease of metabolism 7361
        inherited metabolic disorder 5834
          familial erythrocytosis 8 1
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      Hemic and Lymphatic Diseases 4104
        hematopoietic system disease 3627
          bone marrow disease 783
            polycythemia 25
              primary polycythemia 22
                familial erythrocytosis 8 1
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