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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 DNA:point mutation, deletion: :p.R89C (human)
ClinVar Annotator: match by term: Hemolytic anemia due to diphosphoglycerate mutase deficiency 		OMIM
ClinVar
RGD		 PMID:152321 PMID:1421379 PMID:2542247 PMID:15054810 PMID:25015942 More... RGD:1600522 NCBI chr 4:64,106,809...64,135,749
Ensembl chr 4:64,106,804...64,135,627 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          familial erythrocytosis 8 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3839
          bone marrow disease 830
            polycythemia 31
              primary polycythemia 26
                familial erythrocytosis 8 1
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