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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 BPGM 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: OMIM:222800
 xref: ORDO:714
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM:222800
DNA:point mutation, deletion: :p.R89C (human)
ClinVar Annotator: match by term: BISPHOSPHOGLYCERATE MUTASE DEFICIENCY
OMIM
ClinVar
RGD
PMID:152321 PMID:1421379 PMID:2542247 PMID:15054810 PMID:25015942 More... RGD:1600522 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          familial erythrocytosis 8 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Hemic and Lymphatic Diseases 2337
        hematopoietic system disease 1914
          bone marrow disease 605
            polycythemia 28
              primary polycythemia 23
                familial erythrocytosis 8 1
paths to the root