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.
A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. (DO)
ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign ClinVar Annotator: match by term: Familial erythrocytosis, 1 ClinVar Annotator: match by OMIM:133100 DNA:deletion mutation:exon: DNA:nonsense mutation:exon:5881G>T(human) DNA:nonsense mutation:cds:6002G>A(human) DNA:nonsense mutation:cds:1251G>T(human)