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 Platelet Disorder with Associated Myeloid Malignancy
FPD/AML; FPDAML; FPDMM; HEREDITARY THROMBOCYTOPENIA AND HEMATOLOGIC CANCER PREDISPOSITION SYNDROME; HEREDITARY THROMBOCYTOPENIA AND HEMATOLOGICAL CANCER PREDISPOSITION SYNDROME ASSOCIATED WITH RUNX1; PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; Platelet Disorder, Aspirin-Like; Thrombocytopenia, Familial, with Propensity to Acute Myelogenous Leukemia
ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Platelet disorder, Aspirin-like