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:
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia
ClinVar Annotator: match by OMIM:300367 DNA:missense mutation: :p.M205V, 613G>A (human) DNA:missense mutation: :p.D218G, 653A>G (human) DNA:missense mutation: :p.G208S, [622G>T;623G>C] (human) ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA ClinVar Annotator: match by term: GATA-1-related thrombocytopenia with dyserythropoiesis ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia