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.
ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar Annotator: match by term: XLMR hypotonic face syndrome ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome ClinVar Annotator: match by term: ATR-X syndrome ClinVar Annotator: match by OMIM:301040 DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human) DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human) DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human) ClinVar Annotator: match by null