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:
cleft palate, cardiac defects, and intellectual disabillity
A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in MEIS2 on chromosome 15q14. (DO)
Synonyms:
exact_synonym:
CPCMR; Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies; cleft palate, cardiac defects, and impaired intellectual development; cleft palate, cardiac defects, and mental retardation