|
DOID:0111697 - cleft palate, cardiac defects, and intellectual disabillity
Disease Ontology Definition: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 the MEIS2 gene on chromosome 15q14.
Synonyms: cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, cleft palate, cardiac defects, and mental retardation, CPCMR
Xenbase Genes
:
meis2
| MIM:600987 - CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; CPCMR |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)