WormBase Tree Display for DO_term: DOID:0111697
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DOID:0111697 | Name | cleft palate, cardiac defects, and intellectual disabillity | |||
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Status | Valid | ||||
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. | ||||
Synonym | Exact | CPCMR | |||
cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | |||||
cleft palate, cardiac defects, and mental retardation | |||||
Parent | Is_a | DOID:225 | |||
DOID:0050736 | |||||
DB_info | Database | OMIM | disease | 600987 | |
Attribute_of | Gene_by_orthology | WBGene00006796 |