Details of Disease | DrugMAP

General Information of Disease (ID: DISP6AXI)

Disease Name	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
Synonyms	cleft palate, Cardiac defects, and intellectual disability; cleft palate, CARDIAC defects, and intellectual disability; cleft palate, Cardiac defects, and mental retardation; CPCMR; cleft palate, CARDIAC defects, and mental retardation; cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
Disease Hierarchy	DISYKSRF: Genetic disease DISP6AXI: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
Disease Identifiers	MONDO ID MONDO_0010970 MESH ID C563414 UMLS CUI C1832950 OMIM ID 600987 MedGen ID 318752

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MEIS2	OTG4ADLM	Definitive	Autosomal dominant	[1]
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References

1	De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux. J Hum Genet. 2016 Sep;61(9):835-8. doi: 10.1038/jhg.2016.54. Epub 2016 May 26.