General Information of Disease (ID: DISKFZG7)

Disease Name Orofacial cleft 11
Synonyms
congenital Healed cleft lip; cleft Lip, congenital Healed; OFC11; cleft lip with or without cleft palate, nonsyndromic, 11; orofacial cleft caused by mutation in BMP4; orofacial cleft 11; orofacial cleft type 11; BMP4 orofacial cleft
Definition Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.
Disease Hierarchy
DIST1HG6: Orofacial cleft
DIS14IG3: Cleft lip/palate
DISKFZG7: Orofacial cleft 11
Disease Identifiers
MONDO ID
MONDO_0010906
MESH ID
C567410
UMLS CUI
C2677434
OMIM ID
600625
MedGen ID
436944

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BMP4 TTD3BSX Limited Autosomal dominant [1]
BMP4 TTD3BSX Limited Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BMP4 OTPZMDFH Limited Autosomal dominant [1]
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References

1 Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet. 2009 Mar;84(3):406-11. doi: 10.1016/j.ajhg.2009.02.002. Epub 2009 Feb 26.