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orofacial cleft 5

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.
Uniprot Description A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
Mondo Term and Equivalent IDs
MONDO:0012142:  orofacial cleft 5
MESH:C563843: 
UMLS:C1837210: