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orofacial cleft 15

Disease Summary
Associated Targets (1)


Mondo Description Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 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. OFC15 inheritance is autosomal dominant.
Disease Ontology Description An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21.
Mondo Term and Equivalent IDs
MONDO:0014772:  orofacial cleft 15