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ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.
Uniprot Description A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant syndrome characterized by ectrodactyly of hands and feet, ectodermal dysplasia and facial clefting.
Disease Ontology Description An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material basis in heterozygous mutation in the TP63 gene on chromosome 3q28.
Mondo Term and Equivalent IDs
MONDO:0011428:  ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
MESH:C565799: