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ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 (DOID:0060783)
Synonyms: EEC3; EEC syndrome 3
Alt IDs: OMIM:604292, ICD10CM:Q82.4, ORDO:1896, UMLS_CUI:C0406704
Definition: 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.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/11/2017
MGI 6.10
The Jackson Laboratory