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ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 (DOID:0060783)
Alliance: disease page
Synonyms: EEC3; EEC syndrome 3
Alt IDs: OMIM:604292, MESH:C536189, NCI:C148261, 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 (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory