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DOID:0060783 - ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Disease Ontology 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.
Synonyms: EEC syndrome 3, EEC3,
Xenbase Genes
:
tp63
| MONDO:0011428 - ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
EEC syndrome (is_a)