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Summary Literature (0)
DOID:0060773 - cleft lip-palate-ectodermal dysplasia syndrome

Disease Ontology Definition:A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23.

Synonyms: cleft lip/palate-syndactyly-pili torti syndrome, CLPED1, Margarita type of ectodermal dysplasia, syndactyly-ectodermal dysplasia-cleft/lip palate, Zlotogora-Zilberman-Tenenbaum syndrome

Xenbase Genes : nectin1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009151 - cleft lip/palate-ectodermal dysplasia syndrome

MIM:
MIM:225060 - CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)