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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
Echinobase Genes
:
| 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, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)