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Disease Ontology Browser
cleft lip-palate-ectodermal dysplasia syndrome (DOID:0060773)
Synonyms: cleft lip/palate-syndactyly-pili torti syndrome; CLPED1; Margarita type of ectodermal dysplasia; syndactyly-ectodermal dysplasia-cleft/lip palate; Zlotogora-Zilberman-Tenenbaum syndrome
Alt IDs: OMIM:225060, ORDO:3253
Definition: An autosomal recessive disease 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.


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
09/12/2017
MGI 6.10
The Jackson Laboratory