Search Ontology:
Human Disease

cleft lip-palate-ectodermal dysplasia syndrome

Term ID
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
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. (2)
References
Ontology
Human Disease   ( DOID:0060773 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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