OBO ID: DOID:0060773
Term Name: cleft lip-palate-ectodermal dysplasia syndrome Search Ontology:
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)
OTHER cleft lip-palate-ectodermal dysplasia syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NECTIN1 Orofacial cleft 7 225060
Cleft lip/palate-ectodermal dysplasia syndrome 225060
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None