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DO Term : cleft lip-palate-ectodermal dysplasia syndrome [DOID:0060773] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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,
  • GARD:375,
  • CLPED1,
  • Margarita type of ectodermal dysplasia,
  • Zlotogora-Zilberman-Tenenbaum syndrome,
  • OMIM:225060,
  • 225060,
  • ORDO:3253,
  • syndactyly-ectodermal dysplasia-cleft/lip palate
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents