| Metadata | |
|---|---|
| ID | DOID:0060773 |
| Name | cleft lip-palate-ectodermal dysplasia 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. https://www.ncbi.nlm.nih.gov/pubmed/3035184, https://www.ncbi.nlm.nih.gov/pubmed/9758630 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
cleft lip/palate-syndactyly-pili torti syndrome [EXACT] CLPED1 [EXACT] Margarita type of ectodermal dysplasia [EXACT] syndactyly-ectodermal dysplasia-cleft/lip palate [EXACT] Zlotogora-Zilberman-Tenenbaum syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |