Cleft Lip-Palate-Ectodermal Dysplasia Syndrome
Disease ID: disease_node_20323
Connections displayed (default: 10).
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| Dbxref | GARD:375, MIM:225060, ORDO:3253 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CLPED1, Margarita type of ectodermal dysplasia, Zlotogora-Zilberman-Tenenbaum syndrome, cleft lip/palate-syndactyly-pili torti syndrome, syndactyly-ectodermal dysplasia-cleft/lip palate |
| Doid Label | cleft lip-palate-ectodermal dysplasia syndrome |
| Doid 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20323 |
| Doid Id | DOID_0060773 |
| Label | Cleft Lip-Palate-Ectodermal Dysplasia Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)