|
| General Information | |||
|---|---|---|---|
| Term | cleft lip-palate-ectodermal dysplasia syndrome | ID (Ontology) | DOID:0060773 (Human Disease) |
| 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. | ||
| Also Known As | "cleft lip/palate-syndactyly-pili torti syndrome" ; "CLPED1" ; "Margarita type of ectodermal dysplasia" (for all, see Synonyms field below) | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| cleft lip-palate-ectodermal dysplasia syndrome |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease syndrome |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:375 MIM:225060 ORDO:3253 |
|||