| Term Name: | cranioectodermal dysplasia 1 |
|---|---|
| Synonyms: | |
| Definition: | A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. |
| Ontology: | Human Disease [DOID:0080803] ( DOID:0080803 ) |