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| DOID:0080803 | Name | cranioectodermal dysplasia 1 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. | ||||
| Parent | Is_a | DOID:0050577 | |||
| DB_info | Database | OMIM | disease | 218330 | |
| Attribute_of | Gene_by_orthology | WBGene00000906 |
