| Metadata | |
|---|---|
| ID | DOID:0080803 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080803 Copy |
| Name | cranioectodermal dysplasia 1 |
| Definition | A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. https://pubmed.ncbi.nlm.nih.gov/517478/ |
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