| Metadata | |
|---|---|
| ID | DOID:0080912 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080912 Copy |
| Name | cerebrooculofacioskeletal syndrome 2 |
| Definition | A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/11443545/ |
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