| Metadata | |
|---|---|
| ID | DOID:0080914 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080914 Copy |
| Name | cerebrooculofacioskeletal syndrome 4 |
| Definition | A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/23623389/ |
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