Metadata | |
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ID | DOID:0080911 |
Name | cerebrooculofacioskeletal syndrome 1 |
Definition | A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. https://pubmed.ncbi.nlm.nih.gov/20456449/ |
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