Term Name: | cerebrooculofacioskeletal syndrome 2 |
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Synonyms: | |
Definition: | A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. |
Ontology: | Human Disease [DOID:0080912] ( DOID:0080912 ) |