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cerebrooculofacioskeletal syndrome 3
Summary
- Definition
- A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33.
- Super Class
- cerebrooculofacioskeletal syndrome
External Links
- Disease Ontology
- DOID:0080913
- Mondo Disease Ontology
- MeSH
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28715 | DNA excision repair protein ERCC-5 |
