cerebrooculofacioskeletal syndrome 3
Information
- Disease name
- cerebrooculofacioskeletal syndrome 3
- Disease ID
- DOID:0080913
- Description
- "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33." [url:https\://pubmed.ncbi.nlm.nih.gov/24700531/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0080910
- Cross Reference ID (Disease Ontology)
- MESH:C565035
- Cross Reference ID (Disease Ontology)
- MIM:616570