Visualize Submit Comment

Metadata
ID	DOID:0080913
Name	cerebrooculofacioskeletal syndrome 3
Definition	A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33. https://pubmed.ncbi.nlm.nih.gov/24700531/
Xrefs	MESH:C565035 MIM:616570
Parent Relationships	is_a cerebrooculofacioskeletal syndrome