cerebrooculofacioskeletal syndrome 3

Term ID

DOID:0080913

Synonyms

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/

References

• MESH:C565035
• OMIM:616570

Ontology

Human Disease   ( DOID:0080913 )