cerebrooculofacioskeletal syndrome 2

Term ID

DOID:0080912

Synonyms

Definition

A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/11443545/

References

• MESH:C565185
• OMIM:610756

Ontology

Human Disease   ( DOID:0080912 )