cerebrooculofacioskeletal syndrome 2
Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.
MONDO:0008926
COFS syndrome
is_a
COFS syndrome caused by mutation in ERCC2
exact
COFS2
exact
ERCC2 COFS syndrome
exact
cerebrooculofacioskeletal syndrome 2
exact
cerebrooculofacioskeletal syndrome type 2
exact
SPAC1D4.12