cerebrooculofacioskeletal syndrome 1
Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.
MONDO:0008926
COFS syndrome
is_a
COFS syndrome
broad
COFS syndrome caused by mutation in ERCC6
exact
COFS1
exact
ERCC6 COFS syndrome
exact
cerebrooculofacioskeletal syndrome 1
exact
cerebrooculofacioskeletal syndrome type 1
exact
SPCP25A2.02c