COFS syndrome
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
MONDO:0016006
Cockayne syndrome
excluded_subClassOf
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0016073
syndromic microphthalmia
is_a
MONDO:0021190
DNA repair disease
is_a
COFS
exact
Cerebro Oculo Facio Skeletal Syndrome
exact
Pena-Shokeir syndrome type 2
exact
cerebro-oculo-facio-skeletal syndrome
exact
cerebrooculofacioskeletal syndrome
exact
SPBC4F6.15c SPAC1D4.12 SPBC3E7.08c SPCP25A2.02c