COFS syndrome

rare

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.

Identifiers: MONDO:0008926 Orphanet:1466
Part of: DNA repair disease Autosomal recessive disease Syndromic microphthalmia
Also known as: Cerebro Oculo Facio Skeletal Syndrome · cerebro-oculo-facio-skeletal syndrome · cerebrooculofacioskeletal syndrome · COFS · Pena-Shokeir syndrome type 2

Subtypes

All diseases Rare only

Disease

Cerebrooculofacioskeletal syndrome 1 MONDO:0008955 ERCC6
Cerebrooculofacioskeletal syndrome 2 MONDO:0012553 ERCC2
Cerebrooculofacioskeletal syndrome 3 MONDO:0014696 ERCC5
Cerebrooculofacioskeletal syndrome 4 MONDO:0012554 ERCC1
Xeroderma pigmentosum group G MONDO:0010216 ERCC5

Projects

Including projects on subtypes.

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