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cerebrooculofacioskeletal syndrome 1
Disease Summary
Associated Targets (4)
Tchem
2
Tbio
2
Mondo Description Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.
Uniprot Description A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:214150
MONDO:0008955
High level summary of knowledge for a disease, including descriptions and datasource references.