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cerebrooculofacioskeletal syndrome 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 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.
Mondo Term and Equivalent IDs
MONDO:0012554:  cerebrooculofacioskeletal syndrome 4
MESH:C565184: 
NCIT:C173104: 
UMLS:C1853100: