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cerebrooculofacioskeletal syndrome 1

^ http://purl.obolibrary.org/obo/MONDO_0008955

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • OMIM:214150 (MONDO:equivalentTo)
  • DOID:0080911 (MONDO:equivalentTo)
  • NCIT:C173085 (MONDO:equivalentTo)
abbreviation
COFS1 [ MONDO:Lexical OMIM:214150 ]

definition

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.

exactMatch

https://omim.org/entry/214150, http://purl.obolibrary.org/obo/DOID_0080911, http://purl.obolibrary.org/obo/NCIT_C173085

has broad synonym

COFS syndrome

has exact synonym

cerebrooculofacioskeletal syndrome 1, ERCC6 COFS syndrome, cerebrooculofacioskeletal syndrome type 1, COFS syndrome caused by mutation in ERCC6, COFS1

has related synonym

Pena-Shokeir syndrome, type 2

id

MONDO:0008955

Term relations

Subclass of: