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COFS syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008926

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. [ Orphanet:1466 ]

Term info

database cross reference
  • Orphanet:1466 (MONDO:equivalentTo)
  • OMIMPS:214150 (MONDO:equivalentTo)
  • GARD:0006027 (MONDO:equivalentTo)
  • DOID:0080910 (MONDO:equivalentTo)
  • UMLS:C0220722 (Orphanet:1466/e)
  • NCIT:C3817 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype, prototype_pattern

definition

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C0220722, http://purl.obolibrary.org/obo/Orphanet_1466, http://purl.obolibrary.org/obo/DOID_0080910, https://omim.org/phenotypicSeries/PS214150, http://purl.obolibrary.org/obo/NCIT_C3817

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0016006

has exact synonym

cerebro-oculo-facio-skeletal syndrome, COFS, cerebrooculofacioskeletal syndrome, Pena-Shokeir syndrome type 2

id

MONDO:0008926