Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

CEREBROOCULOFACIOSKELETAL SYNDROME 1
Synonyms

COFS

COFS1

COFS SYNDROME

PENA-SHOKEIR SYNDROME, TYPE II
ID

http://purl.bioontology.org/ontology/OMIM/214150
altLabel

COFS

COFS1

COFS SYNDROME

PENA-SHOKEIR SYNDROME, TYPE II
cui

C0220722
Gene Locus

10q11
Gene Symbol

POF11

ERCC6

CSB

ARMD5

UVSS1

COFS1

CKN2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000269

http://purl.bioontology.org/ontology/OMIM/MTHU013952

http://purl.bioontology.org/ontology/OMIM/MTHU037325

http://purl.bioontology.org/ontology/OMIM/MTHU013954

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU033304

http://purl.bioontology.org/ontology/OMIM/MTHU036369

http://purl.bioontology.org/ontology/OMIM/MTHU013950

http://purl.bioontology.org/ontology/OMIM/MTHU002677

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU037326

http://purl.bioontology.org/ontology/OMIM/MTHU013951

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU013948

http://purl.bioontology.org/ontology/OMIM/MTHU004589

http://purl.bioontology.org/ontology/OMIM/MTHU036361

http://purl.bioontology.org/ontology/OMIM/MTHU005747

http://purl.bioontology.org/ontology/OMIM/MTHU000564

http://purl.bioontology.org/ontology/OMIM/MTHU013949

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU004110

http://purl.bioontology.org/ontology/OMIM/MTHU002115

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU000090

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU037327

http://purl.bioontology.org/ontology/OMIM/MTHU013953

http://purl.bioontology.org/ontology/OMIM/MTHU003211

http://purl.bioontology.org/ontology/OMIM/MTHU005748

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU013955

http://purl.bioontology.org/ontology/OMIM/MTHU021233

http://purl.bioontology.org/ontology/OMIM/MTHU013956

http://purl.bioontology.org/ontology/OMIM/MTHU000189

http://purl.bioontology.org/ontology/OMIM/MTHU013957

http://purl.bioontology.org/ontology/OMIM/MTHU036571

http://purl.bioontology.org/ontology/OMIM/MTHU013958

http://purl.bioontology.org/ontology/OMIM/MTHU001056

http://purl.bioontology.org/ontology/OMIM/MTHU010339

http://purl.bioontology.org/ontology/OMIM/MTHU000235
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

214150
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CEREBROOCULOFACIOSKELETAL SYNDROME 1
Scope Statement

Caused by mutation in the ERCC excision repair 6, chromatin remodeling factor gene (ERCC6, 609413.0007) [MOLECULAR BASIS]

Death in childhood [MISCELLANEOUS]
tui

T047
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