Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/616570
http://purl.bioontology.org/ontology/OMIM/616570
Preferred Name

CEREBROOCULOFACIOSKELETAL SYNDROME 3
Synonyms
COFS3
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
COFS3
prefLabel
CEREBROOCULOFACIOSKELETAL SYNDROME 3
Gene Symbol
COFS3
XPG
ERCC5
notation
616570
Scope Statement
Caused by mutation in the excision repair, complementing defective, in Chinese hamster, 5 gene (ERCC5, 133530.0003) [MOLECULAR BASIS]
One consanguineous Pakistani family and 1 unrelated patient have been reported (last curated September 2015) [MISCELLANEOUS]
Early death [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU052267
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU048281
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU033304
http://purl.bioontology.org/ontology/OMIM/MTHU009588
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU036342
http://purl.bioontology.org/ontology/OMIM/MTHU001153
http://purl.bioontology.org/ontology/OMIM/MTHU035862
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU038242
http://purl.bioontology.org/ontology/OMIM/MTHU070060
http://purl.bioontology.org/ontology/OMIM/MTHU026195
http://purl.bioontology.org/ontology/OMIM/MTHU030468
http://purl.bioontology.org/ontology/OMIM/MTHU000002
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
13q33
tui
T047
cui
C1851443
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