Online Mendelian Inheritance in Man - COCKAYNE SYNDROME B - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	COCKAYNE SYNDROME B
Synonyms	CSB
ID	http://purl.bioontology.org/ontology/OMIM/133540
altLabel	CSB
cui	C0751038
Gene Locus	10q11
Gene Symbol	POF11 ERCC6 CSB ARMD5 UVSS1 COFS1 CKN2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU001816 http://purl.bioontology.org/ontology/OMIM/MTHU013789 http://purl.bioontology.org/ontology/OMIM/MTHU018237 http://purl.bioontology.org/ontology/OMIM/MTHU004627 http://purl.bioontology.org/ontology/OMIM/MTHU009816 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU013771 http://purl.bioontology.org/ontology/OMIM/MTHU001050 http://purl.bioontology.org/ontology/OMIM/MTHU013784 http://purl.bioontology.org/ontology/OMIM/MTHU013777 http://purl.bioontology.org/ontology/OMIM/MTHU018238 http://purl.bioontology.org/ontology/OMIM/MTHU013787 http://purl.bioontology.org/ontology/OMIM/MTHU010262 http://purl.bioontology.org/ontology/OMIM/MTHU013782 http://purl.bioontology.org/ontology/OMIM/MTHU013788 http://purl.bioontology.org/ontology/OMIM/MTHU018239 http://purl.bioontology.org/ontology/OMIM/MTHU006850 http://purl.bioontology.org/ontology/OMIM/MTHU000138 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU036505 http://purl.bioontology.org/ontology/OMIM/MTHU013770 http://purl.bioontology.org/ontology/OMIM/MTHU018241 http://purl.bioontology.org/ontology/OMIM/MTHU000566 http://purl.bioontology.org/ontology/OMIM/MTHU036428 http://purl.bioontology.org/ontology/OMIM/MTHU013791 http://purl.bioontology.org/ontology/OMIM/MTHU013779 http://purl.bioontology.org/ontology/OMIM/MTHU002038 http://purl.bioontology.org/ontology/OMIM/MTHU000565 http://purl.bioontology.org/ontology/OMIM/MTHU001511 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU000261 http://purl.bioontology.org/ontology/OMIM/MTHU036527 http://purl.bioontology.org/ontology/OMIM/MTHU013793 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU013792 http://purl.bioontology.org/ontology/OMIM/MTHU013772 http://purl.bioontology.org/ontology/OMIM/MTHU000146 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU013774 http://purl.bioontology.org/ontology/OMIM/MTHU000143 http://purl.bioontology.org/ontology/OMIM/MTHU000155 http://purl.bioontology.org/ontology/OMIM/MTHU013780 http://purl.bioontology.org/ontology/OMIM/MTHU018240 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU013778 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU000700 http://purl.bioontology.org/ontology/OMIM/MTHU013781 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU036449 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU000151 http://purl.bioontology.org/ontology/OMIM/MTHU000013 http://purl.bioontology.org/ontology/OMIM/MTHU000064 http://purl.bioontology.org/ontology/OMIM/MTHU013074 http://purl.bioontology.org/ontology/OMIM/MTHU009306 http://purl.bioontology.org/ontology/OMIM/MTHU013775 http://purl.bioontology.org/ontology/OMIM/MTHU001056 http://purl.bioontology.org/ontology/OMIM/MTHU013783 http://purl.bioontology.org/ontology/OMIM/MTHU010020 http://purl.bioontology.org/ontology/OMIM/MTHU000153 http://purl.bioontology.org/ontology/OMIM/MTHU013790 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU013769
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	133540
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	COCKAYNE SYNDROME B
Scope Statement	Caused by mutation in the ERCC excision repair 6, chromatin remodeling factor gene (ERCC6, 609413.0001) [MOLECULAR BASIS] Death by age 6-7 years [MISCELLANEOUS] Death from pneumonia [MISCELLANEOUS] Two types, type I or type A (classical Cockayne syndrome, 216400) and type II or type B (severe Cockayne syndrome, 133540) [MISCELLANEOUS] Characteristic face and body by age 2 years [MISCELLANEOUS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D003057	MESH	CUI
	http://purl.bioontology.org/ontology/SCTSPA/890434000	SCTSPA	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/890434000	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D003057	MSHFRE	CUI
	http://purl.obolibrary.org/obo/DOID_0080908	DOID	LOOM
	http://purl.obolibrary.org/obo/DOID_0080908	HHEAR	LOOM
	http://purl.obolibrary.org/obo/DOID_0080908	DDSS	LOOM
	http://purl.obolibrary.org/obo/DOID_0080908	NIFSTD	LOOM
	http://purl.obolibrary.org/obo/DOID_0080908	FNS-H	LOOM
	http://purl.obolibrary.org/obo/OMIM_133540	CCO	LOOM
	http://identifiers.org/omim/133540	REXO	LOOM
	http://identifiers.org/omim/133540	GEXO	LOOM
	http://identifiers.org/omim/133540	RETO	LOOM