Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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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

UVSS1

ARMD5

ERCC6

CKN2

COFS1

CSB
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000138

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU001816

http://purl.bioontology.org/ontology/OMIM/MTHU000565

http://purl.bioontology.org/ontology/OMIM/MTHU004627

http://purl.bioontology.org/ontology/OMIM/MTHU018239

http://purl.bioontology.org/ontology/OMIM/MTHU013769

http://purl.bioontology.org/ontology/OMIM/MTHU036449

http://purl.bioontology.org/ontology/OMIM/MTHU000146

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

http://purl.bioontology.org/ontology/OMIM/MTHU013777

http://purl.bioontology.org/ontology/OMIM/MTHU006850

http://purl.bioontology.org/ontology/OMIM/MTHU018245

http://purl.bioontology.org/ontology/OMIM/MTHU013775

http://purl.bioontology.org/ontology/OMIM/MTHU013779

http://purl.bioontology.org/ontology/OMIM/MTHU018237

http://purl.bioontology.org/ontology/OMIM/MTHU013771

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

http://purl.bioontology.org/ontology/OMIM/MTHU013074

http://purl.bioontology.org/ontology/OMIM/MTHU001050

http://purl.bioontology.org/ontology/OMIM/MTHU013789

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU013783

http://purl.bioontology.org/ontology/OMIM/MTHU013781

http://purl.bioontology.org/ontology/OMIM/MTHU013787

http://purl.bioontology.org/ontology/OMIM/MTHU018240

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU001305

http://purl.bioontology.org/ontology/OMIM/MTHU010020

http://purl.bioontology.org/ontology/OMIM/MTHU013793

http://purl.bioontology.org/ontology/OMIM/MTHU013791

http://purl.bioontology.org/ontology/OMIM/MTHU036428

http://purl.bioontology.org/ontology/OMIM/MTHU001511

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU000623

http://purl.bioontology.org/ontology/OMIM/MTHU018238

http://purl.bioontology.org/ontology/OMIM/MTHU010262

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU036505

http://purl.bioontology.org/ontology/OMIM/MTHU000143

http://purl.bioontology.org/ontology/OMIM/MTHU036527

http://purl.bioontology.org/ontology/OMIM/MTHU000700

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

http://purl.bioontology.org/ontology/OMIM/MTHU013778

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU027046

http://purl.bioontology.org/ontology/OMIM/MTHU009306

http://purl.bioontology.org/ontology/OMIM/MTHU013772

http://purl.bioontology.org/ontology/OMIM/MTHU013770

http://purl.bioontology.org/ontology/OMIM/MTHU000064

http://purl.bioontology.org/ontology/OMIM/MTHU000151

http://purl.bioontology.org/ontology/OMIM/MTHU000566

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

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU000153

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU013788

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU018241

http://purl.bioontology.org/ontology/OMIM/MTHU018244

http://purl.bioontology.org/ontology/OMIM/MTHU013774

http://purl.bioontology.org/ontology/OMIM/MTHU013782

http://purl.bioontology.org/ontology/OMIM/MTHU018246

http://purl.bioontology.org/ontology/OMIM/MTHU013780

http://purl.bioontology.org/ontology/OMIM/MTHU000013

http://purl.bioontology.org/ontology/OMIM/MTHU002038

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

http://purl.bioontology.org/ontology/OMIM/MTHU013792

http://purl.bioontology.org/ontology/OMIM/MTHU002068

http://purl.bioontology.org/ontology/OMIM/MTHU013790

http://purl.bioontology.org/ontology/OMIM/MTHU013784

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000261

http://purl.bioontology.org/ontology/OMIM/MTHU009816

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU041272
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

133540
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

COCKAYNE SYNDROME B
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0080908 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D003057 Medical Subject Headings CUI