Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

COCKAYNE SYNDROME A
Synonyms

CSA
ID

http://purl.bioontology.org/ontology/OMIM/216400
altLabel

CSA
cui

C0751039
Gene Locus

5q12
Gene Symbol

CSA

UVSS2

ERCC8

CKN1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000132

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/MTHU004627

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

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/MTHU013775

http://purl.bioontology.org/ontology/OMIM/MTHU013785

http://purl.bioontology.org/ontology/OMIM/MTHU013773

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

http://purl.bioontology.org/ontology/OMIM/MTHU004053

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU027835

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/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/MTHU013768

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/MTHU000700

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

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

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/MTHU013776

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

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/MTHU013786

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

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

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/MTHU027836

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU027834

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/MTHU000535

http://purl.bioontology.org/ontology/OMIM/MTHU037262
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

216411
notation

216400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

COCKAYNE SYNDROME A
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D003057 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0080907 Human Disease Ontology 123 LOOM