COCKAYNE SYNDROME A

CSA

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

CSA

C0751039

5q12

ERCC8

UVSS2

CKN1

CSA

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/MTHU013785

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/MTHU013768

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

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/MTHU006850

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

http://purl.bioontology.org/ontology/OMIM/MTHU000535

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/MTHU013773

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU013776

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

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

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/MTHU000132

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

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/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/MTHU037262

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/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/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/MTHU013786

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

Phenotype description, molecular basis known.

216411

216400

3

pound

COCKAYNE SYNDROME A

Genetic heterogeneity (see, e.g., Cockayne syndrome type B, 133540) [MISCELLANEOUS]

Caused by mutations in the ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene (ERCC8, 609412.0001) [MOLECULAR BASIS]

Phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) [MISCELLANEOUS]

T047