Cockayne syndrome A

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Summary

Literature (0)

DOID:0080907 - Cockayne syndrome A

Disease Ontology Definition:A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11.

Synonyms: Cockayne syndrome type 1, Cockayne syndrome type I,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ercc8

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Cockayne syndrome (is_a)