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DO Term : Cockayne syndrome A [DOID:0080907] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
216400,
ORDO:90321,
GARD:1415,
OMIM:216400,
Cockayne syndrome type 1,
Cockayne syndrome type I

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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