FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Cockayne syndrome A

Synonyms
Definitions

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.

ID

http://purl.obolibrary.org/obo/DOID_0080907

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Cockayne syndrome A

prefixIRI

DOID:0080907

prefLabel

Cockayne syndrome A

subClassOf

http://purl.obolibrary.org/obo/DOID_2962

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