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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Cockayne syndrome +     
cerebrooculofacioskeletal syndrome +   
Cockayne syndrome A  
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. (DO)
Cockayne syndrome B  
Forsythe-Wakeling Syndrome 
XFE progeroid syndrome  

Synonyms
Exact Synonyms: CSA ;   Cockayne syndrome type 1 ;   Cockayne syndrome type A ;   Cockayne syndrome, classical ;   Type I Cockayne Syndrome ;   group A Cockayne syndrome
Broad Synonyms: ERCC8-RELATED CONDITION
Primary IDs: OMIM:216400
Alternate IDs: DOID:9007866
Xrefs: GARD:1415 ;   MONDO:0019569 ;   NCI:C135725
Definition Sources: https://medlineplus.gov/genetics/condition/cockayne-syndrome/ "DO" "DO"

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