Preferred Name |
Cockayne syndrome A |
|
Synonyms |
Cockayne syndrome type 1 Cockayne syndrome type I |
|
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 |
|
database_cross_reference |
OMIM:216400 GARD:1415 ORDO:90321 |
|
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. |
|
has exact synonym |
Cockayne syndrome type 1 Cockayne syndrome type I |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0080907 |
|
in_subset | ||
label |
Cockayne syndrome A |
|
notation |
DOID:0080907 |
|
prefLabel |
Cockayne syndrome A |
|
subClassOf |
Create mapping