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loading...| Preferred Name |
Cockayne syndrome A |
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| Synonyms |
Cockayne syndrome type 1 |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080907 |
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| database_cross_reference |
OMIM:216400 GARD:1415 ORDO:90321 |
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| 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. |
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| has exact synonym |
Cockayne syndrome type 1 Cockayne syndrome type I |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:0080907 |
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| in_subset | ||
| label |
Cockayne syndrome A |
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| notation |
DOID:0080907 |
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| prefLabel |
Cockayne syndrome A |
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| subClassOf |
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