loading...| Preferred Name | Cockayne syndrome | |
| Synonyms |
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| Definitions |
An autosomal recessive disease that has material basis in rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_2962 |
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| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| definition |
An autosomal recessive disease that has material basis in rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. |
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| hasDbXref |
SNOMEDCT_US_2016_03_01:205832003 NCI:C9460 SNOMEDCT_US_2016_03_01:21086008 MESH:D003057 UMLS_CUI:C0009207 OMIM:216400 ORDO:90321 ORDO:90324 ICD10CM:Q87.1 ORDO:191 ORDO:90322 OMIM:216411 OMIM:133540 |
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| hasExactSynonym |
Neill-Dingwall syndrome |
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| hasOBONamespace |
disease_ontology |
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| hasRelatedSynonym |
Cockayne's syndrome |
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| id |
DOID:2962 |
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| imported from | ||
| inSubset | ||
| label |
Cockayne syndrome |
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| prefixIRI |
DOID:2962 |
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| prefLabel |
Cockayne syndrome |
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| subClassOf |