loading...| Preferred Name | Cockayne Syndrome | |
| Synonyms |
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| Definitions |
A syndrome characterized by multiple system abnormalities including dwarfism; photosensitivity disorders; premature aging; and hearing loss. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled dna repair processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; csa) is early childhood onset in the second year of life; type II (congenital; csb) is early onset at birth with severe symptoms; type iii (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms. [MeSH] |
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| ID |
http://www.radlex.org/RID/RID5131 |
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| Definition |
A syndrome characterized by multiple system abnormalities including dwarfism; photosensitivity disorders; premature aging; and hearing loss. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled dna repair processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; csa) is early childhood onset in the second year of life; type II (congenital; csb) is early onset at birth with severe symptoms; type iii (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms. [MeSH] |
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| label |
RID5131 |
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| Preferred_name |
Cockayne Syndrome |
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| prefixIRI |
RID1:RID5131 |
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| prefLabel |
Cockayne Syndrome |
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| UMLS_ID |
C0009207 |
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| subClassOf |