loading...| Preferred Name |
Cockayne Syndrome |
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| 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. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036590 |
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| Database_Cross_Reference |
NCI:C9460 MTH:NOCODE NCI_NCI-GLOSS:CDR0000045491 RCD:PKy61 SNOMEDCT_US:21086008 SNM:D-2013 CHV:0000003116 SNOMEDCT_US:205832003 ICD10CM:Q87.1 MSH:D003057 NDFRT:N0000000802 CSP:2715-1516 MEDCIN:311836 SNMI:D4-00402 PDQ:CDR0000042486 DO:DOID:2962 CSP:0977-5812 MDR:10009835 JABL:234 CSP:1114-9354 |
|
| 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. |
|
| label |
Cockayne Syndrome |
|
| MCID |
MC00003033 |
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| PMOID |
PMO:00036590 |
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| prefixIRI |
pmo:PMO_00036590 |
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| prefLabel |
Cockayne Syndrome |
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| Synonym |
Progeroid Nanism mulvihill smith syndrome Cockayne syndrome 1 Cokayne syndrome cockayne syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Progeria-Like Syndromes syndrome cockayne cockayne's syndrome Cockayne syndrome (diagnosis) Cockayne syndrome Neill-Dingwall syndrome progeria-like syndrome Syndrome, Progeria-Like Progeria-like syndrome Cockayne syndrome (CS) 1 Syndrome, Cockayne progeroid syndrome Progeria Like Syndrome cockaynes syndrome Progeria-Like Syndrome Cockayne Syndrome [Disease/Finding] Dwarfism-retinal atrophy-deafness syndrome Cockayne's syndrome Cockayne syndrome (disorder) neill-dingwall syndrome |
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| Tree Number |
T9.8.4.44.17 T9.21.4.2.17 T9.9.4.2 T9.8.4.30.2 T9.8.3.1.38 T9.3.9.22.5.2 T9.11.1.17.5 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00038515 http://www.phoc.org.cn/pmo/class/PMO_00014139 http://www.phoc.org.cn/pmo/class/PMO_00036589 |