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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C9460
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C9460
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|---|---|
| Preferred Name | Cockayne Syndrome |
| Definitions |
An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.
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| Synonyms |
Cockayne Syndrome
Cockayne syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Cockayne Syndrome
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|---|---|
| Legacy Concept Name |
Cockayne_Syndrome
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| Preferred_Name |
Cockayne Syndrome
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| Display_Name |
Cockayne Syndrome
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| Semantic_Type |
Disease or Syndrome
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| prefixIRI |
Thesaurus:C9460
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| DEFINITION |
An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.
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| UMLS_CUI |
C0009207
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| code |
C9460
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| subClassOf | |
| type | |
| FULL_SYN |
Cockayne Syndrome
Cockayne syndrome
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| ALT_DEFINITION |
A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation.
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| Contributing_Source |
Cellosaurus
CTRP
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| Concept_In_Subset |
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