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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | Friedreich Ataxia | |
| Synonyms |
Friedreich Ataxia Friedreich ataxia Friedreich's Ataxia |
|
| Definitions |
An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84718 |
|
| code |
C84718
|
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C193194 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus mCode
|
|
| DEFINITION |
An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances.
|
|
| FULL_SYN |
Friedreich Ataxia Friedreich ataxia Friedreich's Ataxia
|
|
| label |
Friedreich Ataxia
|
|
| Preferred_Name |
Friedreich Ataxia
|
|
| prefixIRI |
Thesaurus:C84718
|
|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C0016719
|
|
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176696 |
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