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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Friedreich Ataxia | |
| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C84718 |
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| code |
C84718
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| Contributing_Source |
Cellosaurus
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| 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.
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| in_subset | ||
| label |
Friedreich Ataxia
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| Preferred_Name |
Friedreich Ataxia
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| prefixIRI |
NCIT:C84718
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| prefLabel |
Friedreich Ataxia
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0016719
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| subClassOf |
http://purl.obolibrary.org/obo/NCIT_C176696 |
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