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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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| Preferred Name | Friedreich ataxia | |
| Synonyms |
FRDA |
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| Definitions |
(FRDA) - Autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region. |
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| ID |
http://identifiers.org/omim/229300 |
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| altLabel |
FRDA
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| definition |
(FRDA) - Autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region.
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| id |
OMIM:229300
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| notation |
OMIM:229300
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| prefLabel |
Friedreich ataxia
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| subClassOf |
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