loading...| Preferred Name | Friedreich ataxia | |
| Synonyms |
FRDA FA |
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| Definitions |
Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_95 |
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| alternative_term |
FRDA FA |
|
| definition |
Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95 |
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| has_age_of_onset |
Adolescent Childhood |
|
| has_inheritance |
Autosomal recessive |
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| hasDbXref |
ICD-10:G11.1 ICD-11:8A03.10 MedDRA:10017374 UMLS:C0016719 MeSH:D005621 OMIM:601992 OMIM:229300 |
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| label |
Friedreich ataxia |
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| notation |
ORPHA:95 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_207028 http://www.orpha.net/ORDO/Orphanet_217595 http://www.orpha.net/ORDO/Orphanet_522506 http://www.orpha.net/ORDO/Orphanet_98098 |
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| prefixIRI |
ORDO:Orphanet_95 |
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| prefLabel |
Friedreich ataxia |
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| present_in |
Sweden AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Greece AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 Russian Federation AND has_point_prevalence_average_value : 3.03 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 4.3 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_point_prevalence_average_value : 2.1 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 1.8 AND has_point_prevalence_range : 1-9 / 100 000 Czech Republic AND has_point_prevalence_average_value : 0.27 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 6.2 AND has_birth_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_207028 http://www.orpha.net/ORDO/Orphanet_217595 http://www.orpha.net/ORDO/Orphanet_522506 http://www.orpha.net/ORDO/Orphanet_98098 |
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| subClassOf |