loading...| Preferred Name |
Friedreich ataxia |
| ID |
http://www.orpha.net/ORDO/Orphanet_95 |
| 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. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 |
| has_age_of_onset |
Adolescent Childhood |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
UMLS:C0016719 MeSH:D005621 OMIM:601992 ICD-10:G11.1 ICD-11:8A03.10 OMIM:229300 MedDRA:10017374 |
| label |
Friedreich ataxia |
| notation |
ORPHA:95 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_519341 http://www.orpha.net/ORDO/Orphanet_207028 http://www.orpha.net/ORDO/Orphanet_68385 http://www.orpha.net/ORDO/Orphanet_522506 |
| prefixIRI |
ORDO:Orphanet_95 |
| prefLabel |
Friedreich ataxia |
| present_in |
Sweden AND has_point_prevalence_average_value : 0.24 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 Spain AND has_birth_prevalence_average_value : 6.2 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 1.0 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 Russian Federation AND has_point_prevalence_average_value : 3.03 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 Portugal AND has_point_prevalence_average_value : 0.9 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 Finland AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000 Greece AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_point_prevalence_average_value : 0.27 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 Europe AND has_point_prevalence_average_value : 2.0 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 Spain AND has_point_prevalence_average_value : 4.3 AND has_point_prevalence_range : 1-9 / 100 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_519341 http://www.orpha.net/ORDO/Orphanet_207028 http://www.orpha.net/ORDO/Orphanet_68385 http://www.orpha.net/ORDO/Orphanet_522506 |
| subClassOf |