loading...| Preferred Name | obsolete_Friedreich ataxia | |
| Synonyms |
Friedreich's tabes Friedreich's ataxia Hereditary ataxia-Friedreich’s type FA FRDA |
|
| 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. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_95 |
|
| Obsolete |
true |
|
| database_cross_reference |
MedDRA:10017374 UMLS:C0016719 MeSH:D005621 ICD10:G11.1 OMIM:601992 OMIM:229300 |
|
| 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 |
|
| deprecated |
true |
|
| has_exact_synonym |
Friedreich's tabes Friedreich's ataxia Hereditary ataxia-Friedreich’s type FA FRDA |
|
| label |
obsolete_Friedreich ataxia |
|
| obsoleted_in_version |
3.41.0 |
|
| preferred label |
obsolete_Friedreich ataxia |
|
| prefLabel |
obsolete_Friedreich ataxia |
|
| reason_for_obsolescence |
Replaced with Mondo term. |
|
| term replaced by | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_95 | EFO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_95 | ORDO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_95 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0009245 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0001573 | MONDO | LOOM |