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Mondo Disease Ontology
| Preferred Name | Friedreich ataxia | |
| Synonyms |
hereditary spinal ataxia Friedreich ataxia with retained reflexes spinocerebellar ataxia, Friedreich hereditary spinal sclerosis FRDA Friedreich's Ataxia FA Friedreich's ataxia Friedreich ataxia Friedreich's tabes |
|
| Definitions |
An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0100339 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0100339 |
|
| database_cross_reference |
Orphanet:95 MedDRA:10017374 NCIT:C84718 NORD:818 MEDGEN:5276 MESH:D005621 icd11.foundation:980686666 GARD:6468 DOID:12705 ICD9:334.0 UMLS:C0016719 SCTID:10394003
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|
| definition |
An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.
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|
| has_exact_synonym |
FRDA Friedreich's Ataxia FA Friedreich's ataxia Friedreich ataxia Friedreich's tabes
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|
| has_related_synonym |
hereditary spinal ataxia Friedreich ataxia with retained reflexes spinocerebellar ataxia, Friedreich hereditary spinal sclerosis
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|
| id |
MONDO:0100339
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
Friedreich ataxia
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|
| notation |
MONDO:0100339
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|
| prefLabel |
Friedreich ataxia
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|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia |
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| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/10394003 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/980686666 http://purl.obolibrary.org/obo/NCIT_C84718 http://identifiers.org/medgen/5276 http://purl.obolibrary.org/obo/DOID_12705 http://identifiers.org/mesh/D005621 |
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| terms_creator | ||
| treeView | ||
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0005267 |
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| subClassOf |
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