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Experimental Factor Ontology
| Preferred Name | Friedreich ataxia | |
| Synonyms |
Friedreich ataxia with retained reflexes hereditary spinal sclerosis hereditary spinal ataxia spinocerebellar ataxia, Friedreich Friedreich's tabes Friedreich's ataxia Friedreich ataxia Friedreich's Ataxia FA FRDA |
|
| 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 |
|
| closeMatch | ||
| creator | ||
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0100339 |
|
| database_cross_reference |
MedDRA:10017374 NCIT:C84718 MESH:D005621 UMLS:C0016719 MEDGEN:5276 Orphanet:95 icd11.foundation:980686666 SCTID:10394003 DOID:12705 GARD:6468 ICD9:334.0 NORD:818
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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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|
| 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 |
|
| has_exact_synonym |
Friedreich's tabes Friedreich's ataxia Friedreich ataxia Friedreich's Ataxia FA FRDA
|
|
| has_related_synonym |
Friedreich ataxia with retained reflexes hereditary spinal sclerosis hereditary spinal ataxia spinocerebellar ataxia, Friedreich
|
|
| id |
MONDO:0100339
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Friedreich ataxia
|
|
| notation |
MONDO:0100339
|
|
| preferred label |
Friedreich ataxia
|
|
| prefLabel |
Friedreich ataxia
|
|
| see also |
https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia |
|
| subClassOf | ||
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0005267 |
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