| dbo:description |
Krankheit (de) хвороба (uk) systémová atrofie postihující primárně centrální nervovou soustavu (cs) joseph machado (nl) autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene (en) |
| dbo:diseasesDB |
31961 |
| dbo:icd10 |
G11.1 |
| dbo:icd9 |
334.2 |
| dbo:meshId |
D017827 |
| dbo:omim |
109150 (xsd:integer) |
| dbo:thumbnail |
wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300 |
| dbo:wikiPageWikiLink |
dbr:Arnaldo_Duran dbr:Flores_Island_(Azores) dbr:Groote_Eylandt dbr:Aphagia dbr:Aphasia dbc:Neurodegenerative_disorders dbr:Parkinsonism dbr:Exon dbc:Systemic_atrophies_primarily_affecting_the_central_nervous_system dbr:Spasticity dbr:Baclofen dbr:Spinocerebellar_ataxia dbr:Hypokinesia dbr:Algeria dbr:Belgium dbr:Brazil dbc:Rare_diseases dbr:China dbr:France dbr:Japan dbr:Portugal dbr:Atrophy dbr:Pons dbc:Disorders_of_synthesis_of_DNA,_RNA,_and_proteins dbr:Striatum dbr:Gene dbr:Genetic_disorder dbr:Ataxia dbr:New_England dbr:Cerebellum dbr:Paresthesia dbr:William_Machado dbr:Diplopia dbr:Parkinson's_disease dbr:Mutation dbr:Chromosome_14 dbr:Dystonia dbr:Levodopa dbr:Hindbrain dbr:Occupational_therapy dbr:Upper_limb dbr:Autosomal_dominant dbr:Speech-Language_Pathologist dbr:Azores dbr:Motor_control dbr:Gait_training dbr:Brain_stem dbr:Motor_coordination dbr:Ataxin dbr:Jew dbr:Mobility_aid dbr:ATXN3 dbr:Physiotherapy dbr:Neurodegenerative dbr:Physical_Therapy dbr:Ophthalmoplegia dbr:Hereditary_Spastic_Paraplegia dbr:Guilherme_Karam dbr:Lower_extremities dbr:Ataxin-3 |
| dbp:caption |
Machado–Joseph disease is inherited via an autosomal dominant manner (en) |
| dbp:diseasesdb |
31961 (xsd:integer) |
| dbp:icd |
334.200000 (xsd:double) (en) G11.1 (en) |
| dbp:meshid |
D017827 (en) |
| dbp:name |
Machado-Joseph disease (en) |
| dbp:omim |
109150 (xsd:integer) |
| dbp:synonyms |
Autosomal dominant striatonigral degeneration, Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia (en) |
| dbp:wikiPageUsesTemplate |
dbt:Reflist dbt:NINDS dbt:Use_dmy_dates dbt:Trinucleotide_repeat_disorders dbt:Disorders_of_translation_and_posttranslational_modification dbt:Citation_needed dbt:Medical_resources dbt:CNS_diseases_of_the_nervous_system dbt:Infobox_medical_condition_(new) dbt:Short_description |
| dbp:wordnet_type |
http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1 |
| dct:subject |
dbc:Neurodegenerative_disorders dbc:Systemic_atrophies_primarily_affecting_the_central_nervous_system dbc:Rare_diseases dbc:Disorders_of_synthesis_of_DNA,_RNA,_and_proteins |
| gold:hypernym |
dbr:Autosomal |
| rdf:type |
owl:Thing wikidata:Q12136 |
| rdfs:label |
Machado–Joseph disease (en) مرض ماتشادو جوزيف (ar) Malaltia de Machado-Joseph (ca) Enfermedad de Machado-Joseph (es) マチャド・ジョセフ病 (ja) Maladie de Machado-Joseph (fr) Doença de Machado-Joseph (pt) Machado-Josephs sjukdom (sv) |
| owl:sameAs |
freebase:Machado–Joseph disease wikidata:Machado–Joseph disease dbpedia-fr:Machado–Joseph disease dbpedia-ja:Machado–Joseph disease dbpedia-pt:Machado–Joseph disease dbpedia-he:Machado–Joseph disease dbpedia-es:Machado–Joseph disease dbpedia-sv:Machado–Joseph disease dbpedia-ca:Machado–Joseph disease dbpedia-ar:Machado–Joseph disease dbpedia-bs:Machado–Joseph disease dbpedia-global:Machado–Joseph disease |
| prov:wasDerivedFrom |
wikipedia-en:Machado–Joseph_disease?oldid=1290591077&ns=0 |
| foaf:depiction |
wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg |
| foaf:isPrimaryTopicOf |
wikipedia-en:Machado–Joseph_disease |
| foaf:name |
Machado-Joseph disease (en) |
| is dbo:wikiPageRedirects of |
dbr:Spinocerebellar_Ataxia_Type-3 dbr:Spinocerebellar_ataxia_type_3 dbr:Machado-Joseph_Azorean_disease dbr:Machado-Joseph_Disease dbr:Machado-Joseph_disease dbr:Machado-joseph_disease dbr:SCA3 |
| is dbo:wikiPageWikiLink of |
dbr:List_of_eponymous_diseases dbr:Annalisa_Pastore dbr:Rheobase dbr:List_of_OMIM_disorder_codes dbr:MJD dbr:Makassan_contact_with_Australia dbr:Anindilyakwa_language dbr:Cerebellum dbr:List_of_MeSH_codes_(C16) dbr:List_of_neurological_conditions_and_disorders dbr:List_of_abbreviations_for_diseases_and_disorders dbr:Olivopontocerebellar_atrophy dbr:Anindilyakwa_people dbr:Truncal_ataxia dbr:Secret_Story_6_(Portuguese_season) dbr:Spinocerebellar_Ataxia_Type-3 dbr:Spinocerebellar_ataxia_type_3 dbr:Machado-Joseph_Azorean_disease dbr:Machado-Joseph_Disease dbr:Machado-Joseph_disease dbr:Machado-joseph_disease dbr:SCA3 |
| is foaf:primaryTopic of |
wikipedia-en:Machado–Joseph_disease |