loading...| Preferred Name |
Machado-Joseph disease |
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| Synonyms |
spinocerebellar ataxia 3 Azorean disease of the nervous system Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia autosomal dominant striatonigral degeneration SCA3 Machado-Joseph disease Machado disease spinocerebellar ataxia type 3 Azorean disease MJD spinocerebellar atrophy type 3 Spinopontine atrophy Nigrospinodentatal Degeneration spinocerebellar atrophy 3 Azorean neurologic disease |
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| Definitions |
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007182 |
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| has_exact_synonym |
spinocerebellar ataxia 3 Azorean disease of the nervous system Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia autosomal dominant striatonigral degeneration SCA3 Machado-Joseph disease Machado disease spinocerebellar ataxia type 3 Azorean disease MJD |
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| has_related_synonym |
spinocerebellar atrophy type 3 Spinopontine atrophy Nigrospinodentatal Degeneration spinocerebellar atrophy 3 Azorean neurologic disease |
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| label |
Machado-Joseph disease |
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| prefixIRI |
MONDO:0007182 |
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| prefLabel |
Machado-Joseph disease |
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| textual definition |
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. |
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| subClassOf |