Machado-Joseph disease
(Q3026441)
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
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
Language:
Current Data About
Machado-Joseph disease
| (P31) |
(Q55788864)
(Q929833) (Q112193867) |
||||||||||||||||||
| (P279) |
(Q899726)
(Q55346087)
(Q24977062)
(Q12136) |
||||||||||||||||||
| (P1692) |
336.8
|
||||||||||||||||||
| (P1748) |
C84830
|
||||||||||||||||||
| (P1995) |
(Q83042)
|
||||||||||||||||||
| (P2293) |
(Q18029139)
|
||||||||||||||||||
| (P2888) |
http://purl.obolibrary.org/obo/DOID_1440
http://identifiers.org/doid/DOID:1440
|
||||||||||||||||||
| (P5008) |
(Q4099686)
|
other details
| aliases |
Azorean disease (disorder) MJD spinocerebellar ataxia type 3 spinocerebellar ataxia 3 Azorean disease Nigrospinodentatal Degeneration MACHADO-JOSEPH DISEASE; MJD Autosomal dominant striatonigral degeneration Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia Spinopontine Atrophy Spinocerebellar Atrophy 3 Machado disease Azorean Neurologic Disease Azorean disease of the nervous system SCA3 MACHADO-JOSEPH DISEASE |
| description | 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 |
External Links