loading...| Preferred Name |
Spinocerebellar Ataxias |
|
| Synonyms |
Spinocerebellar Degeneration with Slow Eye Movements Type 2 Spinocerebellar Ataxia |
|
| Definitions |
A group of dominantly inherited, predominatly late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43) |
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| ID |
http://purl.bioontology.org/ontology/MESH/D020754 |
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| altLabel |
Spinocerebellar Degeneration with Slow Eye Movements Atrophy 2, Olivopontocerebellar Spinocerebellar Ataxia with Slow Eye Movements Spinocerebellar Ataxia-6 Olivopontocerebellar Atrophy IVs Spinocerebellar Ataxia Type 4 Spinocerebellar Ataxia 1 Syndrome, Wadia-Swami Spinocerebellar Ataxia, Autosomal Dominant, with Sensory Axonal Neuropathy Spinocerebellar Ataxia, Cuban Type Olivopontocerebellar Atrophy 2 Spinocerebellar Ataxia-7 Wadia-Swami Syndrome Ataxia, Spinocerebellar Atrophy I, Spinocerebellar Olivopontocerebellar Atrophy III Atrophy II, Olivopontocerebellar Atrophies, Spinocerebellar Spinocerebellar Ataxias, Dominantly Inherited Type 6 Spinocerebellar Ataxia Spinocerebellar Ataxia 4s Type 4 Spinocerebellar Ataxia SCA1 Spinocerebellar Ataxia 2 Ataxias, Spinocerebellar Olivopontocerebellar Atrophy IIs Spinocerebellar Ataxia-1 SCA1s OPCA with Retinal Degeneration Spinocerebellar Ataxia Type 2 Atrophy IIs, Spinocerebellar Spinocerebellar Atrophy IIs Wadia Swami Syndrome Menzel Type OPCA Ataxia 7, Spinocerebellar Cerebelloparenchymal Disorder Is Spinocerebellar Atrophy Is Spinocerebellar Ataxia 5 Olivopontocerebellar Atrophy, Holguin Type Ataxias, Dominantly-Inherited Spinocerebellar Dominantly Inherited Spinocerebellar Ataxias Spinocerebellar Ataxia 7 Atrophy IVs, Olivopontocerebellar Ataxia 5, Spinocerebellar Olivopontocerebellar Atrophy 2s Spinocerebellar Atrophy II Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia Type 1 Ataxia 2, Spinocerebellar Olivopontocerebellar Atrophy II Spinocerebellar Ataxias, Dominantly-Inherited Ataxia 6, Spinocerebellar Spinocerebellar Ataxia Type 6 OPCA, Schut-Haymaker Type OPCA with Macular Degeneration and External Ophthalmoplegia Spinocerebellar Ataxia 7s Syndrome, Wadia Swami Atrophy III, Olivopontocerebellar Olivopontocerebellar Atrophy Is Cerebellar Degeneration with Slow Eye Movements Atrophy, Spinocerebellar Swami Syndrome, Wadia Spinocerebellar Ataxia Olivopontocerebellar Atrophy IIIs Olivopontocerebellar Atrophy I Spinocerebellar Atrophy 2 Cerebelloparenchymal Disorder I Atrophy 2, Spinocerebellar Dominantly-Inherited Spinocerebellar Ataxias Spinocerebellar Ataxia 1s Atrophy I, Olivopontocerebellar Atrophy 2s, Olivopontocerebellar Ataxia 4, Spinocerebellar Spinocerebellar Ataxia 2s Dominantly-Inherited Spinocerebellar Ataxia Spinocerebellar Atrophy Spinocerebellar Atrophies Ataxia 1, Spinocerebellar Spinocerebellar Ataxia Type 5 Spinocerebellar Ataxia-2 Schut Haymaker Type OPCA Olivopontocerebellar Atrophy IV Spinocerebellar Ataxia 5s Atrophy IV, Olivopontocerebellar Spinocerebellar Ataxia 6 Atrophy 2s, Spinocerebellar Spinocerebellar Ataxia 4 Spinocerebellar Ataxia, Dominantly-Inherited Type 7 Spinocerebellar Ataxia Ataxia, Dominantly-Inherited Spinocerebellar Spinocerebellar Atrophy I Spinocerebellar Ataxia-4 OPCA, Menzel Type Spinocerebellar Ataxia 6s Autosomal Dominant Cerebellar Ataxia, Type II Type 1 Spinocerebellar Ataxia Schut-Haymaker Type OPCA Spinocerebellar Ataxia-5 Spinocerebellar Atrophy 2s Type 5 Spinocerebellar Ataxia Type 2 Spinocerebellar Ataxia |
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| AN |
SPINOCEREBELLAR ATAXIA TYPE 3 see MACHADO-JOSEPH DISEASE is available |
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| AQL |
BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
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| cui |
C0752122 C0752121 C5544494 C0752125 C0752120 C0752124 C0752123 C0087012 |
|
| DC |
1 |
|
| definition |
A group of dominantly inherited, predominatly late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43) A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43) |
|
| DX |
20000101 |
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| FX |
D000067699 D000067696 D000067528 D000067698 D000067719 |
|
| HN |
2000; use SPINOCEREBELLAR DEGENERATION 1987-1999 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
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| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D000067719 http://purl.bioontology.org/ontology/MESH/D000067699 http://purl.bioontology.org/ontology/MESH/D000067696 |
|
| Machine permutation |
2000; see SPINOCEREBELLAR DEGENERATION 1987-1999 |
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| Mapped from |
http://purl.bioontology.org/ontology/MESH/C565850 http://purl.bioontology.org/ontology/MESH/C564685 http://purl.bioontology.org/ontology/MESH/C537678 http://purl.bioontology.org/ontology/MESH/C564395 http://purl.bioontology.org/ontology/MESH/C566874 http://purl.bioontology.org/ontology/MESH/C536787 http://purl.bioontology.org/ontology/MESH/C566671 http://purl.bioontology.org/ontology/MESH/C537203 http://purl.bioontology.org/ontology/MESH/C537202 http://purl.bioontology.org/ontology/MESH/C537205 http://purl.bioontology.org/ontology/MESH/C536358 http://purl.bioontology.org/ontology/MESH/C537195 http://purl.bioontology.org/ontology/MESH/C537199 http://purl.bioontology.org/ontology/MESH/C537196 http://purl.bioontology.org/ontology/MESH/C537308 http://purl.bioontology.org/ontology/MESH/C564802 http://purl.bioontology.org/ontology/MESH/C565188 http://purl.bioontology.org/ontology/MESH/C567436 http://purl.bioontology.org/ontology/MESH/C565790 http://purl.bioontology.org/ontology/MESH/C575214 http://purl.bioontology.org/ontology/MESH/C563134 http://purl.bioontology.org/ontology/MESH/C566146 http://purl.bioontology.org/ontology/MESH/C563753 http://purl.bioontology.org/ontology/MESH/C564815 http://purl.bioontology.org/ontology/MESH/C566669 http://purl.bioontology.org/ontology/MESH/C567478 |
|
| MDA |
19991108 |
|
| MMR |
20210510 |
|
| MN |
C10.228.140.252.190.530 C10.574.500.825.700 C10.228.854.787.875 C10.597.350.090.500.530 C10.228.140.252.700.700 C16.320.400.780.875 |
|
| notation |
D020754 |
|
| prefLabel |
Spinocerebellar Ataxias |
|
| TERMUI |
T823016 T834121 T370566 T823015 T812493 T812472 T370562 T038628 T370549 T370558 T370561 T370552 T370559 T812488 T370565 T370554 T812474 T370560 T826655 T812487 T823017 T826654 T834119 T834116 T834122 T823019 T823013 T370557 T812484 T370564 T834117 T823018 T823014 T370553 T370555 T834120 T782143 T370569 T812485 T824495 T812471 T370556 T843483 T370567 T834118 T370550 T370551 T370568 T370563 T812490 T812480 |
|
| TH |
OMIM (2013) NLM (2000) NLM (2012) UNK (19XX) GHR (2014) NLM (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |