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loading...| Preferred Name |
Spinocerebellar Ataxia with Epilepsy |
| Synonyms |
Myoclonic Epilepsy Myopathy Sensory Ataxia |
| ID |
http://purl.bioontology.org/ontology/MESH/C564395 |
| altLabel |
Myoclonic Epilepsy Myopathy Sensory Ataxia |
| cui |
C1843852 |
| HM |
D020754 D028361 D004827 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D028361 |
| MDA |
20121105 |
| MeSH Frequency |
0 |
| MMR |
20131024 |
| notation |
C564395 |
| prefLabel |
Spinocerebellar Ataxia with Epilepsy |
| SC |
3 |
| Scope Statement |
mutation in POLG |
| TERMUI |
T842095 T829567 |
| TH |
OMIM (2013) GHR (2014) |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/174763 | Online Mendelian Inheritance in Man | CUI | |
| http://purl.bioontology.org/ontology/OMIM/607459 | Online Mendelian Inheritance in Man | CUI |