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loading...| Preferred Name |
Spinocerebellar ataxia 14 |
| ID |
http://purl.bioontology.org/ontology/MESH/C537196 |
| cui |
C1854369 |
| HM |
D020754 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
14 |
| MMR |
20150927 |
| notation |
C537196 |
| PI |
*SPINOCEREBELLAR DEGENERATIONS (2010-2015) |
| prefLabel |
Spinocerebellar ataxia 14 |
| SC |
3 |
| Scope Statement |
A hereditary autosomal dominant spinocerebellar ataxia with a mean age of onset of 31 years. It is characterized primarily by GAIT ATAXIA; cerebellar DYSARTHRIA, slowed SACCADES, ocular dysmetria, and HYPERREFLEXIA. Mutations in the PRKCG gene have been identified. OMIM: 605361 |
| TERMUI |
T741779 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
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