Jump to:
loading...| Preferred Name |
Spinocerebellar Ataxia 17 |
| Synonyms |
SCA17 Spinocerebellar Ataxia 17 |
| ID |
http://purl.bioontology.org/ontology/MESH/C564616 |
| altLabel |
SCA17 Spinocerebellar Ataxia 17 HDL4 Huntington Disease-Like 4 Huntington Disease-Like 4 |
| cui |
C1846707 |
| HM |
D020754 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
43 |
| MMR |
20190624 |
| notation |
C564616 |
| prefLabel |
Spinocerebellar Ataxia 17 |
| SC |
3 |
| Scope Statement |
An autosomal dominant spinocerebellar ataxia that is caused by expanison of TRINUCLEOTIDE REPEATS in the TATA-BOX BINDING PROTEIN (TBP) gene. It is phenotypically similar to HUNTINGTON DISEASE; affected individuals may experience ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. OMIM: 607136 |
| TERMUI |
T805242 T805239 T000961966 T000961964 |
| TH |
OMIM (2013) NLM (2019) |
| tui |
T047 |
Create New Mapping