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loading...| Preferred Name |
Fragile X Tremor Ataxia Syndrome |
|
| Synonyms |
FXTAS Fragile X Tremor Ataxia Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C564105 |
|
| altLabel |
FXTAS Fragile X Tremor Ataxia Syndrome Fragile X-Associated Tremor Ataxia Syndrome Fxtas |
|
| cui |
C1839780 |
|
| HM |
D014202 D001259 D005600 |
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| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D001259 |
|
| MDA |
20121105 |
|
| MeSH Frequency |
226 |
|
| MMR |
20190620 |
|
| notation |
C564105 |
|
| prefLabel |
Fragile X Tremor Ataxia Syndrome |
|
| SC |
3 |
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| Scope Statement |
An ataxia caused by expanded TRINUCLEOTIDE REPEATS in the FMR1 gene on the X chromosome. Occurs predominantly in men over 50 years of age. In addition to ataxia, TREMOR, brain atrophy, and DEMENTIA also occur. OMIM: 300623 |
|
| TERMUI |
T000961640 T829088 T000866576 T841450 |
|
| TH |
OMIM (2013) NLM (2019) GHR (2014) |
|
| tui |
T047 |
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