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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 Fxtas Fragile X-Associated Tremor Ataxia Syndrome |
| cui |
C1839780 |
| HM |
D014202 D001259 D005600 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D014202 |
| MDA |
20121105 |
| MeSH Frequency |
226 |
| MMR |
20190620 |
| notation |
C564105 |
| prefLabel |
Fragile X Tremor Ataxia Syndrome |
| SC |
3 |
| 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 |
T841450 T829088 T000961640 T000866576 |
| TH |
OMIM (2013) NLM (2019) GHR (2014) |
| tui |
T047 |
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