loading...| Preferred Name | fragile X-associated tremor/ataxia syndrome | |
| Synonyms |
FXTAS syndrome |
|
| Definitions |
A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0050879 |
|
| alternative label |
FXTAS syndrome |
|
| created by |
lschriml |
|
| creation_date |
2014-08-04T01:52:12Z |
|
| database_cross_reference |
MIM:300623 |
|
| definition |
A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. |
|
| has exact synonym |
FXTAS syndrome |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050879 |
|
| in_subset | ||
| label |
fragile X-associated tremor/ataxia syndrome |
|
| notation |
DOID:0050879 |
|
| note |
A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. |
|
| preferred label |
fragile X-associated tremor/ataxia syndrome |
|
| prefLabel |
fragile X-associated tremor/ataxia syndrome |
|
| subClassOf |