ONTOLOGY REPORT - ANNOTATIONS


Term:fragile X-associated tremor/ataxia syndrome
go back to main search page
Accession:DOID:0050879 term browser browse the term
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. (DO)
Synonyms:exact_synonym: FXTAS;   FXTAS syndrome;   Fragile X Tremor Ataxia Syndrome
 primary_id: MESH:C564105
 alt_id: OMIM:300623;   RDO:0013175;   RDO:0015891
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fmr1 fragile X mental retardation 1 JBrowse link X 154,684,924 154,722,369 RGD:7240710
RGD:12050151
RGD:11554173
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655858

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      fragile X syndrome 13
        fragile X-associated tremor/ataxia syndrome 2
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            disease of mental health 4346
              developmental disorder of mental health 2600
                specific developmental disorder 1765
                  intellectual disability 1594
                    syndromic intellectual disability 665
                      Mental Retardation, X-Linked 651
                        fragile X syndrome 13
                          fragile X-associated tremor/ataxia syndrome 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.