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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:fragile X-associated tremor/ataxia syndrome
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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: MIM:300623
 xref: NCI:C126566;   ORDO:93256


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fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
human gene in a mouse model
OMIM:300623
ClinVar Annotator: match by term: Fragile X tremor/ataxia syndrome | ClinVar Annotator: match by term: Fragile X-associated tremor/ataxia syndrome		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:25741868 PMID:27385396 PMID:15876460 RGD:12050151 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      fragile X syndrome 16
        fragile X-associated tremor/ataxia syndrome 2
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              developmental disorder of mental health 5654
                specific developmental disorder 4621
                  intellectual disability 4391
                    X-Linked Intellectual Developmental Disorders 826
                      fragile X syndrome 16
                        fragile X-associated tremor/ataxia syndrome 2
paths to the root