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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:spinocerebellar ataxia with axonal neuropathy 2
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Accession:DOID:0050755 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. (DO)
Synonyms:exact_synonym: AOA2;   SCAN2;   SCAR1;   ataxia with oculomotor apraxia;   ataxia with oculomotor apraxia type 2;   ataxia-ocular apraxia 2;   ataxia-oculomotor apraxia 2;   autosomal recessive spinocerebellar ataxia 1;   autosomal recessive spinocerebellar ataxia with axonal neuropathy 2;   recessive spinocerebellar ataxia, Non-Friedreich type 1;   spinocerebellar ataxia with axonal neuropathy type 2
 broad_synonym: SETX-RELATED CONDITION;   SETX-RELATED DISORDER;   SETX-RELATED DISORDERS
 primary_id: MESH:C537308
 alt_id: OMIM:606002
 xref: GARD:12860;   NCI:C165500;   ORDO:64753


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spinocerebellar ataxia with axonal neuropathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130 		JBrowse link
G LOC126860782 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:135144739-135145938 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: SETX-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:132,268,683...132,270,655 JBrowse link
G LOC126860783 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:135229958-135231157 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ClinVar PMID:25741868 NCBI chr 9:132,354,250...132,355,770 JBrowse link
G SETX senataxin IAGP
EXP		 ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: SETX-related condition
ClinVar Annotator: match by term: SETX-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More... NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Neurodevelopmental Disorders 13563
        communication disorder 605
          agnosia 90
            apraxia 38
              spinocerebellar ataxia with axonal neuropathy 2 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            movement disease 3274
              Dyskinesias 2681
                Ataxia 1296
                  Spinocerebellar Ataxias 742
                    cerebellar ataxia 654
                      autosomal recessive cerebellar ataxia 236
                        Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 8
                          spinocerebellar ataxia with axonal neuropathy 2 4
paths to the root