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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: MIM: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 ISO 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 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Setx senataxin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia | ClinVar Annotator: match by term: SETX-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2		 OMIM
CTD
ClinVar		 PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:25326637 PMID:25741868 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Neurodevelopmental Disorders 6946
        communication disorder 416
          agnosia 74
            apraxia 34
              spinocerebellar ataxia with axonal neuropathy 2 3
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            movement disease 2625
              Dyskinesias 2227
                Ataxia 953
                  Spinocerebellar Ataxias 555
                    cerebellar ataxia 480
                      autosomal recessive cerebellar ataxia 167
                        Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 5
                          spinocerebellar ataxia with axonal neuropathy 2 3
paths to the root