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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:Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy
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Accession:DOID:9000588 term browser browse the term
Synonyms:xref: OMIM:PS607250
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
ataxia with oculomotor apraxia type 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: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26467025 PMID:28492532 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 1
ClinVar Annotator: match by term: Ataxia-ocular apraxia-2
ClinVar Annotator: match by OMIM:606002		 OMIM
ClinVar		 PMID:14770181 PMID:15732101 PMID:17159128 PMID:18058631 PMID:18414213 PMID:18625865 PMID:19569000 PMID:19696032 PMID:20540686 PMID:20981092 PMID:21190393 PMID:22088787 PMID:23129421 PMID:23757202 PMID:23806086 PMID:23881933 PMID:23941260 PMID:24033266 PMID:24088041 PMID:25025039 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25382069 PMID:25741868 PMID:25802885 PMID:26257172 PMID:26467025 PMID:26601740 PMID:26633545 PMID:27013921 PMID:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28832565 PMID:29650794 PMID:32165824 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539 		JBrowse link
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa7 cytochrome c oxidase assembly factor 7 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 OMIM
ClinVar		 PMID:27683825 PMID:29718187 PMID:30885959 NCBI chr 5:127,925,726...127,936,516
Ensembl chr 5:127,925,726...127,936,509 		JBrowse link
spinocerebellar ataxia type 1 with axonal neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 OMIM
ClinVar		 PMID:12244316 PMID:24355542 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:123,895,860...123,963,688
Ensembl chr 6:123,897,956...123,963,675 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            axonal neuropathy 24
              Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 4
                Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 1
                ataxia with oculomotor apraxia type 2 2
                spinocerebellar ataxia type 1 with axonal neuropathy 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            movement disease 1094
              Dyskinesias 797
                Ataxia 338
                  Spinocerebellar Ataxias 223
                    cerebellar ataxia 188
                      autosomal recessive cerebellar ataxia 69
                        Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 4
                          Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 1
                          ataxia with oculomotor apraxia type 2 2
                          spinocerebellar ataxia type 1 with axonal neuropathy 1
paths to the root