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neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset - Ontology Report - Rat Genome Database

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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:neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
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Accession:DOID:0081364 term browser browse the term
Definition:A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: NADGP
 primary_id: MIM:617145
 alt_id: DOID:9005240
 xref: NCI:C210892

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neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC129995449 ATAC-STARR-seq lymphoblastoid silent region 16749 IAGP ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ClinVar NCBI chr 5:179,821,070...179,821,329 JBrowse link
G N Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ClinVar PMID:25741868 NCBI chrNW_004624733:42,699,950...42,718,623 JBrowse link
G G MRNIP MRN complex interacting protein ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ClinVar PMID:25741868 NCBI chr23:81,571,083...81,590,906
Ensembl chr23:81,571,199...81,590,815 		JBrowse link
G P MRNIP MRN complex interacting protein ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ClinVar PMID:25741868 NCBI chr 2:78,730,611...78,753,152 JBrowse link
G S Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ClinVar PMID:25741868 NCBI chrNW_004936739:926,678...955,024 JBrowse link
G D MRNIP MRN complex interacting protein ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ClinVar PMID:25741868 NCBI chr11:1,834,148...1,859,601
Ensembl chr11:1,833,967...1,859,347 		JBrowse link
G B MRNIP MRN complex interacting protein ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ClinVar PMID:25741868 NCBI chr 5:174,989,967...175,020,550
Ensembl chr 5:182,299,016...182,340,632 		JBrowse link
G C Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ClinVar PMID:25741868 NCBI chrNW_004955408:726,124...758,851 JBrowse link
G R Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ClinVar PMID:25741868 NCBI chr10:35,002,440...35,026,555
Ensembl chr10:34,501,384...34,525,469 		JBrowse link
G M Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ClinVar PMID:25741868 NCBI chr11:50,065,678...50,090,943
Ensembl chr11:50,065,271...50,090,942 		JBrowse link
G H MRNIP MRN complex interacting protein IAGP ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ClinVar PMID:25741868 NCBI chr 5:179,837,276...179,858,817
Ensembl chr 5:179,835,133...179,862,173 		JBrowse link
G N Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset OMIM
ClinVar		 PMID:22084127 PMID:23812289 PMID:24486447 PMID:24899140 PMID:25741868 More... NCBI chrNW_004624733:42,689,454...42,700,916
Ensembl chrNW_004624733:42,691,841...42,700,916 		JBrowse link
G G SQSTM1 sequestosome 1 ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset OMIM
ClinVar		 PMID:22084127 PMID:23812289 PMID:24486447 PMID:24899140 PMID:25741868 More... NCBI chr23:81,536,271...81,571,061
Ensembl chr23:81,558,082...81,574,830 		JBrowse link
G P SQSTM1 sequestosome 1 ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset OMIM
ClinVar		 PMID:22084127 PMID:23812289 PMID:24486447 PMID:24899140 PMID:25741868 More... NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938 		JBrowse link
G S Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset OMIM
ClinVar		 PMID:22084127 PMID:23812289 PMID:24486447 PMID:24899140 PMID:25741868 More... NCBI chrNW_004936739:943,080...955,296
Ensembl chrNW_004936739:938,745...955,263 		JBrowse link
G D SQSTM1 sequestosome 1 ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset OMIM
ClinVar		 PMID:22084127 PMID:23812289 PMID:24486447 PMID:24899140 PMID:25741868 More... NCBI chr11:1,859,776...1,869,289
Ensembl chr11:1,859,465...1,870,755 		JBrowse link
G B SQSTM1 sequestosome 1 ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset OMIM
ClinVar		 PMID:22084127 PMID:23812289 PMID:24486447 PMID:24899140 PMID:25741868 More... NCBI chr 5:174,960,727...174,989,946
Ensembl chr 5:182,284,436...182,299,093 		JBrowse link
G C Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset OMIM
ClinVar		 PMID:22084127 PMID:23812289 PMID:24486447 PMID:24899140 PMID:25741868 More... NCBI chrNW_004955408:757,426...764,989
Ensembl chrNW_004955408:757,426...771,615 		JBrowse link
G R Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset OMIM
ClinVar		 PMID:22084127 PMID:23812289 PMID:24486447 PMID:24899140 PMID:25741868 More... NCBI chr10:35,026,598...35,037,750
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G M Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset OMIM
ClinVar		 PMID:22084127 PMID:23812289 PMID:24486447 PMID:24899140 PMID:25741868 More... NCBI chr11:50,090,979...50,105,303
Ensembl chr11:50,090,193...50,101,654 		JBrowse link
G H SQSTM1 sequestosome 1 IAGP ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ClinVar
OMIM		 PMID:22084127 PMID:23812289 PMID:24486447 PMID:24899140 PMID:25741868 More... NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        neurodegenerative disease 56131
          neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 21
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          neurodegenerative disease 56131
            neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 21
paths to the root