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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:Gait Ataxia
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Accession:DOID:9002563 term browser browse the term
Definition:Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES.
Synonyms:exact_synonym: Ataxia of Gait;   Cerebellar Gait;   Cerebellar Gait Ataxia;   Cerebellar Gait Ataxias;   Cerebellar Gaits;   Gait Ataxias;   Sensory Gait Ataxia;   Sensory Gait Ataxias
 primary_id: MESH:D020234


show annotations for term's descendants           Sort by:
Gait Ataxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn7 ataxin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25664129 NCBI chr15:11,117,360...11,262,818
Ensembl chr15:11,118,886...11,263,106 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait ataxia ClinVar PMID:25741868 NCBI chr16:7,663,665...7,723,416
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Gait ataxia ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait ataxia ClinVar PMID:25741868 NCBI chr15:22,884,006...22,917,412
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Gait ataxia ClinVar PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Wwox WW domain-containing oxidoreductase IAGP compared to wild type and heterozygotes RGD PMID:17803050 RGD:150429978 NCBI chr19:59,338,402...60,269,323
Ensembl chr19:42,432,152...43,359,391 		JBrowse link
G Wwoxlde WW domain-containing oxidoreductase; lde mutant IAGP compared to wild type and heterozygotes RGD PMID:17803050 RGD:150429978
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: DHPS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment OMIM
ClinVar		 PMID:25741868 PMID:30661771 NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881 		JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment ClinVar PMID:25741868 PMID:30250217 NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563 		JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment ClinVar PMID:25741868 PMID:30250217 NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14354
        Neurologic Manifestations 10440
          Neurologic Gait Disorders 20
            Gait Ataxia 11
              Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 3
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14354
        central nervous system disease 12627
          brain disease 11847
            movement disease 2631
              Dyskinesias 2231
                Ataxia 956
                  Gait Ataxia 11
                    Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 3
paths to the root