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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
 alt_id: RDO:0007366
For additional species annotation, visit the Alliance of Genome Resources.


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 chr15:12,421,432...12,569,649
Ensembl chr15:12,425,175...12,513,931
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Ataxia of gait ClinVar PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7611293, PMID:7635485, PMID:7762555, PMID:8554066, PMID:8803779, PMID:8940271, PMID:9708897, PMID:9864922, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10807759, PMID:11230183, PMID:11359213, PMID:11434706, PMID:12552044, PMID:14722927, PMID:15146473, PMID:16375773, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19819175, PMID:20506325, PMID:20567906, PMID:22069143, PMID:22267502, PMID:23592311, PMID:24033266, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28492532, PMID:28583326, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia of gait ClinVar PMID:25741868 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Ataxia of gait ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Ataxia of gait ClinVar PMID:25741868 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
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: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT OMIM
ClinVar
PMID:25741868, PMID:30661771 NCBI chr19:26,184,665...26,188,755
Ensembl chr19:26,184,545...26,188,832
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        Neurologic Manifestations 4189
          Neurologic Gait Disorders 19
            Gait Ataxia 6
              Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                Ataxia 395
                  Gait Ataxia 6
                    Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.