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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.


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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 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 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
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 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        Neurologic Manifestations 4131
          Neurologic Gait Disorders 10
            Gait Ataxia 3
              Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          brain disease 8367
            movement disease 1090
              Dyskinesias 792
                Ataxia 341
                  Gait Ataxia 3
                    Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 1
paths to the root