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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:Bilateral Vestibulopathy
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Accession:DOID:9006473 term browser browse the term
Definition:Impairment of the vestibular function of both inner ears which can cause difficulties with balance, gait, VERTIGO, and visual blurring.
Synonyms:exact_synonym: Bilateral Vestibular Deficiency;   Bilateral Vestibular Insufficiency;   Bilateral Vestibular Loss;   Vestibular Areflexia
 primary_id: MESH:D000071699;   RDO:0016070
For additional species annotation, visit the Alliance of Genome Resources.


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Bilateral Vestibulopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr14:44,627,528...44,702,205
Ensembl chr14:44,580,216...44,702,203
JBrowse link
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elf2 E74 like ETS transcription factor 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar NCBI chr 2:140,310,374...140,399,312
Ensembl chr 2:140,310,375...140,387,505
JBrowse link
G Rfc1 replication factor C subunit 1 ISO OMIM NCBI chr14:44,627,528...44,702,205
Ensembl chr14:44,580,216...44,702,203
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        Neurologic Manifestations 4214
          Bilateral Vestibulopathy 2
            CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              inner ear disease 533
                vestibular disease 49
                  Bilateral Vestibulopathy 2
                    CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME 2
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.