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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 chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370 		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 PMID:29628936 NCBI chr 2:135,292,291...135,385,942
Ensembl chr 2:135,294,906...135,385,947 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO DNA:repeat:intron:
ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome		 OMIM
ClinVar
RGD		 PMID:25741868 PMID:30926972 PMID:32040566 RGD:41404727, RGD:41404728 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        Neurologic Manifestations 6220
          Bilateral Vestibulopathy 2
            Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 2
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          Otorhinolaryngologic Diseases 1649
            auditory system disease 1068
              inner ear disease 789
                vestibular disease 153
                  Bilateral Vestibulopathy 2
                    Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 2
paths to the root