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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
 xref: MESH:D000071699;   MONDO:0015743


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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 chr14:43,319,768...43,395,028
Ensembl chr14:43,319,935...43,395,026 		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 2:137,445,787...137,536,512
Ensembl chr 2:137,445,788...137,470,355 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO DNA:repeat:intron:
DNA:repeats:intron:(AAGGG)n (human)
ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | ClinVar Annotator: match by term: RFC1-related condition 		OMIM
ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:35883251 PMID:36478048 PMID:30926972 More... RGD:41404727, RGD:41404728, RGD:401940162 NCBI chr14:43,319,768...43,395,028
Ensembl chr14:43,319,935...43,395,026 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          Bilateral Vestibulopathy 2
            Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 2
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            Otorhinolaryngologic Diseases 1809
              auditory system disease 1073
                inner ear disease 741
                  vestibular disease 111
                    Bilateral Vestibulopathy 2
                      Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 2
paths to the root