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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:enlarged vestibular aqueduct
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Accession:DOID:0050332 term browser browse the term
Definition:A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts. (DO)
Synonyms:exact_synonym: EVA;   large vestibular aqueduct
 primary_id: RDO:9003730
 xref: GARD:8651
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
enlarged vestibular aqueduct term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISS OMIM:600791 MouseDO NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct ClinVar PMID:1283148 PMID:1695717 PMID:1757966 PMID:2210769 PMID:2236053 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 OMIM
ClinVar
PMID:17503324 PMID:20621367 PMID:20809947 PMID:24860705 PMID:25741868 More... NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 OMIM
ClinVar
PMID:19289823 PMID:19426954 PMID:20807765 PMID:23869231 PMID:23918157 More... NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO DNA:missense mutations, insertions, snp:multiple (human)
DNA:transition:intron:g.IVS7-2A>G (human)
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
OMIM
ClinVar
RGD
PMID:8285825 PMID:8541853 PMID:8630498 PMID:9070918 PMID:9398842 More... RGD:7411543, RGD:7411556, RGD:7411671, RGD:7421508 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    sensory system disease 6412
      auditory system disease 1070
        inner ear disease 796
          vestibular disease 154
            enlarged vestibular aqueduct 5
              autosomal recessive nonsyndromic deafness 4 4
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        sensory system disease 6412
          Otorhinolaryngologic Diseases 1665
            auditory system disease 1070
              inner ear disease 796
                vestibular disease 154
                  enlarged vestibular aqueduct 5
                    autosomal recessive nonsyndromic deafness 4 4
paths to the root