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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:autosomal recessive nonsyndromic deafness 18B
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Accession:DOID:0110474 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: DFNB18B;   OTOG-RELATED CONDITION;   autosomal recessive deafness 18B
 primary_id: OMIM:614945


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autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otog otogelin ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:614945
ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 More... NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    sensory system disease 7035
      Hearing Disorders 821
        Hearing Loss 816
          sensorineural hearing loss 627
            autosomal recessive nonsyndromic deafness 143
              autosomal recessive nonsyndromic deafness 18B 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        Neurologic Manifestations 10113
          sensory system disease 7035
            Otorhinolaryngologic Diseases 1741
              auditory system disease 995
                Hearing Disorders 821
                  Hearing Loss 816
                    Deafness 376
                      nonsyndromic deafness 217
                        autosomal recessive nonsyndromic deafness 143
                          Autosomal Recessive Nonsyndromic Deafness 18 2
                            autosomal recessive nonsyndromic deafness 18B 1
paths to the root