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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 dominant nonsyndromic deafness 11
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Accession:DOID:0110543 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: DFNA11;   autosomal dominant deafness 11
 primary_id: MESH:C563353;   RDO:0012635
 alt_id: OMIM:601317



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autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 11
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:3130723 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 More... NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    sensory system disease 9679
      Hearing Disorders 1132
        Hearing Loss 1126
          sensorineural hearing loss 897
            autosomal dominant nonsyndromic deafness 136
              autosomal dominant nonsyndromic deafness 11 1
Path 2
Term Annotations click to browse term
  disease 40760
    Pathological Conditions, Signs and Symptoms 20966
      Signs and Symptoms 16046
        Neurologic Manifestations 15118
          sensory system disease 9679
            Otorhinolaryngologic Diseases 2266
              auditory system disease 1332
                Hearing Disorders 1132
                  Hearing Loss 1126
                    Deafness 637
                      nonsyndromic deafness 312
                        autosomal dominant nonsyndromic deafness 136
                          autosomal dominant nonsyndromic deafness 11 1
paths to the root