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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 71
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Accession:DOID:0080267 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21. (DO)
Synonyms:exact_synonym: DFNA71;   autosomal dominant deafness 71
 primary_id: OMIM:617605



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autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 71 OMIM
ClinVar
PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 More... NCBI chr15:30,386,009...30,557,976
Ensembl chr15:48,719,150...48,890,708
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    sensory system disease 6622
      Hearing Disorders 760
        Hearing Loss 754
          sensorineural hearing loss 569
            autosomal dominant nonsyndromic deafness 77
              autosomal dominant nonsyndromic deafness 71 1
Path 2
Term Annotations click to browse term
  disease 18006
    Pathological Conditions, Signs and Symptoms 12014
      Signs and Symptoms 9951
        Neurologic Manifestations 9630
          sensory system disease 6622
            Otorhinolaryngologic Diseases 1663
              auditory system disease 934
                Hearing Disorders 760
                  Hearing Loss 754
                    Deafness 357
                      nonsyndromic deafness 204
                        autosomal dominant nonsyndromic deafness 77
                          autosomal dominant nonsyndromic deafness 71 1
paths to the root