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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 12
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Accession:DOID:0110544 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: DFNA12;   DFNA8;   autosomal dominant deafness 12;   autosomal dominant deafness 8;   autosomal dominant deafness 8/12
 primary_id: MESH:C563295
 alt_id: OMIM:601543
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO ClinVar Annotator: match by OMIM:601543
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8
OMIM
ClinVar
PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 PMID:11333869 More... NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    sensory system disease 5700
      auditory system disease 921
        inner ear disease 655
          sensorineural hearing loss 614
            autosomal dominant nonsyndromic deafness 160
              autosomal dominant nonsyndromic deafness 12 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        sensory system disease 5700
          Otorhinolaryngologic Diseases 1370
            auditory system disease 921
              Hearing Disorders 748
                Hearing Loss 744
                  Deafness 388
                    nonsyndromic deafness 279
                      autosomal dominant nonsyndromic deafness 160
                        autosomal dominant nonsyndromic deafness 12 1
paths to the root