Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 17
go back to main search page
Accession:DOID:0110548 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12. (DO)
Synonyms:exact_synonym: DFNA17;   Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration;   autosomal dominant deafness 17;   deafness, autosomal dominant nonsyndromic sensorineural 17
 narrow_synonym: COCHLEOSACCULAR DEGENERATION
 primary_id: MESH:C538050
 alt_id: OMIM:603622;   RDO:0003984
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 17
ClinVar Annotator: match by term: Deafness, autosomal dominant 17
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17
OMIM
ClinVar
PMID:9390828 PMID:11023810 PMID:11590545 PMID:11752022 PMID:12533692 PMID:16969870 PMID:17146397 PMID:18059020 PMID:18676005 PMID:19557653 PMID:20588287 PMID:22123909 PMID:22477015 PMID:22995991 PMID:23144074 PMID:23349334 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25752595 PMID:25949529 PMID:26226608 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28059092 PMID:28492532 PMID:29090586 PMID:30720677 PMID:31064749 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    sensory system disease 5336
      auditory system disease 850
        inner ear disease 637
          sensorineural hearing loss 597
            MYH-9 related disease 1
              autosomal dominant nonsyndromic deafness 17 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          Otorhinolaryngologic Diseases 1270
            auditory system disease 850
              Hearing Disorders 710
                Hearing Loss 706
                  Deafness 384
                    nonsyndromic deafness 278
                      autosomal dominant nonsyndromic deafness 160
                        autosomal dominant nonsyndromic deafness 17 1
paths to the root