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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 17
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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;   autosomal dominant deafness 17;   deafness, autosomal dominant nonsyndromic sensorineural 17;   late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration
 narrow_synonym: COCHLEOSACCULAR DEGENERATION
 broad_synonym: MYH9-RELATED CONDITION
 primary_id: MESH:C538050
 alt_id: OMIM:603622


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration | ClinVar Annotator: match by term: MYH9-related condition		 OMIM
CTD
ClinVar		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      Hearing Disorders 821
        Hearing Loss 816
          sensorineural hearing loss 626
            autosomal dominant nonsyndromic deafness 79
              autosomal dominant nonsyndromic deafness 17 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            Otorhinolaryngologic Diseases 1741
              auditory system disease 994
                Hearing Disorders 821
                  Hearing Loss 816
                    Deafness 375
                      nonsyndromic deafness 216
                        autosomal dominant nonsyndromic deafness 79
                          autosomal dominant nonsyndromic deafness 17 1
paths to the root