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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 69
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Accession:DOID:0110590 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21. (DO)
Synonyms:exact_synonym: DCUA;   DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC;   DFNA69;   Deafness, autosomal dominant 69, unilateral or asymmetric;   autosomal dominant deafness 69
 primary_id: MIM:616697;   RDO:9000404
 xref: ICD10CM:H90.3


show annotations for term's descendants           Sort by:
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    sensory system disease 7253
      Hearing Disorders 839
        Hearing Loss 834
          sensorineural hearing loss 644
            autosomal dominant nonsyndromic deafness 82
              autosomal dominant nonsyndromic deafness 69 1
Path 2
Term Annotations click to browse term
  disease 19051
    Pathological Conditions, Signs and Symptoms 13531
      Signs and Symptoms 11088
        Neurologic Manifestations 10339
          sensory system disease 7253
            Otorhinolaryngologic Diseases 1790
              auditory system disease 1052
                Hearing Disorders 839
                  Hearing Loss 834
                    Deafness 383
                      nonsyndromic deafness 223
                        autosomal dominant nonsyndromic deafness 82
                          autosomal dominant nonsyndromic deafness 69 1
paths to the root