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autosomal dominant nonsyndromic deafness 69 - Ontology Report - Rat Genome Database

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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

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autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Kitl 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 chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278 		JBrowse link
G N 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 chrNW_004624837:7,456,116...7,541,764
Ensembl chrNW_004624837:7,456,120...7,541,730 		JBrowse link
G 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 chr11:83,856,149...83,943,095
Ensembl chr11:83,856,157...83,943,083 		JBrowse link
G P 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 5:94,016,992...94,110,219
Ensembl chr 5:94,017,387...94,110,214 		JBrowse link
G S 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 chrNW_004936507:5,566,144...5,650,412
Ensembl chrNW_004936507:5,565,821...5,650,828 		JBrowse link
G D 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 chr15:29,591,068...29,671,985
Ensembl chr15:29,591,170...29,671,974 		JBrowse link
G B 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 chr12:86,036,501...86,124,274
Ensembl chr12:89,341,921...89,436,758 		JBrowse link
G C 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 chrNW_004955405:25,816,137...25,969,006
Ensembl chrNW_004955405:25,886,447...25,969,395 		JBrowse link
G R 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 7:36,782,621...36,863,796
Ensembl chr 7:34,896,053...34,977,214 		JBrowse link
G H KITLG KIT ligand IAGP 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 chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      Hearing Disorders 8892
        Hearing Loss 8838
          sensorineural hearing loss 6611
            autosomal dominant nonsyndromic deafness 915
              autosomal dominant nonsyndromic deafness 69 10
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            Otorhinolaryngologic Diseases 19638
              auditory system disease 11215
                Hearing Disorders 8892
                  Hearing Loss 8838
                    Deafness 4116
                      nonsyndromic deafness 2338
                        autosomal dominant nonsyndromic deafness 915
                          autosomal dominant nonsyndromic deafness 69 10
paths to the root