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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 15
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Accession:DOID:0110546 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 POU4F3 gene on chromosome 5q32. (DO)
Synonyms:exact_synonym: DFNA15;   POU4F3-RELATED CONDITION;   autosomal dominant deafness 15
 primary_id: MESH:C566545
 alt_id: OMIM:602459


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autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC127814297 RBM27-POU4F3 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 15
ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition		 ClinVar PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 More... NCBI chr 5:146,203,605...146,341,728 JBrowse link
G POU4F3 POU class 4 homeobox 3 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 15
ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 More... NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      Hearing Disorders 1140
        Hearing Loss 1134
          sensorineural hearing loss 904
            autosomal dominant nonsyndromic deafness 138
              autosomal dominant nonsyndromic deafness 15 2
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            Otorhinolaryngologic Diseases 2281
              auditory system disease 1340
                Hearing Disorders 1140
                  Hearing Loss 1134
                    Deafness 651
                      nonsyndromic deafness 321
                        autosomal dominant nonsyndromic deafness 138
                          autosomal dominant nonsyndromic deafness 15 2
paths to the root