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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 recessive nonsyndromic deafness 3
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Accession:DOID:0110488 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11. (DO)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 3;   DFNB3;   MYO15A-RELATED CONDITION;   NRSD3;   NSRD3;   Neurosensory Nonsyndromic Recessive Deafness 3;   autosomal recessive deafness 3;   autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3
 primary_id: MESH:C563961
 alt_id: OMIM:600316;   RDO:0013076


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autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Myo15a myosin XVA ISO
IAGP		 OMIM:600316
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3		 OMIM
MouseDO
CTD
ClinVar		 PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 More... NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    sensory system disease 6744
      Hearing Disorders 813
        Hearing Loss 808
          sensorineural hearing loss 617
            autosomal recessive nonsyndromic deafness 143
              autosomal recessive nonsyndromic deafness 3 2
Path 2
Term Annotations click to browse term
  disease 18300
    Pathological Conditions, Signs and Symptoms 12356
      Signs and Symptoms 10134
        Neurologic Manifestations 9788
          sensory system disease 6744
            Otorhinolaryngologic Diseases 1731
              auditory system disease 986
                Hearing Disorders 813
                  Hearing Loss 808
                    Deafness 382
                      nonsyndromic deafness 221
                        autosomal recessive nonsyndromic deafness 143
                          autosomal recessive nonsyndromic deafness 3 2
paths to the root