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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 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Myo15a myosin XVA ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:600316
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
CTD
MouseDO
ClinVar		 PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 More... NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    sensory system disease 7035
      Hearing Disorders 821
        Hearing Loss 816
          sensorineural hearing loss 627
            autosomal recessive nonsyndromic deafness 143
              autosomal recessive nonsyndromic deafness 3 3
Path 2
Term Annotations click to browse term
  disease 18970
    Pathological Conditions, Signs and Symptoms 13384
      Signs and Symptoms 10875
        Neurologic Manifestations 10113
          sensory system disease 7035
            Otorhinolaryngologic Diseases 1741
              auditory system disease 995
                Hearing Disorders 821
                  Hearing Loss 816
                    Deafness 376
                      nonsyndromic deafness 217
                        autosomal recessive nonsyndromic deafness 143
                          autosomal recessive nonsyndromic deafness 3 3
paths to the root