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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 97
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Accession:DOID:0110539 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31. (DO)
Synonyms:exact_synonym: DFNB97;   autosomal recessive deafness 97
 primary_id: OMIM:616705


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autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 97 ClinVar
OMIM		 PMID:12920089 PMID:19318576 PMID:19723643 PMID:20139696 PMID:21774103 More... NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    sensory system disease 6587
      Hearing Disorders 772
        Hearing Loss 767
          sensorineural hearing loss 582
            autosomal recessive nonsyndromic deafness 139
              autosomal recessive nonsyndromic deafness 97 1
Path 2
Term Annotations click to browse term
  disease 17774
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6587
            Otorhinolaryngologic Diseases 1672
              auditory system disease 948
                Hearing Disorders 772
                  Hearing Loss 767
                    Deafness 367
                      nonsyndromic deafness 215
                        autosomal recessive nonsyndromic deafness 139
                          autosomal recessive nonsyndromic deafness 97 1
paths to the root