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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 99
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Accession:DOID:0111634 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. (DO)
Synonyms:exact_synonym: DFNB99;   autosomal recessive deafness 99
 primary_id: OMIM:618481

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autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM132E transmembrane protein 132E ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 99 OMIM
ClinVar		 PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr16:28,084,059...28,143,654
Ensembl chr16:28,130,442...28,142,561 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    sensory system disease 6596
      Hearing Disorders 758
        Hearing Loss 752
          sensorineural hearing loss 571
            autosomal recessive nonsyndromic deafness 139
              autosomal recessive nonsyndromic deafness 99 1
Path 2
Term Annotations click to browse term
  disease 15274
    Pathological Conditions, Signs and Symptoms 11821
      Signs and Symptoms 9800
        Neurologic Manifestations 9482
          sensory system disease 6596
            Otorhinolaryngologic Diseases 1644
              auditory system disease 931
                Hearing Disorders 758
                  Hearing Loss 752
                    Deafness 364
                      nonsyndromic deafness 210
                        autosomal recessive nonsyndromic deafness 139
                          autosomal recessive nonsyndromic deafness 99 1
paths to the root