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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 70
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Accession:DOID:0110521 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16. (DO)
Synonyms:exact_synonym: DFNB70;   autosomal recessive deafness 70;   autosomal recessive deafness 70, with or without adult-onset neurodegeneration
 primary_id: MIM:614934

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autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 70 OMIM
ClinVar		 PMID:11080643 PMID:23084290 PMID:23084291 PMID:24088041 PMID:25326635 More... NCBI chrNW_004624833:5,883,300...5,923,758
Ensembl chrNW_004624833:5,883,318...5,923,758 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14093
    sensory system disease 6227
      Hearing Disorders 724
        Hearing Loss 719
          sensorineural hearing loss 542
            autosomal recessive nonsyndromic deafness 136
              autosomal recessive nonsyndromic deafness 70 1
Path 2
Term Annotations click to browse term
  disease 14093
    Pathological Conditions, Signs and Symptoms 11033
      Signs and Symptoms 9160
        Neurologic Manifestations 8868
          sensory system disease 6227
            Otorhinolaryngologic Diseases 1564
              auditory system disease 885
                Hearing Disorders 724
                  Hearing Loss 719
                    Deafness 352
                      nonsyndromic deafness 204
                        autosomal recessive nonsyndromic deafness 136
                          autosomal recessive nonsyndromic deafness 70 1
paths to the root