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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 84A
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Accession:DOID:0110529 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. (DO)
Synonyms:exact_synonym: DEAFNESS, AUTOSOMAL RECESSIVE 84;   DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION;   DFNB84;   DFNB84A;   autosomal recessive deafness 84A
 primary_id: OMIM:613391;   RDO:0009830
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive nonsyndromic deafness 84A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84 OMIM
ClinVar		 PMID:20346435 PMID:25741868 PMID:26467025 NCBI chr 7:42,837,109...43,016,917
Ensembl chr 7:42,837,109...43,016,917 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    sensory system disease 7131
      Hearing Disorders 860
        Hearing Loss 856
          sensorineural hearing loss 671
            autosomal recessive nonsyndromic deafness 121
              autosomal recessive nonsyndromic deafness 84A 1
Path 2
Term Annotations click to browse term
  disease 20983
    Pathological Conditions, Signs and Symptoms 13307
      Signs and Symptoms 10863
        Neurologic Manifestations 10111
          sensory system disease 7131
            Otorhinolaryngologic Diseases 1855
              auditory system disease 1120
                Hearing Disorders 860
                  Hearing Loss 856
                    Deafness 425
                      nonsyndromic deafness 290
                        autosomal recessive nonsyndromic deafness 121
                          autosomal recessive nonsyndromic deafness 84A 1
paths to the root