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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 dominant nonsyndromic deafness 73
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Accession:DOID:0080269 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21. (DO)
Synonyms:exact_synonym: DFNA73;   autosomal dominant deafness 73
 broad_synonym: PTPRQ-RELATED CONDITION
 primary_id: MIM:617663

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autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chrNW_004624750:17,621,520...17,863,902
Ensembl chrNW_004624750:17,622,627...17,863,899 		JBrowse link
G G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chr11:75,943,793...76,154,604
Ensembl chr11:75,943,260...76,154,083 		JBrowse link
G P PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334 		JBrowse link
G S Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chrNW_004936698:1,372,604...1,569,905
Ensembl chrNW_004936698:1,372,607...1,569,905 		JBrowse link
G D PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762 		JBrowse link
G B PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chr12:77,957,758...78,200,206
Ensembl chr12:81,068,545...81,310,857 		JBrowse link
G C Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chrNW_004955405:19,123,905...19,318,619
Ensembl chrNW_004955405:19,123,905...19,318,619 		JBrowse link
G R Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chr 7:44,720,916...44,903,291 JBrowse link
G M Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chr10:107,350,224...107,555,939
Ensembl chr10:107,352,910...107,555,912 		JBrowse link
G H PTPRQ protein tyrosine phosphatase receptor type Q IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 73
ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 253241
    sensory system disease 85286
      Hearing Disorders 8862
        Hearing Loss 8809
          sensorineural hearing loss 6621
            autosomal dominant nonsyndromic deafness 915
              autosomal dominant nonsyndromic deafness 73 10
Path 2
Term Annotations click to browse term
  disease 253241
    Pathological Conditions, Signs and Symptoms 173053
      Signs and Symptoms 133672
        Neurologic Manifestations 122162
          sensory system disease 85286
            Otorhinolaryngologic Diseases 19555
              auditory system disease 11148
                Hearing Disorders 8862
                  Hearing Loss 8809
                    Deafness 4112
                      nonsyndromic deafness 2346
                        autosomal dominant nonsyndromic deafness 915
                          autosomal dominant nonsyndromic deafness 73 10
paths to the root