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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 104
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Accession:DOID:0110465 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22. (DO)
Synonyms:exact_synonym: DFNB104;   autosomal recessive deafness 104
 broad_synonym: RIPOR2-RELATED CONDITION
 primary_id: OMIM:616515
 xref: MONDO:0014675


show annotations for term's descendants           Sort by:
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Ripor2 RHO family interacting cell polarization regulator 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition		 OMIM
CTD
ClinVar		 PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:40,323,748...40,547,482
Ensembl chr17:40,323,867...40,548,092 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6960
      Hearing Disorders 820
        Hearing Loss 815
          sensorineural hearing loss 625
            autosomal recessive nonsyndromic deafness 141
              autosomal recessive nonsyndromic deafness 104 2
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13342
      Signs and Symptoms 10818
        Neurologic Manifestations 10052
          sensory system disease 6960
            Otorhinolaryngologic Diseases 1739
              auditory system disease 993
                Hearing Disorders 820
                  Hearing Loss 815
                    Deafness 374
                      nonsyndromic deafness 215
                        autosomal recessive nonsyndromic deafness 141
                          autosomal recessive nonsyndromic deafness 104 2
paths to the root