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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 8
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Accession:DOID:0110527 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8;   DFNB10;   DFNB8;   Deafness, Autosomal Recessive 10;   Deafness, Autosomal Recessive 8/10;   NRSD8;   NSRD8;   Neurosensory Nonsyndromic Recessive Deafness 8;   TMPRSS3-RELATED CONDITION;   autosomal recessive deafness 8
 primary_id: MESH:C563395;   MESH:C565341;   OMIM:601072;   RDO:0012661
 alt_id: RDO:0008796;   RDO:0014006


show annotations for term's descendants           Sort by:
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmprss3 transmembrane serine protease 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: TMPRSS3-related condition		 OMIM
CTD
ClinVar		 PMID:3285355 PMID:9536098 PMID:11137999 PMID:11424922 PMID:11462234 More... NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      Hearing Disorders 820
        Hearing Loss 815
          sensorineural hearing loss 625
            autosomal recessive nonsyndromic deafness 142
              autosomal recessive nonsyndromic deafness 8 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            Otorhinolaryngologic Diseases 1735
              auditory system disease 992
                Hearing Disorders 820
                  Hearing Loss 815
                    Deafness 375
                      nonsyndromic deafness 216
                        autosomal recessive nonsyndromic deafness 142
                          autosomal recessive nonsyndromic deafness 8 1
paths to the root