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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 28
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Accession:DOID:0110486 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13. (DO)
Synonyms:exact_synonym: DFNB28;   TRIOBP-RELATED CONDITION;   autosomal recessive deafness 28
 primary_id: MESH:C565218
 alt_id: OMIM:609823
 xref: NCI:C129023

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autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:25741868 PMID:28492532 PMID:32109419 NCBI chrNW_004936665:1,821,580...2,029,839
Ensembl chrNW_004936665:1,821,583...2,030,371 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition OMIM
ClinVar		 PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 PMID:24033266 More... NCBI chrNW_004936492:3,337,791...3,390,420 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6279
      Hearing Disorders 732
        Hearing Loss 727
          sensorineural hearing loss 548
            autosomal recessive nonsyndromic deafness 135
              autosomal recessive nonsyndromic deafness 28 2
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6279
            Otorhinolaryngologic Diseases 1589
              auditory system disease 897
                Hearing Disorders 732
                  Hearing Loss 727
                    Deafness 355
                      nonsyndromic deafness 207
                        autosomal recessive nonsyndromic deafness 135
                          autosomal recessive nonsyndromic deafness 28 2
paths to the root