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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


show annotations for term's descendants           Sort by:
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 chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:609823
ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition		 OMIM
CTD
MouseDO
ClinVar		 PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 PMID:24033266 More... NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474 		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 28 2
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 28 2
paths to the root