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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:Usher syndrome type 3B
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Accession:DOID:0110842 term browser browse the term
Definition:An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31. (DO)
Synonyms:exact_synonym: USH3B;   Usher Syndrome, Type IIIB
 primary_id: MIM:614504
 alt_id: RDO:9000848


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Usher syndrome type 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chrNW_004624743:33,421,810...33,424,515
Ensembl chrNW_004624743:33,421,810...33,424,635
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22279824 More... NCBI chrNW_004624743:33,424,705...33,435,767
Ensembl chrNW_004624743:33,423,342...33,435,721
JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chrNW_004624743:33,435,777...33,443,036
Ensembl chrNW_004624743:33,435,806...33,443,227
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    syndrome 9722
      Usher syndrome 62
        Usher syndrome type 3 5
          Usher syndrome type 3B 3
Path 2
Term Annotations click to browse term
  disease 14230
    Pathological Conditions, Signs and Symptoms 11246
      Signs and Symptoms 9467
        Neurologic Manifestations 9170
          sensory system disease 6536
            Otorhinolaryngologic Diseases 1622
              auditory system disease 955
                Hearing Disorders 753
                  Hearing Loss 748
                    Deafness 364
                      Deaf-Blind Disorders 75
                        Usher syndrome 62
                          Usher syndrome type 3 5
                            Usher syndrome type 3B 3
paths to the root