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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 2B
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Accession:DOID:9001128 term browser browse the term
Synonyms:exact_synonym: USHER SYNDROME, TYPE IIB
 primary_id: MESH:C536491;   RDO:0002093


show annotations for term's descendants           Sort by:
Usher Syndrome, Type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:14740321 PMID:15671307 PMID:19357117 PMID:22135276 PMID:22147658 More... NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      Usher syndrome 66
        Usher syndrome type 2 14
          Usher Syndrome, Type 2B 2
Path 2
Term Annotations click to browse term
  disease 17774
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6587
            Otorhinolaryngologic Diseases 1672
              auditory system disease 948
                Hearing Disorders 772
                  Hearing Loss 767
                    Deafness 367
                      Deaf-Blind Disorders 80
                        Usher syndrome 66
                          Usher syndrome type 2 14
                            Usher Syndrome, Type 2B 2
paths to the root