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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 2D
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Accession:DOID:0110840 term browser browse the term
Definition:An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32. (DO)
Synonyms:exact_synonym: USH2D;   Usher Syndrome, Type IID
 primary_id: OMIM:611383;   RDO:0009522
For additional species annotation, visit the Alliance of Genome Resources.


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Usher syndrome type 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin ISO OMIM NCBI chrNW_004955419:13,116,001...13,207,266
Ensembl chrNW_004955419:13,116,001...13,207,266
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11834
    syndrome 5788
      Usher syndrome 45
        Usher syndrome type 2 11
          Usher syndrome type 2D 1
Path 2
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      nervous system disease 9331
        sensory system disease 4570
          Otorhinolaryngologic Diseases 1053
            auditory system disease 663
              Hearing Disorders 537
                Hearing Loss 532
                  Deafness 254
                    Deaf-Blind Disorders 52
                      Usher syndrome 45
                        Usher syndrome type 2 11
                          Usher syndrome type 2D 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.