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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 chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,768...255,095,223
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12649
    syndrome 6136
      Usher syndrome 49
        Usher syndrome type 2 12
          Usher syndrome type 2D 1
Path 2
Term Annotations click to browse term
  disease 12649
    disease of anatomical entity 12188
      nervous system disease 9948
        sensory system disease 4803
          Otorhinolaryngologic Diseases 1122
            auditory system disease 705
              Hearing Disorders 575
                Hearing Loss 570
                  Deafness 268
                    Deaf-Blind Disorders 57
                      Usher syndrome 49
                        Usher syndrome type 2 12
                          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.