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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
 xref: MIM:611383;   MONDO:0012662



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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
ISS
OMIM:611383
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D
OMIM
MouseDO
ClinVar
PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 More... NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      Usher syndrome 68
        Usher syndrome type 2 14
          Usher syndrome type 2D 1
Path 2
Term Annotations click to browse term
  disease 19076
    Pathological Conditions, Signs and Symptoms 13489
      Signs and Symptoms 11037
        Neurologic Manifestations 10284
          sensory system disease 7183
            Otorhinolaryngologic Diseases 1782
              auditory system disease 1039
                Hearing Disorders 827
                  Hearing Loss 822
                    Deafness 373
                      Deaf-Blind Disorders 84
                        Usher syndrome 68
                          Usher syndrome type 2 14
                            Usher syndrome type 2D 1
paths to the root