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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



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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 IAGP
EXP
ISS
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID
ClinVar Annotator: match by term: Usher syndrome, type 2D
ClinVar Annotator: match by term: Usher syndrome type 2D
CTD Direct Evidence: marker/mechanism
OMIM:611383
ClinVar
OMIM
CTD
MouseDO
PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 More... NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    syndrome 17731
      Usher syndrome 222
        Usher syndrome type 2 31
          Usher syndrome type 2D 1
Path 2
Term Annotations click to browse term
  disease 40721
    Pathological Conditions, Signs and Symptoms 20960
      Signs and Symptoms 16039
        Neurologic Manifestations 15108
          sensory system disease 9668
            Otorhinolaryngologic Diseases 2265
              auditory system disease 1331
                Hearing Disorders 1131
                  Hearing Loss 1125
                    Deafness 635
                      Deaf-Blind Disorders 239
                        Usher syndrome 222
                          Usher syndrome type 2 31
                            Usher syndrome type 2D 1
paths to the root