Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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.

show annotations for term's descendants           Sort by:
Usher syndrome type 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WHRN whirlin IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID
ClinVar Annotator: match by term: Usher syndrome, type 2D
PMID:15841483, PMID:17171570, PMID:20352026, PMID:21569298, PMID:21654738, PMID:22135276, PMID:22147658, PMID:23804846, PMID:24033266, PMID:25262649, PMID:25404053, PMID:25468891, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30245029 NCBI chr 9:114,402,078...114,505,500
Ensembl chr 9:114,402,080...114,505,473
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    syndrome 7887
      Usher syndrome 85
        Usher syndrome type 2 17
          Usher syndrome type 2D 1
Path 2
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17349
      nervous system disease 13439
        sensory system disease 5735
          Otorhinolaryngologic Diseases 1307
            auditory system disease 836
              Hearing Disorders 685
                Hearing Loss 679
                  Deafness 335
                    Deaf-Blind Disorders 93
                      Usher syndrome 85
                        Usher syndrome type 2 17
                          Usher syndrome type 2D 1
paths to the root


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