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 1C
go back to main search page
Accession:DOID:0110830 term browser browse the term
Definition:An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: USH1C;   Usher syndrome type I Acadian variety;   Usher syndrome type IC;   Usher syndrome, Acadian variety
 primary_id: MESH:C536486;   MESH:C564753
 alt_id: OMIM:276904
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Usher syndrome type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by OMIM:276904
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Usher syndrome, type 1C
PMID:9760205, PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12136232, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:16679490, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:20142502, PMID:20146813, PMID:20301442, PMID:20671281, PMID:21203349, PMID:21436283, PMID:21487335, PMID:21569298, PMID:22135276, PMID:22581970, PMID:23251578, PMID:23380860, PMID:23967202, PMID:24033266, PMID:24154662, PMID:24416283, PMID:24498627, PMID:24618850, PMID:25262649, PMID:25333064, PMID:25356976, PMID:25468891, PMID:25525159, PMID:25560255, PMID:25741868, PMID:25788563, PMID:26445815, PMID:26467025, PMID:26944241, PMID:26969326, PMID:27208204, PMID:27440999, PMID:27460420, PMID:27743452, PMID:27957503, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30245029, PMID:30718709, PMID:10973247 RGD:1600453 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Usher syndrome 50
        Usher syndrome type 1 12
          Usher syndrome type 1C 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 623
                Hearing Loss 618
                  Deafness 276
                    Deaf-Blind Disorders 58
                      Usher syndrome 50
                        Usher syndrome type 1 12
                          Usher syndrome type 1C 1
paths to the root


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