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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 1B
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Accession:DOID:9003365 term browser browse the term
Synonyms:exact_synonym: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS;   USH1A;   USH1B;   USHER SYNDROME, TYPE I, FRENCH VARIETY;   Usher Syndrome Type IA;   Usher Syndrome Type IB
 primary_id: MESH:C536485;   MESH:C564755
 alt_id: OMIM:276900;   RDO:0002087;   RDO:0013610
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101965031 protocadherin-15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chrNW_004936910:233,800...602,145 JBrowse link
G Myo7a myosin VIIA treatment ISO OMIM
RGD
PMID:23991031 RGD:8694151 NCBI chrNW_004936498:5,758,572...5,824,526 JBrowse link
G Ush1c USH1 protein network component harmonin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD
ClinVar
PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:21436283, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30718709 NCBI chrNW_004936528:1,552,175...1,594,740 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11962
    syndrome 5860
      Usher syndrome 45
        Usher syndrome type 1 12
          Usher Syndrome Type 1B 3
Path 2
Term Annotations click to browse term
  disease 11962
    disease of anatomical entity 11526
      nervous system disease 9457
        sensory system disease 4631
          Otorhinolaryngologic Diseases 1070
            auditory system disease 666
              Hearing Disorders 541
                Hearing Loss 536
                  Deafness 260
                    Deaf-Blind Disorders 52
                      Usher syndrome 45
                        Usher syndrome type 1 12
                          Usher Syndrome Type 1B 3
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.