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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



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 C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Usher syndrome, type 1B
ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,805,832...71,806,126 JBrowse link
G MYO7A myosin VIIA treatment IAGP
ISO
IDA
EXP
DNA:mutations: :multiple
DNA:nonsense mutation
ClinVar Annotator: match by term: Usher syndrome, type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Usher syndrome, type I, French variety
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... RGD:8694135, RGD:8694137, RGD:8694151, RGD:8694151, RGD:1581470 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
JBrowse link
G USH1C USH1 protein network component harmonin EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD
ClinVar
PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    syndrome 17731
      Usher syndrome 222
        Usher syndrome type 1 17
          Usher Syndrome Type 1B 8
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 1 17
                            Usher Syndrome Type 1B 8
paths to the root