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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 1
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Accession:DOID:0110826 term browser browse the term
Definition:An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. (DO)
Synonyms:exact_synonym: US1;   USH1;   Usher Syndrome, Type I
 xref: NCI:C126327;   ORDO:231169


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Usher syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748 		JBrowse link
G C14H10orf105 chromosome 14 C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399 		JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr14:95,530,168...96,388,032 JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763 		JBrowse link
G USH1C USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1		 RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chr10:5,825,591...6,662,733 JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14H10orf105 chromosome 14 C10orf105 homolog ISO 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 chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022 		JBrowse link
G CDH23 cadherin related 23 ISO 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 ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G MYO7A myosin VIIA treatment ISO 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 OMIM
RGD
ClinVar		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... RGD:8694151 NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
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: 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 chr14:95,530,168...96,388,032 JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		JBrowse link
Usher syndrome type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 1C OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14H10orf105 chromosome 14 C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr14:95,530,168...96,388,032 JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763 		JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr14:74,667,081...74,693,347
Ensembl chr14:74,666,624...74,693,281 		JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr14:95,530,168...96,388,032 JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr14:95,530,168...96,388,032 JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: USH1G-related condition | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More... NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361 		JBrowse link
Usher syndrome type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 More... NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399 		JBrowse link
Usher Syndrome Type 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591 		JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr14:95,530,168...96,388,032 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Usher syndrome 68
        Usher syndrome type 1 12
          Usher Syndrome Type 1B 6
          Usher Syndrome Type 1M 1
          Usher syndrome type 1C 1
          Usher syndrome type 1D + 5
          Usher syndrome type 1E 0
          Usher syndrome type 1F + 2
          Usher syndrome type 1G 2
          Usher syndrome type 1H 0
          Usher syndrome type 1J 1
          Usher syndrome type 1K 0
Path 2
Term Annotations click to browse term
  disease 17412
    Pathological Conditions, Signs and Symptoms 11799
      Signs and Symptoms 9738
        Neurologic Manifestations 9418
          sensory system disease 6507
            Otorhinolaryngologic Diseases 1660
              auditory system disease 942
                Hearing Disorders 770
                  Hearing Loss 765
                    Deafness 369
                      Deaf-Blind Disorders 84
                        Usher syndrome 68
                          Usher syndrome type 1 12
                            Usher Syndrome Type 1B 6
                            Usher Syndrome Type 1M 1
                            Usher syndrome type 1C 1
                            Usher syndrome type 1D + 5
                            Usher syndrome type 1E 0
                            Usher syndrome type 1F + 2
                            Usher syndrome type 1G 2
                            Usher syndrome type 1H 0
                            Usher syndrome type 1J 1
                            Usher syndrome type 1K 0
paths to the root