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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 3
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Accession:DOID:0110828 term browser browse the term
Definition:An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life. (DO)
Synonyms:exact_synonym: USH3;   Usher Syndrome, Type III
 xref: GARD:5442



show annotations for term's descendants           Sort by:
Usher syndrome type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN1 clarin 1 IAGP ClinVar Annotator: match by term: Usher Syndrome, Type III
ClinVar Annotator: match by term: Usher syndrome type 3
ClinVar PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
JBrowse link
G CLRN1-AS1 CLRN1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher Syndrome, Type III
ClinVar Annotator: match by term: Usher syndrome type 3
ClinVar PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:16028794 More... NCBI chr 3:150,972,678...151,080,726
Ensembl chr 3:150,852,484...151,080,726
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Usher Syndrome, Type III ClinVar PMID:28492532 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
Usher syndrome type 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN1 clarin 1 IAGP
ISS
EXP
ClinVar Annotator: match by term: Usher syndrome type 3A
OMIM:276902
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA
ClinVar Annotator: match by term: Usher syndrome, type 3A
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... RGD:634439 NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
JBrowse link
G CLRN1-AS1 CLRN1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome, type 3A
ClinVar Annotator: match by term: Usher syndrome type 3A
ClinVar PMID:12080385 PMID:12145752 PMID:14569126 PMID:16028794 PMID:18281613 More... NCBI chr 3:150,972,678...151,080,726
Ensembl chr 3:150,852,484...151,080,726
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Usher syndrome type 3A ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
Usher syndrome type 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DND1 DND microRNA-mediated repression inhibitor 1 IAGP ClinVar Annotator: match by term: Usher syndrome, type 3B ClinVar PMID:28492532 NCBI chr 5:140,670,794...140,673,576
Ensembl chr 5:140,670,794...140,673,576
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP
EXP
ClinVar Annotator: match by term: Usher syndrome, type 3B
ClinVar Annotator: match by term: Usher syndrome type 3B
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22279824 More... NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Usher syndrome, type 3B ClinVar PMID:28492532 NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305
JBrowse link
G LOC129994848 ATAC-STARR-seq lymphoblastoid active region 23285 IAGP ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    syndrome 17731
      Usher syndrome 222
        Usher syndrome type 3 7
          Usher syndrome type 3A 3
          Usher syndrome type 3B 4
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 3 7
                            Usher syndrome type 3A 3
                            Usher syndrome type 3B 4
paths to the root