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
Accession: DOID:0110828
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
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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 PMID:14569126 PMID:15521980 PMID:16028794 PMID:17407589 PMID:17576681 PMID:17893653 PMID:18281613 PMID:19423712 PMID:19753315 PMID:20717163 PMID:21675857 PMID:22135276 PMID:22681893 PMID:22787034 PMID:22952768 PMID:23304067 PMID:24033266 PMID:24498627 PMID:24596593 PMID:25268133 PMID:25741868 PMID:25743179 PMID:26180195 PMID:26338283 PMID:27460420 PMID:27610647 PMID:28041643 PMID:28224992 PMID:28471114 PMID:28492532 PMID:29545425 PMID:30311386 PMID:31097578 PMID:31213501 PMID:31836858 PMID:31960602 PMID:31963381 PMID:34906470 PMID:35481838 More...
NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
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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 PMID:18281613 PMID:19423712 PMID:19753315 PMID:22135276 PMID:22787034 PMID:24033266 PMID:24498627 PMID:25741868 PMID:26180195 PMID:28041643 PMID:28492532 PMID:30311386 PMID:34906470 More...
NCBI chr 3:150,972,678...151,080,726
Ensembl chr 3:150,852,484...151,080,726
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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
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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 PMID:15521980 PMID:16028794 PMID:17407589 PMID:17893653 PMID:18281613 PMID:19423712 PMID:19753315 PMID:21310491 PMID:22135276 PMID:22681893 PMID:22787034 PMID:22952768 PMID:23304067 PMID:24033266 PMID:24498627 PMID:24596593 PMID:25268133 PMID:25741868 PMID:25743179 PMID:26180195 PMID:26338283 PMID:26467025 PMID:27460420 PMID:27610647 PMID:28041643 PMID:28224992 PMID:28471114 PMID:28492532 PMID:29545425 PMID:30311386 PMID:31097578 PMID:31213501 PMID:31836858 PMID:31960602 PMID:31963381 PMID:34906470 PMID:35481838 PMID:12145752 More...
RGD:634439
NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
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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 PMID:19423712 PMID:19753315 PMID:21310491 PMID:22135276 PMID:22787034 PMID:24033266 PMID:25741868 PMID:26180195 PMID:28041643 PMID:28492532 PMID:34906470 More...
NCBI chr 3:150,972,678...151,080,726
Ensembl chr 3:150,852,484...151,080,726
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USH2A
usherin
IAGP
ClinVar Annotator: match by term: Usher syndrome type 3A
ClinVar
PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 PMID:18273898 PMID:18463160 PMID:18641288 PMID:19683999 PMID:19881469 PMID:20507924 PMID:21569298 PMID:22135276 PMID:24033266 PMID:25262649 PMID:25333064 PMID:25575603 PMID:25649381 PMID:25741868 PMID:26927203 PMID:27460420 PMID:28041643 PMID:28492532 PMID:28944237 PMID:29293505 PMID:30718709 PMID:31817543 PMID:34906470 More...
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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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
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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 PMID:22930593 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26072516 PMID:26752306 PMID:27353947 PMID:28492532 PMID:28632987 PMID:29235198 PMID:29790872 PMID:31028937 PMID:31211171 PMID:32333447 PMID:32543048 PMID:34445196 PMID:34813128 More...
NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
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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
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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
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