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 1D
Accession: DOID:0110831
browse the term
Definition: An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. (DO)
Synonyms: exact_synonym: USH1D; Usher syndrome, type ID
primary_id: MESH:C536487 ; MESH:C563400
alt_id: OMIM:601067
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AL353784.1
novel transcript, antisense to PCDH15
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar
PMID:25741868
NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
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C10orf105
chromosome 10 open reading frame 105
IAGP
ClinVar Annotator: match by term: Usher syndrome, type 1D ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar
PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:17850630 PMID:18273900 PMID:18429043 PMID:20146813 PMID:20613545 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22899989 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27610647 PMID:28492532 PMID:28847902 PMID:30303587 PMID:30311386 PMID:31445392 More...
NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
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CDH23
cadherin related 23
ISO IAGP ISS EXP
ClinVar Annotator: match by term: Usher syndrome type 1D OMIM:601067 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar MouseDO CTD OMIM RGD
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16281288 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18368581 PMID:18429043 PMID:18484607 PMID:19375528 PMID:19683999 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23794683 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25333064 PMID:25356970 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:25991456 PMID:26226137 PMID:26264712 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26633542 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27349180 PMID:27460420 PMID:27583405 PMID:27610647 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28383030 PMID:28483220 PMID:28492532 PMID:28501645 PMID:28847902 PMID:28912962 PMID:29048421 PMID:29148562 PMID:29343940 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:30733538 PMID:30774966 PMID:31054281 PMID:31152317 PMID:31231422 PMID:31445392 PMID:31541171 PMID:31546658 PMID:32467589 PMID:32747562 PMID:32991204 PMID:33095980 PMID:33576794 PMID:34906502 PMID:35020051 PMID:35186827 PMID:36011334 PMID:36672845 PMID:11138008 More...
RGD:8662279
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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CDH23-AS1
CDH23 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar
PMID:11138009 PMID:12075507 PMID:15537665 PMID:21940737 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30718709 More...
NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
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LOC111982869
Sharpr-MPRA regulatory region 2121
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:71,805,832...71,806,126
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PCDH15
protocadherin related 15
IAGP EXP
ClinVar Annotator: match by term: Usher syndrome, type 1D ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17576681 PMID:18484607 PMID:18719945 PMID:19375528 PMID:20301442 PMID:21436283 PMID:21569298 PMID:22135276 PMID:22815625 PMID:22981120 PMID:23451239 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24831256 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:25999675 PMID:26166082 PMID:26467025 PMID:26872967 PMID:27058588 PMID:27460420 PMID:27610647 PMID:27766948 PMID:28000701 PMID:28281779 PMID:28492532 PMID:28847902 PMID:29568747 PMID:29625443 PMID:30245029 PMID:30311386 PMID:30718709 PMID:34416374 More...
NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
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PSAP
prosaposin
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
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VSIR
V-set immunoregulatory receptor
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar
PMID:25741868
NCBI chr10:71,747,556...71,773,520
Ensembl chr10:71,747,556...71,773,520
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CDH23
cadherin related 23
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC
ClinVar
PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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CDH23-AS1
CDH23 antisense RNA 1
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC
ClinVar
PMID:11138009 PMID:12075507 PMID:15537665 PMID:21940737 PMID:28492532
NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
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PCDH15
protocadherin related 15
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC
ClinVar
PMID:15537665 PMID:15660226 PMID:24033266
NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
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