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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 2A
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Accession:DOID:0110838 term browser browse the term
Definition:An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. (DO)
Synonyms:exact_synonym: USH2A;   Usher syndrome, type IIA
 broad_synonym: USH2A-related disorder
 primary_id: MESH:C536490
 alt_id: OMIM:276901
 xref: GARD:5440
For additional species annotation, visit the Alliance of Genome Resources.


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Usher syndrome type 2A 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 2A ClinVar NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 PMID:24033266 PMID:25741868 PMID:27460420 PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar PMID:21681106 NCBI chr13:107,433,588...107,471,843
Ensembl chr13:107,433,588...107,471,843
JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2A OMIM
ClinVar
PMID:20440071 PMID:25741868 PMID:28492532 PMID:29048736 NCBI chr 1:264,776,393...264,796,206
Ensembl chr 1:264,776,398...264,794,938
JBrowse link
G Ush2a usherin susceptibility ISO ClinVar Annotator: match by term: Usher syndrome, type 2A
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:276901
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human)
OMIM
ClinVar
CTD
PMID:1968399 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:12786748 PMID:14676276 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15671307 PMID:15823922 PMID:16098008 PMID:16114888 PMID:16963483 PMID:17085681 PMID:17296898 PMID:17405132 PMID:18273898 PMID:18281613 PMID:18452394 PMID:18463160 PMID:18484607 PMID:18641288 PMID:18665192 PMID:18665195 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19788668 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301515 PMID:20309401 PMID:20440071 PMID:20497194 PMID:20507924 PMID:20513143 PMID:20591486 PMID:20596040 PMID:20613545 PMID:20801516 PMID:21147909 PMID:21151602 PMID:21174530 PMID:21228398 PMID:21234346 PMID:21569298 PMID:21593743 PMID:21681106 PMID:21686329 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22009552 PMID:22135276 PMID:22334370 PMID:22495311 PMID:22563300 PMID:22581970 PMID:22681893 PMID:22952768 PMID:23352160 PMID:23591405 PMID:23661368 PMID:23737954 PMID:23755871 PMID:23767834 PMID:23804846 PMID:23924366 PMID:23940504 PMID:23967202 PMID:23991284 PMID:24033266 PMID:24043777 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24164807 PMID:24265693 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24625443 PMID:24853665 PMID:24875298 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25133751 PMID:25211151 PMID:25252889 PMID:25261458 PMID:25262649 PMID:25268133 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25356976 PMID:25366773 PMID:25373420 PMID:25375654 PMID:25388789 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25445212 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25804404 PMID:25823529 PMID:25910913 PMID:25991456 PMID:25999674 PMID:26075083 PMID:26164827 PMID:26310143 PMID:26338283 PMID:26346818 PMID:26352687 PMID:26355662 PMID:26377068 PMID:26416264 PMID:26467025 PMID:26496393 PMID:26633545 PMID:26654877 PMID:26667666 PMID:26747767 PMID:26764160 PMID:26766544 PMID:26806561 PMID:26856745 PMID:26872967 PMID:26927203 PMID:26969326 PMID:26992781 PMID:27032803 PMID:27057829 PMID:27145477 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27344577 PMID:27353947 PMID:27460420 PMID:27583663 PMID:27596865 PMID:27624628 PMID:27957503 PMID:28000701 PMID:28005958 PMID:28041643 PMID:28127548 PMID:28157192 PMID:28181551 PMID:28224992 PMID:28281779 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28653555 PMID:28761320 PMID:28838317 PMID:28894305 PMID:28944237 PMID:28981474 PMID:28984810 PMID:29074561 PMID:29142287 PMID:29196752 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29551606 PMID:29588463 PMID:29625443 PMID:29641573 PMID:29767709 PMID:29899460 PMID:29912909 PMID:29953849 PMID:29986705 PMID:30029497 PMID:30190494 PMID:30245029 PMID:30280194 PMID:30311386 PMID:30459346 PMID:30543658 PMID:30718709 PMID:30872814 PMID:30948794 PMID:31877679, PMID:9624053, PMID:10729113 RGD:8547987, RGD:8547961 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Usher syndrome 50
        Usher syndrome type 2 13
          Usher syndrome type 2A 5
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 623
                Hearing Loss 618
                  Deafness 276
                    Deaf-Blind Disorders 58
                      Usher syndrome 50
                        Usher syndrome type 2 13
                          Usher syndrome type 2A 5
paths to the root