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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 CONDITION;   USH2A-related disorder
 primary_id: MESH:C536490
 alt_id: OMIM:276901
 xref: GARD:5440


show annotations for term's descendants           Sort by:
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 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr 1:215,567,304...215,621,807
Ensembl chr 1:215,567,304...215,621,807 		JBrowse link
G LOC122152296 OCT4-NANOG hESC enhancer GRCh37_chr1:216419825-216420431 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A		 ClinVar PMID:10729113 PMID:10909849 PMID:15241801 PMID:16098008 PMID:16199547 More... NCBI chr 1:216,246,483...216,247,089 JBrowse link
G LOC126806009 MED14-independent group 3 enhancer GRCh37_chr1:216230868-216232067 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:25741868 NCBI chr 1:216,057,526...216,058,725 JBrowse link
G LOC132088648 Neanderthal introgressed variant-containing enhancer experimental_4209 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:25741868 NCBI chr 1:216,249,415...216,249,584 JBrowse link
G PDZD7 PDZ domain containing 7 IAGP
EXP		 ClinVar Annotator: match by term: Usher syndrome type 2A
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA		 OMIM
ClinVar
CTD		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295 		JBrowse link
G SFTPC surfactant protein C IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:25741868 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G USH2A usherin susceptibility IAGP
ISS
EXP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
OMIM:276901
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More... RGD:8547961, RGD:8547987 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A		 ClinVar PMID:9536098 PMID:9624053 PMID:10729113 PMID:10909849 PMID:11311042 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366 		JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A		 ClinVar PMID:9536098 PMID:10729113 PMID:10909849 PMID:16199547 PMID:17085681 More... NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Usher syndrome 222
        Usher syndrome type 2 31
          Usher syndrome type 2A 11
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            Otorhinolaryngologic Diseases 2281
              auditory system disease 1340
                Hearing Disorders 1140
                  Hearing Loss 1134
                    Deafness 651
                      Deaf-Blind Disorders 242
                        Usher syndrome 222
                          Usher syndrome type 2 31
                            Usher syndrome type 2A 11
paths to the root