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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 3A
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Accession:DOID:0110841 term browser browse the term
Definition:An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25. (DO)
Synonyms:exact_synonym: USH3A;   Usher syndrome type IIIA
 primary_id: OMIM:276902
 alt_id: RDO:0008520



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Usher syndrome type 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN1 clarin 1 IAGP
EXP
ISS
ClinVar Annotator: match by term: Usher syndrome, type 3A
ClinVar Annotator: match by term: Usher syndrome type 3A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA
CTD Direct Evidence: marker/mechanism
OMIM:276902
OMIM
ClinVar
CTD
MouseDO
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

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
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
paths to the root