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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 1J
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Accession:DOID:0110836 term browser browse the term
Definition:An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24. (DO)
Synonyms:exact_synonym: USH1J;   Usher syndrome 1J;   Usher syndrome type IJ
 primary_id: OMIM:614869
 alt_id: RDO:0012127



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Usher syndrome type 1J term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB2 calcium and integrin binding family member 2 IAGP
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Usher syndrome type 1J
OMIM
CTD
ClinVar
PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 More... NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    syndrome 17731
      Usher syndrome 222
        Usher syndrome type 1 17
          Usher syndrome type 1J 1
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 1 17
                            Usher syndrome type 1J 1
paths to the root