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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 1G
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Accession:DOID:0110834 term browser browse the term
Definition:An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: USH1G;   USH1G-RELATED DISORDER;   USH1G-RELATED DISORDERS;   Usher syndrome type IG
 primary_id: MESH:C564643;   RDO:0011956
 alt_id: OMIM:606943
For additional species annotation, visit the Alliance of Genome Resources.


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Usher syndrome type 1G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otop2 otopetrin 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1G ClinVar PMID:15660226, PMID:17896313, PMID:22135276, PMID:24033266, PMID:25741868, PMID:28224992, PMID:28492532 NCBI chr10:103,874,383...103,883,953
Ensembl chr10:103,874,383...103,883,953
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome, type 1G ClinVar PMID:12711741, PMID:15028842, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome, type 1G
ClinVar Annotator: match by term: USH1G-Related Disorders
OMIM
ClinVar
PMID:11941484, PMID:12588794, PMID:15660226, PMID:17896313, PMID:21044053, PMID:22135276, PMID:23591405, PMID:24033266, PMID:25255398, PMID:25741868, PMID:26467025, PMID:26878454, PMID:27068579, PMID:27353947, PMID:28224992, PMID:28492532 NCBI chr10:103,866,566...103,873,416
Ensembl chr10:103,869,377...103,873,246
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Usher syndrome 50
        Usher syndrome type 1 12
          Usher syndrome type 1G 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          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 1 12
                          Usher syndrome type 1G 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.