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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 CONDITION;   USH1G-RELATED DISORDER;   USH1G-RELATED DISORDERS;   Usher syndrome type IG
 primary_id: MESH:C564643;   RDO:0011956
 alt_id: OMIM:606943


show annotations for term's descendants           Sort by:
Usher syndrome type 1G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: USH1G-related condition | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More... NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Usher syndrome 66
        Usher syndrome type 1 12
          Usher syndrome type 1G 2
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            Otorhinolaryngologic Diseases 1674
              auditory system disease 950
                Hearing Disorders 774
                  Hearing Loss 769
                    Deafness 369
                      Deaf-Blind Disorders 82
                        Usher syndrome 66
                          Usher syndrome type 1 12
                            Usher syndrome type 1G 2
paths to the root