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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 1F
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Accession:DOID:0110832 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 PCDH15 gene on chromosome 10q. (DO)
Synonyms:exact_synonym: USH1F;   Usher syndrome type IF
 primary_id: MESH:C536489;   MESH:C566586;   RDO:0002091
 alt_id: MIM:602083;   RDO:0011990

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Usher syndrome type 1F 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 IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103216037 cadherin-23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15394
    syndrome 10373
      Usher syndrome 64
        Usher syndrome type 1 12
          Usher syndrome type 1F 2
            Usher Syndrome, Type ID/F 2
Path 2
Term Annotations click to browse term
  disease 15394
    Pathological Conditions, Signs and Symptoms 12058
      Signs and Symptoms 10132
        Neurologic Manifestations 9808
          sensory system disease 6905
            Otorhinolaryngologic Diseases 1699
              auditory system disease 992
                Hearing Disorders 780
                  Hearing Loss 774
                    Deafness 370
                      Deaf-Blind Disorders 79
                        Usher syndrome 64
                          Usher syndrome type 1 12
                            Usher syndrome type 1F 2
                              Usher Syndrome, Type ID/F 2
paths to the root