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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 1D
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Accession:DOID:0110831 term browser browse the term
Definition:An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. (DO)
Synonyms:exact_synonym: USH1D;   Usher syndrome, type ID
 primary_id: MESH:C536487;   MESH:C563400
 alt_id: OMIM:601067



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Usher syndrome type 1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487
JBrowse link
G Cdh23 cadherin-related 23 ISO
ISS
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
OMIM:601067
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... RGD:8662279 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878
JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 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 chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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 chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      Usher syndrome 69
        Usher syndrome type 1 12
          Usher syndrome type 1D 5
            Usher Syndrome, Type ID/F 2
Path 2
Term Annotations click to browse term
  disease 21120
    Pathological Conditions, Signs and Symptoms 13299
      Signs and Symptoms 10784
        Neurologic Manifestations 10017
          sensory system disease 6930
            Otorhinolaryngologic Diseases 1723
              auditory system disease 984
                Hearing Disorders 812
                  Hearing Loss 807
                    Deafness 364
                      Deaf-Blind Disorders 82
                        Usher syndrome 69
                          Usher syndrome type 1 12
                            Usher syndrome type 1D 5
                              Usher Syndrome, Type ID/F 2
paths to the root