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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: OMIM:602083;   RDO:0011990
For additional species annotation, visit the Alliance of Genome Resources.


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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 1F
ClinVar Annotator: match by term: Usher syndrome, type 1F
ClinVar Annotator: match by OMIM:602083
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11398101, PMID:11487575, PMID:12711741, PMID:14570705, PMID:15028842, PMID:15537665, PMID:15660226, PMID:16679490, PMID:16963483, PMID:18484607, PMID:18719945, PMID:19375528, PMID:19683999, PMID:19881469, PMID:20301515, PMID:21436283, PMID:21569298, PMID:22135276, PMID:22815625, PMID:22952768, PMID:22981120, PMID:23451239, PMID:23462753, PMID:23591405, PMID:23767834, PMID:23967202, PMID:24033266, PMID:24105371, PMID:24498627, PMID:24618850, PMID:24705292, PMID:24831256, PMID:24853665, PMID:24940003, PMID:25262649, PMID:25307757, PMID:25404053, PMID:25425308, PMID:25525159, PMID:25575603, PMID:25741868, PMID:25999675, PMID:26166082, PMID:26346818, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27058588, PMID:27068579, PMID:27208204, PMID:27440999, PMID:27460420, PMID:27610647, PMID:27743452, PMID:27766948, PMID:28000701, PMID:28281779, PMID:28492532, PMID:28900111, PMID:28968992, PMID:30311386, PMID:30459346 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
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:12075507, PMID:15537665, PMID:15660226, PMID:24033266 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
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 chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
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 1F 2
            Usher Syndrome, Type ID/F 2
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 1F 2
                            Usher Syndrome, Type ID/F 2
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.