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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:retinitis pigmentosa-deafness syndrome
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Accession:DOID:0110829 term browser browse the term
Definition:An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.
Synonyms:exact_synonym: RETINITIS PIGMENTOSA 21;   RETINITIS PIGMENTOSA 8;   RP21;   RP8
 related_synonym: CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS
 primary_id: OMIM:500004
 alt_id: RDO:9002294
 xref: GARD:4684;   NCI:C126329;   ORDO:231183
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa-deafness syndrome 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: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 PMID:24033266 PMID:25474345 PMID:25741868 PMID:26969326 PMID:27018795 PMID:28492532 PMID:30029624 PMID:30718709 NCBI chr20:28,240,643...28,622,490 JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr18:28,381,649...28,398,699 JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:28,333,094...28,339,341 JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 NCBI chr 1:152,342,611...152,414,171 JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr20:13,997,094...15,496,446 JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:28,214,229...28,240,501 JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 1:96,695,303...96,743,671 JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr10:100,559,721...100,563,590 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr13:99,837,445...100,503,935 JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr20:28,281,582...28,307,262 JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30245029 NCBI chr 5:76,828,308...76,911,945 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    syndrome 8040
      Usher syndrome 56
        retinitis pigmentosa-deafness syndrome 11
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      nervous system disease 12095
        sensory system disease 5603
          Otorhinolaryngologic Diseases 1333
            auditory system disease 903
              Hearing Disorders 736
                Hearing Loss 732
                  Deafness 383
                    Deaf-Blind Disorders 66
                      Usher syndrome 56
                        retinitis pigmentosa-deafness syndrome 11
paths to the root