Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:RHYNS Syndrome
go back to main search page
Accession:DOID:9005786 term browser browse the term
Synonyms:exact_synonym: Retinitis pigmentosa syndrome;   Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia
 primary_id: MESH:C537612;   RDO:0003482
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
RHYNS Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: RHYNS syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa syndrome
ClinVar PMID:9375913, PMID:17377820, PMID:17397051, PMID:19508969, PMID:21866095, PMID:23559409, PMID:25741868, PMID:25920555, PMID:26092869, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      RHYNS Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          eye disease 2665
            eye degenerative disease 470
              retinal degeneration 468
                fundus dystrophy 339
                  retinitis pigmentosa 270
                    RHYNS Syndrome 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.