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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:RHYNS Syndrome
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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.


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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:18327255 PMID:19466712 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      RHYNS Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          eye disease 2732
            eye degenerative disease 508
              retinal degeneration 506
                fundus dystrophy 372
                  retinitis pigmentosa 301
                    RHYNS Syndrome 1
paths to the root