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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: RHYNS;   Retinitis pigmentosa syndrome;   Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia
 xref: MESH:C537612;   MIM:602152;   MONDO:0011202


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: RETINITIS PIGMENTOSA, HYPOPITUITARISM, NEPHRONOPHTHISIS, AND MILD SKELETAL DYSPLASIA | ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome OMIM
ClinVar		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11436
      RHYNS Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19150
    Pathological Conditions, Signs and Symptoms 13669
      Signs and Symptoms 11239
        Neurologic Manifestations 10484
          sensory system disease 7403
            eye disease 3738
              retinal disease 1467
                retinal degeneration 929
                  fundus dystrophy 785
                    retinitis pigmentosa 607
                      RHYNS Syndrome 1
paths to the root