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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:Senior-Loken Syndrome 9
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Accession:DOID:9001693 term browser browse the term
Definition:An autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. (OMIM)
Synonyms:exact_synonym: SLSN9
 primary_id: OMIM:616629


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Senior-Loken Syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 9 OMIM
ClinVar		 PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 PMID:29068549 NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      Senior-Loken syndrome 20
        Senior-Loken Syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              optic nerve disease 373
                optic atrophy 191
                  Hereditary Optic Atrophies 82
                    Senior-Loken syndrome 20
                      Senior-Loken Syndrome 9 1
paths to the root