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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 4
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Accession:DOID:9000511 term browser browse the term
Synonyms:exact_synonym: SLSN4
 primary_id: MESH:C537581
 alt_id: OMIM:606996
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Senior-Loken Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by OMIM:606996
ClinVar Annotator: match by term: Senior-Loken syndrome 4
OMIM
ClinVar
PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    syndrome 8152
      Senior-Loken syndrome 13
        Senior-Loken Syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        peripheral nervous system disease 2559
          neuropathy 2355
            cranial nerve disease 484
              optic nerve disease 270
                optic atrophy 165
                  Hereditary Optic Atrophies 64
                    Senior-Loken syndrome 13
                      Senior-Loken Syndrome 4 1
paths to the root