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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:nephrotic syndrome type 17
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Accession:DOID:0080392 term browser browse the term
Definition:A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: NPHS17
 primary_id: OMIM:618176
For additional species annotation, visit the Alliance of Genome Resources.



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nephrotic syndrome type 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 17 ClinVar PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr10:100,825,426...100,844,462
Ensembl chr10:100,825,426...100,844,462
JBrowse link
G Nup85 nucleoporin 85 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 17 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr10:100,806,482...100,825,029
Ensembl chr10:100,806,437...100,825,043
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      nephrotic syndrome 165
        familial nephrotic syndrome 48
          nephrotic syndrome type 17 2
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      Urogenital Diseases 4704
        urinary system disease 2394
          kidney disease 2164
            proteinuria 567
              nephrosis 283
                nephrotic syndrome 165
                  familial nephrotic syndrome 48
                    nephrotic syndrome type 17 2
paths to the root