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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 15
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Accession:DOID:0080271 term browser browse the term
Definition:An autosomal recessive renal disorder characterized by onset of impaired kidney function with proteinuria in the first months of life. The disease course and severity varies widely. (OMIM)
Synonyms:exact_synonym: nephrotic syndrome 15
 related_synonym: NPHS15
 primary_id: OMIM:617609
For additional species annotation, visit the Alliance of Genome Resources.


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nephrotic syndrome type 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME 15
ClinVar Annotator: match by term: Nephrotic syndrome type 15
ClinVar
OMIM
PMID:25741868 PMID:27932480 NCBI chr 4:10,995,241...12,472,423
Ensembl chr 4:10,995,234...11,610,518
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      nephrotic syndrome 119
        familial nephrotic syndrome 44
          nephrotic syndrome type 15 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        urinary system disease 2074
          kidney disease 1860
            proteinuria 508
              nephrosis 239
                nephrotic syndrome 119
                  familial nephrotic syndrome 44
                    nephrotic syndrome type 15 1
paths to the root