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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:A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: NPHS15;   nephrotic syndrome 15
 primary_id: OMIM:617609


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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 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28492532 More... NCBI chr 4:14,386,389...15,870,036
Ensembl chr 4:14,386,399...15,870,240 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      nephrotic syndrome 172
        familial nephrotic syndrome 52
          nephrotic syndrome type 15 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        urinary system disease 2825
          kidney disease 2581
            proteinuria 586
              nephrosis 290
                nephrotic syndrome 172
                  familial nephrotic syndrome 52
                    nephrotic syndrome type 15 1
paths to the root