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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 7
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Accession:DOID:0080388 term browser browse the term
Definition:A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. (DO)
Synonyms:exact_synonym: Ig-mediated MPGN;   Ig-mediated membranoproliferative glomerulonephritis;   Immunoglobulin-mediated MPGN;   NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS;   NPHS7;   immunoglobulin-mediated membranoproliferative glomerulonephritis;   nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis
 narrow_synonym: AHUS, SUSCEPTIBILITY TO, 7;   AHUS7;   NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
 primary_id: OMIM:615008
 xref: ORDO:329903
For additional species annotation, visit the Alliance of Genome Resources.

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nephrotic syndrome type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by OMIM:615008
ClinVar Annotator: match by term: Nephrotic syndrome, type 7		 OMIM
ClinVar		 PMID:23274426 PMID:23542698 PMID:24747643 PMID:25741868 PMID:29590070 PMID:30311386 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      nephrotic syndrome 119
        familial nephrotic syndrome 44
          nephrotic syndrome type 7 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Urogenital Diseases 4175
        urinary system disease 2087
          kidney disease 1874
            nephritis 424
              glomerulonephritis 371
                mesangial proliferative glomerulonephritis 49
                  Chronic Mesangial Proliferative Glomerulonephritis 41
                    membranoproliferative glomerulonephritis 39
                      nephrotic syndrome type 7 1
paths to the root