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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:lipoid nephrosis
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Accession:DOID:10966 term browser browse the term
Definition:A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA.
Synonyms:exact_synonym: Glomerulopathies, Minimal Change;   Idiopathic Minimal Change Nephrotic Syndrome;   Lipoid Nephroses;   Minimal Change Disease;   Minimal Change Diseases;   Minimal Change Glomerulonephritides;   Minimal Change Glomerulonephritis;   Minimal Change Glomerulopathy;   Minimal Change Nephropathies;   Minimal Change Nephropathy;   Minimal Change Nephrotic Syndrome;   nephrotic syndrome with lesion of minimal change glomerulonephritis;   nephrotic syndrome with lesion of minimal change nephrotic syndrome
 primary_id: MESH:D009402
 xref: EFO:1001020;   NCI:C34844;   NCI:C35540
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
lipoid nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A treatment IEP RGD PMID:24119646 RGD:10043363 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Il13 interleukin 13 IMP RGD PMID:17429054 RGD:2290347 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il17a interleukin 17A IEP Protein:increased expression:plasma (rat) RGD PMID:22772331 RGD:9068937 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Lgals1 galectin 1 IEP protein:decreased expression:glomerulus, podocytes (rat) RGD PMID:19079321 RGD:2316526 NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Lipoid nephrosis ClinVar PMID:23687361 PMID:32581362 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 disease_progression ISO RGD PMID:17890747 RGD:7174718 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 severity
no_association		 ISO DNA:polymorphism:3' utr:g.2964G>A (human)
DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)
DNA:polymorphism:3' utr:2964G>A (human)		 RGD PMID:12900808 PMID:19011907 PMID:15687724 RGD:7244138, RGD:7244144, RGD:7244146 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      nephrotic syndrome 173
        lipoid nephrosis 7
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Urogenital Diseases 5376
        urinary system disease 2831
          Urination Disorders 635
            proteinuria 587
              nephrosis 291
                nephrotic syndrome 173
                  lipoid nephrosis 7
paths to the root