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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 3
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Accession:DOID:0080382 term browser browse the term
Definition:A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23. (DO)
Synonyms:exact_synonym: NPHS3;   early-onset nephrotic syndrome type 3
 primary_id: OMIM:610725
For additional species annotation, visit the Alliance of Genome Resources.


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nephrotic syndrome type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Noc3l NOC3-like DNA replication regulator ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3 ClinVar PMID:18975016 PMID:20591883 PMID:23595123 PMID:24130771 PMID:24247120 PMID:25741868 PMID:26668027 NCBI chr 1:257,469,538...257,498,844
Ensembl chr 1:257,469,538...257,498,844
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3
ClinVar Annotator: match by OMIM:610725
OMIM
ClinVar
PMID:17086182 PMID:18975016 PMID:20507940 PMID:20591883 PMID:22865593 PMID:23595123 PMID:24130771 PMID:24247120 PMID:24500309 PMID:24902943 PMID:25060053 PMID:25741868 PMID:26467025 PMID:26668027 PMID:27766458 PMID:28492532 PMID:28780565 PMID:31319225 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      nephrotic syndrome 120
        familial nephrotic syndrome 45
          nephrotic syndrome type 3 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Urogenital Diseases 4159
        urinary system disease 2074
          kidney disease 1858
            proteinuria 511
              nephrosis 241
                nephrotic syndrome 120
                  familial nephrotic syndrome 45
                    nephrotic syndrome type 3 2
paths to the root