Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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 More... NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3 OMIM
ClinVar
PMID:17086182 PMID:18975016 PMID:20507940 PMID:20591883 PMID:22865593 More... NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      nephrotic syndrome 165
        familial nephrotic syndrome 48
          nephrotic syndrome type 3 2
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Urogenital Diseases 4703
        urinary system disease 2393
          kidney disease 2163
            proteinuria 567
              nephrosis 283
                nephrotic syndrome 165
                  familial nephrotic syndrome 48
                    nephrotic syndrome type 3 2
paths to the root