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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;   PLCE1-RELATED CONDITION;   early-onset nephrotic syndrome type 3
 primary_id: OMIM:610725


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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 Annotator: match by term: PLCE1-related condition ClinVar PMID:17086182 PMID:18975016 PMID:20591883 PMID:23595123 PMID:24130771 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 | ClinVar Annotator: match by term: PLCE1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17086182 PMID:18709391 PMID:18975016 PMID:20507940 PMID:20591883 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 18969
    syndrome 10888
      nephrotic syndrome 172
        familial nephrotic syndrome 52
          nephrotic syndrome type 3 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        urinary system disease 2830
          kidney disease 2586
            proteinuria 586
              nephrosis 290
                nephrotic syndrome 172
                  familial nephrotic syndrome 52
                    nephrotic syndrome type 3 2
paths to the root