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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 23
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Accession:DOID:0112266 term browser browse the term
Definition:A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in KIRREL1 on chromosome 1q23.1. (DO)
Synonyms:exact_synonym: NPHS23
 primary_id: OMIM:619201
 alt_id: DOID:9005998
For additional species annotation, visit the Alliance of Genome Resources.



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nephrotic syndrome type 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kirrel1 kirre like nephrin family adhesion molecule 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 23 OMIM
ClinVar
PMID:31472902 NCBI chr 2:172,521,644...172,615,057
Ensembl chr 2:172,525,245...172,615,299
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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 23 1
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 23 1
paths to the root