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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 8
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Accession:DOID:0080389 term browser browse the term
Definition:A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: NPHS8
 primary_id: OMIM:615244


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nephrotic syndrome type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgdia Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nephrotic syndrome, type 8		 OMIM
CTD
ClinVar		 PMID:23867502 PMID:25741868 PMID:28492532 NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023 		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 8 1
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 8 1
paths to the root