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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:615244 OMIM
ClinVar
PMID:23867502 NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      nephrotic syndrome 119
        familial nephrotic syndrome 44
          nephrotic syndrome type 8 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Urogenital Diseases 4175
        urinary system disease 2087
          kidney disease 1874
            proteinuria 516
              nephrosis 239
                nephrotic syndrome 119
                  familial nephrotic syndrome 44
                    nephrotic syndrome type 8 1
paths to the root