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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 18
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Accession:DOID:0080393 term browser browse the term
Definition:A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: NPHS18
 primary_id: OMIM:618177

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nephrotic syndrome type 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 18 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chrNW_004936484:20,185,558...20,230,904
Ensembl chrNW_004936484:20,185,584...20,231,352 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      nephrotic syndrome 166
        familial nephrotic syndrome 49
          nephrotic syndrome type 18 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Urogenital Diseases 4491
        urinary system disease 2276
          kidney disease 2063
            proteinuria 360
              nephrosis 275
                nephrotic syndrome 166
                  familial nephrotic syndrome 49
                    nephrotic syndrome type 18 1
paths to the root