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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 13
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Accession:DOID:0080381 term browser browse the term
Definition:A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33. (DO)
Synonyms:exact_synonym: NPHS13
 xref: MIM:616893;   MONDO:0014818


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nephrotic syndrome type 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup205 nucleoporin 205 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 13 OMIM
ClinVar		 PMID:25741868 PMID:26878725 PMID:28492532 NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      nephrotic syndrome 173
        familial nephrotic syndrome 53
          nephrotic syndrome type 13 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Urogenital Diseases 5376
        urinary system disease 2831
          kidney disease 2579
            proteinuria 587
              nephrosis 291
                nephrotic syndrome 173
                  familial nephrotic syndrome 53
                    nephrotic syndrome type 13 1
paths to the root