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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 4
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Accession:DOID:0080383 term browser browse the term
Definition:A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13. (DO)
Synonyms:exact_synonym: NPHS4
 primary_id: OMIM:256370
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      nephrotic syndrome 149
        familial nephrotic syndrome 47
          nephrotic syndrome type 4 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Urogenital Diseases 4356
        urinary system disease 2143
          kidney disease 1923
            proteinuria 550
              nephrosis 268
                nephrotic syndrome 149
                  familial nephrotic syndrome 47
                    nephrotic syndrome type 4 1
paths to the root