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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 16058
    syndrome 6996
      nephrotic syndrome 116
        familial nephrotic syndrome 40
          nephrotic syndrome type 4 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        urinary system disease 2069
          kidney disease 1857
            proteinuria 500
              nephrosis 235
                nephrotic syndrome 116
                  familial nephrotic syndrome 40
                    nephrotic syndrome type 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.