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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 6
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Accession:DOID:0080384 term browser browse the term
Definition:A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12. (DO)
Synonyms:exact_synonym: NPHS6
 primary_id: OMIM:614196
For additional species annotation, visit the Alliance of Genome Resources.


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nephrotic syndrome type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpro protein tyrosine phosphatase, receptor type, O ISO ClinVar Annotator: match by This custom term has been created by RGD curators. OMIM
ClinVar
PMID:21722858 NCBI chr 4:171,250,766...171,461,571
Ensembl chr 4:171,250,818...171,461,677
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      nephrotic syndrome 119
        familial nephrotic syndrome 44
          nephrotic syndrome type 6 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        urinary system disease 2074
          kidney disease 1860
            proteinuria 508
              nephrosis 239
                nephrotic syndrome 119
                  familial nephrotic syndrome 44
                    nephrotic syndrome type 6 1
paths to the root