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ONTOLOGY REPORT - ANNOTATIONS


Term:nephrotic syndrome type 10
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Accession:DOID:0080386 term browser browse the term
Definition:A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: NPHS10
 primary_id: OMIM:615861
 alt_id: RDO:9001503
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nephrotic syndrome type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emp2 epithelial membrane protein 2 JBrowse link 10 5,433,248 5,467,840 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      nephrotic syndrome 109
        familial nephrotic syndrome 37
          nephrotic syndrome type 10 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      Urogenital Diseases 3980
        urinary system disease 2051
          kidney disease 1837
            proteinuria 522
              nephrosis 233
                nephrotic syndrome 109
                  familial nephrotic syndrome 37
                    nephrotic syndrome type 10 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.