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ONTOLOGY REPORT - ANNOTATIONS


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
 primary_id: OMIM:616893
 alt_id: DOID:9006260;   RDO:9000364
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nephrotic syndrome type 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup205 nucleoporin 205 JBrowse link 4 62,703,779 62,773,931 RGD:8554872
RGD:7240710
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      nephrotic syndrome 109
        familial nephrotic syndrome 36
          nephrotic syndrome type 13 2
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      Urogenital Diseases 3964
        urinary system disease 2039
          kidney disease 1826
            proteinuria 519
              nephrosis 233
                nephrotic syndrome 109
                  familial nephrotic syndrome 36
                    nephrotic syndrome type 13 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.