Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:nephrotic syndrome type 17
go back to main search page
Accession:DOID:0080392 term browser browse the term
Definition:A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: NPHS17
 primary_id: OMIM:618176
 alt_id: DOID:9009247
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
nephrotic syndrome type 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 JBrowse link 10 104,137,655 104,156,576 RGD:8554872
G Nup85 nucleoporin 85 JBrowse link 10 104,118,999 104,137,258 RGD:8554872
RGD:7240710

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 17 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 17 2
paths to the root

NHLBI Logo

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