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ONTOLOGY REPORT - ANNOTATIONS
Term:nephrotic syndrome type 1
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Accession:DOID:0080390 term browser browse the term
Definition:A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: Congenital nephrotic syndrome 1;   Congenital nephrotic syndrome, Finnish type;   FINNISH CONGENITAL NEPHROTIC SYNDROME;   Finnish congenital nephrosis;   NPHS1;   Nephrosis 1, congenital, Finnish type;   idiopathic nephrotic syndrome
 primary_id: OMIM:256300
 alt_id: DOID:9005995;   RDO:0001053
 xref: GARD:1500;   ORDO:839
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nephrotic syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase JBrowse link 10 10,539,930 10,550,178 RGD:8554872
G Arhgdia Rho GDP dissociation inhibitor alpha JBrowse link 10 109,754,012 109,757,506 RGD:8554872
G Axdnd1 axonemal dynein light chain domain containing 1 JBrowse link 13 73,950,422 74,025,237 RGD:8554872
G Ccl11 C-C motif chemokine ligand 11 JBrowse link 10 69,434,965 69,439,566 RGD:7248412
G Kirrel2 kirre like nephrin family adhesion molecule 2 JBrowse link 1 88,909,829 88,921,154 RGD:8554872
G Nphs1 NPHS1 adhesion molecule, nephrin JBrowse link 1 88,922,346 88,950,560 RGD:737766
RGD:8554872
RGD:7240710
G Nphs2 NPHS2 stomatin family member, podocin JBrowse link 13 73,929,136 73,941,522 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      nephrotic syndrome 109
        familial nephrotic syndrome 36
          nephrotic syndrome type 1 8
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Urogenital Diseases 3965
        urinary system disease 2036
          kidney disease 1824
            proteinuria 519
              nephrosis 233
                nephrotic syndrome 109
                  familial nephrotic syndrome 36
                    nephrotic syndrome type 1 8
paths to the root

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