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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 2
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Accession:DOID:0080379 term browser browse the term
Definition:A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. (DO)
Synonyms:exact_synonym: NPHS2;   NPHS2-RELATED CONDITION;   SRN1;   steroid-resistant nephrotic syndrome;   steroid-resistant nephrotic syndrome, autosomal recessive;   steroid-resistant nephrotic syndrome, familial idiopathic;   steroid-resistant nephrotic syndrome, idiopathic
 related_synonym: nephrotic syndrome type 2, susceptibility to
 xref: MESH:C536404;   MIM:600995;   MONDO:0010974


show annotations for term's descendants           Sort by:
nephrotic syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA5 annexin A5 ISO protein:increased expression:urine RGD PMID:17999093 RGD:7242031 NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972 		JBrowse link
G AVIL advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr12:31,108,569...31,129,307
Ensembl chr12:31,369,872...31,389,847 		JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 More... NCBI chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chr  X:97,538,978...97,797,019
Ensembl chr  X:108,008,689...108,166,095 		JBrowse link
G CRB2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 More... NCBI chr 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome ClinVar PMID:25615407 PMID:25741868 PMID:26905694 PMID:30862798 NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357 		JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome OMIM
ClinVar		 PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More... NCBI chr 1:155,038,753...155,064,332 JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:alternative form:blood, mononuclear cell RGD PMID:20419394 RGD:7174729 NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269 		JBrowse link
G NUP205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 7:127,525,777...127,620,680
Ensembl chr 7:140,037,092...140,118,983 		JBrowse link
G NUP93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr16:37,007,481...37,122,785
Ensembl chr16:56,140,546...56,255,561 		JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028 		JBrowse link
G PLA2G7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212 		JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO DNA:missense mutations, SNPs:exon, intron:multiple RGD PMID:21511817 RGD:7247446 NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595
Ensembl chr12:31,404,783...31,415,595 		JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
G XPO5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 6:43,114,408...43,168,113
Ensembl chr 6:44,406,765...44,458,029 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    syndrome 10732
      nephrotic syndrome 173
        familial nephrotic syndrome 49
          nephrotic syndrome type 2 20
Path 2
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      Urogenital Diseases 4921
        urinary system disease 2410
          kidney disease 2171
            Glomerular Diseases 358
              glomerulonephritis 351
                glomerulosclerosis 135
                  focal segmental glomerulosclerosis 122
                    nephrotic syndrome type 2 20
paths to the root