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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;   Nephrotic Syndrome, Idiopathic, Steroid-Resistant;   Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive;   SRN1;   STEROID-RESISTANT NEPHROTIC SYNDROME
 related_synonym: nephrotic syndrome type 2, susceptibility to
 primary_id: MESH:C536404
 alt_id: OMIM:600995
For additional species annotation, visit the Alliance of Genome Resources.


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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 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:14675423 PMID:14978175 PMID:15253708 PMID:15327385 PMID:17899208 PMID:18216321 PMID:18823551 PMID:19406966 PMID:20507940 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:22565185 PMID:22578956 PMID:23242530 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24413855 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25741868 PMID:26420286 PMID:26467025 PMID:26594346 PMID:28492532 PMID:28658201 PMID:30450462 PMID:32581362 NCBI chr13:73,950,422...74,025,237 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
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:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779 PMID:32581362 NCBI chr 3:22,037,812...22,061,247
Ensembl chr 3:22,038,357...22,058,871
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:600995
OMIM
ClinVar
CTD
PMID:8589695 PMID:8606597 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12464671 PMID:12608558 PMID:12644922 PMID:12649741 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14871423 PMID:14978175 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15322893 PMID:15327385 PMID:15338398 PMID:15496146 PMID:15627790 PMID:15769810 PMID:15817495 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16481888 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:16968734 PMID:17109732 PMID:17216259 PMID:17218332 PMID:17371932 PMID:17635752 PMID:17699384 PMID:17899208 PMID:17942774 PMID:17942957 PMID:18216321 PMID:18392643 PMID:18443213 PMID:18481113 PMID:18499321 PMID:18543005 PMID:18683072 PMID:18726620 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:19812541 PMID:20001346 PMID:20025681 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21125408 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22565185 PMID:22578956 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24033266 PMID:24072147 PMID:24089165 PMID:24227627 PMID:24413855 PMID:24500309 PMID:24509478 PMID:24519673 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25741868 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26248470 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:26594346 PMID:27766458 PMID:27885584 PMID:28204945 PMID:28385484 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:29049388 PMID:29382718 PMID:30241959 PMID:30260545 PMID:30450462 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32581362 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
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 chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr19:11,159,769...11,263,980
Ensembl chr19:11,159,774...11,263,980
JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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 chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9529364 PMID:9607189 PMID:10470095 PMID:10505700 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17853480 PMID:23497137 PMID:23715653 PMID:23935527 PMID:25501161 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27899157 PMID:28204945 PMID:28492532 PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      nephrotic syndrome 119
        familial nephrotic syndrome 44
          nephrotic syndrome type 2 17
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        urinary system disease 2074
          kidney disease 1860
            nephritis 425
              glomerulonephritis 372
                glomerulosclerosis 134
                  focal segmental glomerulosclerosis 104
                    nephrotic syndrome type 2 17
paths to the root