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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: Nephrotic syndrome, type 2, susceptibility to
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar PMID:8589695, PMID:10742096, PMID:11805166, PMID:12464671, PMID:12707396, PMID:14675423, PMID:14978175, PMID:15015071, PMID:15253708, PMID:15327385, PMID:15496146, PMID:15769810, PMID:15817495, PMID:17371932, PMID:17899208, PMID:18216321, PMID:18443213, PMID:18823551, PMID:19145239, PMID:19406966, PMID:20507940, PMID:20798252, PMID:20947785, PMID:21171529, PMID:21355056, PMID:21415313, PMID:22565185, PMID:22578956, PMID:23242530, PMID:23515051, PMID:23595123, PMID:23645318, PMID:24033266, PMID:24227627, PMID:24509478, PMID:24742477, PMID:24856380, PMID:25349199, PMID:25525159, PMID:25741868, PMID:26413278, PMID:26420286, PMID:26467025, PMID:26594346, PMID:26668027, PMID:28492532, PMID:28658201, PMID:29660491, PMID:30260545, 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: Nephrotic syndrome, type 2, susceptibility to
ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by OMIM:600995
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8589695, PMID:8606597, PMID:10742096, PMID:11729243, PMID:11733557, PMID:11805166, PMID:11805168, PMID:11854170, PMID:12464671, PMID:12608558, PMID:12644922, PMID:12649741, PMID:12707396, PMID:12776285, PMID:14570703, PMID:14675423, PMID:14701729, PMID:14871423, PMID:14978175, PMID:15015071, PMID:15042551, PMID:15059485, PMID:15253708, PMID:15322893, PMID:15327385, PMID:15338398, PMID:15496146, PMID:15504144, PMID:15627790, PMID:15769810, PMID:15780077, 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:18596732, 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:24500309, PMID:24509478, PMID:24511133, 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:26668027, PMID:26820844, PMID:27766458, PMID:27885584, PMID:28117080, PMID:28204945, PMID:28385484, PMID:28492532, PMID:28529802, PMID:28658201, PMID:28712774, PMID:29049388, PMID:29382718, PMID:29660491, PMID:30241959, PMID:30260545, 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 16023
    syndrome 7003
      nephrotic syndrome 119
        familial nephrotic syndrome 44
          nephrotic syndrome type 2 17
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        urinary system disease 2075
          kidney disease 1863
            nephritis 422
              glomerulonephritis 371
                glomerulosclerosis 131
                  focal segmental glomerulosclerosis 102
                    nephrotic syndrome type 2 17
paths to the root

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