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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 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;   congenital nephrosis 1, Finnish type;   idiopathic nephrotic syndrome
 primary_id: OMIM:256300
 xref: GARD:1500;   NCI:C122795;   ORDO:839
For additional species annotation, visit the Alliance of Genome Resources.


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nephrotic syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:14709599, PMID:14973778, PMID:14973782, PMID:20679665, PMID:22966035, PMID:24033266, PMID:25741868, PMID:25956699, PMID:26931382, PMID:27172925, PMID:27325525, PMID:28492532, PMID:28554332 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL ClinVar PMID:25741868 NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695, PMID:10742096, PMID:11805166, PMID:12464671, PMID:14675423, PMID:14978175, PMID:15015071, PMID:15253708, PMID:15327385, PMID:15496146, PMID:15769810, PMID:15817495, PMID:16354237, PMID:16898497, PMID:17371932, PMID:17899208, PMID:18216321, PMID:18443213, PMID:18823551, PMID:19145239, PMID:19406966, PMID:19876656, PMID:20507940, PMID:20947785, PMID:21171529, PMID:21355056, PMID:21415313, PMID:22565185, PMID:22578956, PMID:23242530, PMID:23349334, PMID:23515051, PMID:23595123, PMID:23645318, PMID:24033266, PMID:24227627, PMID:24509478, PMID:24742477, PMID:24856380, PMID:25349199, PMID:25525159, PMID:25741868, PMID:26211502, PMID:26420286, PMID:26467025, PMID:26594346, PMID:26668027, PMID:28492532, PMID:28658201, PMID:29982877, PMID:30260545, PMID:32581362 NCBI chr13:73,950,422...74,025,237 JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:9892814 RGD:7248412 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar PMID:15338398, PMID:20172850, PMID:25741868, PMID:26467025, PMID:28117080, PMID:28492532 NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO DNA:mutations:multiple (human) RGD PMID:11317351 RGD:737766 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695, PMID:8606597, PMID:10742096, PMID:11729243, PMID:11805166, PMID:11854170, PMID:12464671, PMID:12649741, PMID:12707396, PMID:14570703, PMID:14675423, PMID:14978175, PMID:15015071, PMID:15042551, PMID:15059485, PMID:15253708, PMID:15322893, PMID:15327385, PMID:15496146, PMID:15769810, PMID:15817495, PMID:16354237, PMID:16810518, PMID:16898497, PMID:17218332, PMID:17371932, PMID:17899208, PMID:18216321, PMID:18380020, PMID:18443213, PMID:18823551, PMID:19067903, PMID:19145239, PMID:19371226, PMID:19406966, PMID:19674119, PMID:19876656, PMID:20001346, PMID:20507940, PMID:20798252, PMID:20947785, PMID:21125408, PMID:21171529, PMID:21355056, PMID:21415313, PMID:21636722, PMID:22565185, PMID:22578956, PMID:23013956, PMID:23242530, PMID:23349334, PMID:23515051, PMID:23595123, PMID:23645318, PMID:24033266, PMID:24072147, PMID:24089165, PMID:24227627, PMID:24500309, PMID:24509478, PMID:24742477, PMID:24856380, PMID:25349199, PMID:25525159, PMID:25720465, PMID:25741868, PMID:25852895, PMID:25903641, PMID:26211502, PMID:26420286, PMID:26467025, PMID:26467726, PMID:26594346, PMID:26668027, PMID:28204945, PMID:28385484, PMID:28492532, PMID:28658201, PMID:29049388, PMID:29382718, PMID:29982877, PMID:30260545, PMID:30655312, PMID:32581362 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar PMID:18414213, PMID:21258341, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      nephrotic syndrome 115
        familial nephrotic syndrome 40
          nephrotic syndrome type 1 9
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Urogenital Diseases 4142
        urinary system disease 2069
          kidney disease 1857
            proteinuria 504
              nephrosis 234
                nephrotic syndrome 115
                  familial nephrotic syndrome 40
                    nephrotic syndrome type 1 9
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.