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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 Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:12384774 PMID:25741868 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243 		JBrowse link
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:19406966 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 Pros1 protein S ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:11127877 PMID:11858485 PMID:20880255 PMID:24014240 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134 		JBrowse link
G Spink1 serine peptidase inhibitor, Kazal type 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:10691414 PMID:10835640 PMID:12011155 PMID:12187509 PMID:12483248 PMID:12629264 PMID:12743777 PMID:12853682 PMID:16885867 PMID:17204147 PMID:17466744 PMID:17525091 PMID:17568390 PMID:18286680 PMID:18414673 PMID:18617776 PMID:19299380 PMID:19453252 PMID:19565042 PMID:19888199 PMID:21303407 PMID:21375584 PMID:22427236 PMID:22749696 PMID:22995991 PMID:23741238 PMID:23951356 PMID:24033266 PMID:24522117 PMID:24844923 PMID:25010710 PMID:25206283 PMID:25741868 PMID:27535533 PMID:28492532 PMID:28546062 PMID:28556356 PMID:28609377 PMID:28984793 PMID:30311386 NCBI chr18:38,221,919...38,242,092
Ensembl chr18:38,221,681...38,242,119 		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 16085
    syndrome 7041
      nephrotic syndrome 119
        familial nephrotic syndrome 44
          nephrotic syndrome type 1 12
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Urogenital Diseases 4175
        urinary system disease 2087
          kidney disease 1874
            proteinuria 516
              nephrosis 239
                nephrotic syndrome 119
                  familial nephrotic syndrome 44
                    nephrotic syndrome type 1 12
paths to the root