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nephrotic syndrome type 1 - Ontology Report - Rat Genome Database

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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 nephrosis;   Finnish congenital nephrotic syndrome;   NPHS1;   NPHS1-RELATED CONDITION;   congenital nephrosis 1, Finnish type;   idiopathic nephrotic syndrome
 primary_id: MIM:256300
 xref: GARD:1500;   NCI:C122795;   NCI:C122796;   ORDO:839

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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 PMID:28492532 NCBI chr 3:28,260,935...28,356,706
Ensembl chr 3:28,261,214...28,356,706 		JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:2296603 PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 More... NCBI chr 3:37,323,725...37,340,401 JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chr12:1,113,358...1,117,319
Ensembl chr12:1,113,379...1,119,315 		JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:11805166 PMID:12464671 PMID:12707396 PMID:14978175 PMID:15253708 More... NCBI chr 9:121,120,031...121,209,686
Ensembl chr 9:121,120,235...121,223,059 		JBrowse link
G CCL11 chemokine (C-C motif) ligand 11 ISO RGD PMID:9892814 RGD:7248412 NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715 		JBrowse link
G KIRREL2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition ClinVar PMID:9536098 PMID:9660941 PMID:9915943 PMID:11317351 PMID:11854170 More... NCBI chr 6:45,275,737...45,284,096
Ensembl chr 6:45,275,716...45,284,444 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition
ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition		 OMIM
ClinVar		 PMID:2656023 PMID:9536098 PMID:9543371 PMID:9660941 PMID:9915943 More... NCBI chr 6:45,248,325...45,271,892
Ensembl chr 6:45,248,325...45,274,577 		JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11805168 More... NCBI chr 9:121,217,734...121,236,214
Ensembl chr 9:121,218,369...121,236,430 		JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chr14:105,422,628...105,764,736
Ensembl chr14:105,458,916...105,764,737 		JBrowse link
G PROS1 protein S ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 ClinVar PMID:10790208 PMID:11127877 PMID:11858485 PMID:18322254 PMID:20880255 More... NCBI chr13:165,915,298...165,999,118
Ensembl chr13:165,911,366...165,999,811 		JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 ClinVar PMID:10691414 PMID:10835640 PMID:11950815 PMID:12011155 PMID:12187509 More... NCBI chr 2:149,072,652...149,079,529
Ensembl chr 2:149,071,703...149,079,499 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491 		JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:22099579 PMID:25741868 PMID:27719739 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15437
    syndrome 10449
      nephrotic syndrome 174
        familial nephrotic syndrome 50
          nephrotic syndrome type 1 14
Path 2
Term Annotations click to browse term
  disease 15437
    disease of anatomical entity 15106
      Urogenital Diseases 4869
        urinary system disease 2388
          kidney disease 2145
            proteinuria 378
              nephrosis 287
                nephrotic syndrome 174
                  familial nephrotic syndrome 50
                    nephrotic syndrome type 1 14
paths to the root