Search Ontology:
Human Disease
nephrotic syndrome type 1
- Term ID
- DOID:0080390
- Synonyms
-
- Finnish congenital nephrosis
- 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. (2)
- References
-
- GARD:1500
- MEDDRA:10060740
- MIM:256300
- Ontology
- Human Disease ( DOID:0080390 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| NPHS1 | Nephrotic syndrome, type 1 | nephrotic syndrome type 1 | 256300 |
1 - 1 of 1
Show
Zebrafish Models
| Fish | Conditions | Disease | Citation |
|---|---|---|---|
| nphs1mss102/mss102 (AB) | standard conditions | nephrotic syndrome type 1 | Lee et al., 2022 |
| nphs1mss103/mss103 (AB) | standard conditions | nephrotic syndrome type 1 | Lee et al., 2022 |
1 - 2 of 2
Show