Nephrotic Syndrome Type 1
Disease ID: disease_node_19076
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| Dbxref | GARD:1500, MEDDRA:10060740, MIM:256300, NCI:C122795, ORDO:839, SNOMEDCT_US_2023_03_01:197601003, UMLS_CUI:C0403399 |
|---|---|
| Subclassof | DOID_2590, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Finnish congenital nephrosis |
| Doid Label | nephrotic syndrome type 1 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19076 |
| Doid Id | DOID_0080390 |
| Label | Nephrotic Syndrome Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)