Nephrotic Syndrome Type 2
Disease ID: disease_node_19087
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| Dbxref | MIM:600995 |
|---|---|
| Subclassof | DOID_2590, DOID_0050737 |
| Data Source | DOID |
| Synonyms | steroid-resistant autosomal recessive nephrotic syndrome |
| Doid Label | nephrotic syndrome type 2 |
| Doid Description | A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19087 |
| Doid Id | DOID_0080379 |
| Label | Nephrotic Syndrome Type 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)