Nephrotic Syndrome Type 23
Disease ID: disease_node_19071
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| Dbxref | MIM:619201 |
|---|---|
| Subclassof | DOID_2590, DOID_0050737 |
| Data Source | DOID |
| Synonyms | NPHS23 |
| Doid Label | nephrotic syndrome type 23 |
| Doid Description | A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19071 |
| Doid Id | DOID_0112266 |
| Label | Nephrotic Syndrome Type 23 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)