Nephrotic Syndrome Type 12
Disease ID: disease_node_19079
Connections displayed (default: 10).
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| Dbxref | MIM:616892 |
|---|---|
| Subclassof | DOID_2590, DOID_0050737 |
| Data Source | DOID |
| Doid Label | nephrotic syndrome type 12 |
| Doid Description | A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19079 |
| Doid Id | DOID_0080387 |
| Label | Nephrotic Syndrome Type 12 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)