Nephrotic Syndrome Type 22
Disease ID: disease_node_19069
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| Dbxref | MIM:619155 |
|---|---|
| Subclassof | DOID_2590, DOID_0050737 |
| Data Source | DOID |
| Synonyms | NPHS22 |
| Doid Label | nephrotic syndrome type 22 |
| Doid Description | A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19069 |
| Doid Id | DOID_0112268 |
| Label | Nephrotic Syndrome Type 22 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)