Nephrotic Syndrome Type 21
Disease ID: disease_node_19070
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| Dbxref | MIM:618594 |
|---|---|
| Subclassof | DOID_2590, DOID_0050737 |
| Data Source | DOID |
| Synonyms | NPHS21 |
| Doid Label | nephrotic syndrome type 21 |
| Doid Description | A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19070 |
| Doid Id | DOID_0112267 |
| Label | Nephrotic Syndrome Type 21 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)