Term Name: | nephrotic syndrome type 3 |
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Synonyms: | early onset nephrotic syndrome type 3 |
Definition: | A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23. |
Ontology: | Human Disease [DOID:0080382] ( DOID:0080382 ) |