Metadata | |
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ID | DOID:0080382 |
Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/17086182, https://www.ncbi.nlm.nih.gov/pubmed/18065803 |
Xrefs | |
Synonyms |
early onset nephrotic syndrome type 3 [EXACT] |
Parent Relationships |