| Metadata | |
|---|---|
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |