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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

OMIM:610725

Synonyms

early onset nephrotic syndrome type 3 [EXACT]

Parent Relationships

is_a familial nephrotic syndrome

is_a autosomal recessive disease

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