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Metadata
ID	DOID:0112267
Name	nephrotic syndrome type 21
Definition	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. https://pubmed.ncbi.nlm.nih.gov/29058690/
Xrefs	MIM:618594
Synonyms	NPHS21 [EXACT]
Parent Relationships	is_a familial nephrotic syndrome is_a autosomal recessive disease