Visualize Submit Comment

Metadata
ID	DOID:0112268
Name	nephrotic syndrome type 22
Definition	A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. https://pubmed.ncbi.nlm.nih.gov/33523862/
Xrefs	MIM:619155
Synonyms	NPHS22 [EXACT]
Parent Relationships	is_a familial nephrotic syndrome is_a autosomal recessive disease