Visualize Submit Comment

Metadata
ID	DOID:0080389
PURL	http://purl.obolibrary.org/obo/DOID_0080389 Copy Copied!
Name	nephrotic syndrome type 8
Definition	A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25. https://www.ncbi.nlm.nih.gov/pubmed/23434736, https://www.ncbi.nlm.nih.gov/pubmed/23867502
Xrefs	MIM:615244
Parent Relationships	is_a familial nephrotic syndrome is_a autosomal recessive disease