Metadata | |
---|---|
ID | DOID:0080389 |
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/23867502, https://www.ncbi.nlm.nih.gov/pubmed/23434736 |
Xrefs | |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |