Term Name: nephrotic syndrome type 14
Synonyms:
Definition: A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21.
Ontology: Human Disease [DOID:0080265]   ( DOID:0080265 )

Relationships
is a type of: autosomal recessive disease familial nephrotic syndrome