Term Name: | nephrotic syndrome type 14 |
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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 ) |