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Metadata
ID DOID:0080265
Name nephrotic syndrome type 14
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.
https://www.ncbi.nlm.nih.gov/pubmed/28165343, https://www.ncbi.nlm.nih.gov/pubmed/30683667, https://www.omim.org/entry/617575
Xrefs

OMIM:617575

Parent Relationships

is_a familial nephrotic syndrome

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