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Metadata
ID DOID:0080385
Name nephrotic syndrome type 11
Definition A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.
https://www.ncbi.nlm.nih.gov/pubmed/26411495
Xrefs

MIM:616730

Parent Relationships

is_a familial nephrotic syndrome

is_a autosomal recessive disease

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