Term Name: | nephrotic syndrome type 11 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080385] ( DOID:0080385 ) |