Term Name: | nephrotic syndrome type 21 |
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Synonyms: | NPHS21 |
Definition: | A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1. |
Ontology: | Human Disease [DOID:0112267] ( DOID:0112267 ) |