FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term nephrotic syndrome type 21 ID (Ontology) DOID:0112267 (Human Disease)
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.
Also Known As "NPHS21"
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 Genes
 nephrotic syndrome type 21       2
 for disease ribbon | nephrotic syndrome type 21       2
 model of | nephrotic syndrome type 21       2
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monogenic disease
 |__familial nephrotic syndrome__
autosomal genetic disease        |
 |__autosomal recessive disease__|
nephrotic syndrome               |
 |__familial nephrotic syndrome__|
                                 nephrotic syndrome type 21  2 rec.
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Is a autosomal recessive disease
familial nephrotic syndrome
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Synonyms
  • "NPHS21" EXACT OMO:0003012
Secondary IDs
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MIM:618594