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 22 ID (Ontology) DOID:0112268 (Human Disease)
Definition A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3.
Also Known As "NPHS22"
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 Genes
 nephrotic syndrome type 22       1
 for disease ribbon | nephrotic syndrome type 22       1
 model of | nephrotic syndrome type 22       1
Spanning Tree (Parents/Children)
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monogenic disease
 |__familial nephrotic syndrome__
autosomal genetic disease        |
 |__autosomal recessive disease__|
nephrotic syndrome               |
 |__familial nephrotic syndrome__|
                                 nephrotic syndrome type 22  1 rec.
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Is a autosomal recessive disease
familial nephrotic syndrome
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Synonyms
  • "NPHS22" EXACT OMO:0003012
Secondary IDs
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MIM:619155