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 5 ID (Ontology) DOID:0080380 (Human Disease)
Definition A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.
Also Known As "nephrotic syndrome type 5, with or without ocular abnormalities"
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 Genes
 nephrotic syndrome type 5       1
 for disease ribbon | nephrotic syndrome type 5       1
 model of | nephrotic syndrome type 5       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 5  1 rec.
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Is a autosomal recessive disease
familial nephrotic syndrome
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Synonyms
  • "nephrotic syndrome type 5, with or without ocular abnormalities" EXACT
Secondary IDs
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MIM:614199