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 1 ID (Ontology) DOID:0080390 (Human Disease)
Definition A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.
Also Known As "Finnish congenital nephrosis"
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       5
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 nephrotic syndrome type 1       5      4      1
 for disease ribbon | nephrotic syndrome type 1       --       4       --
 model of | nephrotic syndrome type 1       5      4       --
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 1  10 rec.
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Is a autosomal recessive disease
familial nephrotic syndrome
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Synonyms
  • "Finnish congenital nephrosis" EXACT
Secondary IDs
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GARD:1500
MEDDRA:10060740
MIM:256300
NCI:C122795
ORDO:839
SNOMEDCT_US_2023_03_01:197601003
UMLS_CUI:C0403399