FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Fanconi syndrome ID (Ontology) DOID:1062 (Human Disease)
Definition A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
Also Known As "adult Fanconi Anemia" ; "adult Fanconi syndrome" ; "Congenital Fanconi syndrome" (for all, see Synonyms field below)
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DO.org
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 Alleles Genes
 Fanconi syndrome       2      1
 model of | Fanconi syndrome       1       --
 model of | microphthalmia       1       --
 DOES NOT model | Fanconi syndrome       1       --
Spanning Tree (Parents/Children)
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  kidney disease
   |__renal tubular transport disease
       |__Fanconi syndrome  6 rec.
           |__Fanconi renotubular syndrome 1
           |__Fanconi renotubular syndrome 2
           |__Fanconi renotubular syndrome 3 1 rec.
           |__Fanconi renotubular syndrome 4 2 rec.
           |__Fanconi renotubular syndrome 5 1 rec.
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Is a renal tubular transport disease
Part of
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Synonyms
  • "adult Fanconi Anemia" EXACT
    "adult Fanconi syndrome" EXACT
    "Congenital Fanconi syndrome" EXACT
    "De Toni-Fanconi syndrome" EXACT
    "deToni Fanconi syndrome" EXACT
    "Fanconi-de Toni syndrome" EXACT
    "Fanconi-de-Toni syndrome" EXACT
    "Infantile nephropathic cystinosis" EXACT
    "Lignac-Fanconi syndrome" EXACT
Secondary IDs
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GARD:9118
MESH:D005198
MIM:PS134600
NCI:C3034
NCI:C4377
ORDO:3337
SNOMEDCT_US_2023_03_01:236468006
SNOMEDCT_US_2023_03_01:40488004
UMLS_CUI:C0015624
UMLS_CUI:C0341703