FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Fanconi renotubular syndrome 3 ID (Ontology) DOID:0080759 (Human Disease)
Definition A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27.
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 Genes
 Fanconi renotubular syndrome 3       1
 for disease ribbon | Fanconi renotubular syndrome 3       1
 model of | Fanconi renotubular syndrome 3       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease___
renal tubular transport disease  |
 |__Fanconi syndrome_____________|
                                 Fanconi renotubular syndrome 3  1 rec.
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Is a autosomal dominant disease
Fanconi syndrome
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MIM:615605