Term Name: | Fanconi renotubular syndrome 3 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080759] ( DOID:0080759 ) |