Term Name: Fanconi renotubular syndrome 3
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 )

Relationships
is a type of: autosomal dominant disease Fanconi syndrome