Metadata | |
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ID | DOID:0080759 |
Name | Fanconi renotubular syndrome 3 |
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. https://pubmed.ncbi.nlm.nih.gov/24401050/ |
Xrefs | |
Parent Relationships |
is_a Fanconi syndrome |