| Metadata | |
|---|---|
| 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 autosomal dominant disease is_a Fanconi syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |