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Fanconi renotubular syndrome 3
Summary
- 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.
- Super Class
- Fanconi syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0080759
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003593 | Infantile onset |
| HP:0000083 | Renal insufficiency |
| HP:0003259 | Elevated circulating creatinine concentration |
| HP:0002979 | Bowing of the legs |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003355 | Aminoaciduria |
| HP:0004322 | Short stature |
| HP:0002748 | Rickets |
