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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:0003076 | Glycosuria |
| HP:0002148 | Hypophosphatemia |
| HP:0004910 | Bicarbonate-wasting renal tubular acidosis |
| HP:0001824 | Weight loss |
| HP:0003234 | Decreased circulating carnitine concentration |
| HP:0012622 | Chronic kidney disease |
| HP:0002659 | Increased susceptibility to fractures |
| HP:0001324 | Muscle weakness |
| HP:0002900 | Hypokalemia |
| HP:0003646 | Bicarbonaturia |
