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Fanconi renotubular syndrome 2
Summary
- Definition
- A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35.
- Super Class
- Fanconi syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080758
- 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 |
