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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
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003081 | Increased urinary potassium |
| HP:0012606 | Renal sodium wasting |
| HP:0002909 | Generalized aminoaciduria |
| HP:0002049 | Proximal renal tubular acidosis |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0001510 | Growth delay |
| HP:0003149 | Hyperuricosuria |
| HP:0002653 | Bone pain |
| HP:0003109 | Hyperphosphaturia |
| HP:0001942 | Metabolic acidosis |
