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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:0001944 | Dehydration |
| HP:0004918 | Hyperchloremic metabolic acidosis |
| HP:0002206 | Pulmonary fibrosis |
| HP:0003126 | Low-molecular-weight proteinuria |
| HP:0000117 | Renal phosphate wasting |
| HP:0002749 | Osteomalacia |
| HP:0003537 | Hypouricemia |
| HP:0001943 | Hypoglycemia |
| HP:0004912 | Hypophosphatemic rickets |
| HP:0002150 | Hypercalciuria |
