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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: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 |
