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Hereditary hypophosphatemic rickets with hypercalciuria
rareHereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.
- Identifiers
- MONDO:0009431 OMIM:241530Orphanet:157215
- Causal genes
- SLC34A3
- Also known as
- HHRH · hypercalciuric hypophosphatemic rickets · hypophosphatemic hypercalciuric rickets · hypophosphatemic rickets with hypercalciuria · hypophosphatemic rickets with hypercalciuria, hereditary
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