Hereditary hypophosphatemic rickets with hypercalciuria
Hereditary hypophosphatemic rickets with hypercalciuria
Definition
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.
Also known as HHRH, hypercalciuric hypophosphatemic rickets, hypophosphatemic hypercalciuric rickets, hypophosphatemic rickets with hypercalciuria — per MONDO
Also identified as
- DOID 0050947 per MONDO
- MESH C562793 per MONDO
- NCIT C131450 per MONDO
- OMIM 241530 per MONDO
- Orphanet 157215 per MONDO
- SCTID 237891005 per MONDO
- UMLS C1853271 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Bone element | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Bone element | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Connective tissue | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |