Hereditary Hypophosphatemic Rickets With Hypercalciuria
Disease ID: disease_node_19041
Connections displayed (default: 10).
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| Dbxref | MIM:241530 |
|---|---|
| Subclassof | DOID_10609, DOID_0080578 |
| Data Source | DOID |
| Doid Label | hereditary hypophosphatemic rickets with hypercalciuria |
| Doid Description | A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000930 |
| Disease Node Id | disease_node_19041 |
| Doid Id | DOID_0050947 |
| Label | Hereditary Hypophosphatemic Rickets With Hypercalciuria |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Rickets(ID:disease_node_6679) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Digenic Disease(ID:disease_node_13627) (Disease)