| Metadata | |
|---|---|
| ID | DOID:0050947 |
| Name | hereditary hypophosphatemic rickets with hypercalciuria |
| Definition | 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. http://www.omim.org/entry/241530?search=241530&highlight=241530, http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple |
| Xrefs | |
| Parent Relationships |
is_a rickets is_a digenic disease |
| Subclass Logical Relationships |
has material basis in some digenic inheritance has symptom some muscle weakness |