|
DOID:0050947 - hereditary hypophosphatemic rickets with hypercalciuria
Disease Ontology 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.
Synonyms:
Xenbase Genes
:
slc34a3
| MONDO:0009431 - hereditary hypophosphatemic rickets with hypercalciuria |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
rickets (is_a)