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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
MONDO:0009431 - hereditary hypophosphatemic rickets with hypercalciuria

MIM:
MIM:241530 - HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): digenic disease (is_a), rickets (is_a)