hereditary hypophosphatemic rickets with hypercalciuria

Term ID

DOID:0050947

Synonyms

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. (2)

References

• OMIM:241530

Ontology

Human Disease   ( DOID:0050947 )