Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0050947 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models