Mondo Description Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.

Uniprot Description A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities.