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hereditary hypophosphatemic rickets with hypercalciuria

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.
Uniprot Description Autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion.
Mondo Term and Equivalent IDs
MONDO:0009431:  hereditary hypophosphatemic rickets with hypercalciuria
MESH:C562793: 
NCIT:C131450: 
Orphanet:157215: 
SCTID:237891005: 
UMLS:C1853271: