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autosomal recessive infantile hypercalcemia

Disease Summary
Associated Targets (3)
Tchem

2

Tbio

1


Mondo Description A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis.
Mondo Term and Equivalent IDs
MONDO:0007749:  autosomal recessive infantile hypercalcemia
NCIT:C129734: 
Orphanet:300547: 
SCTID:34225008: 
UMLS:C4329374: 
UMLS:CN203398: