C4329374_NCI_NICHD | Knowledge4COVID-19

Property	Value
?:definition	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.
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?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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