C0733682_NCI_NICHD | Knowledge4COVID-19

Property	Value
?:definition	Hypophosphatemic rickets due to renal phosphate wasting as a result of mutation(s) in the X-chromosomal PHEX gene, encoding phosphate-regulating neutral endopeptidase. This condition is characterized by normal serum calcium, increased serum alkaline phosphatase, low or inappropriately normal concentrations of 1,25-dihydroxyvitamin D (calcitriol), variable short stature, frontal bossing, dental abscesses, tibial bowing, and inflammation of the insertion sites of ligaments and tendons.
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?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/NCI_NICHD>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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