hypophosphatasia
[genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia; manifestations include severe skeletal defects resembling vitamin D resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. ( CSP )]
UMLS (CSP) C0020630- Disease or Syndrome
Relation/PAR: Congenital Metabolic Disorder
inborn metal metabolism disorder
DIS PHOSPHORUS METABOL
inborn metal metabolism disorder
DIS PHOSPHORUS METABOL
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