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Disease Hypophosphatasia

Name Hypophosphatasia
Synonym Hypophosphatasias
Definition A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical 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. (From Dorland, 27th ed)
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D007014
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Metal Metabolism, Inborn Errors Has associated chemicals Has associated genes Hypophosphatasia Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Metal Metabolism, Inborn Errors Has associated chemicals Has associated genes Hypophosphatasia Has associated chemicals Has associated genes

Top ↑ Descendants

Hypophosphatasia Has associated chemicals Has associated genes
  Hypophosphatasia, Adult Has associated chemicals Has associated genes
  Hypophosphatasia, Childhood Has associated chemicals Has associated genes
  Hypophosphatasia, Infantile Has associated chemicals Has associated genes
  Hypophosphatasia, Perinatal Lethal
  Odontohypophosphatasia