Moderate hypophosphatasia
MONDO:0600010A rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood. It can inherited via either autosomal dominant or autosomal recessive inheritance.
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Disease
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Metabolic disease
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Hereditary disease
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Inborn errors of metabolism
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Human disease
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Hypophosphatasia
(13)
Developmental defect during embryogenesis
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Disease of genetic or genomic mechanism
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Developmental anomaly of metabolic origin
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Disease by developmental or physiological process
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