Compound: FDB013380 (Phosphoric acid)
Term: Hypophosphatasia
Definition: it is an inborn error of metabolism characterized clinically by defective bone mineralization that can be fatal early in infancy. three more or less distinct types can be identified: (1) type 1 with onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately severe 'rachitic' skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being determined on routine studies.
Parent Term: Biochemical pathway
Parent Definition: A linked series of chemical reactions that occur in a defined order within or between organism cells, and lead to a known function or end product.
Synonyms
Other Compounds Mapped to 'Hypophosphatasia'