PhosphoethanolaminuriaHopsOther Compounds Mapped to 'Hypophosphatasia'FDB021874 (4-Pyridoxic acid) FDB003908 (Ammonia) FDB000574 (Pyridoxine) FDB031004 (Mg2+) FDB022511 (FAD) FDB031140 (pyridoxine-5'-phosphate) FDB022589 (Oxygen) FDB021819 (Pyridoxamine) FDB021820 (Pyridoxal 5'-phosphate) FDB030862 (FMN)
- FDB013380 (Phosphoric acid)
- 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.