hypophosphatasia
Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).
MONDO:0019705
obsolete primary bone dysplasia with defective bone mineralization (obsolete MONDO:0019705)
excluded_subClassOf
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0019052
inborn errors of metabolism
is_a
HPP
exact
Rathburn disease
exact
childhood hypophosphatasia
narrow
deficiency of alkaline phosphatase (disorder) [ambiguous]
exact
hypophospatasia, childhood
narrow
hypophosphatasia mild
narrow
phosphoethanol-aminuria
related
phosphoethanolaminuria
exact
SPAC824.07 SPBC14F5.13c