infantile hypophosphatasia
Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.
MONDO:0018570
hypophosphatasia
is_a
infantile hypophosphatasia
exact
SPBC14F5.13c