perinatal lethal hypophosphatasia
A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.
MONDO:0100609
ALPL-related autosomal recessive hypophosphatasia
is_a
HPPN
exact
perinatal lethal Rathburn disease
exact
perinatal lethal phosphoethanolaminuria
exact