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perinatal lethal hypophosphatasia

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description 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 Term and Equivalent IDs
MONDO:0016605:  perinatal lethal hypophosphatasia
Orphanet:247623: 
UMLS:C2673477: