has material basis in germline mutation in disease has feature ALPL Abnormality of bone mineral density developmental anomaly of metabolic origin hypophosphatasia https://www.malacards.org/card/hypophosphatasia MONDO:0018570 deficiency of alkaline phosphatase (disorder) [ambiguous] GARD:0006734 DOID:14213 SCTID:360792001 hypophosphatasia mild MEDGEN:43799 icd11.foundation:422012968 HPP NCIT:C26798 ICD9:277.6 UMLS:C0020630 NANDO:1200656 MESH:D007014 Orphanet:436 hypophospatasia, childhood NANDO:2201012 childhood hypophosphatasia Rathburn disease 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). phosphoethanol-aminuria phosphoethanolaminuria MedDRA:10049933 inborn errors of metabolism obsolete primary bone dysplasia with defective bone mineralization