Hypophosphatasia

Disease Term Disease ID Gene Symbol Classification References Source
ADULT HYPOPHOSPHATASIA
MONDO:0007798
ALPL Causal
23715323 29236161 30864637 33191482
GWAS catalog
ALPL-RELATED AUTOSOMAL DOMINANT HYPOPHOSPHATASIA
MONDO:0100608
ALPL Unknown
10690885 19500388 23715323 25716980 29236161
GWAS catalog
ALPL-RELATED AUTOSOMAL RECESSIVE HYPOPHOSPHATASIA
MONDO:0100609
ALPL Causal
10620060 1409720 14982838 18086009 25731960 30446691 3174660 32160374
GWAS catalog
CHILDHOOD-ONSET HYPOPHOSPHATASIA
247667
ALPL Unknown
10737975 17916236 20301329
Orphanet