ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Hypophosphatasia
Gene/Gene Panel:
Context: Adult
2025/05/21
Released
1.0.0
Morbidity from hypophosphatasia
(GroupC)
Referral to specialist for management including enzyme replacement therapy as appropriate.
(GroupC)
8ND
First curation in the adult context.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ALPL
⇔
0018570 HYPOPHOSPHATASIA, INFANTILE; HPPI
Moderate Actionability
Moderate Actionability
ALPL
⇔
0018570 HYPOPHOSPHATASIA, CHILDHOOD; HPPC
Moderate Actionability
Moderate Actionability
ALPL
⇔
0018570 HYPOPHOSPHATASIA, ADULT; HPPA
Moderate Actionability
Moderate Actionability
2022/02/17
In Preparation
N/A