moderate hypophosphatasia
MONDO:0600010Mondo
Findings
No curated finding names moderate hypophosphatasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood. It can inherited via either autosomal dominant or autosomal recessive inheritance.
Definition from the Mondo Disease Ontology (MONDO:0600010), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of