Disease association ontology term - MONDO:0600009 - severe hypophosphatasia
Term summary
- ID
- MONDO:0600009
- Name
- severe hypophosphatasia
- Ontology or CV name
- Disease association
- Definition
- A rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.
