Disease association ontology term - MONDO:1010169 - infantile hypophosphatasia
Term summary
- ID
- MONDO:1010169
- Name
- infantile hypophosphatasia
- Ontology or CV name
- Disease association
- Definition
- Infantile hypophosphatasia (I-HPP) is a very 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.
