Term Name: hypophosphatasia
Synonyms: deficiency of alkaline phosphatase
Definition: A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12.
Ontology: Human Disease [DOID:14213]   ( DOID:14213 )

Relationships
is a type of: autosomal genetic disease syndrome
has subtype: adult hypophosphatasia childhood hypophosphatasia infantile hypophosphatasia