Term Name: infantile hypophosphatasia
Synonyms: HOPS, HPPI, phosphoethanolaminuria
Definition: A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.
Ontology: Human Disease [DOID:0110914]   ( DOID:0110914 )

Relationships
is a type of: hypophosphatasia