Human genes for infantile hypophosphatasia
Infantile hypophosphatasia [DOID:0110914]
A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.
Synonyms: infantile hypophosphatasia, DOID:0110914, infantile hypophosphatasias, Hops, phosphoethanolaminuria ...