| 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 ) |