Term Name: | infantile hypophosphatasia |
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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 ) |