| Metadata | |
|---|---|
| ID | DOID:0110914 |
| Name | infantile hypophosphatasia |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/1689104 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Hops [EXACT] phosphoethanolaminuria [EXACT] |
| Parent Relationships |
is_a hypophosphatasia |