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] HPPI [EXACT] phosphoethanolaminuria [EXACT] |
Parent Relationships |
is_a hypophosphatasia |