Metadata | |
---|---|
ID | DOID:0110913 |
Name | adult hypophosphatasia |
Definition | A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12. https://www.ncbi.nlm.nih.gov/pubmed/1409720 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
mild hypophosphatasia [EXACT] |
Parent Relationships |
is_a hypophosphatasia |