| Metadata | |
|---|---|
| ID | DOID:14213 |
| Name | hypophosphatasia |
| Definition | A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12. https://ghr.nlm.nih.gov/condition/hypophosphatasia |
| Xrefs |
SNOMEDCT_US_2023_03_01:30174008 SNOMEDCT_US_2023_03_01:70848009 |
| Alternateids |
DOID:14763 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
deficiency of alkaline phosphatase [EXACT] |
| Parent Relationships |
is_a syndrome |