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hypophosphatasia
Summary
- Synonym
-
- deficiency of alkaline phosphatase
- 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.
- Super Class
- autosomal genetic disease syndrome
External Links
- Disease Ontology
- DOID:14213
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- WikiPathways (from TogoID)
Related Genes
