hypophosphatasia

Term ID

DOID:14213

Synonyms

• 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. https://ghr.nlm.nih.gov/condition/hypophosphatasia

References

• GARD:6734
• ICD10CM:E83.39
• MESH:C562440
• MESH:D007014
• NCI:C26798
• ORDO:436
• SNOMEDCT_US_2023_03_01:30174008
• SNOMEDCT_US_2023_03_01:70848009
• UMLS_CUI:C0020630
• UMLS_CUI:C0220743

Ontology

Human Disease   ( DOID:14213 )