FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hypophosphatasia ID (Ontology) DOID:14213 (Human Disease)
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.
Also Known As "deficiency of alkaline phosphatase"
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Spanning Tree (Parents/Children)
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monogenic disease
 |__autosomal genetic disease__
disease                        |
 |__syndrome___________________|
                               hypophosphatasia  7 rec.
                                |__adult hypophosphatasia 7 rec.
                                |__childhood hypophosphatasia 7 rec.
                                |__infantile hypophosphatasia 7 rec.
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Is a autosomal genetic disease
syndrome
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Synonyms
  • "deficiency of alkaline phosphatase" EXACT
Secondary IDs
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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