Search Ontology:
Human Disease

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 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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