OBO ID: DOID:14213
Term Name: hypophosphatasia Search Ontology:
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 hypophosphatasia PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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