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Metadata
ID DOID:14213
Name hypophosphatasia
Definition A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in ALPL on chromosome 1p36.12.
https://ghr.nlm.nih.gov/condition/hypophosphatasia
Xrefs

GARD:6734

ICD10CM:E83.39

MESH:C562440

MESH:D007014

NCI:C26798

ORDO:436

SNOMEDCT_US_2020_09_01:30174008

SNOMEDCT_US_2020_09_01:70848009

UMLS_CUI:C0020630

UMLS_CUI:C0220743

Alternateids

DOID:14763

Subsets

NCIthesaurus

Synonyms

childhood hypophosphatasia [EXACT]

deficiency of alkaline phosphatase [EXACT]

hypophospatasia, childhood [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal genetic disease

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