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DO Term : hypophosphatasia [DOID:14213] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
DOID:14763,
UMLS_CUI:C0220743,
GARD:6734,
ORDO:436,
SNOMEDCT_US_2023_03_01:70848009,
SNOMEDCT_US_2023_03_01:30174008,
MESH:C562440,
UMLS_CUI:C0020630,
ICD10CM:E83.39,
MESH:D007014,
NCI:C26798,
deficiency of alkaline phosphatase

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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