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Summary Literature (0)
DOID:14213 - hypophosphatasia

Disease Ontology 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.

Synonyms: childhood hypophosphatasia, childhood hypophosphatasia (disorder), deficiency of alkaline phosphatase, deficiency of alkaline phosphatase (disorder), deficiency of alkaline phosphatase (disorder) [Ambiguous], hypophospatasia, childhood

Xenbase Genes : alpl

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018570 - hypophosphatasia


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), autosomal genetic disease (is_a), syndrome (is_a)