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DOID:0110914 - infantile hypophosphatasia
Disease Ontology Definition:A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12.
Synonyms: Hops, phosphoethanolaminuria,
Echinobase Genes :
MIM:241500 - hypophosphatasia, infantile |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hypophosphatasia (is_a)