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DOID:0110914 - infantile hypophosphatasia
Disease Ontology Definition:A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.
Synonyms: Hops, phosphoethanolaminuria,
Xenbase Genes : alpl
MONDO:0009427 - obsolete infantile hypophosphatasia |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hypophosphatasia (is_a)