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Summary Literature (0)
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, HOPS, HPPI, phosphoethanolaminuria

Xenbase Genes : alpl

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009427 - obsolete infantile hypophosphatasia

MIM:
MIM:241500 - HYPOPHOSPHATASIA, INFANTILE; HPPI

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): hypophosphatasia (is_a)