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Infantile Hypophosphatasia

Disease ID: disease_node_15606

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DbxrefMIM:241500, ORDO:247651
SubclassofDOID_14213
Data SourceDOID
SynonymsHOPS, HPPI, phosphoethanolaminuria
Doid Labelinfantile hypophosphatasia
Doid DescriptionA hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.
Disease Node Iddisease_node_15606
Doid IdDOID_0110914
LabelInfantile Hypophosphatasia