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Metadata
ID DOID:0110914
Name infantile hypophosphatasia
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.
https://www.ncbi.nlm.nih.gov/pubmed/1689104
Xrefs

MIM:241500

ORDO:247651

Subsets

DO_rare_slim

Synonyms

HOPS [EXACT]

HPPI [EXACT]

phosphoethanolaminuria [EXACT]

Parent Relationships

is_a hypophosphatasia

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