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DO Term : infantile hypophosphatasia [DOID:0110914] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
phosphoethanolaminuria,
ORDO:247651,
HOPS,
241500,
OMIM:241500,
HPPI

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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