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DO Term : hyperphosphatasia with impaired intellectual development syndrome 5 [DOID:0070432] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12.

synonyms:
GPIBD11,
OMIM:616025,
616025,
hyperphosphatasia with mental retardation syndrome 5,
glycosylphosphatidylinositol biosynthesis defect 11,
HPMRS5

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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