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DO Term : hyperphosphatasia with impaired intellectual development syndrome 2 [DOID:0070434] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13.

synonyms:
GPIBD6,
glycosylphosphatidylinositol biosynthesis defect 6,
HPMRS2,
614749,
OMIM:614749,
hyperphosphatasia with mental retardation syndrome 2

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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