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DO Term : hyperphosphatasia with impaired intellectual development syndrome 3 [DOID:0070435] 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 PGAP2 gene on chromosome 11p15.

synonyms:
GPIBD8,
glycosylphosphatidylinositol biosynthesis defect 8,
hyperphosphatasia with mental retardation syndrome 3,
OMIM:614207,
614207,
HPMRS3

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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