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DO Term : hyperphosphatasia with impaired intellectual development syndrome 4 [DOID:0070436] 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 PGAP3 gene on chromosome 17q12.

synonyms:
glycosylphosphatidylinositol biosynthesis defect 62,
hyperphosphatasia with mental retardation syndrome 6,
615716,
GPIBD62,
HPMRS6,
OMIM:615716

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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