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DO Term : hyperphosphatasia with impaired intellectual development syndrome 1 [DOID:0070433] 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 PIGV gene on chromosome 1p36.

synonyms:
GPIBD2,
239300,
hyperphosphatasia with mental retardation syndrome 1,
HPMRS1,
UMLS_CUI:C4551502,
OMIM:239300,
glycosylphosphatidylinositol biosynthesis defect 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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