hyperphosphatasia with impaired intellectual development syndrome 1 Disease Ontology Browser

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Disease Ontology Browser

hyperphosphatasia with impaired intellectual development syndrome 1 (DOID:0070433)
Alliance: disease page
Synonyms: glycosylphosphatidylinositol biosynthesis defect 2; GPIBD2; HPMRS1; hyperphosphatasia with mental retardation syndrome 1
Alt IDs: OMIM:239300, UMLS_CUI:C4551502
Definition: A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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