FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hyperphosphatasia with impaired intellectual development syndrome 3 ID (Ontology) DOID:0070435 (Human Disease)
Definition A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15.
Also Known As "glycosylphosphatidylinositol biosynthesis defect 8" ; "GPIBD8" ; "HPMRS3" (for all, see Synonyms field below)
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 hyperphosphatasia with impaired intellectual development syndrome 3       3
 for disease ribbon | hyperphosphatasia with impaired intellectual development syndrome 3       3
 model of | hyperphosphatasia with impaired intellectual development syndrome 3       3
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  autosomal recessive intellectual developmental disorder
   |__hyperphosphatasia with impaired intellectual development syndrome
       |__hyperphosphatasia with impaired intellectual development syndrome 3  3 rec.
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Is a hyperphosphatasia with impaired intellectual development syndrome
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Synonyms
  • "glycosylphosphatidylinositol biosynthesis defect 8" EXACT
    "GPIBD8" EXACT OMO:0003012
    "HPMRS3" EXACT OMO:0003012
    "hyperphosphatasia with mental retardation syndrome 3" EXACT
Secondary IDs
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MIM:614207