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