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Human Disease

hyperphosphatasia with impaired intellectual development syndrome 1

Term ID
DOID:0070433
Synonyms
  • glycosylphosphatidylinositol biosynthesis defect 2
  • GPIBD2
  • HPMRS1
  • hyperphosphatasia with mental retardation syndrome 1
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. (2)
References
Ontology
Human Disease   ( DOID:0070433 )
Relationships
is a type of
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Genes Involved
Zebrafish Models