Search Ontology:
Human Disease

hyperphosphatasia with impaired intellectual development syndrome 2

Term ID
DOID:0070434
Synonyms
  • glycosylphosphatidylinositol biosynthesis defect 6
  • GPIBD6
  • HPMRS2
  • hyperphosphatasia with mental retardation syndrome 2
Definition
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. https://pubmed.ncbi.nlm.nih.gov/22683086/
References
Ontology
Human Disease   ( DOID:0070434 )
Relationships
is a type of
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Genes Involved
Zebrafish Models