Search Ontology:
Human Disease

hyperphosphatasia with impaired intellectual development syndrome 6

Term ID
DOID:0070437
Synonyms
  • glycosylphosphatidylinositol biosynthesis defect 40
  • GPIBD40
  • HPMRS4
  • hyperphosphatasia with mental retardation syndrome 4
Definition
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. https://pubmed.ncbi.nlm.nih.gov/26293662/
References
Ontology
Human Disease   ( DOID:0070437 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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