Search Ontology:
Human Disease

hyperphosphatasia with impaired intellectual development syndrome 4

Term ID
DOID:0070436
Synonyms
  • glycosylphosphatidylinositol biosynthesis defect 62
  • GPIBD62
  • HPMRS6
  • hyperphosphatasia with mental retardation syndrome 6
Definition
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12. https://pubmed.ncbi.nlm.nih.gov/24439110/
References
Ontology
Human Disease   ( DOID:0070436 )
Relationships
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Genes Involved
Zebrafish Models