| Metadata | |
|---|---|
| ID | DOID:0070437 |
| Name | hyperphosphatasia with impaired intellectual development syndrome 6 |
| 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/ |
| Xrefs | |
| Synonyms |
glycosylphosphatidylinositol biosynthesis defect 40 [EXACT] GPIBD40 [EXACT] HPMRS4 [EXACT] hyperphosphatasia with mental retardation syndrome 4 [EXACT] |
| Parent Relationships |
is_a hyperphosphatasia with impaired intellectual development syndrome |