| Metadata | |
|---|---|
| ID | DOID:0070433 |
| Name | hyperphosphatasia with impaired intellectual development 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. https://pubmed.ncbi.nlm.nih.gov/20802478/, https://pubmed.ncbi.nlm.nih.gov/29310717/ |
| Xrefs | |
| Synonyms |
glycosylphosphatidylinositol biosynthesis defect 2 [EXACT] GPIBD2 [EXACT] HPMRS1 [EXACT] hyperphosphatasia with mental retardation syndrome 1 [EXACT] |
| Parent Relationships |
is_a hyperphosphatasia with impaired intellectual development syndrome |