1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070434 | hyperphosphatasia with impaired intellectual development syndrome 2 | A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0060308 | autosomal recessive intellectual developmental disorder | A intellectual disability characterized by an autosomal recessive inheritance pattern. |