1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0111843 | Paganini-Miozzo syndrome | A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:150 | disease of mental health | A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. |