1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111840 | Van Esch-O'Driscoll syndrome | A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. |
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. |
