Van Esch-O'Driscoll Syndrome
Disease ID: disease_node_13592
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:301030, ORDO:163976 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060309 |
| Data Source | DOID |
| Synonyms | MRXSVEOD, VEODS, X-linked intellectual disability, Van Esch type, X-linked syndromic mental retardation Van Esch-O'Driscoll type |
| Doid Label | Van Esch-O'Driscoll syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_13592 |
| Doid Id | DOID_0111840 |
| Label | Van Esch-O'Driscoll Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)