WormBase Tree Display for DO_term: DOID:0111840
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| DOID:0111840 | Name | Van Esch-O'Driscoll syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Synonym | Exact | MRXSVEOD | |||
| VEODS | |||||
| X-linked intellectual disability, Van Esch type | |||||
| X-linked syndromic mental retardation Van Esch-O'Driscoll type | |||||
| Parent | Is_a | DOID:0060309 | |||
| DOID:0080012 | |||||
| DB_info | Database | OMIM | disease | 301030 | |
| Attribute_of | Gene_by_orthology | WBGene00012936 |
