WormBase Tree Display for DO_term: DOID:0112056
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| DOID:0112056 | Name | X-linked intellectual disability-short stature-overweight syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. | ||||
| Synonym | Exact | MRX12 | |||
| MRX35 | |||||
| X-linked mental retardation 12 | |||||
| X-linked mental retardation 35 | |||||
| Parent | Is_a | DOID:0060309 | |||
| DOID:0080012 | |||||
| DB_info | Database | OMIM | disease | 300957 | |
| Attribute_of | Gene_by_orthology | WBGene00015813 |
