WormBase Tree Display for DO_term: DOID:1928
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| DOID:1928 | Name | Williams-Beuren syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Fanconi Schlesinger syndrome | |||
| Parent | Is_a | DOID:225 | |||
| DOID:0050736 | |||||
| DOID:0060388 | |||||
| DB_info | Database | OMIM | disease | 194050 | |
| Disease_model_annotation | WBDOannot00001017 | ||||
| WBDOannot00001018 | |||||
| Attribute_of | Gene_by_biology | WBGene00013151 | |||
| WBGene00021073 | |||||
| Gene_by_orthology | WBGene00003397 | ||||
| WBGene00011730 | |||||
| WBGene00012370 | |||||
| WBGene00016166 |
