WormBase Tree Display for DO_term: DOID:2717
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| DOID:2717 | Name | Bloom syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Bloom-Torre-Machacek syndrome | |||
| Congenital Telangiectatic Erythema syndrome | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 210900 | |
| Disease_model_annotation | WBDOannot00000132 | ||||
| WBDOannot00000436 | |||||
| WBDOannot00000437 | |||||
| WBDOannot00000438 | |||||
| Attribute_of | Gene_by_biology | WBGene00001865 | |||
| Gene_by_orthology | WBGene00001865 | ||||
| Disease_model_variation | WBVar00143997 | ||||
| WBVar00091706 | |||||
| Other_inducer | gamma irradiation |
