WormBase Tree Display for DO_term: DOID:14250
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| DOID:14250 | Name | Down syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Complete trisomy 21 syndrome | |||
| Down's syndrome - trisomy 21 | |||||
| Down's syndrome | |||||
| Downs syndrome | |||||
| G Trisomy | |||||
| trisomy 21 syndrome | |||||
| Parent | Is_a | DOID:0060429 | |||
| DB_info | Database | OMIM | disease | 190685 | |
| Disease_model_annotation | WBDOannot00000129 | ||||
| WBDOannot00000131 | |||||
| WBDOannot00000156 | |||||
| WBDOannot00000166 | |||||
| WBDOannot00000311 | |||||
| WBDOannot00000491 | |||||
| WBDOannot00000492 | |||||
| WBDOannot00001310 | |||||
| Attribute_of | Gene_by_biology | WBGene00003905 | |||
| WBGene00003149 | |||||
| WBGene00010759 | |||||
| WBGene00003150 | |||||
| WBGene00004321 | |||||
| WBGene00006763 | |||||
| WBGene00010757 | |||||
| Gene_by_orthology (30) | |||||
| Disease_model_variation | WBVar00239371 | ||||
| WBVar00239364 | |||||
| Disease_model_strain | WBStrain00006180 | ||||
| WBStrain00033210 |
