WormBase Tree Display for DO_term: DOID:0080697
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| DOID:0080697 | Name | Opitz GBBB syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Alternate_id | DOID:0050780 | ||||
| Definition | A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. | ||||
| Synonym | Exact | Opitz G/BBB Syndrome | |||
| Opitz GBBB syndrome type I | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0080012 | |||||
| DB_info | Database | OMIM | disease | 300000 | |
| Disease_model_annotation | WBDOannot00000855 | ||||
| WBDOannot00000856 | |||||
| WBDOannot00000857 | |||||
| Attribute_of | Gene_by_biology | WBGene00016539 | |||
| Gene_by_orthology | WBGene00016539 | ||||
| Disease_model_variation | WBVar00278516 | ||||
| WBVar00278514 | |||||
| WBVar00278515 |
