WormBase Tree Display for DO_term: DOID:2907
expand all nodes | collapse all nodes | view schema
| DOID:2907 | Name | Goldenhar syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Facio-auriculo-vertebral spectrum | |||
| First AND second branchial arch syndrome | |||||
| First arch syndrome | |||||
| HEMIFACIAL MICROSOMIA | |||||
| OAV (oculoauriculovertebral) dysplasia | |||||
| Otomandibular dysostosis | |||||
| Parent | Is_a | DOID:225 | |||
| DB_info | Database | OMIM | disease | 164210 | |
| Disease_model_annotation | WBDOannot00001385 | ||||
| WBDOannot00001386 | |||||
| WBDOannot00001387 | |||||
| WBDOannot00001388 | |||||
| Attribute_of | Gene_by_biology | WBGene00005077 | |||
| WBGene00005078 | |||||
| Gene_by_orthology | WBGene00021004 | ||||
| Disease_model_variation | WBVar02158601 | ||||
| WBVar00092098 | |||||
| Disease_model_genotype | WBGenotype00000149 |
