WormBase Tree Display for DO_term: DOID:0111248
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| DOID:0111248 | Name | cerebrocostomandibular syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. | ||||
| Synonym | Exact | CCM syndrome | |||
| CCMS | |||||
| cerebro-costo-mandibular syndrome | |||||
| rib gap defects with micrognathia | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 117650 | |
| Attribute_of | Gene_by_orthology | WBGene00004915 |
