WormBase Tree Display for DO_term: DOID:0111848
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| DOID:0111848 | Name | osteogenesis imperfecta type 18 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1. | ||||
| Synonym | Exact | OI18 | |||
| osteogenesis imperfecta, type XVIII | |||||
| Parent | Is_a | DOID:12347 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 617952 | |
| Attribute_of | Gene_by_orthology | WBGene00004131 |
