Osteogenesis Imperfecta Type 18
Disease ID: disease_node_15634
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| Dbxref | MIM:617952 |
|---|---|
| Subclassof | DOID_12347, DOID_0050737 |
| Data Source | DOID |
| Synonyms | OI18, osteogenesis imperfecta, type XVIII |
| Doid Label | osteogenesis imperfecta type 18 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15634 |
| Doid Id | DOID_0111848 |
| Label | Osteogenesis Imperfecta Type 18 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)