Osteogenesis Imperfecta Type 20
Disease ID: disease_node_15633
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| Dbxref | MIM:618644 |
|---|---|
| Subclassof | DOID_12347, DOID_0050737 |
| Data Source | DOID |
| Synonyms | OI20, osteogenesis imperfecta type XX |
| Doid Label | osteogenesis imperfecta type 20 |
| Doid Description | An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15633 |
| Doid Id | DOID_0111849 |
| Label | Osteogenesis Imperfecta Type 20 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)