Osteogenesis Imperfecta Type 21
Disease ID: disease_node_15616
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| Dbxref | MIM:619131 |
|---|---|
| Subclassof | DOID_12347, DOID_0050737 |
| Data Source | DOID |
| Synonyms | OI21, osteogenesis imperfecta type XXI |
| Doid Label | osteogenesis imperfecta type 21 |
| Doid Description | An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15616 |
| Doid Id | DOID_0112201 |
| Label | Osteogenesis Imperfecta Type 21 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)