Osteogenesis Imperfecta Type 19
Disease ID: disease_node_15635
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| Dbxref | MIM:301014 |
|---|---|
| Subclassof | DOID_0080012, DOID_12347 |
| Data Source | DOID |
| Synonyms | OI19, osteogenesis imperfecta type XIX |
| Doid Label | osteogenesis imperfecta type 19 |
| Doid Description | An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_15635 |
| Doid Id | DOID_0111847 |
| Label | Osteogenesis Imperfecta Type 19 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)