| Metadata | |
|---|---|
| ID | DOID:0111847 |
| Name | osteogenesis imperfecta type 19 |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/27380894 |
| Xrefs | |
| Synonyms |
OI19 [EXACT] osteogenesis imperfecta type XIX [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |