| Metadata | |
|---|---|
| ID | DOID:0111849 |
| Name | osteogenesis imperfecta type 20 |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/31564437 |
| Xrefs | |
| Synonyms |
OI20 [EXACT] osteogenesis imperfecta type XX [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |