| Metadata | |
|---|---|
| ID | DOID:0050680 |
| Name | Boomerang dysplasia |
| Definition | An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14. https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |