Visualize Submit Comment
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

GARD:933

MESH:C536573

OMIM:112310

Subsets

DO_rare_slim

Parent Relationships

is_a osteochondrodysplasia

Add an item to the term tracker