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Boomerang dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.
Uniprot Description A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0007208:  Boomerang dysplasia
GARD:0000933: 
MESH:C536573: 
Orphanet:1263: 
SCTID:254054000: 
UMLS:C0432201: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)