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MIRAGE
Boomerang dysplasia

Summary
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.
Super Class
osteochondrodysplasia
Disease Ontology
DOID:0050680
Mondo Disease Ontology
MeSH
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2317 FLNB filamin B
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O75369 Filamin-B
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025