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Summary Literature (0)
DOID:0050680 - Boomerang dysplasia

Disease Ontology 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.

Synonyms:

Xenbase Genes : flnb

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007208 - Boomerang dysplasia


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): osteochondrodysplasia (is_a)