Search Ontology:
Human Disease

Boomerang dysplasia

Term ID
DOID:0050680
Synonyms
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
References
Ontology
Human Disease   ( DOID:0050680 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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