OBO ID: DOID:0050680
Term Name: Boomerang dysplasia Search Ontology:
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 )
OTHER Boomerang dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FLNB Boomerang dysplasia 112310
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None