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General Information
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| Term |
Boomerang dysplasia |
ID (Ontology) |
DOID:0050680 (Human Disease) |
| 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. |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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Boomerang dysplasia | 3 | for disease ribbon | Boomerang dysplasia | 3 | model of | Boomerang dysplasia | 3 |
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Relationships