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| Term | Kniest dysplasia | ID (Ontology) | DOID:0080045 (Human Disease) |
| Definition | An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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autosomal genetic disease |__autosomal dominant disease__ bone development disease | |__osteochondrodysplasia_______| cartilage disease | |__osteochondrodysplasia_______| Kniest dysplasia |
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Relationships
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| Is a |
autosomal dominant disease osteochondrodysplasia |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:6841 MESH:C537207 MIM:156550 |
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