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| Term | multiple synostoses syndrome 1 | ID (Ontology) | DOID:0081317 (Human Disease) |
| Definition | A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. | ||
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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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autosomal dominant disease__ dysostosis__________________| multiple synostoses syndrome |__multiple synostoses syndrome 1 |
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| Is a | multiple synostoses syndrome | ||
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External Crossreferences & Linkouts
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GARD:3836 MIM:186500 |
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