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| Term | spondyloepiphyseal dysplasia congenita | ID (Ontology) | DOID:14789 (Human Disease) |
| Definition | A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. | ||
| Also Known As | "Late Spondyloepiphyseal Dysplasia" | ||
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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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No relevant statements available
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autosomal genetic disease |__autosomal dominant disease____ osteochondrodysplasia | |__spondyloepiphyseal dysplasia__| spondyloepiphyseal dysplasia congenita |
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autosomal dominant disease spondyloepiphyseal dysplasia |
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External Crossreferences & Linkouts
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GARD:4987 MESH:C535788 MIM:183900 |
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