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| Term | spondylometaphyseal dysplasia Algerian type | ID (Ontology) | DOID:0112296 (Human Disease) |
| Definition | A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. | ||
| Also Known As | "spondylometaphyseal dysplasia with severe genu valgum" ; "spondylometaphyseal dysplasia, Schmidt type" | ||
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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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osteochondrodysplasia |__spondylometaphyseal dysplasia |__spondylometaphyseal dysplasia Algerian type |
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| Is a | spondylometaphyseal dysplasia | ||
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External Crossreferences & Linkouts
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GARD:504 MESH:C535794 MIM:184253 ORDO:93316 SNOMEDCT_US_2023_03_01:719304005 UMLS_CUI:C1866688 |
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