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| Term | spondyloperipheral dysplasia | ID (Ontology) | DOID:0112195 (Human Disease) |
| Definition | An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. | ||
| Also Known As | "spondyloperipheral dysplasia-short ulna syndrome" | ||
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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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autosomal genetic disease |__autosomal dominant disease__ bone development disease | |__osteochondrodysplasia_______| cartilage disease | |__osteochondrodysplasia_______| spondyloperipheral dysplasia |
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| Is a |
autosomal dominant disease osteochondrodysplasia |
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MIM:271700 ORDO:1856 |
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