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| Term | spondyloepiphyseal dysplasia Kimberley type | ID (Ontology) | DOID:0112282 (Human Disease) |
| Definition | A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. | ||
| Also Known As | "SEDK" | ||
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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____ osteochondrodysplasia | |__spondyloepiphyseal dysplasia__| spondyloepiphyseal dysplasia Kimberley type |
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| Is a |
autosomal dominant disease spondyloepiphyseal dysplasia |
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External Crossreferences & Linkouts
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MESH:C564252 MIM:608361 ORDO:93283 SNOMEDCT_US_2023_03_01:719203001 UMLS_CUI:C1842149 |
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