FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondyloepimetaphyseal dysplasia ID (Ontology) DOID:0080027 (Human Disease)
Definition An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
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Spanning Tree (Parents/Children)
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bone disease
 |__spinal disease_________
bone development disease   |
 |__osteochondrodysplasia__|
cartilage disease          |
 |__osteochondrodysplasia__|
                           spondyloepimetaphyseal dysplasia  66 rec.
                            |__anauxetic dysplasia 2 rec.
                            |   |__anauxetic dysplasia 1
                            |   |__anauxetic dysplasia 2 1 rec.
                            |   |__anauxetic dysplasia 3 1 rec.
                            |__Dyggve-Melchior-Clausen disease 3 rec.
                            |   |__Smith-McCort dysplasia(+) 3 rec.
                            |__metatropic dysplasia 1 rec.
                            |__Schimke immuno-osseous dysplasia 49 rec.
                            |__spondyloepimetaphyseal dysplasia with joint laxity 4 rec.
                            |   |__spondyloepimetaphyseal dysplasia with joint laxity type 1 1 rec.
                            |   |__spondyloepimetaphyseal dysplasia with joint laxity type 2 2 rec.
                            |   |__spondyloepimetaphyseal dysplasia with joint laxity type 3 1 rec.
                            |__spondyloepimetaphyseal dysplasia, Genevieve-type 1 rec.
                            |__spondyloepimetaphyseal dysplasia, Li-Shao-Li type 1 rec.
                            |__spondyloepimetaphyseal dysplasia, Missouri type 1 rec.
                            |__spondyloepimetaphyseal dysplasia, Pakistani type 1 rec.
                            |__spondyloepimetaphyseal dysplasia, Sponastrime type 1 rec.
                            |__spondyloepimetaphyseal dysplasia, Strudwick type
                            |__spondylometaepiphyseal dysplasia, short limb-hand type 2 rec.
                            |__X-linked spondyloepimetaphyseal dysplasia
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Is a spinal disease
osteochondrodysplasia
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