FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondyloepiphyseal dysplasia ID (Ontology) DOID:0112280 (Human Disease)
Definition An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.
Also Known As "SED"
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DO.org
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Spanning Tree (Parents/Children)
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bone development disease__
cartilage disease_________|
                          osteochondrodysplasia
                           |__spondyloepiphyseal dysplasia  5 rec.
                               |__spondyloepiphyseal dysplasia congenita
                               |__spondyloepiphyseal dysplasia Kimberley type
                               |__spondyloepiphyseal dysplasia Kondo-Fu type 1 rec.
                               |__spondyloepiphyseal dysplasia Maroteaux type 1 rec.
                               |__spondyloepiphyseal dysplasia Nishimura type
                               |__spondyloepiphyseal dysplasia Stanescu type
                               |__spondyloepiphyseal dysplasia tarda 1 rec.
                               |   |__autosomal dominant spondyloepiphyseal dysplasia tarda
                               |   |__autosomal recessive spondyloepiphyseal dysplasia tarda
                               |   |__autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type
                               |   |__spondyloepiphyseal dysplasia tarda with characteristic facies
                               |   |__spondyloepiphyseal dysplasia tarda with intellectual disability
                               |   |__X-linked spondyloepiphyseal dysplasia tarda 1 rec.
                               |__spondyloepiphyseal dysplasia with congenital joint dislocations 2 rec.
                               |__spondyloepiphyseal dysplasia with punctate corneal dystrophy
                               |__spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
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Is a osteochondrodysplasia
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Synonyms
  • "SED" EXACT OMO:0003012
Secondary IDs
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GARD:7687