FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondyloepimetaphyseal dysplasia with joint laxity ID (Ontology) DOID:0112197 (Human Disease)
Definition A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility.
Also Known As "SEMDJL"
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DO.org
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spinal disease_________
osteochondrodysplasia__|
                       spondyloepimetaphyseal dysplasia
                        |__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.
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Is a spondyloepimetaphyseal dysplasia
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Synonyms
  • "SEMDJL" EXACT OMO:0003012
Secondary IDs
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GARD:4982
MESH:C562968
MIM:PS271640
ORDO:93359