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 type 3 ID (Ontology) DOID:0112200 (Human Disease)
Definition A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2.
Also Known As "SEMDJL3"
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 Genes
 spondyloepimetaphyseal dysplasia with joint laxity type 3       1
 for disease ribbon | spondyloepimetaphyseal dysplasia with joint laxity type 3       1
 model of | spondyloepimetaphyseal dysplasia with joint laxity type 3       1
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autosomal genetic disease
 |__autosomal recessive disease_________________________
spondyloepimetaphyseal dysplasia                        |
 |__spondyloepimetaphyseal dysplasia with joint laxity__|
                                                        spondyloepimetaphyseal dysplasia with joint laxity type 3  1 rec.
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Is a autosomal recessive disease
spondyloepimetaphyseal dysplasia with joint laxity
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Synonyms
  • "SEMDJL3" EXACT OMO:0003012
Secondary IDs
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MIM:618395