FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondyloepiphyseal dysplasia Kondo-Fu type ID (Ontology) DOID:0112283 (Human Disease)
Definition A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1.
Also Known As "SED with elevated blood lysosomal enzymes" ; "SEDKF"
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DO.org
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 Genes
 spondyloepiphyseal dysplasia Kondo-Fu type       1
 for disease ribbon | spondyloepiphyseal dysplasia Kondo-Fu type       1
 model of | spondyloepiphyseal dysplasia Kondo-Fu type       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___
osteochondrodysplasia             |
 |__spondyloepiphyseal dysplasia__|
                                  spondyloepiphyseal dysplasia Kondo-Fu type  1 rec.
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Is a autosomal recessive disease
spondyloepiphyseal dysplasia
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Synonyms
  • "SED with elevated blood lysosomal enzymes" EXACT
    "SEDKF" EXACT OMO:0003012
Secondary IDs
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MIM:618392