FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondylocostal dysostosis 4 ID (Ontology) DOID:0112364 (Human Disease)
Definition A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1.
Also Known As "autosomal recessive spondylocostal dysostosis 4" ; "SCDO4"
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 Genes
 spondylocostal dysostosis 4       3
 for disease ribbon | spondylocostal dysostosis 4       3
 model of | spondylocostal dysostosis 4       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
spinal disease                   |
 |__spondylocostal dysostosis____|
dysostosis                       |
 |__spondylocostal dysostosis____|
                                 spondylocostal dysostosis 4  3 rec.
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Is a spondylocostal dysostosis
autosomal recessive disease
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Synonyms
  • "autosomal recessive spondylocostal dysostosis 4" EXACT
    "SCDO4" EXACT OMO:0003012
Secondary IDs
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MIM:613686