Details of Disease

General Information of Disease (ID: DIS96K65)

• Disease Name: Spondylocostal dysostosis 1, autosomal recessive
• Synonyms: SCDO1; vertebral anomalies; spondylothoracic dysplasia; spondylothoracic dysostosis; spondylocostal dysostosis 1, autosomal recessive
• Disease Hierarchy:
  DISAJI27: Autosomal recessive spondylocostal dysostosis
  DISTPWFK: Spondylocostal dysostosis
  DIS96K65: Spondylocostal dysostosis 1, autosomal recessive

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DLL3	TT1C9K6	Definitive	Autosomal recessive	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DLL3	OTLXE1TX	Definitive	Autosomal recessive	[1]

References

• [1] Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet. 2000 Apr;24(4):438-41. doi: 10.1038/74307.