Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00405 (Tree)
Name LFNG-CDG
Aliases SCDO3
Spondylocostal dysostosis 3, autosomal recessive
Disease name:　Preferred Term SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
Disease name:　Preferred Term ABBR SCDO3
UMLS CUI C1853296
UMLS SAB MeSH (SCR)
UMLS CODE C535781
OMIM DATA:　Gene LFNG
OMIM DATA:　Gene Number 602576
OMIM DATA:　Phenotype Number 609813
Symptoms, signs and abnormal clinical and laboratory findings
  • Bone Diseases
  • Bone Diseases, Developmental
  • Musculoskeletal Abnormalities
  • Musculoskeletal Diseases
  • Spinal Curvatures
  • Spinal Diseases
  • Scoliosis
  • Spondylosis
References
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG.
  • Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672.
  • Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464.
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
  • Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  • Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016.
  • Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
  • Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
GGDB (Gene Symbol)
Link to the GlycoGene Database		 LFNG