GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00407 : 'Ehlers-Danlos syndrome, type VI' (Integration tree) (Synthesis tree)

Common disease names

Ehlers-Danlos syndrome, kyphoscoliotic type
Nevo syndrome

Full list of disease names

Preferred Term	EHLERS-DANLOS SYNDROME, TYPE VI
Preferred Term ABBR	EDS6
Synonyms (from OMIM and MeSH)	EDS VI EDS6A, FORMERLY EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE EHLERS-DANLOS SYNDROME, TYPE VIA, FORMERLY Ehlers-Danlos syndrome, type 6 NEVO SYNDROME

UMLS CUI

C0268342

UMLS SAB

MeSH (SCR)

UMLS CODE

C536198

OMIM DATA

Gene	PLOD1
Gene Number	153454
Phenotype Number	225400

References

Concept

Wopereis S, Lefeber DJ, Morava E, Wevers RA (2006) Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem 52(4):574-600.

Relations

  Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
  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.

GDGDB

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