GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00408 : 'Bruck syndrome 2' (Integration tree) (Synthesis tree)

Common disease names

BRKS2
Osteogenesis imperfecta with congenital joint contractures

Full list of disease names

Preferred Term	BRUCK SYNDROME 2
Preferred Term ABBR	BRKS2
Synonyms (from OMIM and MeSH)	OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES

UMLS CUI

C1836602

UMLS SAB

MeSH (SCR)

UMLS CODE

C537407

OMIM DATA

Gene	PLOD2
Gene Number	601865
Phenotype Number	609220

References

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

(110)