GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00382 : 'Muscular dystrophy, limb-girdle, type 2I' (Integration tree) (Synthesis tree)

Common disease names

FKRP-CDG (cong. muscular dystrophy spectrum)
Limb-girdle muscular dystrophy type 2I (LGMD2I)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5)

Full list of disease names

Preferred Term	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
Preferred Term ABBR	MDDGC5
Synonyms (from OMIM and MeSH)	LGMD2I Limb-girdle muscular dystrophy type 2I MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED

UMLS CUI

C1846672

UMLS SAB

MeSH (SCR)

UMLS CODE

C564612

OMIM DATA

Gene	FKRP
Gene Number	606596
Phenotype Number	607155

References

Concept

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.

Relations

  Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  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.
  Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
  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

(107)