GGDonto: Genetic Glyco-Diseases Ontology
 CON00379 :  'Muscular dystrophy, limb-girdle, type 2M'  (Integration tree)  (Synthesis tree)

Common disease names  FKTN-CDG (cong. muscular dystrophy spectrum)
 Limb-girdle muscular dystrophy type 2M (LGMD2M)
 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (MDDGC4)
Full list of disease names
Preferred Term  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4
Preferred Term ABBR  MDDGC4
Synonyms (from OMIM and MeSH)  LGMD2M
 Limb-girdle muscular dystrophy type 2M
 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
UMLS CUI  C1969040
UMLS SAB  MeSH (SCR)
UMLS CODE  C566912
OMIM DATA
Gene  FKTN
Gene Number  607440
Phenotype Number  611588
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 (104)


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