GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00380 : 'Cardiomyopathy, dilated, 1X' (Integration tree) (Synthesis tree)

Common disease names

Cardiomyopathy, dilated, 1X (CMD1X)
Dilated cardiomyopathy with mild or no proximal muscle weakness
FKTN-CDG (cong. muscular dystrophy spectrum)

Full list of disease names

Preferred Term	CARDIOMYOPATHY, DILATED, 1X
Preferred Term ABBR	CMD1X
Synonyms (from OMIM and MeSH)	CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS Dilated cardiomyopathy with mild or no proximal muscle weakness

UMLS CUI

C1969024

UMLS SAB

MeSH (SCR)

UMLS CODE

C566907

OMIM DATA

Gene	FKTN
Gene Number	607440
Phenotype Number	611615

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

(105)