GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00384 : 'Duchenne muscular dystrophy' (Integration tree) (Synthesis tree)

Common disease names

DMD
Muscular dystrophy, pseudohypertrophic progressive, Duchenne type

Full list of disease names

Preferred Term	MUSCULAR DYSTROPHY, DUCHENNE TYPE
Preferred Term ABBR	DMD
Synonyms (from OMIM and MeSH)	DUCHENNE MUSCULAR DYSTROPHY MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE

UMLS CUI

C0013264

UMLS SAB

MeSH

UMLS CODE

D020388

OMIM DATA

Gene	DMD
Gene Number	300377
Phenotype Number	310200

References

Concept

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. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372.

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.