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.


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