Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00384 (Tree)
Name Duchenne muscular dystrophy
Aliases DMD
Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Disease name:　Preferred Term MUSCULAR DYSTROPHY, DUCHENNE TYPE
Disease name:　Preferred Term ABBR DMD
Disease name:　Synonyms (from OMIM and MeSH) MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE
DUCHENNE MUSCULAR DYSTROPHY
UMLS CUI C0013264
UMLS SAB MeSH
UMLS CODE D020388
OMIM DATA:　Gene DMD
OMIM DATA:　Gene Number 300377
OMIM DATA:　Phenotype Number 310200
Symptoms, signs and abnormal clinical and laboratory findings
  • Heart Diseases
  • Mental Disorders Diagnosed in Childhood
  • Mobility Limitation
  • Motor Skills Disorders
  • Muscle Weakness
  • Muscular Atrophy (Muscle wasting)
  • Muscular Diseases
  • Neuromuscular Manifestations
  • Signs and Symptoms
  • Cardiomyopathies
  • Muscular Disorders, Atrophic
  • Muscular Dystrophies
References
  • 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.
  • 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.
  • 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.
  • 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.