GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00386 : 'Nonaka myopathy' (Integration tree) (Synthesis tree)

Common disease names

Distal myopathy with rimmed vacuoles (DMRV)
Distal myopathy, Nonaka type
Nonaka myopathy (NM)

Full list of disease names

Preferred Term	NONAKA MYOPATHY
Preferred Term ABBR	NM
Synonyms (from OMIM and MeSH)	DMRV Distal myopathy with rimmed vacuoles Distal myopathy, Nonaka type MYOPATHY, DISTAL, WITH RIMMED VACUOLES NONAKA DISTAL MYOPATHY

UMLS CUI

C1853926

UMLS SAB

MeSH (SCR)

UMLS CODE

C536816

OMIM DATA

Gene	GNE
Gene Number	603824
Phenotype Number	605820

References

Concept

Wopereis S, Lefeber DJ, Morava E, Wevers RA (2006) Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem 52(4):574-600.

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

(100)