GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00391 : 'Macular corneal dystrophy' (Integration tree) (Synthesis tree)

Common disease names

Macular corneal dystrophy Type I
Macular corneal dystrophy Type II

Full list of disease names

Preferred Term	MACULAR DYSTROPHY, CORNEAL, 1
Preferred Term ABBR	MCDC1
Synonyms (from OMIM and MeSH)	CORNEAL DYSTROPHY, MACULAR TYPE GROENOUW TYPE II CORNEAL DYSTROPHY MACULAR CORNEAL DYSTROPHY, TYPE I MCD
INCLUDED	MACULAR CORNEAL DYSTROPHY, TYPE II, INCLUDED

UMLS CUI

C1636149,C1691013

UMLS SAB

MeSH (SCR)

UMLS CODE

C537834,C563270

OMIM DATA

Gene	CHST6
Gene Number	605294
Phenotype Number	217800

References

Concept

  Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464.
  Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways.
  Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
  Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
  Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
  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

  Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464.
  Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
  Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
  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.