GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00398 : 'Autosomal recessive multiple epiphyseal dysplasia' (Integration tree) (Synthesis tree)

Common disease names

Epiphyseal dysplasia, multiple, 4 (EDM4)

Full list of disease names

Preferred Term	EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
Preferred Term ABBR	EDM4
Synonyms (from OMIM and MeSH)	MULTIPLE EPIPHYSEAL DYSPLASIA WITH BILAYERED PATELLAE MULTIPLE EPIPHYSEAL DYSPLASIA WITH CLUBFOOT MULTIPLE EPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE

UMLS CUI

C1847593

UMLS SAB

MeSH (SCR)

UMLS CODE

C535504

OMIM DATA

Gene	SLC26A2
Gene Number	606718
Phenotype Number	226900

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.
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.
  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.