GGDonto: Genetic Glyco-Diseases Ontology

CON00389 :  'EXT1/EXT2-CDG'  'Hereditary multiple exostoses'  (Integration tree)  (Synthesis tree)
Common disease names	EXT1/EXT2-CDG  Exostoses, multiple, type 1  Exostoses, multiple, type 2  Hereditary multiple exostoses (HME)  Hereditary multiple osteochondromas (HMO)  Multiple cartilaginous exostoses
Full list of disease names	Preferred Term  EXOSTOSES, MULTIPLE, TYPE I and TYPE II Synonyms (from OMIM and MeSH)  DIAPHYSEAL ACLASIS  EXT  EXT1  EXT2  Exostoses, multiple, type 1  Exostoses, multiple, type 2  HME  HMO  MULTIPLE CARTILAGINOUS EXOSTOSES  MULTIPLE OSTEOCHONDROMAS  OSTEOCHONDROMATOSIS
UMLS CUI	C0015306,C1851413
UMLS SAB	MeSH (SCR)
UMLS CODE	D005097,C538356
OMIM DATA	Gene  EXT1  EXT2 Gene Number  608177  608210 Phenotype Number  133700  133701
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.   Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. 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.   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.

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