GGDonto: Genetic Glyco-Diseases Ontology

CON00032 :  'Mucopolysaccharidosis II'  (Integration tree)  (Degradation tree)
Common disease names	Hunter syndrome  MPS II
Full list of disease names	Preferred Term  MUCOPOLYSACCHARIDOSIS TYPE II Synonyms (from OMIM and MeSH)  HUNTER SYNDROME  IDS DEFICIENCY  IDURONATE 2-SULFATASE DEFICIENCY  MPS II  MPS2  SIDS DEFICIENCY  SULFOIDURONATE SULFATASE DEFICIENCY
UMLS CUI	C0026705
UMLS SAB	MeSH
UMLS CODE	D016532
OMIM DATA	Gene  IDS Gene Number  300823 Phenotype Number  309900
References	Concept   Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses.   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. Relations   Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197.   Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.
GDGDB	(85)

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