GGDonto: Genetic Glyco-Diseases Ontology

CON00041 :  'Mucopolysaccharidosis VI'  (Integration tree)  (Degradation tree)
Common disease names	MPS VI, Maroteaux-Lamy syndrome
Full list of disease names	Preferred Term  MUCOPOLYSACCHARIDOSIS TYPE VI Synonyms (from OMIM and MeSH)  ARSB DEFICIENCY  ARYLSULFATASE B DEFICIENCY  MAROTEAUX-LAMY SYNDROME  MPS VI  MPS6  N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY
UMLS CUI	C0026709
UMLS SAB	MeSH
UMLS CODE	D009087
OMIM DATA	Gene  ARSB Gene Number  611542 Phenotype Number  253200
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	(113) (93)

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