GGDonto: Genetic Glyco-Diseases Ontology

CON00045 :  'Mucopolysaccharidosis VII'  (Integration tree)  (Degradation tree)
Common disease names	MPS VII  Sly syndrome
Full list of disease names	Preferred Term  MUCOPOLYSACCHARIDOSIS TYPE VII Synonyms (from OMIM and MeSH)  BETA-GLUCURONIDASE DEFICIENCY  GUSB DEFICIENCY  MPS VII  MPS7  SLY SYNDROME
UMLS CUI	C0085132
UMLS SAB	MeSH
UMLS CODE	D016538
OMIM DATA	Gene  GUSB Gene Number  611499 Phenotype Number  253220
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.
GDGDB	(94)

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