GGDonto: Genetic Glyco-Diseases Ontology

CON00040 :  'Morquio syndrome B'  (Integration tree)  (Degradation tree)
Common disease names	MPS IVB  Morquio-like syndrome  Mucopolysaccharidosis type IVB
Full list of disease names	Preferred Term  MUCOPOLYSACCHARIDOSIS TYPE IVB Synonyms (from OMIM and MeSH)  MORQUIO SYNDROME B  MPS IVB  MPS4B  Morquio-like syndrome  Mucopolysaccharidosis type 4B
UMLS CUI	C0086652
UMLS SAB	MeSH
UMLS CODE	D009085
OMIM DATA	Gene  GLB1 Gene Number  611458 Phenotype Number  253010
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	(91)

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