GGDonto: Genetic Glyco-Diseases Ontology

CON00030 :  'Hurler-Scheie syndrome'  (Integration tree)  (Degradation tree)
Common disease names	MPS1-HS  Mucopolysaccharidosis type IH/S
Full list of disease names	Preferred Term  HURLER-SCHEIE SYNDROME Synonyms (from OMIM and MeSH)  MPS1-HS  MUCOPOLYSACCHARIDOSIS TYPE IH/S
UMLS CUI	C0086431
UMLS SAB	MeSH
UMLS CODE	D008059
OMIM DATA	Gene  IDUA Gene Number  252800 Phenotype Number  607015
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	(84)

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