GGDonto: Genetic Glyco-Diseases Ontology

CON00034 :  'Sanfilippo syndrome A'  (Integration tree)  (Degradation tree)
Common disease names	MPS IIIA  Mucopolysaccharidosis type IIIA
Full list of disease names	Preferred Term  MUCOPOLYSACCHARIDOSIS TYPE IIIA Synonyms (from OMIM and MeSH)  HEPARAN SULFATE SULFATASE DEFICIENCY  MPS IIIA  MPS3A  Mucopolysaccharidosis type 3A  SANFILIPPO SYNDROME A  SULFAMIDASE DEFICIENCY
UMLS CUI	C0086647
UMLS SAB	MeSH
UMLS CODE	D009084
OMIM DATA	Gene  SGSH Gene Number  605270 Phenotype Number  252900
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   Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.
GDGDB	(86)

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