GGDonto: Genetic Glyco-Diseases Ontology

CON00037 :  'Sanfilippo syndrome D'  (Integration tree)  (Degradation tree)
Common disease names	MPS IIID  Mucopolysaccharidosis type IIID
Full list of disease names	Preferred Term  MUCOPOLYSACCHARIDOSIS TYPE IIID Synonyms (from OMIM and MeSH)  MPS IIID  Mucopolysaccharidosis type 3D  N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY  SANFILIPPO SYNDROME D
UMLS CUI	C0086650
UMLS SAB	MeSH
UMLS CODE	D009084
OMIM DATA	Gene  GNS Gene Number  607664 Phenotype Number  252940
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	(89)

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