GGDonto: Genetic Glyco-Diseases Ontology

CON00036 :  'Sanfilippo syndrome C'  (Integration tree)  (Degradation tree)
Common disease names	MPS IIIC  Mucopolysaccharidosis type IIIC
Full list of disease names	Preferred Term  MUCOPOLYSACCHARIDOSIS TYPE IIIC Synonyms (from OMIM and MeSH)  ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY  MPS IIIC  MPS3C  Mucopolysaccharidosis type 3C  SANFILIPPO SYNDROME C
UMLS CUI	C0086649
UMLS SAB	ICD-10-CM
UMLS CODE	E76.22
OMIM DATA	Gene  HGSNAT Gene Number  610453 Phenotype Number  252930
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	(88)

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