GGDonto: Genetic Glyco-Diseases Ontology

CON00035 :  'Sanfilippo syndrome B'  (Integration tree)  (Degradation tree)
Common disease names	MPS IIIB  Mucopolysaccharidosis type IIIB
Full list of disease names	Preferred Term  MUCOPOLYSACCHARIDOSIS TYPE IIIB Synonyms (from OMIM and MeSH)  MPS IIIB  MPS3B  Mucopolysaccharidosis type 3B  N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY  NAGLU DEFICIENCY  SANFILIPPO SYNDROME B
UMLS CUI	C0086648
UMLS SAB	ICD-10-CM
UMLS CODE	E76.22
OMIM DATA	Gene  NAGLU Gene Number  609701 Phenotype Number  252920
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	(87)

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