GGDonto: Genetic Glyco-Diseases Ontology

CON00058 :  'Sandhoff disease'  (Integration tree)  (Degradation tree)
Common disease names	GM2-gangliosidosis, type II
Full list of disease names	Preferred Term  SANDHOFF DISEASE Synonyms (from OMIM and MeSH)  GM2-GANGLIOSIDOSIS, TYPE II  HEXOSAMINIDASES A AND B DEFICIENCY INCLUDED  SANDHOFF DISEASE, ADULT TYPE, INCLUDED  SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED  SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED
UMLS CUI	C0036161
UMLS SAB	MeSH
UMLS CODE	D012497
OMIM DATA	Gene  HEXB Gene Number  606873 Phenotype Number  268800
References	Concept   Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation.   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	(58)

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