GGDonto: Genetic Glyco-Diseases Ontology

CON00073 :  'Krabbe disease'  (Integration tree)  (Degradation tree)
Common disease names	Galactosylceramide beta-galactosidase deficiency  Globoid cell leukodystrophy  Krabbe leukodystrophy  Leukodystrophy, globoid cell
Full list of disease names	Preferred Term  KRABBE DISEASE Synonyms (from OMIM and MeSH)  GALACTOCEREBROSIDASE DEFICIENCY  GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY  GALC DEFICIENCY  GCL  GLD  GLOBOID CELL LEUKODYSTROPHY  GLOBOID CELL LEUKOENCEPHALOPATHY
UMLS CUI	C0023521
UMLS SAB	MeSH
UMLS CODE	D007965
OMIM DATA	Gene  GALC Gene Number  606890 Phenotype Number  245200
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	(62)

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