GGDonto: Genetic Glyco-Diseases Ontology

CON00006 :  'Fucosidosis'  (Integration tree)  (Degradation tree)
Full list of disease names	Preferred Term  FUCOSIDOSIS Synonyms (from OMIM and MeSH)  ALPHA-L-FUCOSIDASE DEFICIENCY
UMLS CUI	C0016788
UMLS SAB	MeSH
UMLS CODE	D005645
OMIM DATA	Gene  FUCA1 Gene Number  612280 Phenotype Number  230000
References	Concept   Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.1 Defects in glycoprotein 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	(75)

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