GGDonto: Genetic Glyco-Diseases Ontology

CON00023 :  'Galactosialidosis'  (Integration tree)  (Degradation tree)
Common disease names	Combined deficiency of sialidase AND beta galactosidase
Full list of disease names	Preferred Term  GALACTOSIALIDOSIS Preferred Term ABBR  GSL Synonyms (from OMIM and MeSH)  CATHEPSIN A DEFICIENCY  GOLDBERG SYNDROME  LYSOSOMAL PROTECTIVE PROTEIN DEFICIENCY  NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY  NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION  NGBE  PPCA DEFICIENCY  PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY
UMLS CUI	C0268233
UMLS SAB	MeSH (SCR)
UMLS CODE	C536411
OMIM DATA	Gene  CTSA Gene Number  613111 Phenotype Number  256540
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.
GDGDB	(114)

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