GGDonto: Genetic Glyco-Diseases Ontology

CON00011 :  'Beta-mannosidosis'  (Integration tree)  (Degradation tree)
Common disease names	Beta-mannosidase deficiency
Full list of disease names	Preferred Term  MANNOSIDOSIS, BETA A, LYSOSOMAL Preferred Term ABBR  MANSB Synonyms (from OMIM and MeSH)  BETA-MANNOSIDASE DEFICIENCY  BETA-MANNOSIDOSIS  LYSOSOMAL BETA-MANNOSIDASE DEFICIENCY
UMLS CUI	C0342849
UMLS SAB	MeSH (SCR)
UMLS CODE	C538599
OMIM DATA	Gene  MANBA Gene Number  609489 Phenotype Number  248510
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	(77)

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