GGDonto: Genetic Glyco-Diseases Ontology

CON00008 :  'Alpha-mannosidosis'  (Integration tree)  (Degradation tree)
Common disease names	Alpha-mannosidase B deficiency
Full list of disease names	Preferred Term  MANNOSIDOSIS, ALPHA B, LYSOSOMAL Preferred Term ABBR  MANSA Synonyms (from OMIM and MeSH)  ALPHA-MANNOSIDASE B DEFICIENCY  ALPHA-MANNOSIDOSIS  LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY
UMLS CUI	C0024748
UMLS SAB	MeSH
UMLS CODE	D008363
OMIM DATA	Gene  MAN2B1 Gene Number  609458 Phenotype Number  248500
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	(117)

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