GGDonto: Genetic Glyco-Diseases Ontology

CON00103 :  'Pompe disease'  (Integration tree)  (Degradation tree)
Common disease names	GSD type II  Lysosomal alpha 1,4 Glucosidase Deficiency Disease
Full list of disease names	Preferred Term  GLYCOGEN STORAGE DISEASE II Synonyms (from OMIM and MeSH)  ACID ALPHA-GLUCOSIDASE DEFICIENCY  ACID MALTASE DEFICIENCY  ALPHA-1,4-GLUCOSIDASE DEFICIENCY  AMD  CARDIOMEGALIA GLYCOGENICA DIFFUSA  GAA DEFICIENCY  GLYCOGENOSIS, GENERALIZED, CARDIAC FORM  GSD II  GSD2  POMPE DISEASE
UMLS CUI	C0017921
UMLS SAB	MeSH
UMLS CODE	D006009
OMIM DATA	Gene  GAA Gene Number  606800 Phenotype Number  232300
GDGDB	(74)

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