GGDonto: Genetic Glyco-Diseases Ontology

CON00628 :  'Myasthenia, congenital, with tubular aggregates 1'  (Integration tree)  (Synthesis tree)
Common disease names	CMSTA1
Full list of disease names	Preferred Term  MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1 Preferred Term ABBR  CMSTA1
UMLS CUI	C3552335
OMIM DATA	Gene  GFPT1 Gene Number  138292 Phenotype Number  610542
References	Concept   Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Relations   Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.   Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.

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