GGDonto: Genetic Glyco-Diseases Ontology

CON00005 :  'Aspartylglucosaminuria'  (Integration tree)  (Degradation tree)
Full list of disease names	Preferred Term  ASPARTYLGLUCOSAMINURIA Preferred Term ABBR  AGU Synonyms (from OMIM and MeSH)  AGA DEFICIENCY  ASPARTYLGLUCOSAMINIDASE DEFICIENCY  ASPARTYLGLYCOSAMINURIA  GLYCOASPARAGINASE  GLYCOSYLASPARAGINASE DEFICIENCY
UMLS CUI	C0268225
UMLS SAB	ICD-10-CM
UMLS CODE	E77.1
OMIM DATA	Gene  AGA Gene Number  613228 Phenotype Number  208400
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	(79)

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