GGDonto: Genetic Glyco-Diseases Ontology

CON00064 :  'Fabry disease'  (Integration tree)  (Degradation tree)
Common disease names	Alpha-galactosidase A deficiency
Full list of disease names	Preferred Term  FABRY DISEASE Synonyms (from OMIM and MeSH)  ALPHA-GALACTOSIDASE A DEFICIENCY  ANDERSON-FABRY DISEASE  ANGIOKERATOMA CORPORIS DIFFUSUM  CERAMIDE TRIHEXOSIDASE DEFICIENCY  GLA DEFICIENCY  HEREDITARY DYSTOPIC LIPIDOSIS INCLUDED  FABRY DISEASE, CARDIAC VARIANT, INCLUDED
UMLS CUI	C0002986
UMLS SAB	MeSH
UMLS CODE	D000795
OMIM DATA	Gene  GLA Gene Number  300644 Phenotype Number  301500
References	Concept   Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid 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	(59)

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