GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00019 : 'Schindler disease' (Integration tree) (Degradation tree)

Common disease names

Alpha-N-acetylgalactosaminidase deficiency

UMLS CUI

C0342850

UMLS SAB

MeSH (SCR)

UMLS CODE

C536631

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.