GGDonto: Genetic Glyco-Diseases Ontology

CON00055 :  'Tay-Sachs disease'  (Integration tree)  (Degradation tree)
Common disease names	GM2-Gangliosidosis, B variant  GM2-gangliosidosis, type I  Hexosaminidase A deficiency
Full list of disease names	Preferred Term  TAY-SACHS DISEASE Preferred Term ABBR  TSD Synonyms (from OMIM and MeSH)  B VARIANT GM2-GANGLIOSIDOSIS  GM2-GANGLIOSIDOSIS, TYPE I  HEXA DEFICIENCY  HEXOSAMINIDASE A DEFICIENCY INCLUDED  GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED  GM2-GANGLIOSIDOSIS, VARIANT B1, INCLUDED  HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED  TAY-SACHS DISEASE, JUVENILE, INCLUDED  TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED  TAY-SACHS DISEASE, VARIANT B1, INCLUDED
UMLS CUI	C0039373
UMLS SAB	MeSH
UMLS CODE	D013661
OMIM DATA	Gene  HEXA Gene Number  606869 Phenotype Number  272800
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. Relations   Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.
GDGDB	(57)

Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)