- Concept UI
- M0328040
- Scope Note
- A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
- Terms
-
Gangliosidoses, GM2
Preferred Term
Term UI
T647014
Date07/27/2005
LexicalTag
NON
ThesaurusID
NLM (2007)
-
Gangliosidoses GM2
Term UI
T358040
Date10/12/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
G(M2) Gangliosidoses
Term UI
T368285
Date10/12/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
GM2 Gangliosidosis
Term UI
T368291
Date10/12/1999
LexicalTag
NON
ThesaurusID
NLM (2000)