Search on: G(M2) GANGLIOSIDOSES 
Descriptors Found: 1
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Descriptor English:   Gangliosidoses, GM2 
Descriptor Spanish:   gangliosidosis GM2 
Descriptor Portuguese:   Gangliosidoses GM2 
Synonyms English:   G(M2) Gangliosidoses
GM2 Gangliosidose
GM2 Gangliosidoses
GM2 Gangliosidosis
GM2, Gangliosidoses
Gangliosidose, GM2
Gangliosidoses GM2
Gangliosidosis, GM2  
Tree Number:   C10.228.140.163.100.435.825.300.300
C16.320.565.189.435.825.300.300
C16.320.565.398.641.803.350.300
C16.320.565.595.554.825.300.300
C18.452.132.100.435.825.300.300
C18.452.584.687.803.350.300
C18.452.648.189.435.825.300.300
C18.452.648.398.641.803.350.300
C18.452.648.595.554.825.300.300
Definition English:   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. 
See Related English:   beta-N-Acetylhexosaminidases
 
History Note English:   2007 (2000) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   34238 
Unique Identifier:   D020143 

Occurrence in VHL:
 

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