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UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM
%
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
G G0 G1 G2 G3 G4 GA GB GC GD GE GF GG GH GI GL GM GN GO GP GQ GR GS GT GU GV GW GX GY GZ G%
GA GAB GAC GAD GAG GAI GAL GAM GAN GAP GAR GAS GAT GAU GAV GAY

gangliosidosis GM2 type I

[autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase A is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina; this condition is strongly associated with Ashkenazic Jewish ancestry. ( CSP )]
UMLS (CSP) C0039373
 
Disease or Syndrome
Relation/PAR: Gangliosidoses
enzyme deficiency
Gangliosidoses GM2

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