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Concept information

Preferred term

Gangliosidoses, GM2  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Gangliosidoses GM2
  • Gangliosidosis, GM2
  • GM2 Gangliosidoses
  • G(M2) Gangliosidoses
  • GM2, Gangliosidoses
  • GM2 Gangliosidosis

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.

History note

  • 2007 (2000)

In other languages

  • Finnish

  • aikuisen GM2-gangliosidoosi
  • gangliosidoosi GM2
  • gangliosidosis GM2
  • gangliosidosis GM2 adultorum
  • gangliosidosis GM2 juvenilis
  • gangliosidosis GM2 NAS
  • GM2-gangliosidoosi
  • GM2-gangliosidos
  • GM2-gangliosidos juvenil
  • GM2-gangliosidos UNS
  • GM2-gangliosidos vuxen
  • GM2-proteiiniaktivaatorin puute
  • juveniili GM2-gangliosidoosi
  • morbus Sandhoff
  • morbus Tay-Sachs
  • Sandhoffin tauti
  • Sandhoffs sjukdom
  • tarkemmin määrittämätön GM2-gangliosidoosi
  • Tay-Sachs sjukdom
  • Tay-Sachsin tauti
  • Swedish

URI

http://www.yso.fi/onto/mesh/D020143

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