Concept information
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Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
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Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Preferred term
Gangliosidoses
Type
-
Topical Descriptor
Broader concept
Narrower concepts
Entry terms
- Ganglioside Storage Disease
- Ganglioside Storage Diseases
- Ganglioside Storage Disorder
- Ganglioside Storage Disorders
- Gangliosidosis
- Storage Disease, Ganglioside
- Storage Diseases, Ganglioside
- Storage Disorder, Ganglioside
- Storage Disorders, Ganglioside
Note
- coordinate IM with specific ganglioside (IM) but GANGLIOSIDOSIS, GM1 and GANGLIOSIDOSES, GM2 are available
Scope note
- A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
History note
- 1992(1976)
In other languages
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Finnish
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gangliosidoosi
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gangliosidosis
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Swedish
URI
http://www.yso.fi/onto/mesh/D005733
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