Preferred Name

Gangliosidoses [Disease/Finding]
Synonyms

Ganglioside Storage Diseases

Ganglioside Storage Disorders

Gangliosidoses

Gangliosidosis

ID

http://purl.bioontology.org/ontology/NDFRT/N0000001308

altLabel

Ganglioside Storage Diseases

Ganglioside Storage Disorders

Gangliosidoses

Gangliosidosis

cui

C0017083

MESH DEFINITION

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.

MESH DUI

D005733

MeSH name

Gangliosidoses

MESH UI

M0008988

NDFRT kind

DISEASE_KIND

notation

N0000001308

NUI

N0000001308

prefLabel

Gangliosidoses [Disease/Finding]

SNOMED CID

50967008

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000002791

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