GM1 gangliosidosis type 2

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Information
Disease name
GM1 gangliosidosis type 2
Disease ID
DOID:0080501
Description
"A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12644936]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:3322
Cross Reference ID (Disease Ontology)
MIM:230600
Exact Synonym (Disease Ontology)
juvenile GM1 gangliosidosis
OrphaNumber from OrphaNet (Orphanet)
79256