GM1 gangliosidosis type 2
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 |
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- 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