GM1 gangliosidosis type 3
Information
- Disease name
- GM1 gangliosidosis type 3
- Disease ID
- DOID:0080489
- Description
- "A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years." [url:https\://www.ncbi.nlm.nih.gov/pubmed/404231]
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)
- GARD:2431
- Cross Reference ID (Disease Ontology)
- MIM:230650
- Cross Reference ID (Disease Ontology)
- ORDO:79257
- Exact Synonym (Disease Ontology)
- adult-onset GM1 gangliosidosis
- OrphaNumber from OrphaNet (Orphanet)
- 79257