Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
GM1 gangliosidosis type 2
Summary
- Synonym
-
- juvenile GM1 gangliosidosis
- Definition
- 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.
- Super Class
- GM1 gangliosidosis
External Links
- Disease Ontology
- DOID:0080501
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16278 | Beta-galactosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000926 | Platyspondyly |
| HP:0001643 | Patent ductus arteriosus |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001387 | Joint stiffness |
| HP:0002119 | Ventriculomegaly |
| HP:0000212 | Gingival overgrowth |
| HP:0002650 | Scoliosis |
| HP:0000943 | Dysostosis multiplex |
| HP:0001744 | Splenomegaly |
| HP:0002753 | Thin bony cortex |
