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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
GM1 gangliosidosis type 3
Summary
- Synonym
-
- adult-onset GM1 gangliosidosis
- Definition
- A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years.
- Super Class
- GM1 gangliosidosis
External Links
- Disease Ontology
- DOID:0080489
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16278 | Beta-galactosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002240 | Hepatomegaly |
| HP:0001260 | Dysarthria |
| HP:0004322 | Short stature |
| HP:0000926 | Platyspondyly |
| HP:0002869 | Flared iliac wing |
| HP:0010729 | Cherry red spot of the macula |
| HP:0001350 | Slurred speech |
| HP:0000280 | Coarse facial features |
| HP:0001761 | Pes cavus |
| HP:0003274 | Hypoplastic acetabulae |
