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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
fatal familial insomnia
Summary
- Definition
- A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.
- Super Class
- prion disease
External Links
- Disease Ontology
- DOID:0050433
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein | |
| P36222 | Chitinase-3-like protein 1 | |
| P40925 | Malate dehydrogenase, cytoplasmic |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001336 | Myoclonus |
| HP:0006790 | Cerebral cortex with spongiform changes |
| HP:0000726 | Dementia |
| HP:0002019 | Constipation |
| HP:0000016 | Urinary retention |
| HP:0002529 | Neuronal loss in central nervous system |
| HP:0001251 | Ataxia |
| HP:0100785 | Insomnia |
| HP:0001945 | Fever |
| HP:0000006 | Autosomal dominant inheritance |
