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
Disease Ontology
DOID:0050433
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4747 NEFL neurofilament light chain
5621 PRNP prion protein (Kanno blood group)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
18039 Nefl neurofilament, light polypeptide
19122 Prnp prion protein
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24686 Prnp prion protein
83613 Nefl neurofilament light chain
The Human Phenotype Ontology
Displaying entries 1 - 10 of 18 in total
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:0001945 Fever
HP:0002529 Neuronal loss in central nervous system
HP:0001251 Ataxia
HP:0000006 Autosomal dominant inheritance
HP:0001824 Weight loss
Displaying 1 entry
Gene ID Gene Symbol Description
5621 PRNP prion protein (Kanno blood group)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024