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
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1116 CHI3L1 chitinase 3 like 1
4190 MDH1 malate dehydrogenase 1
5621 PRNP prion protein (Kanno blood group)
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 11 - 18 of 18 in total
HPO ID HPO Term
HP:0002015 Dysphagia
HP:0000651 Diplopia
HP:0003581 Adult onset
HP:0001260 Dysarthria
HP:0012332 Abnormal autonomic nervous system physiology
HP:0001824 Weight loss
HP:0000975 Hyperhidrosis
HP:0002104 Apnea
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: August 19, 2024