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Huntington's disease-like 2
Summary
- Synonym
-
- HDL2
- Huntington disease-like 2
- Definition
- A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24.
- Super Class
- neurodegenerative disease
External Links
- Disease Ontology
- DOID:0090104
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4023 | LPL | lipoprotein lipase | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4595 | MUTYH | mutY DNA glycosylase | |
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 4860 | PNP | purine nucleoside phosphorylase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase | |
| 5091 | PC | pyruvate carboxylase | |
| 5226 | PGD | phosphogluconate dehydrogenase |
Related Glycoprotein
