|
General Information
|
| Term |
Huntington's disease-like 2 |
ID (Ontology) |
DOID:0090104 (Human Disease) |
| 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. |
| Also Known As |
"HDL2" ; "Huntington disease-like 2" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 2 | | Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Alleles | Genes | Human Disease Models |
|---|
Huntington's disease-like 2 | 2 | 2 | 1 | for disease ribbon | Huntington's disease-like 2 | -- | 1 | -- | model of | Huntington's disease-like 2 | 2 | 1 | -- |
|