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General Information
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| Term |
Troyer syndrome |
ID (Ontology) |
DOID:0050886 (Human Disease) |
| Definition |
A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. |
| Also Known As |
"autosomal recessive spastic paraplegia 20" ; "autosomal recessive spastic paraplegia Troyer type" ; "autosomal recessive spastic paraplegia type 20" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 7 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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Troyer syndrome | 7 | 6 | 1 | ameliorates | Troyer syndrome | 3 | -- | -- | exacerbates | Troyer syndrome | 3 | -- | -- | for disease ribbon | Troyer syndrome | -- | 1 | -- | model of | Troyer syndrome | 1 | 1 | -- |
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Relationships