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General Information
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| Term |
progressive myoclonus epilepsy 6 |
ID (Ontology) |
DOID:0111449 (Human Disease) |
| Definition |
A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. |
| Also Known As |
"EPM6" ; "GOSR2-related progressive myoclonus ataxia" ; "North Sea progressive myoclonus epilepsy" (for all, see Synonyms field below) |
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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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| 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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| Genes | Human Disease Models |
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progressive myoclonus epilepsy 6 | 1 | 1 | for disease ribbon | progressive myoclonus epilepsy 6 | 1 | -- | model of | progressive myoclonus epilepsy 6 | 1 | -- |
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Relationships