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General Information
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| Term |
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities |
ID (Ontology) |
DOID:0081419 (Human Disease) |
| Definition |
A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later. |
| Also Known As |
"DYSTONIA 29, CHILDHOOD-ONSET" ; "DYTOABG" ; "MECR-related neurologic disorder" (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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| 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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childhood-onset dystonia with optic atrophy and basal ganglia abnormalities | 7 | 2 | 1 | for disease ribbon | childhood-onset dystonia with optic atrophy and basal ganglia abnormalities | -- | 1 | -- | model of | childhood-onset dystonia with optic atrophy and basal ganglia abnormalities | 7 | 1 | -- |
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Relationships