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General Information
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| Term |
mitochondrial complex III deficiency nuclear type 2 |
ID (Ontology) |
DOID:0060351 (Human Disease) |
| Definition |
A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. |
| Also Known As |
"MC3DN2" |
| 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 | 2 | | 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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mitochondrial complex III deficiency nuclear type 2 | 2 | 1 | 1 | for disease ribbon | mitochondrial complex III deficiency nuclear type 2 | -- | 1 | -- | model of | mitochondrial complex III deficiency nuclear type 2 | 2 | 1 | -- |
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Relationships