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General Information
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| Term |
mitochondrial DNA depletion syndrome 4b |
ID (Ontology) |
DOID:0080123 (Human Disease) |
| Definition |
A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene (POLG) on chromosome 15q26. |
| Also Known As |
"mitochondrial neurogastrointestinal encephalopathy syndrome" |
| 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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| 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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mitochondrial DNA depletion syndrome 4b | 1 | 1 | for disease ribbon | mitochondrial DNA depletion syndrome 4b | 1 | -- | model of | mitochondrial DNA depletion syndrome 4b | 1 | -- |
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Relationships