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General Information
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| Term |
mitochondrial pyruvate carrier deficiency |
ID (Ontology) |
DOID:0080363 (Human Disease) |
| Definition |
A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. |
| 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 | 3 | | 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 pyruvate carrier deficiency | 3 | 1 | 1 | for disease ribbon | mitochondrial pyruvate carrier deficiency | -- | 1 | -- | model of | mitochondrial pyruvate carrier deficiency | 3 | 1 | -- |
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Relationships