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General Information
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| Term |
mitochondrial complex III deficiency nuclear type 1 |
ID (Ontology) |
DOID:0080111 (Human Disease) |
| Definition |
A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35. |
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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 1 | 2 | 1 | 1 | for disease ribbon | mitochondrial complex III deficiency nuclear type 1 | -- | 1 | -- | model of | mitochondrial complex III deficiency nuclear type 1 | 2 | 1 | -- |
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Relationships