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General Information
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| Term |
multiple mitochondrial dysfunctions syndrome 1 |
ID (Ontology) |
DOID:0080133 (Human Disease) |
| Definition |
A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. |
| Also Known As |
"NFU1 deficiency" |
| 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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No relevant records available
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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 |
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multiple mitochondrial dysfunctions syndrome 1 | 3 | for disease ribbon | multiple mitochondrial dysfunctions syndrome 1 | 3 | model of | multiple mitochondrial dysfunctions syndrome 1 | 3 |
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Relationships