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General Information
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| Term |
mitochondrial complex II deficiency |
ID (Ontology) |
DOID:0060537 (Human Disease) |
| Definition |
A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. |
| Also Known As |
"isolated mitochondrial respiratory chain complex II deficiency" ; "isolated succinate-coenzyme Q reductase deficiency" ; "isolated succinate-CoQ reductase deficiency" (for all, see Synonyms field below) |
| 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 | 4 | | Human Disease Models (FBhh) | DOID | 4 |
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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 II deficiency | 4 | 4 | 4 | for disease ribbon | mitochondrial complex II deficiency | -- | 2 | -- | model of | mitochondrial complex II deficiency | 4 | 2 | -- |
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Relationships