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General Information
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| Term |
combined oxidative phosphorylation deficiency 21 |
ID (Ontology) |
DOID:0111465 (Human Disease) |
| Definition |
A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. |
| Also Known As |
"COXPD21" |
| 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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combined oxidative phosphorylation deficiency 21 | 1 | for disease ribbon | combined oxidative phosphorylation deficiency 21 | 1 | model of | combined oxidative phosphorylation deficiency 21 | 1 |
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Relationships