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General Information
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| Term |
triosephosphate isomerase deficiency |
ID (Ontology) |
DOID:0050884 (Human Disease) |
| Definition |
A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. |
| Also Known As |
"Triose phosphate-isomerase 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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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 16 | | 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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triosephosphate isomerase deficiency | 20 | 2 | 1 | ameliorates | triosephosphate isomerase deficiency | 1 | -- | -- | for disease ribbon | triosephosphate isomerase deficiency | -- | 1 | -- | model of | triosephosphate isomerase deficiency | 17 | 1 | -- | DOES NOT model | triosephosphate isomerase deficiency | 4 | -- | -- |
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Relationships