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DO Term : triosephosphate isomerase deficiency [DOID:0050884] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MESH:C566029,
  • 615512,
  • OMIM:615512,
  • Triose phosphate-isomerase deficiency,
  • GARD:5287
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

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Ontology Term --> Direct children

Ontology Term --> Direct parents