OBO ID: DOID:0050884
Term Name: triosephosphate isomerase deficiency Search Ontology:
Synonyms:
  • Triose phosphate-isomerase deficiency
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. (7)
References:
Ontology: Human Disease   ( DOID:0050884 )
Relationships
is a type of:
OTHER triosephosphate isomerase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TPI1 Hemolytic anemia due to triosephosphate isomerase deficiency 615512
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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