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About: triosephosphate isomerase deficiency     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • triosephosphate isomerase deficiency
described by
id
  • DOID:0050884
created_by
  • lschriml
creation_date
  • 2014-08-07T11:44:31Z
database_cross_reference
  • GARD:5287
  • OMIM:615512
has_exact_synonym
  • Triose phosphate-isomerase deficiency (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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