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About: D-2-hydroxyglutaric aciduria     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
  • D-2-hydroxyglutaric aciduria
described by
id
  • DOID:0050575
database_cross_reference
  • GARD:5661
  • OMIM:PS600721
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
is subClassOf of
is topic of
is annotatedSource of
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