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About: 2-aminoadipic 2-oxoadipic 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
  • 2-aminoadipic 2-oxoadipic aciduria
described by
id
  • DOID:0111453
database_cross_reference
  • OMIM:204750
  • ORDO:79154
has_exact_synonym
  • AMOXAD (en)
  • alpha-aminoadipic aciduria (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has _material_basis_in homozygous or compound heterozygous mutation in DHTKD1 on chromosome 10p14.
is topic of
is annotatedSource of
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