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Term:2-aminoadipic 2-oxoadipic aciduria
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Accession:DOID:0111453 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: AMOXAD;   alpha-aminoadipic aciduria;   aminoadipic aciduria
 primary_id: OMIM:204750
 xref: ORDO:79154
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2-aminoadipic 2-oxoadipic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 17 76,306,585 76,358,058 RGD:7240710

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Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        inherited metabolic disorder 1884
          amino acid metabolic disorder 326
            2-aminoadipic 2-oxoadipic aciduria 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal recessive disease 2106
                2-aminoadipic 2-oxoadipic aciduria 1
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