FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term 2-aminoadipic 2-oxoadipic aciduria ID (Ontology) DOID:0111453 (Human Disease)
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 the DHTKD1 gene on chromosome 10p14.
Also Known As "alpha-aminoadipic aciduria" ; "AMOXAD"
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 Genes
 2-aminoadipic 2-oxoadipic aciduria       1
 for disease ribbon | 2-aminoadipic 2-oxoadipic aciduria       1
 model of | 2-aminoadipic 2-oxoadipic aciduria       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   2-aminoadipic 2-oxoadipic aciduria  1 rec.
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Is a autosomal recessive disease
amino acid metabolic disorder
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Synonyms
  • "alpha-aminoadipic aciduria" EXACT
    "AMOXAD" EXACT OMO:0003012
Secondary IDs
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MIM:204750
ORDO:79154