Details of Disease

General Information of Disease (ID: DISN0NX1)

Disease Name 2-aminoadipic 2-oxoadipic aciduria
Synonyms Ketoadipicaciduria; 2-aminoadipic 2-oxoadipic aciduria; alpha-aminoadipic and alpha-ketoadipic aciduria; AMOXAD; alpha-aminoadipic aciduria
Disease Hierarchy
DIS2XEJE: Inborn disorder of lysine and hydroxylysine metabolism
DISN0NX1: 2-aminoadipic 2-oxoadipic aciduria
Disease Identifiers
MONDO ID
MONDO_0008774
UMLS CUI
C1859817
OMIM ID
204750
MedGen ID
395350
Orphanet ID
79154
SNOMED CT ID
782918002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DHTKD1 OTDQLSNT Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.