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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 the DHTKD1 gene on chromosome 10p14. (DO)
Synonyms:exact_synonym: 2-ketoadipic aciduria;   AAKAD;   AMOXAD;   alpha-aminoadipic aciduria;   alpha-aminoadipic and alpha-ketoadipic aciduria;   aminoadipic aciduria
 primary_id: OMIM:204750
 xref: ORDO:79154

show annotations for term's descendants           Sort by:
2-aminoadipic 2-oxoadipic aciduria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria | ClinVar Annotator: match by term: ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA
PMID:8069629 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23141293 More... NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    Nutritional and Metabolic Diseases 8223
      disease of metabolism 8223
        inherited metabolic disorder 6191
          amino acid metabolic disorder 1522
            2-aminoadipic 2-oxoadipic aciduria 2
Path 2
Term Annotations click to browse term
  disease 21118
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18310
        genetic disease 18254
          monogenic disease 10256
            autosomal genetic disease 9403
              autosomal recessive disease 6471
                2-aminoadipic 2-oxoadipic aciduria 2
paths to the root