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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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 DHTKD1 on chromosome 10p14. (DO)
Synonyms:exact_synonym: AMOXAD;   alpha-aminoadipic aciduria;   aminoadipic aciduria
 primary_id: OMIM:204750
 xref: ORDO:79154
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:204750
ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria
ClinVar Annotator: match by term: Aminoadipic aciduria
OMIM
ClinVar
PMID:23141293 PMID:25741868 PMID:25860818 PMID:26141459 PMID:28492532 NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        inherited metabolic disorder 2255
          amino acid metabolic disorder 433
            2-aminoadipic 2-oxoadipic aciduria 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                2-aminoadipic 2-oxoadipic aciduria 1
paths to the root