ONTOLOGY REPORT - ANNOTATIONS


Term:2-Aminoadipic 2-Oxoadipic Aciduria
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Accession:DOID:9004567 term browser browse the term
Synonyms:exact_synonym: AMOXAD;   aminoadipic aciduria
 primary_id: OMIM:204750
 alt_id: RDO:9000155
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2-Aminoadipic 2-Oxoadipic Aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 17 76,306,585 76,358,058 RGD:7240710
RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 JBrowse link 8 63,599,907 63,637,327 RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            2-Aminoadipic 2-Oxoadipic Aciduria 7
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              2-Aminoadipic 2-Oxoadipic Aciduria 7
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.