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ONTOLOGY REPORT - ANNOTATIONS


Term:Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
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Accession:DOID:9002882 term browser browse the term
Synonyms:exact_synonym: LCHAD deficiency;   LCHAD deficiency with maternal acute fatty liver of pregnancy;   deficiency of long-chain acyl-CoA dehydrogenase;   long-chain acyl-CoA dehydrogenase deficiency
 broad_synonym: HADHA-RELATED DISORDER
 primary_id: MESH:C535690
 alt_id: OMIM:609016;   RDO:0000950;   RDO:0009270
For additional species annotation, visit the Alliance of Genome Resources.


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Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Garem2 GRB2 associated regulator of MAPK1 subtype 2 JBrowse link 6 27,631,364 27,643,076 RGD:8554872
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha JBrowse link 6 27,589,840 27,628,921 RGD:7240710
RGD:8554872
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta JBrowse link 6 27,555,408 27,589,539 RGD:8554872
mitochondrial trifunctional protein deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Garem2 GRB2 associated regulator of MAPK1 subtype 2 JBrowse link 6 27,631,364 27,643,076 RGD:8554872
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha JBrowse link 6 27,589,840 27,628,921 RGD:7240710
RGD:8554872
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta JBrowse link 6 27,555,408 27,589,539 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 741
          Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 3
            mitochondrial trifunctional protein deficiency 3
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            lipid metabolism disorder 741
              Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 3
                mitochondrial trifunctional protein deficiency 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.