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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: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 3-hydroxyacyl-coenzyme A dehydrogenase;   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
 xref: GARD:6867;   NCI:C129929;   ORDO:5
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadl acyl-CoA dehydrogenase, long chain ISO ClinVar Annotator: match by term: Long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:25741868 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
JBrowse link
G Garem2 GRB2 associated regulator of MAPK1 subtype 2 ISO ClinVar Annotator: match by term: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
ClinVar Annotator: match by term: LCHAD Deficiency
ClinVar PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 More... NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO ClinVar Annotator: match by term: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
ClinVar Annotator: match by term: LCHAD Deficiency
ClinVar Annotator: match by OMIM:609016
OMIM
ClinVar
PMID:2019931 PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 More... NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: LCHAD Deficiency ClinVar NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase ClinVar PMID:28492532 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068
JBrowse link
mitochondrial trifunctional protein deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Garem2 GRB2 associated regulator of MAPK1 subtype 2 ISO ClinVar Annotator: match by term: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency
ClinVar Annotator: match by term: Trifunctional protein deficiency with myopathy and neuropathy
ClinVar PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 More... NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency
ClinVar Annotator: match by term: Trifunctional protein deficiency with myopathy and neuropathy
ClinVar Annotator: match by OMIM:609015
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2019931 PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 More... NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency
ClinVar Annotator: match by term: Trifunctional protein deficiency with myopathy and neuropathy
ClinVar Annotator: match by OMIM:609015
OMIM
ClinVar
PMID:8163672 PMID:8651282 PMID:9259266 PMID:9536098 PMID:12754706 More... NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Nutritional and Metabolic Diseases 5591
      disease of metabolism 5591
        lipid metabolism disorder 1023
          Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 5
            mitochondrial trifunctional protein deficiency 3
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          inherited metabolic disorder 2661
            lipid metabolism disorder 1023
              Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 5
                mitochondrial trifunctional protein deficiency 3
paths to the root