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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 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 9:73,833,368...73,871,857
Ensembl chr 9:73,833,388...73,871,888
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, PMID:9003853, PMID:9266371, PMID:10352164, PMID:10518281, PMID:11773547, PMID:11855930, PMID:12237653, PMID:12442268, PMID:12838198, PMID:12971428, PMID:14630990, PMID:15902556, PMID:18408953, PMID:19852779, PMID:20583174, PMID:20814823, PMID:21103935, PMID:21549624, PMID:22030098, PMID:22459206, PMID:23430857, PMID:23868323, PMID:24033266, PMID:25741868, PMID:25888220, PMID:26024122, PMID:26109258, PMID:26653362, PMID:26676313, PMID:27117294, PMID:27491397, PMID:28492532, PMID:29124685, PMID:29519241, PMID:30311386 NCBI chr 6:27,631,364...27,643,076
Ensembl chr 6:27,631,364...27,643,076
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, PMID:8770876, PMID:9003853, PMID:9266371, PMID:9739053, PMID:10234607, PMID:10352164, PMID:10518281, PMID:11773547, PMID:11855930, PMID:12237653, PMID:12442268, PMID:12809642, PMID:12838198, PMID:12971428, PMID:14630990, PMID:14694500, PMID:15902556, PMID:16040264, PMID:18408953, PMID:19433283, PMID:19852779, PMID:20583174, PMID:20659813, PMID:20814823, PMID:21103935, PMID:21549624, PMID:22030098, PMID:22065858, PMID:22459206, PMID:23430857, PMID:23798014, PMID:23868323, PMID:24033266, PMID:25087612, PMID:25525159, PMID:25741868, PMID:25888220, PMID:26024122, PMID:26109258, PMID:26653362, PMID:26676313, PMID:27117294, PMID:27491397, PMID:28492532, PMID:29124685, PMID:29268767, PMID:29519241, PMID:30311386 NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: LCHAD Deficiency ClinVar NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
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: TFP 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, PMID:8865274, PMID:9003853, PMID:9266371, PMID:10352164, PMID:10518281, PMID:11773547, PMID:11855930, PMID:12442268, PMID:12838198, PMID:12971428, PMID:14630990, PMID:15902556, PMID:18408953, PMID:19852779, PMID:20583174, PMID:20814823, PMID:21103935, PMID:21549624, PMID:22459206, PMID:23430857, PMID:23868323, PMID:24033266, PMID:25741868, PMID:25888220, PMID:26024122, PMID:26109258, PMID:26653362, PMID:26676313, PMID:27117294, PMID:27491397, PMID:28492532, PMID:29124685, PMID:29519241, PMID:30311386 NCBI chr 6:27,631,364...27,643,076
Ensembl chr 6:27,631,364...27,643,076
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: TFP 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, PMID:8770876, PMID:8865274, PMID:9003853, PMID:9266371, PMID:9739053, PMID:10234607, PMID:10352164, PMID:10518281, PMID:11773547, PMID:11855930, PMID:12237653, PMID:12442268, PMID:12809642, PMID:12838198, PMID:12971428, PMID:14630990, PMID:14694500, PMID:15902556, PMID:16040264, PMID:18408953, PMID:19852779, PMID:20583174, PMID:20814823, PMID:21103935, PMID:21549624, PMID:22459206, PMID:23430857, PMID:23798014, PMID:23868323, PMID:24033266, PMID:25087612, PMID:25525159, PMID:25741868, PMID:25888220, PMID:26024122, PMID:26109258, PMID:26653362, PMID:26676313, PMID:27117294, PMID:27491397, PMID:28492532, PMID:29124685, PMID:29268767, PMID:29519241, PMID:30311386 NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
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:12754706, PMID:17143551, PMID:19699128, PMID:19880769, PMID:21549624, PMID:23757202, PMID:24033266, PMID:24664533, PMID:25741868, PMID:26109258, PMID:26197979, PMID:27014569, PMID:28492532, PMID:28515471, PMID:29956646 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 4
            mitochondrial trifunctional protein deficiency 3
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 4
                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.