Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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 CONDITION;   HADHA-related disorder
 primary_id: MESH:C535690
 alt_id: OMIM:609016
 xref: GARD:6867;   NCI:C129929;   ORDO:5


show annotations for term's descendants           Sort by:
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 chr15:112,935,631...112,969,381
Ensembl chr15:112,933,506...112,969,577 		JBrowse link
G ALDOB aldolase, fructose-bisphosphate B ISO ClinVar Annotator: match by term: LCHAD Deficiency ClinVar PMID:25741868 NCBI chr 1:243,127,870...243,141,504
Ensembl chr 1:243,110,585...243,141,418 		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 PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 More... NCBI chr 3:112,799,350...112,817,583
Ensembl chr 3:112,800,719...112,805,740 		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 OMIM
ClinVar		 PMID:2019931 PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 More... NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,733 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ClinVar NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,024...112,753,086 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ClinVar PMID:8798725 PMID:9439591 PMID:9463337 PMID:9784232 PMID:9817922 More... NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,429 		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: HADHA-related condition | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency ClinVar PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 More... NCBI chr 3:112,799,350...112,817,583
Ensembl chr 3:112,800,719...112,805,740 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO ClinVar Annotator: match by term: HADHA-related condition | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency ClinVar PMID:2019931 PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 More... NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,733 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency ClinVar PMID:8651282 PMID:9259266 PMID:9536098 PMID:12754706 PMID:14630990 More... NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,024...112,753,086 		JBrowse link
Mitochondrial Trifunctional Protein Deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO OMIM NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,733 		JBrowse link
Mitochondrial Trifunctional Protein Deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: HADHB-related condition | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy OMIM
ClinVar		 PMID:8163672 PMID:8651282 PMID:9259266 PMID:12754706 PMID:15902556 More... NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,024...112,753,086 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Nutritional and Metabolic Diseases 7079
      disease of metabolism 7079
        lipid metabolism disorder 1546
          Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 6
            mitochondrial trifunctional protein deficiency + 3
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          inherited metabolic disorder 5434
            lipid metabolism disorder 1546
              Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 6
                mitochondrial trifunctional protein deficiency + 3
paths to the root