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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:medium chain acyl-CoA dehydrogenase deficiency
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Accession:DOID:0080153 term browser browse the term
Definition:A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. (DO)
Synonyms:exact_synonym: ACADM Deficiency;   ACADMD;   Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of;   Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency;   MCAD Deficiency;   MCADH Deficiency;   Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
 related_synonym: MCAD deficiency, modifier of
 primary_id: MESH:C536038
 alt_id: OMIM:201450
 xref: GARD:540;   NCI:C84538;   ORDO:42


show annotations for term's descendants           Sort by:
medium chain acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADM acyl-CoA dehydrogenase medium chain IAGP
EXP
ISS		 ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
OMIM:201450		 ClinVar
OMIM
CTD
MouseDO		 PMID:1356169 PMID:1361190 PMID:1447668 PMID:1570195 PMID:1594327 More... NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
G ASB17 ankyrin repeat and SOCS box containing 17 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,918,873...75,932,404
Ensembl chr 1:75,918,873...75,932,404 		JBrowse link
G LOC101927342 uncharacterized LOC101927342 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:76,011,324...76,019,356 JBrowse link
G LOC129930768 ATAC-STARR-seq lymphoblastoid silent region 995 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,615,943...75,616,162 JBrowse link
G LOC129930769 ATAC-STARR-seq lymphoblastoid active region 1202 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,640,252...75,640,411 JBrowse link
G LOC129930770 ATAC-STARR-seq lymphoblastoid active region 1203 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,724,095...75,724,184 JBrowse link
G LOC129930771 ATAC-STARR-seq lymphoblastoid silent region 996 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,724,555...75,724,604 JBrowse link
G LOC129930772 ATAC-STARR-seq lymphoblastoid silent region 997 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,724,655...75,724,704 JBrowse link
G LOC129930773 ATAC-STARR-seq lymphoblastoid active region 1204 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,724,835...75,724,924 JBrowse link
G LOC129930774 ATAC-STARR-seq lymphoblastoid active region 1205 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,745,459...75,745,528 JBrowse link
G LOC129930775 ATAC-STARR-seq lymphoblastoid active region 1206 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,764,367...75,764,426 JBrowse link
G LOC129930776 ATAC-STARR-seq lymphoblastoid active region 1207 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,784,838...75,785,057 JBrowse link
G LOC129930777 ATAC-STARR-seq lymphoblastoid active region 1208 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,785,998...75,786,227 JBrowse link
G LOC129930778 ATAC-STARR-seq lymphoblastoid silent region 998 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,786,288...75,786,347 JBrowse link
G LOC129930779 ATAC-STARR-seq lymphoblastoid active region 1209 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,981,704...75,981,763 JBrowse link
G LOC129930780 ATAC-STARR-seq lymphoblastoid silent region 999 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:76,074,547...76,074,746 JBrowse link
G MSH4 mutS homolog 4 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G RABGGTB Rab geranylgeranyltransferase subunit beta IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,786,194...75,795,090
Ensembl chr 1:75,786,197...75,795,086 		JBrowse link
G SLC44A5 solute carrier family 44 member 5 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,202,129...75,724,015
Ensembl chr 1:75,202,129...75,611,114 		JBrowse link
G SNORD45A small nucleolar RNA, C/D box 45A IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,787,889...75,787,972
Ensembl chr 1:75,787,889...75,787,972 		JBrowse link
G SNORD45B small nucleolar RNA, C/D box 45B IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,789,477...75,789,547
Ensembl chr 1:75,789,477...75,789,548 		JBrowse link
G SNORD45C small nucleolar RNA, C/D box 45C IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:75,787,072...75,787,149
Ensembl chr 1:75,787,072...75,787,150 		JBrowse link
G ST6GALNAC3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 IAGP ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 1:76,074,746...76,637,339
Ensembl chr 1:76,074,746...76,634,603 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35757
    Nutritional and Metabolic Diseases 10599
      disease of metabolism 10599
        lipid metabolism disorder 1854
          medium chain acyl-CoA dehydrogenase deficiency 23
Path 2
Term Annotations click to browse term
  disease 35757
    Developmental Disease 28591
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24618
        genetic disease 23804
          inherited metabolic disorder 7932
            lipid metabolism disorder 1854
              medium chain acyl-CoA dehydrogenase deficiency 23
paths to the root