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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;   RDO:0001452
 alt_id: OMIM:201450
 xref: NCI:C84538
For additional species annotation, visit the Alliance of Genome Resources.


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 ISO ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency
ClinVar Annotator: match by OMIM:201450
OMIM
ClinVar
PMID:1356169, PMID:1361190, PMID:1447668, PMID:1570195, PMID:1601002, PMID:1671131, PMID:1678810, PMID:1679031, PMID:1684086, PMID:1729890, PMID:1756601, PMID:1902818, PMID:1972503, PMID:2046713, PMID:2251268, PMID:2393404, PMID:2394825, PMID:3786030, PMID:6434827, PMID:7603790, PMID:7633427, PMID:7652482, PMID:7720752, PMID:7730333, PMID:7904584, PMID:7929823, PMID:8102510, PMID:8104486, PMID:8198141, PMID:8535441, PMID:8682492, PMID:8770876, PMID:9158144, PMID:9797589, PMID:9882619, PMID:10767181, PMID:11263545, PMID:11346377, PMID:11349232, PMID:11409868, PMID:11486912, PMID:11673361, PMID:15171998, PMID:15171999, PMID:15479234, PMID:15832312, PMID:15915086, PMID:16121256, PMID:16291504, PMID:16617240, PMID:16737882, PMID:16763904, PMID:17273963, PMID:18075239, PMID:18188679, PMID:18241067, PMID:18450854, PMID:18767270, PMID:18836889, PMID:19064330, PMID:19156839, PMID:19224950, PMID:19649258, PMID:19699128, PMID:19780764, PMID:20036593, PMID:20301597, PMID:20333879, PMID:20434380, PMID:20437613, PMID:20567907, PMID:20580581, PMID:21083904, PMID:21228398, PMID:21239873, PMID:21483992, PMID:21704015, PMID:22166308, PMID:22542437, PMID:22630369, PMID:22683754, PMID:22796001, PMID:22848008, PMID:22975760, PMID:23028790, PMID:23095120, PMID:23430840, PMID:23509891, PMID:23546811, PMID:23574375, PMID:23700290, PMID:23798014, PMID:23810226, PMID:23829193, PMID:23842438, PMID:24033266, PMID:24082139, PMID:24294134, PMID:24623196, PMID:24718418, PMID:24799540, PMID:24966162, PMID:24998633, PMID:25087612, PMID:25255367, PMID:25333063, PMID:25503862, PMID:25741868, PMID:25763512, PMID:25940036, PMID:26215884, PMID:26223887, PMID:26467025, PMID:26947917, PMID:27308838, PMID:27477829, PMID:27751224, PMID:27856190, PMID:27943070, PMID:28492532, PMID:28581210, PMID:29285339, PMID:29519241, PMID:30311386, PMID:30626930, PMID:31012112, PMID:31033143 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Asb17 ankyrin repeat and SOCS box-containing 17 ISO ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 2:260,039,651...260,051,644
Ensembl chr 2:260,039,651...260,051,644
JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 2:260,057,708...260,108,897
Ensembl chr 2:260,057,855...260,108,897
JBrowse link
G Rabggtb Rab geranylgeranyltransferase subunit beta ISO ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 2:260,110,309...260,115,574
Ensembl chr 2:260,110,309...260,115,577
JBrowse link
G Slc44a5 solute carrier family 44, member 5 ISO ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 2:260,185,238...260,535,723
Ensembl chr 2:260,249,566...260,535,721
JBrowse link
G St6galnac3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 ISO ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 2:259,379,653...259,918,813
Ensembl chr 2:259,379,509...259,898,525
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
          medium chain acyl-CoA dehydrogenase deficiency 6
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
              medium chain acyl-CoA dehydrogenase deficiency 6
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.