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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 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:201450
ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency		 OMIM
CTD
MouseDO
ClinVar		 PMID:1356169 PMID:1361190 PMID:1447668 PMID:1570195 PMID:1594327 More... NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		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 2:242,775,887...242,786,950
Ensembl chr 2:242,775,994...242,786,903 		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 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487 		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 2:242,844,758...242,850,951
Ensembl chr 2:242,844,762...242,851,050 		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 2:242,911,050...243,208,018
Ensembl chr 2:242,911,325...243,206,404 		JBrowse link
G Snord45a small nucleolar RNA, C/D box 45A ISO ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 2:242,849,608...242,849,688
Ensembl chr 2:242,849,608...242,849,688 		JBrowse link
G Snord45b small nucleolar RNA, C/D box 45B ISO ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 2:242,848,622...242,848,692
Ensembl chr 2:242,848,622...242,848,692 		JBrowse link
G Snord45c small nucleolar RNA, C/D box 45C ISO ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 2:242,850,124...242,850,203
Ensembl chr 2:242,850,124...242,850,203 		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 2:242,129,755...242,645,120
Ensembl chr 2:242,129,763...242,645,133 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        lipid metabolism disorder 1741
          medium chain acyl-CoA dehydrogenase deficiency 9
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          inherited metabolic disorder 6257
            lipid metabolism disorder 1741
              medium chain acyl-CoA dehydrogenase deficiency 9
paths to the root