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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:short chain acyl-CoA dehydrogenase deficiency
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Accession:DOID:0080154 term browser browse the term
Definition:A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids. (DO)
Synonyms:exact_synonym: ACADSD;   Acads Deficiency;   Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of;   Deficiency of Butyryl-Coa Dehydrogenase;   Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency;   Scad Deficiency;   Scadh Deficiency;   short-chain acyl-Coenzyme A dehydrogenase deficiency
 primary_id: MESH:C537596
 alt_id: MIM:201470
 xref: GARD:4822;   NCI:C84539;   ORDO:26792


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short chain acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb9 ATP binding cassette subfamily B member 9 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,499,213...32,531,932
Ensembl chr12:32,499,225...32,531,931 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:201470
ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase		 OMIM
CTD
MouseDO
ClinVar		 PMID:1692038 PMID:2808706 PMID:9499414 PMID:9536098 PMID:9582344 More... NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Anapc5 anaphase-promoting complex subunit 5 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,748,709...33,781,709
Ensembl chr12:33,748,735...33,781,781 		JBrowse link
G Arl6ip4 ARF like GTPase 6 interacting protein 4 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,479,623...32,481,768
Ensembl chr12:32,479,625...32,481,799 		JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
G B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,070,221...33,073,904
Ensembl chr12:33,060,416...33,073,854 		JBrowse link
G Bcl7a BAF chromatin remodeling complex subunit BCL7A ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,211,978...33,243,903
Ensembl chr12:33,223,931...33,243,886 		JBrowse link
G Bicdl1 BICD family like cargo adaptor 1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:40,878,190...41,001,152
Ensembl chr12:40,876,884...40,966,130 		JBrowse link
G C12h12orf43 similar to human chromosome 12 open reading frame 43 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714 		JBrowse link
G Cabp1 calcium binding protein 1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,385,234...41,448,930
Ensembl chr12:41,378,897...41,448,927 		JBrowse link
G Camkk2 calcium/calmodulin-dependent protein kinase kinase 2 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,791,023...33,845,000
Ensembl chr12:33,791,052...33,843,279 		JBrowse link
G Ccdc62 coiled-coil domain containing 62 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,623,170...32,659,912
Ensembl chr12:32,623,170...32,660,017 		JBrowse link
G Cdk2ap1 cyclin-dependent kinase 2 associated protein 1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,249,752...32,258,483
Ensembl chr12:32,249,747...32,258,479 		JBrowse link
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,261,622...33,337,028
Ensembl chr12:33,261,476...33,293,932 		JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860 		JBrowse link
G Clip1 CAP-GLY domain containing linker protein 1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,910,932...33,017,891
Ensembl chr12:32,910,977...33,017,884 		JBrowse link
G Coq5 coenzyme Q5, methyltransferase ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,316,922...41,333,855
Ensembl chr12:41,316,748...41,333,848 		JBrowse link
G Cox6a1 cytochrome c oxidase subunit 6A1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,261,983...41,265,037
Ensembl chr12:41,261,967...41,265,041 		JBrowse link
G Ddx55 DEAD-box helicase 55 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,034,462...32,050,218
Ensembl chr12:32,034,462...32,050,219 		JBrowse link
G Denr density regulated reinitiation and release factor ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,662,512...32,685,283
Ensembl chr12:32,662,516...32,683,843 		JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,055,784...33,070,401
Ensembl chr12:33,055,263...33,070,387 		JBrowse link
G Dynll1 dynein light chain LC8-type 1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,312,365...41,316,157
Ensembl chr12:41,312,367...41,314,741 		JBrowse link
G Echdc1 ethylmalonyl-CoA decarboxylase 1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:25741868 NCBI chr 1:28,476,354...28,507,173
Ensembl chr 1:28,476,200...28,507,319 		JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601 		JBrowse link
G Gatc glutamyl-tRNA amidotransferase subunit C ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,270,096...41,278,067
Ensembl chr12:41,270,087...41,277,995 		JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:40,991,512...41,052,661
Ensembl chr12:40,991,512...41,052,555 		JBrowse link
G Gtf2h3 general transcription factor IIH subunit 3 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,009,010...32,025,484
Ensembl chr12:32,009,014...32,025,497 		JBrowse link
G Hcar1 hydroxycarboxylic acid receptor 1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,710,680...32,713,934
Ensembl chr12:32,711,027...32,712,082 		JBrowse link
G Hcar2 hydroxycarboxylic acid receptor 2 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,726,252...32,728,238
Ensembl chr12:32,726,184...32,728,504 		JBrowse link
G Hip1r huntingtin interacting protein 1 related ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,590,164...32,618,841
Ensembl chr12:32,590,165...32,618,734 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:12736383 PMID:18523805 PMID:28492532 NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Il31 interleukin 31 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,095,108...33,105,026
Ensembl chr12:33,092,097...33,105,037 		JBrowse link
G Kdm2b lysine demethylase 2B ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355 		JBrowse link
G Kmt5a lysine methyltransferase 5A ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,139,353...32,167,777
Ensembl chr12:32,139,178...32,162,711 		JBrowse link
G Kntc1 kinetochore associated 1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,769,020...32,839,617
Ensembl chr12:32,769,020...32,839,561 		JBrowse link
G Lrrc43 leucine rich repeat containing 43 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,074,149...33,092,257
Ensembl chr12:33,074,150...33,095,082 		JBrowse link
G Mlec malectin ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,458,234...41,468,710
Ensembl chr12:41,458,231...41,468,708 		JBrowse link
G Mlxip MLX interacting protein ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,128,524...33,192,300
Ensembl chr12:33,128,520...33,192,374 		JBrowse link
G Morn3 MORN repeat containing 3 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,505,654...33,529,918
Ensembl chr12:33,514,230...33,529,931 		JBrowse link
G Mphosph9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,275,449...32,346,097
Ensembl chr12:32,275,558...32,342,392 		JBrowse link
G Msi1 musashi RNA-binding protein 1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,158,301...41,251,134
Ensembl chr12:41,158,599...41,191,076 		JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258 		JBrowse link
G Oasl 2'-5'-oligoadenylate synthetase-like ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,682,900...41,695,641
Ensembl chr12:41,682,900...41,695,641 		JBrowse link
G Ogfod2 2-oxoglutarate and iron-dependent oxygenase domain containing 2 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,482,386...32,485,688
Ensembl chr12:32,482,377...32,485,673 		JBrowse link
G Orai1 ORAI calcium release-activated calcium modulator 1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,533,151...33,548,361
Ensembl chr12:33,534,344...33,548,405 		JBrowse link
G P2rx4 purinergic receptor P2X 4 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,844,609...33,862,265
Ensembl chr12:33,844,396...33,862,253 		JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619 		JBrowse link
G Pitpnm2 phosphatidylinositol transfer protein, membrane-associated 2 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,347,455...32,479,103
Ensembl chr12:32,380,805...32,479,102 		JBrowse link
G Pla2g1b phospholipase A2 group IB ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,142,193...41,151,967
Ensembl chr12:41,142,200...41,153,226 		JBrowse link
G Pop5 POP5 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,376,755...41,384,882
Ensembl chr12:41,376,755...41,381,336 		JBrowse link
G Psmd9 proteasome 26S subunit, non-ATPase 9 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,337,182...33,357,468 JBrowse link
G Pxn paxillin ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,060,791...41,107,952
Ensembl chr12:41,060,791...41,107,931 		JBrowse link
G Rab35 RAB35, member RAS oncogene family ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:40,967,102...40,981,183
Ensembl chr12:40,967,103...40,991,195 		JBrowse link
G Rhof ras homolog family member F, filopodia associated ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,422,375...33,446,689
Ensembl chr12:33,431,280...33,446,703 		JBrowse link
G Rilpl1 Rab interacting lysosomal protein-like 1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,071,870...32,109,687
Ensembl chr12:32,071,693...32,109,938 		JBrowse link
G Rilpl2 Rab interacting lysosomal protein-like 2 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,125,908...32,137,426
Ensembl chr12:32,125,886...32,137,418 		JBrowse link
G Rnf10 ring finger protein 10 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,341,708...41,375,505
Ensembl chr12:41,341,717...41,375,504 		JBrowse link
G Rnf34 ring finger protein 34 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,703,655...33,724,606
Ensembl chr12:33,703,673...33,724,586 		JBrowse link
G Rplp0 ribosomal protein lateral stalk subunit P0 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,054,363...41,057,632
Ensembl chr12:41,054,179...41,057,632 		JBrowse link
G Rsrc2 arginine and serine rich coiled-coil 2 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,839,840...32,859,820
Ensembl chr12:32,839,809...32,859,799 		JBrowse link
G Sbno1 strawberry notch homolog 1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,175,176...32,234,200
Ensembl chr12:32,185,485...32,230,158 		JBrowse link
G Setd1b SET domain containing 1B, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,395,963...33,421,671
Ensembl chr12:33,396,120...33,426,934 		JBrowse link
G Sirt4 sirtuin 4 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439 		JBrowse link
G Snrnp35 small nuclear ribonucleoprotein U11/U12 subunit 35 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,112,032...32,119,829
Ensembl chr12:32,110,993...32,122,660 		JBrowse link
G Sppl3 signal peptide peptidase like 3 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:12736383 PMID:18523805 PMID:28492532 NCBI chr12:41,515,635...41,600,079
Ensembl chr12:41,515,640...41,600,126 		JBrowse link
G Srsf9 serine and arginine rich splicing factor 9 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,278,225...41,284,502
Ensembl chr12:41,275,687...41,284,499 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
G Tmed2 transmembrane p24 trafficking protein 2 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,052,542...32,061,628
Ensembl chr12:32,052,543...32,071,903 		JBrowse link
G Tmem120b transmembrane protein 120B ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,447,441...33,487,257
Ensembl chr12:33,446,660...33,487,200 		JBrowse link
G Triap1 TP53 regulated inhibitor of apoptosis 1 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,267,534...41,270,053
Ensembl chr12:41,267,549...41,270,042 		JBrowse link
G Unc119b unc-119 lipid binding chaperone B ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:41,478,808...41,491,432
Ensembl chr12:41,478,808...41,491,432 		JBrowse link
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393 		JBrowse link
G Vps37b VPS37B subunit of ESCRT-I ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,560,047...32,589,015
Ensembl chr12:32,560,047...32,589,014 		JBrowse link
G Zcchc8 zinc finger CCHC-type containing 8 ISO ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr12:32,869,170...32,892,707
Ensembl chr12:32,869,310...32,891,325 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        lipid metabolism disorder 1900
          short chain acyl-CoA dehydrogenase deficiency 75
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          inherited metabolic disorder 6605
            lipid metabolism disorder 1900
              short chain acyl-CoA dehydrogenase deficiency 75
paths to the root