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: propionic acidemia
Accession: DOID:14701
browse the term
Definition: An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy. (DO)
Synonyms: exact_synonym: Hyperglycinemia With Ketoacidosis And Leukopenia; Ketotic Glycinemia; Ketotic Hyperglycinemia; PCC Deficiency; PCC deficiencies; ketotic II glycinemia; ketotic glycinemias; ketotic hyperglycinemias; propionic acidemias; propionic aciduria; propionic acidurias; propionyl CoA carboxylase deficiency; propionyl-CoA carboxylase deficiencies
primary_id: MESH:D056693
alt_id: OMIM:606054
xref: GARD:467 ; ICD10CM:E71.121 ; NCI:C85030
For additional species annotation, visit the
Alliance of Genome Resources .
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Bivm
basic, immunoglobulin-like variable motif containing
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024
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Ccdc168
coiled-coil domain containing 168
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr 9:46,198,234...46,236,325
Ensembl chr 9:46,198,635...46,235,936
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Clybl
citramalyl-CoA lyase
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695
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Ercc5
ERCC excision repair 5, endonuclease
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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Fgf14
fibroblast growth factor 14
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
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Ggact
gamma-glutamylamine cyclotransferase
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:15464417 PMID:19157943 PMID:22033733 PMID:28492532
NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455
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Itgbl1
integrin subunit beta like 1
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
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Mettl21c
methyltransferase 21C, AARS1 lysine
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112
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Nalcn
sodium leak channel, non-selective
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
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Pcca
propionyl-CoA carboxylase subunit alpha
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:606054 ClinVar Annotator: match by term: Propionic acidemia
OMIM CTD MouseDO ClinVar
PMID:2037281 PMID:6790853 PMID:7915138 PMID:8083196 PMID:9385377 PMID:9536098 PMID:9887338 PMID:10101253 PMID:10329019 PMID:10518292 PMID:10780784 PMID:11592820 PMID:12385775 PMID:12559849 PMID:14960587 PMID:15059621 PMID:15164333 PMID:15235904 PMID:15464417 PMID:16023992 PMID:16199547 PMID:17051315 PMID:17576681 PMID:18414145 PMID:18790721 PMID:19099776 PMID:19157943 PMID:20493181 PMID:20549364 PMID:20725044 PMID:21094621 PMID:22033733 PMID:22156789 PMID:22334403 PMID:22593918 PMID:23053474 PMID:23348723 PMID:23430860 PMID:23648696 PMID:23757202 PMID:24033266 PMID:24059531 PMID:24464666 PMID:24863100 PMID:25047749 PMID:25636094 PMID:25640679 PMID:25741868 PMID:26740382 PMID:27227689 PMID:27489777 PMID:27776753 PMID:27825584 PMID:27900673 PMID:28492532 PMID:28712602 PMID:29033250 PMID:29978829 PMID:30159853 PMID:30186825 PMID:30209273 PMID:30274917 PMID:30705822 PMID:31063319 PMID:31249402 PMID:31319225 PMID:31757659 PMID:31828787 PMID:31893529 PMID:31916709 PMID:32252659 PMID:32778825 PMID:32819290 PMID:33028371 PMID:33473339 PMID:33726816 PMID:33923806 PMID:35095998 PMID:35331292 PMID:36662638 More...
NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
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Pccb
propionyl-CoA carboxylase subunit beta
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Propionic acidemia
OMIM CTD ClinVar
PMID:2154743 PMID:8023851 PMID:8225321 PMID:8295402 PMID:8411997 PMID:8852656 PMID:9452096 PMID:9536098 PMID:9683601 PMID:10447268 PMID:10502773 PMID:10780784 PMID:10820128 PMID:10910839 PMID:11136555 PMID:11749052 PMID:12007220 PMID:12189489 PMID:12409268 PMID:12559849 PMID:12757933 PMID:12888983 PMID:15059621 PMID:15235904 PMID:15464417 PMID:15890657 PMID:15949719 PMID:16199547 PMID:17051315 PMID:17415538 PMID:17576681 PMID:17966092 PMID:18599334 PMID:19099776 PMID:19238581 PMID:19342984 PMID:20549364 PMID:20725044 PMID:21125326 PMID:22033733 PMID:22156789 PMID:22334403 PMID:22593918 PMID:22863191 PMID:23053474 PMID:23430860 PMID:24033266 PMID:24059531 PMID:24516753 PMID:24863100 PMID:24916042 PMID:25047749 PMID:25087612 PMID:25636094 PMID:25741868 PMID:25741895 PMID:25851414 PMID:25865301 PMID:26467025 PMID:26589311 PMID:26830710 PMID:27089410 PMID:27227689 PMID:27243974 PMID:27578510 PMID:27776753 PMID:27825584 PMID:27896094 PMID:27900673 PMID:28492532 PMID:28649556 PMID:28853722 PMID:29033250 PMID:29247206 PMID:29679984 PMID:30013935 PMID:30274917 PMID:30705822 PMID:31249402 PMID:31757659 PMID:31808324 PMID:31916709 PMID:32252659 PMID:32778825 PMID:32860008 PMID:33028371 PMID:33473339 PMID:33587123 PMID:33725819 PMID:33798502 PMID:33923806 PMID:33981581 PMID:34006296 PMID:34670123 PMID:35189944 PMID:35296328 More...
NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
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Poglut2
protein O-glucosyltransferase 2
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532
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Slc10a2
solute carrier family 10 member 2
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
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Tex30
testis expressed 30
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr 9:46,243,416...46,252,273
Ensembl chr 9:46,242,748...46,252,249
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Tm9sf2
transmembrane 9 superfamily member 2
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
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Tmtc4
transmembrane O-mannosyltransferase targeting cadherins 4
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543
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Tpp2
tripeptidyl peptidase 2
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
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Ubac2
UBA domain containing 2
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787
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Uqcrfs1
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:31883641
NCBI chr17:33,977,908...33,982,478
Ensembl chr17:33,977,921...33,982,479
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Zic2
Zic family member 2
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522
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Zic5
Zic family member 5
ISO
ClinVar Annotator: match by term: Propionic acidemia
ClinVar
PMID:28492532
NCBI chr15:99,558,285...99,567,023
Ensembl chr15:99,560,323...99,567,035
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