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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:propionic acidemia
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Accession:DOID:14701 term browser browse the term
Definition:An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. (DO)
Synonyms:exact_synonym: Hyperglycinemia With Ketoacidosis And Leukopenia;   Ketotic Glycinemia;   Ketotic Hyperglycinemia;   PCC Deficiencies;   PCC Deficiency;   Propionic Acidemias;   Propionic Aciduria;   Propionic Acidurias;   Propionicacidemia;   Propionicacidemias;   Propionicaciduria;   Propionicacidurias;   ketotic II glycinemia;   ketotic glycinemias;   ketotic hyperglycinemias;   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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propionic acidemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Propionic acidemia
ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency
ClinVar PMID:19157943 PMID:22033733 PMID:28492532 NCBI chr15:109,307,683...109,336,779
Ensembl chr15:109,307,904...109,316,953
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Propionic acidemia
ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency
ClinVar Annotator: match by term: Propionicacidemia
ClinVar Annotator: match by OMIM:606054
OMIM
ClinVar
PMID:2037281 PMID:6790853 PMID:7915138 PMID:8083196 PMID:9385377 PMID:9887338 PMID:10101253 PMID:10329019 PMID:10518292 PMID:10780784 PMID:11592820 PMID:12385775 PMID:12559849 PMID:15059621 PMID:15235904 PMID:15464417 PMID:16023992 PMID:17051315 PMID:18414145 PMID:19099776 PMID:19157943 PMID:20493181 PMID:20549364 PMID:20725044 PMID:21094621 PMID:22033733 PMID:22156789 PMID:22334403 PMID:23053474 PMID:23348723 PMID:23430860 PMID:23757202 PMID:24033266 PMID:24059531 PMID:24464666 PMID:24863100 PMID:25047749 PMID:25741868 PMID:26740382 PMID:27227689 PMID:27489777 PMID:27825584 PMID:27900673 PMID:28492532 PMID:28712602 PMID:29033250 PMID:29978829 PMID:30159853 PMID:30274917 PMID:30705822 PMID:31319225 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Propionic acidemia
ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency
ClinVar Annotator: match by OMIM:606054
OMIM
ClinVar
PMID:2154743 PMID:8023851 PMID:8225321 PMID:8295402 PMID:8411997 PMID:9452096 PMID:9536098 PMID:9683601 PMID:10447268 PMID:10502773 PMID:10780784 PMID:10820128 PMID:11136555 PMID:11749052 PMID:12007220 PMID:12189489 PMID:12409268 PMID:12559849 PMID:12757933 PMID:12888983 PMID:15059621 PMID:15464417 PMID:15890657 PMID:15949719 PMID:17051315 PMID:17415538 PMID:17576681 PMID:17966092 PMID:19099776 PMID:19238581 PMID:20549364 PMID:20725044 PMID:22033733 PMID:22334403 PMID:23053474 PMID:23430860 PMID:24033266 PMID:24059531 PMID:24516753 PMID:24863100 PMID:24916042 PMID:25047749 PMID:25087612 PMID:25636094 PMID:25741868 PMID:25851414 PMID:25865301 PMID:26830710 PMID:27227689 PMID:27243974 PMID:27578510 PMID:27776753 PMID:27900673 PMID:28492532 PMID:28649556 PMID:28853722 PMID:29033250 PMID:29679984 PMID:30013935 PMID:30274917 PMID:32778825 PMID:32860008 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 ISO ClinVar Annotator: match by term: Propionicacidemia ClinVar PMID:31883641 NCBI chr17:35,677,984...35,682,262
Ensembl chr17:35,677,984...35,682,259
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2358
          amino acid metabolic disorder 448
            propionic acidemia 4
              CoQ-Responsive OXPHOS Deficiency 0
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          inherited metabolic disorder 2358
            amino acid metabolic disorder 448
              organic acidemia 56
                propionic acidemia 4
                  CoQ-Responsive OXPHOS Deficiency 0
paths to the root