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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:3-Methylcrotonyl-CoA carboxylase deficiency
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Accession:DOID:0050710 term browser browse the term
Definition:An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. (DO)
Synonyms:exact_synonym: 3-MCC deficiency;   3-Methylcrotonyl-Coenzyme A carboxylase deficiency;   3-Methylcrotonylglycinuria;   3MCC deficiency;   BMCC deficiency;   Deficiency of Methylcrotonoyl-Coa Carboxylase;   MCC deficiency;   Methylcrotonyl-Coa carboxylase deficiency
 xref: GARD:10954;   NCI:C98674;   OMIM:PS210200;   ORDO:6
For additional species annotation, visit the Alliance of Genome Resources.


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3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency ClinVar PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 More... NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency ClinVar PMID:11181649 PMID:16010683 PMID:16835865 PMID:17908719 PMID:20818363 More... NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency OMIM
ClinVar		 PMID:9187484 PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 More... NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency OMIM
ClinVar		 PMID:1293382 PMID:7128647 PMID:8598650 PMID:9536098 PMID:9544913 More... NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      musculoskeletal system disease 7137
        muscular disease 1417
          muscle tissue disease 934
            3-Methylcrotonyl-CoA carboxylase deficiency 2
              3-Methylcrotonyl-CoA carboxylase 1 deficiency 1
              3-Methylcrotonyl-CoA carboxylase 2 deficiency 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            Metabolic Brain Diseases 845
              Metabolic Brain Diseases, Inborn 745
                urea cycle disorder 58
                  3-Methylcrotonyl-CoA carboxylase deficiency 2
                    3-Methylcrotonyl-CoA carboxylase 1 deficiency 1
                    3-Methylcrotonyl-CoA carboxylase 2 deficiency 1
paths to the root