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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 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency		 ClinVar PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16835865 PMID:22264772 PMID:22642865 PMID:24033266 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:27601257 PMID:28492532 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617 		JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency		 ClinVar PMID:11181649 PMID:16010683 PMID:16835865 PMID:17908719 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22264772 PMID:22642865 PMID:25087612 PMID:25356967 PMID:25741868 PMID:26764160 PMID:27601257 PMID:28492532 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010 		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 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by OMIM:210200		 OMIM
ClinVar		 PMID:9187484 PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16835865 PMID:17968484 PMID:19339287 PMID:21071250 PMID:22150417 PMID:22264772 PMID:22642865 PMID:24033266 PMID:24078573 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:27577216 PMID:27601257 PMID:28492532 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617 		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 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by OMIM:210210
ClinVar Annotator: match by term: 3-methylcrotonyl CoA carboxylase 2 deficiency		 OMIM
ClinVar		 PMID:1293382 PMID:7128647 PMID:8598650 PMID:9544913 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15877210 PMID:16010683 PMID:16835865 PMID:17908719 PMID:17968484 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22030835 PMID:22150417 PMID:22264772 PMID:22642865 PMID:25087612 PMID:25356967 PMID:25741868 PMID:26566957 PMID:26764160 PMID:27033733 PMID:27601257 PMID:28018443 PMID:28492532 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      musculoskeletal system disease 5736
        muscular disease 1168
          muscle tissue disease 791
            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 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          brain disease 8367
            Metabolic Brain Diseases 579
              Metabolic Brain Diseases, Inborn 509
                urea cycle disorder 44
                  3-Methylcrotonyl-CoA carboxylase deficiency 2
                    3-Methylcrotonyl-CoA carboxylase 1 deficiency 1
                    3-Methylcrotonyl-CoA carboxylase 2 deficiency 1
paths to the root