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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 2 deficiency
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Accession:DOID:0080580 term browser browse the term
Definition:A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13. (DO)
Synonyms:exact_synonym: 3 alpha methylcrotonyl-coa carboxylase 2 deficiency;   3 alpha methylcrotonylglycinuria 2;   3-methylcrotonylglycinuria II;   MCC2 deficiency;   MCC2D;   methylcrotonoyl-CoA carboxylase 2 deficiency;   methylcrotonylglycinuria type 2;   methylcrotonylglycinuria, type II
 primary_id: MESH:C535309
 alt_id: OMIM:210210


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3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency ClinVar PMID:28492532 NCBI chr 2:31,378,407...31,470,140
Ensembl chr 2:31,378,924...31,470,119 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency | ClinVar Annotator: match by term: Methylcrotonylglycinuria type 2		 OMIM
CTD
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 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        muscular disease 2141
          muscle tissue disease 1288
            3-methylcrotonyl-CoA carboxylase deficiency 26
              3-Methylcrotonyl-CoA carboxylase 2 deficiency 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            Metabolic Brain Diseases 1487
              Metabolic Brain Diseases, Inborn 1354
                urea cycle disorder 80
                  3-methylcrotonyl-CoA carboxylase deficiency 26
                    3-Methylcrotonyl-CoA carboxylase 2 deficiency 2
paths to the root