{
    "disease_id": "DOID:0080579",
    "recommended_name": {
        "id": "DOID:0080579",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080579",
        "name": "3-methylcrotonyl-CoA carboxylase 1 deficiency",
        "description": "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3-methylcrotonyl-CoA carboxylase 1 deficiency",
            "description": "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene."
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3-Methylcrotonyl-Coa carboxylase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3-methylcrotonyl-CoA carboxylase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "MCCC1 3-methylcrotonyl-CoA carboxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3 Alpha methylcrotonylglycinuria 1",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3 Methylcrotonyl-CoA carboxylase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3 Methylcrotonyl-CoA carboxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3 alpha methylcrotonylglycinuria 1",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3 methylcrotonylglycinuria",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3-MCC deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3-Methylcrotonyl-Coa carboxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3-Methylcrotonyl-Coenzyme A carboxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3-methylcrotonylglycinuria",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "3-methylcrotonylglycinuria I",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "Bmcc deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "MCC 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "MCC deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "MCC1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "MCC1D",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "MCCD type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "Methylcrotonyl-Coa carboxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "deficiency of methylcrotonoyl-Coa carboxylase",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "methylcrotonoyl-CoA carboxylase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "name": "methylcrotonylglycinuria type I",
            "description": ""
        },
        {
            "id": "MIM:210200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/210200",
            "name": "3-methylcrotonoyl-CoA carboxylase 1 deficiency",
            "description": "3-methylcrotonoyl-CoA carboxylase 1 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080579"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080579",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080579",
            "categories": []
        },
        {
            "id": "MONDO:0008861",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008861",
            "categories": []
        },
        {
            "id": "MIM:210200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/210200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IH35-1",
            "uniprot_ac": "A0A0R4IH35",
            "uniprot_id": "A0A0R4IH35_DANRE",
            "refseq_ac": "NP_001038380",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase biotin-containing subunit",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "6.4.1.4",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase 1 (alpha)",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mccc1",
                    "type": "recommended"
                },
                {
                    "name": "mccc1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-37m8.6",
                    "type": "synonym"
                },
                {
                    "name": "zgc:154106",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IH35-1",
            "evidence": [
                {
                    "id": "0080579",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080579"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99MR8-1",
            "uniprot_ac": "Q99MR8",
            "uniprot_id": "MCCA_MOUSE",
            "refseq_ac": "NP_076133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase biotin-containing subunit",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "6.4.1.4",
                    "type": "synonym"
                },
                {
                    "name": "MCCase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mccc1",
                    "type": "recommended"
                },
                {
                    "name": "1810045E08Rik",
                    "type": "synonym"
                },
                {
                    "name": "2310058B18Rik",
                    "type": "synonym"
                },
                {
                    "name": "MCCalpha",
                    "type": "synonym"
                },
                {
                    "name": "Mcca",
                    "type": "synonym"
                },
                {
                    "name": "Mccc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99MR8-1",
            "evidence": [
                {
                    "id": "0080579",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080579"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96RQ3-1",
            "uniprot_ac": "Q96RQ3",
            "uniprot_id": "MCCA_HUMAN",
            "refseq_ac": "NP_001280202",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase biotin-containing subunit",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "6.4.1.4",
                    "type": "synonym"
                },
                {
                    "name": "MCCase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase 1 (alpha)",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase alpha",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCCC1",
                    "type": "recommended"
                },
                {
                    "name": "MCC-B",
                    "type": "synonym"
                },
                {
                    "name": "MCCA",
                    "type": "synonym"
                },
                {
                    "name": "MCCC1",
                    "type": "synonym"
                },
                {
                    "name": "MCCCalpha",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96RQ3-1",
            "evidence": [
                {
                    "id": "210200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/210200"
                },
                {
                    "id": "0080579",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080579"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32528-1",
            "uniprot_ac": "P32528",
            "uniprot_id": "DUR1_YEAST",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Urea amidolyase",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "DUR1,2",
                    "type": "recommended"
                },
                {
                    "name": "YBR1448",
                    "type": "synonym"
                }
            ],
            "record_id": "P32528-1",
            "evidence": [
                {
                    "id": "0080579",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080579"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5I0C3-1",
            "uniprot_ac": "Q5I0C3",
            "uniprot_id": "MCCA_RAT",
            "refseq_ac": "NP_001009653",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase biotin-containing subunit",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "6.4.1.4",
                    "type": "synonym"
                },
                {
                    "name": "MCCase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase 1 (alpha)",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mccc1",
                    "type": "recommended"
                },
                {
                    "name": "Mcca",
                    "type": "synonym"
                },
                {
                    "name": "Mccc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I0C3-1",
            "evidence": [
                {
                    "id": "0080579",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080579"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9T5-1",
            "uniprot_ac": "Q9V9T5",
            "uniprot_id": "Q9V9T5_DROME",
            "refseq_ac": "NP_001247391",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-methyl-crotonyl-CoA carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "CG2118-PC",
                    "type": "synonym"
                },
                {
                    "name": "Mccc1-PC",
                    "type": "synonym"
                },
                {
                    "name": "Methylcrotonoyl-CoA carboxylase 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Methylcrotonoyl-CoA carboxylase 1, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mccc1",
                    "type": "recommended"
                },
                {
                    "name": "CG2118",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2118",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2118",
                    "type": "synonym"
                },
                {
                    "name": "MCC",
                    "type": "synonym"
                },
                {
                    "name": "Mccc1",
                    "type": "synonym"
                },
                {
                    "name": "Q9V9T5_DROME",
                    "type": "synonym"
                },
                {
                    "name": "mcc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9T5-1",
            "evidence": [
                {
                    "id": "0080579",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080579"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080579"
}