{
    "disease_id": "DOID:0080580",
    "recommended_name": {
        "id": "DOID:0080580",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080580",
        "name": "3-methylcrotonyl-CoA carboxylase 2 deficiency",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0008862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008862",
            "name": "3-methylcrotonyl-CoA carboxylase 2 deficiency",
            "description": "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene."
        },
        {
            "id": "MONDO:0008862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008862",
            "name": "3-Methylcrotonyl-CoA carboxylase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008862",
            "name": "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2",
            "description": ""
        },
        {
            "id": "MONDO:0008862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008862",
            "name": "MCCC2 3-methylcrotonyl-CoA carboxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008862",
            "name": "3 alpha methylcrotonyl-CoA carboxylase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008862",
            "name": "3 alpha methylcrotonylglycinuria 2",
            "description": ""
        },
        {
            "id": "MONDO:0008862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008862",
            "name": "MCC 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008862",
            "name": "MCC2D",
            "description": ""
        },
        {
            "id": "MONDO:0008862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008862",
            "name": "methylcrotonylglycinuria type 2",
            "description": ""
        },
        {
            "id": "MIM:210210",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/210210",
            "name": "3-methylcrotonoyl-CoA carboxylase 2 deficiency",
            "description": "3-methylcrotonoyl-CoA carboxylase 2 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080580"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080580",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080580",
            "categories": []
        },
        {
            "id": "MONDO:0008862",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008862",
            "categories": []
        },
        {
            "id": "MIM:210210",
            "database": "MIM",
            "url": "https://www.omim.org/entry/210210",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3ULD5-1",
            "uniprot_ac": "Q3ULD5",
            "uniprot_id": "MCCB_MOUSE",
            "refseq_ac": "NP_084302",
            "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 beta chain, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "6.4.1.4",
                    "type": "synonym"
                },
                {
                    "name": "MCCase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase beta chain, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mccc2",
                    "type": "recommended"
                },
                {
                    "name": "4930552N12Rik",
                    "type": "synonym"
                },
                {
                    "name": "MCCB",
                    "type": "synonym"
                },
                {
                    "name": "Mccc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3ULD5-1",
            "evidence": [
                {
                    "id": "0080580",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080580"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HCC0-1",
            "uniprot_ac": "Q9HCC0",
            "uniprot_id": "MCCB_HUMAN",
            "refseq_ac": "NP_071415",
            "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 beta chain, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "6.4.1.4",
                    "type": "synonym"
                },
                {
                    "name": "MCCase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "biotin carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase 2 (beta)",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase beta chain, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-Coenzyme A carboxylase 2 (beta)",
                    "type": "synonym"
                },
                {
                    "name": "non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCCC2",
                    "type": "recommended"
                },
                {
                    "name": "MCCB",
                    "type": "synonym"
                },
                {
                    "name": "MCCC2",
                    "type": "synonym"
                },
                {
                    "name": "MCCCbeta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HCC0-1",
            "evidence": [
                {
                    "id": "210210",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/210210"
                },
                {
                    "id": "0080580",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080580"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIT9-1",
            "uniprot_ac": "Q5XIT9",
            "uniprot_id": "MCCB_RAT",
            "refseq_ac": "NP_001012177",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "6.4.1.4",
                    "type": "synonym"
                },
                {
                    "name": "MCCase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase 2 (beta)",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-CoA carboxylase beta chain, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "methylcrotonoyl-Coenzyme A carboxylase 2 (beta)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mccc2",
                    "type": "recommended"
                },
                {
                    "name": "Mccc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIT9-1",
            "evidence": [
                {
                    "id": "0080580",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080580"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9A7-1",
            "uniprot_ac": "Q9V9A7",
            "uniprot_id": "MCCB_DROME",
            "refseq_ac": "NP_652724",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable methylcrotonoyl-CoA carboxylase beta chain, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit",
                    "type": "synonym"
                },
                {
                    "name": "3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "6.4.1.4",
                    "type": "synonym"
                },
                {
                    "name": "CG3267-PA",
                    "type": "synonym"
                },
                {
                    "name": "MCCase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Mccc2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Methylcrotonoyl-CoA carboxylase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mccc2",
                    "type": "recommended"
                },
                {
                    "name": "CG3267",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3267",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0042083",
                    "type": "synonym"
                },
                {
                    "name": "MCCC2_DROME",
                    "type": "synonym"
                },
                {
                    "name": "Mccc2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)04524",
                    "type": "synonym"
                },
                {
                    "name": "l(2)4524",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9A7-1",
            "evidence": [
                {
                    "id": "0080580",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080580"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080580"
}