{
    "disease_id": "DOID:0050710",
    "recommended_name": {
        "id": "DOID:0050710",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050710",
        "name": "3-methylcrotonyl-CoA carboxylase deficiency",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "DOID:0050710",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050710",
            "name": "3-Methylcrotonylglycinuria",
            "description": ""
        },
        {
            "id": "DOID:0050710",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050710",
            "name": "3MCC deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050710",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050710",
            "name": "BMCC deficiency",
            "description": ""
        },
        {
            "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": "DOID:0080579",
            "label": "3-methylcrotonyl-CoA carboxylase 1 deficiency",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080580",
            "label": "3-methylcrotonyl-CoA carboxylase 2 deficiency",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080580",
        "DOID:0050710",
        "DOID:0080579"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050710",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050710",
            "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": "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"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050710"
}