{
    "disease_id": "DOID:0110003",
    "recommended_name": {
        "id": "DOID:0110003",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110003",
        "name": "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia",
        "description": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110003",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110003",
            "name": "3-methylglutaconic aciduria type 7",
            "description": ""
        },
        {
            "id": "DOID:0110003",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110003",
            "name": "3-methylglutaconic aciduria type VII",
            "description": ""
        },
        {
            "id": "DOID:0110003",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110003",
            "name": "MEGCANN",
            "description": ""
        },
        {
            "id": "DOID:0110003",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110003",
            "name": "MGA7",
            "description": ""
        },
        {
            "id": "DOID:0110003",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110003",
            "name": "MGCA7",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia",
            "description": "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene."
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "3-methylglutaconic aciduria type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "3-methylglutaconic aciduria type VII",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "3-methylglutaconic aciduria caused by mutation in CLPB",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "MGA7",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "3-Methylglutaconic aciduria, type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "MGCA7",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "CLPB 3-methylglutaconic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia; MEGCANN",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "MEGCANN",
            "description": ""
        },
        {
            "id": "MIM:616271",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616271",
            "name": "3-methylglutaconic aciduria 7",
            "description": "3-methylglutaconic aciduria 7"
        }
    ]
}