{
    "disease_id": "DOID:0060743",
    "recommended_name": {
        "id": "DOID:0060743",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060743",
        "name": "methylmalonic acidemia cblB type",
        "description": "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0060743",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060743",
            "name": "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type",
            "description": ""
        },
        {
            "id": "DOID:0060743",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060743",
            "name": "methylmalonic aciduria cblB type",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "methylmalonic aciduria, cblB type",
            "description": "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial."
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "methylmalonic acidemia cblB type",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "methylmalonic acidemia, cblB type",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "methylmalonic aciduria cblB type",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "methylmalonic aciduria, cblB type",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "methylmalonic aciduria, vitamin B12-responsive, cblB type",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "vitamin B12-responsive methylmalonic acidemia type cblB",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "vitamin B12-responsive methylmalonic aciduria, type cblB",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type",
            "description": ""
        },
        {
            "id": "MIM:251110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251110",
            "name": "Methylmalonic aciduria, cblB type",
            "description": "Methylmalonic aciduria, cblB type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060743"
    ],
    "unlinked_id_list": []
}