{
    "disease_id": "DOID:0111061",
    "recommended_name": {
        "id": "DOID:0111061",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111061",
        "name": "familial hypobetalipoproteinemia 2",
        "description": "A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31."
    },
    "synonyms": [
        {
            "id": "DOID:0111061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111061",
            "name": "FHBL2",
            "description": ""
        },
        {
            "id": "DOID:0111061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111061",
            "name": "combined familial hypolipidemia",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "familial hypobetalipoproteinemia 2",
            "description": "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene."
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "ANGPTL3 hypobetalipoproteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "FHBL2",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "familial hypobetalipoproteinemia 2",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "familial hypobetalipoproteinemia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "hypobetalipoproteinemia caused by mutation in ANGPTL3",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "hypobetalipoproteinemia, familial, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "hypobetalipoproteinemia, familial, 2",
            "description": ""
        },
        {
            "id": "MIM:605019",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605019",
            "name": "Hypobetalipoproteinemia, familial, 2",
            "description": "Hypobetalipoproteinemia, familial, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111061"
    ],
    "unlinked_id_list": []
}
