{
    "disease_id": "DOID:0111420",
    "recommended_name": {
        "id": "DOID:0111420",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111420",
        "name": "familial GPIHBP1 deficiency",
        "description": "A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111420",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111420",
            "name": "familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111420",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111420",
            "name": "hyperlipoproteinemia type 1D",
            "description": ""
        },
        {
            "id": "DOID:0111420",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111420",
            "name": "hyperlipoproteinemia type ID",
            "description": ""
        },
        {
            "id": "MONDO:0014412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014412",
            "name": "hyperlipoproteinemia, type 1D",
            "description": "Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene."
        },
        {
            "id": "MONDO:0014412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014412",
            "name": "GPIHBP1 familial hyperlipidemia",
            "description": ""
        },
        {
            "id": "MONDO:0014412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014412",
            "name": "familial hyperlipidemia caused by mutation in GPIHBP1",
            "description": ""
        },
        {
            "id": "MONDO:0014412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014412",
            "name": "hyperlipoproteinemia, type 1D",
            "description": ""
        },
        {
            "id": "MIM:615947",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615947",
            "name": "Hyperlipoproteinemia 1D",
            "description": "Hyperlipoproteinemia 1D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111420"
    ],
    "unlinked_id_list": []
}
