{
    "disease_id": "DOID:0080217",
    "recommended_name": {
        "id": "DOID:0080217",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080217",
        "name": "lysosomal acid lipase deficiency",
        "description": "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31."
    },
    "synonyms": [
        {
            "id": "DOID:0080217",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080217",
            "name": "LAL deficiency",
            "description": ""
        },
        {
            "id": "DOID:0080217",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080217",
            "name": "LAL-D",
            "description": ""
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "cholesteryl ester storage disease",
            "description": "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia."
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "LAL deficiency, partial",
            "description": ""
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "LIPA deficiency, partial",
            "description": ""
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "cholesterol ester hydrolase deficiency, partial",
            "description": ""
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "cholesterol ester storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "lysosomal acid lipase deficiency, partial",
            "description": ""
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "CESD",
            "description": ""
        },
        {
            "id": "MIM:278000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278000",
            "name": "Cholesteryl ester storage disease",
            "description": "Cholesteryl ester storage disease"
        }
    ],
    "children": [
        {
            "id": "DOID:14497",
            "label": "Wolman disease",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:14502",
            "label": "cholesterol ester storage disease",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080217",
        "DOID:14497",
        "DOID:14502"
    ],
    "unlinked_id_list": []
}