{
    "disease_id": "DOID:0111422",
    "recommended_name": {
        "id": "DOID:0111422",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111422",
        "name": "familial lipase maturation factor 1 deficiency",
        "description": "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111422",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111422",
            "name": "LPL and HL deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111422",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111422",
            "name": "LPL and HTGL deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111422",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111422",
            "name": "combined lipase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111422",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111422",
            "name": "familial LMF1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111422",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111422",
            "name": "lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009527",
            "name": "lipase deficiency, combined",
            "description": "A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders."
        },
        {
            "id": "MONDO:0009527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009527",
            "name": "combined lipase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009527",
            "name": "familial lipase maturation factor 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009527",
            "name": "lipase deficiency, combined",
            "description": ""
        },
        {
            "id": "MONDO:0009527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009527",
            "name": "lipase deficiency combined",
            "description": ""
        },
        {
            "id": "MIM:246650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/246650",
            "name": "Combined lipase deficiency",
            "description": "Combined lipase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111422"
    ],
    "unlinked_id_list": []
}