{
    "disease_id": "DOID:14118",
    "recommended_name": {
        "id": "DOID:14118",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14118",
        "name": "familial lipoprotein lipase deficiency",
        "description": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides."
    },
    "synonyms": [
        {
            "id": "DOID:14118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14118",
            "name": "Fredrickson type I hyperlipoproteinemia",
            "description": ""
        },
        {
            "id": "DOID:14118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14118",
            "name": "Fredrickson type I lipaemia",
            "description": ""
        },
        {
            "id": "DOID:14118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14118",
            "name": "familial LPL deficiency",
            "description": ""
        },
        {
            "id": "DOID:14118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14118",
            "name": "familial chylomicronemia syndrome",
            "description": ""
        },
        {
            "id": "DOID:14118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14118",
            "name": "familial hyperlipoproteinemia type I",
            "description": ""
        },
        {
            "id": "DOID:14118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14118",
            "name": "hypercholesterinaemic xanthomatosis",
            "description": ""
        },
        {
            "id": "DOID:14118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14118",
            "name": "hyperchylomicronemia",
            "description": ""
        },
        {
            "id": "DOID:14118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14118",
            "name": "mixed hyperglyceridemia",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "familial lipoprotein lipase deficiency",
            "description": "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides . Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas ( pancreatitis ), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas . Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines."
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "hyperlipoproteinemia, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "lipoprotein lipase deficiency, familial",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "hyperchylomicronemia",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "mixed hyperglyceridemia",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "familial lipoprotein lipase deficiency (disorder) [ambiguous]",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "lipd deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "hyperchylomicronemia, familial",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "hyperlipoproteinemia type I",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "hyperlipoproteinemia, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "familial fat-induced hypertriglyceridemia",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "familial hyperlipoproteinemia type I",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "lipase D deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "chylomicronemia, familial",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "hyperlipemia, idiopathic, Burger-Grutz type",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "endogenous hypertriglyceridaemia",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "hyperlipoproteinemia, type I",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "LPL deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "Burger-Grutz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "lipoprotein lipase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "familial lipoprotein lipase deficiency with type I phenotype",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "type I hyperlipoproteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "Fredrickson type I lipaemia",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "familial LPL deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "familial hyperchylomicronemia",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "hyperlipemia, essential familial",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "familial chylomiconemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "hypercholesterinaemic xanthomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0009387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009387",
            "name": "Fredrickson type I hyperlipoproteinemia",
            "description": ""
        },
        {
            "id": "MIM:238600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/238600",
            "name": "Hyperlipoproteinemia 1",
            "description": "Hyperlipoproteinemia 1"
        }
    ]
}