{
    "disease_id": "DOID:0090019",
    "recommended_name": {
        "id": "DOID:0090019",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090019",
        "name": "sitosterolemia",
        "description": "An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21."
    },
    "synonyms": [
        {
            "id": "DOID:0090019",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090019",
            "name": "phytosterolemia",
            "description": ""
        },
        {
            "id": "MONDO:0008863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008863",
            "name": "sitosterolemia",
            "description": "(2p21) genes."
        },
        {
            "id": "MONDO:0008863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008863",
            "name": "phytosterolemia",
            "description": ""
        },
        {
            "id": "MONDO:0008863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008863",
            "name": "retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body",
            "description": ""
        },
        {
            "id": "MONDO:0008863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008863",
            "name": "Stsl",
            "description": ""
        },
        {
            "id": "MONDO:0008863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008863",
            "name": "macrothrombocytopenia/stomatocytosis, Mediterranean",
            "description": ""
        },
        {
            "id": "MONDO:0008863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008863",
            "name": "sitosterolemia",
            "description": ""
        },
        {
            "id": "MONDO:0008863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008863",
            "name": "plant sterol storage disease",
            "description": ""
        },
        {
            "id": "MIM:210250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/210250",
            "name": "Sitosterolemia 1",
            "description": "Sitosterolemia 1"
        }
    ]
}