{
    "disease_id": "DOID:0090019", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008863", 
            "name": "phytosterolemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008863", 
            "name": "retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008863", 
            "name": "Stsl"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008863", 
            "name": "macrothrombocytopenia/stomatocytosis, Mediterranean"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008863", 
            "name": "plant sterol storage disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090019", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090019", 
            "name": "phytosterolemia"
        }, 
        {
            "url": "https://www.omim.org/entry/210250", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:210250", 
            "name": "Sitosterolemia 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090019", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090019", 
        "name": "sitosterolemia"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/210250", 
            "id": "210250", 
            "database": "MIM"
        }
    ]
}