{
    "disease_id": "DOID:1386",
    "recommended_name": {
        "id": "DOID:1386",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:1386",
        "name": "abetalipoproteinemia",
        "description": "A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS."
    },
    "synonyms": [
        {
            "id": "DOID:1386",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1386",
            "name": "microsomal triglyceride transfer protein deficiency disease",
            "description": ""
        },
        {
            "id": "DOID:1386",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1386",
            "name": "familial hypobetalipoproteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "abetalipoproteinemia",
            "description": "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations."
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "Betalipoprotein deficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "homozygous familial hypobetalipoproteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "microsomal triglyceride transfer protein deficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "microsomal triglyceride transfer Protein deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "abetalipoproteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "ABL",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "congenital betalipoprotein deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "abetalipoproteinemia neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "Bassen Kornzweig syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "Bassen-Kornzweig disease",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "familial hypobetalipoproteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "abetalipoproteinemia; ABL",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "acanthocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "MTP deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "apolipoprotein B deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008692",
            "name": "Bassen-Kornzweig syndrome",
            "description": ""
        },
        {
            "id": "MIM:200100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/200100",
            "name": "Abetalipoproteinemia",
            "description": "Abetalipoproteinemia"
        }
    ]
}