{
    "disease_id": "DOID:1386", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:1386", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:1386", 
            "name": "familial hypobetalipoproteinemia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:1386", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:1386", 
            "name": "microsomal triglyceride transfer protein deficiency disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "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.", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "abetalipoproteinemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "abetalipoproteinemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "Betalipoprotein deficiency disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "acanthocytosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "congenital betalipoprotein deficiency syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "ABL"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "Bassen-Kornzweig disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "Bassen Kornzweig syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "Bassen-Kornzweig syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "abetalipoproteinemia; ABL"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "abetalipoproteinemia neuropathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "microsomal triglyceride transfer protein deficiency disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "familial hypobetalipoproteinemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "microsomal triglyceride transfer Protein deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "MTP deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "homozygous familial hypobetalipoproteinemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008692", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008692", 
            "name": "apolipoprotein B deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/200100", 
            "description": "Abetalipoproteinemia", 
            "resource": "MIM", 
            "id": "MIM:200100", 
            "name": "Abetalipoproteinemia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:1386", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:1386", 
        "name": "abetalipoproteinemia"
    }
}