{
    "disease_id": "DOID:0080958",
    "recommended_name": {
        "id": "DOID:0080958",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080958",
        "name": "primary hypoalphalipoproteinemia 2",
        "description": "A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080958",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080958",
            "name": "Apolipoprotein A-I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0032766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032766",
            "name": "hypoalphalipoproteinemia, primary, 2",
            "description": ""
        },
        {
            "id": "MONDO:0032766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032766",
            "name": "ApoA-I and apoC-III deficiency, combined",
            "description": ""
        },
        {
            "id": "MONDO:0032766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032766",
            "name": "HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2",
            "description": ""
        },
        {
            "id": "MONDO:0032766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032766",
            "name": "hypoalphalipoproteinemia, primary, 2, with or without corneal clouding",
            "description": ""
        },
        {
            "id": "MONDO:0032766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032766",
            "name": "Apolipoprotein A-I Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0032766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032766",
            "name": "High Density Lipoprotein Deficiency",
            "description": ""
        },
        {
            "id": "MIM:618463",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618463",
            "name": "Hypoalphalipoproteinemia, primary, 2",
            "description": "Hypoalphalipoproteinemia, primary, 2"
        }
    ]
}