{
    "disease_id": "DOID:0111369",
    "recommended_name": {
        "id": "DOID:0111369",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111369",
        "name": "hyperalphalipoproteinemia 1",
        "description": "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111369",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111369",
            "name": "HALP1",
            "description": ""
        },
        {
            "id": "MONDO:0007744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007744",
            "name": "cholesterol-ester transfer protein deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007744",
            "name": "hyperalphalipoproteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0007744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007744",
            "name": "CEPT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007744",
            "name": "familial hyperalphalipoproteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0007744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007744",
            "name": "high density lipoprotein cholesterol level QTL 10",
            "description": ""
        },
        {
            "id": "MONDO:0007744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007744",
            "name": "hyperalphalipoproteinemia 1",
            "description": ""
        },
        {
            "id": "MONDO:0007744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007744",
            "name": "hyperalphalipoproteinemia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007744",
            "name": "HALP1",
            "description": ""
        },
        {
            "id": "MIM:143470",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/143470",
            "name": "Hyperalphalipoproteinemia 1",
            "description": "Hyperalphalipoproteinemia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111369"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111369",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111369",
            "categories": []
        },
        {
            "id": "MONDO:0007744",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007744",
            "categories": []
        },
        {
            "id": "MIM:143470",
            "database": "MIM",
            "url": "https://www.omim.org/entry/143470",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P11597-1",
            "uniprot_ac": "P11597",
            "uniprot_id": "CETP_HUMAN",
            "refseq_ac": "NP_000069",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cholesteryl ester transfer protein",
                    "type": "recommended"
                },
                {
                    "name": "BPI fold containing family F",
                    "type": "synonym"
                },
                {
                    "name": "Lipid transfer protein I",
                    "type": "synonym"
                },
                {
                    "name": "cholesteryl ester transfer protein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cholesteryl ester transfer protein plasma",
                    "type": "synonym"
                },
                {
                    "name": "lipid transfer protein I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CETP",
                    "type": "recommended"
                },
                {
                    "name": "BPIFF",
                    "type": "synonym"
                },
                {
                    "name": "CETP",
                    "type": "synonym"
                },
                {
                    "name": "HDLCQ10",
                    "type": "synonym"
                }
            ],
            "record_id": "P11597-1",
            "evidence": [
                {
                    "id": "143470",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/143470"
                },
                {
                    "id": "0111369",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111369"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111369"
}