{
    "disease_id": "DOID:0111370",
    "recommended_name": {
        "id": "DOID:0111370",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111370",
        "name": "apolipoprotein C-III deficiency",
        "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 APOC3 gene on chromosome 11q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111370",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111370",
            "name": "HALP2",
            "description": ""
        },
        {
            "id": "DOID:0111370",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111370",
            "name": "hyperalphalipoproteinemia 2",
            "description": ""
        },
        {
            "id": "MONDO:0013534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013534",
            "name": "apolipoprotein c-III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013534",
            "name": "apolipoprotein c-III deficiency",
            "description": ""
        },
        {
            "id": "MIM:614028",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614028",
            "name": "Hyperalphalipoproteinemia 2",
            "description": "Hyperalphalipoproteinemia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111370"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111370",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111370",
            "categories": []
        },
        {
            "id": "MONDO:0013534",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013534",
            "categories": []
        },
        {
            "id": "MIM:614028",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614028",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P33622-1",
            "uniprot_ac": "P33622",
            "uniprot_id": "APOC3_MOUSE",
            "refseq_ac": "NP_001276685",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein C-III",
                    "type": "recommended"
                },
                {
                    "name": "Apo-CIII",
                    "type": "synonym"
                },
                {
                    "name": "ApoC-III",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein C3",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein C-III isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein C3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apoc3",
                    "type": "recommended"
                },
                {
                    "name": "Apoc3",
                    "type": "synonym"
                },
                {
                    "name": "apo-CIII",
                    "type": "synonym"
                },
                {
                    "name": "apoC-III",
                    "type": "synonym"
                }
            ],
            "record_id": "P33622-1",
            "evidence": [
                {
                    "id": "0111370",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111370"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02656-1",
            "uniprot_ac": "P02656",
            "uniprot_id": "APOC3_HUMAN",
            "refseq_ac": "NP_000031",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein C-III",
                    "type": "recommended"
                },
                {
                    "name": "Apo-CIII",
                    "type": "synonym"
                },
                {
                    "name": "ApoC-III",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein C3",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein C-III precursor",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein C-III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APOC3",
                    "type": "recommended"
                },
                {
                    "name": "APOC3",
                    "type": "synonym"
                },
                {
                    "name": "APOCIII",
                    "type": "synonym"
                },
                {
                    "name": "Apo-C3",
                    "type": "synonym"
                },
                {
                    "name": "ApoC-3",
                    "type": "synonym"
                }
            ],
            "record_id": "P02656-1",
            "evidence": [
                {
                    "id": "614028",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614028"
                },
                {
                    "id": "0111370",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111370"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06759-1",
            "uniprot_ac": "P06759",
            "uniprot_id": "APOC3_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein C-III",
                    "type": "recommended"
                },
                {
                    "name": "Apo-CIII",
                    "type": "synonym"
                },
                {
                    "name": "ApoC-III",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein C3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apoc3",
                    "type": "recommended"
                }
            ],
            "record_id": "P06759-1",
            "evidence": [
                {
                    "id": "0111370",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111370"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111370"
}
