{
    "disease_id": "DOID:0111418",
    "recommended_name": {
        "id": "DOID:0111418",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111418",
        "name": "familial apolipoprotein C-II deficiency",
        "description": "A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111418",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111418",
            "name": "C-II anapolipoproteinemia",
            "description": ""
        },
        {
            "id": "DOID:0111418",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111418",
            "name": "familial APOC2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111418",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111418",
            "name": "familial apoC-II deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111418",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111418",
            "name": "hyperlipoproteinemia, type 1b",
            "description": ""
        },
        {
            "id": "DOID:0111418",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111418",
            "name": "hyperlipoproteinemia, type Ib",
            "description": ""
        },
        {
            "id": "MONDO:0008810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008810",
            "name": "familial apolipoprotein C-II deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008810",
            "name": "familial apoC-II deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008810",
            "name": "familial apolipoprotein C-II deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008810",
            "name": "hyperlipoproteinemia, type IB",
            "description": ""
        },
        {
            "id": "MIM:207750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/207750",
            "name": "Hyperlipoproteinemia 1B",
            "description": "Hyperlipoproteinemia 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111418"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111418",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111418",
            "categories": []
        },
        {
            "id": "MONDO:0008810",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008810",
            "categories": []
        },
        {
            "id": "MIM:207750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/207750",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QEQ1-1",
            "uniprot_ac": "E9QEQ1",
            "uniprot_id": "E9QEQ1_DANRE",
            "refseq_ac": "NP_001313377",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein C-II",
                    "type": "recommended"
                },
                {
                    "name": "Apo-CII",
                    "type": "synonym"
                },
                {
                    "name": "ApoC-II",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein C2",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein C-II precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "apoc2",
                    "type": "recommended"
                },
                {
                    "name": "apoc2",
                    "type": "synonym"
                },
                {
                    "name": "fb71a04",
                    "type": "synonym"
                },
                {
                    "name": "fb98g08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb52e03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb71a04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb98g08",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QEQ1-1",
            "evidence": [
                {
                    "id": "0111418",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111418"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05020-1",
            "uniprot_ac": "Q05020",
            "uniprot_id": "APOC2_MOUSE",
            "refseq_ac": "NP_001264873",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein C-II",
                    "type": "recommended"
                },
                {
                    "name": "Apo-CII",
                    "type": "synonym"
                },
                {
                    "name": "ApoC-II",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein C2",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein C-II precursor",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein C-II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apoc2",
                    "type": "recommended"
                },
                {
                    "name": "Apoc2",
                    "type": "synonym"
                },
                {
                    "name": "apo-CII",
                    "type": "synonym"
                },
                {
                    "name": "apoC-II",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05020-1",
            "evidence": [
                {
                    "id": "0111418",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111418"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02655-1",
            "uniprot_ac": "P02655",
            "uniprot_id": "APOC2_HUMAN",
            "refseq_ac": "NP_000474",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein C-II",
                    "type": "recommended"
                },
                {
                    "name": "Apo-CII",
                    "type": "synonym"
                },
                {
                    "name": "ApoC-II",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein C2",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein C-II precursor",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein C-II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APOC2",
                    "type": "recommended"
                },
                {
                    "name": "APC2",
                    "type": "synonym"
                },
                {
                    "name": "APO-CII",
                    "type": "synonym"
                },
                {
                    "name": "APOC-II",
                    "type": "synonym"
                },
                {
                    "name": "APOC2",
                    "type": "synonym"
                }
            ],
            "record_id": "P02655-1",
            "evidence": [
                {
                    "id": "207750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/207750"
                },
                {
                    "id": "0111418",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111418"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V8D4-1",
            "uniprot_ac": "G3V8D4",
            "uniprot_id": "APOC2_RAT",
            "refseq_ac": "NP_001078821",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein C-II",
                    "type": "recommended"
                },
                {
                    "name": "Apo-CII",
                    "type": "synonym"
                },
                {
                    "name": "ApoC-II",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein C2",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein C-II precursor",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein C-II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apoc2",
                    "type": "recommended"
                },
                {
                    "name": "Apo-CII",
                    "type": "synonym"
                },
                {
                    "name": "ApoC-II",
                    "type": "synonym"
                },
                {
                    "name": "Apoc2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560725",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V8D4-1",
            "evidence": [
                {
                    "id": "0111418",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111418"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86WG5-1",
            "uniprot_ac": "Q86WG5",
            "uniprot_id": "MTMRD_HUMAN",
            "refseq_ac": "NP_112224",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myotubularin-related protein 13",
                    "type": "recommended"
                },
                {
                    "name": "DENN/MADD domain containing 7B",
                    "type": "synonym"
                },
                {
                    "name": "Inactive phosphatidylinositol 3-phosphatase 13",
                    "type": "synonym"
                },
                {
                    "name": "SET-binding factor 2",
                    "type": "synonym"
                },
                {
                    "name": "inactive phosphatidylinositol 3-phosphatase 13",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 13 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SBF2",
                    "type": "recommended"
                },
                {
                    "name": "CMT4B2",
                    "type": "synonym"
                },
                {
                    "name": "DENND7B",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1766",
                    "type": "synonym"
                },
                {
                    "name": "MTMR13",
                    "type": "synonym"
                },
                {
                    "name": "SBF2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86WG5-1",
            "evidence": [
                {
                    "id": "0111418",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111418"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111418"
}