{
    "disease_id": "DOID:0111061",
    "recommended_name": {
        "id": "DOID:0111061",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111061",
        "name": "familial hypobetalipoproteinemia 2",
        "description": "A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31."
    },
    "synonyms": [
        {
            "id": "DOID:0111061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111061",
            "name": "FHBL2",
            "description": ""
        },
        {
            "id": "DOID:0111061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111061",
            "name": "combined familial hypolipidemia",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "familial hypobetalipoproteinemia 2",
            "description": "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene."
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "ANGPTL3 hypobetalipoproteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "FHBL2",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "familial hypobetalipoproteinemia 2",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "familial hypobetalipoproteinemia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "hypobetalipoproteinemia caused by mutation in ANGPTL3",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "hypobetalipoproteinemia, familial, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "name": "hypobetalipoproteinemia, familial, 2",
            "description": ""
        },
        {
            "id": "MIM:605019",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605019",
            "name": "Hypobetalipoproteinemia, familial, 2",
            "description": "Hypobetalipoproteinemia, familial, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111061"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111061",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111061",
            "categories": []
        },
        {
            "id": "MONDO:0011505",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011505",
            "categories": []
        },
        {
            "id": "MIM:605019",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605019",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UZN6-1",
            "uniprot_ac": "A0A8N7UZN6",
            "uniprot_id": "A0A8N7UZN6_DANRE",
            "refseq_ac": "NP_571893",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Angiopoietin-related protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Angiopoietin-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-related protein 3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "angptl3",
                    "type": "recommended"
                },
                {
                    "name": "angptl3",
                    "type": "synonym"
                },
                {
                    "name": "fb60e11",
                    "type": "synonym"
                },
                {
                    "name": "fb66h02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb60e11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb66h02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:111943",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UZN6-1",
            "evidence": [
                {
                    "id": "0111061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1RMK1-1",
            "uniprot_ac": "A0A8M1RMK1",
            "uniprot_id": "A0A8M1RMK1_DANRE",
            "refseq_ac": "XP_002665852",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein B-100",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein B-100",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "apobb.2",
                    "type": "recommended"
                },
                {
                    "name": "apobb.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RMK1-1",
            "evidence": [
                {
                    "id": "0111061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8N7T7N7-1",
            "uniprot_ac": "A0A8N7T7N7",
            "uniprot_id": "A0A8N7T7N7_DANRE",
            "refseq_ac": "XP_694827",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein B-100",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein B-100",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "apoba",
                    "type": "recommended"
                },
                {
                    "name": "apoba",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7T7N7-1",
            "evidence": [
                {
                    "id": "0111061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2B7H0-1",
            "uniprot_ac": "A0A8M2B7H0",
            "uniprot_id": "A0A8M2B7H0_DANRE",
            "refseq_ac": "XP_005160686",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein Bb, tandem duplicate 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein Bb, tandem duplicate 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "apobb.1",
                    "type": "recommended"
                },
                {
                    "name": "apobb.1",
                    "type": "synonym"
                },
                {
                    "name": "apobb",
                    "type": "synonym"
                },
                {
                    "name": "apobl",
                    "type": "synonym"
                },
                {
                    "name": "cb235",
                    "type": "synonym"
                },
                {
                    "name": "hm:zeh1207",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb235",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-219i10.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb39c11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc51e12",
                    "type": "synonym"
                },
                {
                    "name": "zeh1207",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B7H0-1",
            "evidence": [
                {
                    "id": "0111061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q414-1",
            "uniprot_ac": "E9Q414",
            "uniprot_id": "APOB_MOUSE",
            "refseq_ac": "NP_033823",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein B-100",
                    "type": "recommended"
                },
                {
                    "name": "Apo B-100",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein B-100 precursor",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein B-100",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apob",
                    "type": "recommended"
                },
                {
                    "name": "Apo B-100",
                    "type": "synonym"
                },
                {
                    "name": "Apob",
                    "type": "synonym"
                },
                {
                    "name": "apob-100",
                    "type": "synonym"
                },
                {
                    "name": "apob-48",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q414-1",
            "evidence": [
                {
                    "id": "0111061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R182-1",
            "uniprot_ac": "Q9R182",
            "uniprot_id": "ANGL3_MOUSE",
            "refseq_ac": "NP_038941",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Angiopoietin-related protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Angiopoietin-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-related protein 3 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-related protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Angptl3",
                    "type": "recommended"
                },
                {
                    "name": "Angptl3",
                    "type": "synonym"
                },
                {
                    "name": "hypl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R182-1",
            "evidence": [
                {
                    "id": "0111061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5C1-1",
            "uniprot_ac": "Q9Y5C1",
            "uniprot_id": "ANGL3_HUMAN",
            "refseq_ac": "NP_055310",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Angiopoietin-related protein 3",
                    "type": "recommended"
                },
                {
                    "name": "ANG-5",
                    "type": "synonym"
                },
                {
                    "name": "Angiopoietin-5",
                    "type": "synonym"
                },
                {
                    "name": "Angiopoietin-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin 5",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-related protein 3 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-related protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANGPTL3",
                    "type": "recommended"
                },
                {
                    "name": "ANG-5",
                    "type": "synonym"
                },
                {
                    "name": "ANGPT5",
                    "type": "synonym"
                },
                {
                    "name": "ANGPTL3",
                    "type": "synonym"
                },
                {
                    "name": "ANL3",
                    "type": "synonym"
                },
                {
                    "name": "FHBL2",
                    "type": "synonym"
                },
                {
                    "name": "PRO179",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5C1-1",
            "evidence": [
                {
                    "id": "605019",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605019"
                },
                {
                    "id": "0111061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FHP0-1",
            "uniprot_ac": "F7FHP0",
            "uniprot_id": "F7FHP0_RAT",
            "refseq_ac": "NP_001386181",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Angiopoietin-related protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Angiopoietin-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-related protein 3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "angiopoietin-related protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Angptl3",
                    "type": "recommended"
                },
                {
                    "name": "Angptl3",
                    "type": "synonym"
                }
            ],
            "record_id": "F7FHP0-1",
            "evidence": [
                {
                    "id": "0111061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TMA5-1",
            "uniprot_ac": "Q7TMA5",
            "uniprot_id": "APOB_RAT",
            "refseq_ac": "NP_062160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein B-100",
                    "type": "recommended"
                },
                {
                    "name": "Apo B-100",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein B (including Ag(x) antigen)",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein B PI",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein B-100 precursor",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein B-100",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein B-48",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apob",
                    "type": "recommended"
                },
                {
                    "name": "Aa1064",
                    "type": "synonym"
                },
                {
                    "name": "Ac1-060",
                    "type": "synonym"
                },
                {
                    "name": "Apo B-100",
                    "type": "synonym"
                },
                {
                    "name": "ApoB-100",
                    "type": "synonym"
                },
                {
                    "name": "ApoB-48",
                    "type": "synonym"
                },
                {
                    "name": "Apob",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TMA5-1",
            "evidence": [
                {
                    "id": "0111061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KTG2-1",
            "uniprot_ac": "Q7KTG2",
            "uniprot_id": "Q7KTG2_DROME",
            "refseq_ac": "NP_995670",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein lipid transfer particle",
                    "type": "synonym"
                },
                {
                    "name": "Apoltp-PC",
                    "type": "synonym"
                },
                {
                    "name": "CG15828-PC",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein lipid transfer particle",
                    "type": "synonym"
                },
                {
                    "name": "lipid transfer particle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apoltp",
                    "type": "recommended"
                },
                {
                    "name": "ApoLTPII",
                    "type": "synonym"
                },
                {
                    "name": "ApoLTPI",
                    "type": "synonym"
                },
                {
                    "name": "ApoLTP",
                    "type": "synonym"
                },
                {
                    "name": "Apoltp",
                    "type": "synonym"
                },
                {
                    "name": "CG15828",
                    "type": "synonym"
                },
                {
                    "name": "CT39214",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15828",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15828",
                    "type": "synonym"
                },
                {
                    "name": "LTP",
                    "type": "synonym"
                },
                {
                    "name": "Ltp",
                    "type": "synonym"
                },
                {
                    "name": "apoLTP",
                    "type": "synonym"
                },
                {
                    "name": "apoltp",
                    "type": "synonym"
                },
                {
                    "name": "ltp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KTG2-1",
            "evidence": [
                {
                    "id": "0111061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04114-1",
            "uniprot_ac": "P04114",
            "uniprot_id": "APOB_HUMAN",
            "refseq_ac": "NP_000375",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein B-100",
                    "type": "recommended"
                },
                {
                    "name": "Apo B-100",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein B (including Ag(x) antigen)",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein B-100 precursor",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein B-100",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein B48",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APOB",
                    "type": "recommended"
                },
                {
                    "name": "APOB",
                    "type": "synonym"
                },
                {
                    "name": "FCHL2",
                    "type": "synonym"
                },
                {
                    "name": "FLDB",
                    "type": "synonym"
                },
                {
                    "name": "LDLCQ4",
                    "type": "synonym"
                },
                {
                    "name": "apoB-100",
                    "type": "synonym"
                },
                {
                    "name": "apoB-48",
                    "type": "synonym"
                }
            ],
            "record_id": "P04114-1",
            "evidence": [
                {
                    "id": "0111061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111061"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111061"
}
