{
    "disease_id": "DOID:0111062",
    "recommended_name": {
        "id": "DOID:0111062",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111062",
        "name": "familial hypobetalipoproteinemia 1",
        "description": "A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24."
    },
    "synonyms": [
        {
            "id": "DOID:0111062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111062",
            "name": "FHBL1",
            "description": ""
        },
        {
            "id": "MONDO:0014252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014252",
            "name": "familial hypobetalipoproteinemia 1",
            "description": "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene."
        },
        {
            "id": "MONDO:0014252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014252",
            "name": "hypobetalipoproteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0014252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014252",
            "name": "APOB hypobetalipoproteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0014252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014252",
            "name": "FHBL1",
            "description": ""
        },
        {
            "id": "MONDO:0014252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014252",
            "name": "familial hypobetalipoproteinemia 1",
            "description": ""
        },
        {
            "id": "MONDO:0014252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014252",
            "name": "familial hypobetalipoproteinemia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0014252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014252",
            "name": "hypobetalipoproteinemia caused by mutation in APOB",
            "description": ""
        },
        {
            "id": "MONDO:0014252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014252",
            "name": "hypobetalipoproteinemia, familial, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0014252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014252",
            "name": "FHBL",
            "description": ""
        },
        {
            "id": "MONDO:0014252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014252",
            "name": "hypobetalipoproteinemia, familial, 1",
            "description": ""
        },
        {
            "id": "MIM:615558",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615558",
            "name": "Hypobetalipoproteinemia, familial, 1",
            "description": "Hypobetalipoproteinemia, familial, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111062"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111062",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111062",
            "categories": []
        },
        {
            "id": "MONDO:0014252",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014252",
            "categories": []
        },
        {
            "id": "MIM:615558",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615558",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0111062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111062"
                }
            ]
        },
        {
            "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": "0111062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111062"
                }
            ]
        },
        {
            "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": "0111062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111062"
                }
            ]
        },
        {
            "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": "0111062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111062"
                }
            ]
        },
        {
            "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": "615558",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615558"
                },
                {
                    "id": "0111062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111062"
                }
            ]
        },
        {
            "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": "0111062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111062"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111062"
}