{
    "disease_id": "DOID:0111364",
    "recommended_name": {
        "id": "DOID:0111364",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111364",
        "name": "Alzheimer's disease 9",
        "description": "An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111364",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111364",
            "name": "AD9",
            "description": ""
        },
        {
            "id": "DOID:0111364",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111364",
            "name": "Alzheimer's disease 9, late onset",
            "description": ""
        },
        {
            "id": "MONDO:0012153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012153",
            "name": "Alzheimer disease 9",
            "description": ""
        },
        {
            "id": "MONDO:0012153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012153",
            "name": "AD9",
            "description": ""
        },
        {
            "id": "MONDO:0012153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012153",
            "name": "Alzheimer disease 9",
            "description": ""
        },
        {
            "id": "MIM:608907",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608907",
            "name": "Alzheimer disease 9",
            "description": "Alzheimer disease 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111364"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111364",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111364",
            "categories": []
        },
        {
            "id": "MONDO:0012153",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012153",
            "categories": []
        },
        {
            "id": "MIM:608907",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608907",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B3V5-1",
            "uniprot_ac": "A0A8M3B3V5",
            "uniprot_id": "A0A8M3B3V5_DANRE",
            "refseq_ac": "XP_009304071",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "P-type phospholipid transporter",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase ABCA1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abca7",
                    "type": "recommended"
                },
                {
                    "name": "abca7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B3V5-1",
            "evidence": [
                {
                    "id": "0111364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91V24-1",
            "uniprot_ac": "Q91V24",
            "uniprot_id": "ABCA7_MOUSE",
            "refseq_ac": "NP_038878",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family A member 7",
                    "type": "recommended"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abca7",
                    "type": "recommended"
                },
                {
                    "name": "ABCX",
                    "type": "synonym"
                },
                {
                    "name": "Abc51",
                    "type": "synonym"
                },
                {
                    "name": "Abca7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91V24-1",
            "evidence": [
                {
                    "id": "0111364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IZY2-1",
            "uniprot_ac": "Q8IZY2",
            "uniprot_id": "ABCA7_HUMAN",
            "refseq_ac": "NP_061985",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase ABCA7",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ABCA-SSN",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 7",
                    "type": "synonym"
                },
                {
                    "name": "Autoantigen SS-N",
                    "type": "synonym"
                },
                {
                    "name": "Macrophage ABC transporter",
                    "type": "synonym"
                },
                {
                    "name": "autoantigen SS-N",
                    "type": "synonym"
                },
                {
                    "name": "macrophage ABC transporter",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase ABCA7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCA7",
                    "type": "recommended"
                },
                {
                    "name": "ABCA-SSN",
                    "type": "synonym"
                },
                {
                    "name": "ABCA7",
                    "type": "synonym"
                },
                {
                    "name": "ABCX",
                    "type": "synonym"
                },
                {
                    "name": "AD9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IZY2-1",
            "evidence": [
                {
                    "id": "608907",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608907"
                },
                {
                    "id": "0111364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TNJ2-1",
            "uniprot_ac": "Q7TNJ2",
            "uniprot_id": "ABCA7_RAT",
            "refseq_ac": "NP_997481",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family A member 7",
                    "type": "recommended"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A, member 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, subfamily A (ABC1), member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abca7",
                    "type": "recommended"
                },
                {
                    "name": "Abca7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TNJ2-1",
            "evidence": [
                {
                    "id": "0111364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JG15-1",
            "uniprot_ac": "X2JG15",
            "uniprot_id": "X2JG15_DROME",
            "refseq_ac": "NP_001285513",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG34120-PE",
                    "type": "synonym"
                },
                {
                    "name": "Lipid droplet defective, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "ldd-PE",
                    "type": "synonym"
                },
                {
                    "name": "lipid droplet defective, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ldd",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT04622",
                    "type": "synonym"
                },
                {
                    "name": "CG1819",
                    "type": "synonym"
                },
                {
                    "name": "CG32516",
                    "type": "synonym"
                },
                {
                    "name": "CG34120",
                    "type": "synonym"
                },
                {
                    "name": "DmCG1819",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34120",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34120",
                    "type": "synonym"
                },
                {
                    "name": "ldd",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JG15-1",
            "evidence": [
                {
                    "id": "0111364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111364"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111364"
}