{
    "disease_id": "DOID:0110024",
    "recommended_name": {
        "id": "DOID:0110024",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110024",
        "name": "age related macular degeneration 12",
        "description": "An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22."
    },
    "synonyms": [
        {
            "id": "DOID:0110024",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110024",
            "name": "ARMD12",
            "description": ""
        },
        {
            "id": "MONDO:0013420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013420",
            "name": "age related macular degeneration 12",
            "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene."
        },
        {
            "id": "MONDO:0013420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013420",
            "name": "ARMD12",
            "description": ""
        },
        {
            "id": "MONDO:0013420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013420",
            "name": "CX3CR1 age-related macular degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0013420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013420",
            "name": "age related macular degeneration type 12",
            "description": ""
        },
        {
            "id": "MONDO:0013420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013420",
            "name": "age-related macular degeneration caused by mutation in CX3CR1",
            "description": ""
        },
        {
            "id": "MONDO:0013420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013420",
            "name": "macular Degeneration, age-related, type 12",
            "description": ""
        },
        {
            "id": "MONDO:0013420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013420",
            "name": "macular degeneration, age-related, 12",
            "description": ""
        },
        {
            "id": "MIM:613784",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613784",
            "name": "Macular degeneration, age-related, 12",
            "description": "Macular degeneration, age-related, 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110024"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110024",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110024",
            "categories": []
        },
        {
            "id": "MONDO:0013420",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013420",
            "categories": []
        },
        {
            "id": "MIM:613784",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613784",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "F1QYD4-1",
            "uniprot_ac": "F1QYD4",
            "uniprot_id": "F1QYD4_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-C chemokine receptor type 4-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ccr2",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-207g17.3",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QYD4-1",
            "evidence": [
                {
                    "id": "0110024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0D9-1",
            "uniprot_ac": "Q9Z0D9",
            "uniprot_id": "CX3C1_MOUSE",
            "refseq_ac": "NP_034117",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CX3C chemokine receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "C-X3-C CKR-1",
                    "type": "synonym"
                },
                {
                    "name": "CX3C chemokine receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "CX3CR1",
                    "type": "synonym"
                },
                {
                    "name": "Fractalkine receptor",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X3-C motif) receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X3-C) receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "fractalkine receptor",
                    "type": "synonym"
                },
                {
                    "name": "mCX3CR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cx3cr1",
                    "type": "recommended"
                },
                {
                    "name": "Cx3cr1",
                    "type": "synonym"
                },
                {
                    "name": "mCX3CR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0D9-1",
            "evidence": [
                {
                    "id": "0110024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49238-1",
            "uniprot_ac": "P49238",
            "uniprot_id": "CX3C1_HUMAN",
            "refseq_ac": "NP_001164642",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CX3C chemokine receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Beta chemokine receptor-like 1",
                    "type": "synonym"
                },
                {
                    "name": "C-X3-C CKR-1",
                    "type": "synonym"
                },
                {
                    "name": "CMK-BRL-1",
                    "type": "synonym"
                },
                {
                    "name": "CMK-BRL1",
                    "type": "synonym"
                },
                {
                    "name": "CX3C chemokine receptor 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "CX3C chemokine receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "CX3CR1",
                    "type": "synonym"
                },
                {
                    "name": "Fractalkine receptor",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 13",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 13",
                    "type": "synonym"
                },
                {
                    "name": "V28",
                    "type": "synonym"
                },
                {
                    "name": "beta chemokine receptor-like 1",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-C) receptor-like 1",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X3-C motif) receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X3-C) receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "fractalkine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CX3CR1",
                    "type": "recommended"
                },
                {
                    "name": "CCRL1",
                    "type": "synonym"
                },
                {
                    "name": "CMKBRL1",
                    "type": "synonym"
                },
                {
                    "name": "CMKDR1",
                    "type": "synonym"
                },
                {
                    "name": "CX3CR1",
                    "type": "synonym"
                },
                {
                    "name": "GPR13",
                    "type": "synonym"
                },
                {
                    "name": "GPRV28",
                    "type": "synonym"
                },
                {
                    "name": "V28",
                    "type": "synonym"
                }
            ],
            "record_id": "P49238-1",
            "evidence": [
                {
                    "id": "613784",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613784"
                },
                {
                    "id": "0110024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LKA4-1",
            "uniprot_ac": "A0ABK0LKA4",
            "uniprot_id": "A0ABK0LKA4_RAT",
            "refseq_ac": "NP_001001124",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Olfactory receptor",
                    "type": "recommended"
                },
                {
                    "name": "olfactory receptor 468",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor Olr468",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor gene Olr468",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Or5m13",
                    "type": "recommended"
                },
                {
                    "name": "Olr468",
                    "type": "synonym"
                },
                {
                    "name": "Or5m13",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LKA4-1",
            "evidence": [
                {
                    "id": "0110024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35411-1",
            "uniprot_ac": "P35411",
            "uniprot_id": "CX3C1_RAT",
            "refseq_ac": "NP_598218",
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            "species": [
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CX3C chemokine receptor 1",
                    "type": "recommended"
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                {
                    "name": "C-X3-C CKR-1",
                    "type": "synonym"
                },
                {
                    "name": "CX3C chemokine receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "CX3CR1",
                    "type": "synonym"
                },
                {
                    "name": "Fractalkine receptor",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X3-C motif) receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X3-C) receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "fractalkine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cx3cr1",
                    "type": "recommended"
                },
                {
                    "name": "Cx3cr1",
                    "type": "synonym"
                },
                {
                    "name": "Rbs11",
                    "type": "synonym"
                }
            ],
            "record_id": "P35411-1",
            "evidence": [
                {
                    "id": "0110024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110024"
                }
            ]
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        {
            "uniprot_canonical_ac": "P50279-1",
            "uniprot_ac": "P50279",
            "uniprot_id": "STX2_RAT",
            "refseq_ac": "NP_036880",
            "glycoprotein": "no",
            "species": [
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
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            ],
            "protein_names": [
                {
                    "name": "Syntaxin-2",
                    "type": "recommended"
                },
                {
                    "name": "Epimorphin",
                    "type": "synonym"
                },
                {
                    "name": "epimorphin",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stx2",
                    "type": "recommended"
                },
                {
                    "name": "Epim",
                    "type": "synonym"
                },
                {
                    "name": "Stx2",
                    "type": "synonym"
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            "record_id": "P50279-1",
            "evidence": [
                {
                    "id": "0110024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110024"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110024"
}