{
    "disease_id": "DOID:0110023",
    "recommended_name": {
        "id": "DOID:0110023",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110023",
        "name": "age related macular degeneration 11",
        "description": "An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110023",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110023",
            "name": "ARMD11",
            "description": ""
        },
        {
            "id": "MONDO:0012767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012767",
            "name": "age related macular degeneration 11",
            "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene."
        },
        {
            "id": "MONDO:0012767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012767",
            "name": "ARMD11",
            "description": ""
        },
        {
            "id": "MONDO:0012767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012767",
            "name": "CST3 age-related macular degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0012767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012767",
            "name": "age related macular degeneration type 11",
            "description": ""
        },
        {
            "id": "MONDO:0012767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012767",
            "name": "age-related macular degeneration caused by mutation in CST3",
            "description": ""
        },
        {
            "id": "MONDO:0012767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012767",
            "name": "macular Degeneration, age-related, type 11",
            "description": ""
        },
        {
            "id": "MONDO:0012767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012767",
            "name": "macular degeneration, age-related, 11",
            "description": ""
        },
        {
            "id": "MIM:611953",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611953",
            "name": "Macular degeneration, age-related, 11",
            "description": "Macular degeneration, age-related, 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110023"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110023",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110023",
            "categories": []
        },
        {
            "id": "MONDO:0012767",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012767",
            "categories": []
        },
        {
            "id": "MIM:611953",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611953",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "B8A4C9",
            "uniprot_id": "B8A4C9_DANRE",
            "refseq_ac": "NP_001026843",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystatin C (Amyloid angiopathy and cerebral hemorrhage) precursor",
                    "type": "synonym"
                },
                {
                    "name": "cystatin C (amyloid angiopathy and cerebral hemorrhage) precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cst3",
                    "type": "recommended"
                },
                {
                    "name": "cst3",
                    "type": "synonym"
                },
                {
                    "name": "fb51d07",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb24g06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb51d07",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc55f03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136227",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A4C9-1",
            "evidence": [
                {
                    "id": "0110023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21460-1",
            "uniprot_ac": "P21460",
            "uniprot_id": "CYTC_MOUSE",
            "refseq_ac": "NP_034106",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystatin-C",
                    "type": "recommended"
                },
                {
                    "name": "Cystatin-3",
                    "type": "synonym"
                },
                {
                    "name": "cystatin-3",
                    "type": "synonym"
                },
                {
                    "name": "cystatin-C precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cst3",
                    "type": "recommended"
                },
                {
                    "name": "Cst3",
                    "type": "synonym"
                },
                {
                    "name": "CysC",
                    "type": "synonym"
                }
            ],
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                    "id": "0110023",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110023"
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            ]
        },
        {
            "uniprot_canonical_ac": "P01034-1",
            "uniprot_ac": "P01034",
            "uniprot_id": "CYTC_HUMAN",
            "refseq_ac": "NP_000090",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Cystatin-C",
                    "type": "recommended"
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                {
                    "name": "Cystatin-3",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-trace",
                    "type": "synonym"
                },
                {
                    "name": "Neuroendocrine basic polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Post-gamma-globulin",
                    "type": "synonym"
                },
                {
                    "name": "bA218C14.4 (cystatin C)",
                    "type": "synonym"
                },
                {
                    "name": "cystatin 3",
                    "type": "synonym"
                },
                {
                    "name": "cystatin-C precursor",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-trace",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine basic polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "post-gamma-globulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CST3",
                    "type": "recommended"
                },
                {
                    "name": "ADLDWA",
                    "type": "synonym"
                },
                {
                    "name": "ARMD11",
                    "type": "synonym"
                },
                {
                    "name": "CST3",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P01034-1",
            "evidence": [
                {
                    "id": "611953",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611953"
                },
                {
                    "id": "0110023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14841-1",
            "uniprot_ac": "P14841",
            "uniprot_id": "CYTC_RAT",
            "refseq_ac": "NP_036969",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystatin-C",
                    "type": "recommended"
                },
                {
                    "name": "Cystatin C (cysteine proteinase inhibitor)",
                    "type": "synonym"
                },
                {
                    "name": "Cystatin-3",
                    "type": "synonym"
                },
                {
                    "name": "cystatin-3",
                    "type": "synonym"
                },
                {
                    "name": "cystatin-C precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cst3",
                    "type": "recommended"
                },
                {
                    "name": "CYSC",
                    "type": "synonym"
                },
                {
                    "name": "Cst3",
                    "type": "synonym"
                }
            ],
            "record_id": "P14841-1",
            "evidence": [
                {
                    "id": "0110023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05182-1",
            "uniprot_ac": "P05182",
            "uniprot_id": "CP2E1_RAT",
            "refseq_ac": "NP_113731",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 2E1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.13.n7",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.1",
                    "type": "synonym"
                },
                {
                    "name": "4-nitrophenol 2-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "CYPIIE1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450-J",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450RLM6",
                    "type": "synonym"
                },
                {
                    "name": "P450-J",
                    "type": "synonym"
                },
                {
                    "name": "P450RLM6",
                    "type": "synonym"
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                {
                    "name": "cytochrome P450 2E1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 subfamily 2e1 (ethanol-inducible)",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily 2E, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450-J",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450RLM6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp2e1",
                    "type": "recommended"
                },
                {
                    "name": "Cyp2e-1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp2e1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp2e",
                    "type": "synonym"
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            ],
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                    "id": "0110023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110023"
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            ]
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        {
            "uniprot_canonical_ac": "P09603-1",
            "uniprot_ac": "P09603",
            "uniprot_id": "CSF1_HUMAN",
            "refseq_ac": "NP_757349",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Macrophage colony-stimulating factor 1",
                    "type": "recommended"
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                    "name": "CSF-1",
                    "type": "synonym"
                },
                {
                    "name": "CSF1-hERV-LTR71B fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "Lanimostim",
                    "type": "synonym"
                },
                {
                    "name": "M-CSF",
                    "type": "synonym"
                },
                {
                    "name": "MCSF",
                    "type": "synonym"
                },
                {
                    "name": "PG-M-CSF",
                    "type": "synonym"
                },
                {
                    "name": "Proteoglycan macrophage colony-stimulating factor",
                    "type": "synonym"
                },
                {
                    "name": "colony stimulating factor 1 (macrophage)",
                    "type": "synonym"
                },
                {
                    "name": "lanimostim",
                    "type": "synonym"
                },
                {
                    "name": "macrophage colony stimulating factor 1",
                    "type": "synonym"
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                {
                    "name": "macrophage colony-stimulating factor 1 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan macrophage colony-stimulating factor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CSF1",
                    "type": "recommended"
                },
                {
                    "name": "CSF-1",
                    "type": "synonym"
                },
                {
                    "name": "CSF1",
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                },
                {
                    "name": "MCSF",
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                {
                    "name": "PG-M-CSF",
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                    "id": "0110023",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110023"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110023"
}