{
    "disease_id": "DOID:0060449",
    "recommended_name": {
        "id": "DOID:0060449",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060449",
        "name": "gelatinous drop-like corneal dystrophy",
        "description": "An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32."
    },
    "synonyms": [
        {
            "id": "DOID:0060449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060449",
            "name": "GDCD",
            "description": ""
        },
        {
            "id": "DOID:0060449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060449",
            "name": "corneal amyloidosis",
            "description": ""
        },
        {
            "id": "DOID:0060449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060449",
            "name": "primary familial amyloidosis of the cornea",
            "description": ""
        },
        {
            "id": "DOID:0060449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060449",
            "name": "subepithelial amyloidosis of the cornea",
            "description": ""
        },
        {
            "id": "MONDO:0008777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "name": "gelatinous drop-like corneal dystrophy",
            "description": "Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment."
        },
        {
            "id": "MONDO:0008777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "name": "GDCD",
            "description": ""
        },
        {
            "id": "MONDO:0008777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "name": "corneal amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0008777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "name": "gelatinous drop-like corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "name": "primary familial amyloidosis of the cornea",
            "description": ""
        },
        {
            "id": "MONDO:0008777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "name": "subepithelial amyloidosis of the cornea",
            "description": ""
        },
        {
            "id": "MONDO:0008777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "name": "CDGDL",
            "description": ""
        },
        {
            "id": "MONDO:0008777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "name": "GDLD",
            "description": ""
        },
        {
            "id": "MONDO:0008777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "name": "amyloid corneal dystrophy, Japanese type",
            "description": ""
        },
        {
            "id": "MONDO:0008777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "name": "amyloidosis corneal",
            "description": ""
        },
        {
            "id": "MONDO:0008777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "name": "corneal dystrophy, gelatinous drop-like",
            "description": ""
        },
        {
            "id": "MONDO:0008777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "name": "corneal dystrophy, lattice type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "name": "lattice corneal dystrophy type 3",
            "description": ""
        },
        {
            "id": "MIM:204870",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/204870",
            "name": "Corneal dystrophy, gelatinous drop-like",
            "description": "Corneal dystrophy, gelatinous drop-like"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060449"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060449",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060449",
            "categories": []
        },
        {
            "id": "MONDO:0008777",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008777",
            "categories": []
        },
        {
            "id": "MIM:204870",
            "database": "MIM",
            "url": "https://www.omim.org/entry/204870",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PBT2-1",
            "uniprot_ac": "A0A8M1PBT2",
            "uniprot_id": "A0A8M1PBT2_DANRE",
            "refseq_ac": "NP_957096",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Clusterin",
                    "type": "recommended"
                },
                {
                    "name": "clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)",
                    "type": "synonym"
                },
                {
                    "name": "clusterin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clu",
                    "type": "recommended"
                },
                {
                    "name": "clu",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73352",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PBT2-1",
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                {
                    "id": "0060449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGV3-1",
            "uniprot_ac": "Q8BGV3",
            "uniprot_id": "TACD2_MOUSE",
            "refseq_ac": "NP_064431",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor-associated calcium signal transducer 2",
                    "type": "recommended"
                },
                {
                    "name": "Cell surface glycoprotein Trop-2",
                    "type": "synonym"
                },
                {
                    "name": "cell surface glycoprotein Trop-2",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte antigen 97",
                    "type": "synonym"
                },
                {
                    "name": "tumor-associated calcium signal transducer 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tunor-associated calcium signal transducer 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tacstd2",
                    "type": "recommended"
                },
                {
                    "name": "EGP-1",
                    "type": "synonym"
                },
                {
                    "name": "GA733-1",
                    "type": "synonym"
                },
                {
                    "name": "Ly97",
                    "type": "synonym"
                },
                {
                    "name": "TROP2",
                    "type": "synonym"
                },
                {
                    "name": "Tacstd2",
                    "type": "synonym"
                },
                {
                    "name": "Trop2",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06890-1",
            "uniprot_ac": "Q06890",
            "uniprot_id": "CLUS_MOUSE",
            "refseq_ac": "NP_038520",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Clusterin",
                    "type": "recommended"
                },
                {
                    "name": "Apo-J",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein J",
                    "type": "synonym"
                },
                {
                    "name": "Clustrin",
                    "type": "synonym"
                },
                {
                    "name": "SGP-2",
                    "type": "synonym"
                },
                {
                    "name": "Sulfated glycoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "clusterin preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "clustrin",
                    "type": "synonym"
                },
                {
                    "name": "complement lysis inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "sulfated glycoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "testosterone repressed prostate message-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clu",
                    "type": "recommended"
                },
                {
                    "name": "ApoJ",
                    "type": "synonym"
                },
                {
                    "name": "Apoj",
                    "type": "synonym"
                },
                {
                    "name": "Cli",
                    "type": "synonym"
                },
                {
                    "name": "Clu",
                    "type": "synonym"
                },
                {
                    "name": "D14Ucla3",
                    "type": "synonym"
                },
                {
                    "name": "Msgp-2",
                    "type": "synonym"
                },
                {
                    "name": "SP-40",
                    "type": "synonym"
                },
                {
                    "name": "Sgp-2",
                    "type": "synonym"
                },
                {
                    "name": "Sgp2",
                    "type": "synonym"
                },
                {
                    "name": "Sugp-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06890-1",
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                {
                    "id": "0060449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09758-1",
            "uniprot_ac": "P09758",
            "uniprot_id": "TACD2_HUMAN",
            "refseq_ac": "NP_002344",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor-associated calcium signal transducer 2",
                    "type": "recommended"
                },
                {
                    "name": "40kD glycoprotein, identified by monoclonal antibody GA733",
                    "type": "synonym"
                },
                {
                    "name": "Cell surface glycoprotein Trop-2",
                    "type": "synonym"
                },
                {
                    "name": "Membrane component chromosome 1 surface marker 1",
                    "type": "synonym"
                },
                {
                    "name": "Pancreatic carcinoma marker protein GA733-1",
                    "type": "synonym"
                },
                {
                    "name": "cell surface glycoprotein TROP2",
                    "type": "synonym"
                },
                {
                    "name": "cell surface glycoprotein Trop-2",
                    "type": "synonym"
                },
                {
                    "name": "epithelial glycoprotein-1",
                    "type": "synonym"
                },
                {
                    "name": "gastrointestinal tumor-associated antigen GA7331",
                    "type": "synonym"
                },
                {
                    "name": "membrane component, chromosome 1, surface marker 1",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic carcinoma marker protein GA733-1",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic carcinoma marker protein GA7331",
                    "type": "synonym"
                },
                {
                    "name": "trophoblast cell surface antigen 2",
                    "type": "synonym"
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                {
                    "name": "tumor-associated calcium signal transducer 2 precursor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "TACSTD2",
                    "type": "recommended"
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                },
                {
                    "name": "EGP1",
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                    "name": "GA733-1",
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                {
                    "name": "GA7331",
                    "type": "synonym"
                },
                {
                    "name": "GP50",
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                },
                {
                    "name": "M1S1",
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                    "name": "TACSTD2",
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                {
                    "id": "0060449",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060449"
                }
            ]
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        {
            "uniprot_canonical_ac": "A0ABK0L8S5-1",
            "uniprot_ac": "A0ABK0L8S5",
            "uniprot_id": "A0ABK0L8S5_RAT",
            "refseq_ac": "NP_001009540",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor-associated calcium signal transducer 2",
                    "type": "recommended"
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                    "name": "parturition-related protein 1",
                    "type": "synonym"
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                {
                    "name": "tumor-associated calcium signal transducer 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tacstd2",
                    "type": "recommended"
                },
                {
                    "name": "Prp1",
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                },
                {
                    "name": "Tacstd2",
                    "type": "synonym"
                },
                {
                    "name": "Trop2",
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            ],
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                    "id": "0060449",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05371-1",
            "uniprot_ac": "P05371",
            "uniprot_id": "CLUS_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Clusterin",
                    "type": "recommended"
                },
                {
                    "name": "DAG",
                    "type": "synonym"
                },
                {
                    "name": "Dimeric acid glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "SGP-2",
                    "type": "synonym"
                },
                {
                    "name": "Sulfated glycoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "TRPM-2",
                    "type": "synonym"
                },
                {
                    "name": "Testosterone repressed prostate message 2",
                    "type": "synonym"
                }
            ],
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                    "name": "Clu",
                    "type": "recommended"
                }
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                {
                    "id": "0060449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10909-1",
            "uniprot_ac": "P10909",
            "uniprot_id": "CLUS_HUMAN",
            "refseq_ac": "NP_001822",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Clusterin",
                    "type": "recommended"
                },
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                    "name": "Aging-associated gene 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "Apo-J",
                    "type": "synonym"
                },
                {
                    "name": "ApoJalpha",
                    "type": "synonym"
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                {
                    "name": "ApoJbeta",
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                {
                    "name": "Apolipoprotein J",
                    "type": "synonym"
                },
                {
                    "name": "CLI",
                    "type": "synonym"
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                {
                    "name": "Complement cytolysis inhibitor a chain",
                    "type": "synonym"
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                {
                    "name": "Complement cytolysis inhibitor b chain",
                    "type": "synonym"
                },
                {
                    "name": "Complement cytolysis inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "Complement-associated protein SP-40,40",
                    "type": "synonym"
                },
                {
                    "name": "Ku70-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NA1/NA2",
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                {
                    "name": "SGP-2",
                    "type": "synonym"
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                    "name": "SP-40,40 alpha-chain",
                    "type": "synonym"
                },
                {
                    "name": "SP-40,40 beta-chain",
                    "type": "synonym"
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                    "name": "Sulfated glycoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "TRPM-2",
                    "type": "synonym"
                },
                {
                    "name": "Testosterone-repressed prostate message 2",
                    "type": "synonym"
                },
                {
                    "name": "aging-associated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein J",
                    "type": "synonym"
                },
                {
                    "name": "clusterin isoform 1 preproprotein",
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                {
                    "name": "complement cytolysis inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "complement lysis inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "complement-associated protein SP-40,40",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ku70-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sulfated glycoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "testosterone-repressed prostate message 2",
                    "type": "synonym"
                }
            ],
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                    "name": "CLU",
                    "type": "recommended"
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                {
                    "name": "AAG4",
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                {
                    "name": "APO-J",
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                {
                    "name": "APOJ",
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                },
                {
                    "name": "CLI",
                    "type": "synonym"
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                    "name": "CLU1",
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                },
                {
                    "name": "CLU2",
                    "type": "synonym"
                },
                {
                    "name": "CLU",
                    "type": "synonym"
                },
                {
                    "name": "KUB1",
                    "type": "synonym"
                },
                {
                    "name": "NA1/NA2",
                    "type": "synonym"
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                {
                    "name": "SGP-2",
                    "type": "synonym"
                },
                {
                    "name": "SGP2",
                    "type": "synonym"
                },
                {
                    "name": "SP-40",
                    "type": "synonym"
                },
                {
                    "name": "TRPM-2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060449"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060449"
}