{
    "disease_id": "DOID:0090114",
    "recommended_name": {
        "id": "DOID:0090114",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090114",
        "name": "Sorsby's fundus dystrophy",
        "description": "A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "DOID:0090114",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090114",
            "name": "SFD",
            "description": ""
        },
        {
            "id": "DOID:0090114",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090114",
            "name": "hemorrhagic macular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0090114",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090114",
            "name": "pseudoinflammatory fundus dystrophy of Sorsby",
            "description": ""
        },
        {
            "id": "MONDO:0007640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007640",
            "name": "Sorsby fundus dystrophy",
            "description": "A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness."
        },
        {
            "id": "MONDO:0007640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007640",
            "name": "SFD",
            "description": ""
        },
        {
            "id": "MONDO:0007640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007640",
            "name": "Sorsby fundus dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007640",
            "name": "Sorsby's pseudoinflammatory macular dystrophy",
            "description": ""
        },
        {
            "id": "MIM:136900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/136900",
            "name": "Sorsby fundus dystrophy",
            "description": "Sorsby fundus dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090114"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090114",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090114",
            "categories": []
        },
        {
            "id": "MONDO:0007640",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007640",
            "categories": []
        },
        {
            "id": "MIM:136900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/136900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P39876-1",
            "uniprot_ac": "P39876",
            "uniprot_id": "TIMP3_MOUSE",
            "refseq_ac": "NP_035725",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metalloproteinase inhibitor 3",
                    "type": "recommended"
                },
                {
                    "name": "TIMP-3",
                    "type": "synonym"
                },
                {
                    "name": "Tissue inhibitor of metalloproteinases 3",
                    "type": "synonym"
                },
                {
                    "name": "metalloproteinase inhibitor 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "metalloproteinase inhibitor 3",
                    "type": "synonym"
                },
                {
                    "name": "tissue inhibitor of metalloproteinases 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timp3",
                    "type": "recommended"
                },
                {
                    "name": "Sun",
                    "type": "synonym"
                },
                {
                    "name": "Timp-3",
                    "type": "synonym"
                },
                {
                    "name": "Timp3",
                    "type": "synonym"
                }
            ],
            "record_id": "P39876-1",
            "evidence": [
                {
                    "id": "0090114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35625-1",
            "uniprot_ac": "P35625",
            "uniprot_id": "TIMP3_HUMAN",
            "refseq_ac": "NP_000353",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metalloproteinase inhibitor 3",
                    "type": "recommended"
                },
                {
                    "name": "MIG-5 protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein MIG-5",
                    "type": "synonym"
                },
                {
                    "name": "TIMP-3",
                    "type": "synonym"
                },
                {
                    "name": "Tissue inhibitor of metalloproteinases 3",
                    "type": "synonym"
                },
                {
                    "name": "metalloproteinase inhibitor 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "metalloproteinase inhibitor 3",
                    "type": "synonym"
                },
                {
                    "name": "protein MIG-5",
                    "type": "synonym"
                },
                {
                    "name": "tissue inhibitor of metalloproteinases 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TIMP3",
                    "type": "recommended"
                },
                {
                    "name": "HSMRK222",
                    "type": "synonym"
                },
                {
                    "name": "K222TA2",
                    "type": "synonym"
                },
                {
                    "name": "K222",
                    "type": "synonym"
                },
                {
                    "name": "SFD",
                    "type": "synonym"
                },
                {
                    "name": "TIMP3",
                    "type": "synonym"
                }
            ],
            "record_id": "P35625-1",
            "evidence": [
                {
                    "id": "136900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/136900"
                },
                {
                    "id": "0090114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48032-1",
            "uniprot_ac": "P48032",
            "uniprot_id": "TIMP3_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metalloproteinase inhibitor 3",
                    "type": "recommended"
                },
                {
                    "name": "TIMP-3",
                    "type": "synonym"
                },
                {
                    "name": "Tissue inhibitor of metalloproteinases 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timp3",
                    "type": "recommended"
                },
                {
                    "name": "Timp-3",
                    "type": "synonym"
                }
            ],
            "record_id": "P48032-1",
            "evidence": [
                {
                    "id": "0090114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH14-1",
            "uniprot_ac": "Q9VH14",
            "uniprot_id": "TIMP_DROME",
            "refseq_ac": "NP_731461",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tissue inhibitor of metalloproteinase",
                    "type": "recommended"
                },
                {
                    "name": "CG6281-PB",
                    "type": "synonym"
                },
                {
                    "name": "Timp-PB",
                    "type": "synonym"
                },
                {
                    "name": "tissue inhibitor of metalloproteases",
                    "type": "synonym"
                },
                {
                    "name": "tissue inhibitor of metalloproteinases",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timp",
                    "type": "recommended"
                },
                {
                    "name": "CG6281",
                    "type": "synonym"
                },
                {
                    "name": "DTIMP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6281",
                    "type": "synonym"
                },
                {
                    "name": "Dtimp",
                    "type": "synonym"
                },
                {
                    "name": "TIMP1",
                    "type": "synonym"
                },
                {
                    "name": "TIMP",
                    "type": "synonym"
                },
                {
                    "name": "Timp",
                    "type": "synonym"
                },
                {
                    "name": "dTIMP",
                    "type": "synonym"
                },
                {
                    "name": "timp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH14-1",
            "evidence": [
                {
                    "id": "0090114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090114"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090114"
}