{
    "disease_id": "DOID:0060869",
    "recommended_name": {
        "id": "DOID:0060869",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060869",
        "name": "late-onset retinal degeneration",
        "description": "A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060869",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060869",
            "name": "LORD",
            "description": ""
        },
        {
            "id": "DOID:0060869",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060869",
            "name": "autosomal dominant late-onset retinal degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0011579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011579",
            "name": "late-onset retinal degeneration",
            "description": "Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease."
        },
        {
            "id": "MONDO:0011579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011579",
            "name": "LORD",
            "description": ""
        },
        {
            "id": "MONDO:0011579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011579",
            "name": "autosomal dominant late-onset retinal degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0011579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011579",
            "name": "late-onset retinal degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0011579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011579",
            "name": "pigmentary retinopathy",
            "description": ""
        },
        {
            "id": "MIM:605670",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605670",
            "name": "Late-onset retinal degeneration",
            "description": "Late-onset retinal degeneration"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060869"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060869",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060869",
            "categories": []
        },
        {
            "id": "MONDO:0011579",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011579",
            "categories": []
        },
        {
            "id": "MIM:605670",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605670",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K479-1",
            "uniprot_ac": "Q8K479",
            "uniprot_id": "C1QT5_MOUSE",
            "refseq_ac": "NP_001035721",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C1q tumor necrosis factor-related protein 5",
                    "type": "recommended"
                },
                {
                    "name": "Membrane frizzled-related protein",
                    "type": "synonym"
                },
                {
                    "name": "adiponectin e",
                    "type": "synonym"
                },
                {
                    "name": "complement C1q tumor necrosis factor-related protein 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement C1q tumor necrosis factor-related protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1qtnf5",
                    "type": "recommended"
                },
                {
                    "name": "Adie",
                    "type": "synonym"
                },
                {
                    "name": "C1qtnf5",
                    "type": "synonym"
                },
                {
                    "name": "Ctrp5",
                    "type": "synonym"
                },
                {
                    "name": "Mfrp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K479-1",
            "evidence": [
                {
                    "id": "0060869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060869"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BXJ0-1",
            "uniprot_ac": "Q9BXJ0",
            "uniprot_id": "C1QT5_HUMAN",
            "refseq_ac": "NP_001265360",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C1q tumor necrosis factor-related protein 5",
                    "type": "recommended"
                },
                {
                    "name": "C1q TNF-alpha-related protein 5",
                    "type": "synonym"
                },
                {
                    "name": "C1q and tumor necrosis factor related protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Membrane frizzled-related protein",
                    "type": "synonym"
                },
                {
                    "name": "complement C1q tumor necrosis factor-related protein 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "myonectin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1QTNF5",
                    "type": "recommended"
                },
                {
                    "name": "C1QTNF5",
                    "type": "synonym"
                },
                {
                    "name": "CTRP5",
                    "type": "synonym"
                },
                {
                    "name": "MFRP",
                    "type": "synonym"
                },
                {
                    "name": "PRO344",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BXJ0-1",
            "evidence": [
                {
                    "id": "605670",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605670"
                },
                {
                    "id": "0060869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060869"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVH0-1",
            "uniprot_ac": "Q5FVH0",
            "uniprot_id": "C1QT5_RAT",
            "refseq_ac": "NP_001012123",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C1q tumor necrosis factor-related protein 5",
                    "type": "recommended"
                },
                {
                    "name": "C1q and tumor necrosis factor related protein 5",
                    "type": "synonym"
                },
                {
                    "name": "adiponectin e",
                    "type": "synonym"
                },
                {
                    "name": "complement C1q tumor necrosis factor-related protein 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement C1q tumor necrosis factor-related protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1qtnf5",
                    "type": "recommended"
                },
                {
                    "name": "Adie",
                    "type": "synonym"
                },
                {
                    "name": "C1qtnf5",
                    "type": "synonym"
                },
                {
                    "name": "Ctrp5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FVH0-1",
            "evidence": [
                {
                    "id": "0060869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060869"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZU82-1",
            "uniprot_ac": "D3ZU82",
            "uniprot_id": "D3ZU82_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": "Membrane frizzled-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mfrp",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZU82-1",
            "evidence": [
                {
                    "id": "0060869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060869"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BY79-1",
            "uniprot_ac": "Q9BY79",
            "uniprot_id": "MFRP_HUMAN",
            "refseq_ac": "NP_113621",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane frizzled-related protein",
                    "type": "recommended"
                },
                {
                    "name": "C1q and TNF related 5",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-type frizzled-related protein",
                    "type": "synonym"
                },
                {
                    "name": "membrane frizzled-related protein",
                    "type": "synonym"
                },
                {
                    "name": "membrane-type frizzled-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MFRP",
                    "type": "recommended"
                },
                {
                    "name": "CTRP5",
                    "type": "synonym"
                },
                {
                    "name": "MCOP5",
                    "type": "synonym"
                },
                {
                    "name": "MFRP",
                    "type": "synonym"
                },
                {
                    "name": "NNO2",
                    "type": "synonym"
                },
                {
                    "name": "RD6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BY79-1",
            "evidence": [
                {
                    "id": "0060869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060869"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060869"
}