{
    "disease_id": "DOID:0081449",
    "recommended_name": {
        "id": "DOID:0081449",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081449",
        "name": "cone-rod dystrophy 24",
        "description": "A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0957240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957240",
            "name": "cone-rod dystrophy 24",
            "description": ""
        },
        {
            "id": "MIM:620342",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620342",
            "name": "Cone-rod dystrophy 24",
            "description": "Cone-rod dystrophy 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081449"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081449",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081449",
            "categories": []
        },
        {
            "id": "MONDO:0957240",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957240",
            "categories": []
        },
        {
            "id": "MIM:620342",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620342",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QE32-1",
            "uniprot_ac": "F1QE32",
            "uniprot_id": "F1QE32_DANRE",
            "refseq_ac": "XP_695204",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-119 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "protein unc-119 homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "unc119a1",
                    "type": "recommended"
                },
                {
                    "name": "unc119a1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QE32-1",
            "evidence": [
                {
                    "id": "0081449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2R6-1",
            "uniprot_ac": "Q9Z2R6",
            "uniprot_id": "U119A_MOUSE",
            "refseq_ac": "NP_035806",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-119 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "Retinal protein 4",
                    "type": "synonym"
                },
                {
                    "name": "mRG4",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-119 homolog A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-119 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "retinal gene 4",
                    "type": "synonym"
                },
                {
                    "name": "retinal protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Unc119",
                    "type": "recommended"
                },
                {
                    "name": "D11Bhm52",
                    "type": "synonym"
                },
                {
                    "name": "HRG4",
                    "type": "synonym"
                },
                {
                    "name": "MRG4",
                    "type": "synonym"
                },
                {
                    "name": "Rg4",
                    "type": "synonym"
                },
                {
                    "name": "Rtg4",
                    "type": "synonym"
                },
                {
                    "name": "Unc119h",
                    "type": "synonym"
                },
                {
                    "name": "Unc119",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2R6-1",
            "evidence": [
                {
                    "id": "0081449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13432-1",
            "uniprot_ac": "Q13432",
            "uniprot_id": "U119A_HUMAN",
            "refseq_ac": "NP_001317095",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-119 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "POC7 centriolar protein homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Retinal protein 4",
                    "type": "synonym"
                },
                {
                    "name": "hRG4",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-119 homolog A isoform c",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-119 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "retinal protein 4",
                    "type": "synonym"
                },
                {
                    "name": "unc-119 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UNC119",
                    "type": "recommended"
                },
                {
                    "name": "CORD24",
                    "type": "synonym"
                },
                {
                    "name": "HRG4",
                    "type": "synonym"
                },
                {
                    "name": "IMD13",
                    "type": "synonym"
                },
                {
                    "name": "POC7A",
                    "type": "synonym"
                },
                {
                    "name": "POC7",
                    "type": "synonym"
                },
                {
                    "name": "RG4",
                    "type": "synonym"
                },
                {
                    "name": "UNC119",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13432-1",
            "evidence": [
                {
                    "id": "620342",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620342"
                },
                {
                    "id": "0081449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62885-1",
            "uniprot_ac": "Q62885",
            "uniprot_id": "U119A_RAT",
            "refseq_ac": "NP_058884",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-119 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "Retinal protein 4",
                    "type": "synonym"
                },
                {
                    "name": "UNC-119 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-119 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "rRG4",
                    "type": "synonym"
                },
                {
                    "name": "retinal gene 4",
                    "type": "synonym"
                },
                {
                    "name": "retinal protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Unc119",
                    "type": "recommended"
                },
                {
                    "name": "RRG4",
                    "type": "synonym"
                },
                {
                    "name": "Rg4",
                    "type": "synonym"
                },
                {
                    "name": "Unc119",
                    "type": "synonym"
                },
                {
                    "name": "Uncl19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62885-1",
            "evidence": [
                {
                    "id": "0081449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XYQ2-1",
            "uniprot_ac": "Q9XYQ2",
            "uniprot_id": "UN119_DROME",
            "refseq_ac": "NP_001284978",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-119 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG1659-PC",
                    "type": "synonym"
                },
                {
                    "name": "DmUNC-119",
                    "type": "synonym"
                },
                {
                    "name": "unc-119, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "unc-119-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "unc-119",
                    "type": "recommended"
                },
                {
                    "name": "CG1659",
                    "type": "synonym"
                },
                {
                    "name": "DmUNC-119",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1659",
                    "type": "synonym"
                },
                {
                    "name": "Unc-119",
                    "type": "synonym"
                },
                {
                    "name": "Unc119",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey123",
                    "type": "synonym"
                },
                {
                    "name": "dm unc-119",
                    "type": "synonym"
                },
                {
                    "name": "unc-119",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XYQ2-1",
            "evidence": [
                {
                    "id": "0081449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42345-1",
            "uniprot_ac": "P42345",
            "uniprot_id": "MTOR_HUMAN",
            "refseq_ac": "NP_004949",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase mTOR",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein 12-rapamycin associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 12-rapamycin complex-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-rapamycin associated protein",
                    "type": "synonym"
                },
                {
                    "name": "FKBP12-rapamycin complex-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "FKBP12-rapamycin complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Mammalian target of rapamycin",
                    "type": "synonym"
                },
                {
                    "name": "Mechanistic target of rapamycin",
                    "type": "synonym"
                },
                {
                    "name": "Rapamycin and FKBP12 target 1",
                    "type": "synonym"
                },
                {
                    "name": "Rapamycin target protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase mTOR",
                    "type": "synonym"
                },
                {
                    "name": "mTOR",
                    "type": "synonym"
                },
                {
                    "name": "mammalian target of rapamycin",
                    "type": "synonym"
                },
                {
                    "name": "mechanistic target of rapamycin (serine/threonine kinase)",
                    "type": "synonym"
                },
                {
                    "name": "rapamycin and FKBP12 target 1",
                    "type": "synonym"
                },
                {
                    "name": "rapamycin associated protein FRAP2",
                    "type": "synonym"
                },
                {
                    "name": "rapamycin target protein 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase mTOR isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase mTOR",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase mTOR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTOR",
                    "type": "recommended"
                },
                {
                    "name": "FRAP1",
                    "type": "synonym"
                },
                {
                    "name": "FRAP2",
                    "type": "synonym"
                },
                {
                    "name": "FRAP",
                    "type": "synonym"
                },
                {
                    "name": "MTOR",
                    "type": "synonym"
                },
                {
                    "name": "RAFT1",
                    "type": "synonym"
                },
                {
                    "name": "RAPT1",
                    "type": "synonym"
                },
                {
                    "name": "SKS",
                    "type": "synonym"
                }
            ],
            "record_id": "P42345-1",
            "evidence": [
                {
                    "id": "0081449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081449"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081449"
}