{
    "disease_id": "DOID:0061178",
    "recommended_name": {
        "id": "DOID:0061178",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061178",
        "name": "autosomal recessive congenital nystagmus 8",
        "description": "A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2."
    },
    "synonyms": [
        {
            "id": "MONDO:0009762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009762",
            "name": "nystagmus, congenital, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009762",
            "name": "nystagmus, congenital, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009762",
            "name": "Nystagmus, congenital motor, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:257400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/257400",
            "name": "Nystagmus 8, congenital, autosomal recessive",
            "description": "Nystagmus 8, congenital, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061178"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061178",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061178",
            "categories": []
        },
        {
            "id": "MONDO:0009762",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009762",
            "categories": []
        },
        {
            "id": "MIM:257400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/257400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T813-1",
            "uniprot_ac": "A0AB32T813",
            "uniprot_id": "A0AB32T813_DANRE",
            "refseq_ac": "XP_068069559",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Roundabout homolog 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "roundabout homolog 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "robo1",
                    "type": "recommended"
                },
                {
                    "name": "SAG4A",
                    "type": "synonym"
                },
                {
                    "name": "robo1",
                    "type": "synonym"
                },
                {
                    "name": "t2gtl4a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T813-1",
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                    "id": "0061178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061178"
                }
            ]
        },
        {
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            "uniprot_ac": "O89026",
            "uniprot_id": "ROBO1_MOUSE",
            "refseq_ac": "NP_062286",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Roundabout homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "roundabout homolog 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "roundabout homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Robo1",
                    "type": "recommended"
                },
                {
                    "name": "DUTT1",
                    "type": "synonym"
                },
                {
                    "name": "Dutt1",
                    "type": "synonym"
                },
                {
                    "name": "Gm310",
                    "type": "synonym"
                },
                {
                    "name": "Robo1",
                    "type": "synonym"
                }
            ],
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            ]
        },
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Roundabout homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "Deleted in U twenty twenty",
                    "type": "synonym"
                },
                {
                    "name": "H-Robo-1",
                    "type": "synonym"
                },
                {
                    "name": "deleted in U twenty twenty",
                    "type": "synonym"
                },
                {
                    "name": "roundabout homolog 1 isoform d precursor",
                    "type": "synonym"
                },
                {
                    "name": "roundabout, axon guidance receptor, homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ROBO1",
                    "type": "recommended"
                },
                {
                    "name": "CPHD8",
                    "type": "synonym"
                },
                {
                    "name": "DUTT1",
                    "type": "synonym"
                },
                {
                    "name": "NORS",
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                {
                    "name": "NYS8",
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                },
                {
                    "name": "ROBO1",
                    "type": "synonym"
                },
                {
                    "name": "SAX3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6N7-1",
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                },
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                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55005-1",
            "uniprot_ac": "O55005",
            "uniprot_id": "ROBO1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Roundabout homolog 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Robo1",
                    "type": "recommended"
                },
                {
                    "name": "LOC683548",
                    "type": "synonym"
                }
            ],
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                    "id": "0061178",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W213-1",
            "uniprot_ac": "Q9W213",
            "uniprot_id": "Q9W213_DROME",
            "refseq_ac": "NP_476899",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG13521-PA",
                    "type": "synonym"
                },
                {
                    "name": "Roundabout 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Roundabout 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "robo1-PA",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "roundabout 1",
                    "type": "synonym"
                },
                {
                    "name": "roundabout",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "robo1",
                    "type": "recommended"
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                {
                    "name": "BEST:GM07780",
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                },
                {
                    "name": "CG13521",
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                {
                    "name": "CT32892",
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                {
                    "name": "D-Robo1",
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                },
                {
                    "name": "Dmel\\CG13521",
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                {
                    "name": "Dmel_CG13521",
                    "type": "synonym"
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                    "name": "ROBO",
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                    "type": "synonym"
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                    "name": "dRobo",
                    "type": "synonym"
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                {
                    "name": "robo1S",
                    "type": "synonym"
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                    "name": "robo1",
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                {
                    "name": "robo",
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                },
                {
                    "name": "roundabout",
                    "type": "synonym"
                }
            ],
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                    "id": "0061178",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q9VPZ7-1",
            "uniprot_ac": "Q9VPZ7",
            "uniprot_id": "Q9VPZ7_DROME",
            "refseq_ac": "NP_608592",
            "glycoprotein": "yes",
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                {
                    "name": "Drosophila melanogaster",
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                {
                    "name": "robo3-PA",
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                {
                    "name": "roundabout 3, isoform A",
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                    "name": "roundabout 3",
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                }
            ],
            "gene_names": [
                {
                    "name": "robo3",
                    "type": "recommended"
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                {
                    "name": "CG14345",
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                },
                {
                    "name": "CG5423",
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                },
                {
                    "name": "CT17158",
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                {
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                    "name": "Drosophila melanogaster",
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                    "name": "Roundabout2",
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                    "name": "SGP cluster fusion defects 4",
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                    "name": "CG14347",
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                    "name": "CG5481",
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                    "name": "CG5574",
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                    "name": "CT17326",
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                    "name": "D-robo2",
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                    "name": "Dmel_CG5481",
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                    "name": "Robo 2",
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                    "name": "Robo-2",
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                    "name": "Robo2 (Lea)",
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                    "name": "Robo2",
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                    "name": "Robo",
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                {
                    "name": "anon-EST:Liang-1.75",
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                    "name": "clone 1.75",
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                {
                    "name": "dRobo-2",
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                    "name": "fus4",
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                    "name": "lea",
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                {
                    "name": "robo-2",
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                    "name": "robo2",
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                    "name": "robo",
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                    "id": "0061178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061178"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061178"
}