{
    "disease_id": "DOID:0061029",
    "recommended_name": {
        "id": "DOID:0061029",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061029",
        "name": "Duane retraction syndrome 3",
        "description": "A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12."
    },
    "synonyms": [
        {
            "id": "DOID:0061029",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061029",
            "name": "DURS3",
            "description": ""
        },
        {
            "id": "MONDO:0014880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014880",
            "name": "Duane retraction syndrome 3 with or without deafness",
            "description": "Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion."
        },
        {
            "id": "MONDO:0014880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014880",
            "name": "DURS3",
            "description": ""
        },
        {
            "id": "MONDO:0014880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014880",
            "name": "Duane retraction syndrome 3 with or without deafness",
            "description": ""
        },
        {
            "id": "MONDO:0014880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014880",
            "name": "Duane retraction syndrome caused by mutation in MAFB",
            "description": ""
        },
        {
            "id": "MONDO:0014880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014880",
            "name": "MAFB Duane retraction syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014880",
            "name": "Duane retraction syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0014880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014880",
            "name": "Duane syndrome type 3",
            "description": ""
        },
        {
            "id": "MIM:617041",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617041",
            "name": "Duane retraction syndrome 3 with or without deafness",
            "description": "Duane retraction syndrome 3 with or without deafness"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061029"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061029",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061029",
            "categories": []
        },
        {
            "id": "MONDO:0014880",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014880",
            "categories": []
        },
        {
            "id": "MIM:617041",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617041",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q98UK5-1",
            "uniprot_ac": "Q98UK5",
            "uniprot_id": "MAFB_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor MafB",
                    "type": "recommended"
                },
                {
                    "name": "Maf-B",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor Val",
                    "type": "synonym"
                },
                {
                    "name": "Valentino",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mafba",
                    "type": "recommended"
                },
                {
                    "name": "mafb",
                    "type": "recommended"
                },
                {
                    "name": "kreisler",
                    "type": "synonym"
                },
                {
                    "name": "krml",
                    "type": "synonym"
                },
                {
                    "name": "kr",
                    "type": "synonym"
                },
                {
                    "name": "mafba",
                    "type": "synonym"
                },
                {
                    "name": "mafb",
                    "type": "synonym"
                },
                {
                    "name": "val",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc22d11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj82a09",
                    "type": "synonym"
                }
            ],
            "record_id": "Q98UK5-1",
            "evidence": [
                {
                    "id": "0061029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54841-1",
            "uniprot_ac": "P54841",
            "uniprot_id": "MAFB_MOUSE",
            "refseq_ac": "NP_034788",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor MafB",
                    "type": "recommended"
                },
                {
                    "name": "Kreisler (maf-related) leucine zipper protein",
                    "type": "synonym"
                },
                {
                    "name": "Kreisler",
                    "type": "synonym"
                },
                {
                    "name": "Maf-B",
                    "type": "synonym"
                },
                {
                    "name": "Segmentation protein Kr",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor Maf-1",
                    "type": "synonym"
                },
                {
                    "name": "V-maf musculoaponeurotic fibrosarcoma oncogene homolog B",
                    "type": "synonym"
                },
                {
                    "name": "maf-B",
                    "type": "synonym"
                },
                {
                    "name": "segmentation protein Kr",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Maf-1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor MafB",
                    "type": "synonym"
                },
                {
                    "name": "v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mafb",
                    "type": "recommended"
                },
                {
                    "name": "Kreisler",
                    "type": "synonym"
                },
                {
                    "name": "Krml1",
                    "type": "synonym"
                },
                {
                    "name": "Krml",
                    "type": "synonym"
                },
                {
                    "name": "Maf1",
                    "type": "synonym"
                },
                {
                    "name": "Mafb",
                    "type": "synonym"
                },
                {
                    "name": "kr",
                    "type": "synonym"
                }
            ],
            "record_id": "P54841-1",
            "evidence": [
                {
                    "id": "0061029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5Q3-1",
            "uniprot_ac": "Q9Y5Q3",
            "uniprot_id": "MAFB_HUMAN",
            "refseq_ac": "NP_005452",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor MafB",
                    "type": "recommended"
                },
                {
                    "name": "Kreisler maf-related leucine zipper homolog",
                    "type": "synonym"
                },
                {
                    "name": "MAFB/Kreisler basic region/leucine zipper transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "Maf-B",
                    "type": "synonym"
                },
                {
                    "name": "V-maf musculoaponeurotic fibrosarcoma oncogene homolog B",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor MafB",
                    "type": "synonym"
                },
                {
                    "name": "v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAFB",
                    "type": "recommended"
                },
                {
                    "name": "DURS3",
                    "type": "synonym"
                },
                {
                    "name": "KRML",
                    "type": "synonym"
                },
                {
                    "name": "MAFB",
                    "type": "synonym"
                },
                {
                    "name": "MCTO",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5Q3-1",
            "evidence": [
                {
                    "id": "617041",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617041"
                },
                {
                    "id": "0061029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54842-1",
            "uniprot_ac": "P54842",
            "uniprot_id": "MAFB_RAT",
            "refseq_ac": "NP_062189",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor MafB",
                    "type": "recommended"
                },
                {
                    "name": "Kreisler maf-related leucine zipper homolog (b-maf)",
                    "type": "synonym"
                },
                {
                    "name": "Maf-B",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor Maf-1",
                    "type": "synonym"
                },
                {
                    "name": "V-maf musculoaponeurotic fibrosarcoma oncogene homolog B",
                    "type": "synonym"
                },
                {
                    "name": "maf-B",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Maf-1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor MafB",
                    "type": "synonym"
                },
                {
                    "name": "v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B",
                    "type": "synonym"
                },
                {
                    "name": "v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mafb",
                    "type": "recommended"
                },
                {
                    "name": "Krml",
                    "type": "synonym"
                },
                {
                    "name": "Maf1",
                    "type": "synonym"
                },
                {
                    "name": "Mafb",
                    "type": "synonym"
                },
                {
                    "name": "b-maf",
                    "type": "synonym"
                }
            ],
            "record_id": "P54842-1",
            "evidence": [
                {
                    "id": "0061029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PG80-1",
            "uniprot_ac": "M9PG80",
            "uniprot_id": "M9PG80_DROME",
            "refseq_ac": "NP_001260582",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10034-PC",
                    "type": "synonym"
                },
                {
                    "name": "Traffic jam, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Traffic-Jam",
                    "type": "synonym"
                },
                {
                    "name": "female sterile(2)eo2",
                    "type": "synonym"
                },
                {
                    "name": "tj-PC",
                    "type": "synonym"
                },
                {
                    "name": "traffic jam, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "traffic jam",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tj",
                    "type": "recommended"
                },
                {
                    "name": "CG10034",
                    "type": "synonym"
                },
                {
                    "name": "DM13",
                    "type": "synonym"
                },
                {
                    "name": "Dmaf",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10034",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10034",
                    "type": "synonym"
                },
                {
                    "name": "PL3",
                    "type": "synonym"
                },
                {
                    "name": "TJ",
                    "type": "synonym"
                },
                {
                    "name": "Tj",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)eo-B",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)eo2",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)eoPL3",
                    "type": "synonym"
                },
                {
                    "name": "maf-L",
                    "type": "synonym"
                },
                {
                    "name": "maf1",
                    "type": "synonym"
                },
                {
                    "name": "tj",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PG80-1",
            "evidence": [
                {
                    "id": "0061029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061029"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061029"
}