{
    "disease_id": "DOID:0061028",
    "recommended_name": {
        "id": "DOID:0061028",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061028",
        "name": "Duane retraction syndrome 2",
        "description": "A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0061028",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061028",
            "name": "DURS2",
            "description": ""
        },
        {
            "id": "MONDO:0011444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011444",
            "name": "Duane retraction syndrome 2",
            "description": "Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene."
        },
        {
            "id": "MONDO:0011444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011444",
            "name": "CHN1 Duane retraction syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011444",
            "name": "Duane retraction syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011444",
            "name": "Duane retraction syndrome caused by mutation in CHN1",
            "description": ""
        },
        {
            "id": "MONDO:0011444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011444",
            "name": "Duane retraction syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011444",
            "name": "DURS2",
            "description": ""
        },
        {
            "id": "MONDO:0011444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011444",
            "name": "Duane syndrome type 2",
            "description": ""
        },
        {
            "id": "MIM:604356",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604356",
            "name": "Duane retraction syndrome 2",
            "description": "Duane retraction syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061028"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061028",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061028",
            "categories": []
        },
        {
            "id": "MONDO:0011444",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011444",
            "categories": []
        },
        {
            "id": "MIM:604356",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604356",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91V57-1",
            "uniprot_ac": "Q91V57",
            "uniprot_id": "CHIN_MOUSE",
            "refseq_ac": "NP_001106717",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-chimaerin",
                    "type": "recommended"
                },
                {
                    "name": "A-chimaerin",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-chimerin",
                    "type": "synonym"
                },
                {
                    "name": "N-chimaerin isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "N-chimaerin",
                    "type": "synonym"
                },
                {
                    "name": "N-chimerin",
                    "type": "synonym"
                },
                {
                    "name": "NC",
                    "type": "synonym"
                },
                {
                    "name": "Rho GTPase-activating protein 2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-chimerin",
                    "type": "synonym"
                },
                {
                    "name": "alpha1 chimaerin",
                    "type": "synonym"
                },
                {
                    "name": "alpha2 chimaerin",
                    "type": "synonym"
                },
                {
                    "name": "alpha3-chimerin",
                    "type": "synonym"
                },
                {
                    "name": "chimerin (chimaerin) 1",
                    "type": "synonym"
                },
                {
                    "name": "rho GTPase-activating protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chn1",
                    "type": "recommended"
                },
                {
                    "name": "0610007I19Rik",
                    "type": "synonym"
                },
                {
                    "name": "0710001E19Rik",
                    "type": "synonym"
                },
                {
                    "name": "1700112L09Rik",
                    "type": "synonym"
                },
                {
                    "name": "2900046J01Rik",
                    "type": "synonym"
                },
                {
                    "name": "ARHGAP2",
                    "type": "synonym"
                },
                {
                    "name": "Arhgap2",
                    "type": "synonym"
                },
                {
                    "name": "Chn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91V57-1",
            "evidence": [
                {
                    "id": "0061028",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061028"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15882-1",
            "uniprot_ac": "P15882",
            "uniprot_id": "CHIN_HUMAN",
            "refseq_ac": "NP_001020372",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-chimaerin",
                    "type": "recommended"
                },
                {
                    "name": "A-chimaerin",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-chimerin",
                    "type": "synonym"
                },
                {
                    "name": "N-chimaerin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "N-chimaerin",
                    "type": "synonym"
                },
                {
                    "name": "N-chimerin",
                    "type": "synonym"
                },
                {
                    "name": "NC",
                    "type": "synonym"
                },
                {
                    "name": "Rho GTPase-activating protein 2",
                    "type": "synonym"
                },
                {
                    "name": "a2-chimaerin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-chimerin",
                    "type": "synonym"
                },
                {
                    "name": "chimaerin 1",
                    "type": "synonym"
                },
                {
                    "name": "chimerin (chimaerin) 1",
                    "type": "synonym"
                },
                {
                    "name": "n-chimerin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHN1",
                    "type": "recommended"
                },
                {
                    "name": "ARHGAP2",
                    "type": "synonym"
                },
                {
                    "name": "CHN1",
                    "type": "synonym"
                },
                {
                    "name": "CHN",
                    "type": "synonym"
                },
                {
                    "name": "DURS2",
                    "type": "synonym"
                },
                {
                    "name": "NC",
                    "type": "synonym"
                },
                {
                    "name": "RHOGAP2",
                    "type": "synonym"
                }
            ],
            "record_id": "P15882-1",
            "evidence": [
                {
                    "id": "604356",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604356"
                },
                {
                    "id": "0061028",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061028"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39960-1",
            "uniprot_ac": "P39960",
            "uniprot_id": "BEM2_YEAST",
            "refseq_ac": "NP_011082",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTPase-activating protein BEM2/IPL2",
                    "type": "recommended"
                },
                {
                    "name": "Bud emergence protein 2",
                    "type": "synonym"
                },
                {
                    "name": "GTPase-activating protein BEM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BEM2",
                    "type": "recommended"
                },
                {
                    "name": "BEM2",
                    "type": "synonym"
                },
                {
                    "name": "IPL2",
                    "type": "synonym"
                },
                {
                    "name": "SUP9",
                    "type": "synonym"
                },
                {
                    "name": "TSL1",
                    "type": "synonym"
                }
            ],
            "record_id": "P39960-1",
            "evidence": [
                {
                    "id": "0061028",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061028"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30337-1",
            "uniprot_ac": "P30337",
            "uniprot_id": "CHIN_RAT",
            "refseq_ac": "NP_114472",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-chimaerin",
                    "type": "recommended"
                },
                {
                    "name": "A-chimaerin",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-chimerin",
                    "type": "synonym"
                },
                {
                    "name": "N-chimaerin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "N-chimaerin",
                    "type": "synonym"
                },
                {
                    "name": "N-chimerin",
                    "type": "synonym"
                },
                {
                    "name": "NC",
                    "type": "synonym"
                },
                {
                    "name": "Rho GTPase-activating protein 2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-chimerin",
                    "type": "synonym"
                },
                {
                    "name": "chimerin (chimaerin) 1",
                    "type": "synonym"
                },
                {
                    "name": "rho GTPase-activating protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chn1",
                    "type": "recommended"
                },
                {
                    "name": "Arhgap2",
                    "type": "synonym"
                },
                {
                    "name": "Chn1",
                    "type": "synonym"
                },
                {
                    "name": "Chn3",
                    "type": "synonym"
                },
                {
                    "name": "Chn",
                    "type": "synonym"
                }
            ],
            "record_id": "P30337-1",
            "evidence": [
                {
                    "id": "0061028",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061028"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4A9-1",
            "uniprot_ac": "Q9W4A9",
            "uniprot_id": "Q9W4A9_DROME",
            "refseq_ac": "NP_727007",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3208-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rho GTPase activating protein at 5A, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "RhoGAP5A-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RhoGAP5A",
                    "type": "recommended"
                },
                {
                    "name": "CG3208",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3208",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3208",
                    "type": "synonym"
                },
                {
                    "name": "RhoGAP5A",
                    "type": "synonym"
                },
                {
                    "name": "RhoGAP",
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                }
            ],
            "record_id": "Q9W4A9-1",
            "evidence": [
                {
                    "id": "0061028",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061028"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061028"
}