{
    "disease_id": "DOID:0080506",
    "recommended_name": {
        "id": "DOID:0080506",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080506",
        "name": "Cornelia de Lange syndrome 2",
        "description": "A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "Cornelia de Lange syndrome 2",
            "description": "An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation."
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "Cornelia De Lange syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "Cornelia de Lange syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "Cornelia de Lange syndrome 2, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "Cornelia de Lange syndrome caused by mutation in SMC1A",
            "description": ""
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "SMC1A Cornelia de Lange syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "X-linked Cornelia De Lange syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "CDLS2",
            "description": ""
        },
        {
            "id": "MIM:300590",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300590",
            "name": "Cornelia de Lange syndrome 2",
            "description": "Cornelia de Lange syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080506"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080506",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080506",
            "categories": []
        },
        {
            "id": "MONDO:0010370",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "categories": []
        },
        {
            "id": "MIM:300590",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300590",
            "categories": []
        }
    ],
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            "uniprot_ac": "E7F0X6",
            "uniprot_id": "E7F0X6_DANRE",
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            "species": [
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Structural maintenance of chromosomes protein",
                    "type": "recommended"
                },
                {
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            ],
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                    "name": "smc1a",
                    "type": "recommended"
                },
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                    "type": "synonym"
                },
                {
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                    "type": "synonym"
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            ],
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                }
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                    "name": "Structural maintenance of chromosomes protein",
                    "type": "recommended"
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                    "common_name": "Mouse",
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                }
            ],
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                    "type": "recommended"
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                },
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                    "type": "synonym"
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                    "name": "Smc1a",
                    "type": "recommended"
                },
                {
                    "name": "5830426I24Rik",
                    "type": "synonym"
                },
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                    "type": "synonym"
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                {
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                    "type": "synonym"
                },
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                    "type": "synonym"
                },
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                    "type": "synonym"
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                {
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "mKIAA0178",
                    "type": "synonym"
                }
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                    "id": "0080506",
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes protein 1B",
                    "type": "recommended"
                },
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                    "type": "synonym"
                },
                {
                    "name": "SMC-1-beta",
                    "type": "synonym"
                },
                {
                    "name": "SMC-1B",
                    "type": "synonym"
                },
                {
                    "name": "structural maintenace of chromosomes 1B",
                    "type": "synonym"
                },
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                    "type": "synonym"
                }
            ],
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                    "name": "Smc1b",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "SMC1beta",
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                },
                {
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
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                    "type": "recommended"
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                },
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                    "name": "epididymis secretory sperm binding protein",
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                    "type": "recommended"
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                },
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                    "name": "DEE85",
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                },
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                    "name": "DXS423E",
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                    "name": "KIAA0178",
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                    "id": "0080506",
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                    "name": "Structural maintenance of chromosomes protein",
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                    "id": "0080506",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080506"
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                    "name": "Drosophila melanogaster",
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                    "name": "cohesin subunit SMC1",
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                    "id": "0080506",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080506"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080506"
}