{
    "disease_id": "DOID:0080507",
    "recommended_name": {
        "id": "DOID:0080507",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080507",
        "name": "Cornelia de Lange syndrome 3",
        "description": "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2."
    },
    "synonyms": [
        {
            "id": "DOID:0080507",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080507",
            "name": "CDLS3",
            "description": ""
        },
        {
            "id": "DOID:0080507",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080507",
            "name": "Cornelia De Lange syndrome 3 with or without midline brain defects",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "Cornelia de Lange syndrome 3",
            "description": "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene."
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "Cornelia De Lange syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "Cornelia de Lange syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "Cornelia de Lange syndrome caused by mutation in SMC3",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "Cornelia de Lange syndrome caused by mutation in Smc3",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "SMC3 Cornelia de Lange syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "Smc3 Cornelia de Lange syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "CDLS3",
            "description": ""
        },
        {
            "id": "MIM:610759",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610759",
            "name": "Cornelia de Lange syndrome 3 with or without midline brain defects",
            "description": "Cornelia de Lange syndrome 3 with or without midline brain defects"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080507"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080507",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080507",
            "categories": []
        },
        {
            "id": "MONDO:0012555",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "categories": []
        },
        {
            "id": "MIM:610759",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610759",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CW03-1",
            "uniprot_ac": "Q9CW03",
            "uniprot_id": "SMC3_MOUSE",
            "refseq_ac": "NP_031816",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Bamacan",
                    "type": "synonym"
                },
                {
                    "name": "Basement membrane-associated chondroitin proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin sulfate proteoglycan 6",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome segregation protein SmcD",
                    "type": "synonym"
                },
                {
                    "name": "Mad member-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SMC protein 3",
                    "type": "synonym"
                },
                {
                    "name": "SMC-3",
                    "type": "synonym"
                },
                {
                    "name": "basement membrane-associated chondroitin proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin sulfate proteoglycan 6",
                    "type": "synonym"
                },
                {
                    "name": "chromosome segregation protein SmcD",
                    "type": "synonym"
                },
                {
                    "name": "mad member-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "structural maintenace of chromosomes 3",
                    "type": "synonym"
                },
                {
                    "name": "structural maintenance of chromosomes protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smc3",
                    "type": "recommended"
                },
                {
                    "name": "Bamacan",
                    "type": "synonym"
                },
                {
                    "name": "Bam",
                    "type": "synonym"
                },
                {
                    "name": "Bmh",
                    "type": "synonym"
                },
                {
                    "name": "Cspg6",
                    "type": "synonym"
                },
                {
                    "name": "HCAP",
                    "type": "synonym"
                },
                {
                    "name": "Mmip1",
                    "type": "synonym"
                },
                {
                    "name": "SMC-3",
                    "type": "synonym"
                },
                {
                    "name": "Smc3l1",
                    "type": "synonym"
                },
                {
                    "name": "Smc3",
                    "type": "synonym"
                },
                {
                    "name": "SmcD",
                    "type": "synonym"
                },
                {
                    "name": "Smcd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CW03-1",
            "evidence": [
                {
                    "id": "0080507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080507"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UQE7-1",
            "uniprot_ac": "Q9UQE7",
            "uniprot_id": "SMC3_HUMAN",
            "refseq_ac": "NP_005436",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Bamacan",
                    "type": "synonym"
                },
                {
                    "name": "Basement membrane-associated chondroitin proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin sulfate proteoglycan 6",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome-associated polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "SMC protein 3",
                    "type": "synonym"
                },
                {
                    "name": "SMC-3",
                    "type": "synonym"
                },
                {
                    "name": "basement membrane-associated chondroitin proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin sulfate proteoglycan 6 (bamacan)",
                    "type": "synonym"
                },
                {
                    "name": "chromosome-associated polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "hCAP",
                    "type": "synonym"
                },
                {
                    "name": "structural maintenance of chromosomes protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMC3",
                    "type": "recommended"
                },
                {
                    "name": "BAM",
                    "type": "synonym"
                },
                {
                    "name": "BMH",
                    "type": "synonym"
                },
                {
                    "name": "CDLS3",
                    "type": "synonym"
                },
                {
                    "name": "CSPG6",
                    "type": "synonym"
                },
                {
                    "name": "HCAP",
                    "type": "synonym"
                },
                {
                    "name": "SMC3L1",
                    "type": "synonym"
                },
                {
                    "name": "SMC3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UQE7-1",
            "evidence": [
                {
                    "id": "610759",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610759"
                },
                {
                    "id": "0080507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080507"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47037-1",
            "uniprot_ac": "P47037",
            "uniprot_id": "SMC3_YEAST",
            "refseq_ac": "NP_012461",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes protein 3",
                    "type": "recommended"
                },
                {
                    "name": "DA-box protein SMC3",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SMC3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMC3",
                    "type": "recommended"
                },
                {
                    "name": "J1049",
                    "type": "synonym"
                },
                {
                    "name": "SMC3",
                    "type": "synonym"
                }
            ],
            "record_id": "P47037-1",
            "evidence": [
                {
                    "id": "0080507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080507"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97690-1",
            "uniprot_ac": "P97690",
            "uniprot_id": "SMC3_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Bamacan",
                    "type": "synonym"
                },
                {
                    "name": "Basement membrane-associated chondroitin proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin sulfate proteoglycan 6",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome segregation protein SmcD",
                    "type": "synonym"
                },
                {
                    "name": "SMC protein 3",
                    "type": "synonym"
                },
                {
                    "name": "SMC-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smc3",
                    "type": "recommended"
                },
                {
                    "name": "Bam",
                    "type": "synonym"
                },
                {
                    "name": "Bmh",
                    "type": "synonym"
                },
                {
                    "name": "Cspg6",
                    "type": "synonym"
                },
                {
                    "name": "Smc3l1",
                    "type": "synonym"
                }
            ],
            "record_id": "P97690-1",
            "evidence": [
                {
                    "id": "0080507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080507"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXE9-1",
            "uniprot_ac": "Q9VXE9",
            "uniprot_id": "Q9VXE9_DROME",
            "refseq_ac": "NP_523374",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes protein",
                    "type": "recommended"
                },
                {
                    "name": "CG9802-PA",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "SMC3-PA",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SMC3",
                    "type": "synonym"
                },
                {
                    "name": "structural maintenance of chromosomes 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMC3",
                    "type": "recommended"
                },
                {
                    "name": "CAP",
                    "type": "synonym"
                },
                {
                    "name": "CG9802",
                    "type": "synonym"
                },
                {
                    "name": "Cap",
                    "type": "synonym"
                },
                {
                    "name": "DmSMC3/Cap",
                    "type": "synonym"
                },
                {
                    "name": "DmSMC3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9802",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9802",
                    "type": "synonym"
                },
                {
                    "name": "SMC3",
                    "type": "synonym"
                },
                {
                    "name": "Smc3",
                    "type": "synonym"
                },
                {
                    "name": "cap",
                    "type": "synonym"
                },
                {
                    "name": "dCAP",
                    "type": "synonym"
                },
                {
                    "name": "dSMC3",
                    "type": "synonym"
                },
                {
                    "name": "smc3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXE9-1",
            "evidence": [
                {
                    "id": "0080507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080507"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080507"
}