{
    "disease_id": "DOID:0080508",
    "recommended_name": {
        "id": "DOID:0080508",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080508",
        "name": "Cornelia de Lange syndrome 4",
        "description": "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0080508",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080508",
            "name": "CDLS4",
            "description": ""
        },
        {
            "id": "DOID:0080508",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080508",
            "name": "Cornelia De Lange syndrome 4 with or without midline brain defects",
            "description": ""
        },
        {
            "id": "MONDO:0013864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013864",
            "name": "Cornelia de Lange syndrome 4",
            "description": "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene."
        },
        {
            "id": "MONDO:0013864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013864",
            "name": "Cornelia De Lange syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013864",
            "name": "Cornelia de Lange syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0013864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013864",
            "name": "Cornelia de Lange syndrome caused by mutation in RAD21",
            "description": ""
        },
        {
            "id": "MONDO:0013864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013864",
            "name": "RAD21 Cornelia de Lange syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013864",
            "name": "CDLS4",
            "description": ""
        },
        {
            "id": "MIM:614701",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614701",
            "name": "Cornelia de Lange syndrome 4 with or without midline brain defects",
            "description": "Cornelia de Lange syndrome 4 with or without midline brain defects"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080508"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080508",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080508",
            "categories": []
        },
        {
            "id": "MONDO:0013864",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013864",
            "categories": []
        },
        {
            "id": "MIM:614701",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614701",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6TEL1-1",
            "uniprot_ac": "Q6TEL1",
            "uniprot_id": "RA21A_DANRE",
            "refseq_ac": "NP_955889",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Double-strand-break repair protein rad21 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "64-kDa carboxy-terminal product",
                    "type": "synonym"
                },
                {
                    "name": "RAD21 homolog a",
                    "type": "synonym"
                },
                {
                    "name": "SCC1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "double-strand-break repair protein rad21 homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rad21a",
                    "type": "recommended"
                },
                {
                    "name": "SCC1",
                    "type": "synonym"
                },
                {
                    "name": "rad21a",
                    "type": "synonym"
                },
                {
                    "name": "rad21",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb55d02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb93f04",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6TEL1-1",
            "evidence": [
                {
                    "id": "0080508",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080508"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1L8E1-1",
            "uniprot_ac": "Q1L8E1",
            "uniprot_id": "Q1L8E1_DANRE",
            "refseq_ac": "NP_001038585",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAD21 cohesin complex component b",
                    "type": "synonym"
                },
                {
                    "name": "RAD21 homolog b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rad21b",
                    "type": "recommended"
                },
                {
                    "name": "rad21b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-246f9.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L8E1-1",
            "evidence": [
                {
                    "id": "0080508",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080508"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61550-1",
            "uniprot_ac": "Q61550",
            "uniprot_id": "RAD21_MOUSE",
            "refseq_ac": "NP_033035",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Double-strand-break repair protein rad21 homolog",
                    "type": "recommended"
                },
                {
                    "name": "64-kDa carboxy-terminal product",
                    "type": "synonym"
                },
                {
                    "name": "PW29",
                    "type": "synonym"
                },
                {
                    "name": "Pokeweed agglutinin-binding protein 29",
                    "type": "synonym"
                },
                {
                    "name": "RAD21 homolog",
                    "type": "synonym"
                },
                {
                    "name": "SCC1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "double-strand-break repair protein rad21 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mHR21",
                    "type": "synonym"
                },
                {
                    "name": "pokeweed agglutinin-binding protein 29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rad21",
                    "type": "recommended"
                },
                {
                    "name": "Hr21",
                    "type": "synonym"
                },
                {
                    "name": "Rad21",
                    "type": "synonym"
                },
                {
                    "name": "SCC1",
                    "type": "synonym"
                },
                {
                    "name": "Scc1",
                    "type": "synonym"
                },
                {
                    "name": "mHR21",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0078",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61550-1",
            "evidence": [
                {
                    "id": "0080508",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080508"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AU37-1",
            "uniprot_ac": "A2AU37",
            "uniprot_id": "RD21L_MOUSE",
            "refseq_ac": "NP_001263329",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Double-strand-break repair protein rad21-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "double-strand-break repair protein rad21-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rad21l1",
                    "type": "recommended"
                },
                {
                    "name": "Rad21l",
                    "type": "recommended"
                },
                {
                    "name": "Gm14160",
                    "type": "synonym"
                },
                {
                    "name": "MeiRAD21L",
                    "type": "synonym"
                },
                {
                    "name": "Rad21l1",
                    "type": "synonym"
                },
                {
                    "name": "Rad21l",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AU37-1",
            "evidence": [
                {
                    "id": "0080508",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080508"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60216-1",
            "uniprot_ac": "O60216",
            "uniprot_id": "RAD21_HUMAN",
            "refseq_ac": "NP_006256",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Double-strand-break repair protein rad21 homolog",
                    "type": "recommended"
                },
                {
                    "name": "64-kDa carboxy-terminal product",
                    "type": "synonym"
                },
                {
                    "name": "65-kDa carboxy-terminal product",
                    "type": "synonym"
                },
                {
                    "name": "NXP-1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear matrix protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RAD21 homolog",
                    "type": "synonym"
                },
                {
                    "name": "SCC1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "double-strand-break repair protein rad21 homolog",
                    "type": "synonym"
                },
                {
                    "name": "hHR21",
                    "type": "synonym"
                },
                {
                    "name": "kleisin",
                    "type": "synonym"
                },
                {
                    "name": "nuclear matrix protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein involved in DNA double-strand break repair",
                    "type": "synonym"
                },
                {
                    "name": "sister chromatid cohesion 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD21",
                    "type": "recommended"
                },
                {
                    "name": "CDLS4",
                    "type": "synonym"
                },
                {
                    "name": "HR21",
                    "type": "synonym"
                },
                {
                    "name": "HRAD21",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0078",
                    "type": "synonym"
                },
                {
                    "name": "MCD1",
                    "type": "synonym"
                },
                {
                    "name": "MGS",
                    "type": "synonym"
                },
                {
                    "name": "NXP1",
                    "type": "synonym"
                },
                {
                    "name": "RAD21",
                    "type": "synonym"
                },
                {
                    "name": "SCC1",
                    "type": "synonym"
                },
                {
                    "name": "hHR21",
                    "type": "synonym"
                }
            ],
            "record_id": "O60216-1",
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                {
                    "id": "614701",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614701"
                },
                {
                    "id": "0080508",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080508"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12158-1",
            "uniprot_ac": "Q12158",
            "uniprot_id": "SCC1_YEAST",
            "refseq_ac": "NP_010281",
            "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": "Sister chromatid cohesion protein 1",
                    "type": "recommended"
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                {
                    "name": "kleisin alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCD1",
                    "type": "recommended"
                },
                {
                    "name": "MCD1",
                    "type": "synonym"
                },
                {
                    "name": "PDS3",
                    "type": "synonym"
                },
                {
                    "name": "RHC21",
                    "type": "synonym"
                },
                {
                    "name": "SCC1",
                    "type": "synonym"
                },
                {
                    "name": "YD8119.04",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080508",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080508"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7EK71-1",
            "uniprot_ac": "F7EK71",
            "uniprot_id": "F7EK71_RAT",
            "refseq_ac": "NP_001020872",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAD21 cohesin complex component",
                    "type": "synonym"
                },
                {
                    "name": "RAD21 homolog",
                    "type": "synonym"
                },
                {
                    "name": "double-strand-break repair protein rad21 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rad21",
                    "type": "recommended"
                },
                {
                    "name": "Rad21",
                    "type": "synonym"
                }
            ],
            "record_id": "F7EK71-1",
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                {
                    "id": "0080508",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080508"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ADQ7-1",
            "uniprot_ac": "D4ADQ7",
            "uniprot_id": "D4ADQ7_RAT",
            "refseq_ac": "NP_001417679",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAD21 cohesin complex component like 1",
                    "type": "synonym"
                },
                {
                    "name": "RAD21-like 1",
                    "type": "synonym"
                },
                {
                    "name": "double-strand-break repair protein rad21-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rad21l1",
                    "type": "recommended"
                },
                {
                    "name": "Rad21l1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ADQ7-1",
            "evidence": [
                {
                    "id": "0080508",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080508"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95072-1",
            "uniprot_ac": "O95072",
            "uniprot_id": "REC8_HUMAN",
            "refseq_ac": "NP_001041670",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meiotic recombination protein REC8 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Cohesin Rec8p",
                    "type": "synonym"
                },
                {
                    "name": "REC8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cohesin Rec8p",
                    "type": "synonym"
                },
                {
                    "name": "cohesion rec8p",
                    "type": "synonym"
                },
                {
                    "name": "human homolog of rad21, S. pombe",
                    "type": "synonym"
                },
                {
                    "name": "kleisin-alpha",
                    "type": "synonym"
                },
                {
                    "name": "meiotic recombination and sister chromatid cohesion phosphoprotein of the rad21p family",
                    "type": "synonym"
                },
                {
                    "name": "meiotic recombination protein REC8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "meiotic recombination protein REC8-like 1",
                    "type": "synonym"
                },
                {
                    "name": "recombination and sister chromatid cohesion protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "REC8",
                    "type": "recommended"
                },
                {
                    "name": "HR21spB",
                    "type": "synonym"
                },
                {
                    "name": "REC8L1",
                    "type": "synonym"
                },
                {
                    "name": "REC8",
                    "type": "synonym"
                },
                {
                    "name": "Rec8p",
                    "type": "synonym"
                }
            ],
            "record_id": "O95072-1",
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                {
                    "id": "0080508",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080508"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H4I0-1",
            "uniprot_ac": "Q9H4I0",
            "uniprot_id": "RD21L_HUMAN",
            "refseq_ac": "NP_001130038",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Double-strand-break repair protein rad21-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RAD21-like 1",
                    "type": "synonym"
                },
                {
                    "name": "double-strand-break repair protein rad21-like protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "double-strand-break repair protein rad21-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD21L1",
                    "type": "recommended"
                },
                {
                    "name": "RAD21L1",
                    "type": "synonym"
                },
                {
                    "name": "RAD21L",
                    "type": "synonym"
                },
                {
                    "name": "dJ545L17.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H4I0-1",
            "evidence": [
                {
                    "id": "0080508",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080508"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080508"
}