{
    "disease_id": "DOID:0080505",
    "recommended_name": {
        "id": "DOID:0080505",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080505",
        "name": "Cornelia de Lange syndrome 1",
        "description": "A Cornelia de Lange syndrome characterized by facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, impaired intellectual development, and, in many cases, upper limb anomalies that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "Cornelia de Lange syndrome 1",
            "description": "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene."
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "Cornelia De Lange syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "Cornelia de Lange syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "Cornelia de Lange syndrome caused by mutation in NIPBL",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "NIPBL Cornelia de Lange syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "CDLS1",
            "description": ""
        },
        {
            "id": "MIM:122470",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/122470",
            "name": "Cornelia de Lange syndrome 1",
            "description": "Cornelia de Lange syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080505"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080505",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080505",
            "categories": []
        },
        {
            "id": "MONDO:0007387",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "categories": []
        },
        {
            "id": "MIM:122470",
            "database": "MIM",
            "url": "https://www.omim.org/entry/122470",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F5HSE3-1",
            "uniprot_ac": "F5HSE3",
            "uniprot_id": "NIPLA_DANRE",
            "refseq_ac": "NP_001233213",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nipped-B-like protein A",
                    "type": "recommended"
                },
                {
                    "name": "nipped-B homolog a",
                    "type": "synonym"
                },
                {
                    "name": "nipped-B-like protein A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nipbla",
                    "type": "recommended"
                },
                {
                    "name": "nipbla",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-234b6.2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-311f13.1",
                    "type": "synonym"
                }
            ],
            "record_id": "F5HSE3-1",
            "evidence": [
                {
                    "id": "0080505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QBY1-1",
            "uniprot_ac": "F1QBY1",
            "uniprot_id": "NIPLB_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nipped-B-like protein B",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "nipblb",
                    "type": "recommended"
                },
                {
                    "name": "fc12g03",
                    "type": "synonym"
                },
                {
                    "name": "nipbla",
                    "type": "synonym"
                },
                {
                    "name": "nipbl",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc12g03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi33d08",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QBY1-1",
            "evidence": [
                {
                    "id": "0080505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6KCD5-1",
            "uniprot_ac": "Q6KCD5",
            "uniprot_id": "NIPBL_MOUSE",
            "refseq_ac": "NP_081983",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nipped-B-like protein",
                    "type": "recommended"
                },
                {
                    "name": "Delangin homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nipped-B homolog",
                    "type": "synonym"
                },
                {
                    "name": "SCC2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "delangin homolog",
                    "type": "synonym"
                },
                {
                    "name": "nipped-B-like protein isoform a",
                    "type": "synonym"
                },
                {
                    "name": "nipped-B-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nipbl",
                    "type": "recommended"
                },
                {
                    "name": "Idn3",
                    "type": "synonym"
                },
                {
                    "name": "Nipbl",
                    "type": "synonym"
                },
                {
                    "name": "Scc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6KCD5-1",
            "evidence": [
                {
                    "id": "0080505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6KC79-1",
            "uniprot_ac": "Q6KC79",
            "uniprot_id": "NIPBL_HUMAN",
            "refseq_ac": "NP_056199",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nipped-B-like protein",
                    "type": "recommended"
                },
                {
                    "name": "Delangin",
                    "type": "synonym"
                },
                {
                    "name": "Nipped-B homolog",
                    "type": "synonym"
                },
                {
                    "name": "SCC2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "delangin",
                    "type": "synonym"
                },
                {
                    "name": "nipped-B-like protein isoform B",
                    "type": "synonym"
                },
                {
                    "name": "nipped-B-like protein",
                    "type": "synonym"
                },
                {
                    "name": "sister chromatid cohesion 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NIPBL",
                    "type": "recommended"
                },
                {
                    "name": "CDLS1",
                    "type": "synonym"
                },
                {
                    "name": "CDLS",
                    "type": "synonym"
                },
                {
                    "name": "IDN3-B",
                    "type": "synonym"
                },
                {
                    "name": "IDN3",
                    "type": "synonym"
                },
                {
                    "name": "NIPBL",
                    "type": "synonym"
                },
                {
                    "name": "SCC2",
                    "type": "synonym"
                },
                {
                    "name": "Scc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6KC79-1",
            "evidence": [
                {
                    "id": "122470",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/122470"
                },
                {
                    "id": "0080505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04002-1",
            "uniprot_ac": "Q04002",
            "uniprot_id": "SCC2_YEAST",
            "refseq_ac": "NP_010466",
            "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": "Sister chromatid cohesion protein 2",
                    "type": "recommended"
                },
                {
                    "name": "cohesin-loading factor complex subunit SCC2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCC2",
                    "type": "recommended"
                },
                {
                    "name": "SCC2",
                    "type": "synonym"
                },
                {
                    "name": "YD9395.14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04002-1",
            "evidence": [
                {
                    "id": "0080505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K0J4-1",
            "uniprot_ac": "A0A0G2K0J4",
            "uniprot_id": "A0A0G2K0J4_RAT",
            "refseq_ac": "NP_001414626",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nipped-B protein",
                    "type": "recommended"
                },
                {
                    "name": "Nipped-B homolog",
                    "type": "synonym"
                },
                {
                    "name": "delangin",
                    "type": "synonym"
                },
                {
                    "name": "nipped-B-like protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nipped-B-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nipbl",
                    "type": "recommended"
                },
                {
                    "name": "IDN3",
                    "type": "synonym"
                },
                {
                    "name": "Nipbl",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K0J4-1",
            "evidence": [
                {
                    "id": "0080505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7PLI2-1",
            "uniprot_ac": "Q7PLI2",
            "uniprot_id": "NIPB_DROME",
            "refseq_ac": "NP_001036451",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nipped-B protein",
                    "type": "recommended"
                },
                {
                    "name": "CG17704-PF",
                    "type": "synonym"
                },
                {
                    "name": "NipB",
                    "type": "synonym"
                },
                {
                    "name": "Nipped-B, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Nipped-B-PF",
                    "type": "synonym"
                },
                {
                    "name": "NippedB",
                    "type": "synonym"
                },
                {
                    "name": "SCC2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "nipped B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nipped-B",
                    "type": "recommended"
                },
                {
                    "name": "CG17704",
                    "type": "synonym"
                },
                {
                    "name": "CG40281",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17704",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17704",
                    "type": "synonym"
                },
                {
                    "name": "NIPPED-B",
                    "type": "synonym"
                },
                {
                    "name": "Nip-B",
                    "type": "synonym"
                },
                {
                    "name": "NipB",
                    "type": "synonym"
                },
                {
                    "name": "Nipped-B",
                    "type": "synonym"
                },
                {
                    "name": "l(2)02047",
                    "type": "synonym"
                },
                {
                    "name": "nipped-B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7PLI2-1",
            "evidence": [
                {
                    "id": "0080505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080505"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080505"
}