{
    "disease_id": "DOID:0060535",
    "recommended_name": {
        "id": "DOID:0060535",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060535",
        "name": "Warsaw breakage syndrome",
        "description": "A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11."
    },
    "synonyms": [
        {
            "id": "DOID:0060535",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060535",
            "name": "WABS",
            "description": ""
        },
        {
            "id": "MONDO:0013252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013252",
            "name": "Warsaw breakage syndrome",
            "description": "A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11."
        },
        {
            "id": "MONDO:0013252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013252",
            "name": "WABS",
            "description": ""
        },
        {
            "id": "MONDO:0013252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013252",
            "name": "Warsaw breakage syndrome",
            "description": ""
        },
        {
            "id": "MIM:613398",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613398",
            "name": "Warsaw breakage syndrome",
            "description": "Warsaw breakage syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060535"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060535",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060535",
            "categories": []
        },
        {
            "id": "MONDO:0013252",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013252",
            "categories": []
        },
        {
            "id": "MIM:613398",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613398",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R345-1",
            "uniprot_ac": "F1R345",
            "uniprot_id": "DDX11_DANRE",
            "refseq_ac": "NP_001007320",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase DDX11",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase DDX11",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H-box protein 11",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase DDX11",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent DNA helicase DDX11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ddx11",
                    "type": "recommended"
                },
                {
                    "name": "ddx11",
                    "type": "synonym"
                },
                {
                    "name": "fa08b08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa08b08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92172",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R345-1",
            "evidence": [
                {
                    "id": "0060535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AXC6-1",
            "uniprot_ac": "Q6AXC6",
            "uniprot_id": "DDX11_MOUSE",
            "refseq_ac": "NP_001003919",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase DDX11",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase DDX11 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase DDX11",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H-box protein 11",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase DDX11",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent RNA helicase DDX11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddx11",
                    "type": "recommended"
                },
                {
                    "name": "4732462I11Rik",
                    "type": "synonym"
                },
                {
                    "name": "CHL1",
                    "type": "synonym"
                },
                {
                    "name": "CHLR1",
                    "type": "synonym"
                },
                {
                    "name": "Ddx11",
                    "type": "synonym"
                },
                {
                    "name": "KRG2",
                    "type": "synonym"
                },
                {
                    "name": "essa15a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AXC6-1",
            "evidence": [
                {
                    "id": "0060535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96FC9-1",
            "uniprot_ac": "Q96FC9",
            "uniprot_id": "DDX11_HUMAN",
            "refseq_ac": "NP_001244073",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase DDX11",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase DDX11 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "CHL1-related helicase gene-1",
                    "type": "synonym"
                },
                {
                    "name": "CHL1-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H box protein 11",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H-box protein 11",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase DDX11",
                    "type": "synonym"
                },
                {
                    "name": "KRG-2",
                    "type": "synonym"
                },
                {
                    "name": "Keratinocyte growth factor-regulated gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "hCHLR1",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte growth factor-regulated gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent DNA helicase DDX11",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent RNA helicase DDX11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDX11",
                    "type": "recommended"
                },
                {
                    "name": "CHL1",
                    "type": "synonym"
                },
                {
                    "name": "CHLR1",
                    "type": "synonym"
                },
                {
                    "name": "DDX11",
                    "type": "synonym"
                },
                {
                    "name": "KRG2",
                    "type": "synonym"
                },
                {
                    "name": "WABS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96FC9-1",
            "evidence": [
                {
                    "id": "613398",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613398"
                },
                {
                    "id": "0060535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22516-1",
            "uniprot_ac": "P22516",
            "uniprot_id": "CHL1_YEAST",
            "refseq_ac": "NP_015317",
            "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": "ATP-dependent DNA helicase CHL1",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome loss protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome transmission fidelity protein 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase CHL1",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHL1",
                    "type": "recommended"
                },
                {
                    "name": "CHL1",
                    "type": "synonym"
                },
                {
                    "name": "CTF1",
                    "type": "synonym"
                },
                {
                    "name": "LPA9",
                    "type": "synonym"
                },
                {
                    "name": "MCM12",
                    "type": "synonym"
                },
                {
                    "name": "YP8132.05",
                    "type": "synonym"
                }
            ],
            "record_id": "P22516-1",
            "evidence": [
                {
                    "id": "0060535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LEZ3-1",
            "uniprot_ac": "A0ABK0LEZ3",
            "uniprot_id": "A0ABK0LEZ3_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase DDX11",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H-box protein 11",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase DDX11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddx11",
                    "type": "recommended"
                },
                {
                    "name": "ENSRNOG00000068893",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LEZ3-1",
            "evidence": [
                {
                    "id": "0060535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00959-1",
            "uniprot_ac": "Q00959",
            "uniprot_id": "NMDE1_RAT",
            "refseq_ac": "NP_036705",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor ionotropic, NMDA 2A",
                    "type": "recommended"
                },
                {
                    "name": "GluN2A",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate [NMDA] receptor subunit epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl D-aspartate receptor subtype 2A",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl-D-aspartate receptor subunit 2A",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR2A",
                    "type": "synonym"
                },
                {
                    "name": "NR2A",
                    "type": "synonym"
                },
                {
                    "name": "glutamate [NMDA] receptor subunit epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2A precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2A",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, ionotropic, N-methyl D-aspartate 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grin2a",
                    "type": "recommended"
                },
                {
                    "name": "GluN2A",
                    "type": "synonym"
                },
                {
                    "name": "Grin2a",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR2A",
                    "type": "synonym"
                },
                {
                    "name": "NR2A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00959-1",
            "evidence": [
                {
                    "id": "0060535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35439-1",
            "uniprot_ac": "P35439",
            "uniprot_id": "NMDZ1_RAT",
            "refseq_ac": "NP_001257531",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor ionotropic, NMDA 1",
                    "type": "recommended"
                },
                {
                    "name": "GluN1",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate [NMDA] receptor subunit zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl-D-aspartate glutamate receptor",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl-D-aspartate receptor subunit NR1",
                    "type": "synonym"
                },
                {
                    "name": "NMD-R1",
                    "type": "synonym"
                },
                {
                    "name": "NMDA R1 receptor C1 cassette",
                    "type": "synonym"
                },
                {
                    "name": "glutamate [NMDA] receptor subunit zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 1 isoform 1b precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, ionotropic, N-methyl D-aspartate 1",
                    "type": "synonym"
                },
                {
                    "name": "neurotransmitter receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grin1",
                    "type": "recommended"
                },
                {
                    "name": "GluN1",
                    "type": "synonym"
                },
                {
                    "name": "Grin1",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR1",
                    "type": "synonym"
                },
                {
                    "name": "NR1",
                    "type": "synonym"
                },
                {
                    "name": "Nmdar1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35439-1",
            "evidence": [
                {
                    "id": "0060535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XZS9-1",
            "uniprot_ac": "Q9XZS9",
            "uniprot_id": "Q9XZS9_DROME",
            "refseq_ac": "NP_569898",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA 5'-3' helicase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "CG11403-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cg11403",
                    "type": "recommended"
                },
                {
                    "name": "CG11403",
                    "type": "synonym"
                },
                {
                    "name": "Chl1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11403",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11403",
                    "type": "synonym"
                },
                {
                    "name": "EG:33C11.2",
                    "type": "synonym"
                },
                {
                    "name": "cg11403",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XZS9-1",
            "evidence": [
                {
                    "id": "0060535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92771-1",
            "uniprot_ac": "Q92771",
            "uniprot_id": "DDX12_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative ATP-dependent DNA helicase DDX12",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "CHL1-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H box protein 12",
                    "type": "synonym"
                },
                {
                    "name": "hCHLR2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDX12P",
                    "type": "recommended"
                },
                {
                    "name": "CHLR2",
                    "type": "synonym"
                },
                {
                    "name": "DDX12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92771-1",
            "evidence": [
                {
                    "id": "0060535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8MPP1-1",
            "uniprot_ac": "A8MPP1",
            "uniprot_id": "D11L8_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative ATP-dependent DNA helicase DDX11-like protein 8",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H box protein 11-like 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDX11L8",
                    "type": "recommended"
                }
            ],
            "record_id": "A8MPP1-1",
            "evidence": [
                {
                    "id": "0060535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060535"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060535"
}