{
    "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": []
}