{
    "disease_id": "DOID:0111255",
    "recommended_name": {
        "id": "DOID:0111255",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111255",
        "name": "McKusick-Kaufman syndrome",
        "description": "A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111255",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111255",
            "name": "HMCS",
            "description": ""
        },
        {
            "id": "DOID:0111255",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111255",
            "name": "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation",
            "description": ""
        },
        {
            "id": "DOID:0111255",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111255",
            "name": "Kaufman McKusick syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111255",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111255",
            "name": "MKKS",
            "description": ""
        },
        {
            "id": "DOID:0111255",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111255",
            "name": "hydrometrocolpos syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111255",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111255",
            "name": "hydrometrocolpos-postaxial polydactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009367",
            "name": "McKusick-Kaufman syndrome",
            "description": "McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations."
        },
        {
            "id": "MONDO:0009367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009367",
            "name": "Kaufman-Mckusick syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009367",
            "name": "McKusick-Kaufman syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009367",
            "name": "hydrometrocolpos-postaxial polydactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009367",
            "name": "HMCS",
            "description": ""
        },
        {
            "id": "MONDO:0009367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009367",
            "name": "Kaufman McKusick syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009367",
            "name": "MKKS",
            "description": ""
        },
        {
            "id": "MONDO:0009367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009367",
            "name": "McKusick Kaufman syndrome",
            "description": ""
        },
        {
            "id": "MIM:236700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/236700",
            "name": "McKusick-Kaufman syndrome",
            "description": "McKusick-Kaufman syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111255"
    ],
    "unlinked_id_list": []
}