{
    "disease_id": "DOID:0060473",
    "recommended_name": {
        "id": "DOID:0060473",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060473",
        "name": "Kabuki syndrome",
        "description": "A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects."
    },
    "synonyms": [
        {
            "id": "DOID:0060473",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060473",
            "name": "KMS",
            "description": ""
        },
        {
            "id": "DOID:0060473",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060473",
            "name": "Kabuki make up syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060473",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060473",
            "name": "Niikawa-Kuroki syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007843",
            "name": "Kabuki syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007843",
            "name": "Kabuki syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007843",
            "name": "Kabuki syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007843",
            "name": "KABUK1",
            "description": ""
        },
        {
            "id": "MONDO:0010465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010465",
            "name": "Kabuki syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0010465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010465",
            "name": "Kabuki syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0010465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010465",
            "name": "Kabuki syndrome 2, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010465",
            "name": "Kabuki syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010465",
            "name": "KABUK2",
            "description": ""
        },
        {
            "id": "MIM:147920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/147920",
            "name": "Kabuki syndrome 1",
            "description": "Kabuki syndrome 1"
        },
        {
            "id": "MIM:300867",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300867",
            "name": "Kabuki syndrome 2",
            "description": "Kabuki syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060473"
    ],
    "unlinked_id_list": []
}