{
    "disease_id": "DOID:14780",
    "recommended_name": {
        "id": "DOID:14780",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14780",
        "name": "KBG syndrome",
        "description": "A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton."
    },
    "synonyms": [
        {
            "id": "MONDO:0007846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007846",
            "name": "KBG syndrome",
            "description": "KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay."
        },
        {
            "id": "MONDO:0007846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007846",
            "name": "KBG syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007846",
            "name": "short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007846",
            "name": "KBGS",
            "description": ""
        },
        {
            "id": "MONDO:0007846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007846",
            "name": "short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0007846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007846",
            "name": "KBG syndrome; KBGS",
            "description": ""
        },
        {
            "id": "MONDO:0007846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007846",
            "name": "macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies",
            "description": ""
        },
        {
            "id": "MIM:148050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/148050",
            "name": "KBG syndrome",
            "description": "KBG syndrome"
        }
    ]
}