{
    "disease_id": "DOID:0112339",
    "recommended_name": {
        "id": "DOID:0112339",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112339",
        "name": "Tatton-Brown-Rahman syndrome",
        "description": "A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112339",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112339",
            "name": "DNMT3A overgrowth syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112339",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112339",
            "name": "TBRS",
            "description": ""
        },
        {
            "id": "DOID:0112339",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112339",
            "name": "DOS",
            "description": ""
        },
        {
            "id": "DOID:0112339",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112339",
            "name": "Tatton-Brown-Rahman overgrowth syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014382",
            "name": "Tatton-Brown-Rahman overgrowth syndrome",
            "description": "A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures."
        },
        {
            "id": "MONDO:0014382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014382",
            "name": "DNMT3A-related overgrowth syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014382",
            "name": "Tatton-Brown-Rahman overgrowth syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014382",
            "name": "tall stature-intellectual disability-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014382",
            "name": "TATTON-BROWN-Rahman syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014382",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014382",
            "name": "TBRS",
            "description": ""
        },
        {
            "id": "MIM:615879",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615879",
            "name": "Tatton-Brown-Rahman syndrome",
            "description": "Tatton-Brown-Rahman syndrome"
        }
    ]
}