{
    "disease_id": "DOID:1933", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013364", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013364", 
            "name": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013364", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013364", 
            "name": "EP300 Rubinstein-Taybi syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013364", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013364", 
            "name": "Rubinstein-Taybi syndrome 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013364", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013364", 
            "name": "Rubinstein-Taybi syndrome type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013364", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013364", 
            "name": "RSTS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013364", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013364", 
            "name": "Rubinstein-Taybi syndrome caused by mutation in EP300"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013364", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013364", 
            "name": "Rubinstein-Taybi syndrome 2; RSTS2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:1933", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:1933", 
            "name": "Broad Thumb-Hallux syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:1933", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:1933", 
            "name": "Rubinstein syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:1933", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:1933", 
            "name": "proximal chromosome 16p13.3 deletion syndrome"
        }, 
        {
            "url": "https://www.omim.org/entry/613684", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:613684", 
            "name": "Rubinstein-Taybi syndrome 2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:1933", 
        "description": "A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.", 
        "resource": "Disease Ontology", 
        "id": "DOID:1933", 
        "name": "Rubinstein-Taybi syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/613684", 
            "id": "613684", 
            "database": "MIM"
        }
    ]
}