{
    "disease_id": "DOID:0070057", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014376", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014376", 
            "name": "intellectual disability, autosomal dominant 27"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014376", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014376", 
            "name": "mental retardation, autosomal dominant 27"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014376", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014376", 
            "name": "mental retardation, autosomal dominant 27; MRD27"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014376", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014376", 
            "name": "MRD27"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014376", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014376", 
            "name": "autosomal dominant non-syndromic intellectual disability 27"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014376", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014376", 
            "name": "mental retardation, autosomal dominant type 27"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014376", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014376", 
            "name": "autosomal dominant mental retardation 27"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070057", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070057", 
            "name": "autosomal dominant non-syndromic intellectual disability 27"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070057", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070057", 
            "name": "MRD27"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070057", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070057", 
            "name": "autosomal dominant mental retardation 27"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070057", 
        "description": "An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of SOX11 on chromosome 2p25.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070057", 
        "name": "Coffin-Siris syndrome 9"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/615866", 
            "id": "615866", 
            "database": "MIM"
        }
    ]
}