{
    "disease_id": "DOID:0090113", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012764", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012764", 
            "name": "radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012764", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012764", 
            "name": "radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012764", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012764", 
            "name": "RNF168 deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090113", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090113", 
            "name": "RNF168 deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090113", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090113", 
            "name": "Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090113", 
        "description": "A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090113", 
        "name": "RIDDLE syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090113#disease-associations", 
            "id": "0090113", 
            "database": "Alliance of Genome Resources"
        }
    ]
}