{
    "disease_id": "DOID:0090113",
    "recommended_name": {
        "id": "DOID:0090113",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090113",
        "name": "RIDDLE syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0090113",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090113",
            "name": "RNF168 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090113",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090113",
            "name": "Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012764",
            "name": "RIDDLE syndrome",
            "description": "An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has_material_basis_in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29."
        },
        {
            "id": "MONDO:0012764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012764",
            "name": "radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties",
            "description": ""
        },
        {
            "id": "MONDO:0012764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012764",
            "name": "RIDDLE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012764",
            "name": "radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012764",
            "name": "RNF168 deficiency",
            "description": ""
        },
        {
            "id": "MIM:611943",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611943",
            "name": "Riddle syndrome",
            "description": "Riddle syndrome"
        }
    ]
}