{
    "disease_id": "DOID:0090113",
    "recommended_name": {
        "id": "DOID:0090113",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0090113",
            "name": "RNF168 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090113",
            "resource": "Disease Ontology",
            "url": "https://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": "RIDDLE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012764",
            "name": "RNF168 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012764",
            "name": "radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome",
            "description": ""
        },
        {
            "id": "MIM:611943",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611943",
            "name": "Riddle syndrome",
            "description": "Riddle syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090113"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090113",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090113",
            "categories": []
        },
        {
            "id": "MONDO:0012764",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012764",
            "categories": []
        },
        {
            "id": "MIM:611943",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611943",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7T308-1",
            "uniprot_ac": "Q7T308",
            "uniprot_id": "RN168_DANRE",
            "refseq_ac": "NP_956149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase rnf168",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase rnf168",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 168",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase rnf168",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rnf168",
                    "type": "recommended"
                },
                {
                    "name": "RNF168",
                    "type": "synonym"
                },
                {
                    "name": "fi30d02",
                    "type": "synonym"
                },
                {
                    "name": "rnf168",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi30d02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64185",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7T308-1",
            "evidence": [
                {
                    "id": "0090113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80XJ2-1",
            "uniprot_ac": "Q80XJ2",
            "uniprot_id": "RN168_MOUSE",
            "refseq_ac": "NP_081631",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF168",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF168",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 168",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF168",
                    "type": "synonym"
                },
                {
                    "name": "ring fnger protein 168",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf168",
                    "type": "recommended"
                },
                {
                    "name": "3110001H15Rik",
                    "type": "synonym"
                },
                {
                    "name": "RNF168",
                    "type": "synonym"
                },
                {
                    "name": "Rnf168",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80XJ2-1",
            "evidence": [
                {
                    "id": "0090113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IYW5-1",
            "uniprot_ac": "Q8IYW5",
            "uniprot_id": "RN168_HUMAN",
            "refseq_ac": "NP_689830",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF168",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF168",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 168",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF168",
                    "type": "synonym"
                },
                {
                    "name": "hRNF168",
                    "type": "synonym"
                },
                {
                    "name": "ring finger protein 168, E3 ubiquitin protein ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNF168",
                    "type": "recommended"
                },
                {
                    "name": "RIDL",
                    "type": "synonym"
                },
                {
                    "name": "RNF168",
                    "type": "synonym"
                },
                {
                    "name": "hRNF168",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IYW5-1",
            "evidence": [
                {
                    "id": "611943",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611943"
                },
                {
                    "id": "0090113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RYR0-1",
            "uniprot_ac": "B2RYR0",
            "uniprot_id": "RN168_RAT",
            "refseq_ac": "NP_001121069",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF168",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF168",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 168",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF168",
                    "type": "synonym"
                },
                {
                    "name": "ring finger protein 168, E3 ubiquitin protein ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf168",
                    "type": "recommended"
                },
                {
                    "name": "RNF168",
                    "type": "synonym"
                },
                {
                    "name": "Rnf168",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RYR0-1",
            "evidence": [
                {
                    "id": "0090113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090113"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090113"
}