{
    "disease_id": "DOID:0110161",
    "recommended_name": {
        "id": "DOID:0110161",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110161",
        "name": "Charcot-Marie-Tooth disease type 2R",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q."
    },
    "synonyms": [
        {
            "id": "DOID:0110161",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110161",
            "name": "CMT2R",
            "description": ""
        },
        {
            "id": "DOID:0110161",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110161",
            "name": "Charcot-Marie-Tooth neuropathy type 2R",
            "description": ""
        },
        {
            "id": "DOID:0110161",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110161",
            "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2R",
            "description": ""
        },
        {
            "id": "MONDO:0014208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014208",
            "name": "Charcot-Marie-Tooth disease type 2R",
            "description": "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene."
        },
        {
            "id": "MONDO:0014208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014208",
            "name": "CMT2R",
            "description": ""
        },
        {
            "id": "MONDO:0014208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014208",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2",
            "description": ""
        },
        {
            "id": "MONDO:0014208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014208",
            "name": "Charcot-Marie-Tooth disease type 2R",
            "description": ""
        },
        {
            "id": "MONDO:0014208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014208",
            "name": "Charcot-Marie-Tooth disease, type 2R",
            "description": ""
        },
        {
            "id": "MONDO:0014208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014208",
            "name": "TRIM2 Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014208",
            "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R",
            "description": ""
        },
        {
            "id": "MONDO:0014208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014208",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2R",
            "description": ""
        },
        {
            "id": "MIM:615490",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615490",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2R",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2R"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110161"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110161",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110161",
            "categories": []
        },
        {
            "id": "MONDO:0014208",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014208",
            "categories": []
        },
        {
            "id": "MIM:615490",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615490",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B666-1",
            "uniprot_ac": "A0ACD6B666",
            "uniprot_id": "A0ACD6B666_DANRE",
            "refseq_ac": "XP_005170946",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripartite motif-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM2",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM2",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trim2a",
                    "type": "recommended"
                },
                {
                    "name": "trim2a",
                    "type": "synonym"
                },
                {
                    "name": "trim2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113099",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B666-1",
            "evidence": [
                {
                    "id": "0110161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110161"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B8A5M1-1",
            "uniprot_ac": "B8A5M1",
            "uniprot_id": "B8A5M1_DANRE",
            "refseq_ac": "XP_009304581",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripartite motif-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM2",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM2",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trim2b",
                    "type": "recommended"
                },
                {
                    "name": "trim2b",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A5M1-1",
            "evidence": [
                {
                    "id": "0110161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110161"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESN6-1",
            "uniprot_ac": "Q9ESN6",
            "uniprot_id": "TRIM2_MOUSE",
            "refseq_ac": "NP_001258654",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripartite motif-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM2",
                    "type": "synonym"
                },
                {
                    "name": "Neural activity-related RING finger protein",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM2",
                    "type": "synonym"
                },
                {
                    "name": "neural activity-related ring finger protein",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif protein 2",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif protein TRIM2",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trim2",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0517",
                    "type": "synonym"
                },
                {
                    "name": "Narf",
                    "type": "synonym"
                },
                {
                    "name": "Trim2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0517",
                    "type": "synonym"
                },
                {
                    "name": "narf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESN6-1",
            "evidence": [
                {
                    "id": "0110161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110161"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C040-1",
            "uniprot_ac": "Q9C040",
            "uniprot_id": "TRIM2_HUMAN",
            "refseq_ac": "NP_001123539",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripartite motif-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Charcot-Marie-Tooth disease, type 2R",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM2",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 86",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM2",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif protein TRIM2",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRIM2",
                    "type": "recommended"
                },
                {
                    "name": "CMT2R",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0517",
                    "type": "synonym"
                },
                {
                    "name": "RNF86",
                    "type": "synonym"
                },
                {
                    "name": "TRIM2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9C040-1",
            "evidence": [
                {
                    "id": "615490",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615490"
                },
                {
                    "id": "0110161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110161"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZQG6-1",
            "uniprot_ac": "D3ZQG6",
            "uniprot_id": "TRIM2_RAT",
            "refseq_ac": "NP_001102022",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripartite motif-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM2",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM2",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif protein 2",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trim2",
                    "type": "recommended"
                },
                {
                    "name": "Trim2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZQG6-1",
            "evidence": [
                {
                    "id": "0110161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110161"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7YZK8-1",
            "uniprot_ac": "B7YZK8",
            "uniprot_id": "B7YZK8_DROME",
            "refseq_ac": "NP_001137707",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG15105-PC",
                    "type": "synonym"
                },
                {
                    "name": "Thin, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "another B-box affiliate",
                    "type": "synonym"
                },
                {
                    "name": "l(2)thin",
                    "type": "synonym"
                },
                {
                    "name": "thin, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "tn-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tn",
                    "type": "recommended"
                },
                {
                    "name": "Abba",
                    "type": "synonym"
                },
                {
                    "name": "CG15105",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15105",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15105",
                    "type": "synonym"
                },
                {
                    "name": "TRIM32",
                    "type": "synonym"
                },
                {
                    "name": "Thin",
                    "type": "synonym"
                },
                {
                    "name": "Tn",
                    "type": "synonym"
                },
                {
                    "name": "abba",
                    "type": "synonym"
                },
                {
                    "name": "l(2)tn",
                    "type": "synonym"
                },
                {
                    "name": "tn",
                    "type": "synonym"
                }
            ],
            "record_id": "B7YZK8-1",
            "evidence": [
                {
                    "id": "0110161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110161"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110161"
}